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
EFR3A	23167	broad.mit.edu	37	8	132996489	132996489	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132996489T>C	uc003yte.3	+	14	1883	c.1679T>C	c.(1678-1680)aTt>aCt	p.I560T		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	560						plasma membrane	binding	p.T559S(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			CTTATAACTATTGAACTGGCT	0.363000														73			17		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4385275	4385275	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385275C>T	uc001qmo.3	+	1	605	c.300C>T	c.(298-300)ctC>ctT	p.L100L		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	100	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			ATCTGCAACTCCTGGGTGCTG	0.562000			T	IGL@	"""NHL,CLL"""									126			37		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235697	140235697	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140235697G>T	uc003lhx.2	+	0	64	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	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_Missense_Mutation_p.A22S|PCDHAC2_uc011dad.2_Missense_Mutation_p.A22S	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	36					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCGCAGCCTGGGAGGT	0.597000														219			41		5.43694e-19	6.59212e-19	1	1	0
DMPK	1760	broad.mit.edu	37	19	46275971	46275971	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46275971C>A	uc002pdi.1	-	10	1536	c.1350G>T	c.(1348-1350)gaG>gaT	p.E450D	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Missense_Mutation_p.E335D|DMPK_uc002pdd.1_Missense_Mutation_p.E434D|DMPK_uc002pde.1_Missense_Mutation_p.E429D|DMPK_uc002pdg.1_Missense_Mutation_p.E419D|DMPK_uc002pdf.1_Missense_Mutation_p.E424D|DMPK_uc002pdh.1_Missense_Mutation_p.E419D|DMPK_uc010xxt.1_Missense_Mutation_p.E419D	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	434					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTGCTCGGCCTCCAGTTCCA	0.632000														73			5		0.000602214	0.000618135	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150068940	150068940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068940C>A	uc010lpr.1	+	2	974	c.781C>A	c.(781-783)Ctg>Atg	p.L261M	REPIN1_uc003whd.2_Missense_Mutation_p.L193M|REPIN1_uc010lpq.1_Missense_Mutation_p.L204M|REPIN1_uc003whc.2_Missense_Mutation_p.L204M|REPIN1_uc003whe.2_Missense_Mutation_p.L204M	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	204					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			AGCTGAGGCCCTGGAGGAGGC	0.741000														43			12		3.07112e-06	3.25591e-06	1	1	0
SENP8	123228	broad.mit.edu	37	15	72432577	72432577	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432577C>A	uc021spq.1	+	1	946	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	SENP8_uc021spr.1_Missense_Mutation_p.L205I|SENP8_uc021sps.1_Missense_Mutation_p.L205I|SENP8_uc021spt.1_Missense_Mutation_p.L205I|SENP8_uc002atp.3_Missense_Mutation_p.L205I|SENP8_uc021spu.1_Missense_Mutation_p.L205I	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	205					proteolysis		cysteine-type peptidase activity|protein binding	p.L205P(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ATGGAAAGATCTCATTACCAC	0.448000														61			9		0.000442599	0.000455268	1	1	0
JUNB	3726	broad.mit.edu	37	19	12903500	12903500	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12903500C>T	uc002mvc.3	+	0	1191	c.915C>T	c.(913-915)gcC>gcT	p.A305A		NM_002229	NP_002220	P17275	JUNB_HUMAN	Homo sapiens jun B proto-oncogene (JUNB), mRNA.	305	Leucine-zipper.					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CGCTCAAGGCCGAGAACGCGG	0.677000														23			3		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47664864	47664864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47664864G>A	uc002zir.1	-	22	4931	c.4895C>T	c.(4894-4896)tCc>tTc	p.S1632F	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.S127F|MCM3AP_uc002zip.1_Missense_Mutation_p.S373F|MCM3AP_uc002ziq.1_Missense_Mutation_p.S559F|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1632					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GACAGGCCAGGACAGGTCACA	0.597000														87			7		0	0	1	0	0
SEPT1	1731	broad.mit.edu	37	16	30392552	30392552	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30392552C>A	uc002dxy.3	-	6	641	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	ZNF48_uc021tgi.1_Intron|ZNF48_uc021tgj.1_Intron|SEPT1_uc010veq.1_3'UTR	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Homo sapiens septin 1 (SEPT1), mRNA.	152					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			AAGGCCACATCTAGGGGCCGG	0.632000														169			59		6.56871e-35	8.3154e-35	1	1	0
OSBPL10	114884	broad.mit.edu	37	3	31918002	31918002	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:31918002C>T	uc021wuu.1	-	2	1131	c.460G>A	c.(460-462)Gct>Act	p.A154T	OSBPL10_uc011axf.2_Missense_Mutation_p.A154T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	154	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTTGCATCAGCAGCTAAAATA	0.433000														55			14		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152477184	152477184	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152477184G>T	uc021zhb.1	-	129	24062	c.23839C>A	c.(23839-23841)Ctc>Atc	p.L7947I	SYNE1_uc003qos.4_Missense_Mutation_p.L2471I|SYNE1_uc003qot.4_Missense_Mutation_p.L7876I|SYNE1_uc003qou.4_Missense_Mutation_p.L7947I|SYNE1_uc011eez.2_Missense_Mutation_p.L149I|SYNE1_uc003qoq.4_Missense_Mutation_p.L149I|SYNE1_uc003qor.4_Missense_Mutation_p.L847I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7947					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CACAGGTTGAGGACAGATGCA	0.512000										HNSCC(10;0.0054)				115			21		1.10513e-12	1.27896e-12	1	1	0
OTOF	9381	broad.mit.edu	37	2	26698861	26698861	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26698861C>A	uc002rhk.3	-	23	3039	c.2912G>T	c.(2911-2913)aGc>aTc	p.S971I	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.S224I|OTOF_uc002rhi.3_Missense_Mutation_p.S281I|OTOF_uc002rhj.3_Missense_Mutation_p.S224I	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	971	C2 3.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAAAGAGGCTGCGGGCCTG	0.652000														51			17		1.45105e-14	1.70617e-14	1	1	0
BAZ2B	29994	broad.mit.edu	37	2	160289445	160289445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160289445C>T	uc002uao.3	-	8	2128	c.1723G>A	c.(1723-1725)Gta>Ata	p.V575I	BAZ2B_uc002uap.3_Missense_Mutation_p.V573I|BAZ2B_uc002uas.1_Missense_Mutation_p.V512I|BAZ2B_uc002uaq.1_Missense_Mutation_p.V503I|BAZ2B_uc002uar.1_Missense_Mutation_p.V148I	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGTGTTTTTACTGGGTTTACA	0.428000														173			45		0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170140	214170140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170140C>T	uc001hkh.3	+	1	534	c.262C>T	c.(262-264)Cca>Tca	p.P88S	PROX1_uc001hkg.1_Missense_Mutation_p.P88S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	88					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GATGCCTTTTCCAGGAGCAAC	0.483000														140			30		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2308989	2308989	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2308989G>A	uc002wfx.4	+	8	1408	c.1311G>A	c.(1309-1311)acG>acA	p.T437T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	437					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGGACGTCACGGACAAGTACA	0.567000														92			14		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103984787	103984787	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103984787C>T	uc001tjw.3	+	1	380	c.194C>T	c.(193-195)tCt>tTt	p.S65F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	65					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						ACCAGTGGCTCTGTAGGGGTT	0.468000														145			57		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139262245	139262245	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139262245G>A	uc022bpp.1	-	7	1279	c.1113C>T	c.(1111-1113)caC>caT	p.H371H	CARD9_uc004chg.3_Silent_p.H371H|CARD9_uc022bpo.1_Silent_p.H371H|CARD9_uc011mdx.1_Silent_p.H267H	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	371					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGCCCCGGGCGTGCTGTGCGT	0.706000														54			22		0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089311	86089311	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86089311C>T	uc021rxf.1	+	0	1453	c.1453C>T	c.(1453-1455)Ccc>Tcc	p.P485S	FLRT2_uc001xvr.3_Missense_Mutation_p.P485S|FLRT2_uc010atd.3_Missense_Mutation_p.P485S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	485	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTTAGAGCCCCGATCCAC	0.522000														235			56		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125725383	125725383	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725383G>T	uc003eij.3	-	11	1617	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D	SLC41A3_uc003eii.3_3'UTR|SLC41A3_uc003eil.3_3'UTR|SLC41A3_uc003eik.3_Missense_Mutation_p.A428D|SLC41A3_uc011bkh.2_3'UTR	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	464						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TGGCACAGCAGCAGTGTGGCC	0.507000														68			17		2.23348e-06	2.37297e-06	1	1	0
RAB37	326624	broad.mit.edu	37	17	72733174	72733174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72733174G>A	uc010wrc.2	+	0	216	c.26G>A	c.(25-27)gGa>gAa	p.G9E	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|RAB37_uc010wrb.2_Intron|RAB37_uc002jlk.3_5'Flank|RAB37_uc010wre.2_5'Flank	NM_001163989	NP_001157461	Q96AX2	RAB37_HUMAN	Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA.	0					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GAAGCGCACGGAGCCGAGCCG	0.721000														48			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719676	140719676	+	Missense_Mutation	SNP	G	A	A	rs149474643	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719676G>A	uc003ljk.2	+	0	1323	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A380T	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	383	Cadherin 4.				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)			TGGGCAGAACGCATTCACCAC	0.433000														150			25		0	0	1	0	0
NOL10	79954	broad.mit.edu	37	2	10712235	10712235	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10712235G>T	uc002raq.2	-	20	2154	c.2029C>A	c.(2029-2031)Ctg>Atg	p.L677M	NOL10_uc010yje.1_Missense_Mutation_p.L651M|NOL10_uc010yjf.1_Missense_Mutation_p.L627M|NOL10_uc002rap.2_Missense_Mutation_p.L627M	NM_024894	NP_079170	Q9BSC4	NOL10_HUMAN	Homo sapiens nucleolar protein 10 (NOL10), mRNA.	677						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTGACTTCAGGTGTCCGGCC	0.473000														278			86		1.31969e-37	1.67509e-37	1	1	0
CPSF2	53981	broad.mit.edu	37	14	92620736	92620736	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92620736T>C	uc001yah.2	+	9	1443	c.1175T>C	c.(1174-1176)cTt>cCt	p.L392P		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	392					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGGAAAGAACTTGAAGAATAC	0.328000														29			13		0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592876	170592876	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592876G>A	uc003qxm.3	-	8	1961	c.1491C>T	c.(1489-1491)caC>caT	p.H497H		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	497	EGF-like 8.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGCCCCTCTCGTGGCAGGTGG	0.701000														26			8		0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52895864	52895864	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52895864G>A	uc003pbh.2	-	6	848	c.358_splice	c.e6+1	p.G120_splice	ICK_uc003pbi.2_Splice_Site_p.G120_splice|ICK_uc003pbj.3_Splice_Site_p.G120_splice	NM_016513	NP_057597	Q9UPZ9	ICK_HUMAN	Homo sapiens intestinal cell (MAK-like) kinase (ICK), transcript variant 2, mRNA.	120	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					ATCACCTACCGTGTTTGTGAA	0.368000														57			14		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44934204	44934204	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44934204T>G	uc002oze.1	-	5	1186	c.752A>C	c.(751-753)aAa>aCa	p.K251T	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.K245T	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TACAGAGTTTTTAATGCAGTC	0.433000														113			36		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133228	89133228	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89133228G>A	uc001pct.3	-	10	1270	c.1031C>T	c.(1030-1032)cCc>cTc	p.P344L	NOX4_uc009yvr.3_Missense_Mutation_p.P319L|NOX4_uc001pcu.3_Missense_Mutation_p.P270L|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.P344L|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.P178L|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.P320L|NOX4_uc009yvq.3_Missense_Mutation_p.P320L	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	344	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGATACACTGGGACAATGTAG	0.303000														54			7		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97029194	97029194	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97029194A>C	uc001yfq.3	+	20	2323	c.2106A>C	c.(2104-2106)gaA>gaC	p.E702D	PAPOLA_uc001yfr.3_Missense_Mutation_p.E701D|PAPOLA_uc010twv.2_Missense_Mutation_p.E681D|PAPOLA_uc010avp.3_Missense_Mutation_p.E452D	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	702	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CTCAATCAGAAACTATTCAGA	0.378000														141			42		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47817955C>T	uc002zji.4	+	22	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_uc002zjj.3_Missense_Mutation_p.R1374C	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1492					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706000														22			5		0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107885720	107885720	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:107885720G>A	uc021xcc.1	-	7	1108	c.1055C>T	c.(1054-1056)gCt>gTt	p.A352V	IFT57_uc003dwx.4_Missense_Mutation_p.A321V	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	321	pDED.				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CTGGGCTTGAGCTGCACGATA	0.368000														57			15		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53058088	53058088	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53058088G>A	uc010epq.1	+	4	2096	c.1919G>A	c.(1918-1920)cGa>cAa	p.R640Q	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCTGGCACGACATACAAGA	0.408000														105			31		0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139695019	139695019	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139695019G>A	uc021zfz.1	-	1	153	c.63C>T	c.(61-63)caC>caT	p.H21H	CITED2_uc021zga.1_Silent_p.H21H|CITED2_uc003qip.1_Silent_p.H21H|CITED2_uc021zgb.1_Silent_p.H21H	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	21	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		CAGGGTGATGGTGCAGCCCAT	0.622000														82			21		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140755255	140755255	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140755255C>T	uc003ljy.2	+	0	1605	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.S535S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	537	Cadherin 5.				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)			TGACAGCCAGCGACAGCGGGG	0.597000														381			87		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805040	44805040	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44805040C>T	uc003tlr.3	+	15	2227	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	ZMIZ2_uc003tlq.3_Missense_Mutation_p.R644C|ZMIZ2_uc003tls.3_Missense_Mutation_p.R676C|ZMIZ2_uc003tlt.3_Missense_Mutation_p.R325C|ZMIZ2_uc010kyj.3_Missense_Mutation_p.R224C|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	702					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						AGCACTGAAGCGCTGCCGCAC	0.677000														71			20		0	0	1	0	0
CTSG	1511	broad.mit.edu	37	14	25044478	25044478	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25044478A>G	uc001wpq.3	-	1	233	c.196T>C	c.(196-198)Tgg>Cgg	p.W66R		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	66	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CACCTTCCCCAGCAATGAGCT	0.552000														145			31		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53454543	53454543	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53454543G>A	uc001sbp.3	+	19	2988	c.2853G>A	c.(2851-2853)caG>caA	p.Q951Q	TENC1_uc001sbl.3_Silent_p.Q827Q|TENC1_uc001sbn.3_Silent_p.Q961Q|TENC1_uc001sbq.3_Silent_p.Q349Q|TENC1_uc001sbr.3_Non-coding_Transcript|TENC1_uc009zmr.3_Silent_p.Q446Q	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	951	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTGTTTCCCAGGCAGGCACCG	0.687000														76			13		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745329	145745329	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745329G>A	uc003zdk.2	+	1	394	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.A74T	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	74										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCAGCCGTGCCCTCCTGCA	0.637000														179			28		0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79635075	79635075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79635075C>T	uc004ako.1	+	0	505	c.505C>T	c.(505-507)Ccg>Tcg	p.P169S		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	169	Poly-Pro.				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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	p.P169P(1)		breast(1)|lung(8)|ovary(1)	10						gccgccgccgccgcccccgcc	0.701000														27			10		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172365759	172365759	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365759A>C	uc011bpx.2	-	1	518	c.380T>G	c.(379-381)tTt>tGt	p.F127C	NCEH1_uc003fig.3_Missense_Mutation_p.F127C|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	95					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AGGGCCTTCAAACACTCTGAC	0.517000														110			22		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998653	100998653	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998653G>A	uc001pgh.2	-	0	1892	c.1149C>T	c.(1147-1149)ccC>ccT	p.P383P	PGR_uc001pgi.2_Silent_p.P383P|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	383	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTTAGAGCGGGCGGCTGGA	0.682000														97			17		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44669988	44669988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44669988G>A	uc010zxl.1	+	7	1020	c.944G>A	c.(943-945)cGc>cAc	p.R315H	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.R292H	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	315					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGGGTAACCGCACGCTGTCT	0.582000														113			24		0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17837219	17837219	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17837219C>T	uc002nhe.1	+	4	1035	c.1026C>T	c.(1024-1026)tgC>tgT	p.C342C	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Silent_p.C316C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	342	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCAACGCCTGCGAGGCCGCGT	0.731000														20			12		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915287	119915287	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915287G>A	uc003vjj.1	+	0	1566	c.601G>A	c.(601-603)Gcg>Acg	p.A201T		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	201					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CTCTGTCATCGCGAATGTGGT	0.562000														117			21		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50339654	50339654	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50339654C>T	uc001zxu.3	-	3	237	c.95G>A	c.(94-96)cGt>cAt	p.R32H	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	32					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TGTGTGGATACGATTATCCTG	0.373000														46			22		0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24190110	24190110	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24190110C>T	uc001uov.2	+	3	489	c.285C>T	c.(283-285)tgC>tgT	p.C95C	TNFRSF19_uc001uot.3_Silent_p.C95C|TNFRSF19_uc010tcu.2_5'UTR|TNFRSF19_uc001uow.3_Silent_p.C95C	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	95					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GTCTGGACTGCGCAGTGGTGA	0.572000														139			16		0	0	1	0	0
SMPD4	55627	broad.mit.edu	37	2	130925111	130925111	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130925111T>G	uc002tqq.2	-	8	1978	c.829A>C	c.(829-831)Aag>Cag	p.K277Q	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_5'UTR|SMPD4_uc002tqs.2_Missense_Mutation_p.K145Q|SMPD4_uc002tqr.2_Missense_Mutation_p.K277Q|SMPD4_uc010zaa.2_Missense_Mutation_p.K164Q|SMPD4_uc010zab.2_Missense_Mutation_p.K204Q|SMPD4_uc002tqt.2_Missense_Mutation_p.K155Q|SMPD4_uc010zac.2_5'UTR|SMPD4_uc010zad.2_5'UTR	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	238					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	ATGTGTCGCTTTAGGAGGCTA	0.557000														96			11		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194446	169194446	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169194446T>G	uc003irp.3	-	17	2850	c.2558A>C	c.(2557-2559)gAt>gCt	p.D853A		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	853	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GTTTAAGGCATCATGACGATA	0.358000														71			17		0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107266825	107266825	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107266825C>A	uc011lvm.2	+	0	282	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	94			F -> S (in dbSNP:rs7018553).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTATTTCATTCTCAGGGTGCG	0.517000														145			27		4.7796e-09	5.27959e-09	1	1	0
ITGA8	8516	broad.mit.edu	37	10	15697376	15697376	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15697376G>A	uc001ioc.1	-	10	978	c.978C>T	c.(976-978)gtC>gtT	p.V326V	ITGA8_uc010qcb.1_Silent_p.V311V	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	326					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CATCTGATACGACAACGGTAT	0.318000														85			19		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79692681	79692681	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79692681C>T	uc011dyp.2	-	22	2914	c.2688G>A	c.(2686-2688)aaG>aaA	p.K896K	PHIP_uc003piq.3_5'UTR|PHIP_uc003pir.3_Silent_p.K897K	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	897	Lys-rich.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ttttcttttcctttttaatct	0.308000														45			8		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302184	128302184	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:128302184C>T	uc003kuy.3	+	1	750	c.354C>T	c.(352-354)ttC>ttT	p.F118F	SLC27A6_uc003kuz.3_Silent_p.F118F	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	118					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGCCGGACTTCGTTCACGTGT	0.567000														81			9		0	0	1	0	0
MATK	4145	broad.mit.edu	37	19	3783843	3783843	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3783843A>G	uc002lyt.3	-	5	951	c.551T>C	c.(550-552)gTg>gCg	p.V184A	MATK_uc002lyv.3_Missense_Mutation_p.V185A|MATK_uc002lyu.3_Missense_Mutation_p.V143A|MATK_uc010dtq.3_Missense_Mutation_p.V184A	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	184	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A183V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGAAGAACACGGCCTCATC	0.667000														105			14		0	0	1	0	0
RMND5A	64795	broad.mit.edu	37	2	87000470	87000470	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:87000470G>A	uc002srr.2	+	9	1490	c.1113_splice	c.e9-1	p.K371_splice	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	371										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTTGTCTTTAGATTAAAATGT	0.328000														62			13		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66533665	66533665	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66533665C>A	uc002jho.3	-	10	1867	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	FAM20A_uc010wqp.2_Missense_Mutation_p.V389L|FAM20A_uc002jhn.3_Missense_Mutation_p.V238L	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	527						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AACTGTTCCACTGGGCCGTCG	0.572000														35			14		4.3838e-07	4.70703e-07	1	1	0
TNFAIP8L3	388121	broad.mit.edu	37	15	51350473	51350473	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51350473C>A	uc001zyy.3	-	2	584	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	162										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ATCTTGTGGGCTTCCTTCTTG	0.458000														198			33		2.20474e-14	2.59082e-14	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71267541	71267541	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267541C>T	uc001xmm.3	-	1	663	c.663G>A	c.(661-663)gaG>gaA	p.E221E	MAP3K9_uc001xml.3_Silent_p.E221E	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	221	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACGAGCAAACTCCATGACCA	0.522000														131			24		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28878735	28878735	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878735G>A	uc001iuf.3	+	4	540	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	WAC_uc001iud.3_Missense_Mutation_p.R106Q|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.R106Q|WAC_uc001iug.3_Missense_Mutation_p.R151Q|WAC_uc001iuh.3_Missense_Mutation_p.R106Q	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	151	WW.				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TACAATTGTCGAACAGAAGTT	0.318000														109			22		0	0	1	0	0
USP6NL	9712	broad.mit.edu	37	10	11504924	11504924	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11504924C>A	uc001iks.1	-	13	2097	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	USP6NL_uc001ikt.3_Missense_Mutation_p.R668M	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	668						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						ATGAGGTCTCCTGGAAGGATT	0.532000														41			9		3.09899e-07	3.33423e-07	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	44131843	44131843	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44131843C>T	uc003bdy.2	-	6	852	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	EFCAB6_uc003bdz.2_Missense_Mutation_p.A28T|EFCAB6_uc010gzi.2_Missense_Mutation_p.A28T|EFCAB6_uc011aqa.2_Missense_Mutation_p.A74T|EFCAB6_uc003bea.2_Missense_Mutation_p.A177T|EFCAB6_uc003beb.4_Missense_Mutation_p.A74T	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	180	EF-hand 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				AGCTCAAAGGCTTTCATAACA	0.368000														128			28		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135272569	135272569	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135272569T>G	uc021ydv.1	+	4		c.768T>G			FBXL21_uc003lbc.3_Non-coding_Transcript|FBXL21_uc021ydw.1_Non-coding_Transcript|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCTACTTCATCTTTTAAGTC	0.363000														76			21		0	0	1	0	0
WDR26	80232	broad.mit.edu	37	1	224599257	224599257	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224599257G>A	uc001hop.4	-	6	1224	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	WDR26_uc001hoq.4_Missense_Mutation_p.P328S|WDR26_uc021pjp.1_Non-coding_Transcript	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	344						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTATAACATGGGAACTGCCTC	0.333000														81			11		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64485152	64485152	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64485152C>T	uc010ssp.1	+	11	1589	c.1533C>T	c.(1531-1533)ttC>ttT	p.F511F	SRGAP1_uc001srv.2_Intron	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	511	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TGGAAACATTCGTCAAGGTAC	0.478000														73			20		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111617186	111617186	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111617186C>T	uc003vfy.3	-	8	970	c.701_splice	c.e8+1	p.S234_splice	DOCK4_uc003vfx.3_Splice_Site_p.S234_splice|DOCK4_uc003vga.1_Splice_Site|DOCK4_uc010ljt.1_Splice_Site_p.S234_splice	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	234					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CGTGCAGGTACCTGATTGGCC	0.423000														27			3		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19344688	19344688	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19344688G>A	uc002nlz.3	+	8	3209	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCAN_uc010ecc.1_Missense_Mutation_p.G601D	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1037	EGF-like 1.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TGTGATCAGGGCTTCGCCGGG	0.517000														114			26		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466940	164466940	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164466940G>A	uc002uck.1	-	2	1713	c.1402C>T	c.(1402-1404)Ctc>Ttc	p.L468F		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	468						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						AGGTCGATGAGGTGCGTGTCA	0.532000														122			30		0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117105005	117105005	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117105005T>C	uc001pqt.3	+	1	62	c.17T>C	c.(16-18)gTt>gCt	p.V6A	PCSK7_uc001pqr.3_5'Flank|RNF214_uc001pqu.3_Missense_Mutation_p.V6A|RNF214_uc010rxf.2_Missense_Mutation_p.V6A	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	Homo sapiens ring finger protein 214 (RNF214), transcript variant 1, mRNA.	6							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GCGTCTGAGGTTGCTGGTGTT	0.453000														185			31		0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13246275	13246275	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13246275C>A	uc001ima.3	+	17	2540	c.2412C>A	c.(2410-2412)taC>taA	p.Y804*	MCM10_uc001imb.3_Nonsense_Mutation_p.Y803*|MCM10_uc001imc.3_Nonsense_Mutation_p.Y803*	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	804					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGCATGAATACCACTGGCATG	0.512000														102			31		8.58068e-18	1.03204e-17	1	1	0
MYO16	23026	broad.mit.edu	37	13	109475617	109475617	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:109475617C>T	uc010agk.2	+	8	1710	c.1088C>T	c.(1087-1089)tCg>tTg	p.S363L	MYO16_uc001vqt.1_Missense_Mutation_p.S341L|MYO16_uc001vqu.1_Missense_Mutation_p.S141L	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	341					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.S341L(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCGTACTGTCGAGTAAGCTG	0.428000														122			25		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40745515	40745515	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40745515A>G	uc001rmg.4	+	43	6677	c.6556A>G	c.(6556-6558)Act>Gct	p.T2186A	LRRK2_uc009zjw.3_Missense_Mutation_p.T1024A|LRRK2_uc001rmi.3_Missense_Mutation_p.T1019A	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	2186					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGACTTAAATACTGAAGGATA	0.373000														68			5		0	0	1	0	0
HNRNPA3P1	10151	broad.mit.edu	37	10	44285389	44285389	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44285389G>A	uc010qfe.1	-	0	477	c.447C>T	c.(445-447)taC>taT	p.Y149Y						Homo sapiens heterogeneous nuclear ribonucleoprotein A3 pseudogene 1 (HNRNPA3P1), non-coding RNA.																		CAATCTTGCCGTACTTTTCAA	0.353000														90			14		0	0	1	0	0
CD80	941	broad.mit.edu	37	3	119263445	119263445	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119263445C>A	uc003ecq.3	-	2	765	c.370G>T	c.(370-372)Gac>Tac	p.D124Y	CD80_uc010hqt.1_Missense_Mutation_p.D124Y|CD80_uc010hqu.1_Missense_Mutation_p.D124Y|CD80_uc003ecr.1_Missense_Mutation_p.D124Y	NM_005191	NP_005182	P33681	CD80_HUMAN	Homo sapiens CD80 molecule (CD80), mRNA.	124	Ig-like V-type.				T cell costimulation|interspecies interaction between organisms|intracellular signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of transcription, DNA-dependent	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	TTGAAAGCGTCTTTTTCATAC	0.463000														127			28		5.45727e-16	6.48868e-16	1	1	0
SMC2	10592	broad.mit.edu	37	9	106875687	106875687	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106875687G>T	uc004bbv.3	+	10	1633	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	SMC2_uc004bbu.1_Nonsense_Mutation_p.E449*|SMC2_uc004bbw.3_Nonsense_Mutation_p.E449*|SMC2_uc011lvl.2_Nonsense_Mutation_p.E449*|SMC2_uc010mth.1_Nonsense_Mutation_p.E399*|SMC2_uc004bbx.3_Nonsense_Mutation_p.E449*	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	449					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAGGATCAAGAAGCTCTAGA	0.353000														75			12		1.61879e-10	1.82465e-10	1	1	0
KDM1B	221656	broad.mit.edu	37	6	18208416	18208416	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18208416C>T	uc003nco.1	+	9	1311	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	KDM1B_uc003ncn.1_Silent_p.G383G	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	615					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CTACAGATGGCACAGGGTATT	0.463000														118			20		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64520174	64520174	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64520174C>A	uc003jtp.3	-	17	3059	c.2245G>T	c.(2245-2247)Gaa>Taa	p.E749*	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Nonsense_Mutation_p.E370*	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	749	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		ATGGCAACTTCTCTAACTTCA	0.403000														99			21		2.21704e-12	2.55528e-12	1	1	0
HSPBP1	23640	broad.mit.edu	37	19	55777302	55777302	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55777302C>T	uc002qkd.3	-	6	1179	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687000														32			4		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296115	15296115	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296115C>A	uc002nan.3	-	13	2325	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	NOTCH3_uc002nao.1_Missense_Mutation_p.S750I	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	750	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCATCGCTGCTGCATGTCCC	0.662000														95			37		2.47987e-07	2.67235e-07	1	1	0
FXR1	8087	broad.mit.edu	37	3	180666195	180666195	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666195C>T	uc003fkq.3	+	4	571	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FXR1_uc003fkp.3_Nonsense_Mutation_p.R26*|FXR1_uc003fkr.3_Nonsense_Mutation_p.R111*|FXR1_uc011bqj.2_Nonsense_Mutation_p.R25*|FXR1_uc003fks.3_Nonsense_Mutation_p.R25*|FXR1_uc011bqk.2_Nonsense_Mutation_p.R62*|FXR1_uc011bql.2_Nonsense_Mutation_p.R98*	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	111					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			CACATTTGAACGACTTCGGCC	0.338000														49			8		0	0	1	0	0
UPK1A	11045	broad.mit.edu	37	19	36166803	36166803	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36166803C>T	uc010eeh.3	+	4	530	c.530C>T	c.(529-531)gCg>gTg	p.A177V	UPK1A_uc002oaw.3_Missense_Mutation_p.A177V|BC007817_uc002oax.1_5'Flank			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	177					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCTTCCGGGCGGCCACTCCG	0.642000														114			14		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11272254	11272254	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11272254G>A	uc021tcy.1	+	23	3099	c.2869G>A	c.(2869-2871)Gaa>Aaa	p.E957K	CLEC16A_uc002dao.3_Missense_Mutation_p.E955K|CLEC16A_uc002dap.3_Missense_Mutation_p.E44K	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	957								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AATCGTCAACGAAACGGAAGC	0.607000														298			71		0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204313471	204313471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204313471C>T	uc002vad.3	-	10	1727	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	RAPH1_uc002vae.3_Missense_Mutation_p.R553H|RAPH1_uc002vaf.3_Missense_Mutation_p.R553H	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	501	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTTGCAATGCGGATCCCATT	0.373000														96			28		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151186882	151186882	+	Missense_Mutation	SNP	G	A	A	rs145709687	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151186882G>A	uc010ipj.3	-	57	8828	c.8584C>T	c.(8584-8586)Cgc>Tgc	p.R2862C	LRBA_uc010ipi.3_Missense_Mutation_p.R384C|LRBA_uc003ils.4_Missense_Mutation_p.R757C|LRBA_uc003ilt.4_Missense_Mutation_p.R1510C|LRBA_uc003ilu.4_Missense_Mutation_p.R2850C|LRBA_uc003ilr.4_Missense_Mutation_p.R282C	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2862						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATCAGTAGCGGGTTTGGTAT	0.448000														69			7		0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305800	18305800	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305800C>T	uc010ebj.3	+	1	818	c.199C>T	c.(199-201)Cgt>Tgt	p.R67C	MPV17L2_uc002nid.3_Silent_p.F156F			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	137						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						CTGCGCAGTTCGTGAACTTCC	0.667000														155			33		0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134133752	134133752	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133752G>T	uc003vrp.1	-	4	623	c.549C>A	c.(547-549)aaC>aaA	p.N183K		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	183					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TGTTTACCTGGTTAACTGCAG	0.488000														203			48		1.61004e-24	2.0018e-24	1	1	0
CAPS2	84698	broad.mit.edu	37	12	75692696	75692696	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75692696T>C	uc001sxl.3	-	9	934	c.905A>G	c.(904-906)gAc>gGc	p.D302G	CAPS2_uc001sxm.3_Missense_Mutation_p.D89G|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D321G	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	321							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGGGATTGGTCATGAGTGAA	0.343000														43			11		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47091750	47091750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47091750G>A	uc002ldv.3	+	1	413	c.161G>A	c.(160-162)cGc>cAc	p.R54H	LIPG_uc002ldu.1_Missense_Mutation_p.R54H|LIPG_uc010xdh.2_Missense_Mutation_p.R54H	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	54					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.L53P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TTTAACCTCCGCACCTCCAAG	0.517000														110			18		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34289191	34289191	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34289191A>G	uc021uiv.1	+	17	2467	c.2370A>G	c.(2368-2370)gcA>gcG	p.A790A	FHOD3_uc002kzr.1_Silent_p.A598A|FHOD3_uc002kzs.1_Silent_p.A615A|FHOD3_uc002kzt.1_Silent_p.A598A|FHOD3_uc010dmz.1_Silent_p.A330A|FHOD3_uc010dna.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	598					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.V789I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TGGAGCAGGCACTAGAGCAAG	0.602000														205			54		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88405903	88405903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88405903C>T	uc002ssr.3	+	7	1126	c.1041C>T	c.(1039-1041)aaC>aaT	p.N347N	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Silent_p.N43N	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CTGACACCAACATCTACATGC	0.552000														87			19		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24843013	24843013	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843013G>A	uc001wpc.3	+	4	1993	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	NFATC4_uc010alr.3_Missense_Mutation_p.V621M|NFATC4_uc010tok.2_Missense_Mutation_p.V621M|NFATC4_uc010tol.2_Missense_Mutation_p.V621M|NFATC4_uc010als.2_Missense_Mutation_p.V571M|NFATC4_uc010too.2_Missense_Mutation_p.V571M|NFATC4_uc010tom.2_Missense_Mutation_p.V571M|NFATC4_uc010ton.2_Missense_Mutation_p.V571M|NFATC4_uc010toq.2_Missense_Mutation_p.V590M|NFATC4_uc010alt.3_Missense_Mutation_p.V590M|NFATC4_uc010top.2_Missense_Mutation_p.V590M|NFATC4_uc010alu.3_Missense_Mutation_p.V250M|NFATC4_uc010tor.2_Missense_Mutation_p.V558M|NFATC4_uc010tos.2_Missense_Mutation_p.V488M|NFATC4_uc010tot.2_Missense_Mutation_p.V546M|NFATC4_uc010tou.2_Missense_Mutation_p.V488M|NFATC4_uc010tov.2_Missense_Mutation_p.V546M|NFATC4_uc010tow.2_Missense_Mutation_p.V488M|NFATC4_uc010alv.3_Missense_Mutation_p.V546M|NFATC4_uc010tox.2_Missense_Mutation_p.V488M|NFATC4_uc001wpd.3_Missense_Mutation_p.V93M|NFATC4_uc010toy.2_Missense_Mutation_p.V93M|NFATC4_uc010toz.2_Missense_Mutation_p.V93M|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	558	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CCGGGTACACGTGCCCCAGGG	0.592000														152			39		0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370120	6370120	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370120C>A	uc003spu.3	-	1	1134	c.666G>T	c.(664-666)aaG>aaT	p.K222N	FAM220A_uc021zzf.1_Missense_Mutation_p.K222N	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	222						nucleus											CTATTGTTTGCTTTGAAAACA	0.433000														190			38		7.04047e-22	8.66048e-22	1	1	0
FASTKD3	79072	broad.mit.edu	37	5	7867281	7867281	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7867281G>T	uc003jeb.3	-	1	1088	c.916C>A	c.(916-918)Ctt>Att	p.L306I	FASTKD3_uc011cmp.2_Missense_Mutation_p.L8I|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	306					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	p.V305A(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTGATCAAGAACCACCAGG	0.388000														127			22		1.50039e-11	1.71053e-11	1	1	0
HEG1	57493	broad.mit.edu	37	3	124746246	124746246	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124746246G>A	uc011bke.2	-	2	784	c.716C>T	c.(715-717)gCg>gTg	p.A239V	HEG1_uc003ehs.4_Missense_Mutation_p.A239V	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	239						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						CAGCCCCATCGCCCTCTCTGT	0.537000														74			9		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10756176	10756176	+	Silent	SNP	G	A	A	rs139763869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10756176G>A	uc003wtk.1	-	2	1239	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	404						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGTCTGTTCCGCCATGGATGA	0.507000														65			18		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48670685	48670685	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670685C>A	uc003cuf.1	-	38	10504	c.10504_splice	c.e38+1	p.G3502_splice	CELSR3_uc003cug.3_Splice_Site_p.G87_splice|CELSR3_uc011bbp.2_Splice_Site_p.G108_splice|CELSR3_uc010hke.3_Splice_Site|CELSR3_uc003cuk.3_Splice_Site_p.G108_splice|CELSR3_uc003cuh.3_Splice_Site_p.G108_splice|CELSR3_uc003cui.3_Splice_Site_p.G108_splice|CELSR3_uc003cuj.3_Splice_Site_p.G108_splice	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTGGCTCACCCTGCGGAAGCT	0.592000														34			10		0.000442599	0.000455268	1	1	0
PGLYRP4	57115	broad.mit.edu	37	1	153312923	153312923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153312923C>T	uc001fbo.3	-	6	823	c.758G>A	c.(757-759)cGc>cAc	p.R253H	PGLYRP4_uc001fbp.3_Missense_Mutation_p.R249H	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	253					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.R253C(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			GACCAGCAGGCGGCACTCATC	0.542000														153			36		0	0	1	0	0
MOB3A	126308	broad.mit.edu	37	19	2076839	2076839	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076839G>T	uc002luu.3	-	1	754	c.595C>A	c.(595-597)Ctc>Atc	p.L199I	MOB3A_uc002luv.3_Missense_Mutation_p.L199I	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	199						intracellular	metal ion binding										GTGTCGATGAGGCCGAACTCC	0.627000														79			19		1.01871e-10	1.15017e-10	1	1	0
HRASLS	57110	broad.mit.edu	37	3	192973503	192973503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:192973503G>A	uc003fta.3	+	1	469	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_020386	NP_065119	Q9HDD0	HRSL1_HUMAN	Homo sapiens HRAS-like suppressor (HRASLS), mRNA.	22										breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		GGACTTGATCGAAGTGTTCCG	0.478000														253			49		0	0	1	0	0
HAP1	9001	broad.mit.edu	37	17	39881248	39881248	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39881248G>T	uc002hxm.1	-	11	1733	c.1721C>A	c.(1720-1722)gCt>gAt	p.A574D	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.A522D|HAP1_uc002hxo.1_Missense_Mutation_p.A505D|HAP1_uc002hxp.1_Missense_Mutation_p.A497D	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	574	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	p.A522G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCCTTCCTCAGCCGGCACCTT	0.632000														761			33		1.22384e-17	1.4705e-17	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5784280	5784280	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5784280G>A	uc001iij.3	+	13	3173	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	850																	ATGTTCTGCAGACTCTCTGTT	0.428000														130			42		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841503	8841503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841503G>A	uc010xkg.2	+	0	113	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTTGTCATAGGCCTTCTGGGC	0.542000														169			8		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50820002G>A	uc001jhw.3	+	0	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	406					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637000														120			14		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147987	27147987	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147987C>T	uc011jzl.2	-	2	1079	c.879G>A	c.(877-879)tcG>tcA	p.S293S	HOXA3_uc003syk.3_Silent_p.S293S	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	293					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S293*(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGGGCGGGGGCGACTGGGGCT	0.706000														129			33		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8612995	8612995	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8612995G>A	uc002mkg.3	-	11	1332	c.1194C>T	c.(1192-1194)ttC>ttT	p.F398F		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	398	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.F398F(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAAACTGCTCGAAGCCATTTT	0.542000														342			66		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590924	86590924	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590924C>A	uc001dlj.3	-	2	1170	c.1095G>T	c.(1093-1095)gaG>gaT	p.E365D	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.E365D	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	365					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AGCTAAATTTCTCTTTGGTAT	0.398000														87			9		1.12685e-05	1.18529e-05	1	1	0
MYH8	4626	broad.mit.edu	37	17	10299984	10299984	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10299984C>T	uc002gmm.2	-	31	4509	c.4414G>A	c.(4414-4416)Gcc>Acc	p.A1472T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1472					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCTGGGAGGCCTCAAGTTCA	0.448000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					93			17		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140683087	140683087	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683087C>T	uc003ljf.3	-	0	526	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	116					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AATGCAGAGGCGAAGGACCCC	0.542000														264			17		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29963631	29963631	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963631G>A	uc011kaa.2	-	7	1296	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	SCRN1_uc011jzy.2_Missense_Mutation_p.A328V|SCRN1_uc003tak.3_Missense_Mutation_p.A396V|SCRN1_uc011jzz.2_Missense_Mutation_p.A396V|SCRN1_uc011jzw.2_Missense_Mutation_p.A263V|SCRN1_uc010kvp.3_Missense_Mutation_p.A396V|SCRN1_uc011jzx.2_Missense_Mutation_p.A219V	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	396					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCCACTTCCGCAGGGTCCAG	0.522000														168			40		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45667953	45667953	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45667953C>T	uc001wwd.4	+	21	5922	c.5823C>T	c.(5821-5823)acC>acT	p.T1941T	FANCM_uc010anf.3_Silent_p.T1915T|FANCM_uc001wwe.4_Silent_p.T1477T|FANCM_uc010ang.3_Silent_p.T1190T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1941	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGAAGAAACCGCAGATTTGC	0.413000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					100			19		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52493938	52493938	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52493938G>A	uc001wzo.3	-	11	2889	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	NID2_uc010tqs.2_Intron|NID2_uc010tqt.1_Silent_p.G885G|NID2_uc001wzp.3_Silent_p.G885G	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	885	EGF-like 4.					basement membrane	calcium ion binding|collagen binding	p.A884A(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGTGCCCATCGCCGGCATAAC	0.577000														52			14		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39851413	39851413	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851413T>C	uc021olw.1	+	20	9476	c.9476T>C	c.(9475-9477)gTa>gCa	p.V3159A	MACF1_uc021ols.1_Missense_Mutation_p.V2657A|MACF1_uc001cdc.2_Missense_Mutation_p.V2636A|MACF1_uc021olt.1_Missense_Mutation_p.V2657A|MACF1_uc001cda.1_Missense_Mutation_p.V2544A	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4724					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAGGCTGTAAAGCAGCAA	0.517000														84			18		0	0	1	0	0
METTL11A	28989	broad.mit.edu	37	9	132397705	132397705	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132397705G>A	uc004byd.1	+	3	828	c.634G>A	c.(634-636)Gat>Aat	p.D212N	METTL11A_uc011mbs.1_3'UTR|METTL11A_uc010myw.1_Non-coding_Transcript|ASB6_uc004bye.1_3'UTR|ASB6_uc004byf.2_3'UTR|ASB6_uc010myx.2_3'UTR|ASB6_uc004byg.2_3'UTR|ASB6_uc011mbt.2_3'UTR	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	212					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						GAACCTCCCCGATGAGATCTA	0.632000														262			62		0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220424002	220424002	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220424002G>A	uc010fwk.3	-	8	3485	c.3171C>T	c.(3169-3171)ggC>ggT	p.G1057G	OBSL1_uc002vmh.1_Silent_p.G48G|OBSL1_uc010zli.1_Silent_p.G48G|OBSL1_uc010fwl.2_Silent_p.G1057G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1057	Ig-like 8.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity	p.G1057G(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ATACAAACTCGCCCCCGTCCT	0.627000														328			57		0	0	1	0	0
SYT4	6860	broad.mit.edu	37	18	40853833	40853833	+	Silent	SNP	C	T	T	rs138240289		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853833C>T	uc002law.3	-	1	930	c.561G>A	c.(559-561)tcG>tcA	p.S187S	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Silent_p.S169S	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	187	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGAGGTCATCGACTGCTCAT	0.443000														87			24		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857875	59857875	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857875A>G	uc001nop.3	+	2	355	c.253A>G	c.(253-255)Att>Gtt	p.I85V	MS4A2_uc009ymu.3_Missense_Mutation_p.I85V|MS4A2_uc021qka.1_Intron	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	85					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	p.D84H(1)		endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TGTACTTGATATTTCACACAT	0.323000														122			34		0	0	1	0	0
FOXI1	2299	broad.mit.edu	37	5	169533265	169533265	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169533265C>T	uc003mai.4	+	0	349	c.304C>T	c.(304-306)Ctt>Ttt	p.L102F	FOXI1_uc003maj.4_Missense_Mutation_p.L102F	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	102					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGTGTCGGGGCTTGGGGGGAG	0.697000									Pendred syndrome					22			4		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834009	168834009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168834009C>T	uc011bpj.1	-	7	2054	c.1651G>A	c.(1651-1653)Gta>Ata	p.V551I	MECOM_uc010hwk.1_Missense_Mutation_p.V386I|MECOM_uc003ffj.3_Missense_Mutation_p.V428I|MECOM_uc003ffi.3_Missense_Mutation_p.V363I|MECOM_uc011bpi.1_Missense_Mutation_p.V364I|MECOM_uc003ffn.3_Missense_Mutation_p.V363I|MECOM_uc003ffk.2_Missense_Mutation_p.V363I|MECOM_uc003ffl.2_Missense_Mutation_p.V523I|MECOM_uc011bpk.1_Missense_Mutation_p.V363I|MECOM_uc010hwn.2_Missense_Mutation_p.V551I	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGTCCCCTACAGATGGGTGT	0.473000														117			28		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39667298	39667298	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667298C>T	uc002okj.1	+	8	1889	c.1428C>T	c.(1426-1428)gtC>gtT	p.V476V	PAK4_uc002okl.1_Silent_p.V476V|PAK4_uc002okn.1_Silent_p.V476V|PAK4_uc002okm.1_Silent_p.V323V|PAK4_uc002oko.1_Silent_p.V323V|PAK4_uc002okp.1_Silent_p.V386V	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	476	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AGTCGCTGGTCGGCACGCCCT	0.657000														414			93		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035526	88035526	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035526C>A	uc011ccz.2	+	11	1816	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H	AFF1_uc003hqj.4_Missense_Mutation_p.P507H|AFF1_uc003hqk.4_Missense_Mutation_p.P507H|AFF1_uc011cda.2_Missense_Mutation_p.P145H	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	507						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TAGCCTGAGCCTCCAACAACA	0.493000														72			7		2.0095e-06	2.13635e-06	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127014200	127014200	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014200G>T	uc010lla.2	-	4	1902	c.1190C>A	c.(1189-1191)cCt>cAt	p.P397H	ZNF800_uc003vlw.1_Missense_Mutation_p.P300H|ZNF800_uc003vlx.1_Missense_Mutation_p.P397H|ZNF800_uc003vly.1_Missense_Mutation_p.P397H	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						AGTATTATTAGGGCCTTTTTC	0.353000														103			11		1.33987e-11	1.52969e-11	1	1	0
MEGF6	1953	broad.mit.edu	37	1	3432077	3432077	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3432077C>T	uc001akl.3	-	5	846	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	MEGF6_uc001akk.3_Missense_Mutation_p.A102T	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	207	EGF-like 3.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TTGCCCAGGGCGCAGGAGTTA	0.662000														89			22		0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48446897	48446897	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48446897A>G	uc002ley.3	+	7	1065	c.806A>G	c.(805-807)tAc>tGc	p.Y269C	ME2_uc010dpd.3_Missense_Mutation_p.Y269C	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	269					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	TTGAGAAAGTACCGAGAAAAA	0.333000														41			17		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38475924	38475924	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38475924G>A	uc003tgu.3	-	11	1298	c.1082C>T	c.(1081-1083)cCc>cTc	p.P361L	AMPH_uc003tgv.3_Missense_Mutation_p.P361L|AMPH_uc003tgt.3_Missense_Mutation_p.P114L	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	361					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGTCACCTCGGGCTTGAAAGG	0.433000														69			15		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242553	126242553	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242553G>A	uc003ifj.4	+	0	4987	c.4987G>A	c.(4987-4989)Gtg>Atg	p.V1663M		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1663	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGAGGCCCCAGTGGAGTATTA	0.418000														158			35		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44803650	44803650	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44803650T>C	uc002xrm.2	-	10	2381	c.1982A>G	c.(1981-1983)gAa>gGa	p.E661G	CDH22_uc010ghk.1_Missense_Mutation_p.E661G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	661					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CCGCATGTCTTCATCCTCGTC	0.627000														126			30		0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17132334	17132334	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132334T>G	uc003wxj.3	+	4	862	c.509T>G	c.(508-510)aTc>aGc	p.I170S	VPS37A_uc003wxk.3_Missense_Mutation_p.I145S|VPS37A_uc003wxl.3_5'UTR	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	170					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		AACAGGAGTATCACTTCTTTA	0.438000														101			23		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215342	18215342	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215342G>T	uc003nco.1	+	12	1680	c.1605G>T	c.(1603-1605)cgG>cgT	p.R535R	KDM1B_uc003ncn.1_Silent_p.R506R|KDM1B_uc003ncp.1_Silent_p.R91R|KDM1B_uc003ncq.1_Silent_p.R91R	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	738					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						CCACGCTCCGGGAGCTGTTCA	0.607000														82			14		7.93312e-07	8.47869e-07	1	1	0
RTTN	25914	broad.mit.edu	37	18	67855345	67855345	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67855345A>G	uc002lkp.2	-	10	1373	c.1305_splice	c.e10+1	p.M435_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site|RTTN_uc002lkq.1_Splice_Site_p.M435_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	435							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATTCTTACCATATCTATACC	0.333000														43			12		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30362622	30362622	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30362622A>C	uc002hgu.3	+	6	2098	c.2087A>C	c.(2086-2088)aAg>aCg	p.K696T	LRRC37B_uc010wbx.2_Missense_Mutation_p.K614T|LRRC37B_uc010csu.3_Missense_Mutation_p.K645T	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	696						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				ACAACACTTAAGAACATTCTC	0.303000														150			39		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24471055	24471055	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24471055C>A	uc010tcw.2	-	0	91	c.71G>T	c.(70-72)aGg>aTg	p.R24M	C1QTNF9B_uc010tcv.1_5'UTR|C1QTNF9B_uc001uoz.1_Missense_Mutation_p.R24M|C1QTNF9B_uc010tcx.2_Missense_Mutation_p.R24M	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	24	Collagen-like 1.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						GTGCCCTTGCCTGCAGGTGTC	0.542000														197			14		3.32936e-07	3.57961e-07	1	1	0
GPR123	84435	broad.mit.edu	37	10	134942098	134942098	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942098C>T	uc001llw.3	+	15	2923	c.2923C>T	c.(2923-2925)Ctg>Ttg	p.L975L	GPR123_uc001llx.4_Silent_p.L256L			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	256						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCAGGCACAGCTGCGCGCCGC	0.701000														37			5		0	0	1	0	0
SNRNP40	9410	broad.mit.edu	37	1	31766156	31766156	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31766156G>A	uc010oge.2	-	1	227	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	SNRNP40_uc001bso.3_Silent_p.L61L	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	61						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						CCAGAGAGCAGCATGATTGGG	0.478000														63			11		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569449	58569449	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569449A>C	uc002ybe.3	+	10	1882	c.1571A>C	c.(1570-1572)gAt>gCt	p.D524A	CDH26_uc002ybf.1_Missense_Mutation_p.D104A|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GAGGCAGAGGATCCGGACCTG	0.547000														104			17		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	804251	804251	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:804251G>T	uc001lro.2	-	1	285	c.138C>A	c.(136-138)ggC>ggA	p.G46G	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_5'UTR|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_5'UTR|PIDD_uc001lrk.2_Silent_p.G46G|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	46					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										GCTGCTGGCAGCCCCCGGGGT	0.652000														81			28		2.61193e-14	3.06651e-14	1	1	0
GPR110	266977	broad.mit.edu	37	6	46989795	46989795	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46989795C>A	uc003oyt.3	-	6	651	c.452_splice	c.e6-1	p.K151_splice	GPR110_uc011dwl.2_Splice_Site|GPR110_uc003oyu.1_Splice_Site_p.K151_splice	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	151	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CCCCAAATCTCTGTAGGAAAT	0.274000														70			14		4.36969e-10	4.89342e-10	1	1	0
COLEC12	81035	broad.mit.edu	37	18	335154	335154	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335154C>A	uc002kkm.3	-	5	1619	c.1404G>T	c.(1402-1404)caG>caT	p.Q468H		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	468	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCCTTTCTGTCCCTTGT	0.617000														126			29		3.73988e-18	4.50785e-18	1	1	0
ITLN2	142683	broad.mit.edu	37	1	160914997	160914997	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160914997C>T	uc001fxd.3	-	7	969	c.911G>A	c.(910-912)gGa>gAa	p.G304E	ITLN2_uc009wts.3_Missense_Mutation_p.G303E|ITLN2_uc010pju.2_Missense_Mutation_p.G221E	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	304					signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACGTGAGTTCCATATCCATC	0.557000														95			22		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37868294	37868294	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37868294G>A	uc002hso.3	+	7	1253	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T	ERBB2_uc010cwa.3_Missense_Mutation_p.A324T|ERBB2_uc002hsm.3_Missense_Mutation_p.A309T|ERBB2_uc002hsp.3_Missense_Mutation_p.A142T|ERBB2_uc010cwb.3_Missense_Mutation_p.A339T|ERBB2_uc010wek.2_Missense_Mutation_p.A63T|ERBB2_uc002hsl.3_Missense_Mutation_p.A309T|ERBB2_uc002hsn.1_Missense_Mutation_p.A339T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	339					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAAGCCCTGTGCCCGAGGTAC	0.637000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				244			23		0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32571040	32571040	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32571040T>C	uc003cfb.4	-	10	1402	c.1298A>G	c.(1297-1299)aAc>aGc	p.N433S	DYNC1LI1_uc011axh.2_Missense_Mutation_p.N317S	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	433					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCTTTCATGTTTGGATCAAT	0.378000														30			6		0	0	1	0	0
CCDC124	115098	broad.mit.edu	37	19	18054174	18054174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18054174G>A	uc010xpz.2	+	3	499	c.454G>A	c.(454-456)Gca>Aca	p.A152T	CCDC124_uc002nhs.3_Missense_Mutation_p.A152T	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN	Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.	152							DNA binding			central_nervous_system(1)|kidney(2)	3						GGACGCCATTGCAGTGCTCAG	0.701000														16			3		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	265610	265610	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:265610A>G	uc021xka.1	-	3	1036	c.1036T>C	c.(1036-1038)Tcc>Ccc	p.S346P	ZNF732_uc011buu.1_Missense_Mutation_p.S314P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AGAACTGAGGACCTACTAAAG	0.393000														30			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141242946	141242946	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141242946A>T	uc002tvj.1	-	58	10363	c.9391T>A	c.(9391-9393)Ttt>Att	p.F3131I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3131					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TCTCTGGGAAACTTCAGCCTT	0.348000										TSP Lung(27;0.18)				60			20		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11984744	11984744	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11984744C>T	uc001ila.3	-	16	3772	c.3298G>A	c.(3298-3300)Ggt>Agt	p.G1100S	UPF2_uc001ilb.3_Missense_Mutation_p.G1100S|UPF2_uc001ilc.3_Missense_Mutation_p.G1100S	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	1100	Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF1 C- terminus.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TTAAGTCCACCGCCTTTAATC	0.333000														68			12		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461935	66461935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461935C>T	uc021xzk.1	+	28	7236	c.6928C>T	c.(6928-6930)Cca>Tca	p.P2310S	MAST4_uc003jut.2_Missense_Mutation_p.P2121S|MAST4_uc003juw.3_Missense_Mutation_p.P2049S|MAST4_uc003jux.3_Intron	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2313						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCGGGACACCCAGGGCCTAG	0.602000											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			15		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381090	147381090	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381090G>A	uc021ovm.1	+	0	1008	c.1008G>A	c.(1006-1008)ccG>ccA	p.P336P	GJA8_uc001epu.2_Silent_p.P336P	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	336					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCGAGGGGCCGCCTGCAGAGG	0.657000														35			10		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117159032	117159032	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117159032A>G	uc001egq.1	-	2	796	c.91T>C	c.(91-93)Tac>Cac	p.Y31H	IGSF3_uc001egr.1_Missense_Mutation_p.Y31H	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	31	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TCCGTGCGGTACAAGGGTCCT	0.527000														87			9		0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118426	58118426	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118426G>T	uc001jjx.1	-	6	720	c.683C>A	c.(682-684)gCt>gAt	p.A228D	ZWINT_uc001jjy.1_Missense_Mutation_p.A181D|ZWINT_uc001jka.1_Missense_Mutation_p.A228D|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	228					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCAGCCTCAGCCTCAGGGAA	0.537000														114			26		9.57634e-11	1.08211e-10	1	1	0
NSMAF	8439	broad.mit.edu	37	8	59512420	59512420	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59512420C>A	uc011lee.2	-	17	1496	c.1435G>T	c.(1435-1437)Gaa>Taa	p.E479*	NSMAF_uc003xtt.3_Nonsense_Mutation_p.E448*	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	448	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				CCATAGAATTCTGGAATTAAC	0.398000														79			19		4.35082e-09	4.81328e-09	1	1	0
ZNF473	25888	broad.mit.edu	37	19	50548036	50548036	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548036C>T	uc002prn.3	+	4	573	c.336C>T	c.(334-336)ttC>ttT	p.F112F	ZNF473_uc002prm.3_Silent_p.F112F|ZNF473_uc010ybo.2_Silent_p.F100F	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	112					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		ACTCCAATTTCGGAGAAGCCT	0.473000														97			21		0	0	1	0	0
NMRK1	54981	broad.mit.edu	37	9	77692434	77692434	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77692434C>T	uc004ajr.4	-	2	337	c.92G>A	c.(91-93)aGt>aAt	p.S31N	NMRK1_uc004ajs.4_Missense_Mutation_p.S35N|NMRK1_uc004ajt.4_Missense_Mutation_p.S31N	NM_017881	NP_060351	Q9NWW6	NRK1_HUMAN	Homo sapiens chromosome 9 open reading frame 95 (C9orf95), transcript variant 1, mRNA.	31					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity										AGATATGACACTGCAATTTGG	0.318000														76			18		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93617301	93617301	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93617301C>A	uc003drb.4	-	7	1181	c.840G>T	c.(838-840)aaG>aaT	p.K280N	PROS1_uc010hoo.3_Missense_Mutation_p.K149N|PROS1_uc003dqz.4_Missense_Mutation_p.K149N	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	280	EGF-like 4; calcium-binding (Potential).				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	CCTCACAACTCTTCTGATCTT	0.383000														71			14		3.27435e-08	3.57295e-08	1	1	0
ARMC2	84071	broad.mit.edu	37	6	109220981	109220981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109220981G>A	uc003pss.4	+	6	1007	c.833G>A	c.(832-834)cGt>cAt	p.R278H	ARMC2_uc011eao.2_Missense_Mutation_p.R113H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	278							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		CCGATTTTGCGTGAATTAGAA	0.353000														38			4		0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826258	13826258	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13826258G>A	uc010xaf.2	+	0	716	c.494G>A	c.(493-495)gGc>gAc	p.G165D		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	165					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						ATCATCGCCGGCATCTGGGCT	0.567000														675			177		0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45175635	45175635	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45175635G>A	uc002zdm.4	+	9	1014	c.816G>A	c.(814-816)caG>caA	p.Q272Q	PDXK_uc002zdn.4_Silent_p.Q244Q	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	272					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GGACCATCCAGTGTGCAAAAG	0.622000														213			18		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20681260	20681260	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20681260C>T	uc002dhm.1	-	4	869	c.801G>A	c.(799-801)tcG>tcA	p.S267S	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.S267S	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	267					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding	p.S267S(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						ATCCTGAGTCCGACAGGCACC	0.502000														88			19		0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2777179	2777179	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2777179C>T	uc002wgu.3	-	7	1113	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	CPXM1_uc010gas.3_Missense_Mutation_p.E347K	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	347					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	p.H346Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GTACCCAGCTCATGCTCCCCA	0.612000														231			50		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77170796	77170796	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77170796C>T	uc010xfg.2	+	1	974	c.521C>T	c.(520-522)gCc>gTc	p.A174V	NFATC1_uc002lnc.1_Missense_Mutation_p.A174V|NFATC1_uc010xff.1_Missense_Mutation_p.A174V|NFATC1_uc002lnd.3_Missense_Mutation_p.A174V|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.A174V|NFATC1_uc010xfi.1_Missense_Mutation_p.A161V|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.A161V|NFATC1_uc002lng.3_Missense_Mutation_p.A161V|NFATC1_uc010xfk.2_Missense_Mutation_p.A161V	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	174	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTGAGCCCGGCCAGCAGCCTG	0.662000														178			45		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64518890	64518890	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518890C>A	uc001oax.4	-	15	2693	c.1876G>T	c.(1876-1878)Gcc>Tcc	p.A626S	PYGM_uc001oay.4_Missense_Mutation_p.A538S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	626					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCCCCGATGGCTGTGACGAGT	0.607000														133			36		2.47316e-13	2.8801e-13	1	1	0
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121031011C>T	uc010rzo.2	+	13	4857	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1619	VWFD 4.		C -> S (in DFNA12; dbSNP:rs28939691).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.V1618L(1)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507000														243			50		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16264404	16264404	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16264404G>A	uc001axk.1	+	12	10811	c.10607G>A	c.(10606-10608)cGg>cAg	p.R3536Q	SPEN_uc010obp.1_Missense_Mutation_p.R3495Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3536	SPOC.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.R3536G(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTGGCCCATCGGTCCCTGCCC	0.622000														190			41		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7776892	7776892	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7776892G>A	uc001ijs.3	+	14	1957	c.1795G>A	c.(1795-1797)Gct>Act	p.A599T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	599					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGAAGCCTGGCTCCTACAGC	0.552000														264			16		0	0	1	0	0
NPBWR1	2831	broad.mit.edu	37	8	53852661	53852661	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53852661C>T	uc011ldu.2	+	0	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	65					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TTGCTGCGGGCGCCCCGCATG	0.657000														95			15		0	0	1	0	0
RNF13	11342	broad.mit.edu	37	3	149589892	149589892	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149589892G>A	uc003exn.4	+	4	1056	c.272G>A	c.(271-273)gGc>gAc	p.G91D	RNF13_uc003exp.4_Missense_Mutation_p.G91D|RNF13_uc010hvh.3_5'UTR	NM_007282	NP_899237	O43567	RNF13_HUMAN	Homo sapiens ring finger protein 13 (RNF13), transcript variant 1, mRNA.	91	PA.				protein autoubiquitination	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AATTCATCTGGCACTTTCATC	0.308000														42			5		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754363	6754363	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754363C>T	uc002mft.3	-	6	1365	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	SH2D3A_uc010xjg.2_Missense_Mutation_p.A269T	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	391					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCCCTCAGTGCGGCTGCGCGC	0.751000														24			4		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559326	140559326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559326G>A	uc011dai.2	+	0	1956	c.1711G>A	c.(1711-1713)Gcg>Acg	p.A571T	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	571	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATGGCTCCGCGCCCTGCAC	0.716000														347			40		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67364315	67364315	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67364315C>T	uc003xwb.4	+	8	896	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.R240W|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.R218W|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	288					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCACGCGCTGCGGATCGTGGC	0.567000														99			23		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151497153	151497153	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151497153C>T	uc009wmw.3	+	7	1549	c.1405C>T	c.(1405-1407)Ctg>Ttg	p.L469L		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	463	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCCAGGACCTGTTAGAGAC	0.478000														36			10		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111866170	111866170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866170G>A	uc001pml.3	+	16	1865	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	DIXDC1_uc001pmm.3_Missense_Mutation_p.R312H|DIXDC1_uc001pmn.3_Missense_Mutation_p.R230H|DIXDC1_uc010rwq.2_Missense_Mutation_p.R189H	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	524					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CGCAGCCTGCGCAACAGCTTC	0.572000														112			23		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11326479	11326479	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11326479C>T	uc002mqs.4	-	30	4060	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	DOCK6_uc010xlq.2_Missense_Mutation_p.R679H	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	1340					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTCTTACCACGACTTCGCCG	0.542000														129			26		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175850	57175850	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175850C>T	uc010ygn.2	-	1	944	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.T239M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCTGGTGCTCTATCAGGG	0.687000														82			18		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85689364	85689364	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85689364G>T	uc002fix.3	+	5	904	c.830G>T	c.(829-831)aGg>aTg	p.R277M	KIAA0182_uc002fiw.3_Missense_Mutation_p.R173M|KIAA0182_uc002fiy.3_Missense_Mutation_p.R204M	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	277							protein binding	p.L276L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						TCTGCCCTGAGGTCCCCGTTC	0.647000														122			18		1.45105e-14	1.70617e-14	1	1	0
XPOT	11260	broad.mit.edu	37	12	64818836	64818836	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64818836G>A	uc001ssb.3	+	12	1832	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	442					intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding	p.R442W(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGACTACACGGTTTATGGAAG	0.373000														101			22		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48736841	48736841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48736841C>T	uc001rrn.2	-	6	1494	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	ZNF641_uc001rro.2_Missense_Mutation_p.R397Q|ZNF641_uc010sls.2_Missense_Mutation_p.R388Q	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						GTGATGTTTTCGGCCAAAGCT	0.562000														205			38		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53288395	53288395	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53288395G>A	uc002ehb.3	+	16	4071	c.3907G>A	c.(3907-3909)Gtc>Atc	p.V1303I	CHD9_uc002egy.3_Missense_Mutation_p.V1303I|CHD9_uc002ehc.3_Missense_Mutation_p.V1303I|CHD9_uc002ehf.3_Missense_Mutation_p.V417I|CHD9_uc002ehg.2_Missense_Mutation_p.V417I|CHD9_uc002ehd.2_Missense_Mutation_p.V829I	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1303	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGCAGTTAAAGTCTACAGACT	0.388000														181			40		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406917	2406917	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406917C>T	uc022brx.1	-	0	1844	c.1844G>A	c.(1843-1845)cGc>cAc	p.R615H	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.R615H|ZBED1_uc004cqg.2_Missense_Mutation_p.R615H|ZBED1_uc022brw.1_Missense_Mutation_p.R615H	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	615						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGGCGACGCGCGTGGCCGT	0.662000														387			111		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86491742	86491742	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86491742G>A	uc003hpk.3	+	1	497	c.48G>A	c.(46-48)ggG>ggA	p.G16G	ARHGAP24_uc003hpi.1_Silent_p.G16G|ARHGAP24_uc003hpj.3_Silent_p.G16G	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	16					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		AAGGCCAAGGGCGGCAGAATG	0.483000														72			18		0	0	1	0	0
MDM2	4193	broad.mit.edu	37	12	69222680	69222680	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69222680G>T	uc021rad.1	+	6	806	c.332G>T	c.(331-333)aGc>aTc	p.S111I	MDM2_uc001sui.3_Missense_Mutation_p.S218I|MDM2_uc009zqx.3_Missense_Mutation_p.S163I|MDM2_uc009zqy.1_Missense_Mutation_p.S207I|MDM2_uc021rae.1_Missense_Mutation_p.S207I|MDM2_uc001sun.4_Intron|MDM2_uc009zra.3_Intron|MDM2_uc021raf.1_5'UTR|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Intron|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Intron|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Intron|MDM2_uc021rah.1_Missense_Mutation_p.S182I|MDM2_uc021rai.1_Intron|MDM2_uc021raj.1_5'UTR			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	212					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			AGAAGCAGTAGCAGTGAATCT	0.418000			A		"""sarcoma, glioma, colorectal, other"""									185			21		8.04996e-18	9.68579e-18	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40103869	40103869	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40103869A>G	uc003guy.4	+	3	742	c.404A>G	c.(403-405)gAc>gGc	p.D135G	N4BP2_uc010ifq.3_Missense_Mutation_p.D55G|N4BP2_uc010ifr.3_Missense_Mutation_p.D55G	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	135						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCATTTTTGGACATGCAGCTA	0.373000														112			23		0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172634947	172634947	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172634947A>G	uc001gis.3	+	3	794	c.637A>G	c.(637-639)Atg>Gtg	p.M213V	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	213					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						CAAGGTCTACATGAGGAACTC	0.512000														172			33		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734864	92734864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734864G>A	uc003umf.3	-	2	817	c.547C>T	c.(547-549)Cct>Tct	p.P183S	SAMD9_uc003umg.3_Missense_Mutation_p.P183S|SAMD9_uc022ahg.1_Missense_Mutation_p.P183S	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	183						cytoplasm		p.P183P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CCTGTTTCAGGCTGTAGACTA	0.388000														173			45		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	140602	140602	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140602G>T	uc003jak.2	+	0	230	c.180G>T	c.(178-180)aaG>aaT	p.K60N		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	60					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCTAGAGAAGGAGAGGCACA	0.662000														27			4		0.00909568	0.00920877	1	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43692416	43692416	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43692416C>T	uc001zro.3	+	13	1836	c.1596C>T	c.(1594-1596)ctC>ctT	p.L532L	TUBGCP4_uc001zrn.3_Silent_p.L531L|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	532					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTACTATCTCCAGGTCTGTG	0.443000														115			23		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658916	55658916	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658916C>T	uc010rip.2	+	6	1259	c.1167C>T	c.(1165-1167)tgC>tgT	p.C389C	TRIM51_uc010riq.2_Silent_p.C246C	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	389	B30.2/SPRY.					intracellular	zinc ion binding										ACACTCACTGCAGTCTCTTTA	0.448000														98			24		0	0	1	0	0
SP4	6671	broad.mit.edu	37	7	21521598	21521598	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21521598G>A	uc003sva.3	+	4	2145	c.1964G>A	c.(1963-1965)gGt>gAt	p.G655D	SP4_uc003svb.3_Missense_Mutation_p.G342D	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	655					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GAAGGATGTGGTAAAGTTTAT	0.373000														136			35		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123049816	123049816	+	Silent	SNP	G	A	A	rs148753023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123049816G>A	uc003egh.2	-	4	1566	c.1566C>T	c.(1564-1566)tgC>tgT	p.C522C	ADCY5_uc021xdd.1_Silent_p.C172C|ADCY5_uc003egg.2_Silent_p.C155C|ADCY5_uc003egi.1_Silent_p.C81C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	522	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCCCCGAGACGCAGTAATAAC	0.483000														72			15		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9546846	9546846	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9546846C>T	uc002wnl.2	-	5	1721	c.1176G>A	c.(1174-1176)tcG>tcA	p.S392S	PAK7_uc002wnk.2_Silent_p.S392S|PAK7_uc002wnj.2_Silent_p.S392S|PAK7_uc010gby.1_Silent_p.S392S	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	392	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.S392S(2)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGATGTACTGCGAACTGCTCT	0.597000														197			43		0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15753776	15753776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15753776C>T	uc001awh.2	+	2	664	c.587C>T	c.(586-588)gCc>gTc	p.A196V		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	196						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTTTGAGGCCAAGGTGAGG	0.642000														27			3		0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777647	123777647	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123777647G>T	uc010saa.2	+	0	509	c.509G>T	c.(508-510)gGa>gTa	p.G170V		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418000														327			26		7.76418e-22	9.54963e-22	1	1	0
LOC729156	729156	broad.mit.edu	37	7	66301765	66301765	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66301765C>T	uc003tvj.1	-	3		c.302G>A								Homo sapiens GTF2I repeat domain containing 1-like (LOC729156), non-coding RNA.																		TCCACAGGGGCCGGATCACGT	0.582000														42			4		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7926650	7926650	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7926650G>T	uc002knn.4	+	4	1135	c.632G>T	c.(631-633)aGg>aTg	p.R211M	PTPRM_uc010dkv.3_Missense_Mutation_p.R211M	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	211	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCCATCGGCAGGACCGTGGCA	0.507000														107			22		1.10513e-12	1.27896e-12	1	1	0
TTYH3	80727	broad.mit.edu	37	7	2697971	2697971	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2697971G>A	uc003smp.3	+	11	1489	c.1302G>A	c.(1300-1302)gcG>gcA	p.A434A	TTYH3_uc010ksn.3_Silent_p.A154A|TTYH3_uc003smq.3_Silent_p.A263A	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	434						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCGGCAGGCGCACGACAGCC	0.701000														53			8		0	0	1	0	0
STAT5A	6776	broad.mit.edu	37	17	40452779	40452779	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40452779C>T	uc002hzj.2	+	8	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	STAT5A_uc010cya.2_Missense_Mutation_p.R294C|STAT5A_uc010cyb.2_Missense_Mutation_p.R294C|STAT5A_uc010cyc.2_Missense_Mutation_p.R264C	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	294					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCAGCAGATCCGCAGGGCTGA	0.622000														87			17		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154569664	154569664	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154569664C>T	uc001ffh.3	-	4	2256	c.2014G>A	c.(2014-2016)Gcc>Acc	p.A672T	ADAR_uc021pag.1_Missense_Mutation_p.A377T|ADAR_uc001ffj.3_Missense_Mutation_p.A672T|ADAR_uc001ffi.3_Missense_Mutation_p.A672T|ADAR_uc001ffk.3_Missense_Mutation_p.A377T	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	672	DRBM 2.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCCTCTGCGGCCATCTGCTTT	0.532000														133			24		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303313	6303313	+	Silent	SNP	C	T	T	rs141883293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303313C>T	uc003giy.3	+	7	1957	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	WFS1_uc003gix.3_Silent_p.I597I|WFS1_uc003giz.3_Silent_p.I415I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	597					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCACCAAGATCGCAGTCACCG	0.647000														295			12		0	0	1	0	0
RPS6	6194	broad.mit.edu	37	9	19378800	19378800	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19378800T>C	uc003znv.1	-	2	297	c.255A>G	c.(253-255)agA>agG	p.R85R	RPS6_uc003znw.1_Silent_p.R54R	NM_001010	NP_001001	P62753	RS6_HUMAN	Homo sapiens ribosomal protein S6 (RPS6), mRNA.	85					TOR signaling cascade|endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		TTCTCCTTGGTCTGTAACAGG	0.478000														68			11		0	0	1	0	0
NCALD	83988	broad.mit.edu	37	8	102731833	102731833	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102731833G>A	uc003yke.3	-	1	394	c.25C>T	c.(25-27)Cgc>Tgc	p.R9C	NCALD_uc003ykf.3_Missense_Mutation_p.R9C|NCALD_uc003ykg.3_Missense_Mutation_p.R9C|NCALD_uc003ykh.3_Missense_Mutation_p.R9C|NCALD_uc003yki.3_Missense_Mutation_p.R9C|NCALD_uc003ykj.3_Missense_Mutation_p.R9C|NCALD_uc003ykk.3_Missense_Mutation_p.R9C|NCALD_uc003ykl.3_Missense_Mutation_p.R9C	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	9					synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			ACCTCCGGGCGCAGCTTGCTG	0.478000														111			22		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070734	9070734	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9070734G>A	uc002mkp.3	-	2	16916	c.16712C>T	c.(16711-16713)aCt>aTt	p.T5571I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5573	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						AGCCCCAGGAGTAGTTGTTTG	0.512000														276			61		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45271006	45271006	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271006G>A	uc001cmn.3	+	13	1804	c.1704G>A	c.(1702-1704)aaG>aaA	p.K568K		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	568	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					AGTGGGTCAAGACGGATCAGG	0.602000														148			39		0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21306927	21306927	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21306927G>A	uc002wsf.1	+	1	181	c.86G>A	c.(85-87)tGc>tAc	p.C29Y	XRN2_uc002wsg.1_Intron|XRN2_uc010zsk.1_5'UTR	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	29					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding	p.E28K(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCAAAAGAATGCAATGGTGTA	0.343000														57			9		0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69125432	69125432	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69125432G>A	uc001suf.3	+	21	2046	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.R615Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	644					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353000														78			5		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884416	53884416	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53884416A>C	uc010eqn.3	+	3	669	c.476A>C	c.(475-477)aAt>aCt	p.N159T	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						TATGGGGATAATTTTCTGAAT	0.368000														135			7		0	0	1	0	0
CCL27	10850	broad.mit.edu	37	9	34662348	34662348	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34662348G>T	uc003zvm.1	-	1	195	c.136C>A	c.(136-138)Cta>Ata	p.L46I		NM_006664	NP_006655	Q9Y4X3	CCL27_HUMAN	Homo sapiens chemokine (C-C motif) ligand 27 (CCL27), mRNA.	46					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTCCTCAGTAGCTTGTCTGAG	0.582000														86			17		6.94344e-10	7.75807e-10	1	1	0
IGF2R	3482	broad.mit.edu	37	6	160497015	160497015	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160497015G>A	uc003qta.3	+	35	5451	c.5303G>A	c.(5302-5304)aGa>aAa	p.R1768K		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1768					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)		CACTGTAAGAGAGGTGTGAGC	0.473000														163			35		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415658	145415658	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145415658T>C	uc001eni.2	+	2	802	c.477T>C	c.(475-477)ggT>ggC	p.G159G	HFE2_uc001enk.2_Silent_p.G46G|HFE2_uc001enj.2_Intron|HFE2_uc001enl.2_Intron|HFE2_uc021oux.1_5'Flank	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	159					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCTGCATGGTCGTCCCCCGG	0.687000														121			44		0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107309826	107309826	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107309826C>T	uc010rvp.2	-	5	684	c.654G>A	c.(652-654)tcG>tcA	p.S218S	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	218							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CTTTAGTAATCGATGACACAC	0.388000														27			5		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148251966	148251966	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148251966C>A	uc001erd.4	-	18	2584	c.2513G>T	c.(2512-2514)aGc>aTc	p.S838I	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Intron|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Intron|NBPF14_uc021owj.1_Missense_Mutation_p.S484I|NBPF14_uc021owk.1_Missense_Mutation_p.S240I|NBPF14_uc021owl.1_Missense_Mutation_p.S728I|NBPF14_uc001erb.3_Missense_Mutation_p.S452I|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc010paj.2_Missense_Mutation_p.S337I			Q5TI25	NBPFE_HUMAN	SubName: Full=Uncharacterized protein;	479	NBPF 10.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGGGCGAAGCTGATGTGCTG	0.438000														307			55		1.59245e-42	2.02652e-42	1	1	0
HRC	3270	broad.mit.edu	37	19	49656971	49656971	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49656971G>A	uc002pmv.3	-	0	1711	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552000														82			16		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194818	113194818	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113194818G>T	uc010mtz.3	-	30	5494	c.5157C>A	c.(5155-5157)ggC>ggA	p.G1719G		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1719	Sushi 6.				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						ATAGATAGTAGCCATTGTTGC	0.493000														138			28		2.48779e-11	2.83162e-11	1	1	0
ZNF546	339327	broad.mit.edu	37	19	40504294	40504294	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40504294C>T	uc002oms.2	+	2	317	c.61C>T	c.(61-63)Cct>Tct	p.P21S	ZNF546_uc002omt.2_Intron	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCAAATCATTCCTCTGCACTC	0.403000														84			10		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735160	52735160	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735160C>A	uc001wzq.3	+	0	730	c.628C>A	c.(628-630)Ctg>Atg	p.L210M		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	210						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CATGGCGCTGCTGGTCCTCGC	0.667000														181			37		4.62619e-21	5.66726e-21	1	1	0
PITRM1	10531	broad.mit.edu	37	10	3189841	3189841	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3189841G>A	uc009xhv.2	-	18	2230	c.2161C>T	c.(2161-2163)Ctg>Ttg	p.L721L	PITRM1_uc001igr.2_Silent_p.L720L|PITRM1_uc001igt.2_Silent_p.L720L|PITRM1_uc010qah.2_Silent_p.L622L|PITRM1_uc001igu.1_Silent_p.L646L|PITRM1_uc010qai.2_Silent_p.L691L|LOC100507034_uc001igv.2_Non-coding_Transcript	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	622					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						GATGCGTACAGGTGCCCAGAG	0.592000														283			27		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47753293	47753293	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47753293G>A	uc001crd.1	-	9	1218	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L308L|STIL_uc010omo.1_Silent_p.L355L|STIL_uc001crc.1_Silent_p.L355L|STIL_uc001cre.1_Silent_p.L355L|STIL_uc001crg.1_Silent_p.L308L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	355					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCAGCGCTCAGTTCACAACGG	0.343000														39			11		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48502115	48502115	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48502115A>C	uc003gyh.1	-	62	9320	c.8715T>G	c.(8713-8715)atT>atG	p.I2905M	FRYL_uc003gye.1_Missense_Mutation_p.I87M|FRYL_uc003gyf.1_Missense_Mutation_p.I295M|FRYL_uc003gyg.1_Missense_Mutation_p.I1595M	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2905					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTAAAGAATGAATGGCAGTTT	0.373000														75			14		0	0	1	0	0
XKR8	55113	broad.mit.edu	37	1	28293620	28293620	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28293620A>G	uc001bph.1	+	2	1174	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C		NM_018053	NP_060523	Q9H6D3	XKR8_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 8 (XKR8), mRNA.	366						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		CCAGAGGGGTATCAGCTGCCT	0.587000														166			19		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71188217	71188217	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71188217G>A	uc010ukf.2	+	2	456	c.150G>A	c.(148-150)tcG>tcA	p.S50S	LRRC49_uc002asu.3_Silent_p.S35S|LRRC49_uc002asx.3_5'UTR|LRRC49_uc002asw.3_Silent_p.S45S|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_5'UTR	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323000														47			14		0	0	1	0	0
H19	283120	broad.mit.edu	37	11	2016496	2016496	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2016496A>G	uc021qbx.1	-	0		c.308T>C			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		GCGTAATGGAATGCTTGAAGG	0.612000									Beckwith-Wiedemann syndrome					115			39		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60741867	60741867	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60741867T>G	uc002agp.3	-	9	1534	c.1299A>C	c.(1297-1299)acA>acC	p.T433T	NARG2_uc002ago.3_Silent_p.T296T|NARG2_uc002agq.4_Silent_p.T101T	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	433						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CTTTGGGGGCTGTAGGAGCAT	0.428000														181			51		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4881757	4881757	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4881757C>T	uc001qne.1	+	10	2000	c.1908C>T	c.(1906-1908)agC>agT	p.S636S		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	636						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						AGACCAACAGCCAGTGATCCT	0.498000														70			14		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59277343	59277343	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59277343T>C	uc001sqr.3	-	10	1521	c.1275A>G	c.(1273-1275)ttA>ttG	p.L425L	LRIG3_uc009zqh.3_Silent_p.L365L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	425						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATTGCCTTGTAAAGACATGA	0.383000			T	ROS1	NSCLC									71			12		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186034555	186034555	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186034555G>A	uc001grq.1	+	48	7928	c.7699G>A	c.(7699-7701)Gta>Ata	p.V2567I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2567					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTCTTAATGTATTTGGTAG	0.398000														42			7		0	0	1	0	0
SLC6A16	28968	broad.mit.edu	37	19	49812269	49812269	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49812269G>T	uc002pmz.3	-	6	1327	c.1093C>A	c.(1093-1095)Ccc>Acc	p.P365T	SLC6A16_uc002pna.3_Missense_Mutation_p.P365T|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	365						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TTGGACTGGGGCATGTAGGAG	0.488000														197			40		2.19489e-29	2.76037e-29	1	1	0
SCNN1D	6339	broad.mit.edu	37	1	1225717	1225717	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1225717C>T	uc001adt.1	+	12	1955	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	SCNN1D_uc001adu.1_Missense_Mutation_p.P413S|SCNN1D_uc001adw.2_Missense_Mutation_p.P479S|SCNN1D_uc001adv.2_Missense_Mutation_p.P413S|SCNN1D_uc001adx.2_Missense_Mutation_p.P202S	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTACCTCCACCCTCTGCCGGC	0.667000														117			14		0	0	1	0	0
MS4A6A	64231	broad.mit.edu	37	11	59949188	59949188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59949188G>A	uc010rla.2	-	2	570	c.97C>T	c.(97-99)Cct>Tct	p.P33S	MS4A6A_uc001noq.3_Missense_Mutation_p.P5S|MS4A6A_uc009ymv.3_Missense_Mutation_p.P5S|MS4A6A_uc001not.3_Missense_Mutation_p.P5S|MS4A6A_uc010rlb.2_Missense_Mutation_p.P5S	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	5						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAACAGGTTGTGATGTC	0.443000														181			30		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154002724	154002724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154002724C>T	uc003ezy.4	-	17	2165	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	DHX36_uc010hvq.3_Missense_Mutation_p.R681Q|DHX36_uc003ezz.4_Missense_Mutation_p.R695Q	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	695						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACGGGTAATCGTGCCAAGTG	0.403000														92			15		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913250	28913250	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913250G>A	uc002dro.1	+	15	2351	c.2167G>A	c.(2167-2169)Ggc>Agc	p.G723S	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.G723S|ATP2A1_uc002drp.1_Missense_Mutation_p.G598S	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	723					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGATCTGGCACTGCCGT	0.597000														89			12		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835916	247835916	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835916C>T	uc001idi.1	-	0	428	c.428G>A	c.(427-429)aGc>aAc	p.S143N		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGACCATGCTGAGCAAGGC	0.468000														112			26		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73449901	73449901	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73449901C>T	uc002siw.2	+	6	690	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	SMYD5_uc010yre.1_Missense_Mutation_p.R105W	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGAACTTCTGCGGAGACTCTT	0.587000														46			6		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317762	9317762	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9317762G>T	uc001qvl.3	-	18	2489	c.2460C>A	c.(2458-2460)gtC>gtA	p.V820V	PZP_uc009zgl.3_Silent_p.V689V|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Silent_p.V152V	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.T819M(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						GGTAGTTTAGGACCGTGGCCT	0.493000														125			23		7.38237e-10	8.2451e-10	1	1	0
PSAP	5660	broad.mit.edu	37	10	73588645	73588645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588645G>A	uc001jsm.3	-	4	669	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	189					glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTTGGCTGGGGCTTGCTGCGG	0.582000														95			21		0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33701722	33701722	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33701722C>A	uc002num.2	-	7	1246	c.1099G>T	c.(1099-1101)Gcc>Tcc	p.A367S	SLC7A10_uc002nul.2_Missense_Mutation_p.A214S	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	367					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					ACGAGGAGGGCGGGGATGGGG	0.667000														283			69		1.38705e-31	1.74947e-31	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91804434	91804434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91804434G>A	uc010aty.3	-	9	1119	c.965C>T	c.(964-966)gCg>gTg	p.A322V		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	322					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CACGCGGTTCGCCTTCTCCCG	0.622000														126			27		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8731458	8731458	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8731458G>A	uc002glq.1	-	11	1603	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	455					platelet activation	cytosol											ATGTAGTAGAGCTGCAGGCTG	0.652000														173			17		0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44418337	44418337	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44418337C>T	uc002oxu.2	-	3	1350	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	ZNF45_uc002oxw.2_Silent_p.Q417Q	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	417					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						ATGCATCACACTGATACGGTT	0.468000														164			35		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51457767	51457767	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457767G>A	uc003dbe.2	-	13	2683	c.2498C>T	c.(2497-2499)gCc>gTc	p.A833V	VPRBP_uc021wys.1_Missense_Mutation_p.A832V|VPRBP_uc003dbf.1_Missense_Mutation_p.A162V	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	886					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGGGGTAAAGGCAGAAGAATG	0.527000														149			30		0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743036	234743036	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743036G>A	uc001hwg.3	-	1	1642	c.1611C>T	c.(1609-1611)agC>agT	p.S537S	IRF2BP2_uc009xfw.3_Silent_p.S147S|IRF2BP2_uc001hwf.3_Silent_p.S521S	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	537	Cys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q536K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GCTGTTTGATGCTTTGTCTGG	0.567000														216			64		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28878779	28878779	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28878779A>C	uc001iuf.3	+	5	585	c.497_splice	c.e5+1	p.R166_splice	WAC_uc001iud.3_Splice_Site_p.R121_splice|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Splice_Site_p.R121_splice|WAC_uc001iug.3_Splice_Site_p.R166_splice|WAC_uc001iuh.3_Splice_Site_p.R121_splice	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	166					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GTGGCTTGAAAGGTAATTAGC	0.323000														67			14		0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032837	43032837	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43032837G>T	uc003bcz.3	-	1	121	c.37C>A	c.(37-39)Ctc>Atc	p.L13I	CYB5R3_uc011aps.2_Missense_Mutation_p.L46I|CYB5R3_uc021wqn.1_5'UTR|CYB5R3_uc003bcy.3_5'UTR|CYB5R3_uc003bcx.3_5'UTR	NM_000398	NP_000389	P00387	NB5R3_HUMAN	Homo sapiens cytochrome b5 reductase 3 (CYB5R3), transcript variant 1, mRNA.	13					blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	ACTGGGAAGAGCACCATATGG	0.607000														64			13		4.14922e-12	4.76557e-12	1	1	0
USH2A	7399	broad.mit.edu	37	1	215820899	215820899	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215820899G>T	uc001hku.1	-	66	15143	c.14756C>A	c.(14755-14757)gCt>gAt	p.A4919D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4919	Fibronectin type-III 34.				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)		CCACTCGGAAGCCGTACTGCC	0.542000										HNSCC(13;0.011)				120			7		0.248553	0.24885	1	1	0
ZNF876P	642280	broad.mit.edu	37	4	248351	248351	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:248351C>T	uc010iba.3	+	1		c.1185C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		TCACACCTTACTAAACATAAG	0.373000														21			5		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34923064	34923064	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34923064G>A	uc002yse.1	+	2	1576	c.1527G>A	c.(1525-1527)acG>acA	p.T509T	SON_uc002ysb.1_Silent_p.T509T|SON_uc002ysc.3_Silent_p.T509T|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.T155T|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	509					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACCTGTGACGACGACAGAGT	0.582000														318			35		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87379700	87379700	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87379700C>T	uc001kdl.1	-	13	2385	c.2284G>A	c.(2284-2286)Ggc>Agc	p.G762S	GRID1_uc009xsu.1_Intron|GRID1_uc010qmf.1_Missense_Mutation_p.G333S	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	762						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I761I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	ATGCTGTTGCCGATGACAGTC	0.582000										Multiple Myeloma(13;0.14)				112			11		0	0	1	0	0
MYEF2	50804	broad.mit.edu	37	15	48441415	48441415	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48441415C>T	uc001zwi.4	-	14	1656	c.1532G>A	c.(1531-1533)gGa>gAa	p.G511E	MYEF2_uc001zwg.4_Missense_Mutation_p.G49E|MYEF2_uc001zwh.4_Missense_Mutation_p.G99E|MYEF2_uc001zwj.4_Missense_Mutation_p.G487E	NM_016132	NP_057216	Q9P2K5	MYEF2_HUMAN	Homo sapiens myelin expression factor 2 (MYEF2), mRNA.	511	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|RNA binding|nucleotide binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		CATTCCGCTTCCCATTGGACC	0.393000														166			31		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344805	56344805	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56344805A>G	uc001niz.1	-	0	393	c.393T>C	c.(391-393)caT>caC	p.H131H	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TGGAACTGTAATGTAAAGGGC	0.458000														110			30		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25251633	25251633	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251633G>A	uc003abg.2	+	7	944	c.787G>A	c.(787-789)Gtt>Att	p.V263I	SGSM1_uc010guu.1_Missense_Mutation_p.V263I|SGSM1_uc003abh.2_Missense_Mutation_p.V263I|SGSM1_uc003abj.2_Missense_Mutation_p.V263I|SGSM1_uc003abi.1_Missense_Mutation_p.V238I|SGSM1_uc003abf.2_Missense_Mutation_p.V263I	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	263						Golgi apparatus	Rab GTPase activator activity	p.V263V(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAAAACAACGTTCTTGTTCA	0.552000														71			16		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10725412	10725412	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10725412C>A	uc001aro.3	-	4	553	c.233G>T	c.(232-234)cGc>cTc	p.R78L	CASZ1_uc001arp.1_Missense_Mutation_p.R78L|CASZ1_uc009vmx.2_Missense_Mutation_p.R102L	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R78H(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTCCTCGCTGCGGGGGGCCCG	0.701000														182			62		2.67592e-24	3.32475e-24	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141747212	141747212	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141747212G>A	uc002tvj.1	-	16	3631	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	LRP1B_uc010fnl.1_Intron|Y_RNA_uc021vqd.1_5'Flank	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TGATCATCAGGACAGCTATGA	0.383000										TSP Lung(27;0.18)				140			12		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140374823	140374823	+	Missense_Mutation	SNP	G	A	A	rs150851825	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140374823G>A	uc010ncj.1	-	22	2858	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	PNPLA7_uc004cnd.1_Missense_Mutation_p.R82C|PNPLA7_uc004cne.1_Missense_Mutation_p.R82C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R224C|PNPLA7_uc004cnf.2_Missense_Mutation_p.R816C	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	816					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.R816C(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGGCCTGGCGCACGCAGCGC	0.687000														141			17		0	0	1	0	0
C1QBP	708	broad.mit.edu	37	17	5336648	5336648	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5336648T>C	uc002gby.1	-	4	742	c.664A>G	c.(664-666)Act>Gct	p.T222A		NM_001212	NP_001203	Q07021	C1QBP_HUMAN	Homo sapiens complement component 1, q subcomponent binding protein (C1QBP), nuclear gene encoding mitochondrial protein, mRNA.	222					blood coagulation, intrinsic pathway|immune response|interspecies interaction between organisms	mitochondrial matrix|nucleus|plasma membrane				lung(2)|ovary(1)	3						GTATAATTAGTATCCTTCCAT	0.478000														151			39		0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631667	90631667	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631667C>T	uc002box.3	-	4	688	c.602G>A	c.(601-603)gGc>gAc	p.G201D	IDH2_uc010uqb.2_Missense_Mutation_p.G149D|IDH2_uc010uqc.2_Missense_Mutation_p.G71D	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	201					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GACACCACTGCCATCTTTTGG	0.587000			M		GBM									202			56		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159834607	159834607	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159834607G>A	uc003lyg.3	-	10	1156	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	334					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTGTCATAGGCTTCCCATGC	0.388000														64			11		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941494	6941494	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941494G>A	uc002geh.3	+	2	675	c.367G>A	c.(367-369)Gct>Act	p.A123T		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	123						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TTTGACCTTCGCTCCGACCCT	0.587000														162			33		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767471	57767471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57767471C>T	uc002yan.3	+	0	1397	c.1397C>T	c.(1396-1398)gCc>gTc	p.A466V		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	466						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGTAGGAGGGCCCCGGGCCCC	0.662000														159			35		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127529488	127529488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127529488C>T	uc001ljf.1	-	7	2112	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.E165K|DHX32_uc001ljg.1_Missense_Mutation_p.E541K|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	541						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGATCTCCTTCGGGATGTAAA	0.413000														184			49		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867626	45867626	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45867626C>T	uc010zxy.1	-	14	2644	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	ZMYND8_uc010ghq.1_Intron|ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Silent_p.T755T|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc002xta.1_Silent_p.T827T|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Silent_p.T827T|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Silent_p.T827T|ZMYND8_uc002xtf.1_Silent_p.T847T|ZMYND8_uc002xtg.3_Silent_p.T821T|ZMYND8_uc010ghs.2_Silent_p.T821T|ZMYND8_uc002xsr.1_Intron	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	827	Poly-Gln.						protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TTTGGGAGGACGTTTGAAACT	0.572000														248			44		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81472066	81472066	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81472066C>T	uc001szl.1	+	0	258	c.167C>T	c.(166-168)tCc>tTc	p.S56F	ACSS3_uc001szm.1_Missense_Mutation_p.S56F	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	56						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACTGTCCTCCGGCAGTGGC	0.711000														87			17		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72434219	72434219	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72434219G>A	uc004ebi.3	-	0	492	c.110C>T	c.(109-111)gCc>gTc	p.A37V		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	37					nucleosome assembly	chromatin assembly complex		p.A37V(2)|p.A37T(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CCCAGCAGCGGCATCTTCACC	0.577000														126			35		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113937793	113937793	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113937793A>G	uc009xxy.2	-	4	458	c.248T>C	c.(247-249)aTc>aCc	p.I83T	GPAM_uc001kzp.3_Missense_Mutation_p.I83T|GPAM_uc001kzq.1_Missense_Mutation_p.I83T	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	83					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		CAAAGACGGGATACTGGGGTT	0.308000														54			13		0	0	1	0	0
C3orf79	152118	broad.mit.edu	37	3	153220229	153220229	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153220229C>A	uc003ezt.3	+	2	323	c.261C>A	c.(259-261)ggC>ggA	p.G87G		NM_001101337	NP_001094807	P0CE67	CC079_HUMAN	Homo sapiens chromosome 3 open reading frame 79 (C3orf79), mRNA.	87										endometrium(1)|large_intestine(3)	4						TACAGAGAGGCTCCTTTGCAA	0.428000														86			17		8.34094e-07	8.90579e-07	1	1	0
TSSK2	23617	broad.mit.edu	37	22	19119459	19119459	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119459G>A	uc002zow.2	+	0	1139	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	183	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					AGCATATGCAGCCCCCGAGGT	0.597000														245			57		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295806	62295806	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62295806G>A	uc001ntl.3	-	4	6383	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2028					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCATTTTGGGTCCTTTGAT	0.493000														660			130		0	0	1	0	0
ARID5B	84159	broad.mit.edu	37	10	63852705	63852705	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63852705C>T	uc001jlt.2	+	9	3939	c.3483C>T	c.(3481-3483)agC>agT	p.S1161S	ARID5B_uc001jlu.2_Silent_p.S918S	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	1161					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)					TGCATAACAGCATTTACCCTT	0.483000														200			43		0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12032953	12032953	+	Missense_Mutation	SNP	G	A	A	rs149425237	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12032953G>A	uc010obb.2	+	18	2181	c.2068G>A	c.(2068-2070)Gtc>Atc	p.V690I	PLOD1_uc001atm.3_Missense_Mutation_p.V643I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	643	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCTTTGTCGTCCGCTACAA	0.577000														152			13		0	0	1	0	0
KRT7	3855	broad.mit.edu	37	12	52627084	52627084	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52627084T>C	uc001saa.1	+	0	131	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	2	Head.				DNA replication|cytoskeleton organization|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		AGCCACCATGTCCATCCACTT	0.731000														46			9		0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87498877	87498877	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:87498877G>A	uc003kjc.3	-	8	941	c.816C>T	c.(814-816)atC>atT	p.I272I	TMEM161B_uc011cty.2_Silent_p.I261I|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Silent_p.I139I|TMEM161B_uc011ctx.2_Silent_p.I90I	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	272						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CCAAGAAGTTGATATGAAGTA	0.363000														74			8		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18823122	18823122	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18823122C>A	uc001ipr.2	+	10	1232	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	CACNB2_uc001ipt.2_Missense_Mutation_p.P353H|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.P367H|CACNB2_uc001ipu.3_Missense_Mutation_p.P363H|CACNB2_uc001ipv.3_Missense_Mutation_p.P339H|CACNB2_uc009xka.2_Missense_Mutation_p.P325H|CACNB2_uc001ipw.2_Missense_Mutation_p.P298H|CACNB2_uc001ipx.2_Missense_Mutation_p.P336H|CACNB2_uc001ipz.2_Missense_Mutation_p.P313H|CACNB2_uc001ipy.2_Missense_Mutation_p.P337H|CACNB2_uc010qco.1_Missense_Mutation_p.P305H|CACNB2_uc001iqa.2_Missense_Mutation_p.P343H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	391					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCTTGGCCCCTATTATAGTA	0.368000														145			22		1.9806e-07	2.14016e-07	1	1	0
B3GNT2	10678	broad.mit.edu	37	2	62449557	62449557	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62449557C>T	uc021vii.1	+	0	202	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	B3GNT2_uc002sbs.3_Missense_Mutation_p.R68W	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.	68						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			GAAGCTGAACCGGCAGTACAA	0.512000														594			236		0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16034677	16034677	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16034677T>G	uc002nbu.2	-	6	899	c.863A>C	c.(862-864)aAg>aCg	p.K288T	CYP4F11_uc010eab.1_Missense_Mutation_p.K288T|CYP4F11_uc002nbt.2_Missense_Mutation_p.K288T	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	288					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TGCCTTGTTCTTGAGGAAATC	0.517000														244			65		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722796	201722796	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722796C>A	uc002uwe.2	-	5	746	c.565G>T	c.(565-567)Gca>Tca	p.A189S	CLK1_uc010zhi.1_Missense_Mutation_p.A231S|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.A38S	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	189	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ATTTTTACTGCTACATGTCTA	0.378000														88			21		2.4624e-09	2.73094e-09	1	1	0
TJP3	27134	broad.mit.edu	37	19	3747908	3747908	+	Silent	SNP	C	T	T	rs148869242		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3747908C>T	uc010xhv.2	+	17	2538	c.2538C>T	c.(2536-2538)ggC>ggT	p.G846G	TJP3_uc010xhs.2_Silent_p.G813G|TJP3_uc010xht.2_Silent_p.G777G|TJP3_uc010xhu.2_Silent_p.G822G|TJP3_uc010xhw.2_Silent_p.G832G	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	827						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGCGAGGGCGGCGCGTACA	0.692000														92			20		0	0	1	0	0
GRAMD1B	57476	broad.mit.edu	37	11	123481019	123481019	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123481019G>A	uc001pyw.2	+	13	1813	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	GRAMD1B_uc001pyx.2_Missense_Mutation_p.R488H|GRAMD1B_uc010rzw.2_Missense_Mutation_p.R448H|GRAMD1B_uc010rzx.1_Missense_Mutation_p.R448H|GRAMD1B_uc001pyy.2_Missense_Mutation_p.R179H	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	488						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		ACGCTCACCCGTGTGGCTCGG	0.542000														156			32		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275450	1275450	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275450C>T	uc001aer.4	-	7	924	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Missense_Mutation_p.G10S|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	293	PDZ.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGATGCGGCCGTCAGCGGCC	0.647000														156			15		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815312	44815312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815312G>A	uc002xrm.2	-	8	1977	c.1578C>T	c.(1576-1578)gaC>gaT	p.D526D	CDH22_uc010ghk.1_Silent_p.D526D	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	526	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CTTGGGGCTCGTCTCTGTCCA	0.587000														110			38		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236945321	236945321	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236945321C>A	uc002vvs.3	+	13	2360	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	AGAP1_uc002vvt.3_Missense_Mutation_p.L535M|DQ587855_uc021vyq.1_Non-coding_Transcript|U7_uc021vyr.1_5'Flank	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	588	PH.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GAGCCAGATCCTGGCCAGCCT	0.612000														295			22		3.8784e-16	4.61393e-16	1	1	0
C3	718	broad.mit.edu	37	19	6696635	6696635	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6696635A>C	uc002mfm.3	-	21	2894	c.2832T>G	c.(2830-2832)gtT>gtG	p.V944V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	944					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAGGGTGCGAACAGCCACAG	0.567000														456			96		0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106037862	106037862	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106037862G>A	uc001kyb.3	+	3	982	c.354G>A	c.(352-354)gaG>gaA	p.E118E	GSTO2_uc010qqx.2_Silent_p.E118E|GSTO2_uc010qqw.1_Silent_p.E118E|GSTO2_uc001kyc.3_Silent_p.E90E|GSTO2_uc021pxu.1_Silent_p.E90E|GSTO2_uc010qqy.2_Silent_p.E90E	NM_183239	NP_001177943	Q9H4Y5	GSTO2_HUMAN	Homo sapiens glutathione S-transferase omega 2 (GSTO2), transcript variant 1, mRNA.	118	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	TGTTATTGGAGCTATTTTGTA	0.373000														48			7		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769658	37769658	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769658G>A	uc003asq.4	-	2	2703	c.1917C>T	c.(1915-1917)agC>agT	p.S639S	ELFN2_uc021wph.1_Silent_p.S639S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	639						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGACCTTGGCGCTCTTGATGG	0.652000														51			11		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200173513	200173513	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200173513G>A	uc002uuy.2	-	9	2527	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	SATB2_uc010fsq.2_Silent_p.H452H|SATB2_uc002uva.2_Silent_p.H570H|SATB2_uc002uuz.2_Silent_p.H570H	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	570						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	p.H570H(4)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCTGGACCACGTGTTGCATGC	0.607000														244			45		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	A	A	rs147213910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54802689G>A	uc001sga.3	-	4	701	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	211					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577000														92			32		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124155	74124155	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124155G>A	uc003hgp.3	-	0	348	c.231C>T	c.(229-231)aaC>aaT	p.N77N	ANKRD17_uc003hgq.3_Silent_p.N77N|ANKRD17_uc003hgr.3_Silent_p.N77N	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	77					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCAAGTCCGGTTACGCTTGG	0.697000														85			12		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69928347	69928347	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69928347G>A	uc003dnz.3	+	1	330	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MITF_uc011bgb.2_Missense_Mutation_p.R4H|MITF_uc003doa.3_Missense_Mutation_p.R55H|MITF_uc003dob.3_Missense_Mutation_p.R40H|MITF_uc003doc.1_Non-coding_Transcript	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	56					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGACATCACGCATCTTGCTA	0.557000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							106			23		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21909803	21909803	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21909803A>C	uc002nqi.3	-	4	1510	c.1311T>G	c.(1309-1311)gcT>gcG	p.A437A	ZNF100_uc002nqh.3_Silent_p.A373A	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACTCATTAAAAGCTTTGCCAC	0.423000														87			19		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354929	20354929	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20354929G>T	uc002gxa.1	-	9	854	c.789C>A	c.(787-789)agC>agA	p.S263R	LGALS9B_uc002gwz.1_Missense_Mutation_p.S262R|LGALS9B_uc010vzh.1_Missense_Mutation_p.S175R	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	263	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						AGGCGATGTGGCTCCCAGAGC	0.577000														154			26		6.50621e-10	7.27665e-10	1	1	0
LY75-CD302	100526664	broad.mit.edu	37	2	160636639	160636639	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160636639T>C	uc002ubb.4	-	36	5343	c.5269A>G	c.(5269-5271)Aca>Gca	p.T1757A	LY75-CD302_uc010fos.3_Missense_Mutation_p.T1701A|LY75-CD302_uc002uba.3_Missense_Mutation_p.T116A|LY75-CD302_uc021vrt.1_Missense_Mutation_p.T79A|LY75-CD302_uc010zco.2_Intron	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1624					endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCTTGGTCTGTCCACTTATCA	0.348000														88			14		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056800	120056800	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120056800C>A	uc001ehv.1	+	3	799	c.654C>A	c.(652-654)ttC>ttA	p.F218L		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	218					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TTGGAAAGTTCTCCACTGTTA	0.527000														146			41		1.07121e-22	1.32195e-22	1	1	0
PRR14	78994	broad.mit.edu	37	16	30667463	30667463	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30667463G>A	uc002dyy.3	+	11	1847	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	PRR14_uc002dyz.3_Missense_Mutation_p.R375Q|PRR14_uc002dza.3_Missense_Mutation_p.R530Q	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	530										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			AGCCTTCCTCGATCACGAAGA	0.642000														287			33		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160387	38160387	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38160387C>T	uc001uwo.4	-	6	902	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	POSTN_uc001uwp.4_Missense_Mutation_p.A262T|POSTN_uc001uwr.3_Missense_Mutation_p.A262T|POSTN_uc001uwq.3_Missense_Mutation_p.A262T|POSTN_uc010teu.1_Missense_Mutation_p.A262T|POSTN_uc010tev.1_Missense_Mutation_p.A262T|POSTN_uc010tew.1_Missense_Mutation_p.A262T|POSTN_uc010tex.1_Missense_Mutation_p.A177T	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	262	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTTCCAAGGGCCTCCAATATG	0.453000														106			19		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70589068	70589068	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589068G>A	uc002ezf.3	+	12	1880	c.1669G>A	c.(1669-1671)Gcc>Acc	p.A557T		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	557					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTGGTGATTGCCCTGACAGG	0.473000														180			36		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94818235	94818235	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94818235A>G	uc003klb.3	-	38	4451	c.4154T>C	c.(4153-4155)gTa>gCa	p.V1385A		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1385							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTCTTCAAGTACAGCATCTGG	0.408000														165			35		0	0	1	0	0
DUS4L	11062	broad.mit.edu	37	7	107214206	107214206	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107214206C>T	uc003veh.3	+	4	629	c.296C>T	c.(295-297)gCt>gTt	p.A99V	DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	99					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTATCTGATGCTGCTCGTATA	0.378000														217			50		0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61303134	61303134	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61303134C>T	uc002ydb.1	+	11	2263	c.2058C>T	c.(2056-2058)tgC>tgT	p.C686C	SLCO4A1_uc002yde.1_Silent_p.C88C	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	686					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CCATAGCCTGCTTCTTATACA	0.607000														353			31		0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132589527	132589527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132589527C>T	uc001ujv.3	+	0	986	c.962C>T	c.(961-963)tCc>tTc	p.S321F	EP400NL_uc001ujr.2_Missense_Mutation_p.S189F|EP400NL_uc001ujs.4_Missense_Mutation_p.S252F|EP400NL_uc009zyq.3_Missense_Mutation_p.S189F|EP400NL_uc001ujt.3_Missense_Mutation_p.S189F|EP400NL_uc001ujw.1_Missense_Mutation_p.S20F					Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CCAGGCCTTTCCAGCCTCCCA	0.662000														21			3		0	0	1	0	0
ALDH18A1	5832	broad.mit.edu	37	10	97397085	97397085	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97397085G>A	uc001kkz.3	-	3	654	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	ALDH18A1_uc001kky.3_Missense_Mutation_p.R138W|ALDH18A1_uc010qog.2_Missense_Mutation_p.R27W|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	138	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	AGGGCCTGCCGCACGCTCTGA	0.552000														163			30		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512484	125512484	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512484G>A	uc022bna.1	+	0	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GGCCTCTATGGCCATCGACCG	0.512000														181			38		0	0	1	0	0
SLC22A23	63027	broad.mit.edu	37	6	3290032	3290032	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3290032G>T	uc003mvm.3	-	5	1279	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M	SLC22A23_uc003mvn.3_Missense_Mutation_p.L146M|SLC22A23_uc003mvo.3_Missense_Mutation_p.L146M|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Missense_Mutation_p.L427M|SLC22A23_uc003mvq.1_5'Flank	NM_015482	NP_068764	A1A5C7	S22AN_HUMAN	Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA.	427					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				TTCTTCCACAGGTTCCGTGTC	0.587000														56			15		4.7546e-09	5.25358e-09	1	1	0
RETSAT	54884	broad.mit.edu	37	2	85578815	85578815	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85578815C>T	uc002spd.3	-	1	534	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RETSAT_uc010fge.3_5'Flank|RETSAT_uc010ysm.2_Intron	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	115					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GTGTCAAATTCAAGGCCATTC	0.507000														174			64		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166900413	166900413	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166900413G>A	uc002udo.4	-	12	2036	c.1809C>T	c.(1807-1809)agC>agT	p.S603S	SCN1A_uc010fpk.3_Silent_p.S603S|SCN1A_uc021vsb.1_Silent_p.S603S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	603						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATCTCTACGGCTCTCGTTAT	0.532000														145			29		0	0	1	0	0
RC3H1	149041	broad.mit.edu	37	1	173931058	173931058	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173931058G>A	uc010pmt.2	-	10	2094	c.2007C>T	c.(2005-2007)caC>caT	p.H669H	RC3H1_uc001gju.4_Silent_p.H669H|RC3H1_uc010pms.2_Silent_p.H669H|RC3H1_uc001gjv.3_Silent_p.H669H	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	669	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	p.S668F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GGCCATCATAGTGAGATGGGT	0.488000														192			83		0	0	1	0	0
ARSE	415	broad.mit.edu	37	X	2861177	2861177	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2861177G>A	uc011mhh.2	-	8	1591	c.1130C>T	c.(1129-1131)tCg>tTg	p.S377L	ARSE_uc011mhi.2_Missense_Mutation_p.S298L|ARSE_uc004crc.4_Missense_Mutation_p.S352L			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	352					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCGTGATCCGACGTAAAATA	0.473000														72			21		0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35026586	35026586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35026586C>T	uc003jjf.3	-	7	1042	c.799G>A	c.(799-801)Gag>Aag	p.E267K	AGXT2_uc003jje.1_5'Flank|AGXT2_uc011com.2_Missense_Mutation_p.E267K	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	267					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TTGAATTGCTCAATATACTGA	0.378000														79			9		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049459	175049459	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175049459C>T	uc001gkl.1	+	3	1058	c.945C>T	c.(943-945)agC>agT	p.S315S	TNN_uc010pmx.1_Silent_p.S315S	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	315	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGCAGCACAGCTATGAGATTC	0.547000														175			9		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796389	209796389	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209796389C>A	uc001hhg.3	-	15	2884	c.2494G>T	c.(2494-2496)Gcg>Tcg	p.A832S	LAMB3_uc009xco.3_Missense_Mutation_p.A832S|LAMB3_uc001hhh.3_Missense_Mutation_p.A832S|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	832	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	p.A832V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ACCTGCCCCGCCATCAAGAAG	0.652000														349			40		2.52637e-11	2.87508e-11	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102558319	102558319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102558319G>A	uc010swa.2	+	5	942	c.830G>A	c.(829-831)gGa>gAa	p.G277E	PARPBP_uc001tje.3_Missense_Mutation_p.G119E|PARPBP_uc001tjf.3_Missense_Mutation_p.G200E|PARPBP_uc001tjg.3_Missense_Mutation_p.G119E|PARPBP_uc001tjh.3_Missense_Mutation_p.G119E|PARPBP_uc010swb.2_Missense_Mutation_p.G86E|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_Intron|PARPBP_uc001tjk.3_Missense_Mutation_p.G200E|PARPBP_uc009zud.3_Missense_Mutation_p.G200E	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	200					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						CCTGATAGAGGACTAGGAAGA	0.363000														105			41		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11134266	11134266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11134266C>T	uc010dxp.3	+	20	3292	c.2932C>T	c.(2932-2934)Cga>Tga	p.R978*	SMARCA4_uc010dxo.3_Nonsense_Mutation_p.R978*|SMARCA4_uc002mqf.4_Nonsense_Mutation_p.R978*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.R978*|SMARCA4_uc010dxq.3_Nonsense_Mutation_p.R978*|SMARCA4_uc010dxr.3_Nonsense_Mutation_p.R978*|SMARCA4_uc002mqj.4_Nonsense_Mutation_p.R978*|SMARCA4_uc010dxs.3_Nonsense_Mutation_p.R978*|SMARCA4_uc010dxt.1_Nonsense_Mutation_p.R198*|SMARCA4_uc002mqh.4_Nonsense_Mutation_p.R101*|SMARCA4_uc002mqi.1_Nonsense_Mutation_p.R181*	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	978					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTTCTTGCTCCGACGACTCAA	0.572000			"""F, N, Mis"""		NSCLC									32			8		0	0	1	0	0
ANKRD28	23243	broad.mit.edu	37	3	15756164	15756164	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15756164C>T	uc003caj.1	-	9	1050	c.907_splice	c.e9-1	p.S303_splice	ANKRD28_uc003cai.1_Splice_Site_p.S149_splice|ANKRD28_uc011avz.1_Splice_Site_p.S149_splice|ANKRD28_uc003cak.1_Splice_Site|ANKRD28_uc011awa.1_Splice_Site|ANKRD28_uc003cal.1_Splice_Site_p.S333_splice|ANKRD28_uc003cam.2_Splice_Site_p.S336_splice	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	303						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CATCTTTACTCTGGGGGGGGA	0.363000														34			7		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152468847	152468847	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152468847G>A	uc021vrb.1	-	72	10958	c.10929C>T	c.(10927-10929)ggC>ggT	p.G3643G	NEB_uc002txu.3_Silent_p.G3886G|NEB_uc021vrc.1_Silent_p.G3886G|NEB_uc010fnx.3_Silent_p.G3631G|NEB_uc021vrd.1_Silent_p.G3643G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3643					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTCTACAGAGCCAATGGGAA	0.438000														80			6		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802583	233802583	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802583G>A	uc010pxo.1	+	1	766	c.598G>A	c.(598-600)Gcc>Acc	p.A200T		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	200						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CTTCATCCCGGCCGCTGTCTT	0.532000														203			32		0	0	1	0	0
UBE2E3	10477	broad.mit.edu	37	2	181846774	181846774	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:181846774C>T	uc002unq.1	+	2	224	c.5C>T	c.(4-6)tCc>tTc	p.S2F	UBE2E3_uc002unr.1_Missense_Mutation_p.S2F|UBE2E3_uc010fri.1_Missense_Mutation_p.S2F	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	2					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						ACCAAGATGTCCAGTGATAGG	0.478000														126			29		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21758017	21758017	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21758017C>A	uc002kve.3	-	20	2270	c.2053G>T	c.(2053-2055)Gaa>Taa	p.E685*	OSBPL1A_uc002kvd.3_Nonsense_Mutation_p.E172*|OSBPL1A_uc010xbc.2_Nonsense_Mutation_p.E303*	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	685					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GGTTCTGCTTCTACACTCTTC	0.433000														92			24		9.57634e-11	1.08211e-10	1	1	0
TEAD4	7004	broad.mit.edu	37	12	3121335	3121335	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3121335G>T	uc010sej.2	+	5	584	c.292_splice	c.e5-1	p.V98_splice	TEAD4_uc010sek.2_Splice_Site_p.V98_splice|TEAD4_uc001qln.3_Splice_Site	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	98					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CCCTGCCACAGGTCTCCAGCC	0.607000														57			10		5.16669e-11	5.85653e-11	1	1	0
FAM131B	9715	broad.mit.edu	37	7	143053714	143053714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143053714G>A	uc010lpa.3	-	6	1156	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	FAM131B_uc010loz.3_Missense_Mutation_p.R278W|FAM131B_uc003wct.3_Missense_Mutation_p.R310W|FAM131B_uc003wcu.4_Missense_Mutation_p.R310W	NM_001031690	NP_055505	Q86XD5	F131B_HUMAN	Homo sapiens family with sequence similarity 131, member B (FAM131B), transcript variant a, mRNA.	310										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GACACCTTCCGGCTGAGAGCG	0.582000														365			35		0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40735717	40735717	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40735717C>A	uc001cfg.3	+	4	756	c.545C>A	c.(544-546)tCt>tAt	p.S182Y		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	182						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	p.S182S(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TTGCCTGTGTCTTCACTTCTA	0.338000														130			39		6.97489e-18	8.39457e-18	1	1	0
NUP205	23165	broad.mit.edu	37	7	135285644	135285644	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135285644G>A	uc003vsw.3	+	15	2332	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	767					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TGGTTTTGGAGGTGTTTTATA	0.373000														83			11		0	0	1	0	0
NEDD4L	23327	broad.mit.edu	37	18	55998025	55998025	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55998025C>T	uc002lgy.3	+	10	1152	c.869C>T	c.(868-870)gCt>gTt	p.A290V	NEDD4L_uc002lgz.3_Missense_Mutation_p.A290V|NEDD4L_uc002lgx.3_Missense_Mutation_p.A290V|NEDD4L_uc010xee.1_Missense_Mutation_p.A169V|NEDD4L_uc002lhc.2_Missense_Mutation_p.A282V|NEDD4L_uc002lhd.2_Missense_Mutation_p.A169V|NEDD4L_uc002lhb.2_Missense_Mutation_p.A169V|NEDD4L_uc002lhe.2_Missense_Mutation_p.A282V|NEDD4L_uc002lhf.3_Missense_Mutation_p.A169V|NEDD4L_uc002lhg.3_Missense_Mutation_p.A169V|NEDD4L_uc002lhh.2_Missense_Mutation_p.A169V|NEDD4L_uc010dpm.1_Missense_Mutation_p.A141V	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	290					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CTCGGTCTGGCTCTGCCCCCA	0.552000														50			12		0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108984928	108984928	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984928C>T	uc003psk.2	+	2	1208	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C	FOXO3_uc003psm.2_Missense_Mutation_p.R298C|FOXO3_uc011ean.1_Missense_Mutation_p.R78C|FOXO3_uc010kdj.1_Missense_Mutation_p.R78C	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	298				PGSPTSRSSDELDAWTDFRSRTNSNASTVSGRLSPIMAS -> AWQPHVNAAVMSWMRGRTSVHAPILTPAQSVAACRPSW QV (in Ref. 5; CAA04860).	antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CCCCACGTCACGCAGCAGTGA	0.632000														68			16		0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581425	40581425	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40581425C>T	uc010xvh.2	-	5	1075	c.927G>A	c.(925-927)aaG>aaA	p.K309K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K308K|ZNF780A_uc002omz.3_Silent_p.K308K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K274N(1)|p.K309N(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCCCACATTCCTTACATACAA	0.388000														202			54		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120482	47120482	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120482C>T	uc001wwg.3	-	0	547	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	153					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTGGCCCTGCGCAAGGCTTC	0.517000														161			41		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26902639	26902639	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26902639C>T	uc003jgs.1	-	6	1368	c.1199G>A	c.(1198-1200)aGt>aAt	p.S400N		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCAATGATACTGCCCTCCTT	0.338000														88			10		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21334090	21334090	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21334090C>T	uc003zoy.3	-	0	1340	c.769G>A	c.(769-771)Gta>Ata	p.V257I	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	257					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ATGAAATCTACTGTCTGCACG	0.413000														145			33		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158641181	158641181	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158641181C>T	uc001fst.1	-	11	1750	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	517					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q516K(1)		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)					AGTCTTCATGCTTCTGAAGAA	0.468000														57			18		0	0	1	0	0
SGTA	6449	broad.mit.edu	37	19	2769007	2769007	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2769007C>T	uc002lwi.1	-	1	207	c.60G>A	c.(58-60)cgG>cgA	p.R20R		NM_003021	NP_003012	O43765	SGTA_HUMAN	Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha (SGTA), mRNA.	20					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCCCGTGCCGGAGCTGGT	0.627000														146			27		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642342	19642342	+	Missense_Mutation	SNP	C	T	T	rs144640412	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642342C>T	uc002ykw.3	-	24	3035	c.3004G>A	c.(3004-3006)Gga>Aga	p.G1002R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	1002	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCATACACTCCGGGGCGATTA	0.453000														103			28		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79257209	79257209	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79257209C>A	uc002jzz.1	-	4	732	c.357_splice	c.e4+1	p.Q119_splice	SLC38A10_uc002jzy.1_Splice_Site_p.Q37_splice|SLC38A10_uc002kab.3_Splice_Site_p.Q119_splice	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	119					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACATCCTTACCTGAAACCCGA	0.602000														51			7		0.00307968	0.00313564	1	1	0
CD44	960	broad.mit.edu	37	11	35250775	35250775	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35250775A>T	uc001mvu.3	+	17	2558	c.2124A>T	c.(2122-2124)gaA>gaT	p.E708D	CD44_uc001mvv.3_Missense_Mutation_p.E665D|CD44_uc001mvw.3_Missense_Mutation_p.E459D|CD44_uc001mwc.4_Missense_Mutation_p.E395D|CD44_uc001mvx.3_Missense_Mutation_p.E327D|CD44_uc010rer.2_Missense_Mutation_p.E306D|CD44_uc001mvy.3_Missense_Mutation_p.N121Y|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	708					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGTCTCAGGAAATGGTGCATT	0.498000														157			31		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38105252	38105252	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38105252G>T	uc003xlc.3	+	9	1347	c.1147G>T	c.(1147-1149)Gat>Tat	p.D383Y	DDHD2_uc003xlb.3_Missense_Mutation_p.D383Y|DDHD2_uc011lbl.1_Missense_Mutation_p.D195Y|DDHD2_uc003xld.3_Missense_Mutation_p.D2Y	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	383					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TATTGTAATGGATCAAGGAGA	0.299000														63			10		0.0692343	0.0695478	1	1	0
CYP2J2	1573	broad.mit.edu	37	1	60377919	60377919	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377919C>A	uc001czq.3	-	2	443	c.438G>T	c.(436-438)agG>agT	p.R146S		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	146					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	p.L145L(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					AACCAAAGTTCCTTAGTGCTG	0.438000														134			11		9.70103e-10	1.08264e-09	1	1	0
SNRNP35	11066	broad.mit.edu	37	12	123950548	123950548	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123950548G>T	uc021rfv.1	+	1	526	c.476G>T	c.(475-477)aGa>aTa	p.R159I	SNRNP35_uc001ufb.1_Missense_Mutation_p.R154I|SNRNP35_uc001ufc.1_Intron|SNRNP35_uc021rfw.1_Missense_Mutation_p.R154I	NM_180699	NP_073208	Q16560	U1SBP_HUMAN	Homo sapiens small nuclear ribonucleoprotein 35kDa (U11/U12) (SNRNP35), transcript variant 3, mRNA.	154	Arg-rich.				mRNA processing	U12-type spliceosomal complex	RNA binding|nucleotide binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GGGCAACTGAGATTTGGGGGA	0.517000														176			33		8.88839e-20	1.08155e-19	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35965947	35965947	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965947C>A	uc003jjv.2	-	3	577	c.384G>T	c.(382-384)aaG>aaT	p.K128N	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.K128N|UGT3A1_uc011cor.2_Missense_Mutation_p.K94N|UGT3A1_uc003jjy.2_Missense_Mutation_p.K74N	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	128						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCATTATATCCTTTCTGCTTA	0.308000														50			12		6.40141e-05	6.6609e-05	1	1	0
NHLRC1	378884	broad.mit.edu	37	6	18122317	18122317	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18122317A>C	uc003ncl.1	-	0	535	c.521T>G	c.(520-522)aTt>aGt	p.I174S		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	174					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			AGGGTACCTAATGTCTTGGGC	0.552000														132			32		0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155265358	155265358	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155265358T>C	uc001fkb.4	-	4	415	c.376_splice	c.e4-1	p.Y126_splice	PKLR_uc001fka.4_Splice_Site_p.Y95_splice|PKLR_uc010pga.1_Splice_Site_p.Y62_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	126					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CTCAGCATGGTACTGGGGGAG	0.692000														97			7		0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6378502	6378502	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6378502C>T	uc003jdo.3	-	0	138	c.95G>A	c.(94-96)aGc>aAc	p.S32N		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	Homo sapiens mediator complex subunit 10 (MED10), mRNA.	32					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GGCCTGGCTGCTGGGCTGGAA	0.647000														70			11		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75648934	75648934	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75648934C>T	uc004ecm.2	+	0	889	c.611C>T	c.(610-612)cCt>cTt	p.P204L		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	204	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGCCTACACCTGGTGAGGGA	0.687000														68			8		0	0	1	0	0
C12orf59	120939	broad.mit.edu	37	12	10342543	10342543	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10342543C>A	uc001qxr.3	+	4	973	c.356C>A	c.(355-357)gCt>gAt	p.A119D	C12orf59_uc001qxq.3_Missense_Mutation_p.A99D			Q4KMG9	CL059_HUMAN	Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA.	119						integral to membrane				large_intestine(4)|lung(4)|ovary(1)	9						CTGGCTGTGGCTCACTCCCAC	0.562000														84			20		5.35267e-07	5.74308e-07	1	1	0
MYLK	4638	broad.mit.edu	37	3	123339123	123339123	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123339123G>T	uc003ego.3	-	31	5581	c.5299C>A	c.(5299-5301)Ctc>Atc	p.L1767I	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Missense_Mutation_p.L7I|MYLK_uc003egm.3_Missense_Mutation_p.L7I|MYLK_uc010hrr.3_Missense_Mutation_p.L202I|MYLK_uc011bjv.2_Missense_Mutation_p.L567I|MYLK_uc011bjw.2_Missense_Mutation_p.L1767I|MYLK_uc003egp.3_Missense_Mutation_p.L1698I|MYLK_uc003egq.3_Missense_Mutation_p.L1716I|MYLK_uc003egr.3_Missense_Mutation_p.L1647I|MYLK_uc003egs.3_Missense_Mutation_p.L1591I	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1767	Calmodulin-binding.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGCCACTGAGCCCTGAGATC	0.517000														337			64		4.60343e-24	5.71375e-24	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183867735	183867735	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183867735A>G	uc002upc.3	-	3	738	c.336T>C	c.(334-336)aaT>aaC	p.N112N	NCKAP1_uc002upb.3_Silent_p.N118N	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	112					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			CGTCAATAGTATTCAGCAATT	0.308000														43			5		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645841	20645841	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20645841G>A	uc001ytg.3	-	19	2944	c.2235C>T	c.(2233-2235)agC>agT	p.S745S	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.S745S|HERC2P3_uc010tyy.2_Silent_p.S745S					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGAGCGATGCTCTGCACAA	0.602000														95			15		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99853919	99853919	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853919T>G	uc003ppo.4	-	7	1218	c.990A>C	c.(988-990)aaA>aaC	p.K330N	PNISR_uc003ppp.4_Missense_Mutation_p.K330N|PNISR_uc011eag.2_Missense_Mutation_p.K330N	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	330						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						TTTGATACTCTTTCTCCTCTT	0.383000														98			18		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162324979	162324979	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162324979C>T	uc001gbv.2	+	6	985	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	NOS1AP_uc010pkr.1_Missense_Mutation_p.R195C|NOS1AP_uc001gbw.2_Missense_Mutation_p.R195C|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	200					regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding	p.G199V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TCCTGCAGGCCGCCAGCTCAC	0.552000														249			34		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256724	89256724	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256724C>A	uc002fmt.3	+	7	1129	c.1052C>A	c.(1051-1053)gCt>gAt	p.A351D		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	351	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CTGCAGGCGGCTGCCCTTAGG	0.627000														49			16		1.5739e-10	1.77479e-10	1	1	0
TRPC1	7220	broad.mit.edu	37	3	142522866	142522866	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142522866C>T	uc003evc.3	+	10	1941	c.1805C>T	c.(1804-1806)gCg>gTg	p.A602V	TRPC1_uc003evb.3_Missense_Mutation_p.A568V|TRPC1_uc011bni.1_Missense_Mutation_p.A121V	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	602					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTCTCCTTAGCGCATGTGGCA	0.383000														65			14		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148627370	148627370	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148627370T>G	uc003lpy.2	+	17	1828	c.1577T>G	c.(1576-1578)aTt>aGt	p.I526S	ABLIM3_uc003lpz.1_Missense_Mutation_p.I526S|ABLIM3_uc003lqa.1_Missense_Mutation_p.I423S|ABLIM3_uc003lqb.3_Missense_Mutation_p.I415S|ABLIM3_uc003lqc.1_Missense_Mutation_p.I493S|ABLIM3_uc003lqd.1_Missense_Mutation_p.I431S|ABLIM3_uc003lqe.1_Missense_Mutation_p.I415S|ABLIM3_uc003lqf.3_Missense_Mutation_p.I415S	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	526					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGGCTGATTCTGAAGGAA	0.577000														84			12		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262207	39262207	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39262207C>A	uc010wfp.2	+	0	567	c.567C>A	c.(565-567)tgC>tgA	p.C189*		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	189						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ACACCACTTGCTATCGCCCAA	0.647000														31			3		0.115264	0.115636	1	1	0
MAPRE2	10982	broad.mit.edu	37	18	32720277	32720277	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32720277C>T	uc002kyg.3	+	6	1108	c.928C>T	c.(928-930)Ccg>Tcg	p.P310S	MAPRE2_uc010xcb.2_Missense_Mutation_p.P267S|MAPRE2_uc010xcc.2_Missense_Mutation_p.P298S|MAPRE2_uc002kyh.3_Missense_Mutation_p.P257S|MAPRE2_uc010xcd.2_Missense_Mutation_p.P267S	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	310	DCTN1-binding.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGAAGAGCCGGAAGCAGA	0.602000														42			5		0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25189343	25189343	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25189343A>G	uc002dnx.1	+	10	1162	c.1004A>G	c.(1003-1005)tAa>tGa	p.*335*	LCMT1_uc002dny.1_Silent_p.*280*	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	0							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	ATAACTTATTAATCTGTCGAA	0.607000														136			39		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219874743	219874743	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219874743C>T	uc002vjl.1	-	26	4457	c.4373G>A	c.(4372-4374)cGc>cAc	p.R1458H		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1458						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGAGCAGGCGGCTGCACTT	0.522000														64			17		0	0	1	0	0
RAB8B	51762	broad.mit.edu	37	15	63551873	63551873	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63551873C>T	uc002alz.3	+	5	558	c.462C>T	c.(460-462)tcC>tcT	p.S154S	RAB8B_uc010uih.2_Silent_p.S154S	NM_016530	NP_057614	Q92930	RAB8B_HUMAN	Homo sapiens RAB8B, member RAS oncogene family (RAB8B), mRNA.	154					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			kidney(3)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9						GCGCAAAATCCAGTGCAAATG	0.398000														44			10		0	0	1	0	0
MTG1	92170	broad.mit.edu	37	10	135211958	135211958	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135211958A>C	uc001lnd.3	+	3	406	c.302A>C	c.(301-303)gAa>gCa	p.E101A	MTG1_uc010qve.2_Missense_Mutation_p.E17A	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN	Homo sapiens mitochondrial GTPase 1 homolog (S. cerevisiae) (MTG1), nuclear gene encoding mitochondrial protein, mRNA.	101						mitochondrion	GTP binding|protein binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CAACACTTAGAAGGAGAAGGC	0.408000														157			31		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60748989	60748989	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60748989A>C	uc002agp.3	-	5	768	c.533T>G	c.(532-534)aTt>aGt	p.I178S	NARG2_uc002ago.3_Missense_Mutation_p.I41S|NARG2_uc010bgk.3_Missense_Mutation_p.I178S|NARG2_uc002agr.1_Missense_Mutation_p.I178S	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	178						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGCTCTTAAAATTTTCTGAGA	0.303000														64			8		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189413	38189413	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38189413T>G	uc002ohc.2	-	4	2215	c.1619A>C	c.(1618-1620)aAg>aCg	p.K540T	ZNF607_uc002ohb.2_Missense_Mutation_p.K539T	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCTAAAAGACTTCCCGCATTT	0.428000														113			20		0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224866571	224866571	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224866571G>T	uc010zlr.1	-	1	220	c.83C>A	c.(82-84)cCt>cAt	p.P28H	SERPINE2_uc002vnu.2_Missense_Mutation_p.P16H|SERPINE2_uc002vnv.2_Missense_Mutation_p.P16H	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	16					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCAGATGGAAGGCAGCGTCAC	0.483000														170			30		7.16026e-08	7.77809e-08	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69885813	69885813	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69885813C>T	uc011cao.1	-	1	282	c.156G>A	c.(154-156)acG>acA	p.T52T	UGT2B10_uc011can.1_Silent_p.T52T			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	89					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AATGTTGCATCGTGATATTCT	0.318000														81			17		0	0	1	0	0
HUS1	3364	broad.mit.edu	37	7	48018022	48018022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48018022C>T	uc003tod.2	-	2	455	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_004507	NP_004498	O60921	HUS1_HUMAN	Homo sapiens HUS1 checkpoint homolog (S. pombe) (HUS1), transcript variant 1, mRNA.	117					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				ACCAGCTCCACGGAGACCGTG	0.443000								Direct reversal of damage;Other conserved DNA damage response genes						82			18		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204403006	204403006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204403006C>T	uc001haw.3	-	25	4237	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1225H	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1253	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATCATGGAAGCGGCTGGAAGG	0.557000														196			74		0	0	1	0	0
KLF6	1316	broad.mit.edu	37	10	3823892	3823892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3823892C>T	uc001iha.3	-	1	884	c.617G>A	c.(616-618)gGc>gAc	p.G206D	KLF6_uc010qaj.2_Missense_Mutation_p.G206D|KLF6_uc010qak.2_Intron|KLF6_uc010qal.2_Intron|KLF6_uc001ihb.2_Missense_Mutation_p.G206D	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	206					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		TTTCCTGCAGCCGTTAAAGTG	0.657000											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			33		0	0	1	0	0
ZC3HC1	51530	broad.mit.edu	37	7	129680929	129680929	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129680929C>T	uc003vpi.3	-	2	298	c.271G>A	c.(271-273)Gca>Aca	p.A91T	ZC3HC1_uc010lma.3_5'UTR	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	91					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GGCTTACCTGCCCATTTCAAA	0.408000														227			63		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23649187	23649187	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23649187C>T	uc002dlx.1	-	2	395	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	65	Interaction with BRCA1.|Interaction with RAD51.|Required for its oligomerization and is important for its focal concentration at DNA damage sites.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		GTTTTAGCTGCGGTGAGAGAT	0.388000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						93			29		0	0	1	0	0
CYP2E1	1571	broad.mit.edu	37	10	135345639	135345639	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135345639G>A	uc001lnj.1	+	3	532	c.499G>A	c.(499-501)Gac>Aac	p.D167N	CYP2E1_uc001lnk.1_Missense_Mutation_p.D30N|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	167					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme 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|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CCAGCCTTTCGACCCCACCTT	0.552000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					224			14		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814871	174814871	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:174814871G>A	uc003fit.3	+	1	422	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	NAALADL2_uc003fiu.1_Missense_Mutation_p.R105Q	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	112					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CATTATACACGATCTGCACCA	0.378000														100			29		0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40259626	40259626	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259626G>A	uc002hyw.3	-	7	1216	c.993C>T	c.(991-993)ttC>ttT	p.F331F	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.F324F	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	331					innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTCACCATCGAACAGGGCCA	0.662000														42			14		0	0	1	0	0
ALDH1L2	160428	broad.mit.edu	37	12	105431901	105431901	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105431901G>A	uc001tlc.3	-	17	2252	c.2125C>T	c.(2125-2127)Ctt>Ttt	p.L709F	ALDH1L2_uc009zuo.3_Missense_Mutation_p.L164F|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	709	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCCTTGTCAAGTTCACAGTCA	0.443000														78			12		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59344625	59344625	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59344625C>T	uc002afv.3	+	2	1281	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	RNF111_uc002afs.3_Silent_p.S334S|RNF111_uc002aft.3_Silent_p.S334S|RNF111_uc002afu.3_Silent_p.S334S|RNF111_uc002afw.3_Silent_p.S334S	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	334	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TTGGAGAAAGCTATCGGTGAG	0.313000														73			17		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	32978017	32978017	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32978017G>T	uc001iwm.1	+	3	469	c.233G>T	c.(232-234)aGg>aTg	p.R78M	C10orf68_uc001iwl.1_Missense_Mutation_p.R72M|C10orf68_uc001iwn.4_Missense_Mutation_p.R64M|C10orf68_uc010qei.1_5'UTR	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	64										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						CTTATACTTAGGCATCAAGAC	0.299000														36			8		0.00448238	0.00455828	1	1	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213259	28213259	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213259T>C	uc003nks.1	-	4	1517	c.1273A>G	c.(1273-1275)Att>Gtt	p.I425V	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I270V	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	425					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCAGTATGAATTTTGTGATGT	0.473000														112			32		0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572121	53572121	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53572121G>A	uc010eqk.3	-	6	2082	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	ZNF160_uc002qaq.4_Missense_Mutation_p.R556W|ZNF160_uc002qar.4_Missense_Mutation_p.R556W	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	556					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGAATTCCCCGATGACTTCTA	0.413000														136			23		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91863867	91863867	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91863867G>A	uc003ulr.1	-	9	1777	c.885C>T	c.(883-885)agC>agT	p.S295S	KRIT1_uc010lev.1_Silent_p.S88S|KRIT1_uc003ulq.1_Silent_p.S295S|KRIT1_uc003uls.1_Silent_p.S295S|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Silent_p.S295S|KRIT1_uc003ulv.1_Silent_p.S295S	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	295					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCACAGGCGCTTCGGTGGA	0.383000														102			24		0	0	1	0	0
LUZP1	7798	broad.mit.edu	37	1	23419834	23419834	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23419834C>T	uc001bgk.2	-	3	1471	c.921G>A	c.(919-921)tcG>tcA	p.S307S	LUZP1_uc010odv.1_Silent_p.S307S|LUZP1_uc001bgl.3_Silent_p.S307S|LUZP1_uc001bgm.1_Silent_p.S307S	NM_033631	NP_361013	Q86V48	LUZP1_HUMAN	Homo sapiens leucine zipper protein 1 (LUZP1), transcript variant 1, mRNA.	307						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTTCCAACGATTCAAAGT	0.338000														109			13		0	0	1	0	0
PPP1R21	129285	broad.mit.edu	37	2	48734492	48734492	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48734492G>A	uc002rwm.3	+	18	2238	c.2053G>A	c.(2053-2055)Gct>Act	p.A685T	PPP1R21_uc002rwl.3_Missense_Mutation_p.A639T|PPP1R21_uc002rwk.3_Missense_Mutation_p.A674T|PPP1R21_uc010yok.2_Missense_Mutation_p.A643T	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	685										endometrium(2)|kidney(4)|lung(9)	15						GTTGCAGCTGGCTGACAGTAA	0.413000														85			27		0	0	1	0	0
RHOBTB2	23221	broad.mit.edu	37	8	22864647	22864647	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864647C>A	uc003xcp.2	+	6	1238	c.955C>A	c.(955-957)Ctc>Atc	p.L319I	RHOBTB2_uc011kzp.1_Missense_Mutation_p.L304I|RHOBTB2_uc003xcq.2_Missense_Mutation_p.L297I|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	297	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TGACCTGTTCCTCATGGACCT	0.627000														297			65		2.01871e-26	2.52304e-26	1	1	0
HCFC1	3054	broad.mit.edu	37	X	153223480	153223480	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153223480G>A	uc004fjp.3	-	10	2552	c.2024C>T	c.(2023-2025)gCt>gTt	p.A675V		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	675	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTCACCAGAGCACTGCCTCC	0.642000														81			21		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32258902	32258902	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32258902C>T	uc001bts.1	-	12	2720	c.2662G>A	c.(2662-2664)Gga>Aga	p.G888R	SPOCD1_uc001btr.1_5'Flank|SPOCD1_uc001btu.3_Missense_Mutation_p.G888R|SPOCD1_uc001btv.3_Missense_Mutation_p.G381R	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	888	SPOC.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGCTGTGTCCCGAGACCAGC	0.627000														36			5		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99433364	99433364	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99433364A>C	uc001kog.1	+	8	1362	c.1305A>C	c.(1303-1305)aaA>aaC	p.K435N	PI4K2A_uc010qoy.1_Missense_Mutation_p.K405N|PI4K2A_uc009xvw.1_Missense_Mutation_p.K68N	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	435	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		AGGCCTTGAAAGACAACAAGA	0.542000														191			40		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72338363	72338363	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72338363C>A	uc002atl.4	-	1	1015	c.542G>T	c.(541-543)aGt>aTt	p.S181I	MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Missense_Mutation_p.S181I|MYO9A_uc002atn.1_Missense_Mutation_p.S181I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	181	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.S181R(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TATTAGAATACTGCCAACATA	0.323000														94			26		9.57634e-11	1.08211e-10	1	1	0
NNT	23530	broad.mit.edu	37	5	43659279	43659279	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43659279A>T	uc003joe.3	+	16	2716	c.2461A>T	c.(2461-2463)Act>Tct	p.T821S	NNT_uc003jof.3_Missense_Mutation_p.T821S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	821					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTAGGGTGTGACTTTGACAGC	0.423000														247			43		0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94935002	94935002	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935002G>T	uc011lgn.2	+	1	941	c.892G>T	c.(892-894)Gcc>Tcc	p.A298S	PDP1_uc003ygf.3_Missense_Mutation_p.A264S|PDP1_uc003yge.3_Missense_Mutation_p.A239S|PDP1_uc010max.3_Missense_Mutation_p.A264S|PDP1_uc011lgm.2_Missense_Mutation_p.A239S|PDP1_uc022ayg.1_Missense_Mutation_p.A239S	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TCTAATTAATGCCTTCAAGAG	0.433000														150			30		3.73148e-12	4.28986e-12	1	1	0
DCC	1630	broad.mit.edu	37	18	50278519	50278519	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50278519G>A	uc002lfe.2	+	1	803	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	63	Ig-like C2-type 1.				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)		CGACTGCTCCGCGGAGTCCGA	0.507000														85			16		0	0	1	0	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117425C>A	uc002zfw.1	+	0	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	103	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.A103A(2)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647000														399			63		2.03366e-24	2.52734e-24	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58978424	58978424	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58978424G>A	uc001nnu.4	-	0	2071	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	639						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				ATGGCCCTCCGCAGCTCTATC	0.552000														248			58		0	0	1	0	0
HMGB2	3148	broad.mit.edu	37	4	174254339	174254339	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174254339C>T	uc011ckc.1	-	1	297	c.177G>A	c.(175-177)aaG>aaA	p.K59K	HMGB2_uc003ita.3_Silent_p.K59K|HMGB2_uc003itb.2_Silent_p.K59K	NM_001130689	NP_002120	P26583	HMGB2_HUMAN	Homo sapiens high mobility group box 2 (HMGB2), transcript variant 3, mRNA.	59					DNA fragmentation involved in apoptotic nuclear change|DNA topological change|V(D)J recombination|base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	DNA bending activity|RAGE receptor binding|chemoattractant activity|damaged DNA binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		TATCTTCAAACTTCGACTTCT	0.398000														158			20		0	0	1	0	0
RNF122	79845	broad.mit.edu	37	8	33406322	33406322	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33406322A>G	uc003xjo.1	-	5	819	c.417T>C	c.(415-417)agT>agC	p.S139S		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	Homo sapiens ring finger protein 122 (RNF122), mRNA.	139						Golgi apparatus|endoplasmic reticulum|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CCTCTGAGGGACTAGCAATGG	0.517000														250			46		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131829899	131829899	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131829899C>T	uc003vra.4	-	28	5433	c.5204G>A	c.(5203-5205)cGc>cAc	p.R1735H	PLXNA4_uc003vqz.4_Missense_Mutation_p.R20H	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1735						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCAGGTATGGCGGACGTGCGG	0.592000														125			14		0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249142057	249142057	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142057T>C	uc001iex.3	+	3	1279	c.584T>C	c.(583-585)gTc>gCc	p.V195A	ZNF672_uc021pme.1_Missense_Mutation_p.V195A	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGACCCCGTGTCTCAGACGCC	0.697000														35			10		0	0	1	0	0
ENDOU	8909	broad.mit.edu	37	12	48110168	48110168	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48110168C>A	uc001rpu.2	-	5	825	c.666G>T	c.(664-666)caG>caT	p.Q222H	ENDOU_uc010sll.2_5'UTR|ENDOU_uc001rpt.2_Missense_Mutation_p.Q181H|ENDOU_uc010slm.2_Missense_Mutation_p.Q159H|AL831948_uc001rpv.3_5'Flank	NM_001172439	NP_001165910	P21128	ENDOU_HUMAN	Homo sapiens endonuclease, polyU-specific (ENDOU), transcript variant 1, mRNA.	222					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	RNA binding|endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562000											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		133			25		2.98393e-07	3.21458e-07	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42116688	42116688	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116688C>T	uc001zok.4	+	30	4524	c.4238C>T	c.(4237-4239)gCg>gTg	p.A1413V	MAPKBP1_uc010bci.3_Missense_Mutation_p.A1130V|MAPKBP1_uc010udb.2_Missense_Mutation_p.A1246V|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A1407V|MAPKBP1_uc010bcj.3_Missense_Mutation_p.A914V|MAPKBP1_uc010bck.3_Missense_Mutation_p.A624V|MAPKBP1_uc010bcl.3_Splice_Site_p.A912_splice	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1413										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TCAGAGCCAGCGGTGAGCCTG	0.642000														23			7		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442498	179442498	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179442498C>T	uc021vsy.1	-	271	61176	c.60951G>A	c.(60949-60951)tcG>tcA	p.S20317S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S14012S|TTN_uc021vta.1_Silent_p.S13945S|TTN_uc021vtb.1_Silent_p.S13820S|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21244	Fibronectin type-III 47.						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)			TCCAAGACTTCGAAGGTAGAT	0.393000														58			16		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641042	122641042	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122641042C>A	uc003yph.2	-	1	1077	c.539G>T	c.(538-540)aGt>aTt	p.S180I		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	180						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCAGATACTTTTGTTGGA	0.458000														302			71		4.79706e-38	6.09145e-38	1	1	0
C7orf10	79783	broad.mit.edu	37	7	40234621	40234621	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40234621A>C	uc022acd.1	+	5	491	c.467A>C	c.(466-468)gAc>gCc	p.D156A	C7orf10_uc003thn.2_Missense_Mutation_p.D156A|C7orf10_uc003tho.2_Missense_Mutation_p.D156A	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	156							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGATATAGACGAGATTGCT	0.433000														206			31		0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205156672	205156672	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205156672C>T	uc001hbw.3	-	1	592	c.528G>A	c.(526-528)acG>acA	p.T176T	DSTYK_uc001hbx.3_Silent_p.T176T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	176						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T176T(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GAGCAACCAGCGTGTGCACTA	0.572000														90			34		0	0	1	0	0
NDUFB8	4714	broad.mit.edu	37	10	102286192	102286192	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102286192G>T	uc001kri.1	-	3	460	c.432C>A	c.(430-432)tgC>tgA	p.C144*	SEC31B_uc009xwo.1_5'UTR|SEC31B_uc010qpq.1_Intron|SEC31B_uc010qpr.1_Non-coding_Transcript	NM_005004	NP_004995	O95169	NDUB8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa (NDUFB8), nuclear gene encoding mitochondrial protein, mRNA.	144					mitochondrial electron transport, NADH to ubiquinone|transport	endoplasmic reticulum|integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(2)|lung(2)	4		Colorectal(252;0.234)		Epithelial(162;5.68e-10)|all cancers(201;4.05e-08)	NADH(DB00157)	CCCCCACCCAGCACATGAATA	0.527000														65			13		1.5842e-08	1.73923e-08	1	1	0
MFAP4	4239	broad.mit.edu	37	17	19289705	19289705	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19289705C>T	uc002gvs.3	-	2	331	c.230G>A	c.(229-231)gGc>gAc	p.G77D	MFAP4_uc002gvt.3_Missense_Mutation_p.G53D	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	53	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GAGGTACACGCCGTCTGACTG	0.617000														54			11		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35467829	35467829	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35467829G>T	uc021wcx.1	-	1	1043	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	SOGA1_uc002xgd.1_5'UTR	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	617										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TCGGCCCGCAGCTCCTCAATC	0.607000														79			24		2.21704e-12	2.55528e-12	1	1	0
CHD8	57680	broad.mit.edu	37	14	21861744	21861744	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21861744G>A	uc001war.2	-	30	6275	c.6210C>T	c.(6208-6210)gaC>gaT	p.D2070D	CHD8_uc001was.2_Silent_p.D1791D|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2070	Ser-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCAGCTCAGAGTCCGAATCAT	0.522000														33			6		0	0	1	0	0
ATAT1	79969	broad.mit.edu	37	6	30614342	30614342	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30614342C>A	uc003nqv.3	+	12	1470	c.1152C>A	c.(1150-1152)tcC>tcA	p.S384S	C6orf136_uc003nqx.4_5'Flank|C6orf136_uc003nqw.4_5'Flank|C6orf136_uc011dmn.2_5'Flank	NM_001031722	NP_001026892	Q5SQI0	ATAT_HUMAN	Homo sapiens alpha tubulin acetyltransferase 1 (ATAT1), transcript variant 1, mRNA.	396							tubulin N-acetyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	9						CAGCCCAGTCCTGGACAGTGG	0.632000														20			3		0.150653	0.151008	1	1	0
ACTL9	284382	broad.mit.edu	37	19	8808336	8808336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808336G>A	uc002mkl.2	-	0	837	c.716C>T	c.(715-717)gCc>gTc	p.A239V		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	239						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GGGCAGGCCGGCCTGGAGCAG	0.657000														131			35		0	0	1	0	0
QPCTL	54814	broad.mit.edu	37	19	46201906	46201906	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46201906G>A	uc010xxr.2	+	3	956	c.735G>A	c.(733-735)caG>caA	p.Q245Q	QPCTL_uc010ekn.3_Silent_p.Q151Q	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase-like (QPCTL), transcript variant 1, mRNA.	245					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ACCTGGCCCAGCTCATGGAGT	0.622000														96			19		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466502	131466502	+	Missense_Mutation	SNP	G	T	T	rs138627746		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131466502G>T	uc010tbm.2	+	5	1039	c.480G>T	c.(478-480)caG>caT	p.Q160H	GPR133_uc001uit.4_Missense_Mutation_p.Q128H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	128					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ATGGGGGACAGGTCATCTCCA	0.512000														154			43		9.39024e-22	1.15418e-21	1	1	0
ZNF827	152485	broad.mit.edu	37	4	146824292	146824292	+	Missense_Mutation	SNP	G	A	A	rs149206051		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146824292G>A	uc003ikn.3	-	1	167	c.119C>T	c.(118-120)cCg>cTg	p.P40L	ZNF827_uc003ikm.3_Missense_Mutation_p.P40L|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TGCTTCTGACGGAGTCTCTGA	0.532000														197			50		0	0	1	0	0
CRABP2	1382	broad.mit.edu	37	1	156670843	156670843	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156670843C>T	uc001fpr.3	-	2	292	c.71_splice	c.e2-1	p.G24_splice	CRABP2_uc021pbi.1_Splice_Site_p.G24_splice	NM_001878	NP_001869	P29373	RABP2_HUMAN	Homo sapiens cellular retinoic acid binding protein 2 (CRABP2), transcript variant 1, mRNA.	24					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCACATTCACCCCTGTGGGGA	0.542000														101			9		0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153514	37153514	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37153514C>A	uc002xiw.3	+	10	1970	c.1713C>A	c.(1711-1713)ttC>ttA	p.F571L	RALGAPB_uc010zvz.1_3'UTR|RALGAPB_uc002xix.3_Missense_Mutation_p.F571L|RALGAPB_uc002xiy.1_Missense_Mutation_p.F571L|RALGAPB_uc002xiz.3_Missense_Mutation_p.F349L|RALGAPB_uc002xja.1_Missense_Mutation_p.F298L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	571					activation of Ral GTPase activity	intracellular	Ral GTPase activator activity|protein heterodimerization activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCCTTTGTTCTGCTGTGACT	0.378000														168			36		3.62531e-18	4.37168e-18	1	1	0
SBSPON	157869	broad.mit.edu	37	8	74005092	74005092	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74005092G>T	uc003xzf.3	-	0	416	c.211C>A	c.(211-213)Cca>Aca	p.P71T		NM_153225	NP_694957	Q8IVN8	RPESP_HUMAN	Homo sapiens chromosome 8 open reading frame 84 (C8orf84), mRNA.	71	SMB.				immune response	extracellular region	polysaccharide binding|scavenger receptor activity										CACCCACCTGGGCACGCCCTG	0.687000														58			11		1.58986e-06	1.69271e-06	1	1	0
NIN	51199	broad.mit.edu	37	14	51221342	51221342	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51221342G>A	uc001wyi.3	-	19	4864	c.4673C>T	c.(4672-4674)aCg>aTg	p.T1558M	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.T1558M|NIN_uc001wyk.3_Missense_Mutation_p.T845M|NIN_uc001wyo.3_Missense_Mutation_p.T1558M	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1558					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)					TACAGTTTCCGTTTTTTGCCT	0.274000			T	PDGFRB	MPD									20			3		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193073	179193073	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193073C>A	uc003mkm.3	+	1	1325	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	MAML1_uc003mkn.1_Silent_p.P354P	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	354					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTCAGCCCCGGGCGGACA	0.622000														147			34		6.90743e-12	7.92012e-12	1	1	0
SPAG1	6674	broad.mit.edu	37	8	101196260	101196260	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101196260T>C	uc003yjh.2	+	5	651	c.565T>C	c.(565-567)Tct>Cct	p.S189P	SPAG1_uc003yjg.1_Missense_Mutation_p.S189P|SPAG1_uc003yji.2_Missense_Mutation_p.S189P	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	189					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GTCACACTTGTCTAAAATTGA	0.264000														44			8		0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123339642	123339642	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123339642C>T	uc001udj.1	+	9	878	c.819C>T	c.(817-819)ttC>ttT	p.F273F	HIP1R_uc001udg.1_Silent_p.F261F|HIP1R_uc001udi.1_Silent_p.F273F|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	273					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGCTGTACTTCAAGCGGCTCA	0.662000														244			60		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27222472	27222472	+	Splice_Site	SNP	A	G	G	rs145885657		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222472A>G	uc003nja.3	+	10	1166	c.1151_splice	c.e10-1	p.Y384_splice	PRSS16_uc011dkt.2_Splice_Site|PRSS16_uc003njb.3_Splice_Site_p.Y127_splice|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	384					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCTACACAGATGTCACCTGT	0.498000														200			33		0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132939158	132939158	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132939158C>T	uc003qdl.1	-	1	187	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TAAR2_uc010kfr.1_Missense_Mutation_p.A18T	NM_001033080	NP_055441	Q9P1P5	TAAR2_HUMAN	Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA.	63						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		ATTATCATGGCAAGATTGCCA	0.423000														116			25		0	0	1	0	0
FBXO45	200933	broad.mit.edu	37	3	196304505	196304505	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196304505C>T	uc010iai.3	+	1	631	c.500C>T	c.(499-501)aCt>aTt	p.T167I		NM_001105573	NP_001099043	P0C2W1	FBSP1_HUMAN	Homo sapiens F-box protein 45 (FBXO45), mRNA.	167	B30.2/SPRY.				nervous system development|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	cell junction|postsynaptic membrane|presynaptic membrane	protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CCTCTGGGCACTGTGGCAGTG	0.577000														51			11		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40595493	40595493	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40595493G>A	uc001zld.3	-	2	528	c.227C>T	c.(226-228)cCc>cTc	p.P76L	PLCB2_uc010bbo.3_Missense_Mutation_p.P76L|PLCB2_uc010ucm.2_Missense_Mutation_p.P76L|PLCB2_uc001zle.4_Missense_Mutation_p.P76L	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	76					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.P76L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACCTACCTTGGGCATCTTGGC	0.597000														120			16		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438717	6438717	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6438717G>A	uc001qnu.3	-	9	1432	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.R269C|TNFRSF1A_uc010sey.2_Missense_Mutation_p.R145C|TNFRSF1A_uc010sez.2_Missense_Mutation_p.R269C|TNFRSF1A_uc009zek.3_Missense_Mutation_p.R334C	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	377	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						AGCCCTAGGCGCCGCACGAAT	0.701000														42			6		0	0	1	0	0
TAS2R9	50835	broad.mit.edu	37	12	10962247	10962247	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10962247A>C	uc001qyx.3	-	0	521	c.428T>G	c.(427-429)aTt>aGt	p.I143S	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	143					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AACACTAATAATTAAAGAGAT	0.358000														72			16		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209965773	209965773	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209965773C>T	uc001hhq.2	-	6	813	c.509_splice	c.e6-1	p.G170_splice	IRF6_uc010psm.2_Splice_Site_p.G75_splice	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	170					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(2)		cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		ATGGGAGAACCTAAAACAAAA	0.537000										HNSCC(57;0.16)				91			20		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115518	220115518	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220115518C>T	uc002vkt.1	-	3	961	c.903G>A	c.(901-903)caG>caA	p.Q301Q	TUBA4A_uc010zkz.1_Silent_p.Q286Q|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	301					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTTACCATCTGGTTGGCAG	0.582000														244			98		0	0	1	0	0
LBX1	10660	broad.mit.edu	37	10	102988278	102988278	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102988278G>T	uc001ksx.3	-	0	440	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	99					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		CTGACCTCCAGCCCCTTAAAC	0.721000														7			3		0.000602214	0.000618135	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179592146	179592146	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179592146G>A	uc003fki.1	-	6	825	c.695C>T	c.(694-696)gCt>gTt	p.A232V	PEX5L_uc011bqd.1_Missense_Mutation_p.A189V|PEX5L_uc011bqe.1_Missense_Mutation_p.A40V|PEX5L_uc011bqf.1_Missense_Mutation_p.A124V|PEX5L_uc003fkj.1_Missense_Mutation_p.A197V|PEX5L_uc010hxd.1_Missense_Mutation_p.A230V|PEX5L_uc011bqg.1_Missense_Mutation_p.A208V|PEX5L_uc011bqh.1_Missense_Mutation_p.A173V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	232					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAATTCTGAAGCCGACTCAGA	0.393000														80			19		0	0	1	0	0
CCDC70	83446	broad.mit.edu	37	13	52439824	52439824	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52439824G>T	uc010tgr.1	-	0		c.396C>A			CCDC70_uc001vfu.4_Nonsense_Mutation_p.E104*|CCDC70_uc021rjv.1_Nonsense_Mutation_p.E104*			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CTGGAAAGAGGAAAAATCCTT	0.473000														161			17		1.15088e-07	1.24477e-07	1	1	0
MBD3	53615	broad.mit.edu	37	19	1578415	1578415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1578415G>A	uc002ltj.3	-	5	822	c.800C>T	c.(799-801)gCt>gTt	p.A267V	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Missense_Mutation_p.A235V|MBD3_uc002ltl.1_Missense_Mutation_p.A267V	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	267					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		gtcgtcctcAGCGCAGGCCTT	0.716000														133			28		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117304863	117304863	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117304863G>A	uc003vjd.3	+	24	4217	c.4085G>A	c.(4084-4086)aGt>aAt	p.S1362N	CFTR_uc011knq.2_Missense_Mutation_p.S768N	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1362	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCTGTTCTCAGTAAGGCGAAG	0.473000									Cystic Fibrosis					187			14		0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32635397	32635397	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635397T>G	uc001mtv.3	-	15	2511	c.2467A>C	c.(2467-2469)Aaa>Caa	p.K823Q		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	823										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGGTCATTTTTTGTGGCTTCA	0.323000														101			21		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36220146	36220146	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36220146C>T	uc021usv.1	+	21	4866	c.4866C>T	c.(4864-4866)aaC>aaT	p.N1622N	MLL2_uc021usu.1_Silent_p.N436N	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5073					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCGAGGAGAACGACGGCTCCC	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				28			7		0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15116568	15116568	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15116568G>A	uc002dda.4	+	12	1321	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	PDXDC1_uc010uzl.2_Missense_Mutation_p.R351Q|PDXDC1_uc010uzm.2_Missense_Mutation_p.R275Q|PDXDC1_uc002dcz.3_Missense_Mutation_p.R343Q|PDXDC1_uc002ddb.4_Missense_Mutation_p.R339Q|PDXDC1_uc010uzn.2_Missense_Mutation_p.R338Q|PDXDC1_uc002ddc.3_Missense_Mutation_p.R366Q	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	366					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding	p.R366W(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGAGTCAACGGTTGCAGGAA	0.373000														70			6		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18194249	18194249	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194249G>A	uc002gsx.1	-	11	1603	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Silent_p.I356I	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	458					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512000														112			28		0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132873992	132873992	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132873992C>T	uc011ecj.2	+	0	161	c.161C>T	c.(160-162)aCt>aTt	p.T54I		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	54						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TTAGTAATGACTTCTGTTCTT	0.448000														238			47		0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28302267	28302267	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28302267G>A	uc002ymg.3	-	6	2892	c.2163C>T	c.(2161-2163)tgC>tgT	p.C721C		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	721	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CACATACTCCGCACTTGTCAT	0.443000														205			59		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	128908593	128908593	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128908593C>T	uc010qun.2	+	24	2662	c.2598C>T	c.(2596-2598)gtC>gtT	p.V866V	DOCK1_uc001ljt.3_Silent_p.V845V	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	845					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TCGAAATCGTCCACAGTGACC	0.428000														21			7		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155102495	155102495	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:155102495G>A	uc002tyt.4	+	5	961	c.857_splice	c.e5+1	p.R286_splice	GALNT13_uc002tyr.4_Splice_Site_p.R286_splice|GALNT13_uc010foc.1_Splice_Site_p.R105_splice|GALNT13_uc010fod.3_Splice_Site_p.R39_splice	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	286	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						TTACCTGTCAGGTATGTAGAT	0.343000														35			10		0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90219966	90219966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90219966C>T	uc004apc.3	+	2	298	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DAPK1_uc004ape.3_Missense_Mutation_p.R54W|DAPK1_uc004apd.3_Missense_Mutation_p.R54W|DAPK1_uc011ltg.2_Missense_Mutation_p.R54W|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	54	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	p.R53W(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GTCCAGCCGGCGGGGTGTGAG	0.557000									Chronic Lymphocytic Leukemia, Familial Clustering of					100			24		0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254940	24254940	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24254940C>T	uc003xdz.2	+	5	818	c.598C>T	c.(598-600)Cga>Tga	p.R200*	ADAMDEC1_uc010lub.2_Nonsense_Mutation_p.R121*|ADAMDEC1_uc011lab.1_Nonsense_Mutation_p.R121*	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	200					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGCCCAATTCGAATCTCTAG	0.433000														188			51		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38139062	38139062	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38139062G>T	uc003chp.1	+	16	2520	c.2499G>T	c.(2497-2499)caG>caT	p.Q833H	DLEC1_uc003cho.1_Missense_Mutation_p.Q833H|DLEC1_uc010hgv.1_Missense_Mutation_p.Q833H|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	833					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCACAAGCCAGGACCTGCTGT	0.582000														127			11		4.68919e-08	5.11014e-08	1	1	0
STX16	8675	broad.mit.edu	37	20	57248758	57248758	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57248758G>A	uc002xzi.3	+	7	1618	c.864G>A	c.(862-864)caG>caA	p.Q288Q	STX16_uc021wfi.1_Silent_p.Q235Q|STX16_uc002xzk.3_Silent_p.Q271Q|STX16_uc010zzq.2_Silent_p.Q102Q|STX16_uc002xzl.3_Silent_p.Q102Q|STX16_uc002xzm.3_Silent_p.Q284Q|STX16_uc002xzj.3_Silent_p.Q267Q|STX16_uc021wfj.1_Silent_p.Q102Q	NM_001001433	NP_001191797	O14662	STX16_HUMAN	Homo sapiens syntaxin 16 (STX16), transcript variant 1, mRNA.	288	t-SNARE coiled-coil homology.				intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|SNARE complex|integral to membrane|microsome	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			GTTTGAAACAGCTTCACAAGG	0.353000														47			11		0	0	1	0	0
PUS3	83480	broad.mit.edu	37	11	125765172	125765172	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125765172C>A	uc001qcy.2	-	2	989	c.891G>T	c.(889-891)gaG>gaT	p.E297D	HYLS1_uc009zbv.3_Intron|HYLS1_uc001qcx.4_Intron	NM_031307	NP_112597	Q9BZE2	PUS3_HUMAN	Homo sapiens pseudouridylate synthase 3 (PUS3), mRNA.	297						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		CATCAATAATCTCTGGCTTCT	0.403000														116			30		1.99505e-19	2.42313e-19	1	1	0
USO1	8615	broad.mit.edu	37	4	76733463	76733463	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76733463C>A	uc003hiu.3	+	21	2756	c.2581C>A	c.(2581-2583)Ctc>Atc	p.L861I	USO1_uc003hiv.3_Missense_Mutation_p.L754I|USO1_uc003hiw.3_Missense_Mutation_p.L747I	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	912					intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTCTTGGTGCTCTTGGCCGA	0.333000														14			3		0.00909568	0.00920877	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62065214	62065214	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62065214G>T	uc002yey.1	-	7	1243	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	KCNQ2_uc002yez.1_Missense_Mutation_p.L356M|KCNQ2_uc002yfa.1_Missense_Mutation_p.L356M|KCNQ2_uc002yfb.1_Missense_Mutation_p.L356M|KCNQ2_uc011aax.1_Missense_Mutation_p.L356M|KCNQ2_uc002yfc.1_Missense_Mutation_p.L356M	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	356					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGAGTGCAGGTCTGTGCGC	0.627000														206			48		7.88023e-25	9.80553e-25	1	1	0
TCERG1	10915	broad.mit.edu	37	5	145843122	145843122	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145843122A>G	uc003lob.3	+	4	941	c.901A>G	c.(901-903)Aca>Gca	p.T301A	TCERG1_uc003loc.3_Missense_Mutation_p.T301A|TCERG1_uc011dbt.2_Missense_Mutation_p.T301A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	301	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCACCCACAACACAAGATCA	0.388000														252			50		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144126	50144126	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144126G>T	uc010njr.2	-	7	1364	c.1320C>A	c.(1318-1320)gaC>gaA	p.D440E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	440					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTCTCCTACAGTCATCATGCA	0.458000														13			5		0.014758	0.0149061	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140810381	140810381	+	Missense_Mutation	SNP	C	A	A	rs138641753	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140810381C>A	uc003lkt.2	+	0	224	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.L19I	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	0					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)			GCTGGGAATCCTCCTGGGGAC	0.537000														257			52		1.38658e-30	1.74704e-30	1	1	0
DNAJB11	51726	broad.mit.edu	37	3	186299230	186299230	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186299230G>A	uc003fqi.3	+	4	1262	c.527G>A	c.(526-528)cGg>cAg	p.R176Q		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	176					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		CAAGAGATGCGGACCACCCAG	0.517000														196			30		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245851582	245851582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245851582C>T	uc001ibf.1	+	11	5737	c.5297C>T	c.(5296-5298)gCg>gTg	p.A1766V	KIF26B_uc001ibg.1_Missense_Mutation_p.A1384V|KIF26B_uc001ibh.1_Missense_Mutation_p.A1008V	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1766	Ser-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGCCGCAGGCGGTGGGCCAG	0.706000														76			19		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73730979	73730979	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73730979C>T	uc010ttx.2	+	19	3085	c.2922C>T	c.(2920-2922)ggC>ggT	p.G974G	PAPLN_uc001xnw.4_Silent_p.G947G|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.G958G|PAPLN_uc010arm.3_Silent_p.G173G|PAPLN_uc010arn.3_Silent_p.G174G	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	974	Ig-like C2-type 1.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGACGCGGGCACCTACAGCT	0.637000														217			32		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23080093	23080093	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23080093C>T	uc002dll.3	-	15	3333	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	USP31_uc002dlk.3_Silent_p.S383S|USP31_uc010vca.2_Silent_p.S414S|USP31_uc010bxm.3_Silent_p.S399S	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	1111	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GCTTCTGTGGCGAAGGAGATG	0.587000														254			54		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9116799	9116799	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9116799A>G	uc010rbv.1	+	0		c.890A>G								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		CTGGACATGGACAGCATCATC	0.567000														48			7		0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32774973	32774973	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32774973T>C	uc011axj.1	+	10	1531	c.1454T>C	c.(1453-1455)gTt>gCt	p.V485A	CNOT10_uc011axi.1_Missense_Mutation_p.V197A|CNOT10_uc003cfc.1_Missense_Mutation_p.V425A|CNOT10_uc003cfd.1_Missense_Mutation_p.V424A|CNOT10_uc003cfe.1_Missense_Mutation_p.V425A|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_Missense_Mutation_p.V120A	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	425					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAGTCTATTGTTGGTCAAGGC	0.294000														64			11		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91964707	91964707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91964707C>T	uc004aqj.1	+	12	1835	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_uc010mqo.1_Silent_p.D290D|SECISBP2_uc004aqk.1_Silent_p.D512D|SECISBP2_uc011ltk.1_Silent_p.D584D|SECISBP2_uc011ltl.1_Silent_p.D517D	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567000														149			21		0	0	1	0	0
C19orf57	79173	broad.mit.edu	37	19	14000527	14000527	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14000527C>A	uc002mxl.1	-	5	1201	c.1142G>T	c.(1141-1143)aGg>aTg	p.R381M	C19orf57_uc002mxk.1_Missense_Mutation_p.R263M	NM_024323	NP_077299	Q0VDD7	CS057_HUMAN	Homo sapiens chromosome 19 open reading frame 57 (C19orf57), mRNA.	381					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CAAGGCCCTCCTGTGGCCTCC	0.667000														116			24		2.21704e-12	2.55528e-12	1	1	0
WISP2	8839	broad.mit.edu	37	20	43353497	43353497	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43353497G>A	uc002xmp.3	+	2	543	c.396G>A	c.(394-396)ccG>ccA	p.P132P	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Intron	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	132	VWFC.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				CCTGCGTGCCGCTGTGCAGCG	0.697000														37			14		0	0	1	0	0
DEM1	64789	broad.mit.edu	37	1	40980896	40980896	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40980896C>T	uc001cfp.3	+	2	885	c.680C>T	c.(679-681)gCc>gTc	p.A227V	DEM1_uc001cfq.3_Missense_Mutation_p.A227V|DEM1_uc001cfr.3_Missense_Mutation_p.A227V|DEM1_uc021omb.1_Missense_Mutation_p.A227V	NM_022774	NP_073611	Q9H790	EXO5_HUMAN	Homo sapiens defects in morphology 1 homolog (S. cerevisiae) (DEM1), mRNA.	227							DNA binding|exonuclease activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|urinary_tract(2)	10						ATCTTTGATGCCATGGTACAA	0.502000														184			60		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15552432	15552432	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15552432C>A	uc004cww.3	+	11	1305	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	BMX_uc004cwx.4_Missense_Mutation_p.L373I|BMX_uc004cwy.4_Missense_Mutation_p.L373I	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	373	SH2.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CATTCCAAAGCTTATTCATTA	0.338000														97			28		4.7796e-09	5.27959e-09	1	1	0
TAP2	6891	broad.mit.edu	37	6	32800500	32800500	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32800500C>T	uc011dqf.1	-	5	1169	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E	TAP2_uc003ocb.1_Silent_p.E349E|TAP2_uc003occ.3_Silent_p.E349E|TAP2_uc003ocd.3_Silent_p.E349E	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	349	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of T cell mediated cytotoxicity|positive regulation of antigen processing and presentation of peptide antigen via MHC class I	TAP complex|nucleus|plasma membrane	ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|tapasin binding										AGACTTCATGCTCCTCGGCCC	0.597000														172			54		0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64359294	64359294	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64359294G>A	uc001oam.1	+	0	1013	c.266G>A	c.(265-267)cGc>cAc	p.R89H	SLC22A12_uc009ypr.1_Missense_Mutation_p.R89H|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.R89H|SLC22A12_uc001oan.1_Missense_Mutation_p.R89H|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	89					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CACCAGTGCCGCCGCTTCCGC	0.667000														133			28		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47269916	47269916	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47269916G>A	uc002xtw.1	-	19	2352	c.2329C>T	c.(2329-2331)Cgg>Tgg	p.R777W	PREX1_uc002xtv.1_Missense_Mutation_p.R74W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	777					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.R777R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCTTCGCGCCGACTCCGGAAT	0.582000														305			52		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5280417	5280417	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5280417C>T	uc002gbm.4	+	13	2256	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W	RABEP1_uc010clc.1_Missense_Mutation_p.R671W|RABEP1_uc010cld.1_Missense_Mutation_p.R635W|RABEP1_uc010vsw.1_Missense_Mutation_p.R635W|RABEP1_uc002gbl.4_Missense_Mutation_p.R678W|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	678					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGGCACTGCGGGAGTTGGT	0.393000														168			39		0	0	1	0	0
AVPR2	554	broad.mit.edu	37	X	153172136	153172136	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153172136C>A	uc004fjh.4	+	2	1242	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AVPR2_uc004fjg.4_Missense_Mutation_p.S146Y|AVPR2_uc004fji.3_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	357					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)	CAAGATGAGTCCTGCACCACC	0.602000														104			36		2.42023e-17	2.90129e-17	1	1	0
MKI67	4288	broad.mit.edu	37	10	129907026	129907026	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129907026C>T	uc001lke.3	-	12	3273	c.3078G>A	c.(3076-3078)aaG>aaA	p.K1026K	MKI67_uc001lkf.3_Silent_p.K666K|MKI67_uc009yav.1_Silent_p.K601K|MKI67_uc009yaw.1_Silent_p.K176K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1026	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGCCTTCAACTGTT	0.507000														720			173		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52715095	52715095	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52715095C>T	uc001saf.2	-	0	88	c.25G>A	c.(25-27)Ggc>Agc	p.G9S		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	9	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCCACAGCCTATGGAGTTG	0.627000														223			56		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616368	22616368	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22616368C>A	uc010ajk.2	+	1	195	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	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|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		GGGAGAAAATCTCACTGTGTA	0.517000														69			13		0.000151284	0.000156809	1	1	0
ITGB7	3695	broad.mit.edu	37	12	53590575	53590575	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53590575G>A	uc009zmv.3	-	4	675	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	ITGB7_uc001scc.3_Silent_p.L202L|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	202	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAAAGGGCAGCACCGTTTTG	0.587000														64			16		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646919	57646919	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57646919C>T	uc002qnz.1	-	4	1172	c.786G>A	c.(784-786)tgG>tgA	p.W262*		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGATGATTTCCAGGAAAAGG	0.373000														138			36		0	0	1	0	0
SMARCD1	6602	broad.mit.edu	37	12	50483666	50483666	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50483666G>T	uc001rvx.4	+	7	942	c.772_splice	c.e7-1	p.W258_splice	SMARCD1_uc001rvy.4_Splice_Site_p.W258_splice|SMARCD1_uc009zlp.3_Splice_Site_p.W217_splice	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	258	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTCTCTGTAGTGGCACAGGA	0.537000														98			27		2.65835e-16	3.16856e-16	1	1	0
GPR123	84435	broad.mit.edu	37	10	134893885	134893885	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134893885C>A	uc001llw.3	+	3	830	c.830C>A	c.(829-831)gCt>gAt	p.A277D				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	329						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		TGCTCCAGGGCTGTGGGTAAG	0.682000														12			4		0.00909568	0.00920877	1	1	0
DLG2	1740	broad.mit.edu	37	11	84245751	84245751	+	Silent	SNP	G	A	A	rs149841754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84245751G>A	uc001paj.2	-	1	369	c.66C>T	c.(64-66)gaC>gaT	p.D22D	DLG2_uc010rsz.1_Silent_p.D22D|DLG2_uc010rta.1_Silent_p.D22D|DLG2_uc001pak.2_Silent_p.D127D|DLG2_uc001pal.1_Silent_p.D22D	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	22						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CATGTGGAGCGTCCTCATCTT	0.383000														178			40		0	0	1	0	0
CCR2	729230	broad.mit.edu	37	3	46399102	46399102	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46399102C>T	uc003cpn.4	+	1	569	c.84C>T	c.(82-84)taC>taT	p.Y28Y	CCR2_uc003cpm.4_Silent_p.Y28Y|CCR2_uc021wxa.1_Silent_p.Y28Y	NM_001123041	NP_001116513	P41597	CCR2_HUMAN	Homo sapiens chemokine (C-C motif) receptor 2 (CCR2), transcript variant A, mRNA.	28					JAK-STAT cascade|T-helper 17 cell chemotaxis|astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		ATTATGATTACGGTGCTCCCT	0.478000														218			50		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18198077	18198077	+	Missense_Mutation	SNP	C	T	T	rs145416998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18198077C>T	uc002gsx.1	-	9	1242	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Missense_Mutation_p.R236Q	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	338					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TCTCAACTTTCGAGAAGCCAG	0.433000														75			24		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45292982	45292982	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45292982C>A	uc010olf.2	-	16	2384	c.2372_splice	c.e16-1	p.G791_splice	PTCH2_uc021omv.1_Splice_Site_p.G791_splice|PTCH2_uc010olg.2_Splice_Site_p.G489_splice	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	791					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCCTGGATTCCTGGGGGAGAC	0.642000									Basal Cell Nevus syndrome					135			47		1.61004e-24	2.0018e-24	1	1	0
TGM3	7053	broad.mit.edu	37	20	2298000	2298000	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2298000G>A	uc002wfx.4	+	6	949	c.852G>A	c.(850-852)ctG>ctA	p.L284L		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	284					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTGCAGCGCTGCGGTCTTTGG	0.577000														204			35		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910367	57910367	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910367G>A	uc002qon.3	+	3	998	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	ZNF548_uc002qom.3_Missense_Mutation_p.A238T|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGTACAGTGCCAATTTCAT	0.388000														66			14		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034527	79034527	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034527C>T	uc003kgc.3	+	1	10011	c.9939C>T	c.(9937-9939)acC>acT	p.T3313T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3313						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATGTGGAGACCGTTGGTAACG	0.468000														123			27		0	0	1	0	0
RPS11	6205	broad.mit.edu	37	19	50001263	50001263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50001263C>T	uc002pob.1	+	3	393	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C		NM_001015	NP_001006	P62280	RS11_HUMAN	Homo sapiens ribosomal protein S11 (RPS11), mRNA.	105					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CTTCGAGAAGCGCCACAAGAA	0.567000														138			32		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44028018	44028018	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44028018C>A	uc003bdy.2	-	18	2513	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	EFCAB6_uc003bdz.2_Missense_Mutation_p.K581N|EFCAB6_uc010gzi.2_Missense_Mutation_p.K581N|EFCAB6_uc010gzj.1_Missense_Mutation_p.K31N|EFCAB6_uc010gzk.1_Non-coding_Transcript	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.L732L(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TAGGGAAAAGCTTCAGGCATT	0.562000														225			47		5.73435e-26	7.15707e-26	1	1	0
PIAS4	51588	broad.mit.edu	37	19	4033503	4033503	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4033503T>C	uc002lzg.3	+	8	1077	c.1067T>C	c.(1066-1068)aTg>aCg	p.M356T		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	356					Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TACCTGCAGATGAACGAGAAG	0.677000														28			10		0	0	1	0	0
MRPS35	60488	broad.mit.edu	37	12	27869269	27869269	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27869269C>T	uc001rih.3	+	2	270	c.199C>T	c.(199-201)Cct>Tct	p.P67S	MRPS35_uc001rii.3_Missense_Mutation_p.P67S	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					CCAGGACTGGCCTAGTGTTTA	0.408000														86			20		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47355139	47355139	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47355139C>A	uc021qis.1	-	28	3214	c.3159G>T	c.(3157-3159)gaG>gaT	p.E1053D	MYBPC3_uc021qir.1_Missense_Mutation_p.E705D	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1052	Ig-like C2-type 6.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGCCTTGTCCTCCATGTTCT	0.637000														136			28		8.58068e-18	1.03204e-17	1	1	0
COL6A2	1292	broad.mit.edu	37	21	47552176	47552176	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552176G>A	uc002zia.1	+	27	2852	c.2770G>A	c.(2770-2772)Gcc>Acc	p.A924T	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	924	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGTGGTGCACGCCATCAATGC	0.667000														42			11		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40529531	40529531	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40529531C>T	uc011azb.2	+	5	1957	c.1650C>T	c.(1648-1650)tgC>tgT	p.C550C	ZNF619_uc011aza.2_Silent_p.C452C|ZNF619_uc011azc.2_Silent_p.C510C|ZNF619_uc011azd.2_Silent_p.C466C|ZNF619_uc003ckj.3_Silent_p.C494C|ZNF619_uc021wwh.1_Silent_p.C501C	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACATACCTGCTCTGCCCTAG	0.547000														93			22		0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65243637	65243637	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65243637C>T	uc010yqa.2	+	4	1147	c.864C>T	c.(862-864)atC>atT	p.I288I	SLC1A4_uc010ypz.2_Intron|SLC1A4_uc002sdh.3_Silent_p.I68I	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	288					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AAGACATCATCGTGCTGGTGA	0.458000														272			23		0	0	1	0	0
VSIG2	23584	broad.mit.edu	37	11	124618371	124618371	+	Missense_Mutation	SNP	G	T	T	rs140273632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124618371G>T	uc001qas.3	-	5	842	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	VSIG2_uc001qat.3_Missense_Mutation_p.L256M	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	256						integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GCAACTGACAGCAACAGCACG	0.582000														122			21		7.45023e-12	8.53574e-12	1	1	0
POLE	5426	broad.mit.edu	37	12	133201511	133201511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133201511C>T	uc001uks.1	-	47	6771	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	POLE_uc001ukq.1_Missense_Mutation_p.A453T|POLE_uc001ukr.1_Missense_Mutation_p.A1047T|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	2243					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	p.A2243S(3)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATGGTGAGGGCGAAGTCTCCC	0.657000								DNA polymerases (catalytic subunits)						89			19		0	0	1	0	0
TNIP2	79155	broad.mit.edu	37	4	2747209	2747209	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2747209C>A	uc003gfg.2	-	2	708	c.621G>T	c.(619-621)caG>caT	p.Q207H	TNIP2_uc003gff.2_Missense_Mutation_p.Q100H	NM_024309	NP_001154999	Q8NFZ5	TNIP2_HUMAN	Homo sapiens TNFAIP3 interacting protein 2 (TNIP2), transcript variant 1, mRNA.	207						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GATTTTCTTCCTGCAACTTCT	0.448000														43			9		2.17888e-05	2.28139e-05	1	1	0
ZNF567	163081	broad.mit.edu	37	19	37211001	37211001	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211001C>T	uc010xtl.2	+	5	1597	c.1375C>T	c.(1375-1377)Cgc>Tgc	p.R459C	ZNF567_uc002oeo.1_Missense_Mutation_p.R459C|ZNF567_uc010xtk.1_Missense_Mutation_p.R459C|ZNF567_uc002oep.4_Missense_Mutation_p.R428C|ZNF567_uc002oeq.1_Missense_Mutation_p.R428C	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAAGTCCTTCCGCCAGAAGAC	0.433000														95			23		0	0	1	0	0
DBP	1628	broad.mit.edu	37	19	49134162	49134162	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134162C>T	uc002pjx.4	-	3	1298	c.910G>A	c.(910-912)Gtg>Atg	p.V304M	DBP_uc002pjy.2_3'UTR	NM_001352	NP_001343	Q10586	DBP_HUMAN	Homo sapiens D site of albumin promoter (albumin D-box) binding protein (DBP), mRNA.	304	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCCTGGCGCACGGCCACAACT	0.697000														38			7		0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108308205	108308205	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108308205G>T	uc003dxb.4	-	0	287	c.18C>A	c.(16-18)tgC>tgA	p.C6*	DZIP3_uc003dxd.3_5'Flank|KIAA1524_uc010hpw.1_5'UTR|DZIP3_uc003dxe.1_5'Flank	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	6						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGGACTTCAAGCAGGCAGTGG	0.602000														42			7		8.12818e-05	8.44191e-05	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141543376	141543376	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543376G>A	uc010ioj.3	-	20	4046	c.3774C>T	c.(3772-3774)gaC>gaT	p.D1258D		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1258						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGATTTCATAGTCACTGGCCG	0.552000														170			27		0	0	1	0	0
PKNOX1	5316	broad.mit.edu	37	21	44433326	44433326	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44433326C>T	uc002zcq.1	+	4	688	c.500C>T	c.(499-501)cCg>cTg	p.P167L	PKNOX1_uc002zcp.1_Missense_Mutation_p.P167L|PKNOX1_uc011aex.1_Missense_Mutation_p.P50L|PKNOX1_uc002zcr.3_Missense_Mutation_p.P167L	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	167							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						CCTGGAAGCCCGTACTCACCA	0.473000														122			10		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103014868	103014868	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103014868G>A	uc003vbz.3	-	19	2475	c.2213C>T	c.(2212-2214)aCt>aTt	p.T738I	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.T706I	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	738					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AGTGGCAGGAGTGGCATTGGG	0.498000														45			15		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56342265	56342265	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56342265G>T	uc002ivt.3	+	9	1765	c.1449G>T	c.(1447-1449)caG>caT	p.Q483H	LPO_uc010wns.2_Missense_Mutation_p.Q424H|LPO_uc010dcp.3_Missense_Mutation_p.Q400H|LPO_uc010dcq.3_Missense_Mutation_p.Q154H|LPO_uc010dcr.3_Missense_Mutation_p.Q46H	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	483					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGAATTATCAGCCATGGGGGC	0.522000														92			25		2.79863e-10	3.14589e-10	1	1	0
LINGO4	339398	broad.mit.edu	37	1	151773422	151773422	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773422G>A	uc001ezf.1	-	1	1949	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W	LINGO4_uc021oyu.1_Missense_Mutation_p.R587W	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	587						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGTGACCCGGTTACCCCCA	0.542000														162			58		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23904672	23904672	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23904672C>T	uc001uon.2	-	9	13932	c.13343G>A	c.(13342-13344)cGc>cAc	p.R4448H	SACS_uc001uoo.2_Missense_Mutation_p.R4301H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4448					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAGCCATCTGCGTGCTTCCAC	0.468000														218			30		0	0	1	0	0
ZNF101	94039	broad.mit.edu	37	19	19790189	19790189	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19790189G>A	uc002nni.2	+	3	501	c.391G>A	c.(391-393)Gag>Aag	p.E131K	ZNF101_uc010ecg.2_Missense_Mutation_p.E11K|ZNF101_uc002nnj.2_Missense_Mutation_p.E11K	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAACGATCTGAGTGTGGTGG	0.527000														152			11		0	0	1	0	0
TESK2	10420	broad.mit.edu	37	1	45811107	45811107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45811107C>T	uc001cns.1	-	10	1524	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	TESK2_uc009vxr.1_Missense_Mutation_p.R345H|TESK2_uc010olo.1_Missense_Mutation_p.R291H|TESK2_uc009vxs.1_Missense_Mutation_p.R166H	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	374					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGGGGCTTACGGGAAAAGAT	0.557000														123			10		0	0	1	0	0
PIAS3	10401	broad.mit.edu	37	1	145584278	145584278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145584278G>A	uc001eoc.1	+	10	1520	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	PIAS3_uc001eod.1_Missense_Mutation_p.A146T	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	477					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGCCATCCCGGCCCTACCTGG	0.488000														173			57		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13345818	13345818	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13345818G>A	uc002mwy.3	-	33	5402	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	CACNA1A_uc002mwx.3_Silent_p.D428D|CACNA1A_uc010dzc.2_Silent_p.D1248D|CACNA1A_uc010xnd.2_Silent_p.D1725D|CACNA1A_uc021ups.1_Silent_p.D1722D|CACNA1A_uc010xne.2_Silent_p.D1725D|CACNA1A_uc010dze.2_Silent_p.D1722D|CACNA1A_uc021upt.1_Silent_p.D1723D|CACNA1A_uc002mwv.3_Silent_p.D239D	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1723					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)	CACTGTCCTCGTCCTCCACGT	0.542000											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		211			36		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816737	6816737	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816737G>A	uc001mes.1	-	0	403	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCCAGAAAGGACATATTAGC	0.438000														142			32		0	0	1	0	0
GSTM2P1	442245	broad.mit.edu	37	6	111368290	111368290	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111368290C>A	uc003puq.3	-	0	468	c.333G>T	c.(331-333)caG>caT	p.Q111H						Homo sapiens glutathione S-transferase mu 2 (muscle) pseudogene 1 (GSTM2P1), non-coding RNA.																		GAAACAATAGCTGCTTCCCCA	0.483000														89			17		1.02788e-11	1.17486e-11	1	1	0
PPP1R9B	84687	broad.mit.edu	37	17	48218701	48218701	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48218701T>G	uc002iqh.4	-	4	1642	c.1639A>C	c.(1639-1641)Aca>Cca	p.T547P		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	553	PDZ.				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCAGACTTGTTCCATCCACC	0.627000														23			10		0	0	1	0	0
FKBP1A	2280	broad.mit.edu	37	20	1352850	1352850	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1352850G>T	uc002wey.3	-	3	407	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	SDCBP2_uc021vzo.1_Intron|SDCBP2_uc010gac.2_Intron|LOC100507495_uc002wew.3_Intron|LOC100507495_uc002wex.3_Intron|LOC100507495_uc021vzp.1_Intron|FKBP1A_uc002wez.3_Silent_p.I40I|FKBP1A_uc002wfb.3_Silent_p.I40I|FKBP1A_uc002wfa.3_Missense_Mutation_p.S78Y|FKBP1A_uc010gaf.2_Non-coding_Transcript|FKBP1A_uc010gae.2_Missense_Mutation_p.S62Y	NM_000801	NP_463460	P62942	FKB1A_HUMAN	Homo sapiens FK506 binding protein 1A, 12kDa (FKBP1A), transcript variant 1, mRNA.	78	PPIase FKBP-type.				'de novo' protein folding|SMAD protein complex assembly|T cell activation|beta-amyloid formation|fibril organization|heart trabecula formation|negative regulation of protein phosphatase type 2B activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein binding|positive regulation of protein ubiquitination|protein maturation by protein folding|protein refolding|regulation of activin receptor signaling pathway|regulation of immune response|regulation of ryanodine-sensitive calcium-release channel activity|ventricular cardiac muscle tissue morphogenesis	axon|cytosol|sarcoplasmic reticulum membrane|terminal cisterna	FK506 binding|SMAD binding|activin binding|peptidyl-prolyl cis-trans isomerase activity|signal transducer activity|type I transforming growth factor beta receptor binding			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ATAATCTGGAGATATAGTCAG	0.488000														95			14		1.05317e-09	1.17384e-09	1	1	0
NSUN5P2	260294	broad.mit.edu	37	7	72419276	72419276	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72419276C>T	uc003two.3	-	5	856	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Non-coding_Transcript|NSUN5P2_uc003twn.3_Missense_Mutation_p.R222Q|NSUN5P2_uc003twm.3_Missense_Mutation_p.R198Q|NSUN5P2_uc003twp.3_Missense_Mutation_p.R222Q|NSUN5P2_uc003twq.3_3'UTR|NSUN5P2_uc010lan.2_Missense_Mutation_p.R94Q					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						GGGGGAAGCCCGGAGGCAGTG	0.657000														132			8		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605363	58605363	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605363A>C	uc010tro.2	-	2	1026	c.828T>G	c.(826-828)ggT>ggG	p.G276G	C14orf37_uc001xdc.3_Silent_p.G238G|C14orf37_uc001xdd.3_Silent_p.G238G|C14orf37_uc001xde.3_Silent_p.G238G	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGGACTCAGCACCAGGAAAAG	0.502000														111			27		0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2276371	2276371	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2276371C>T	uc002lvn.2	-	3	830	c.730G>A	c.(730-732)Ggg>Agg	p.G244R	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	244										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCGCCCCGGGCAGTGTG	0.716000														51			8		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113513898	113513898	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113513898G>A	uc002tie.2	-	3	1129	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Silent_p.N185N|CKAP2L_uc010yxq.1_Silent_p.N185N	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	350						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTTGCTTGATGTTTGGATGTC	0.433000														154			49		0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63010504	63010504	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63010504C>T	uc002jfc.3	-	3	1214	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	GNA13_uc010wqh.2_Silent_p.R240R	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	335					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	p.R334C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						GTTGCTGGTCCCGGCGTTTGT	0.473000														146			14		0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958504	34958504	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34958504C>A	uc002hne.3	+	0	480	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	MRM1_uc002hnf.3_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	89					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GGCCGAGCTGCTCCGGATGGC	0.687000														178			40		8.69298e-16	1.0319e-15	1	1	0
ZNF800	168850	broad.mit.edu	37	7	127013819	127013819	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127013819C>T	uc010lla.2	-	4	2283	c.1571G>A	c.(1570-1572)tGc>tAc	p.C524Y	ZNF800_uc003vlw.1_Missense_Mutation_p.C427Y|ZNF800_uc003vlx.1_Missense_Mutation_p.C524Y|ZNF800_uc003vly.1_Missense_Mutation_p.C524Y	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TTCATAAGTGCAAAGAGGACA	0.363000														111			12		0	0	1	0	0
TSEN54	283989	broad.mit.edu	37	17	73512857	73512857	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73512857G>A	uc002jof.1	+	1	120	c.87G>A	c.(85-87)cgG>cgA	p.R29R	CASKIN2_uc002joc.3_5'Flank|CASKIN2_uc002jod.3_5'Flank|TSEN54_uc002joe.1_Silent_p.R29R	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	29					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCGCTCGCGGTCGCAGAAGC	0.771000														47			4		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50899987	50899987	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50899987C>T	uc003blh.3	-	21	2999	c.2804G>A	c.(2803-2805)cGg>cAg	p.R935Q	SBF1_uc011arx.2_Missense_Mutation_p.R599Q|SBF1_uc003bli.2_Missense_Mutation_p.R936Q	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	935	GRAM.				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)		GAAGATGACCCGGTACGTGGT	0.682000														105			6		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595695	140595695	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595695C>A	uc003lja.1	+	0	2187	c.2000C>A	c.(1999-2001)tCc>tAc	p.S667Y		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	667	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCTTCTCCCAGCCCTAC	0.701000														375			91		1.39521e-32	1.7618e-32	1	1	0
GOLPH3	64083	broad.mit.edu	37	5	32126532	32126532	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126532T>G	uc003jhp.1	-	3	968	c.683A>C	c.(682-684)gAc>gCc	p.D228A		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	228					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCGGTGAGGGTCATTCACCCA	0.502000														142			42		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145623813	145623813	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145623813C>A	uc003zcj.3	-	18	1848	c.1773G>T	c.(1771-1773)gaG>gaT	p.E591D		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	591					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTCCATGATCTCCTGCCCCG	0.672000														367			37		1.66425e-11	1.89714e-11	1	1	0
BMP1	649	broad.mit.edu	37	8	22064400	22064400	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22064400G>A	uc003xbg.3	+	16	2533	c.2267G>A	c.(2266-2268)gGt>gAt	p.G756D	BMP1_uc011kzc.2_Missense_Mutation_p.G505D|BMP1_uc003xbh.3_Intron|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	756	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCCACCAGTGGTACCATCACC	0.622000														114			21		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081272	97081272	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97081272C>A	uc004aup.1	-	6	1767	c.1746G>T	c.(1744-1746)caG>caT	p.Q582H		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	582										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				TGGGGGAATCCTGACATCCCA	0.672000														95			24		9.86323e-18	1.1857e-17	1	1	0
CCNE1	898	broad.mit.edu	37	19	30313366	30313366	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313366C>T	uc002nsn.3	+	10	1149	c.966C>T	c.(964-966)tgC>tgT	p.C322C	CCNE1_uc002nso.3_Silent_p.C307C	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	322					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCAGTGGTGCGACATAGAGA	0.498000			A		serous ovarian									188			52		0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55905003	55905003	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55905003T>A	uc010riz.2	-	0	192	c.192A>T	c.(190-192)agA>agT	p.R64S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TAGCTAGATGTCTCAGGAAAA	0.433000														211			51		0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140302109	140302109	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140302109T>C	uc010lnk.3	-	2	609	c.89A>G	c.(88-90)aAc>aGc	p.N30S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N30S|DENND2A_uc003vvw.3_Missense_Mutation_p.N30S|DENND2A_uc003vvx.3_Missense_Mutation_p.N30S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	30										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TGGGCAAGGGTTCTGAACACC	0.522000														137			29		0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	623477	623477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:623477G>A	uc002lpf.1	-	5	1323	c.1267C>T	c.(1267-1269)Cca>Tca	p.P423S		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	423					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTTGCTTGGCAACGTGGGC	0.682000														171			38		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14266186	14266186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14266186G>A	uc010xnn.2	-	18	3590	c.3294C>T	c.(3292-3294)tgC>tgT	p.C1098C	LPHN1_uc010xno.2_Silent_p.C1093C|LOC100507373_uc002myf.3_Non-coding_Transcript	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1098					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.C1098Y(1)		central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTGTAAGGCGCAGTGAAAGA	0.592000														232			36		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46052879	46052879	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46052879G>A	uc010wlc.2	+	7	698	c.574_splice	c.e7-1	p.G192_splice	CDK5RAP3_uc002imq.1_Splice_Site|CDK5RAP3_uc002imr.3_Splice_Site_p.G172_splice|CDK5RAP3_uc002ims.3_Splice_Site_p.G85_splice	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	172					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CCCCTCTCTAGGGCGAAAATG	0.572000														112			29		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682471	48682471	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682471G>T	uc003cuf.1	-	26	8260	c.8260C>A	c.(8260-8262)Ctg>Atg	p.L2754M	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.L640M|CELSR3_uc003cul.3_Missense_Mutation_p.L2657M|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2657					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCTCACCCAGCAGCACAGCA	0.662000														71			17		1.02788e-11	1.17486e-11	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67266820	67266820	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67266820A>G	uc002jif.2	-	20	4182	c.2964T>C	c.(2962-2964)agT>agC	p.S988S	ABCA5_uc002jib.2_5'Flank|ABCA5_uc002jic.2_Silent_p.S211S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Silent_p.S988S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	988					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GATAGTAGTTACTAATGATAT	0.294000														106			33		0	0	1	0	0
BPIFB1	92747	broad.mit.edu	37	20	31885345	31885345	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31885345C>T	uc002wyw.1	+	6	773	c.612C>T	c.(610-612)atC>atT	p.I204I	BPIFB1_uc010gej.1_Silent_p.I204I	NM_033197	NP_149974	Q8TDL5	LPLC1_HUMAN	Homo sapiens BPI fold containing family B, member 1 (BPIFB1), mRNA.	204						extracellular space	lipid binding										GTCCCGTGATCGAGGCTTCCT	0.602000														224			20		0	0	1	0	0
CDK5R1	8851	broad.mit.edu	37	17	30815096	30815096	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30815096G>A	uc002hhn.3	+	1	679	c.458G>A	c.(457-459)cGc>cAc	p.R153H	CDK5R1_uc010wca.1_Missense_Mutation_p.R153H|CDK5R1_uc021tux.1_Missense_Mutation_p.R153H|CDK5R1_uc010ctc.3_5'UTR	NM_003885	NP_003876	Q15078	CD5R1_HUMAN	Homo sapiens cyclin-dependent kinase 5, regulatory subunit 1 (p35) (CDK5R1), mRNA.	153					axon guidance|axonal fasciculation|brain development|cell proliferation|embryo development|ionotropic glutamate receptor signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of transcription, DNA-dependent|neuron cell-cell adhesion|neuron migration|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of neuron apoptosis|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation	axon|contractile fiber|cyclin-dependent protein kinase 5 holoenzyme complex|cytosol|dendritic spine|growth cone|neuromuscular junction|neuronal cell body|perinuclear region of cytoplasm|plasma membrane	cadherin binding|calcium ion binding|protein kinase binding	p.R153G(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			GAGCTGCTTCGCTGCCTGGGT	0.677000														152			43		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666258	20666258	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666258C>T	uc010tlb.2	+	0	764	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	255					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)		ATTGTGGGGTCCTATGCTCTG	0.498000														287			67		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44680638	44680638	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44680638C>T	uc002oys.3	+	5	1403	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	ZNF226_uc002oyp.3_Missense_Mutation_p.S408F|ZNF226_uc002oyq.3_Missense_Mutation_p.S291F|ZNF226_uc002oyr.3_Missense_Mutation_p.S291F|ZNF226_uc002oyt.3_Missense_Mutation_p.S408F	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CATCTTCAATCCCATCAAAGA	0.443000														93			16		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108335411	108335411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108335411G>A	uc003dxd.3	+	4	704	c.282G>A	c.(280-282)caG>caA	p.Q94Q	DZIP3_uc003dxf.1_Silent_p.Q94Q|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.Q94Q	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	94					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CTAACAGCCAGAATGGTGAGG	0.348000														102			20		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76072528	76072528	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76072528G>A	uc010kbe.3	-	3	921	c.391C>T	c.(391-393)Cac>Tac	p.H131Y	FILIP1_uc003phy.1_Missense_Mutation_p.H128Y|FILIP1_uc003phz.3_Missense_Mutation_p.H29Y|FILIP1_uc003pia.3_Missense_Mutation_p.H128Y	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	128								p.H128N(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GCATCTCGGTGCAGGACCCGC	0.493000														171			39		0	0	1	0	0
MRTO4	51154	broad.mit.edu	37	1	19585280	19585280	+	Missense_Mutation	SNP	G	A	A	rs146948534		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19585280G>A	uc001bbs.3	+	7	931	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	226					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCCAGAGAGCGCATCTGAGTC	0.507000														70			22		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9514972	9514972	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9514972C>A	uc003brt.3	+	19	3683	c.3248C>A	c.(3247-3249)gCt>gAt	p.A1083D	SETD5_uc003bru.3_Missense_Mutation_p.A985D|SETD5_uc003brv.3_Missense_Mutation_p.A972D|SETD5_uc010hck.3_Missense_Mutation_p.A565D|SETD5_uc003brx.3_Missense_Mutation_p.A752D	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1083										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAAAATTCTGCTGGTGGGGGA	0.488000														57			13		7.93312e-07	8.47869e-07	1	1	0
CYP2C19	1557	broad.mit.edu	37	10	96447959	96447959	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96447959G>T	uc001kjv.4	+	2	735	c.409G>T	c.(409-411)Ggg>Tgg	p.G137W	CYP2C19_uc001kjw.4_Missense_Mutation_p.G137W|CYP2C19_uc009xus.1_Missense_Mutation_p.G2W|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	137					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTTTGGGATGGGGAAGAGGAG	0.478000														149			22		2.00529e-23	2.48385e-23	1	1	0
HEATR8	374977	broad.mit.edu	37	1	55144999	55144999	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55144999C>A	uc010ooe.1	+	11	2437	c.2113C>A	c.(2113-2115)Ctg>Atg	p.L705M	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.L273M|HEATR8_uc010ood.1_Missense_Mutation_p.L223M|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.L705M|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	705						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCTGGAAGGGCTGAAAGGCAG	0.592000														209			11		2.68362e-12	3.09043e-12	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98373767	98373767	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373767G>A	uc002syh.4	-	40	5676	c.5447C>T	c.(5446-5448)gCc>gTc	p.A1816V	TMEM131_uc002syg.3_Missense_Mutation_p.A196V	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1816						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAAGGGAAGGGCGCTGCTAAG	0.592000														144			36		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345158	43345158	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345158G>A	uc010rfh.1	+	5	895	c.722G>A	c.(721-723)tGc>tAc	p.C241Y	API5_uc001mxf.2_Missense_Mutation_p.C241Y|API5_uc010rfg.1_Missense_Mutation_p.C230Y|API5_uc010rfi.1_Missense_Mutation_p.C187Y|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Missense_Mutation_p.C115Y	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	241					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTCTTACAGTGCACTCGGCAG	0.458000														282			18		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247654999	247654999	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654999G>A	uc001icz.2	+	0	630	c.570G>A	c.(568-570)gaG>gaA	p.E190E		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTCTTGTGAGGAAACCATGC	0.572000														203			74		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215812508	215812508	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215812508G>A	uc001hku.1	-	68	15428	c.15041C>T	c.(15040-15042)tCt>tTt	p.S5014F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5014	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)		AAGTCCAGTAGAGGTATCATA	0.398000										HNSCC(13;0.011)				185			55		0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51686260	51686260	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686260G>A	uc002lfg.2	-	5	1352	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	375					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TGCTGTACTCGCTCTTCCTGT	0.398000														102			16		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88036157	88036157	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88036157C>T	uc011ccz.2	+	11	2447	c.2172C>T	c.(2170-2172)agC>agT	p.S724S	AFF1_uc003hqj.4_Silent_p.S717S|AFF1_uc003hqk.4_Silent_p.S717S|AFF1_uc011cda.2_Silent_p.S355S	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	717						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		ACAGTGGCAGCGGCAGCAGGA	0.622000														98			21		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242062165	242062165	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242062165G>A	uc002wao.2	-	11	3187	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	PASK_uc010zol.2_Silent_p.D832D|PASK_uc010zom.2_Silent_p.D983D|PASK_uc010fzl.2_Silent_p.D1018D|PASK_uc010zon.2_Silent_p.D799D|PASK_uc021vzf.1_Silent_p.D1018D|PASK_uc002wap.3_Silent_p.D561D|PASK_uc002waq.3_Silent_p.D1018D	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1018	Protein kinase.				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)		TTTTTTCCTTGTCCACAGCAG	0.602000														237			26		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994053	140994053	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994053C>A	uc004fbt.3	+	3	1187	c.863C>A	c.(862-864)cCt>cAt	p.P288H	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	288							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CAGAGTTCCCCTGAGAGAACT	0.488000										HNSCC(15;0.026)				220			68		7.82978e-24	9.70997e-24	1	1	0
TBC1D10B	26000	broad.mit.edu	37	16	30370680	30370680	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30370680C>A	uc002dxu.2	-	6	1473	c.1455G>T	c.(1453-1455)gaG>gaT	p.E485D	TBC1D10B_uc002dxt.2_5'UTR	NM_015527	NP_056342	Q4KMP7	TB10B_HUMAN	Homo sapiens TBC1 domain family, member 10B (TBC1D10B), mRNA.	485	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			GCTGAATGGCCTCCTGCAGGT	0.667000														18			7		0.0293803	0.0295844	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16987345	16987345	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16987345C>T	uc002ney.2	+	16	2934	c.2911C>T	c.(2911-2913)Ctg>Ttg	p.L971L	SIN3B_uc002nez.2_Silent_p.L939L|SIN3B_uc010xpi.1_Silent_p.L529L|SIN3B_uc010eaj.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	971					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CATCGAGCTCCTGGACACCGA	0.667000														101			27		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409347	204409347	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409347G>A	uc001haw.3	-	22	3831	c.3352C>T	c.(3352-3354)Cgc>Tgc	p.R1118C	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1090C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1118	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GAGAAGCAGCGGAAGATGACC	0.597000														185			28		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247040288	247040288	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247040288G>T	uc001ibv.2	-	22	3025	c.2928C>A	c.(2926-2928)gcC>gcA	p.A976A	AHCTF1_uc009xgs.1_5'UTR|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	967	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TCAGCTTCAAGGCAGGCACAT	0.388000														90			23		5.26018e-13	6.10868e-13	1	1	0
RELN	5649	broad.mit.edu	37	7	103276725	103276725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103276725G>A	uc022ajr.1	-	17	2420	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	RELN_uc022ajq.1_Missense_Mutation_p.R754W|RELN_uc010liz.3_Missense_Mutation_p.R754W	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	754					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTGACGCCGCCCATCTTTG	0.443000														66			21		0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2770555	2770555	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2770555C>A	uc003mtz.3	+	2	1407	c.1216C>A	c.(1216-1218)Ccc>Acc	p.P406T	WRNIP1_uc003mua.3_Missense_Mutation_p.P381T	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	406					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.R405S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTCTAGCCGTCCCACTGACCC	0.547000														103			6		0.0215528	0.0217347	1	1	0
NELL2	4753	broad.mit.edu	37	12	44913995	44913995	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913995A>G	uc010skz.1	-	19	2468	c.2343T>C	c.(2341-2343)tgT>tgC	p.C781C	NELL2_uc001rof.3_Silent_p.C730C|NELL2_uc001rog.2_Silent_p.C731C|NELL2_uc001roh.2_Silent_p.C731C|NELL2_uc009zkd.2_Silent_p.C683C|NELL2_uc010sla.1_Silent_p.C754C	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	731	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAGGGGCCAACAATCAACTT	0.557000														48			6		0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183822576	183822576	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183822576A>G	uc010hxr.3	+	3	662	c.468_splice	c.e3-1	p.L156_splice	HTR3E_uc010hxq.3_Splice_Site_p.L130_splice|HTR3E_uc003fml.4_Splice_Site_p.L115_splice|HTR3E_uc003fmm.3_Splice_Site_p.L145_splice|HTR3E_uc003fmn.3_Splice_Site_p.L130_splice	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	130						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)			CTCCTCCAGCATGGATGTGGA	0.438000														140			7		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898738	130898738	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130898738G>A	uc001uil.2	-	13	2800	c.2584C>T	c.(2584-2586)Ctc>Ttc	p.L862F		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	862	SH3 2.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GACATGGTGAGCGGGTCGTAG	0.572000														209			43		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63312262	63312262	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312262G>A	uc001nxf.4	+	2	356	c.288G>A	c.(286-288)gcG>gcA	p.A96A		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	96					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TCAGTTCTGCGAAGGAGATGG	0.527000														218			50		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126100554	126100554	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126100554C>A	uc001lhp.3	-	1	320	c.187G>T	c.(187-189)Gag>Tag	p.E63*	OAT_uc001lhr.3_Intron|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TTTCCTCTCTCCAGGGCTACA	0.348000														162			31		2.61193e-14	3.06651e-14	1	1	0
TSPAN2	10100	broad.mit.edu	37	1	115601596	115601596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115601596G>A	uc001eft.3	-	4	420	c.352C>T	c.(352-354)Cga>Tga	p.R118*	TSPAN2_uc021osc.1_Nonsense_Mutation_p.R118*	NM_005725	NP_005716	O60636	TSN2_HUMAN	Homo sapiens tetraspanin 2 (TSPAN2), mRNA.	118			R -> L (in dbSNP:rs9659602).			integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TGAACATGTCGGATAGCCTGA	0.418000														138			33		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247013648	247013648	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247013648A>C	uc001ibv.2	-	32	5784	c.5687T>G	c.(5686-5688)aTt>aGt	p.I1896S	AHCTF1_uc009xgs.1_Missense_Mutation_p.I748S|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1887	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTTATAATTTCAACACT	0.299000														65			34		0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46717749	46717749	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46717749G>T	uc003cqa.2	-	18	2365	c.2172C>A	c.(2170-2172)ctC>ctA	p.L724L	ALS2CL_uc003cpx.2_Silent_p.L71L|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.L239L|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.L724L	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	724					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGCAGCCCAGAGTTCCTGGG	0.607000														154			27		1.77063e-15	2.09702e-15	1	1	0
C1orf74	148304	broad.mit.edu	37	1	209956266	209956266	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956266C>A	uc001hhp.1	-	1	957	c.714G>T	c.(712-714)tgG>tgT	p.W238C	C1orf74_uc021pio.1_Missense_Mutation_p.W238C	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	238										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGTCCTTCTCCCAGGTGTTTA	0.512000														155			31		8.58068e-18	1.03204e-17	1	1	0
MKLN1	4289	broad.mit.edu	37	7	131151154	131151154	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131151154G>T	uc011kpm.2	+	14	1972	c.1908G>T	c.(1906-1908)aaG>aaT	p.K636N	MKLN1_uc011kpl.2_Missense_Mutation_p.K613N|MKLN1_uc010lmh.2_Missense_Mutation_p.K636N|MKLN1_uc003vqs.3_Missense_Mutation_p.K429N|MKLN1_uc003vqu.3_Missense_Mutation_p.K126N	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	636					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GGCATTGCAAGTACCTCATAA	0.333000														70			15		1.05317e-09	1.17384e-09	1	1	0
DEFB128	245939	broad.mit.edu	37	20	168663	168663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:168663C>T	uc002wcz.1	-	1	146	c.146G>A	c.(145-147)gGg>gAg	p.G49E		NM_001037732	NP_001032821	Q7Z7B8	DB128_HUMAN	Homo sapiens defensin, beta 128 (DEFB128), mRNA.	49					defense response to bacterium	extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5		all_cancers(10;0.00499)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ACATAATTTCCCACTTAGACA	0.388000														290			62		0	0	1	0	0
ARHGAP18	93663	broad.mit.edu	37	6	129950516	129950516	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129950516G>A	uc003qbr.3	-	4	857	c.768C>T	c.(766-768)ggC>ggT	p.G256G	ARHGAP18_uc011ebw.2_Silent_p.G256G|ARHGAP18_uc021zfe.1_Silent_p.G253G	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	256					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TGGCATCATCGCCTTTGCTCT	0.413000														172			54		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420156	27420156	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420156T>G	uc003njj.3	-	4	1993	c.1182A>C	c.(1180-1182)gaA>gaC	p.E394D	ZNF184_uc010jqv.3_Missense_Mutation_p.E394D|ZNF184_uc003nji.3_Missense_Mutation_p.E394D	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCTTTCCACATTCATTACATT	0.378000														78			19		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43504288	43504288	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43504288C>T	uc002zag.1	+	2	414	c.414C>T	c.(412-414)gaC>gaT	p.D138D	UMODL1_uc002zad.1_Silent_p.D66D|UMODL1_uc002zae.1_Silent_p.D66D|UMODL1_uc002zaf.1_Silent_p.D138D|UMODL1_uc010gow.1_5'Flank|UMODL1_uc002zai.1_5'Flank|UMODL1_uc010gox.1_5'Flank|UMODL1_uc010goy.1_5'Flank|UMODL1_uc002zaj.1_5'Flank|UMODL1_uc010goz.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	138	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGACATCGACTGTCCTGGAC	0.652000														307			13		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425709	75425709	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425709C>T	uc002sng.2	-	0	937	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TACR1_uc002snh.3_Missense_Mutation_p.A118T	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	118					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TAGATACTGGCGAAGACAGCG	0.498000														167			31		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167319	89167319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167319G>A	uc010cig.2	+	1	438	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Missense_Mutation_p.R77H|ACSF3_uc021tmq.1_Missense_Mutation_p.R77H|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	77					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CGCAGCCTTCGCCTGTCCCAG	0.652000														144			33		0	0	1	0	0
SMARCC1	6599	broad.mit.edu	37	3	47742803	47742803	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47742803A>G	uc003crq.2	-	10	1248	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A	SMARCC1_uc011bbd.1_Missense_Mutation_p.V268A	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	377					chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TATATTGGGTACAGGTGTTGG	0.398000														80			19		0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135051528	135051528	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051528C>A	uc010quy.1	+	0	121	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	37					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		ACCCCCAGGCCTGCCGACTTC	0.716000														28			8		0.000274275	0.000282808	1	1	0
DIP2C	22982	broad.mit.edu	37	10	410407	410407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410407C>T	uc001ifp.3	-	19	2474	c.2384G>A	c.(2383-2385)gGc>gAc	p.G795D	DIP2C_uc009xhi.1_Missense_Mutation_p.G181D|DIP2C_uc010pzz.1_Missense_Mutation_p.G116D	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	795						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACCATGAGGCCATCCATCTT	0.617000														221			54		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367133	367133	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367133C>T	uc003gaa.2	+	3	1084	c.907C>T	c.(907-909)Cga>Tga	p.R303*	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	303					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						CAAACATAAGCGAATTCATAC	0.378000														107			14		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158639514	158639514	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158639514C>A	uc001fst.1	-	12	1861	c.1662G>T	c.(1660-1662)aaG>aaT	p.K554N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	554					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)					CACGGATAGCCTTGATGTTCT	0.428000														335			108		3.10586e-51	3.96428e-51	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62293900	62293900	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62293900G>A	uc001ntl.3	-	4	8289	c.7989C>T	c.(7987-7989)ccC>ccT	p.P2663P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2663					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCAGCCTTGGGCAGCTTCA	0.512000														400			81		0	0	1	0	0
MIEN1	84299	broad.mit.edu	37	17	37885946	37885946	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37885946C>A	uc002hsq.3	-	2	296	c.256G>T	c.(256-258)Gag>Tag	p.E86*		NM_032339	NP_115715	Q9BRT3	CQ037_HUMAN	Homo sapiens migration and invasion enhancer 1 (MIEN1), mRNA.	86					cell redox homeostasis	cytosol|membrane	selenium binding										ACATCTTTCTCATAGGGAAAG	0.473000														287			22		1.22574e-08	1.34739e-08	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78771994	78771994	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78771994C>T	uc004akc.2	+	10	1884	c.1346C>T	c.(1345-1347)gCa>gTa	p.A449V	PCSK5_uc004ajy.2_Missense_Mutation_p.A449V|PCSK5_uc004ajz.3_Missense_Mutation_p.A449V|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	449	Catalytic.				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						CTGATGGACGCAGAAGCCATG	0.507000														170			40		0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20414346G>A	uc003zoe.2	-	4	757	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_uc011lne.1_Silent_p.S134S|MLLT3_uc011lnf.1_Silent_p.S163S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	166	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S166S(8)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527000			T	MLL	ALL									149			9		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22924291	22924291	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22924291G>A	uc001bfx.1	+	10	2178	c.2053G>A	c.(2053-2055)Gcg>Acg	p.A685T		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A685G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTGAGCGAGGCGTCCATCAT	0.662000														207			44		0	0	1	0	0
COMMD3-BMI1	100532731	broad.mit.edu	37	10	22618434	22618434	+	Nonsense_Mutation	SNP	C	A	A	rs140326477		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22618434C>A	uc009xkg.3	+	13	1408	c.1373C>A	c.(1372-1374)tCa>tAa	p.S458*	COMMD3-BMI1_uc001irh.3_Nonsense_Mutation_p.S315*	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	315					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	PcG protein complex|cytoplasm|nucleolus|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	p.S315L(1)									CCTCGAAAATCATCAGTAAAT	0.403000														117			15		0.000422831	0.000435635	1	1	0
FREM2	341640	broad.mit.edu	37	13	39265074	39265074	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39265074T>G	uc001uwv.3	+	0	3902	c.3593T>G	c.(3592-3594)tTt>tGt	p.F1198C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1198					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATGAGAGAATTTATGGTGATG	0.403000														267			68		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219692564	219692564	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219692564G>A	uc002vjb.1	-	6	831	c.812C>T	c.(811-813)aCc>aTc	p.T271I	PRKAG3_uc010zkn.1_Intron|PRKAG3_uc010fvy.1_Missense_Mutation_p.P313S	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	271					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	p.E270E(1)		large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCCCTCCAGGTCTCAATCTT	0.552000														94			10		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122626665	122626665	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122626665C>A	uc021pzt.1	+	8	1524	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_Intron	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	426						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CAGACCTTTCCTTAGATAACA	0.363000														48			6		5.9392e-07	6.36579e-07	1	1	0
SSX7	280658	broad.mit.edu	37	X	52681355	52681355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:52681355G>A	uc004dqx.1	-	3	386	c.227C>T	c.(226-228)gCc>gTc	p.A76V		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	76	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GAGGTCTGTGGCCCCTGTATT	0.507000														193			44		0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75428107	75428107	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428107A>G	uc003kei.1	+	1	666	c.532A>G	c.(532-534)Agt>Ggt	p.S178G		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	178					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGTGTTACCCAGTGCTGAGAC	0.512000														138			39		0	0	1	0	0
ICOSLG	23308	broad.mit.edu	37	21	45657062	45657062	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45657062C>T	uc010gpp.1	-	2	228	c.94G>A	c.(94-96)Gac>Aac	p.D32N	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.D32N|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	32	Ig-like V-type.				B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		AGCTCCACGTCGCTGCCTACC	0.498000														143			15		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129511410	129511410	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129511410G>A	uc021zfb.1	+	10	1633	c.1528G>A	c.(1528-1530)Gat>Aat	p.D510N	LAMA2_uc003qbn.3_Missense_Mutation_p.D510N|LAMA2_uc003qbo.3_Missense_Mutation_p.D510N	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	510	Laminin EGF-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTGCAAGAGGATAATTGGAA	0.433000														68			15		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43005624	43005624	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43005624C>T	uc003otq.3	-	25	5231	c.4899G>A	c.(4897-4899)acG>acA	p.T1633T	CUL7_uc010jyg.3_Silent_p.T912T|CUL7_uc011dvb.2_Silent_p.T1717T|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1633					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGTCTCAGCGTGCCCTTGC	0.627000														53			14		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229999	38229999	+	Silent	SNP	G	A	A	rs142175416	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229999G>A	uc002ohe.3	-	4	1461	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	ZNF573_uc010efs.2_Silent_p.H377H|ZNF573_uc002ohd.3_Silent_p.H462H|ZNF573_uc002ohf.3_Silent_p.H406H|ZNF573_uc002ohg.3_Silent_p.H376H|ZNF573_uc021utv.1_Silent_p.H376H	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTTACCAGTGTGAATATTCT	0.358000														112			30		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461420	70461420	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461420C>T	uc002lkw.3	-	5	855	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K	NETO1_uc002lky.2_Missense_Mutation_p.E191K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	191	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCTTTGCCTTCCTTCATAATT	0.458000														156			27		0	0	1	0	0
ACTR3C	653857	broad.mit.edu	37	7	149983532	149983532	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149983532G>A	uc003wgu.2	-	4	585	c.395C>T	c.(394-396)gCg>gTg	p.A132V	ACTR3C_uc022aps.1_Missense_Mutation_p.A132V	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	132					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										CTGGTTGATCGCATTGATACC	0.418000														182			35		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800714	21800714	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800714C>T	uc002zur.4	+	2	1760	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	HIC2_uc002zus.4_Silent_p.C510C	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	510					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GTTCGGTCTGCGAGAAGACCT	0.642000														170			31		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703873	48703873	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48703873A>C	uc002lfc.4	-	1	1189	c.828T>G	c.(826-828)atT>atG	p.I276M		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	276	KH 1.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TGACAACAAAAATGGGCTCTT	0.413000														89			31		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803648	113803648	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803648G>T	uc001vsx.3	+	7	1341	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	428	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCGCTTCAAGGACACCTACT	0.612000														212			14		9.05144e-12	1.03561e-11	1	1	0
LRRC55	219527	broad.mit.edu	37	11	56949909	56949909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56949909G>A	uc001njl.2	+	0	689	c.542G>A	c.(541-543)gGg>gAg	p.G181E		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	151						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGCCCATGGGCTAGTCCAC	0.612000														103			28		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120360511	120360511	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120360511C>T	uc003edw.3	-	10	1264	c.804G>A	c.(802-804)tgG>tgA	p.W268*	HGD_uc003edv.3_Nonsense_Mutation_p.W127*	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	268					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	p.A267D(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AATTCCCGTGCCAGGCCACAA	0.433000														131			20		0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092543	29092543	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092543G>T	uc002rmm.3	-	0	633	c.601C>A	c.(601-603)Ctg>Atg	p.L201M		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	201							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GAACTCCTCAGTATCTGGCCG	0.468000														278			47		4.01344e-20	4.89264e-20	1	1	0
CASP4	837	broad.mit.edu	37	11	104822727	104822727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104822727G>A	uc001pid.1	-	2	341	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	CASP4_uc001pib.1_Missense_Mutation_p.P34S|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Missense_Mutation_p.P90S|CASP4_uc010ruy.1_Missense_Mutation_p.P90S	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	90	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TCCATATTCGGATGAGCTGCA	0.443000														82			16		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799653	99799653	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799653C>A	uc010msi.3	-	3	484	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	CTSL2_uc004awt.3_Missense_Mutation_p.G93C|CTSL2_uc004awu.3_Missense_Mutation_p.G38C|CTSL2_uc010msj.2_Missense_Mutation_p.G38C|CTSL2_uc010msk.3_Missense_Mutation_p.G38C	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	93						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				CGAAAGCAACCCATCATCTGC	0.413000														131			28		1.7881e-09	1.98839e-09	1	1	0
TNXB	7148	broad.mit.edu	37	6	32016159	32016159	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016159G>A	uc003nzl.2	-	28	10222	c.10020C>T	c.(10018-10020)gtC>gtT	p.V3340V	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3387	Fibronectin type-III 25.				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						CCTCCACAGGGACTGGGCCGT	0.667000														85			20		0	0	1	0	0
IL7	3574	broad.mit.edu	37	8	79652256	79652256	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79652256T>C	uc003ybg.3	-	2	810	c.209A>G	c.(208-210)cAt>cGt	p.H70R	IL7_uc022awh.1_Missense_Mutation_p.H70R|IL7_uc022awi.1_Missense_Mutation_p.H70R|IL7_uc022awj.1_Missense_Mutation_p.H70R|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	70					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						ATCACAGATATGTCTTTTAAA	0.274000														21			10		0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3713514	3713514	+	Missense_Mutation	SNP	C	T	T	rs141361125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3713514C>T	uc002cvt.4	-	13	1708	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H	TRAP1_uc002cvs.3_Missense_Mutation_p.R331H|TRAP1_uc010uxf.2_Missense_Mutation_p.R487H|BC095475_uc002cvu.3_Non-coding_Transcript	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	540					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GTCAAACTCACGAAGGTGCAG	0.567000														189			21		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108013842	108013842	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108013842C>A	uc001tmk.1	+	10	3053	c.2532C>A	c.(2530-2532)tgC>tgA	p.C844*	BTBD11_uc009zut.1_Nonsense_Mutation_p.C725*|BTBD11_uc001tmj.3_Nonsense_Mutation_p.C844*|BTBD11_uc001tml.1_Nonsense_Mutation_p.C381*	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	844						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						TCATCCAGTGCTTGTTAAAGG	0.582000														73			39		9.73076e-26	1.21367e-25	1	1	0
MSH2	4436	broad.mit.edu	37	2	47693796	47693796	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47693796G>T	uc002rvy.1	+	10	1579	c.1511_splice	c.e10-1	p.G504_splice	MSH2_uc010yoh.1_Splice_Site_p.G438_splice|MSH2_uc002rvz.3_Splice_Site_p.G504_splice|MSH2_uc010fbg.2_Splice_Site_p.G314_splice|MSH2_uc010fbh.1_Splice_Site|MSH2_uc010fbi.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	Homo sapiens mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli) (MSH2), mRNA.	504					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATTATCAAGGCTTGGACCC	0.308000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					69			18		0.000566183	0.000582251	1	1	0
PLA2G6	8398	broad.mit.edu	37	22	38512102	38512102	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38512102C>A	uc003auy.1	-	12	1995	c.1859G>T	c.(1858-1860)aGg>aTg	p.R620M	PLA2G6_uc003auz.1_Missense_Mutation_p.R566M|PLA2G6_uc003ava.1_Missense_Mutation_p.R620M|PLA2G6_uc003avb.2_Missense_Mutation_p.R566M|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc003aux.1_5'Flank	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	620					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	AGCTGGAGGCCTGAGGTTAAC	0.582000														119			23		7.92952e-12	9.07913e-12	1	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130288972	130288972	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130288972G>A	uc001qgg.4	-	1	1294	c.936C>T	c.(934-936)gaC>gaT	p.D312D		NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	312	Peptidase M12B.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GGATGGCCGTGTCGTAGTGCT	0.637000														355			85		0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50161056	50161056	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50161056G>A	uc002poq.3	+	9	3781	c.3657G>A	c.(3655-3657)gaG>gaA	p.E1219E	Mir_324_uc021uxt.1_5'Flank	NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1219	Necessary for interaction with the CTD domain of POLR2A.				RNA splicing|mRNA processing	nucleus	RNA binding	p.E1219K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGGCGGTGGAGGAGGTGAAGC	0.597000														28			5		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20290821	20290821	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20290821C>T	uc001iqg.1	+	1	867	c.230C>T	c.(229-231)aCg>aTg	p.T77M	PLXDC2_uc001iqh.1_Missense_Mutation_p.T77M	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	77						integral to membrane		p.T77A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GCGGTAGACACGAACCGAGCA	0.537000														73			17		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28573951	28573951	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28573951G>T	uc003xgz.1	+	2	968	c.375G>T	c.(373-375)aaG>aaT	p.K125N		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	125						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		AGAACGCCAAGCAGGACCTGC	0.567000														79			15		1.49906e-05	1.573e-05	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24880606	24880606	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880606A>C	uc001isb.2	-	22	4496	c.4009T>G	c.(4009-4011)Tgg>Ggg	p.W1337G	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1336	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGAAAAACCAGTCATGCTAA	0.373000														109			20		0	0	1	0	0
CRYGD	1421	broad.mit.edu	37	2	208986578	208986578	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208986578C>T	uc002vcn.4	-	2	460	c.344G>A	c.(343-345)cGc>cAc	p.R115H	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.R115H	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	115	Beta/gamma crystallin 'Greek key' 3.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens	p.R115S(1)		breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAAGCGGAAGCGGTCCTGAAG	0.562000														186			38		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131671	21131671	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131671C>A	uc002npg.4	+	3	499	c.351C>A	c.(349-351)ggC>ggA	p.G117G	ZNF85_uc010ecn.3_Silent_p.G52G|ZNF85_uc010eco.3_Silent_p.G65G|ZNF85_uc002npi.3_Silent_p.G58G	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	117						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						TAAGAAAAGGCTGTGAAAGTA	0.353000														81			15		7.93312e-07	8.47869e-07	1	1	0
RDH16	8608	broad.mit.edu	37	12	57351092	57351092	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57351092C>T	uc001smi.4	-	0	327	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	RDH16_uc009zpa.3_5'UTR	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	52					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						CCGCAAGCCTCGTGCATCCAG	0.602000														172			48		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10748582	10748582	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10748582C>T	uc002mpf.3	+	17	1885	c.1746C>T	c.(1744-1746)ttC>ttT	p.F582F	SLC44A2_uc002mpe.4_Silent_p.F580F|SLC44A2_uc002mpg.1_Silent_p.F302F|SLC44A2_uc002mph.3_Silent_p.F131F|SLC44A2_uc002mpi.3_5'UTR	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	582					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGCCTTCTTCCTGCTCATGA	0.572000														244			26		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915651	202915651	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202915651G>A	uc001gyq.4	-	3	613	c.346C>T	c.(346-348)Cct>Tct	p.P116S	ADIPOR1_uc010pqd.2_Missense_Mutation_p.P40S|ADIPOR1_uc001gyr.4_Silent_p.D4D|ADIPOR1_uc001gys.4_Missense_Mutation_p.P116S	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	116					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGCATGGGAGGTCTATGACCA	0.502000														116			46		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927550	34927550	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34927550G>A	uc002yse.1	+	2	6062	c.6013G>A	c.(6013-6015)Gta>Ata	p.V2005I	SON_uc002ysb.1_Missense_Mutation_p.V2005I|SON_uc002ysc.3_Missense_Mutation_p.V2005I|SON_uc002ysd.3_Missense_Mutation_p.V996I|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.V996I	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	2005	2 X 19 AA repeats of P-S-R-R-R-R-S-R-S-V- V-R-R-R-S-F-S-I-S.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AAGGTCTGTGGTAAGAAGACG	0.597000														118			33		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67299780	67299780	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67299780T>C	uc001dcx.3	-	11	1841	c.1785A>G	c.(1783-1785)gaA>gaG	p.E595E	WDR78_uc009waw.3_Silent_p.E341E|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	595										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTCGATCTTGTTCTATCCACT	0.333000														38			6		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31930327	31930327	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930327G>T	uc003nyn.1	+	10	1565	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D	SKIV2L_uc011dou.1_Missense_Mutation_p.E234D|SKIV2L_uc011dov.1_Missense_Mutation_p.E199D	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	392	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATCCGGAGGCCTCCTGCC	0.572000														110			24		7.88262e-20	9.60081e-20	1	1	0
PRSS16	10279	broad.mit.edu	37	6	27222622	27222622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222622C>T	uc003nja.3	+	9	1316	c.1301C>T	c.(1300-1302)cCt>cTt	p.P434L	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.P177L|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	434					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.P434A(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGCCAGACCCCTGGGGCTAAC	0.557000														223			46		0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219538400	219538400	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219538400G>T	uc002viu.3	+	2	416	c.137G>T	c.(136-138)aGg>aTg	p.R46M	STK36_uc002viv.3_Missense_Mutation_p.R46M|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	46	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGAGCTGAGGAATTTGCAA	0.463000														65			19		1.67942e-08	1.84125e-08	1	1	0
WWTR1	25937	broad.mit.edu	37	3	149245659	149245659	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149245659G>A	uc003exf.3	-	4	1209	c.869C>T	c.(868-870)tCc>tTc	p.S290F	WWTR1_uc003exe.3_Missense_Mutation_p.S290F|WWTR1_uc021xfm.1_Missense_Mutation_p.S290F|WWTR1_uc003exh.3_Missense_Mutation_p.S290F	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	290					hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	p.S290S(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			ATTAGTGATGGATCTCATGTC	0.453000			T	CAMTA1	epitheliod hemangioendothelioma									335			15		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113239108	113239108	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113239108G>A	uc001eck.3	+	12	2203	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.D645N|MOV10_uc001ecm.3_Missense_Mutation_p.D585N|MOV10_uc009wgj.1_3'UTR	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	645					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CATCTTCATCGATGAGGCTGG	0.572000														163			20		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141416030	141416030	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141416030C>T	uc003vwn.2	+	2	954	c.548C>T	c.(547-549)gCt>gTt	p.A183V	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	183					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGTGAGGAAGCTGGTCCAGAG	0.393000														161			28		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180794394	180794394	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180794394G>A	uc001goi.3	+	8	1240	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	XPR1_uc009wxm.2_Missense_Mutation_p.A350T|XPR1_uc009wxn.3_Missense_Mutation_p.A350T	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	350						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GTATCCACTTGCCCTTTATGG	0.433000														169			46		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678182	25678182	+	Silent	SNP	G	A	A	rs141191689	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678182G>A	uc003grr.3	+	12	1965	c.1884G>A	c.(1882-1884)gcG>gcA	p.A628A	SLC34A2_uc003grs.3_Silent_p.A627A|SLC34A2_uc010iev.3_Silent_p.A627A	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	628	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				gctgccgcgcgtgctgcttgc	0.657000			T	ROS1	NSCLC									122			27		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132394520	132394520	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132394520G>A	uc001uje.3	+	9	1050	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	261	Protein kinase.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTACTGCAACGCAACCACAAG	0.687000														85			14		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94124474	94124474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:94124474C>T	uc003poe.3	-	1	350	c.109G>A	c.(109-111)Gat>Aat	p.D37N	EPHA7_uc003pof.3_Missense_Mutation_p.D37N|EPHA7_uc011eac.2_Missense_Mutation_p.D37N|EPHA7_uc003pog.4_Missense_Mutation_p.D37N	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	37						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTTTAGAATCCAGCAGTAGT	0.318000														48			5		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87373312	87373312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87373312C>T	uc001kdl.1	-	14	2554	c.2453G>A	c.(2452-2454)aGc>aAc	p.S818N	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.S389N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	818						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.A817S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGCCTGGGCGCTGGCATGGCT	0.647000										Multiple Myeloma(13;0.14)				202			42		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056565	153056565	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153056565G>A	uc011dcy.2	+	6	930	c.903G>A	c.(901-903)gcG>gcA	p.A301A	GRIA1_uc003lva.4_Silent_p.A291A|GRIA1_uc003luy.4_Silent_p.A291A|GRIA1_uc003luz.4_Silent_p.A196A|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.A211A|GRIA1_uc011dcx.2_Silent_p.A222A|GRIA1_uc011dcz.2_Silent_p.A301A|GRIA1_uc010jia.1_Silent_p.A271A	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	291					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACACCTCTGCGCTCACCTACG	0.527000														83			20		0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36624001	36624001	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36624001G>T	uc011amm.2	-	5	842	c.799C>A	c.(799-801)Ctg>Atg	p.L267M	APOL2_uc003aoz.3_Missense_Mutation_p.L155M|APOL2_uc003apa.3_Missense_Mutation_p.L155M	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	155					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCTGCTCCCAGACCCATGCCA	0.572000														111			10		0.00829132	0.00840732	1	1	0
WNT5A	7474	broad.mit.edu	37	3	55508452	55508452	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55508452G>T	uc003dhn.3	-	3	915	c.597C>A	c.(595-597)gcC>gcA	p.A199A	WNT5A_uc003dhm.3_Silent_p.A184A|WNT5A_uc010hmw.3_Silent_p.A184A|WNT5A_uc010hmx.3_Silent_p.A110A	NM_003392	NP_003383	P41221	WNT5A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5A (WNT5A), transcript variant 1, mRNA.	199					Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of BMP signaling pathway|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell chemotaxis|positive regulation of angiogenesis|positive regulation of cGMP metabolic process|positive regulation of cartilage development|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CCCGCTCGCGGGCGTCCACGA	0.687000														50			8		0.00307968	0.00313564	1	1	0
ATG4D	84971	broad.mit.edu	37	19	10657740	10657740	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10657740G>A	uc002mov.3	+	3	839	c.719G>A	c.(718-720)gGc>gAc	p.G240D	ATG4D_uc010xlg.2_Missense_Mutation_p.G263D|ATG4D_uc010xlh.2_Missense_Mutation_p.G177D|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	240					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CAGAGCTCAGGCAAGAAGGCA	0.657000														22			6		0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153029	5153029	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5153029G>A	uc010qyx.2	-	0	844	c.844C>T	c.(844-846)Ctt>Ttt	p.L282F		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACAGGTAAAGATTTGACAAG	0.383000														82			14		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117420533	117420533	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117420533A>T	uc003vjf.3	-	6	2577	c.2485T>A	c.(2485-2487)Ttg>Atg	p.L829M		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	829										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)		GCTTCCAACAAGAGTTTAATA	0.343000														117			28		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21134834	21134834	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21134834T>C	uc002kum.4	-	8	1715	c.1441A>G	c.(1441-1443)Att>Gtt	p.I481V	NPC1_uc010xaz.2_Missense_Mutation_p.I282V|NPC1_uc010xba.1_Missense_Mutation_p.I326V	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	481					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ACACTCAAAATGGTGCAGTTC	0.448000														61			15		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78335544	78335544	+	Missense_Mutation	SNP	G	T	T	rs146910347		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78335544G>T	uc002jyh.2	+	39	11501	c.11358G>T	c.(11356-11358)aaG>aaT	p.K3786N	RNF213_uc021uen.1_Missense_Mutation_p.K3737N|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACTGCCCAAGAAGTTCGTGG	0.577000														108			20		1.01871e-10	1.15017e-10	1	1	0
MEN1	4221	broad.mit.edu	37	11	64573758	64573758	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64573758C>T	uc001obj.3	-	6	1083	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_uc001obk.3_Missense_Mutation_p.R337H|MEN1_uc001obl.3_Missense_Mutation_p.R297H|MEN1_uc001obm.3_Missense_Mutation_p.R332H|MEN1_uc001obn.3_Missense_Mutation_p.R337H|MEN1_uc001obo.3_Missense_Mutation_p.R337H|MEN1_uc001obq.3_Missense_Mutation_p.R337H|MEN1_uc001obr.3_Missense_Mutation_p.R337H	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	337	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		258			73		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57077468	57077468	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57077468T>C	uc021tiu.1	+	18	3282	c.3155T>C	c.(3154-3156)tTg>tCg	p.L1052S	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.L857S|NLRC5_uc021tiw.1_Missense_Mutation_p.L857S|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_5'Flank	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1052					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)				GTGTTGGGTTTGGTTCGGTGC	0.602000														400			95		0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78165181	78165181	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78165181C>T	uc002jxw.1	+	7	1343	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Silent_p.D383D|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Silent_p.D146D|CARD14_uc010dhu.1_Silent_p.D181D	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	383					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGAGAAGGACTCCCTCCGCA	0.652000														183			49		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	734755	734755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:734755G>A	uc002ciz.1	-	8	3112	c.2352C>T	c.(2350-2352)ggC>ggT	p.G784G	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	914										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CGCAGAGGTGGCCGCAGCCTG	0.697000														22			8		0	0	1	0	0
SLU7	10569	broad.mit.edu	37	5	159835352	159835352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159835352C>T	uc003lyg.3	-	7	958	c.803G>A	c.(802-804)cGa>cAa	p.R268Q		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	268					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AATATCTTCTCGAATCCTGAG	0.368000														70			15		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169292909	169292909	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169292909G>T	uc021xuh.1	-	34	4892	c.4782C>A	c.(4780-4782)atC>atA	p.I1594I	DDX60L_uc003irq.4_Silent_p.I1594I	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1594							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTGTGCGCAGGATGACCTGAA	0.408000														25			5		0.0215528	0.0217347	1	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175206	143175206	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175206G>A	uc003wdc.1	+	0	241	c.241G>A	c.(241-243)Ggc>Agc	p.G81S	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	81					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGGGGGTCTCGGCCGACAGTT	0.542000														141			31		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554395	150554395	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554395G>A	uc003why.1	+	2	5055	c.837G>A	c.(835-837)ccG>ccA	p.P279P	ABP1_uc003whz.1_Silent_p.P279P|ABP1_uc003wia.1_Silent_p.P279P	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	279					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CAGAGGAGCCGCCCCTCTTCT	0.682000														51			12		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48056061	48056061	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48056061C>T	uc010bek.3	+	9	1122	c.762C>T	c.(760-762)cgC>cgT	p.R254R	SEMA6D_uc001zvw.3_Silent_p.R254R|SEMA6D_uc001zvx.1_Silent_p.R254R|SEMA6D_uc001zvy.3_Silent_p.R254R|SEMA6D_uc001zvz.3_Silent_p.R254R|SEMA6D_uc001zwa.3_Silent_p.R254R|SEMA6D_uc001zwb.3_Silent_p.R254R|SEMA6D_uc001zwc.3_Silent_p.R254R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	254	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTATTCCCGCGTGGCCCGCA	0.493000														204			48		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74154560	74154560	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74154560C>T	uc002jqz.3	-	12	1396	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M	RNF157_uc002jra.3_Missense_Mutation_p.V443M	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	443	Ser-rich.						zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			TCATGCAGCACGGAAGAGTTT	0.502000														108			18		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219602698	219602698	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602698G>A	uc002viy.3	+	2	669	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TTLL4_uc010zkl.1_5'UTR|TTLL4_uc010fvx.3_Missense_Mutation_p.S100N	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	100					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCAGGCCACAGCAGTTCCTGT	0.562000														225			89		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3006594	3006594	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3006594C>T	uc010dth.3	-	14	1590	c.1327G>A	c.(1327-1329)Gcg>Acg	p.A443T	TLE2_uc010xhb.2_Missense_Mutation_p.A109T|TLE2_uc002lww.3_Missense_Mutation_p.A442T|TLE2_uc010xhc.2_Missense_Mutation_p.A320T|TLE2_uc010dti.3_Missense_Mutation_p.A456T|TLE2_uc010xhd.1_Missense_Mutation_p.A350T	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	442					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCCCGCGCCTACCAGT	0.682000														41			11		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668976	53668976	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668976T>C	uc010eqm.1	-	3	867	c.767A>G	c.(766-768)cAt>cGt	p.H256R		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CTCTCCAGTATGAATTCTCTG	0.398000														193			10		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631862	67631862	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67631862C>T	uc002sdz.1	+	4	2187	c.2048C>T	c.(2047-2049)tCt>tTt	p.S683F		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	683						cytoplasm|nucleus		p.S683T(1)		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						TTTGCTATATCTAAACAAGGA	0.353000														104			20		0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23028930	23028930	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028930G>T	uc002wss.3	-	0	1372	c.1212C>A	c.(1210-1212)tgC>tgA	p.C404*	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Nonsense_Mutation_p.C345*	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	404	EGF-like 4.|EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	AAAACATCTGGCACCTGTGCG	0.617000														183			43		3.43241e-23	4.24696e-23	1	1	0
SLC10A6	345274	broad.mit.edu	37	4	87752952	87752952	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87752952A>C	uc003hqd.2	-	2	726	c.578T>G	c.(577-579)aTt>aGt	p.I193S		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	193						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CACCTTGAGAATGATTTTGGA	0.473000														33			8		0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17610570	17610570	+	Missense_Mutation	SNP	G	A	A	rs147114989		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17610570G>A	uc002wpw.1	-	8	1625	c.1348C>T	c.(1348-1350)Cgc>Tgc	p.R450C	RRBP1_uc002wpu.3_Missense_Mutation_p.R224C|RRBP1_uc010gcl.1_Missense_Mutation_p.R224C|RRBP1_uc002wpv.1_Missense_Mutation_p.R450C|RRBP1_uc010gcm.1_Silent_p.S35S	NM_004587	NP_004578	Q9P2E9	RRBP1_HUMAN	Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA.	883	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TCGTCCAGGCGCTTCTGCAGG	0.697000														78			19		0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81241240	81241240	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81241240C>A	uc002bfw.1	+	28	4321	c.4061C>A	c.(4060-4062)cCt>cAt	p.P1354H	KIAA1199_uc010unn.1_Missense_Mutation_p.P1354H|MESDC2_uc002bfx.3_Intron|MESDC2_uc010uno.2_Intron|KIAA1199_uc021sse.1_5'Flank	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	1354										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGCCCATCCCTGTGGTGAAG	0.557000														289			54		2.29192e-23	2.83726e-23	1	1	0
NKD1	85407	broad.mit.edu	37	16	50667286	50667286	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50667286G>A	uc002egg.2	+	9	1231	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	336					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	p.R336W(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CAACGGCTCCGGGGCACCCAG	0.642000														233			48		0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658887	52658887	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658887T>C	uc010ydj.2	-	4	2571	c.2049A>G	c.(2047-2049)aaA>aaG	p.K683K	ZNF836_uc010ydi.2_Silent_p.K683K	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	683					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTATCAGATGTTTAGTGAGGC	0.388000														116			30		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492614	56492614	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56492614G>T	uc001sjh.3	+	22	3040	c.2764G>T	c.(2764-2766)Gac>Tac	p.D922Y	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.D279Y|ERBB3_uc010sqc.2_Missense_Mutation_p.D863Y|ERBB3_uc009zok.3_Missense_Mutation_p.D187Y|ERBB3_uc001sjk.3_Missense_Mutation_p.D163Y|ERBB3_uc001sjl.3_Missense_Mutation_p.D42Y	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	922	Protein kinase.				Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGAAGTACCAGACCTGCTAGA	0.537000														177			34		1.45844e-13	1.7027e-13	1	1	0
GLT1D1	144423	broad.mit.edu	37	12	129360481	129360481	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129360481C>T	uc010tbh.1	+	1	67	c.58C>T	c.(58-60)Cac>Tac	p.H20Y	GLT1D1_uc001uhx.1_Missense_Mutation_p.H31Y|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	31					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GGCTGCAGGGCACGTGTGCGT	0.463000														216			51		0	0	1	0	0
ABLIM3	22885	broad.mit.edu	37	5	148637959	148637959	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148637959C>T	uc003lpy.2	+	23	2295	c.2044C>T	c.(2044-2046)Ctg>Ttg	p.L682L	ABLIM3_uc003lpz.1_Silent_p.L682L|ABLIM3_uc003lqa.1_Silent_p.L579L|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.L649L|ABLIM3_uc003lqd.1_Silent_p.L587L|ABLIM3_uc003lqe.1_Silent_p.L571L|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	682	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAAGCCCGGCTGTTCTAGGC	0.438000														85			28		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28377840	28377840	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28377840G>T	uc001zbj.3	-	79	12473	c.12367C>A	c.(12367-12369)Ctg>Atg	p.L4123M		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4123					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGTGCCCCAGCCGGCCGTAG	0.647000														198			53		1.22102e-19	1.48475e-19	1	1	0
DDN	23109	broad.mit.edu	37	12	49392084	49392084	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49392084G>A	uc001rsv.1	-	1	593	c.575C>T	c.(574-576)cCc>cTc	p.P192L		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	192	Interaction with MAGI2.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCTCCCCAGGGCCCCGCCCA	0.781000														44			15		0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22487118	22487118	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22487118C>T	uc001rfo.4	-	0	531	c.49G>A	c.(49-51)Gct>Act	p.A17T	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	17					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCCAGTACAGCCATGGCCCCT	0.701000														193			45		0	0	1	0	0
OR10T2	128360	broad.mit.edu	37	1	158368954	158368954	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158368954C>T	uc010pih.2	-	0	303	c.303G>A	c.(301-303)caG>caA	p.Q101Q		NM_001004475	NP_001004475	Q8NGX3	O10T2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily T, member 2 (OR10T2), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AAAAGAACAGCTGGGTGGCAC	0.502000														103			10		0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64895881	64895881	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64895881C>T	uc001odb.3	-	15	1921	c.1827G>A	c.(1825-1827)caG>caA	p.Q609Q	SYVN1_uc001odc.3_Silent_p.Q608Q|SYVN1_uc009yqc.3_Silent_p.Q557Q	NM_172230	NP_757385	Q86TM6	SYVN1_HUMAN	Homo sapiens synovial apoptosis inhibitor 1, synoviolin (SYVN1), transcript variant 2, mRNA.	609					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ACTCCAGCTTCTGCAGGCGGC	0.637000														62			11		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848296	56848296	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56848296C>T	uc001slh.3	-	0	140	c.102G>A	c.(100-102)tgG>tgA	p.W34*		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	34					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GTCCAGGAGCCCAGCGCAGTG	0.582000														165			28		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105924245	105924245	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105924245C>T	uc002tcq.3	-	1	598	c.514G>A	c.(514-516)Gct>Act	p.A172T	TGFBRAP1_uc002tcr.4_Missense_Mutation_p.A172T	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	172	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ACAGCCACAGCGAGGGGCTGC	0.562000														354			65		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146214385	146214385	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214385C>T	uc003qlf.3	-	27	5239	c.4840G>A	c.(4840-4842)Gcc>Acc	p.A1614T	SHPRH_uc003qle.3_Missense_Mutation_p.A1618T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1614	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTCCCTATGGCCTGAAGCTCA	0.438000														57			14		0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7962940	7962940	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7962940G>T	uc002wmx.1	-	7	1141	c.1008C>A	c.(1006-1008)tcC>tcA	p.S336S		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	336					cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GCTGCCTCAAGGAGTCTTCCA	0.512000														117			18		1.33834e-09	1.48855e-09	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58639933	58639933	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639933T>G	uc002qrn.3	-	3	1175	c.938A>C	c.(937-939)aAa>aCa	p.K313T	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.K313T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCTATATGGTTTTTCCCCTGT	0.438000														141			36		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965432	9965432	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965432C>T	uc002mmp.3	-	5	823	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	265	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TGCCCGCCCACGGCTGGGGCA	0.582000														64			18		0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222904766	222904766	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222904766C>A	uc001hnq.1	+	11	1452	c.1057C>A	c.(1057-1059)Cct>Act	p.P353T	BROX_uc010put.1_Missense_Mutation_p.P321T|BROX_uc010puu.1_Intron|BROX_uc010puv.1_Missense_Mutation_p.P321T|AK094916_uc001hnr.1_Intron|AK025140_uc001hns.1_5'Flank	NM_144695	NP_653296	Q5VW32	BROX_HUMAN	Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA.	353	BRO1.					membrane		p.E352E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						TCTCGTAGAGCCTATACCTTT	0.388000														114			40		4.32679e-17	5.18309e-17	1	1	0
GPCPD1	56261	broad.mit.edu	37	20	5539456	5539456	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5539456T>C	uc002wme.4	-	17	1755	c.1542A>G	c.(1540-1542)caA>caG	p.Q514Q	GPCPD1_uc002wmd.4_Silent_p.Q333Q	NM_019593	NP_062539	Q9NPB8	GPCP1_HUMAN	Homo sapiens glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae) (GPCPD1), mRNA.	514	GDPD.				glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						TGTTCTGCTTTTGCCGAACCC	0.348000														28			10		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140640600	140640600	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140640600G>A	uc021xsg.1	-	4	4046	c.3294C>T	c.(3292-3294)ggC>ggT	p.G1098G	MGST2_uc021xsf.1_Intron|MGST2_uc010ioi.1_Intron|MAML3_uc011chd.1_Silent_p.G561G	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	1094					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					CAGCTCCGTCGCCACTGTAAT	0.607000														130			19		0	0	1	0	0
IMPDH2	3615	broad.mit.edu	37	3	49065268	49065268	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49065268G>A	uc003cvt.3	-	4	498	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	136	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	AAACCATGCCGGGCCTTGGCC	0.547000														100			28		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93650131	93650131	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93650131T>C	uc004aqz.3	+	11	1887	c.1682T>C	c.(1681-1683)tTg>tCg	p.L561S	SYK_uc004ara.3_Missense_Mutation_p.L538S|SYK_uc004arb.3_Missense_Mutation_p.L538S|SYK_uc004arc.3_Missense_Mutation_p.L561S|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	561	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TTTGGAGTGTTGATGTGGGAA	0.502000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									274			57		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427930	97427930	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427930G>A	uc002swx.3	+	0	1292	c.1194G>A	c.(1192-1194)tcG>tcA	p.S398S		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	398	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane		p.S398S(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ACACCATGTCGGAGATAATGG	0.502000														153			38		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117400555	117400555	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117400555T>G	uc003vjf.3	-	9	3198	c.3106A>C	c.(3106-3108)Act>Cct	p.T1036P		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1036								p.V1035V(1)		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)		TTATTGCAAGTCACGTCTTCC	0.453000														175			33		0	0	1	0	0
BCL2L15	440603	broad.mit.edu	37	1	114429225	114429225	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114429225A>G	uc001edw.3	-	1	355	c.183T>C	c.(181-183)ggT>ggC	p.G61G	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Silent_p.G61G|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Intron	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	61					apoptosis			p.L60F(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAACTGGTCACCCAACATCC	0.448000														76			12		0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52778894	52778894	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52778894C>T	uc003jpd.3	+	1	628	c.270C>T	c.(268-270)ccC>ccT	p.P90P	FST_uc003jpc.3_Silent_p.P90P	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	90	TB.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACTGCATCCCCTGTAAAGGTA	0.577000											OREG0016608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			24		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37440777	37440777	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440777A>G	uc002ofc.3	+	6	1240	c.722A>G	c.(721-723)gAg>gGg	p.E241G	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.E240G|ZNF568_uc002ofd.3_Missense_Mutation_p.E177G|ZNF568_uc010efe.3_Missense_Mutation_p.E177G|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTAGACATGAGCGAATTCAT	0.383000														82			21		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55110988	55110988	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55110988G>T	uc003jqg.4	+	19	2074	c.1975G>T	c.(1975-1977)Gta>Tta	p.V659L	DDX4_uc010ivz.3_Missense_Mutation_p.V639L|DDX4_uc003jqh.4_Missense_Mutation_p.V625L|DDX4_uc003jqj.3_Missense_Mutation_p.V510L	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	659	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TCTAGTAAAAGTATTGACAGA	0.348000														135			32		6.00712e-18	7.23423e-18	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39230603	39230603	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39230603G>A	uc003cjk.2	-	1	563	c.334C>T	c.(334-336)Cca>Tca	p.P112S	XIRP1_uc003cji.3_Missense_Mutation_p.P112S|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.P112S	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TTGGCAGCTGGCCTCTCGTGT	0.597000														160			32		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495173	33495173	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495173G>T	uc002hja.3	+	9	1342	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H	UNC45B_uc002hjb.3_Missense_Mutation_p.Q415H|UNC45B_uc002hjc.3_Missense_Mutation_p.Q415H|UNC45B_uc010cto.3_Missense_Mutation_p.Q415H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	415					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGGCAACCAGCTGCTGGGAC	0.582000														101			21		6.33239e-15	7.46874e-15	1	1	0
NRAS	4893	broad.mit.edu	37	1	115252229	115252229	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115252229G>A	uc009wgu.3	-	3	665	c.411C>T	c.(409-411)taC>taT	p.Y137Y		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	137					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			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)		ATGGAATCCCGTAACTCTTGG	0.448000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)				77			9		0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138669185	138669185	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669185G>A	uc003esx.1	+	2	430	c.299G>A	c.(298-300)cGc>cAc	p.R100H	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	100										large_intestine(1)|lung(3)	4						GGGAAGCGTCGCGGCTGCTCT	0.682000														90			20		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1573949	1573949	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1573949G>A	uc002cmb.3	-	24	3512	c.3150C>T	c.(3148-3150)ggC>ggT	p.G1050G	IFT140_uc002clz.3_Silent_p.G663G	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1050										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTCGTCCAGGCCGTTCTCCT	0.662000														65			25		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49175791	49175791	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49175791C>A	uc001ngy.3	-	15	2138	c.1877G>T	c.(1876-1878)aGt>aTt	p.S626I	FOLH1_uc001ngx.3_Missense_Mutation_p.S58I|FOLH1_uc009yly.3_Missense_Mutation_p.S611I|FOLH1_uc009ylz.3_Missense_Mutation_p.S611I|FOLH1_uc001ngz.3_Missense_Mutation_p.S626I|FOLH1_uc009yma.3_Missense_Mutation_p.S318I	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	626					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAATGATACACTGTATGTCTT	0.323000														95			13		3.27435e-08	3.57295e-08	1	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73922483	73922483	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73922483A>G	uc003uaq.3	+	1	466	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.T25A|GTF2IRD1_uc003uap.3_Missense_Mutation_p.T25A|GTF2IRD1_uc003uar.1_Missense_Mutation_p.T25A	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	25						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCGCGTTCACCCGCAAAGA	0.647000														122			27		0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161575237	161575237	+	Missense_Mutation	SNP	G	A	A	rs143406726		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161575237G>A	uc003qtr.1	-	3	681	c.454C>T	c.(454-456)Cgc>Tgc	p.R152C	AGPAT4_uc003qts.1_Missense_Mutation_p.R12C|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R152C|AGPAT4_uc011egd.1_Missense_Mutation_p.R90C|AGPAT4_uc011ege.1_Missense_Mutation_p.S95L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	152					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		ACCGTCTTGCGATCCTGCTCC	0.562000														144			30		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102343346	102343346	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102343346A>G	uc003knt.3	+	18	2573	c.2200A>G	c.(2200-2202)Att>Gtt	p.I734V	PAM_uc003knw.3_Missense_Mutation_p.I734V|PAM_uc003kns.3_Missense_Mutation_p.I627V|PAM_uc003knu.3_Missense_Mutation_p.I734V|PAM_uc011cuz.2_Missense_Mutation_p.I637V|PAM_uc003knv.3_Missense_Mutation_p.I734V|PAM_uc003knz.3_5'UTR	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	734	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.I734M(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTATTTGCAATTTCATATAT	0.333000														42			19		0	0	1	0	0
MTMR14	64419	broad.mit.edu	37	3	9726291	9726291	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726291C>T	uc003brz.3	+	10	1138	c.987C>T	c.(985-987)caC>caT	p.H329H	MTMR14_uc003bsa.3_Silent_p.H329H|MTMR14_uc003bsb.3_Silent_p.H329H|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Silent_p.H83H|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	329						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TGCTGGTACACTGTATCTCAG	0.582000														181			36		0	0	1	0	0
CDC42EP2	10435	broad.mit.edu	37	11	65088649	65088649	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65088649C>T	uc021qli.1	+	0	280	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CDC42EP2_uc001odl.3_Missense_Mutation_p.R94W	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	94					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						CGTGTGTGGGCGGGAGCTCCC	0.672000														174			21		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1801214	1801214	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1801214C>T	uc003gdr.3	+	2	599	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	FGFR3_uc003gdu.2_Nonsense_Mutation_p.Q115*|FGFR3_uc003gds.3_Nonsense_Mutation_p.Q115*|FGFR3_uc003gdq.3_Nonsense_Mutation_p.Q115*|FGFR3_uc010icb.1_5'Flank|FGFR3_uc003gdt.1_5'Flank	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	115	Ig-like C2-type 1.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GCGGCTCACGCAGCGCGTACT	0.697000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					29			3		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43013726	43013726	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013726C>A	uc010wji.2	-	2	88	c.-13_splice	c.e2-1		KIF18B_uc002iht.3_5'UTR|KIF18B_uc010wjh.2_Splice_Site	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGTGACACCTGGGTGAGA	0.652000														23			6		0.00116845	0.00119477	1	1	0
APH1A	51107	broad.mit.edu	37	1	150240145	150240145	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240145G>A	uc001ety.2	-	2	728	c.329C>T	c.(328-330)tCa>tTa	p.S110L	APH1A_uc001etz.2_Missense_Mutation_p.S110L|APH1A_uc010pbx.2_Intron|APH1A_uc010pby.2_Missense_Mutation_p.S53L|APH1A_uc010pbz.2_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	110					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGAGATGGGTGATCTTCCGTC	0.592000														38			8		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71142486	71142486	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71142486G>A	uc001jpl.4	+	9	1610	c.1509G>A	c.(1507-1509)acG>acA	p.T503T	HK1_uc001jpg.4_Silent_p.T491T|HK1_uc001jph.4_Silent_p.T507T|HK1_uc001jpi.4_Silent_p.T507T|HK1_uc001jpj.4_Silent_p.T538T|HK1_uc001jpk.4_Silent_p.T502T|HK1_uc009xqd.3_Silent_p.T381T	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	503	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	p.T507T(1)|p.T502T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAAGCAGACGCACAACAATG	0.617000														56			12		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215021	84215021	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215021G>T	uc002fhn.3	-	9	1397	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	TAF1C_uc010vnz.2_Silent_p.S53S|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Silent_p.S53S|TAF1C_uc002fhm.3_Silent_p.S292S|TAF1C_uc010vnx.2_Silent_p.S359S|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_3'UTR	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	385					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GCCACGAAGAGGAGTCCCGGA	0.657000														75			15		6.72482e-11	7.60803e-11	1	1	0
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130011402G>A	uc010sby.2	+	15	2126	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	APLP2_uc001qfp.3_Missense_Mutation_p.E645K|APLP2_uc001qfq.3_Missense_Mutation_p.E589K|APLP2_uc010sbz.2_Missense_Mutation_p.E445K|APLP2_uc001qfr.3_Missense_Mutation_p.E411K|APLP2_uc001qfs.3_Missense_Mutation_p.E416K|APLP2_uc021qsg.1_Missense_Mutation_p.E655K|APLP2_uc001qfv.3_Missense_Mutation_p.E548K|APLP2_uc009zcv.3_Missense_Mutation_p.E5K	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	657					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502000														76			14		0	0	1	0	0
KBTBD12	166348	broad.mit.edu	37	3	127646814	127646814	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127646814G>A	uc010hsr.3	+	1	1281	c.1278G>A	c.(1276-1278)ttG>ttA	p.L426L	KBTBD12_uc003ejy.4_Silent_p.L33L|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Silent_p.L426L	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	426										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CACTGCAATTGGCATGTCATG	0.383000														66			17		0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50138873	50138873	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50138873C>A	uc002efw.3	+	14	2106	c.1944C>A	c.(1942-1944)aaC>aaA	p.N648K	HEATR3_uc002efx.3_Missense_Mutation_p.N562K|HEATR3_uc021thw.1_Missense_Mutation_p.N190K|AF086132_uc002efy.3_5'Flank	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	648							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GGAGAGGTAACTATAGCACAG	0.294000														78			5		1	1	1	1	0
TPTE2	93492	broad.mit.edu	37	13	20025342	20025342	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20025342C>A	uc001umd.3	-	11	976	c.765G>T	c.(763-765)aaG>aaT	p.K255N	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.K144N|TPTE2_uc001ume.3_Missense_Mutation_p.K178N|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TTCGATGTTTCTTATCTAGAA	0.363000														79			8		7.48243e-07	8.00842e-07	1	1	0
CCDC64	92558	broad.mit.edu	37	12	120436420	120436420	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120436420G>A	uc001txl.1	+	1	550	c.525G>A	c.(523-525)aaG>aaA	p.K175K	CCDC64_uc001txk.2_Silent_p.K175K|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	175					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGATGTGAAGCAGCTACAGG	0.517000														87			21		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003558	74003558	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003558C>T	uc010wss.1	-	21	6022	c.5794G>A	c.(5794-5796)Gtc>Atc	p.V1932I	EVPL_uc002jqi.2_Missense_Mutation_p.V1910I|EVPL_uc010wst.1_Missense_Mutation_p.V1380I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1910	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TTCTTGGTGACGGGGTCCTCG	0.652000														167			35		0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53010165	53010165	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53010165C>T	uc001sas.3	-	2	483	c.448_splice	c.e2-1	p.V150_splice		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	150	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAACCGCACCTGGAACCCAT	0.507000														130			40		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140672344	140672344	+	Missense_Mutation	SNP	C	T	T	rs137852719		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140672344C>T	uc011mfc.2	+	12	2066	c.2029C>T	c.(2029-2031)Cca>Tca	p.P677S	EHMT1_uc004coa.3_Missense_Mutation_p.P677S|EHMT1_uc004cob.1_Missense_Mutation_p.P646S	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	677					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGCTGCCGGGCCACCACTCTC	0.602000														387			73		0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365164	120365164	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120365164A>G	uc003edw.3	-	8	1059	c.599T>C	c.(598-600)aTc>aCc	p.I200T	HGD_uc003edv.3_Missense_Mutation_p.I59T	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	200					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GACCTCCAAGATGTAGCCCCT	0.478000														114			23		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53746293	53746293	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53746293G>A	uc001cvi.2	-	3	699	c.462C>T	c.(460-462)tgC>tgT	p.C154C	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Silent_p.C154C|LRP8_uc001cvk.2_Silent_p.C154C|LRP8_uc001cvl.2_Silent_p.C154C	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	154	LDL-receptor class A 3.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CTCCACCCTCGCAGTCCTTCT	0.642000														108			25		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48454198	48454198	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48454198G>T	uc003csw.2	-	24	5077	c.4807C>A	c.(4807-4809)Ctg>Atg	p.L1603M	PLXNB1_uc003cst.2_Missense_Mutation_p.L53M|PLXNB1_uc003csu.2_Missense_Mutation_p.L1420M|PLXNB1_uc003csx.2_Missense_Mutation_p.L1603M	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1603					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGCTGCCCCAGCCCTTGCTCC	0.647000														121			21		7.41877e-09	8.17068e-09	1	1	0
KCNJ11	3767	broad.mit.edu	37	11	17408593	17408593	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17408593A>C	uc001mna.3	-	0	1614	c.1046T>G	c.(1045-1047)cTt>cGt	p.L349R	KCNJ11_uc001mnb.4_Missense_Mutation_p.L262R	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	262						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GTCCTCATCAAGCTGGCGGGC	0.627000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		233			25		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46319807	46319807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46319807G>A	uc002pdn.3	-	24	3532	c.3287C>T	c.(3286-3288)aCc>aTc	p.T1096I	RSPH6A_uc002pdm.3_5'Flank	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	1096					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTCCAAGATGGTCATGATGGA	0.657000														89			12		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175068	57175068	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175068G>A	uc010ygn.2	-	1	1726	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AAGGCGTCCCGAACTGTCTGC	0.642000														394			84		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187084635	187084635	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187084635G>A	uc003iyt.4	+	9	1470	c.891G>A	c.(889-891)ccG>ccA	p.P297P	FAM149A_uc011cla.1_Silent_p.P297P|FAM149A_uc010isl.3_Silent_p.P297P|FAM149A_uc011clb.2_Silent_p.P297P	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	588								p.P297L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CCTCCGCACCGCACAGACTGG	0.557000														122			14		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765426	124765426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765426G>A	uc001qbg.3	-	5	1103	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ROBO4_uc010sas.2_Silent_p.F176F|ROBO4_uc001qbh.2_Silent_p.F211F|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	321	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GTCTCACTTTGAACTCGTAGT	0.657000														200			49		0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298366	36298366	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36298366G>A	uc003oly.3	-	1	280	c.102C>T	c.(100-102)tgC>tgT	p.C34C		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	34										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGAGCCAATGGCAGTCCCACG	0.642000														222			53		0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130425614	130425614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130425614C>T	uc004brk.2	+	6	757	c.560C>T	c.(559-561)cCg>cTg	p.P187L	STXBP1_uc004brl.2_Missense_Mutation_p.P187L	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	187					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AAGGAGTACCCGGCTGTGCGG	0.612000														176			31		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5222822	5222822	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5222822G>A	uc002mbv.3	-	17	3215	c.2981C>T	c.(2980-2982)gCg>gTg	p.A994V	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.2_Intron|PTPRS_uc002mbw.3_Missense_Mutation_p.A972V|PTPRS_uc002mbx.3_Intron|PTPRS_uc002mby.3_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	994	Fibronectin type-III 7.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		CAGCGTGAGCGCGTTCTCCGC	0.731000														102			23		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140969366	140969366	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140969366G>A	uc011mwp.2	+	3	693	c.693G>A	c.(691-693)gaG>gaA	p.E231E		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	231	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCCGTGAGTTCATAGAGA	0.443000														203			49		0	0	1	0	0
CD274	29126	broad.mit.edu	37	9	5467858	5467858	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5467858C>T	uc003zje.3	+	6	977	c.869C>T	c.(868-870)aCg>aTg	p.T290M	PLGRKT_uc003zjd.3_Intron|CD274_uc010mhn.3_Non-coding_Transcript|CD274_uc003zjf.3_Missense_Mutation_p.T176M	NM_014143	NP_054862	Q9NZQ7	PD1L1_HUMAN	Homo sapiens CD274 molecule (CD274), mRNA.	290					T cell costimulation|cell proliferation|cell surface receptor linked signaling pathway|immune response	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		TTGGAGGAGACGTAATCCAGC	0.423000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									68			11		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31599424	31599424	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31599424G>A	uc003nvb.4	+	15	3223	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.G992R	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	992	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GGGGAAGCTAGGGGGCCCCAA	0.572000														53			19		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94545647	94545647	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94545647C>T	uc001ycj.3	-	1	541	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	DDX24_uc010twq.2_Missense_Mutation_p.V105I|DDX24_uc010twr.2_Intron|IFI27L1_uc001ycl.3_5'Flank|IFI27L1_uc001yck.3_5'Flank	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	148					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCAGTTTGGACCAGGTTTTCT	0.473000														230			14		0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38065249	38065249	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38065249C>T	uc010cwj.3	-	4	754	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	GSDMB_uc010cwi.3_5'Flank|GSDMB_uc010cwl.3_Intron|GSDMB_uc010cwm.3_Intron|GSDMB_uc010cwk.3_Intron|GSDMB_uc002htg.3_Missense_Mutation_p.R208Q|GSDMB_uc002hth.3_Missense_Mutation_p.R208Q|GSDMB_uc010wem.2_Missense_Mutation_p.R208Q	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	208						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CTGCTTTACTCGATAGCTCAG	0.522000														255			58		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113660146	113660146	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113660146G>T	uc001pof.1	+	0		c.194G>T								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GGACCATCAAGTACCTGCAGC	0.607000														85			20		8.00594e-06	8.44607e-06	1	1	0
SLC2A9	56606	broad.mit.edu	37	4	9998463	9998463	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9998463C>T	uc003gmc.3	-	2	413	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	SLC2A9_uc003gmd.3_Missense_Mutation_p.A89T	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	118					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCACCGATGGCGAATATGGAC	0.498000														123			26		0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911111	29911111	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911111A>G	uc003nol.3	+	2	494	c.410A>G	c.(409-411)tAc>tGc	p.Y137C	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Non-coding_Transcript|HLA-A_uc021ytz.1_Missense_Mutation_p.Y137C|HLA-A_uc010jrq.3_Missense_Mutation_p.Y16C|HLA-A_uc003nok.3_Missense_Mutation_p.Y16C|HLA-A_uc021yua.1_3'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Y109C|HLA-A_uc011dmc.2_Missense_Mutation_p.Y16C|HLA-A_uc011dmd.2_Missense_Mutation_p.Y16C|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	137	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CTCCGCGGGTACCGGCAGGAC	0.667000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				108			17		0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39583458	39583458	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39583458C>A	uc002rro.3	-	2	268	c.177G>T	c.(175-177)caG>caT	p.Q59H	MAP4K3_uc002rrp.3_Missense_Mutation_p.Q59H	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	59	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TAATTTCTTGCTGCACAACTG	0.303000														113			16		6.94344e-10	7.75807e-10	1	1	0
CRHR2	1395	broad.mit.edu	37	7	30693138	30693138	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30693138A>G	uc003tbn.3	-	11	1419	c.1174T>C	c.(1174-1176)Tcc>Ccc	p.S392P	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.S391P|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.S228P|CRHR2_uc003tbo.3_Missense_Mutation_p.S378P|CRHR2_uc003tbp.3_Missense_Mutation_p.S419P	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	392					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTAGGGATGGACATGGCCCGG	0.652000														263			64		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55623837	55623837	+	Missense_Mutation	SNP	C	T	T	rs143271686	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55623837C>T	uc002qix.3	-	2	585	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	PPP1R12C_uc010yfs.2_Missense_Mutation_p.R116Q|PPP1R12C_uc002qiy.3_Missense_Mutation_p.R190Q	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	190						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GAGCCCACCTCGGCGGGCGAT	0.697000														57			19		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816924	1816924	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1816924C>A	uc010uvl.2	+	24	3160	c.3040C>A	c.(3040-3042)Ctg>Atg	p.L1014M	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.L1013M|MAPK8IP3_uc002cml.3_Missense_Mutation_p.L1003M|MAPK8IP3_uc021tah.1_Missense_Mutation_p.L1007M	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1013					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGGCCGTGTGCTGGTGGCTCT	0.697000														209			40		2.40228e-13	2.79845e-13	1	1	0
LIX1	167410	broad.mit.edu	37	5	96430577	96430577	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96430577G>A	uc003kmy.4	-	5	964	c.724C>T	c.(724-726)Cta>Tta	p.L242L		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	242								p.E241*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		TAAAACCGTAGTTCTTGTCCT	0.498000														172			34		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72032277	72032277	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72032277G>A	uc001swo.2	-	6	2005	c.1646C>T	c.(1645-1647)cCg>cTg	p.P549L		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	549	Pro-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAAAATGGCGGTTGCACTGG	0.343000														21			8		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44611810	44611810	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44611810G>T	uc003cnj.3	+	5	1624	c.1208G>T	c.(1207-1209)aGa>aTa	p.R403I	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.R403I|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.R252I	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	403					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		GGCCATCAGAGAATCCACACT	0.458000														157			20		8.00594e-06	8.44607e-06	1	1	0
FAM13B	51306	broad.mit.edu	37	5	137289150	137289150	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137289150G>A	uc003lbz.2	-	14	2191	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	FAM13B_uc003lcb.2_Nonsense_Mutation_p.R457*|FAM13B_uc003lca.2_Nonsense_Mutation_p.R553*	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	553					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GATGATCTTCGAATTCTGAAT	0.353000														79			10		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34832959	34832959	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34832959C>T	uc002nvd.4	+	9	2979	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	707								p.A707T(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CAGGCTGGGGCACACACACCT	0.632000														233			67		0	0	1	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213501	28213501	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213501C>T	uc003nks.1	-	4	1275	c.1031G>A	c.(1030-1032)gGt>gAt	p.G344D	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.G189D	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	344					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTTCTCACCAGTGTGGAT	0.458000														111			31		0	0	1	0	0
ACADS	35	broad.mit.edu	37	12	121175748	121175748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121175748C>T	uc001tza.4	+	4	699	c.581C>T	c.(580-582)gCt>gTt	p.A194V	ACADS_uc010szl.1_Intron	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	194						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GAGGCTTCGGCTGCCGTGGTC	0.617000														166			36		0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6309846	6309846	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6309846C>A	uc002mel.2	-	4	429	c.351_splice	c.e4-1	p.R117_splice		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	117						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAACTGGGACCTGGGGAGGAA	0.612000														96			16		3.45872e-05	3.61362e-05	1	1	0
WDR78	79819	broad.mit.edu	37	1	67301382	67301382	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67301382C>T	uc001dcx.3	-	10	1716	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363000														79			18		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4609488	4609488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4609488C>T	uc001qms.3	-	10	1344	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	C12orf4_uc001qmt.3_Missense_Mutation_p.R419Q	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	419										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTAGAATGCCGTGTAATATA	0.383000														68			6		0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38396312	38396312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:38396312G>A	uc022bgy.1	+	0	567	c.567G>A	c.(565-567)ttG>ttA	p.L189L	ALDH1B1_uc004aay.3_Silent_p.L189L	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	189					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	ACTTCCCCTTGGTCATGCAGG	0.592000														207			52		0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48390460	48390460	+	Missense_Mutation	SNP	C	T	T	rs34932849	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48390460C>T	uc001jez.3	-	0	532	c.418G>A	c.(418-420)Ggc>Agc	p.G140S		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	140	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCTCCTGGCCCGGGACGCTG	0.637000														262			11		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379085	138379085	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379085G>T	uc022bpi.1	+	0	2729	c.2729G>T	c.(2728-2730)aGc>aTc	p.S910I	PPP1R26_uc004cfr.1_Missense_Mutation_p.S910I	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	910						nucleolus	protein binding										GGCACAGAGAGCGCAGGAGCA	0.706000														223			66		9.4991e-31	1.19706e-30	1	1	0
KIAA0284	283638	broad.mit.edu	37	14	105354058	105354058	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105354058C>T	uc001yps.3	+	10	3578	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	KIAA0284_uc010axb.3_Missense_Mutation_p.A1091V|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1161						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCTGAGCAGGCCAAGAAGCTG	0.716000														27			6		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27197484	27197484	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27197484C>T	uc011lno.2	+	10	2109	c.1667C>T	c.(1666-1668)tCg>tTg	p.S556L	TEK_uc003zqi.4_Missense_Mutation_p.S599L|TEK_uc011lnp.2_Missense_Mutation_p.S452L|TEK_uc003zqj.1_Missense_Mutation_p.S533L|5S_rRNA_uc022bex.1_5'Flank	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	599	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AACTTGACTTCGGTGCTACTT	0.463000														142			30		0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99226447	99226447	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226447C>T	uc010yvl.2	+	1	510	c.276C>T	c.(274-276)gaC>gaT	p.D92D	COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Silent_p.D75D|UNC50_uc002szb.3_Silent_p.D75D	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	75					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding			breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						AGACGAAGGACCAGTGGGCCA	0.448000														102			32		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135947	55135947	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135947C>A	uc010rif.2	+	0	588	c.588C>A	c.(586-588)ttC>ttA	p.F196L		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AGCTCCCTTTCTGTGGACCCA	0.428000														178			37		6.70999e-13	7.77533e-13	1	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79059345	79059345	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059345T>C	uc002bej.4	-	18	3119	c.2908A>G	c.(2908-2910)Acc>Gcc	p.T970A	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	970	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GTGTCATTGGTGCAGAGGACA	0.667000														136			25		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16330160	16330160	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16330160C>T	uc002gpy.3	+	6	1619	c.1220C>T	c.(1219-1221)gCt>gTt	p.A407V	TRPV2_uc002gpz.3_Intron	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	407					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		ATCTTCACCGCTGTTGCCTAC	0.532000														117			29		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49690192	49690192	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49690192G>A	uc003cxe.4	+	4	3317	c.3203G>A	c.(3202-3204)cGc>cAc	p.R1068H		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1068					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CAGCGCATCCGCAGCACGGCC	0.647000														115			23		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629664	109629664	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109629664G>A	uc001tob.3	+	14	2427	c.2308G>A	c.(2308-2310)Gat>Aat	p.D770N	ACACB_uc001toc.3_Missense_Mutation_p.D770N	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	770					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAGAAACCGGATATCATGCT	0.557000														97			21		0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76867809	76867809	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76867809A>C	uc001jws.3	-	1	363	c.308T>G	c.(307-309)aTc>aGc	p.I103S	DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.	103	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GTAGGCACTGATGTCAAAATC	0.607000														68			18		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124483018	124483018	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124483018C>A	uc003vlm.3	-	13	1608	c.1007_splice	c.e13-1	p.I336_splice	POT1_uc011koe.2_Splice_Site|POT1_uc003vlk.3_Splice_Site|POT1_uc003vll.3_Splice_Site|POT1_uc003vln.3_Splice_Site|POT1_uc003vlo.3_Splice_Site_p.I205_splice	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	336					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGTAAGTACTGTAAAGAAT	0.318000														34			6		2.0095e-06	2.13635e-06	1	1	0
CASP8	841	broad.mit.edu	37	2	202149924	202149924	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202149924G>A	uc002uxr.1	+	8	1397	c.1188G>A	c.(1186-1188)gaG>gaA	p.E396E	CASP8_uc002uxq.1_Silent_p.E381E|CASP8_uc002uxp.1_Silent_p.E413E|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Silent_p.E455E|CASP8_uc002uxw.1_Silent_p.E381E|CASP8_uc010ftf.2_Silent_p.E312E	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	396					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TCCCGGATGAGGCTGACTTTC	0.463000										HNSCC(4;0.00038)				95			31		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798820	55798820	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798820G>T	uc010riw.2	+	0	926	c.926G>T	c.(925-927)gGa>gTa	p.G309V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GAAAGAATTGGATATTCAAAT	0.289000														80			13		1.5842e-08	1.73923e-08	1	1	0
ATHL1	80162	broad.mit.edu	37	11	290822	290822	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:290822C>T	uc010qvu.2	+	3	730	c.615C>T	c.(613-615)ggC>ggT	p.G205G	ATHL1_uc001lor.4_Silent_p.G28G|ATHL1_uc001los.1_Silent_p.G205G|ATHL1_uc001lou.4_5'Flank	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	205					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-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)		CAGCAGTGGGCGGCAGCCAGG	0.652000														125			40		0	0	1	0	0
CTAGE11P	647288	broad.mit.edu	37	13	75814107	75814107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75814107C>T	uc010ths.2	-	0	411	c.370G>A	c.(370-372)Gca>Aca	p.A124T						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		AAACTTCGTGCTTCTGCTACC	0.398000														223			53		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123742	66123742	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66123742C>A	uc002jgq.3	+	5		c.2865C>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GCATTCTCCCCAAATGCCTGG	0.572000														86			9		3.09899e-07	3.33423e-07	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363492	22363492	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363492C>T	uc002nqs.1	-	2	1345	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G343A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AAAGCTTTCCCGCATTCTTCA	0.408000														128			19		0	0	1	0	0
ZNF189	7743	broad.mit.edu	37	9	104170805	104170805	+	Missense_Mutation	SNP	G	T	T	rs150965680		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170805G>T	uc004bbh.1	+	2	1031	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF189_uc004bbg.1_Missense_Mutation_p.R210M|ZNF189_uc004bbi.1_Missense_Mutation_p.R238M|ZNF189_uc011lvk.1_Missense_Mutation_p.R237M|ZNF189_uc022ble.1_Missense_Mutation_p.R157M	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	252					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAACATCAAAGGATTCATACA	0.423000														242			50		2.43468e-25	3.03473e-25	1	1	0
SPTBN5	51332	broad.mit.edu	37	15	42178435	42178435	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178435C>A	uc001zos.3	-	6	1246	c.913G>T	c.(913-915)Gcc>Tcc	p.A305S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	340					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCCGCATGGCGGGCAGCGAG	0.642000														98			27		2.44723e-14	2.87423e-14	1	1	0
CYP4Z2P	163720	broad.mit.edu	37	1	47348859	47348859	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47348859C>T	uc001cqo.1	-	4		c.643G>A			CYP4Z2P_uc009vyn.1_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CAACTGGATGCTGCCCTGGTG	0.488000														126			37		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43706095	43706095	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43706095G>T	uc011aev.2	+	7	1071	c.997G>T	c.(997-999)Gca>Tca	p.A333S	ABCG1_uc002zam.3_Missense_Mutation_p.A300S|ABCG1_uc002zan.3_Missense_Mutation_p.A324S|ABCG1_uc002zao.3_Missense_Mutation_p.A319S|ABCG1_uc002zap.3_Missense_Mutation_p.A322S|ABCG1_uc002zaq.3_Missense_Mutation_p.A322S|ABCG1_uc002zar.3_Missense_Mutation_p.A333S|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	322					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCACAACCCAGCAGATTTTGG	0.522000														161			50		2.13384e-23	2.64232e-23	1	1	0
B3GALT4	8705	broad.mit.edu	37	6	33245202	33245202	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245202G>A	uc003odr.3	+	0	286	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	2					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GCACCATGCAGCTCAGGCTCT	0.677000														228			40		0	0	1	0	0
C20orf94	128710	broad.mit.edu	37	20	10582383	10582383	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10582383C>A	uc010zre.2	+	5	501	c.321C>A	c.(319-321)ctC>ctA	p.L107L		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	107							protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						ATACAGAACTCTGTGTATTCC	0.328000														41			12		5.16669e-11	5.85653e-11	1	1	0
MMP10	4319	broad.mit.edu	37	11	102647433	102647433	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102647433C>A	uc001phg.2	-	4	734	c.697G>T	c.(697-699)Gct>Tct	p.A233S		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	233					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TACATCAAAGCTTCAGTGTTG	0.473000														143			22		1.28384e-07	1.38782e-07	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784497C>T	uc003lkh.2	+	0	1978	c.1978C>T	c.(1978-1980)Ctc>Ttc	p.L660F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.L660F	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	662	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGTCACGCTCACAGTAGC	0.602000														138			34		0	0	1	0	0
ARPC5L	81873	broad.mit.edu	37	9	127639172	127639172	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127639172G>A	uc004bpa.4	+	3	501	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5-like (ARPC5L), mRNA.	139					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding			large_intestine(2)|lung(1)	3						AGCAGTAGGAGGACTAGGCTC	0.483000														69			18		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415084	116415084	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116415084C>T	uc003vij.3	+	14	3365	c.3178C>T	c.(3178-3180)Cca>Tca	p.P1060S	MET_uc010lkh.3_Missense_Mutation_p.P1078S|MET_uc011knj.2_Missense_Mutation_p.P630S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1060					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGCTCTAAATCCAGAGCTGGT	0.473000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					168			36		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186456534	186456534	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186456534C>A	uc003ixw.4	-	0	179	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	PDLIM3_uc003ixx.4_Missense_Mutation_p.G19W|PDLIM3_uc010isi.3_Non-coding_Transcript|PDLIM3_uc003ixy.3_Missense_Mutation_p.G19W|PDLIM3_uc003ixz.2_Missense_Mutation_p.G19W	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	19	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TCTATGCCCCCTGAGAGCCTG	0.682000														32			6		0.00198382	0.00202356	1	1	0
SOS2	6655	broad.mit.edu	37	14	50641224	50641224	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50641224C>T	uc001wxs.4	-	7	1114	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SOS2_uc010tql.2_Intron|SOS2_uc001wxt.2_Missense_Mutation_p.R27H	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	339	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding	p.R339H(3)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAGCATAAGACGTGGAAGGAC	0.378000														37			6		0	0	1	0	0
CEL	1056	broad.mit.edu	37	9	135942552	135942552	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135942552C>T	uc010naa.1	+	6	880	c.864C>T	c.(862-864)gcC>gcT	p.A288A		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	285				RALTL -> AAVTV (in Ref. 5; AAB35488).	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)		ATCCCCGAGCCCTGACGCTGG	0.652000														68			9		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12124078	12124078	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12124078C>T	uc003nac.3	+	3	4229	c.4050C>T	c.(4048-4050)ggC>ggT	p.G1350G	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1350					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTCCAGCTGGCTTGAATACTC	0.438000														89			6		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149490411	149490411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149490411C>T	uc010lpk.3	+	38	5878	c.5878C>T	c.(5878-5880)Ccc>Tcc	p.P1960S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1963	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGACGGAGCCCTGTGAGGG	0.647000														60			6		0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3191914	3191914	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3191914C>T	uc009xhv.2	-	15	1839	c.1770G>A	c.(1768-1770)caG>caA	p.Q590Q	PITRM1_uc001igr.2_Silent_p.Q590Q|PITRM1_uc001igt.2_Silent_p.Q590Q|PITRM1_uc010qah.2_Silent_p.Q558Q|PITRM1_uc001igu.1_Silent_p.Q582Q|PITRM1_uc010qai.2_Silent_p.Q561Q	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	558					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CATTGGTGGGCTGGGCGCAGT	0.478000														231			44		0	0	1	0	0
FAM82A2	55177	broad.mit.edu	37	15	41043684	41043684	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41043684C>T	uc001zmp.1	-	3	649	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM82A2_uc001zmo.1_Missense_Mutation_p.S155N|FAM82A2_uc001zmq.1_Missense_Mutation_p.S155N	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	155					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						GTAGACAGAGCTGGAGCCAGT	0.587000														213			50		0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50862018	50862018	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50862018C>T	uc002prx.3	-	8	1108	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	352					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CAAGCAGAGGCGGACGCCATT	0.632000														69			16		0	0	1	0	0
ZNF800	168850	broad.mit.edu	37	7	127014937	127014937	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127014937A>G	uc010lla.2	-	4	1165	c.453T>C	c.(451-453)gaT>gaC	p.D151D	ZNF800_uc003vlw.1_Silent_p.D54D|ZNF800_uc003vlx.1_Silent_p.D151D|ZNF800_uc003vly.1_Silent_p.D151D	NM_176814	NP_789784	Q2TB10	ZN800_HUMAN	Homo sapiens zinc finger protein 800 (ZNF800), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAATAGGATTATCAGTCCTCG	0.368000														97			24		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128621	126128621	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128621G>T	uc001uhe.1	+	6	1431	c.1423_splice	c.e6-1	p.V475_splice	TMEM132B_uc001uhf.1_Splice_Site	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	475						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCTTCCCAAAGGTTTCCAACA	0.428000														95			18		5.01169e-05	5.22235e-05	1	1	0
DBR1	51163	broad.mit.edu	37	3	137893465	137893465	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137893465T>C	uc003erv.3	-	0	327	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	DBR1_uc003eru.3_Missense_Mutation_p.Y7C	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	58						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CATGTGACGATACTTGGGCGG	0.687000														41			13		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43027821	43027821	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027821G>A	uc001zql.3	-	3	947	c.830C>T	c.(829-831)tCg>tTg	p.S277L	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	277						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGGAGGGGCGACCCCAATTC	0.577000														112			23		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180793991	180793991	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180793991C>T	uc001goi.3	+	7	1058	c.866C>T	c.(865-867)aCg>aTg	p.T289M	XPR1_uc009wxm.2_Missense_Mutation_p.T289M|XPR1_uc009wxn.3_Missense_Mutation_p.T289M	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	289						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGCATCAACACGTATGGTTGG	0.388000														98			17		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113276288	113276288	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113276288T>C	uc010mtz.3	-	3	1400	c.1063A>G	c.(1063-1065)Aca>Gca	p.T355A	SVEP1_uc010mua.1_Missense_Mutation_p.T355A|SVEP1_uc004beu.2_Missense_Mutation_p.T355A|SVEP1_uc004bev.3_Missense_Mutation_p.T99A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	355					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						TCAGGGGATGTGCTTCCAGGT	0.507000														24			9		0	0	1	0	0
PACRGL	133015	broad.mit.edu	37	4	20706376	20706376	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20706376A>C	uc010iei.1	+	4	536	c.290A>C	c.(289-291)gAg>gCg	p.E97A	PACRGL_uc003gpu.3_Non-coding_Transcript|PACRGL_uc003gpz.3_Missense_Mutation_p.E49A|PACRGL_uc011bxm.2_Missense_Mutation_p.E49A|PACRGL_uc003gqa.3_Missense_Mutation_p.E49A|PACRGL_uc010iek.3_Missense_Mutation_p.E49A|PACRGL_uc010iej.1_Non-coding_Transcript|PACRGL_uc011bxn.2_Missense_Mutation_p.E49A	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	49							binding			endometrium(2)|lung(7)|prostate(1)	10						AGTTCTCCAGAGTCTGCAAGA	0.383000														113			22		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42019805	42019805	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42019805C>T	uc003xop.3	+	4	743	c.452C>T	c.(451-453)aCg>aTg	p.T151M	AP3M2_uc003xoo.3_Missense_Mutation_p.T151M|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_Missense_Mutation_p.T36M	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	151					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TCAGGAAGCACGAATGTGGGT	0.453000														286			65		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25183050	25183050	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25183050G>A	uc003xeg.3	+	17	2027	c.1890G>A	c.(1888-1890)aaG>aaA	p.K630K	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.K344K|DOCK5_uc003xei.3_Silent_p.K200K|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	630	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCCACAAAGCTCACCCAGA	0.478000														84			21		0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034018	78034018	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78034018T>G	uc001dhq.3	-	13	2942	c.2466_splice	c.e13+1	p.K822_splice	ZZZ3_uc001dhr.3_Splice_Site_p.K328_splice|ZZZ3_uc001dhp.3_Splice_Site_p.K821_splice	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						AGAACTTACCTTAAAGCCCAC	0.343000														84			22		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20144736	20144736	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20144736T>C	uc002wru.3	+	10	1183	c.1069T>C	c.(1069-1071)Tat>Cat	p.Y357H	C20orf26_uc010gcw.2_Missense_Mutation_p.Y311H|C20orf26_uc010zse.2_Missense_Mutation_p.Y357H|C20orf26_uc010zsf.1_Missense_Mutation_p.Y357H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	357										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATATGCACAGTATCACCATGT	0.502000														137			16		0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	100011029	100011029	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100011029A>G	uc002tab.3	+	19	3254	c.3070A>G	c.(3070-3072)Atg>Gtg	p.M1024V	EIF5B_uc010yvq.2_Missense_Mutation_p.M6V	NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	1024					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGCTTCAGTGATGTTGGAACA	0.368000														235			69		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160109761	160109761	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160109761G>A	uc001fvc.3	+	21	3153	c.3021G>A	c.(3019-3021)cgG>cgA	p.R1007R	ATP1A2_uc001fvd.3_Silent_p.R726R	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	1007					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCATCCTGCGGCGGTATCCTG	0.587000														153			51		0	0	1	0	0
SP1	6667	broad.mit.edu	37	12	53776411	53776411	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53776411C>A	uc001scw.3	+	2	777	c.680C>A	c.(679-681)gCt>gAt	p.A227D	SP1_uc021qyf.1_Missense_Mutation_p.A179D|SP1_uc010sog.2_Missense_Mutation_p.A220D	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	227	Transactivation domain A (Gln-rich).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	HMG box domain binding|double-stranded DNA binding|histone deacetylase binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		ATCATTGCTGCTATGCCAAAC	0.502000														161			33		1.39649e-27	1.7501e-27	1	1	0
IKZF1	10320	broad.mit.edu	37	7	50468219	50468219	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50468219G>T	uc003tow.4	+	7	1609	c.1454G>T	c.(1453-1455)gGc>gTc	p.G485V	IKZF1_uc022acq.1_Missense_Mutation_p.G342V|IKZF1_uc003tpa.4_Missense_Mutation_p.G250V|IKZF1_uc022acr.1_Missense_Mutation_p.G260V|IKZF1_uc022acs.1_Missense_Mutation_p.G215V|IKZF1_uc022act.1_Missense_Mutation_p.G388V|IKZF1_uc022acu.1_Missense_Mutation_p.G398V|IKZF1_uc003tox.4_Missense_Mutation_p.G443V|IKZF1_uc022acv.1_Missense_Mutation_p.G346V|IKZF1_uc022acw.1_Missense_Mutation_p.G356V|IKZF1_uc022acx.1_Missense_Mutation_p.G398V|IKZF1_uc022acy.1_Missense_Mutation_p.G292V|IKZF1_uc022acz.1_Missense_Mutation_p.G302V|IKZF1_uc011kck.2_Missense_Mutation_p.G398V|IKZF1_uc003toy.4_Missense_Mutation_p.G443V|IKZF1_uc003toz.4_Missense_Mutation_p.G455V|IKZF1_uc010kyx.3_Missense_Mutation_p.G225V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	485					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)|p.G485D(1)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GGCTGCCACGGCTTCCGTGAT	0.587000			"""D,T"""	BCL6	"""ALL, DLBCL"""									73			24		2.21704e-12	2.55528e-12	1	1	0
APOB	338	broad.mit.edu	37	2	21250864	21250864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21250864G>A	uc002red.3	-	13	2031	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	635	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R635W(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGATAGTTCCGAGAGAATTTT	0.368000														160			42		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945596	58945596	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945596G>A	uc002qst.4	-	2	1616	c.1215C>T	c.(1213-1215)tgC>tgT	p.C405C		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CACATTGACTGCACTCATAAG	0.468000														155			18		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98508838	98508838	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98508838A>G	uc010bom.3	+	1	475	c.316A>G	c.(316-318)Atc>Gtc	p.I106V	ARRDC4_uc002bui.4_Missense_Mutation_p.I19V	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	106					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGGTGAAGGCATCATTTTATT	0.308000														92			28		0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62321794	62321794	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62321794G>A	uc021wge.1	+	25	2583	c.2413_splice	c.e25+1	p.G805_splice	RTEL1_uc011abc.2_Splice_Site|RTEL1_uc002yfu.2_Splice_Site_p.G805_splice|RTEL1_uc011abd.2_Splice_Site_p.G829_splice|RTEL1_uc002yfw.3_Splice_Site|RTEL1_uc011abe.1_Splice_Site_p.G582_splice|RTEL1_uc002yfx.1_Splice_Site_p.G50_splice	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	805					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGGTCCTCAGGTGCGGACGG	0.701000														76			13		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149477527	149477527	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149477527A>G	uc010lpk.3	+	11	1598	c.1598A>G	c.(1597-1599)tAt>tGt	p.Y533C	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	533					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCCAGCGCTATGTACCCGGT	0.647000														62			9		0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026052	129026052	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026052G>A	uc002tpt.4	-	1	954	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	307					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GAGGTTGAACGTCCGCTCGAA	0.627000														69			15		0	0	1	0	0
COX7C	1350	broad.mit.edu	37	5	85915251	85915251	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85915251T>G	uc003kir.3	+	1	246	c.157T>G	c.(157-159)Ttc>Gtc	p.F53V	MIR3607_uc021yba.1_5'Flank	NM_001867	NP_001858	P15954	COX7C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA.	53					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	p.P52P(1)		endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		TGCTACACCCTTCCTTGTAGT	0.373000														145			28		0	0	1	0	0
ST7L	54879	broad.mit.edu	37	1	113098550	113098550	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113098550G>T	uc001ecd.3	-	11	1641	c.1336C>A	c.(1336-1338)Ctt>Att	p.L446I	ST7L_uc009wgh.3_Intron|ST7L_uc001ecc.3_Missense_Mutation_p.L263I|ST7L_uc010owg.2_Missense_Mutation_p.L381I|ST7L_uc010owh.2_Missense_Mutation_p.L240I|ST7L_uc001ecf.3_Missense_Mutation_p.L429I|ST7L_uc001ece.3_Missense_Mutation_p.L446I|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.L381I|ST7L_uc001ech.3_Missense_Mutation_p.L429I|ST7L_uc001eci.3_Missense_Mutation_p.L446I|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Intron	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	446					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGCTGAAGATGAAAGAAA	0.363000														80			6		0.0293803	0.0295844	1	1	0
TRIM68	55128	broad.mit.edu	37	11	4626710	4626710	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626710C>A	uc001lzf.2	-	1	315	c.25G>T	c.(25-27)Gcc>Tcc	p.A9S	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Missense_Mutation_p.A9S	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	9					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TCCACAATGGCTTCCACCAAG	0.512000														117			30		2.81731e-10	3.16624e-10	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217341855	217341855	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217341855C>T	uc002vgc.4	+	15	2781	c.2451C>T	c.(2449-2451)cgC>cgT	p.R817R	SMARCAL1_uc002vgd.4_Silent_p.R817R|SMARCAL1_uc010fvg.3_Silent_p.R795R	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	817	Helicase C-terminal.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGAGGACCGCGTGCACCGCA	0.567000									Schimke Immuno-Osseous Dysplasia					11			4		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9101937	9101937	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9101937T>C	uc003brf.1	-	5	1455	c.779A>G	c.(778-780)cAt>cGt	p.H260R	SRGAP3_uc003brg.1_Missense_Mutation_p.H260R|SRGAP3_uc003bri.1_Non-coding_Transcript|SRGAP3_uc003brk.3_Missense_Mutation_p.H260R|SRGAP3_uc003brj.1_Missense_Mutation_p.H120R	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	260					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)		AGAGACATCATGGATGTAGTA	0.542000			T	RAF1	pilocytic astrocytoma									195			9		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32702455	32702455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32702455G>A	uc010ezu.3	+	34	7006	c.6872G>A	c.(6871-6873)cGt>cAt	p.R2291H		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2291					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GATTTAATTCGTTTACGTCGG	0.328000														99			31		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720514	95720514	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720514G>A	uc009xuj.2	-	0	1159	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GAAGCCCGCCGCCTGTAGGTT	0.448000														118			7		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55264223	55264223	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55264223C>A	uc003jqq.3	-	5	684	c.371_splice	c.e5-1	p.L124_splice	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Splice_Site|IL6ST_uc003jqr.3_Splice_Site_p.L124_splice|IL6ST_uc010iwb.3_Splice_Site_p.L124_splice|IL6ST_uc010iwf.1_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	124					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTCTGGAGGCACTAAAAGGG	0.368000			O		hepatocellular ca									82			15		3.27435e-08	3.57295e-08	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46351106	46351106	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46351106G>T	uc002pdn.3	-	6	825	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	SYMPK_uc002pdo.1_Missense_Mutation_p.L194M|SYMPK_uc002pdp.1_Missense_Mutation_p.L194M|SYMPK_uc002pdq.2_Missense_Mutation_p.L194M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582000														88			13		2.27111e-07	2.44751e-07	1	1	0
ALPP	250	broad.mit.edu	37	2	233244614	233244614	+	Missense_Mutation	SNP	G	A	A	rs138033708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244614G>A	uc002vsq.3	+	4	790	c.625G>A	c.(625-627)Gct>Act	p.A209T		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	209						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCAGGACATCGCTACGCAGCT	0.682000														261			11		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73188804	73188804	+	Missense_Mutation	SNP	A	C	C	rs61757480		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73188804A>C	uc003hgk.2	-	5	909	c.872T>G	c.(871-873)aTt>aGt	p.I291S		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	291	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATCATGGTAAATTTCATTCAC	0.358000														164			46		0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57507359	57507359	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57507359T>G	uc010cdb.3	-	7	1171	c.911A>C	c.(910-912)aAc>aCc	p.N304T	DOK4_uc002elv.4_Missense_Mutation_p.N304T	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	304							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GATGAATCTGTTGAGGAGGTC	0.597000														100			17		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878356	151878356	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878356G>A	uc003wla.3	-	35	6808	c.6589C>T	c.(6589-6591)Cag>Tag	p.Q2197*	MLL3_uc003wkz.3_Nonsense_Mutation_p.Q1258*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2197	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.Q2197*(2)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GAATGCCTCTGATTTGTTACA	0.488000			N		medulloblastoma									116			6		0	0	1	0	0
NFIX	4784	broad.mit.edu	37	19	13192511	13192511	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13192511G>T	uc010xmx.2	+	7	1173	c.1120G>T	c.(1120-1122)Gca>Tca	p.A374S	NFIX_uc002mwd.3_Missense_Mutation_p.A366S|NFIX_uc002mwe.3_Missense_Mutation_p.A358S|NFIX_uc002mwf.3_Missense_Mutation_p.A328S|NFIX_uc002mwg.2_Missense_Mutation_p.A365S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	366					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CCGGGCCACAGCATCAGCCCT	0.662000														104			18		9.16793e-09	1.00855e-08	1	1	0
TBC1D14	57533	broad.mit.edu	37	4	6925330	6925330	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6925330G>A	uc011bwg.2	+	1	293	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TBC1D14_uc003gjs.4_Missense_Mutation_p.E72K	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	72						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCCTACCCTGGAGATCGGGAA	0.657000														164			39		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711440	192711440	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711440G>T	uc002utb.3	-	0	567	c.212C>A	c.(211-213)gCt>gAt	p.A71D		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	71						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTCCTGCACAGCGTCTAGCAT	0.567000														119			35		3.11337e-16	3.70767e-16	1	1	0
OR13G1	441933	broad.mit.edu	37	1	247835702	247835702	+	Silent	SNP	G	T	T	rs138408145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835702G>T	uc001idi.1	-	0	642	c.642C>A	c.(640-642)tcC>tcA	p.S214S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S214S(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAAAACCATAGGAGATGCAGG	0.458000														96			18		2.94398e-08	3.21697e-08	1	1	0
DHRS13	147015	broad.mit.edu	37	17	27228610	27228610	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228610A>C	uc002hde.4	-	2	398	c.271T>G	c.(271-273)Ttc>Gtc	p.F91V	DHRS13_uc002hdd.4_Missense_Mutation_p.F41V|DHRS13_uc010wba.2_Intron	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	91						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			AAGGCCATGAAGATGACCTCA	0.587000														125			29		0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938254	88938254	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88938254G>A	uc004aou.3	-	12	2549	c.2411C>T	c.(2410-2412)gCc>gTc	p.A804V	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.A804V|ZCCHC6_uc004aot.3_Missense_Mutation_p.A681V|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	804					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATCTAAAGTGGCAAGTCCCTC	0.453000														164			36		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102766922	102766922	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766922C>A	uc001ksj.3	+	4	2177	c.2007C>A	c.(2005-2007)atC>atA	p.I669I	LZTS2_uc010qpw.2_Silent_p.I669I|LZTS2_uc001ksk.3_Silent_p.I669I|LZTS2_uc001ksl.3_Silent_p.I669I|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	669	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTACTGAGATCTAGGGCCCTC	0.657000														45			7		0.000157383	0.000162836	1	1	0
SLC26A11	284129	broad.mit.edu	37	17	78197116	78197116	+	Missense_Mutation	SNP	A	C	C	rs144577972		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78197116A>C	uc002jyb.2	+	4	799	c.493A>C	c.(493-495)Atc>Ctc	p.I165L	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Missense_Mutation_p.I165L|SLC26A11_uc002jyd.2_Missense_Mutation_p.I165L|SLC26A11_uc010dhv.2_Missense_Mutation_p.I165L	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	165						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCCGTCACCATCGGCTTTGG	0.622000														73			12		0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42919301	42919301	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42919301G>A	uc003xps.3	+	2	392	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	FNTA_uc003xpt.3_Missense_Mutation_p.R24Q|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	115					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGAAGTGAACGAGCTTTTAAG	0.383000														148			27		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58562651	58562651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58562651G>A	uc002ybe.3	+	7	1292	c.981G>A	c.(979-981)tcG>tcA	p.S327S	CDH26_uc002ybf.1_5'Flank|CDH26_uc010zzy.2_Non-coding_Transcript	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	327	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TTGACATTTCGACTGACCCTG	0.453000														139			24		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73175167	73175167	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73175167T>C	uc003hgk.2	-	14	2163	c.2126A>G	c.(2125-2127)aAt>aGt	p.N709S	ADAMTS3_uc003hgl.3_Missense_Mutation_p.N50S	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	709	Cys-rich.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCAGTGGGAATTATCTCCTCC	0.433000														109			21		0	0	1	0	0
GPR151	134391	broad.mit.edu	37	5	145895387	145895387	+	Missense_Mutation	SNP	G	A	A	rs145255868	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145895387G>A	uc003lod.1	-	0	290	c.290C>T	c.(289-291)aCg>aTg	p.T97M		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	97						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGTACGCCGTAGCTCGGAT	0.502000														123			30		0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53873226	53873226	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53873226G>A	uc001sdl.4	+	14	1448	c.1098G>A	c.(1096-1098)taG>taA	p.*366*	PCBP2_uc001sde.4_Silent_p.*362*|PCBP2_uc001sdi.4_Silent_p.*336*|PCBP2_uc001sdd.4_Silent_p.*332*|PCBP2_uc001sdf.4_Silent_p.*319*|PCBP2_uc001sdc.4_Silent_p.*367*|PCBP2_uc001sdb.4_Silent_p.*363*|PCBP2_uc010soi.2_Silent_p.*104*|PCBP2_uc010soj.2_Silent_p.*116*|PCBP2_uc001sdk.4_Silent_p.*139*	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	0					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGAGCAGCTAGAACAATGCAG	0.478000														43			12		0	0	1	0	0
MAL2	114569	broad.mit.edu	37	8	120233931	120233931	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120233931G>A	uc003yop.3	+	2	339	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_052886	NP_443118	Q969L2	MAL2_HUMAN	Homo sapiens mal, T-cell differentiation protein 2 (gene/pseudogene) (MAL2), mRNA.	79	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTTTCTTTTCGCTCCTCTTTC	0.458000														246			45		0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11492759	11492759	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492759G>A	uc002mrj.2	-	2	409	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	EPOR_uc010xly.2_5'UTR|EPOR_uc002mrk.2_5'UTR|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	92						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TGGTGCAGGCGACACAGCTTC	0.672000														100			33		0	0	1	0	0
CRY1	1407	broad.mit.edu	37	12	107393758	107393758	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107393758G>A	uc001tmi.3	-	5	1646	c.787C>T	c.(787-789)Cga>Tga	p.R263*		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	263	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA photolyase activity|blue light photoreceptor activity|double-stranded DNA binding|nucleotide binding|protein binding	p.R263*(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TAAAACAGTCGACATGACAAA	0.338000														78			11		0	0	1	0	0
CCDC64	92558	broad.mit.edu	37	12	120502561	120502561	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120502561C>T	uc001txl.1	+	3	812	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	CCDC64_uc001txk.2_Missense_Mutation_p.R263W|CCDC64_uc009zwv.1_Non-coding_Transcript|CCDC64_uc010sze.1_Missense_Mutation_p.R7W	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	263					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding	p.R263L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCGGAAACGGGAGCTGGA	0.567000														188			46		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73994861	73994861	+	Silent	SNP	G	A	A	rs145054349	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73994861G>A	uc002avv.1	+	2	579	c.345G>A	c.(343-345)gcG>gcA	p.A115A	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Silent_p.A115A|CD276_uc002avw.1_Silent_p.A115A|CD276_uc010ulb.1_Silent_p.A61A	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	115	Ig-like V-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						TGCGTGTGGCGGACGAGGGCA	0.697000														81			21		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100484701	100484701	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100484701G>T	uc003dun.3	-	29	2786	c.2701C>A	c.(2701-2703)Ctg>Atg	p.L901M	ABI3BP_uc003duj.3_Missense_Mutation_p.L481M|ABI3BP_uc003duk.3_Missense_Mutation_p.L610M|ABI3BP_uc003dul.3_Missense_Mutation_p.L731M|ABI3BP_uc011bhd.2_Missense_Mutation_p.L855M|ABI3BP_uc003dum.3_Missense_Mutation_p.L312M	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	901	Fibronectin type-III 2.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGGTTTCAGATTTTCTACT	0.368000														8			3		0.115264	0.115636	1	1	0
MS4A2	2206	broad.mit.edu	37	11	59857283	59857283	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857283G>A	uc001nop.3	+	1	277	c.175G>A	c.(175-177)Gag>Aag	p.E59K	MS4A2_uc009ymu.3_Missense_Mutation_p.E59K|MS4A2_uc021qka.1_Missense_Mutation_p.E59K	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	59					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	AAAAGAGCAGGAGTTCCTGGG	0.463000														58			20		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408013	29408013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408013C>T	uc011dlp.2	+	0	298	c.221C>T	c.(220-222)tCt>tTt	p.S74F	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T73M(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTATACGTCTGTCACGGTC	0.557000														204			47		0	0	1	0	0
CLRN1	7401	broad.mit.edu	37	3	150645882	150645882	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150645882C>T	uc021xfs.1	-	3	870	c.579G>A	c.(577-579)acG>acA	p.T193T	CLRN1-AS1_uc011bny.1_Intron|CLRN1_uc021xfq.1_Intron|CLRN1_uc021xfr.1_Intron|CLRN1_uc003eyj.3_Silent_p.T104T|CLRN1_uc003eyk.1_Silent_p.T180T	NM_001195794	NP_001182723	P58418	CLRN1_HUMAN	Homo sapiens clarin 1 (CLRN1), transcript variant 5, mRNA.	180					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TTTCACTTTGCGTTTTGTAGA	0.368000														61			13		0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22486947	22486947	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22486947C>T	uc001rfo.4	-	0	702	c.220G>A	c.(220-222)Gcg>Acg	p.A74T	ST8SIA1_uc009zix.3_5'UTR	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	74					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						GCTCTGGCCGCGGTCTGGTTC	0.652000														178			47		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79732719	79732719	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79732719G>T	uc003kgr.4	+	3	517	c.215G>T	c.(214-216)aGc>aTc	p.S72I	ZFYVE16_uc010jak.2_Missense_Mutation_p.S72I|ZFYVE16_uc003kgp.3_Missense_Mutation_p.S72I|ZFYVE16_uc003kgq.4_Missense_Mutation_p.S72I|ZFYVE16_uc003kgs.4_Missense_Mutation_p.S72I	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	72					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TCAGAAACAAGCTATGGAACA	0.393000														85			13		2.27111e-07	2.44751e-07	1	1	0
CYP2J2	1573	broad.mit.edu	37	1	60392254	60392254	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60392254G>A	uc001czq.3	-	0	170	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	55					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)					CAAGGAAGAAGTTGCCAAGGA	0.592000														202			11		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51768812	51768812	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51768812C>T	uc001jix.4	+	7	1325	c.927C>T	c.(925-927)tcC>tcT	p.S309S		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	309					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S309S(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CCCTGTGTTCCAATGGCATGC	0.423000														625			28		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735356	164735356	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735356C>A	uc003fei.3	-	30	3802	c.3739G>T	c.(3739-3741)Gtg>Ttg	p.V1247L		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1247	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.V1247V(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTAGCAGCCACCATAGCGTCA	0.343000										HNSCC(35;0.089)				59			10		2.74318e-10	3.085e-10	1	1	0
IAPP	3375	broad.mit.edu	37	12	21526313	21526313	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21526313C>A	uc001rev.3	+	1	180	c.28C>A	c.(28-30)Ctc>Atc	p.L10I	SLCO1A2_uc010siq.2_Intron|SLCO1A2_uc001res.3_Intron	NM_000415	NP_000406	P10997	IAPP_HUMAN	Homo sapiens islet amyloid polypeptide (IAPP), mRNA.	10					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	GCAAGTATTTCTCATTGTGCT	0.358000														81			12		0.000308642	0.000318063	1	1	0
SEMA3B	7869	broad.mit.edu	37	3	50313010	50313010	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50313010G>A	uc003cyu.3	+	16	1908	c.1666G>A	c.(1666-1668)Gta>Ata	p.V556I	SEMA3B_uc003cyt.3_Missense_Mutation_p.V555I|SEMA3B_uc003cyv.3_Missense_Mutation_p.V444I|SEMA3B_uc003cyw.3_Missense_Mutation_p.V280I|SEMA3B_uc010hli.3_Missense_Mutation_p.V449I|SEMA3B_uc003cyx.3_Missense_Mutation_p.V443I|SEMA3B_uc003cyy.3_Missense_Mutation_p.V214I|SEMA3B_uc011bdo.2_Missense_Mutation_p.V214I	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	557					axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCGGCAAGACGTAAGGAATGG	0.662000														229			38		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90406082	90406082	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406082A>G	uc003pnn.1	-	59	9496	c.9380T>C	c.(9379-9381)tTc>tCc	p.F3127S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3127					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGAATACCTGAATTCTGCTAC	0.498000														64			18		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93196191	93196191	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93196191T>C	uc001tck.3	-	18	2924	c.2659A>G	c.(2659-2661)Ata>Gta	p.I887V		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	887					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AAGTCTAATATAGCGGCTTTT	0.289000														18			4		0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36053933	36053933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36053933C>T	uc010ohy.2	+	3	773	c.565C>T	c.(565-567)Ccc>Tcc	p.P189S	PSMB2_uc001bzd.2_Intron	NM_178548	NP_848643	Q6VUC0	AP2E_HUMAN	Homo sapiens transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon) (TFAP2E), mRNA.	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CTCCACAGTGCCCATCCCCTC	0.597000														129			29		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105242041	105242041	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105242041T>C	uc001ypk.3	-	4	937	c.383A>G	c.(382-384)aAc>aGc	p.N128S	AKT1_uc001ypl.3_Missense_Mutation_p.N128S|AKT1_uc010axa.3_Missense_Mutation_p.N128S|AKT1_uc001ypm.3_Missense_Mutation_p.N128S|AKT1_uc001ypn.3_Missense_Mutation_p.N128S|AKT1_uc010tyk.2_Missense_Mutation_p.N66S	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	128					G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	AGCCCCTGAGTTGTCACTGGG	0.637000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									180			8		0	0	1	0	0
TLR1	7096	broad.mit.edu	37	4	38800334	38800334	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800334G>T	uc003gtl.3	-	3	393	c.119C>A	c.(118-120)cCt>cAt	p.P40H	TLR1_uc021xnn.1_Missense_Mutation_p.P40H	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	40					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TAGGTCTTTAGGAACGTGGAT	0.323000														105			25		1.10923e-09	1.2355e-09	1	1	0
PAPSS2	9060	broad.mit.edu	37	10	89487110	89487110	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89487110G>A	uc001kex.3	+	7	1198	c.935G>A	c.(934-936)gGg>gAg	p.G312E	PAPSS2_uc001kew.3_Missense_Mutation_p.G317E|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	312					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		CGGCTGGAAGGGTGCAGCAAG	0.512000														119			20		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40117392	40117392	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40117392A>G	uc002hyj.4	+	10	1804	c.1715A>G	c.(1714-1716)aAa>aGa	p.K572R	CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	637						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GAACTAAAGAAACTTTCAGAA	0.413000														40			7		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594992	41594992	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41594992C>A	uc002opt.3	+	1	348	c.339C>A	c.(337-339)ggC>ggA	p.G113G		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	113					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TCTTCAAAGGCTATGGTGAGG	0.632000														148			19		3.51602e-12	4.04451e-12	1	1	0
PKN3	29941	broad.mit.edu	37	9	131482694	131482694	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131482694C>A	uc004bvw.3	+	21	2872	c.2479C>A	c.(2479-2481)Ctc>Atc	p.L827I	PKN3_uc010myh.3_Missense_Mutation_p.A812D|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	827	AGC-kinase C-terminal.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCAAGCCCTGCTCGCCCGCAC	0.667000														379			81		5.91559e-30	7.44483e-30	1	1	0
EFTUD1	79631	broad.mit.edu	37	15	82444692	82444692	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82444692T>G	uc002bgt.1	-	17	2272	c.2103A>C	c.(2101-2103)aaA>aaC	p.K701N	EFTUD1_uc002bgu.1_Missense_Mutation_p.K650N	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	701					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCATGTCAACTTTTGGGGGTT	0.358000														164			32		0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7106591	7106591	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7106591C>A	uc010vtn.2	-	5	643	c.383G>T	c.(382-384)aGc>aTc	p.S128I	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.S185I|DLG4_uc002get.4_Missense_Mutation_p.S231I|DLG4_uc010vto.2_Missense_Mutation_p.S228I|DLG4_uc002geu.3_Missense_Mutation_p.S185I	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	188	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TACATAGATGCTATTATCTCC	0.577000														67			10		0.00621372	0.00630477	1	1	0
STAB1	23166	broad.mit.edu	37	3	52542317	52542317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52542317G>A	uc003dej.3	+	20	2251	c.2177G>A	c.(2176-2178)gGg>gAg	p.G726E	STAB1_uc003dei.1_Missense_Mutation_p.G726E	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	726					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGTTTTTTCGGGCCTGACTGC	0.582000														162			39		0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958687	122958687	+	Missense_Mutation	SNP	G	A	A	rs111823200		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958687G>A	uc001ucn.3	-	13	1637	c.1481C>T	c.(1480-1482)cCg>cTg	p.P494L	ZCCHC8_uc001ucl.3_Missense_Mutation_p.P105L|ZCCHC8_uc001ucm.3_Missense_Mutation_p.P256L|ZCCHC8_uc009zxp.3_Missense_Mutation_p.P256L|ZCCHC8_uc009zxq.3_Missense_Mutation_p.P256L	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	494	Pro-rich.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GGGAGTCAGCGGCGGGGTGCC	0.577000														126			34		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781607	14781607	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14781607A>T	uc001rcd.3	-	19	2359	c.2222T>A	c.(2221-2223)aTt>aAt	p.I741N		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	741	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTAGTCTCAATTTTTTTGAA	0.348000														95			21		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186273347	186273347	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186273347A>C	uc001gru.4	+	4	478	c.427A>C	c.(427-429)Aag>Cag	p.K143Q	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.K102Q|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	143					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCAAACAAGAAGAAGACTAA	0.398000														93			9		0	0	1	0	0
NIPAL3	57185	broad.mit.edu	37	1	24782746	24782746	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24782746C>T	uc001bjh.3	+	7	1163	c.756C>T	c.(754-756)acC>acT	p.T252T	NIPAL3_uc009vrc.3_Silent_p.T170T|NIPAL3_uc001bji.3_Silent_p.T27T	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN	Homo sapiens NIPA-like domain containing 3 (NIPAL3), mRNA.	252						integral to membrane				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TGGTGGCAACCGCCGTCTATC	0.552000														541			119		0	0	1	0	0
CLEC2B	9976	broad.mit.edu	37	12	10005919	10005919	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10005919A>G	uc001qwn.3	-	4	1087	c.430T>C	c.(430-432)Tgc>Cgc	p.C144R		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	Homo sapiens C-type lectin domain family 2, member B (CLEC2B), mRNA.	144	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CTTTTCCTGCAAATCCATTTT	0.368000														50			12		0	0	1	0	0
EEF1A1	1915	broad.mit.edu	37	6	74228449	74228449	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74228449C>T	uc003phi.3	-	3	1736	c.744G>A	c.(742-744)ctG>ctA	p.L248L	EEF1A1_uc003phj.3_Silent_p.L248L|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	248						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CCTGGAGAGGCAGGCGCAAGG	0.483000											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		124			25		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48621343	48621343	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621343G>A	uc003ctz.2	-	37	4269	c.4268C>T	c.(4267-4269)cCt>cTt	p.P1423L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1423	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGCAGCCCAGGCTCCCCAGG	0.642000														86			19		0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101271380	101271380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101271380C>T	uc003yjj.1	-	10	2238	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	RNF19A_uc003yjk.1_Missense_Mutation_p.A641T	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	641					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTTCGGGTGGCACTGCCATCA	0.478000											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		198			40		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142655466	142655466	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142655466C>T	uc003wcb.3	-	4	660	c.450G>A	c.(448-450)caG>caA	p.Q150Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	150					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTTGTAGAACTGGAAGGCTT	0.468000														95			13		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123051430	123051430	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123051430C>T	uc003egh.2	-	3	1499	c.1499G>A	c.(1498-1500)cGc>cAc	p.R500H	ADCY5_uc021xdd.1_Missense_Mutation_p.R150H|ADCY5_uc003egg.2_Missense_Mutation_p.R133H|ADCY5_uc003egi.1_Missense_Mutation_p.R59H	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	500	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTTGTCAAAGCGGGCGAAGAG	0.632000														54			15		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48704816	48704816	+	Missense_Mutation	SNP	G	A	A	rs61746008	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48704816G>A	uc001zwx.2	-	64	8571	c.8176C>T	c.(8176-8178)Cgg>Tgg	p.R2726W	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2726			R -> W (in MFS; defects in protein processing).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R2726L(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCCTGCCCCGTTTGGGGTAG	0.517000														231			61		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232128	71232128	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232128T>C	uc002jjm.4	+	2	701	c.507T>C	c.(505-507)gcT>gcC	p.A169A	C17orf80_uc010wqu.1_Silent_p.A169A|C17orf80_uc010dfj.3_Silent_p.A169A|C17orf80_uc002jjk.1_Silent_p.A169A|C17orf80_uc002jjl.4_Silent_p.A169A	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	169						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			CTTCAGAAGCTGGAGCGTCTT	0.403000														107			26		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932771	79932771	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932771A>C	uc004edt.3	-	40	5009	c.4746T>G	c.(4744-4746)gaT>gaG	p.D1582E	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.D1411E|BRWD3_uc004edq.3_Missense_Mutation_p.D1178E|BRWD3_uc010nmj.2_Missense_Mutation_p.D1178E|BRWD3_uc004edr.3_Missense_Mutation_p.D1252E|BRWD3_uc004eds.3_Missense_Mutation_p.D1178E|BRWD3_uc004edo.3_Missense_Mutation_p.D1178E|BRWD3_uc004edu.3_Missense_Mutation_p.D1252E|BRWD3_uc004edv.3_Missense_Mutation_p.D1178E|BRWD3_uc004edw.3_Missense_Mutation_p.D1178E|BRWD3_uc004edx.3_Missense_Mutation_p.D1178E|BRWD3_uc004edy.3_Missense_Mutation_p.D1178E|BRWD3_uc004edz.3_Missense_Mutation_p.D1252E|BRWD3_uc004eea.3_Missense_Mutation_p.D1252E|BRWD3_uc004eeb.3_Missense_Mutation_p.D1178E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1582										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ccatgttttcatcttcttctG	0.403000														56			14		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798496	39798496	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798496G>A	uc002okw.2	-	1	2093	c.2093C>T	c.(2092-2094)cCg>cTg	p.P698L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	698						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTGCGGCCTCGGCCGGGCCGC	0.721000														44			16		0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	30980908	30980908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30980908G>A	uc002hho.1	-	18	2560	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	MYO1D_uc002hhp.1_Missense_Mutation_p.R850W	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	850						myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGTCCTTCCGTTTCAATTCA	0.413000														43			10		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24783453	24783453	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24783453A>G	uc001iru.4	+	6	2107	c.1704A>G	c.(1702-1704)aaA>aaG	p.K568K	KIAA1217_uc001irs.3_Silent_p.K488K|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irv.1_Intron|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Intron|KIAA1217_uc001iry.3_Intron	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	568					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGGAGAAACAGATTGCCA	0.413000														81			18		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861051	147861051	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147861051G>A	uc003ikx.4	-	3	325	c.75C>T	c.(73-75)tcC>tcT	p.S25S	TTC29_uc003ikw.4_5'UTR|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_5'UTR	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	0							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGTCATTTCGGACTACAAAA	0.413000														38			7		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101760367	101760367	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101760367C>T	uc001tia.1	+	46	6313	c.6157C>T	c.(6157-6159)Cta>Tta	p.L2053L		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	2053					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AGATCCACGTCTACCACCCCA	0.502000														204			47		0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96932184	96932184	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96932184C>A	uc002svs.3	+	0	301	c.96C>A	c.(94-96)gcC>gcA	p.A32A	TMEM127_uc002svq.3_5'Flank|TMEM127_uc002svr.3_5'Flank	NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	32					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CCCTGCTGGCCTCGTGCGGCG	0.721000														52			8		0.000274275	0.000282808	1	1	0
SCN1A	6323	broad.mit.edu	37	2	166848892	166848892	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166848892G>T	uc002udo.4	-	27	5120	c.4893C>A	c.(4891-4893)tcC>tcA	p.S1631S	SCN1A_uc010fpk.3_Silent_p.S1603S|SCN1A_uc021vsb.1_Silent_p.S1620S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ACAGGGTAGGGGACACGAAAT	0.433000														152			22		1.10513e-12	1.27896e-12	1	1	0
FER	2241	broad.mit.edu	37	5	108516459	108516459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516459C>T	uc003kop.1	+	17	2444	c.2060C>T	c.(2059-2061)gCa>gTa	p.A687V	FER_uc011cvg.1_Missense_Mutation_p.A512V	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	687	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GACCTTGCTGCAAGAAACTGC	0.383000														104			18		0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005806	57005806	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57005806C>T	uc001slq.1	-	5	1560	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	BAZ2A_uc001slp.1_Missense_Mutation_p.A454T|BAZ2A_uc009zow.1_Missense_Mutation_p.A424T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	456					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding	p.A456T(2)|p.A492T(1)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GTAGAAGCTGCGGGACAAACT	0.562000														37			7		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69519975	69519975	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69519975C>T	uc021xow.1	-	5	1252	c.1094_splice	c.e5-1	p.G365_splice		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	365					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TTGGGATGACCTAAAAGTGGA	0.378000														232			11		0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606769	82606769	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606769T>C	uc011lfs.2	-	0	439	c.439A>G	c.(439-441)Att>Gtt	p.I147V		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	147						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AGTGGTAAAATAAGCATTAGG	0.343000														95			25		0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52033991	52033991	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52033991A>C	uc002pwy.3	-	2	858	c.650T>G	c.(649-651)gTg>gGg	p.V217G	SIGLEC6_uc002pwz.3_Missense_Mutation_p.V217G|SIGLEC6_uc010ydb.2_Missense_Mutation_p.V181G|SIGLEC6_uc010ydc.2_Missense_Mutation_p.V217G|SIGLEC6_uc002pxa.3_Missense_Mutation_p.V217G|SIGLEC6_uc010eoz.2_Missense_Mutation_p.V206G|SIGLEC6_uc010epa.2_Missense_Mutation_p.V206G|SIGLEC6_uc010epb.2_Missense_Mutation_p.V170G	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	217	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGAACGTCACCTGACAGGT	0.662000														191			43		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43973349	43973349	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43973349G>A	uc010bdn.1	-	8	1018	c.850C>T	c.(850-852)Cga>Tga	p.R284*	PPIP5K1_uc001zsm.2_Nonsense_Mutation_p.R284*	NM_014659	NP_055474	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 2, mRNA.	284					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TCACTGTCTCGTTCAACCTTC	0.493000														84			40		0	0	1	0	0
BPGM	669	broad.mit.edu	37	7	134346540	134346540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134346540C>T	uc003vrv.3	+	2	822	c.281C>T	c.(280-282)gCc>gTc	p.A94V	BPGM_uc003vrw.3_Missense_Mutation_p.A94V	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	94					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CACTATGGGGCCTTGATCGGT	0.532000														69			15		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328787	80328787	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328787C>T	uc003hlu.3	-	0	586	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	190					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCTCCATTAACTCCTCCTGTC	0.398000														138			27		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36332624	36332624	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36332624G>A	uc002oby.3	-	19	2964	c.2808C>T	c.(2806-2808)gtC>gtT	p.V936V	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	936	Ig-like C2-type 8.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACTGATGCTGACAAGTTGAA	0.572000														71			13		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95761565	95761565	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95761565T>G	uc003kls.2	-	2	594	c.355A>C	c.(355-357)Aat>Cat	p.N119H	PCSK1_uc021ybq.1_Missense_Mutation_p.N72H	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	119					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGAAGAGATTTAGTGCTGAG	0.408000														65			16		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105372695	105372695	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105372695G>A	uc010qqu.1	-	8	985	c.918C>T	c.(916-918)gcC>gcT	p.A306A	SH3PXD2A_uc010qqr.2_Silent_p.A253A|SH3PXD2A_uc010qqs.1_Silent_p.A198A|SH3PXD2A_uc010qqt.1_Silent_p.A240A|SH3PXD2A_uc009xxn.1_Silent_p.A198A|SH3PXD2A_uc001kxj.1_Silent_p.A363A	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	391	SH3 2.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAACGCCCACGGCACTGCCAT	0.632000														149			8		0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89977587	89977587	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977587C>T	uc002fpb.2	+	17	2054	c.1972C>T	c.(1972-1974)Ctc>Ttc	p.L658F	TCF25_uc002fpc.2_Missense_Mutation_p.P462L|BC160930_uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	658					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAACTTCCACCTCAACGACCT	0.647000														208			30		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46488808	46488808	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46488808C>T	uc003cpq.3	-	9	1535	c.1294G>A	c.(1294-1296)Gag>Aag	p.E432K	LTF_uc003fzr.3_Missense_Mutation_p.E388K|LTF_uc010hjh.3_Missense_Mutation_p.E430K|LTF_uc003cpr.3_Missense_Mutation_p.E419K	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	432	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	CTGTAGTTCTCTGCCAGGACA	0.483000														198			29		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189544	53189544	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53189544C>A	uc001say.3	-	0	349	c.283G>T	c.(283-285)Ggt>Tgt	p.G95C		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	95	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ccaaagccacctccatagcca	0.642000														274			34		6.50621e-10	7.27665e-10	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90179146	90179146	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90179146C>A	uc001dnl.4	+	2	1259	c.1017C>A	c.(1015-1017)taC>taA	p.Y339*		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	339						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATACCTTATACTGGCTGTTCT	0.388000														90			10		0.000442599	0.000455268	1	1	0
C3	718	broad.mit.edu	37	19	6694476	6694476	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694476C>A	uc002mfm.3	-	23	3182	c.3120G>T	c.(3118-3120)gaG>gaT	p.E1040D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1040					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCTGCCGCTTCTCTAGGCCGA	0.622000														157			27		1.13719e-10	1.28347e-10	1	1	0
ITPRIPL1	150771	broad.mit.edu	37	2	96992435	96992435	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96992435T>C	uc002svy.3	+	0	501	c.90T>C	c.(88-90)gtT>gtC	p.V30V	ITPRIPL1_uc002svx.3_Silent_p.V22V|ITPRIPL1_uc010yuk.2_Silent_p.V14V|ITPRIPL1_uc010yul.2_Silent_p.V14V	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	22						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGATGTATGTTGTTCACCACC	0.532000														184			46		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99641019	99641019	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99641019C>T	uc001yga.3	-	3	2421	c.2154G>A	c.(2152-2154)tcG>tcA	p.S718S	BCL11B_uc001ygb.3_Silent_p.S647S	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	718						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGAAGTGCCGCGACGCCGCGT	0.672000			T	TLX3	T-ALL									61			17		0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94395237	94395237	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94395237C>A	uc001ybz.2	+	2	1117	c.792C>A	c.(790-792)gtC>gtA	p.V264V	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.V202V|FAM181A_uc021saz.1_Silent_p.V202V|FAM181A_uc010aus.2_Silent_p.V202V|FAM181A_uc001yca.2_Silent_p.V202V	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	264										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCCTGGGGTCTCCTTGGTGG	0.622000														84			10		0.0581538	0.0584306	1	1	0
INTU	27152	broad.mit.edu	37	4	128625399	128625399	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128625399A>G	uc003ifk.2	+	9	1623	c.1520A>G	c.(1519-1521)gAc>gGc	p.D507G	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	507										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATTACTATGACATGAGGCGG	0.313000														98			21		0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650402C>A	uc003azs.3	-	9	2640	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D	RANGAP1_uc003azt.3_Missense_Mutation_p.E390D|RANGAP1_uc003azu.3_Missense_Mutation_p.E390D|RANGAP1_uc011aoz.2_Missense_Mutation_p.E335D	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	390	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding	p.E390E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562000														100			23		1.50039e-11	1.71053e-11	1	1	0
METTL13	51603	broad.mit.edu	37	1	171765763	171765763	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171765763C>A	uc001ghz.3	+	7	2314	c.1967C>A	c.(1966-1968)cCt>cAt	p.P656H	METTL13_uc001gia.3_Missense_Mutation_p.P570H|METTL13_uc001gib.3_Missense_Mutation_p.P500H|METTL13_uc010pml.2_Missense_Mutation_p.P655H|METTL13_uc001gic.1_Non-coding_Transcript	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	656							methyltransferase activity|protein binding	p.P656L(2)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CAGCTGCACCCTGAGCAAAAA	0.552000														186			64		2.89935e-36	3.67631e-36	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43924345	43924345	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43924345C>A	uc010yny.2	+	6	621	c.538C>A	c.(538-540)Cta>Ata	p.L180I	PLEKHH2_uc002rte.3_Missense_Mutation_p.L180I|PLEKHH2_uc002rtf.3_Missense_Mutation_p.L179I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	180						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCTCTACACTAAAGCTTTC	0.383000														178			10		9.31168e-06	9.81217e-06	1	1	0
ZNF445	353274	broad.mit.edu	37	3	44492866	44492866	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44492866C>T	uc003cnf.2	-	3	886	c.538G>A	c.(538-540)Ggg>Agg	p.G180R	ZNF445_uc011azv.1_Missense_Mutation_p.G180R|ZNF445_uc011azw.1_Missense_Mutation_p.G180R	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	180					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)		AGGTGGTCCCCCAGAGCAGAG	0.587000														246			63		0	0	1	0	0
NUDT17	200035	broad.mit.edu	37	1	145587350	145587350	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145587350G>A	uc001eoe.3	-	6	739	c.731_splice	c.e6+1	p.L244_splice		NM_001012758	NP_001012776	P0C025	NUD17_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 17 (NUDT17), mRNA.	244							hydrolase activity|metal ion binding			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTACTTACAGGACAGAGGGT	0.522000														80			35		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983528	28983528	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28983528C>T	uc002kwr.2	+	10	1702	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	DSG4_uc002kwq.2_Missense_Mutation_p.P523S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	523					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.P523P(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTATGGGTCTCCGTTTACTTT	0.383000														67			16		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60585189	60585189	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60585189C>T	uc002ybs.3	-	3	1674	c.1674G>A	c.(1672-1674)acG>acA	p.T558T		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	558					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CAAGTGAAGCCGTCTGGGCAG	0.622000														151			24		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23775265	23775265	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23775265G>A	uc003sws.4	+	6	659	c.592G>A	c.(592-594)Gat>Aat	p.D198N	STK31_uc003swt.4_Missense_Mutation_p.D175N|STK31_uc011jze.2_Missense_Mutation_p.D198N|STK31_uc010kuq.3_Missense_Mutation_p.D175N	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	198							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGCAGTGTGGATATAGGGGA	0.398000														143			34		0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207620181	207620181	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207620181G>A	uc002vbs.3	-	4	517	c.462C>T	c.(460-462)ggC>ggT	p.G154G	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.G154G|MDH1B_uc021vvm.1_Silent_p.G56G	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	154					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAACACTTCGCCACTCGTCA	0.443000														119			23		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174919199	174919199	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174919199A>C	uc003mda.2	+	1	231	c.93A>C	c.(91-93)gtA>gtC	p.V31V	SFXN1_uc003mdb.1_5'UTR	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	31					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCTTCACTGTAACTGACCCCA	0.403000														64			16		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156635904	156635904	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156635904A>C	uc003lwo.1	+	1	225	c.143A>C	c.(142-144)aAg>aCg	p.K48T		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	48	PH.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCACAGAAGAAGCGCACGCTG	0.433000			T	SYK	peripheral T-cell lymphoma									65			12		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40586068	40586068	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40586068C>T	uc004dex.4	-	2	418	c.278G>A	c.(277-279)cGc>cAc	p.R93H	MED14_uc010nhe.1_5'UTR	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	93					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAAGAGTTGGCGTGTCCGGCT	0.323000														53			11		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67699732	67699732	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67699732C>A	uc001stn.2	+	9	2721	c.2284C>A	c.(2284-2286)Ctg>Atg	p.L762M	CAND1_uc001sto.2_Missense_Mutation_p.L272M	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	762					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTTCCAAGCTCTGGTTGTCAC	0.433000														188			14		4.3838e-07	4.70703e-07	1	1	0
SGK223	157285	broad.mit.edu	37	8	8175943	8175943	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175943G>T	uc003wsh.4	-	4	3942	c.3942C>A	c.(3940-3942)atC>atA	p.I1314I		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1314	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGCCTCGCCGATGCGGATAC	0.716000														176			32		1.80694e-10	2.03462e-10	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11532779	11532779	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532779G>T	uc002gne.3	+	6	1464	c.1396G>T	c.(1396-1398)Gag>Tag	p.E466*		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	466	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGGAAAGGTGGAGTTCAGCGG	0.478000														142			22		9.95505e-16	1.18146e-15	1	1	0
ASB2	51676	broad.mit.edu	37	14	94417504	94417504	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417504C>T	uc001ycd.3	-	5	1091	c.721G>A	c.(721-723)Gct>Act	p.A241T	ASB2_uc001ycc.2_Missense_Mutation_p.A193T|ASB2_uc001yce.1_Missense_Mutation_p.A139T	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	193					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCGTGCAGAGCGGTCCAGCCG	0.622000														192			22		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056913	44056913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056913G>A	uc001cjr.3	+	8	1560	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	PTPRF_uc001cjs.3_Missense_Mutation_p.R407H|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	407	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCGGGCACGCACGGGAGAA	0.701000														52			9		0	0	1	0	0
SLC7A5	8140	broad.mit.edu	37	16	87868172	87868172	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87868172A>C	uc002fkm.3	-	8	1388	c.1316T>G	c.(1315-1317)tTc>tGc	p.F439C		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	439					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GGCCAGGATGAAGAACACAGG	0.647000														15			6		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1251032	1251032	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251032C>T	uc001lta.3	+	9	1274	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.S405S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	405					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCTGCAGCTCCTGGTACT	0.667000														27			5		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578178	124578178	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124578178C>A	uc003eho.3	-	2	569	c.272G>T	c.(271-273)aGc>aTc	p.S91I		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	91					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GAGGGGCAGGCTCCTCAGGAC	0.597000														142			31		1.7881e-09	1.98839e-09	1	1	0
FLNC	2318	broad.mit.edu	37	7	128489608	128489608	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489608C>T	uc003vnz.4	+	29	5384	c.5175C>T	c.(5173-5175)atC>atT	p.I1725I	FLNC_uc003voa.4_Silent_p.I1725I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1725					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGAGCACATCCCCAACAGCC	0.587000														125			29		0	0	1	0	0
ZNF518A	9849	broad.mit.edu	37	10	97916210	97916210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97916210C>T	uc001klp.3	+	5	988	c.131C>T	c.(130-132)gCa>gTa	p.A44V	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.A44V|ZNF518A_uc001klr.3_Missense_Mutation_p.A44V	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		ATTCATTATGCACTAAAAAAT	0.269000														36			12		0	0	1	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31979986	31979986	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31979986C>T	uc010gek.3	-	4	630	c.506G>A	c.(505-507)cGg>cAg	p.R169Q	CDK5RAP1_uc002wyy.3_Missense_Mutation_p.R79Q|CDK5RAP1_uc002wyz.3_Missense_Mutation_p.R169Q|CDK5RAP1_uc002wza.3_Missense_Mutation_p.R169Q|CDK5RAP1_uc010gel.3_Missense_Mutation_p.R79Q|CDK5RAP1_uc010gem.3_Missense_Mutation_p.R169Q|CDK5RAP1_uc002wzc.1_Missense_Mutation_p.R169Q|CDK5RAP1_uc010gen.3_Missense_Mutation_p.R169Q	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	169	MTTase N-terminal.				brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity	p.R169W(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGAGCGGGGCCGCCTTGTCTT	0.458000														170			25		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1028689	1028689	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1028689C>A	uc001lsw.2	-	12	1599	c.1548G>T	c.(1546-1548)caG>caT	p.Q516H		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	516	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACATAGGCCTGGAAGATGG	0.627000														59			6		0.0215528	0.0217347	1	1	0
CCDC92	80212	broad.mit.edu	37	12	124421736	124421736	+	Missense_Mutation	SNP	C	T	T	rs34103982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124421736C>T	uc001ufw.1	-	4	1012	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	CCDC92_uc001ufv.1_Missense_Mutation_p.V272I|CCDC92_uc001ufx.1_Missense_Mutation_p.V289I	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	289										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCCACCCCGACGTGGGCCTTG	0.697000														153			16		0	0	1	0	0
PDCD5	9141	broad.mit.edu	37	19	33076792	33076792	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33076792A>T	uc002ntm.3	+	3	311	c.237A>T	c.(235-237)agA>agT	p.R79S	PDCD5_uc002ntl.3_Missense_Mutation_p.R79S|PDCD5_uc010ede.3_Intron	NM_004708	NP_004699	O14737	PDCD5_HUMAN	Homo sapiens programmed cell death 5 (PDCD5), mRNA.	79					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					AGATGGCAAGATATGGACAAC	0.348000														99			25		0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29911116	29911116	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29911116C>A	uc003nol.3	+	2	499	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Non-coding_Transcript|HLA-A_uc021ytz.1_Missense_Mutation_p.Q139K|HLA-A_uc010jrq.3_Missense_Mutation_p.Q18K|HLA-A_uc003nok.3_Missense_Mutation_p.Q18K|HLA-A_uc021yua.1_3'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q111K|HLA-A_uc011dmc.2_Missense_Mutation_p.Q18K|HLA-A_uc011dmd.2_Missense_Mutation_p.Q18K|HLA-A_uc021yub.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA.	139	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to plasma membrane	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CGGGTACCGGCAGGACGCCTA	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)				113			16		3.41278e-10	3.83229e-10	1	1	0
PNLIPRP2	5408	broad.mit.edu	37	10	118385552	118385552	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118385552G>A	uc001lcq.3	+	4	323	c.300G>A	c.(298-300)gcG>gcA	p.A100A	PNLIPRP2_uc009xyu.1_Non-coding_Transcript|PNLIPRP2_uc009xyv.1_Non-coding_Transcript	NM_005396	NP_005387	P54317	LIPR2_HUMAN	Homo sapiens pancreatic lipase-related protein 2 (PNLIPRP2), mRNA.	100					galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TAGACAAGGCGGAGGACAGCT	0.547000														59			10		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49509662	49509662	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49509662T>C	uc002xvt.1	-	4	1934	c.1589A>G	c.(1588-1590)cAc>cGc	p.H530R	ADNP_uc002xvu.1_Missense_Mutation_p.H530R	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	530						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CATCCGCATGTGTGCGGCCAT	0.408000														172			42		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179411070	179411070	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179411070G>T	uc021vsy.1	-	290	87509	c.87284C>A	c.(87283-87285)tCt>tAt	p.S29095Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S22790Y|TTN_uc021vta.1_Missense_Mutation_p.S22723Y|TTN_uc021vtb.1_Missense_Mutation_p.S22598Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30022	Fibronectin type-III 112.						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)			ATACTGCAAAGAGACTTTTTC	0.448000														170			52		1.81118e-26	2.26393e-26	1	1	0
STAB1	23166	broad.mit.edu	37	3	52554039	52554039	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52554039G>A	uc003dej.3	+	50	5389	c.5315G>A	c.(5314-5316)cGa>cAa	p.R1772Q	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1772	FAS1 6.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCGCCTTTCGAGCTCTGCCT	0.627000														109			19		0	0	1	0	0
IFIT5	24138	broad.mit.edu	37	10	91177557	91177557	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91177557C>G	uc010qnh.2	+	1	832	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	IFIT5_uc010qng.1_Intron	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	201							binding			endometrium(1)|large_intestine(4)|lung(4)	9						GAGCTTTTCTCTGGGGCCTTT	0.448000														110			26		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783453	54783453	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783453G>A	uc004dtj.2	-	7	3084	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	1018					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGGACTCCACGAACTTGGATT	0.522000														48			13		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34652146	34652146	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34652146G>A	uc002yrl.1	+	2	838	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	IFNAR2_uc002yri.1_Missense_Mutation_p.E94K|IFNAR2_uc002yrh.1_Missense_Mutation_p.E211K|IFNAR2_uc002yrk.1_Missense_Mutation_p.E141K	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	162					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GAATGAATACGAAACTTGGAC	0.378000														142			15		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61917621	61917621	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61917621C>T	uc001nsw.1	+	17	2686	c.2484C>T	c.(2482-2484)agC>agT	p.S828S	INCENP_uc001nsx.1_Silent_p.S824S	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	828					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATCTGAATAGCGACGACTCCA	0.592000														169			45		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131598099	131598099	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131598099C>T	uc004bwh.3	-	8	999	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.V272M|CCBL1_uc004bwj.3_Missense_Mutation_p.V222M|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.V366M	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	272					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TTCTGGTGCACGGTCCGCAGG	0.647000														74			7		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791701	110791701	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791701T>G	uc003hzx.4	+	2	1854	c.1661T>G	c.(1660-1662)aTt>aGt	p.I554S	LRIT3_uc003hzw.4_Missense_Mutation_p.I416S	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	554						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTACCATTGATTTGTTTCTTG	0.393000														132			29		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159477	92159477	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92159477C>A	uc001xzs.1	-	8	964	c.824G>T	c.(823-825)aGc>aTc	p.S275I		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	275					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TACCGATAAGCTGTGGCGTGA	0.333000														98			14		9.31168e-06	9.81217e-06	1	1	0
POU6F1	5463	broad.mit.edu	37	12	51589917	51589917	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51589917C>T	uc001rxy.3	-	1	277	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	POU6F1_uc001rxz.3_Missense_Mutation_p.V29M|POU6F1_uc001rya.3_Missense_Mutation_p.V29M	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	29	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGGGCCGCCACACTAGCTGAG	0.617000														45			5		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	649781	649781	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:649781G>A	uc003gap.3	+	6	1098	c.1045G>A	c.(1045-1047)Gca>Aca	p.A349T	PDE6B_uc003gao.4_Missense_Mutation_p.A349T|PDE6B_uc011buy.2_Missense_Mutation_p.A70T|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	349	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AAGCTACGTGGCAGAAAGCGG	0.647000														126			30		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650750	90650750	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650750C>A	uc001xye.1	+	1	1072	c.630C>A	c.(628-630)tgC>tgA	p.C210*		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	210						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TCATCTCTTGCTGCGCCTCAG	0.567000														314			59		4.96213e-28	6.22615e-28	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28807089	28807089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28807089G>A	uc001bpy.3	+	7	1998	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Missense_Mutation_p.R578Q|PHACTR4_uc001bpx.3_Missense_Mutation_p.R562Q	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	578							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AATGAAATACGGCACCAGATT	0.423000														246			25		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041463	107041463	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041463C>T	uc010ywi.1	-	19	3017	c.2960G>A	c.(2959-2961)gGc>gAc	p.G987D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	987					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GTCTTTTTTGCCAAACTGAAA	0.413000														219			58		0	0	1	0	0
TBX20	57057	broad.mit.edu	37	7	35293166	35293166	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35293166C>T	uc011kas.2	-	0	546	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	22						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						TCGACATGAGCGCGGCAATGG	0.657000														98			17		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721946	721946	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721946C>T	uc002cip.3	+	12	1158	c.1041C>T	c.(1039-1041)cgC>cgT	p.R347R	RHOT2_uc002ciq.3_Silent_p.R240R|RHOT2_uc010bqy.3_Silent_p.R126R	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	347					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				AGCTCCCACGCACAGTCCGCA	0.701000														270			60		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35065452	35065452	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065452C>T	uc003jjm.3	-	9	2167	c.1608G>A	c.(1606-1608)aaG>aaA	p.K536K	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.K435K|PRLR_uc021xxl.1_Missense_Mutation_p.A346T	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	536					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GAGTCCCGGGCTTCTTGGGCT	0.488000														123			14		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56389920	56389920	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56389920G>A	uc002ivx.4	-	16	3133	c.2262C>T	c.(2260-2262)agC>agT	p.S754S	BZRAP1_uc010dcs.3_Silent_p.S694S|BZRAP1_uc010wnt.2_Silent_p.S754S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	754						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTGGCCCCCGCTACTGCTGC	0.642000														159			41		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47040450	47040450	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47040450C>T	uc003cqp.3	+	24	3564	c.3385_splice	c.e24-1	p.A1129_splice	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1129							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CATCCCCAGGCGGTGGGTGCG	0.657000											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			10		0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	15063814	15063814	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15063814C>T	uc021pni.1	-	0	49	c.6G>A	c.(4-6)aaG>aaA	p.K2K	ACBD7_uc010qby.1_5'UTR	NM_022487	NP_071932	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant b, mRNA.	0					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCTCCTGATGCTTCATCCACT	0.299000								Non-homologous end-joining						60			9		0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618211	37618211	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37618211T>G	uc002ofl.3	+	4	533	c.318T>G	c.(316-318)taT>taG	p.Y106*		NM_144689	NP_653290	Q8TAQ5	ZN420_HUMAN	Homo sapiens zinc finger protein 420 (ZNF420), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAAGGAATATTTCAGGCAAG	0.373000														85			11		0	0	1	0	0
GRIPAP1	56850	broad.mit.edu	37	X	48840196	48840196	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48840196C>T	uc004dly.1	-	14	1298	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E	GRIPAP1_uc004dlz.3_Silent_p.E311E|GRIPAP1_uc004dma.3_Silent_p.E368E	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	421						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CCTTCCGAGCCTCCTGTAATT	0.517000														158			35		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157514222	157514222	+	Missense_Mutation	SNP	C	T	T	rs138632023		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157514222C>T	uc009wsm.3	-	4	832	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	FCRL5_uc001fqu.3_Missense_Mutation_p.R225Q|FCRL5_uc010phv.1_Missense_Mutation_p.R225Q|FCRL5_uc010phw.1_Missense_Mutation_p.R140Q|FCRL5_uc001fqv.1_Missense_Mutation_p.R225Q|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	225	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GAAGCGGAACCGGAGCGGGAC	0.562000														299			58		0	0	1	0	0
JUND	3727	broad.mit.edu	37	19	18391375	18391375	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18391375T>C	uc002nip.2	-	0	1058	c.920A>G	c.(919-921)aAc>aGc	p.N307S	MIR3188_uc021uqm.1_5'Flank	NM_005354	NP_005345	P17535	JUND_HUMAN	Homo sapiens jun D proto-oncogene (JUND), mRNA.	307	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			lung(2)|prostate(1)	3						CAGCTCCGTGTTCTGACTCTT	0.652000														76			23		0	0	1	0	0
TBX18	9096	broad.mit.edu	37	6	85473690	85473690	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:85473690G>A	uc003pkl.1	-	0	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D	TBX18_uc010kbq.2_5'Flank	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	70					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CAGCGCCTTCGTCTCCCTCAG	0.756000														20			10		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197431544	197431544	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431544C>A	uc003fyc.2	-	3	515	c.332G>T	c.(331-333)aGc>aTc	p.S111I	KIAA0226_uc003fyd.3_Missense_Mutation_p.S51I|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Missense_Mutation_p.S104I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	111	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ATCAGCACTGCTCTGGTCGTT	0.587000														126			27		2.44723e-14	2.87423e-14	1	1	0
ARIH1	25820	broad.mit.edu	37	15	72875582	72875582	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72875582G>T	uc002aut.4	+	13	1937	c.1623G>T	c.(1621-1623)caG>caT	p.Q541H		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	541					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TTTTGTTACAGCATGTGCATG	0.373000														81			9		2.17888e-05	2.28139e-05	1	1	0
CIC	23152	broad.mit.edu	37	19	42795086	42795086	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42795086G>A	uc002otf.1	+	9	2206	c.2166G>A	c.(2164-2166)ccG>ccA	p.P722P		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	722	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCTCCCCGCTGGGTGTCA	0.647000			"""Mis, F, S"""		oligodendroglioma									82			15		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63916522	63916522	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63916522C>T	uc002amp.3	-	71	13428	c.13280G>A	c.(13279-13281)aGc>aAc	p.S4427N		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4427					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATGGGATGTGCTGTTCTGTAA	0.423000														123			18		0	0	1	0	0
HSD17B4	3295	broad.mit.edu	37	5	118867031	118867031	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118867031T>C	uc003ksj.3	+	21	2058	c.1925T>C	c.(1924-1926)gTg>gCg	p.V642A	HSD17B4_uc011cwh.2_Missense_Mutation_p.V624A|HSD17B4_uc011cwg.2_Missense_Mutation_p.V618A|HSD17B4_uc011cwi.2_Missense_Mutation_p.V667A|HSD17B4_uc003ksk.4_Missense_Mutation_p.V495A|HSD17B4_uc011cwj.2_Missense_Mutation_p.V495A|HSD17B4_uc010jcn.2_Missense_Mutation_p.V380A	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	642	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GGGCCTGAGGTGGTGAAGAAA	0.393000														81			15		0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120984244	120984244	+	Missense_Mutation	SNP	G	A	A	rs111483466		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120984244G>A	uc001typ.4	+	1	677	c.194G>A	c.(193-195)cGc>cAc	p.R65H	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_5'UTR	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	65	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTTATAATCGCAAACGTGAA	0.418000														119			37		0	0	1	0	0
SCGB2A1	4246	broad.mit.edu	37	11	61977935	61977935	+	Missense_Mutation	SNP	G	A	A	rs145763601	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61977935G>A	uc001nta.2	+	1	170	c.106G>A	c.(106-108)Gac>Aac	p.D36N		NM_002407	NP_002398	O75556	SG2A1_HUMAN	Homo sapiens secretoglobin, family 2A, member 1 (SCGB2A1), mRNA.	36						extracellular region	androgen binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						CATCAATTCCGACATATCTAT	0.403000														152			26		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72435964	72435964	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72435964C>A	uc002jkp.3	+	1	695	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	GPRC5C_uc002jkq.3_Missense_Mutation_p.L62M|GPRC5C_uc002jkr.3_Missense_Mutation_p.L29M|GPRC5C_uc002jkt.3_Missense_Mutation_p.L17M	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	17						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCTCTCTTCCTGTTCCCAGG	0.642000														120			34		9.65963e-10	1.07874e-09	1	1	0
SMARCD2	6603	broad.mit.edu	37	17	61910761	61910761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910761G>A	uc010deb.1	-	10	1654	c.1337C>T	c.(1336-1338)tCc>tTc	p.S446F	SMARCD2_uc010wpt.1_Missense_Mutation_p.S398F|SMARCD2_uc010dea.1_Missense_Mutation_p.S371F	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	446					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CTGGTTGATGGACTCAATGGT	0.552000														150			39		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554912	150554912	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554912C>T	uc003why.1	+	2	5572	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	ABP1_uc003whz.1_Silent_p.L452L|ABP1_uc003wia.1_Silent_p.L452L	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	452					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GGTGCTGGTGCTGCGGACAAC	0.512000														129			21		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140249981	140249981	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140249981G>A	uc003lia.2	+	0	2151	c.1293G>A	c.(1291-1293)tcG>tcA	p.S431S	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_uc011dae.2_Silent_p.S431S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGGGGTTCGCCTTCTCTGT	0.622000														445			99		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87017995	87017995	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87017995G>A	uc003dqn.3	-	2	1046	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	228	His-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.R228W(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TGGTGGTGCCGCATGTACACG	0.612000														159			30		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155629498	155629498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155629498C>T	uc010pgi.2	-	9	2809	c.2617G>A	c.(2617-2619)Gtc>Atc	p.V873I	GON4L_uc021paz.1_Missense_Mutation_p.V715I|GON4L_uc010pgg.2_Missense_Mutation_p.V620I|GON4L_uc010pgh.2_Missense_Mutation_p.V724I|GON4L_uc009wqt.3_Missense_Mutation_p.V704I|GON4L_uc001flh.3_Missense_Mutation_p.V853I|GON4L_uc001fll.3_Missense_Mutation_p.V735I|GON4L_uc001flk.3_Missense_Mutation_p.V724I|GON4L_uc001flm.3_Missense_Mutation_p.V724I|GON4L_uc009wqu.3_Missense_Mutation_p.V568I|GON4L_uc009wqv.3_Missense_Mutation_p.V452I|GON4L_uc009wqw.3_Missense_Mutation_p.V704I|GON4L_uc001flj.3_Missense_Mutation_p.V715I|GON4L_uc001fli.3_Missense_Mutation_p.V735I|GON4L_uc001flo.3_Missense_Mutation_p.V669I|GON4L_uc001fln.3_Missense_Mutation_p.V781I|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.V735I	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1325					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCCATCTTGACAACTTCCTCT	0.512000														261			47		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7811277	7811277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7811277C>T	uc002gjd.2	+	33	5271	c.5269C>T	c.(5269-5271)Cga>Tga	p.R1757*	CHD3_uc002gje.2_Nonsense_Mutation_p.R1698*|CHD3_uc002gjf.2_Nonsense_Mutation_p.R1664*|CHD3_uc002gjh.2_Nonsense_Mutation_p.R275*|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1698	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATGGGCGACGAGAGGAAAA	0.557000														164			34		0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45633697	45633697	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45633697C>T	uc002xsm.3	+	3	646	c.272C>T	c.(271-273)gCa>gTa	p.A91V	EYA2_uc010ghp.3_Missense_Mutation_p.A91V|EYA2_uc002xsq.3_Missense_Mutation_p.A91V	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	91					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCACCTCCAGCACAAGCCTAT	0.552000														120			19		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85969592	85969592	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85969592C>A	uc004eew.2	+	5	1143	c.973C>A	c.(973-975)Cca>Aca	p.P325T	DACH2_uc004eex.2_Missense_Mutation_p.P312T|DACH2_uc010nmq.2_Missense_Mutation_p.P191T|DACH2_uc011mra.1_Missense_Mutation_p.P158T|DACH2_uc010nmr.2_Missense_Mutation_p.P106T|DACH2_uc004eey.3_Missense_Mutation_p.P8T|DACH2_uc004eez.3_Missense_Mutation_p.P8T	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.L324H(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TCCCCTACTTCCAGTCAGCTT	0.413000														165			42		1.32136e-16	1.5779e-16	1	1	0
SP2	6668	broad.mit.edu	37	17	45994216	45994216	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45994216C>A	uc002imk.3	+	2	916	c.779C>A	c.(778-780)gCt>gAt	p.A260D	SP2_uc002iml.3_Missense_Mutation_p.A253D|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	260					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CCCCCTGTGGCTGTGGCTGAG	0.592000														334			62		2.53126e-37	3.21239e-37	1	1	0
IL16	3603	broad.mit.edu	37	15	81592491	81592491	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81592491C>T	uc021ssh.1	+	12	2925	c.2824C>T	c.(2824-2826)Cta>Tta	p.L942L	IL16_uc010blq.1_Silent_p.L896L|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.L984L|IL16_uc002bgg.3_Silent_p.L942L|IL16_uc002bgi.1_Silent_p.L332L|IL16_uc002bgj.3_Silent_p.L436L|IL16_uc021ssi.1_Silent_p.L241L|IL16_uc002bgl.1_Silent_p.L241L|IL16_uc010unq.1_Silent_p.L241L	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	942				LRL -> PRE (in Ref. 4).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGACCCGCTCCTAAGGCTGCT	0.652000														103			29		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231077540	231077540	+	Silent	SNP	C	T	T	rs114550400	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231077540C>T	uc002vqg.3	-	3	759	c.519G>A	c.(517-519)tcG>tcA	p.S173S	SP110_uc002vqh.3_Silent_p.S173S|SP110_uc002vqi.4_Silent_p.S173S|SP110_uc010fxk.3_Silent_p.S173S|SP110_uc021vxx.1_Silent_p.S179S	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	173			S -> L (in dbSNP:rs41552315).		interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGGGCTGGGCGACTCACTCA	0.562000														314			57		0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20652292	20652292	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20652292G>A	uc001mqd.3	+	9	1828	c.1555G>A	c.(1555-1557)Gtc>Atc	p.V519I	SLC6A5_uc009yic.3_Missense_Mutation_p.V284I	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	519					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.V519I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGCCGGCTTCGTCATCTTCTC	0.498000														180			40		0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20102597	20102597	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20102597A>T	uc003ncx.1	-	12	1613	c.1408T>A	c.(1408-1410)Ttt>Att	p.F470I	MBOAT1_uc011dji.1_Missense_Mutation_p.F321I	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	470					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATTGGCAGAAATAGTATTATC	0.353000														106			23		0	0	1	0	0
ZNF440	126070	broad.mit.edu	37	19	11942469	11942469	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11942469A>G	uc002msp.1	+	3	634	c.478A>G	c.(478-480)Aga>Gga	p.R160G	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCCTCCTTTAGAACACAAGA	0.413000														230			45		0	0	1	0	0
BPIFA2	140683	broad.mit.edu	37	20	31768402	31768402	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31768402T>C	uc002wyo.1	+	8	858	c.787_splice	c.e8+1			NM_080574	NP_542141	Q96DR5	SPLC2_HUMAN	Homo sapiens BPI fold containing family A, member 2 (BPIFA2), mRNA.							extracellular region	lipid binding										TGGTGCATGCTGGTGAGGAGC	0.488000														86			13		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92647576	92647576	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92647576C>T	uc002bqx.2	+	3	1014	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SLCO3A1_uc002bqy.2_Silent_p.C271C|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.C213C	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	271					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TTCTGCTCTGCGGTGCCTTAC	0.577000														359			37		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110152	140110152	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110152G>A	uc004clx.3	+	10	1441	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	NDOR1_uc004clw.3_Missense_Mutation_p.A444T|NDOR1_uc011mes.2_Missense_Mutation_p.A437T|NDOR1_uc004cly.3_Missense_Mutation_p.A410T	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	444	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGGAGTCTGGCCTTCCCAGA	0.642000														171			36		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35725685	35725685	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35725685C>T	uc003zxt.2	-	1	361	c.7G>A	c.(7-9)Gca>Aca	p.A3T	TLN1_uc003zxu.4_Missense_Mutation_p.A3T	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	3					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTGAAAGTGCAACCATGGTG	0.532000														336			61		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220356957	220356957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220356957C>T	uc010fwg.3	+	39	9586	c.9586C>T	c.(9586-9588)Cga>Tga	p.R3196*		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3196	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.R3196*(2)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCTCTTCTTGCGAAAGGTTCT	0.607000														118			44		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44582471	44582471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44582471G>A	uc002xqw.3	-	17	2682	c.2559C>T	c.(2557-2559)ggC>ggT	p.G853G	ZNF335_uc002xqv.3_5'UTR|ZNF335_uc010zxk.2_Silent_p.G698G	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCACCGCCCCCTGGCT	0.642000														86			23		0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5015937	5015937	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5015937T>G	uc011jwe.2	+	1		c.183T>G			RBAK_uc003snp.4_Non-coding_Transcript|RBAK_uc003snq.4_Non-coding_Transcript|RBAK_uc010ksr.3_Non-coding_Transcript			Q9NYW8	RBAK_HUMAN	Homo sapiens ring finger protein 216 pseudogene 1 (RNF216P1), transcript variant 3, non-coding RNA.						negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TTCAGCTCTTTTGAAACAGAT	0.408000														56			10		0	0	1	0	0
MS4A12	54860	broad.mit.edu	37	11	60271185	60271185	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60271185C>T	uc001npr.3	+	4	540	c.483C>T	c.(481-483)agC>agT	p.S161S	MS4A12_uc021qkb.1_Silent_p.S115S	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	161						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TGAAAGGCAGCCTGGGAATGA	0.408000														68			23		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171070913	171070913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171070913G>A	uc002ufy.3	+	3	489	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_uc002ufv.3_Missense_Mutation_p.E103K|MYO3B_uc010fqb.1_Missense_Mutation_p.E116K|MYO3B_uc002ufz.3_Missense_Mutation_p.E116K|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.E103K	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	116	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCAGTCACTGAGCTTGTCAA	0.453000														124			27		0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145661	15145661	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15145661C>T	uc001iny.4	+	2	1061	c.348C>T	c.(346-348)ggC>ggT	p.G116G	RPP38_uc009xjm.3_Silent_p.G116G|RPP38_uc001inx.4_Silent_p.G116G|RPP38_uc021pnk.1_Silent_p.G116G	NM_183005	NP_892117	P78345	RPP38_HUMAN	Homo sapiens ribonuclease P/MRP 38kDa subunit (RPP38), transcript variant 1, mRNA.	116					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TTGCCATTGGCGTTAACGAAG	0.483000														101			18		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164781364	164781364	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164781364G>A	uc001gct.3	+	5	1438	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PBX1_uc010pku.2_Silent_p.S325S|PBX1_uc001gcs.3_Silent_p.S325S|PBX1_uc010pkv.2_Silent_p.S242S|PBX1_uc010pkw.1_Silent_p.S215S	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	325					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AAGCTAACTCGCCCTCAACTC	0.443000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									72			23		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566533	73566533	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566533G>T	uc002joh.3	+	15	2133	c.1979G>T	c.(1978-1980)aGc>aTc	p.S660I	LLGL2_uc002joi.3_Missense_Mutation_p.S660I|LLGL2_uc010dgg.2_Missense_Mutation_p.S660I|LLGL2_uc002joj.3_Missense_Mutation_p.S649I|LLGL2_uc010wsd.2_Missense_Mutation_p.S287I	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	660					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ATGCGTCGGAGCCGGGTGTCC	0.692000														29			4		0.00909568	0.00920877	1	1	0
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149447C>T	uc003jmk.2	-	16	2729	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_uc003jml.1_Missense_Mutation_p.G840D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	840	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418000														230			49		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	32902714	32902714	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32902714C>T	uc001wrq.3	+	1	185	c.15C>T	c.(13-15)agC>agT	p.S5S	AKAP6_uc010aml.3_Silent_p.S2S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	5					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)		TAACCATGAGCGTGACACTTT	0.493000														92			11		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721298	222721298	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222721298A>G	uc001hnh.1	-	0	147	c.89T>C	c.(88-90)aTa>aCa	p.I30T		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	30					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAACAAGAATATGAGGCAGAG	0.592000														95			16		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937820	12937820	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12937820C>A	uc004cvd.3	+	2	885	c.715C>A	c.(715-717)Cca>Aca	p.P239T	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.P221T	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	221					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCCAAACTGCCAAGCTCCCT	0.368000														119			28		8.24728e-16	9.79314e-16	1	1	0
BLM	641	broad.mit.edu	37	15	91347508	91347508	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91347508G>T	uc002bpr.3	+	18	3767	c.3670G>T	c.(3670-3672)Gaa>Taa	p.E1224*	BLM_uc010uqh.2_Nonsense_Mutation_p.E1224*|BLM_uc010uqi.2_Nonsense_Mutation_p.E849*|BLM_uc010bnx.3_Intron	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1224	HRDC.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGAACTTACAGAAGTCTGCAA	0.388000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					153			38		5.20837e-25	6.48422e-25	1	1	0
NAALADL1	10004	broad.mit.edu	37	11	64825602	64825602	+	Silent	SNP	G	A	A	rs144528264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64825602G>A	uc001ocn.3	-	1	322	c.306C>T	c.(304-306)taC>taT	p.Y102Y	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	102					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.T101R(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GCAGCACTTCGTACGTGGAGG	0.667000														135			44		0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35685748	35685748	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685748G>A	uc003zxq.3	-	2	509	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TPM2_uc003zxs.3_Silent_p.R90R|TPM2_uc010mkz.3_Silent_p.R90R|TPM2_uc011lpa.2_Silent_p.R90R	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	90					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	p.R90H(1)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGAATGCGGCGGTTCAGGG	0.622000														158			34		0	0	1	0	0
PTPLB	201562	broad.mit.edu	37	3	123219521	123219521	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123219521G>T	uc003egj.2	-	5	573	c.523C>A	c.(523-525)Ctg>Atg	p.L175M		NM_198402	NP_940684	Q6Y1H2	HACD2_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member b (PTPLB), mRNA.	175					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein binding			kidney(2)	2				GBM - Glioblastoma multiforme(114;0.1)		ATTGGGTACAGCACAATGAAA	0.418000														57			8		1.12685e-05	1.18529e-05	1	1	0
CPNE4	131034	broad.mit.edu	37	3	131274360	131274360	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131274360C>A	uc011blq.2	-	11	1261	c.1151G>T	c.(1150-1152)aGg>aTg	p.R384M	CPNE4_uc003eok.3_Missense_Mutation_p.R366M|CPNE4_uc003eol.3_Missense_Mutation_p.R384M|CPNE4_uc003eom.3_Missense_Mutation_p.R366M	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	366	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGGAGGTATCCTGGCGCCAAA	0.418000														40			9		7.48243e-07	8.00842e-07	1	1	0
COBRA1	25920	broad.mit.edu	37	9	140167012	140167012	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140167012G>A	uc004cmm.4	+	11	1744	c.1541G>A	c.(1540-1542)aGg>aAg	p.R514K		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	514					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CTGCACCCCAGGGTGGCCCCG	0.687000														39			10		0	0	1	0	0
FOPNL	123811	broad.mit.edu	37	16	15982427	15982427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15982427C>T	uc002dec.1	-	0	21	c.16G>A	c.(16-18)Gag>Aag	p.E6K	FOPNL_uc002ded.1_Missense_Mutation_p.E6K	NM_144600	NP_653201	Q96NB1	FOPNL_HUMAN	Homo sapiens FGFR1OP N-terminal like (FOPNL), mRNA.	6	Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites.				cilium assembly|microtubule anchoring	centriolar satellite|microtubule basal body|motile cilium	identical protein binding			breast(1)|large_intestine(1)|lung(5)|stomach(4)	11						GCCTTCAACTCTGCCACAGTC	0.657000														131			24		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602828	138602828	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602828C>T	uc011kql.2	-	1	1593	c.1544G>A	c.(1543-1545)aGt>aAt	p.S515N	KIAA1549_uc011kqj.2_Missense_Mutation_p.S515N	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	515	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGTTGTAACACTACTCATATC	0.532000			O	BRAF	pilocytic astrocytoma									40			7		0	0	1	0	0
NR4A1	3164	broad.mit.edu	37	12	52450400	52450400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52450400C>T	uc001rzs.3	+	4	1448	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	NR4A1_uc010sno.2_Missense_Mutation_p.P390S|NR4A1_uc001rzt.3_Missense_Mutation_p.P377S|NR4A1_uc009zmc.3_Silent_p.G19G	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	377					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGACTCAGGGCCCAGCACTGC	0.627000														184			38		0	0	1	0	0
SRRM1	10250	broad.mit.edu	37	1	24997983	24997983	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24997983C>T	uc001bjm.3	+	15	2731	c.2507C>T	c.(2506-2508)gCt>gTt	p.A836V	SRRM1_uc010oel.2_Missense_Mutation_p.A848V|SRRM1_uc009vri.1_Missense_Mutation_p.A765V	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	836	Ala-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		aagGAAAAGgctgtggctgca	0.498000														68			9		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459850	1459850	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1459850C>T	uc002qwr.3	+	6	701	c.615C>T	c.(613-615)gtC>gtT	p.V205V	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.V205V|TPO_uc002qwx.3_Silent_p.V205V|TPO_uc002qwu.3_Silent_p.V205V|TPO_uc010yio.2_Silent_p.V205V|TPO_uc010yip.2_Silent_p.V205V	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	205					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTACCCAGGTCCGGGAGGTGA	0.498000														41			15		0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94619986	94619986	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94619986G>A	uc003kkx.2	-	0	294	c.294C>T	c.(292-294)aaC>aaT	p.N98N		NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	98					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AGCAGCACAGGTTGGGCTGCG	0.701000														139			40		0	0	1	0	0
FAM110B	90362	broad.mit.edu	37	8	59059135	59059135	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59059135C>T	uc022auu.1	+	0	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L	FAM110B_uc003xtj.1_Silent_p.L116L	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	116						microtubule organizing center|mitochondrion|nucleus		p.L116M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GAGGGAGAACCTGAAGCTGGA	0.662000														90			15		0	0	1	0	0
C9	735	broad.mit.edu	37	5	39341328	39341328	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39341328A>C	uc003jlv.4	-	3	485	c.396T>G	c.(394-396)gaT>gaG	p.D132E		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	132	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTTCACAATCATCCTCATCTG	0.478000														175			12		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085613	17085613	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17085613G>A	uc010ock.2	-	8	1108	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					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						ACACCCTTGCGGGTCTTGCTG	0.736000														171			9		0	0	1	0	0
SLC17A5	26503	broad.mit.edu	37	6	74325115	74325115	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74325115G>T	uc003phn.4	-	7	1162	c.1034C>A	c.(1033-1035)tCt>tAt	p.S345Y	SLC17A5_uc010kax.3_Missense_Mutation_p.S4Y|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.S214Y	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	345					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTTGACCAGACAGGATCAT	0.358000														64			14		6.31663e-08	6.86475e-08	1	1	0
FCGR2C	9103	broad.mit.edu	37	1	161569520	161569520	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161569520G>T	uc021pdi.1	+	6		c.998G>T				NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTGAACCCCAGGGCACCTACT	0.458000														138			11		7.03913e-09	7.75971e-09	1	1	0
AASS	10157	broad.mit.edu	37	7	121726195	121726195	+	Silent	SNP	G	A	A	rs145793131		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121726195G>A	uc003vka.3	-	17	2151	c.2055C>T	c.(2053-2055)gcC>gcT	p.A685A	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.A685A|AASS_uc011knw.2_Silent_p.A173A	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	685	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGGACGTAACGGCATCAAGAA	0.423000														50			11		0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38910676	38910676	+	Silent	SNP	G	A	A	rs146092638		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38910676G>A	uc002hve.3	-	1	535	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	158	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TGGCATTATCGATCTGCAGAA	0.388000														108			19		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701981	181701981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701981G>A	uc009wxt.3	+	19	2954	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	CACNA1E_uc001gow.3_Missense_Mutation_p.R920H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R901H|CACNA1E_uc001gox.1_Missense_Mutation_p.R146H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	920					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R920S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGCCAACGGCGCAGCCGGCAT	0.652000														268			54		0	0	1	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204378920	204378920	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204378920T>G	uc001hav.4	-	0	2025	c.1620A>C	c.(1618-1620)gaA>gaC	p.E540D		NM_032833	NP_116222	Q5SWA1	PR15B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA.	540					regulation of translation			p.E540D(2)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			CCCAGTCATCTTCCTCCCCAG	0.458000														63			30		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643069	207643069	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643069C>T	uc001hfw.3	+	5	966	c.847C>T	c.(847-849)Ctc>Ttc	p.L283F	CR2_uc001hfv.3_Missense_Mutation_p.L283F|CR2_uc009xch.3_Missense_Mutation_p.L283F|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	283	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCCCCTATTCTCAATGGAAG	0.428000														120			16		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151144795	151144795	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151144795G>T	uc011eem.1	+	13	1718	c.1630G>T	c.(1630-1632)Gca>Tca	p.A544S	PLEKHG1_uc011eel.1_Missense_Mutation_p.A525S|PLEKHG1_uc003qny.1_Missense_Mutation_p.A485S|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A485S	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	485					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCAGAAACAGCACAAGACAT	0.338000														33			5		0.0215528	0.0217347	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101560474	101560474	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101560474C>A	uc001thz.4	-	11	1714	c.1324G>T	c.(1324-1326)Gca>Tca	p.A442S		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	442					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCAACAAGTGCTCCCTGTAAA	0.368000														32			5		0.000602214	0.000618135	1	1	0
DPYD	1806	broad.mit.edu	37	1	97771751	97771751	+	Missense_Mutation	SNP	C	T	T	rs145548112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97771751C>T	uc001drv.3	-	16	2298	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	721					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GCAGCTCTTGCGATGCTCACA	0.458000														234			55		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35260722	35260722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35260722C>T	uc009vul.3	+	1	1160	c.1136C>T	c.(1135-1137)tCc>tTc	p.S379F	GJA4_uc001bya.3_Missense_Mutation_p.S303F|GJA4_uc009vum.1_Missense_Mutation_p.S303F|GJA4_uc021olb.1_Missense_Mutation_p.S303F	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	303					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CTGGCGTCTTCCAGGCCCCCT	0.602000														70			10		0	0	1	0	0
LIN54	132660	broad.mit.edu	37	4	83861050	83861050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83861050C>T	uc003hnx.3	-	5	1612	c.1234G>A	c.(1234-1236)Gtc>Atc	p.V412I	LIN54_uc003hnz.3_Missense_Mutation_p.V191I|LIN54_uc003hny.3_Missense_Mutation_p.V11I|LIN54_uc010ijt.2_Missense_Mutation_p.V323I|LIN54_uc010iju.2_Missense_Mutation_p.V11I|LIN54_uc010ijv.2_Missense_Mutation_p.V191I	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	412					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTTGTTTGACAGCCTGAGCT	0.343000														136			34		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90463282	90463282	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90463282C>A	uc003pnn.1	-	21	3140	c.3024G>T	c.(3022-3024)aaG>aaT	p.K1008N	MDN1_uc003pno.1_Missense_Mutation_p.K427N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1008					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACAGATGAGCTTCTGAACTA	0.378000														108			24		5.61819e-17	6.72451e-17	1	1	0
PCNT	5116	broad.mit.edu	37	21	47851714	47851714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851714G>A	uc002zji.4	+	37	8443	c.8336G>A	c.(8335-8337)tGc>tAc	p.C2779Y	PCNT_uc002zjj.3_Missense_Mutation_p.C2661Y	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2779					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.C2779C(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGGAGGCTTGCGTGCACCAG	0.627000														70			7		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133220118	133220118	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133220118T>C	uc001uks.1	-	33	4363	c.4319A>G	c.(4318-4320)cAc>cGc	p.H1440R	POLE_uc001ukq.1_5'Flank|POLE_uc001ukr.1_Missense_Mutation_p.H244R|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.H1413R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1440					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACAGCCCAGGTGCACCAGGGC	0.607000								DNA polymerases (catalytic subunits)						360			71		0	0	1	0	0
STRN3	29966	broad.mit.edu	37	14	31416418	31416418	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31416418C>A	uc001wqu.2	-	4	810	c.594G>T	c.(592-594)caG>caT	p.Q198H	STRN3_uc001wqv.2_Missense_Mutation_p.Q198H|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	198					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACCTTACCCGCTGAGACCGTA	0.358000														114			19		3.62473e-10	4.06567e-10	1	1	0
ECSCR	641700	broad.mit.edu	37	5	138837382	138837382	+	Silent	SNP	G	A	A	rs147720581	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138837382G>A	uc011cze.1	-	2	182	c.117C>T	c.(115-117)ggC>ggT	p.G39G		NM_001077693	NP_001071161	Q19T08	ECSCR_HUMAN	Homo sapiens endothelial cell-specific chemotaxis regulator (ECSCR), mRNA.	39					angiogenesis|cell differentiation|chemotaxis	integral to membrane|plasma membrane											GACTTAGACCGCCAAGGCCTC	0.557000														22			6		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870871	51870871	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870871G>A	uc002xwo.3	+	1	1761	c.874G>A	c.(874-876)Gtc>Atc	p.V292I	TSHZ2_uc021wex.1_Missense_Mutation_p.V289I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	292					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGATTTGAGCGTCCACATGAT	0.438000														84			25		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56679270	56679270	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56679270C>T	uc010dcz.2	-	12	1711	c.1593G>A	c.(1591-1593)gtG>gtA	p.V531V	TEX14_uc002iwr.2_Silent_p.V525V|TEX14_uc002iws.2_Silent_p.V525V|TEX14_uc010dda.2_Silent_p.V305V	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	531						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CGTATCTCTGCACTCTGGGGC	0.458000														117			21		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53040535	53040535	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53040535G>A	uc001sat.3	-	6	1491	c.1458C>T	c.(1456-1458)ggC>ggT	p.G486G		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	486	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCACTCCTCGCCCTCCAGCA	0.622000														240			17		0	0	1	0	0
FAM116B	414918	broad.mit.edu	37	22	50752138	50752138	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50752138G>A	uc011arv.1	-	14	1291	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	Homo sapiens family with sequence similarity 116, member B (FAM116B), mRNA.	407										endometrium(1)|kidney(1)|lung(2)|skin(1)	5		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGACGGCCGCTTCTTCTGC	0.687000														23			6		0	0	1	0	0
S1PR5	53637	broad.mit.edu	37	19	10625429	10625429	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10625429C>T	uc021uox.1	-	0	259	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	S1PR5_uc002mot.2_Missense_Mutation_p.A87T|S1PR5_uc002mou.2_Missense_Mutation_p.A87T	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	87						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						GCGTAGGCGGCGCCTGCCAGC	0.662000														56			9		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569448	58569448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569448G>A	uc002ybe.3	+	10	1881	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	CDH26_uc002ybf.1_Missense_Mutation_p.D104N|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	524					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			CGAGGCAGAGGATCCGGACCT	0.547000														112			8		0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931214	73931214	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73931214T>C	uc003kdc.4	-	1	2228	c.1097A>G	c.(1096-1098)gAg>gGg	p.E366G	ENC1_uc011css.2_Missense_Mutation_p.E293G|ENC1_uc021yao.1_Missense_Mutation_p.E366G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	366					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GGACCACTCCTCGTGCAGGGT	0.567000														171			46		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52558576	52558576	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52558576C>T	uc003den.3	-	13	1624	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	NT5DC2_uc003dem.3_Silent_p.P361P|NT5DC2_uc010hmi.3_Silent_p.P503P|NT5DC2_uc010hmj.3_Silent_p.P307P|NT5DC2_uc003deo.3_Silent_p.P491P	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	491							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CGTGCTGCAGCGGCGTACGGC	0.627000														179			32		0	0	1	0	0
NDNL2	56160	broad.mit.edu	37	15	29561540	29561540	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29561540G>A	uc001zco.3	-	0	481	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	FAM189A1_uc010azk.1_Intron	NM_138704	NP_619649	Q96MG7	MAGG1_HUMAN	Homo sapiens necdin-like 2 (NDNL2), mRNA.	124	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AAGAGGTCGGGGAAGATGTCC	0.532000														201			32		0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635273	33635273	+	Missense_Mutation	SNP	C	T	T	rs141695559		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33635273C>T	uc001uus.3	+	3	2065	c.2057C>T	c.(2056-2058)aCg>aTg	p.T686M	KL_uc001uur.1_3'UTR	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	686	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CTTTGGATAACGATGAATGAG	0.527000														108			26		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	376229	376229	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:376229C>A	uc003zgf.2	+	18	2241	c.2129C>A	c.(2128-2130)cCt>cAt	p.P710H	DOCK8_uc022bcu.1_Missense_Mutation_p.P642H|DOCK8_uc010mgv.3_Missense_Mutation_p.P642H|DOCK8_uc010mgu.3_Missense_Mutation_p.P12H|DOCK8_uc010mgw.2_Missense_Mutation_p.P12H|DOCK8_uc003zgk.2_Missense_Mutation_p.P168H|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	710					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TTACAGAATCCTCCCATTAAG	0.373000														112			30		1.55811e-20	1.90328e-20	1	1	0
SAMHD1	25939	broad.mit.edu	37	20	35563450	35563450	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563450C>T	uc002xgh.2	-	3	691	c.491G>A	c.(490-492)cGa>cAa	p.R164Q		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	164	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATGCTCAAATCGATTGTGTGA	0.428000														99			22		0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71978503	71978503	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71978503C>T	uc001swl.3	+	17	2761	c.2713C>T	c.(2713-2715)Cca>Tca	p.P905S	LGR5_uc001swm.3_Missense_Mutation_p.P881S|LGR5_uc021rar.1_Missense_Mutation_p.P833S|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	905						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGCATTTGTCCCATGTCTCTA	0.428000														158			36		0	0	1	0	0
GAL3ST3	89792	broad.mit.edu	37	11	65811009	65811009	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65811009G>A	uc001ogv.3	-	1	425	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GAL3ST3_uc001ogw.3_Missense_Mutation_p.R89C	NM_033036	NP_149025	Q96A11	G3ST3_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 3 (GAL3ST3), mRNA.	89					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGGTTGTGGCGCTCGGCAAAG	0.662000														120			10		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338418	50338418	+	Missense_Mutation	SNP	G	A	A	rs79253515		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50338418G>A	uc002egd.1	+	9	1784	c.1516G>A	c.(1516-1518)Gtg>Atg	p.V506M	ADCY7_uc002egb.1_Missense_Mutation_p.V506M|ADCY7_uc002egc.2_Missense_Mutation_p.V506M	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	506					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCGTGAGAGCGTGAGCAGTGG	0.677000														186			40		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122619695	122619695	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122619695C>A	uc021pzt.1	+	3	673	c.427C>A	c.(427-429)Ctc>Atc	p.L143I	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	143						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTACATTGTGCTCTGGAATGC	0.433000														112			27		1.17739e-12	1.36172e-12	1	1	0
SUCLA2	8803	broad.mit.edu	37	13	48528619	48528619	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48528619C>A	uc001vbs.3	-	6	933	c.876G>T	c.(874-876)caG>caT	p.Q292H	SUCLA2_uc010tgb.2_Missense_Mutation_p.Q232H|SUCLA2_uc010tgc.2_Missense_Mutation_p.Q158H|SUCLA2_uc010tgd.2_Missense_Mutation_p.Q232H	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	292					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GGGTCCAGTCCTGTAGATCAA	0.403000														88			29		5.77227e-19	6.99363e-19	1	1	0
BDH1	622	broad.mit.edu	37	3	197241204	197241204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197241204C>T	uc003fxr.3	-	6	895	c.493G>A	c.(493-495)Gca>Aca	p.A165T	BDH1_uc003fxs.3_Missense_Mutation_p.A165T|BDH1_uc003fxu.3_Missense_Mutation_p.A165T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	165					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TTCACTTCTGCCACCTGCTTG	0.592000														159			14		0	0	1	0	0
UBR1	197131	broad.mit.edu	37	15	43351939	43351939	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43351939G>A	uc001zqq.3	-	7	1012	c.946C>T	c.(946-948)Cgt>Tgt	p.R316C	UBR1_uc010udk.1_Missense_Mutation_p.R316C	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	316					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GAACCAAGACGCAAAGCAAAT	0.348000														51			15		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155487037	155487037	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487037G>A	uc003ioa.4	+	1	231	c.192G>A	c.(190-192)ccG>ccA	p.P64P	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	64			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTGCCCCACCGCCCATCAGTG	0.557000														122			17		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74570255	74570255	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74570255G>A	uc009yub.3	-	11	1426	c.1094C>T	c.(1093-1095)aCg>aTg	p.T365M	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.3_Intron|XRRA1_uc001ovo.3_Intron|XRRA1_uc001ovp.4_Intron|XRRA1_uc001ovq.4_Intron|XRRA1_uc001ovr.2_Intron|XRRA1_uc001ovt.2_Silent_p.D118D|XRRA1_uc001ovs.1_Intron	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	365					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGGGCCAGCGTCTGGTTCCT	0.498000														20			8		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620467	26620467	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620467G>A	uc001mqt.4	+	15	1738	c.1593G>A	c.(1591-1593)acG>acA	p.T531T	ANO3_uc010rdr.2_Silent_p.T515T|ANO3_uc010rds.2_Silent_p.T370T|ANO3_uc010rdt.2_Silent_p.T385T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	531						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ATCCCATCACGGGAAAACCTG	0.403000														52			7		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65790401	65790401	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65790401C>T	uc001ogt.3	-	1	1486	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	450					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATGAAAGTTTCAAAGGCCAAG	0.537000											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		182			14		0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1391220	1391220	+	Silent	SNP	G	A	A	rs144247905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1391220G>A	uc003mtm.3	+	0	1152	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	346					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CTGGCGCCTCGCCTTACCTCA	0.706000														37			5		0	0	1	0	0
CST7	8530	broad.mit.edu	37	20	24940294	24940294	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24940294C>T	uc002wtx.2	+	3	660	c.384C>T	c.(382-384)gtC>gtT	p.V128V		NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.	128					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity	p.R128C(1)		large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						ACTCTGAAGTCTGGGTCGTGC	0.597000														166			37		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609292	84609292	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609292G>A	uc004amn.3	+	3	3954	c.3907G>A	c.(3907-3909)Gag>Aag	p.E1303K		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1303						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CAAAGGAGGAGAGCTTGATGG	0.542000														60			12		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677465	1677465	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1677465G>A	uc002qxa.3	-	8	1032	c.968C>T	c.(967-969)gCc>gTc	p.A323V	PXDN_uc002qxb.1_Missense_Mutation_p.A323V|PXDN_uc002qxc.1_Missense_Mutation_p.A140V	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	323	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CACCTCTCCGGCCACGTTCTT	0.557000														286			81		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64937606	64937606	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64937606C>A	uc001jmn.3	-	22	7395	c.7095G>T	c.(7093-7095)aaG>aaT	p.K2365N	JMJD1C_uc001jml.3_Missense_Mutation_p.K2128N|JMJD1C_uc001jmm.3_Missense_Mutation_p.K2077N|JMJD1C_uc010qiq.2_Missense_Mutation_p.K2183N|JMJD1C_uc009xpi.3_Missense_Mutation_p.K2183N|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmk.3_5'Flank|JMJD1C_uc001jmo.3_Missense_Mutation_p.K272N	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2365	JmjC.				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTCAAATTTCTTGAGAATTC	0.383000														31			7		5.18039e-06	5.47662e-06	1	1	0
STXBP5	134957	broad.mit.edu	37	6	147581831	147581831	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147581831T>C	uc003qlz.3	+	4	687	c.512T>C	c.(511-513)gTg>gCg	p.V171A	STXBP5_uc010khz.2_Missense_Mutation_p.V171A|STXBP5_uc003qly.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	171					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTGTCAATGTGGAGTCCTTC	0.383000														77			17		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170051308	170051308	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170051308C>T	uc003isa.1	-	6	1404	c.1069_splice	c.e6-1	p.V357_splice	SH3RF1_uc010irc.1_Splice_Site_p.G79_splice	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	357						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TTATATGAACCTGCCGAGAAA	0.408000														42			7		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11556085	11556085	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11556085C>T	uc002gne.3	+	13	2429	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	DNAH9_uc010coo.3_Silent_p.C81C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	787	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.C787C(2)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGGCATTTGCGATTATGTCA	0.358000														101			25		0	0	1	0	0
SEPP1	6414	broad.mit.edu	37	5	42800927	42800927	+	Silent	SNP	C	T	T	rs17857312		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42800927C>T	uc011cps.2	-	5	1229	c.1131G>A	c.(1129-1131)ttG>ttA	p.L377L	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Silent_p.L347L|SEPP1_uc011cpu.2_Silent_p.L347L|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	347					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGCTGGAGGCAAACGTCACT	0.463000														128			18		0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15803788	15803788	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15803788C>T	uc009zif.3	-	13	1497	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	EPS8_uc001rdb.3_Missense_Mutation_p.R468H|EPS8_uc009zig.3_Missense_Mutation_p.R208H|EPS8_uc010shv.2_Missense_Mutation_p.R208H	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	468					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCCTGTTTGCGCTGATGTTC	0.393000														138			19		0	0	1	0	0
KIAA0391	9692	broad.mit.edu	37	14	35593373	35593373	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35593373C>T	uc001wsy.1	+	1	1282	c.922C>T	c.(922-924)Cta>Tta	p.L308L	KIAA0391_uc010tps.1_Silent_p.L213L|KIAA0391_uc001wsz.1_Silent_p.L308L|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.3_5'Flank|PPP2R3C_uc001wst.3_5'Flank|PPP2R3C_uc010tpr.2_5'Flank|PPP2R3C_uc001wsu.3_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.3_5'Flank|PPP2R3C_uc001wsx.1_5'Flank	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	308					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		TCTTTCATATCTAAGAAATAA	0.279000														58			14		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79932615	79932615	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79932615A>C	uc004edt.3	-	40	5165	c.4902T>G	c.(4900-4902)gaT>gaG	p.D1634E	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.D1463E|BRWD3_uc004edq.3_Missense_Mutation_p.D1230E|BRWD3_uc010nmj.2_Missense_Mutation_p.D1230E|BRWD3_uc004edr.3_Missense_Mutation_p.D1304E|BRWD3_uc004eds.3_Missense_Mutation_p.D1230E|BRWD3_uc004edo.3_Missense_Mutation_p.D1230E|BRWD3_uc004edu.3_Missense_Mutation_p.D1304E|BRWD3_uc004edv.3_Missense_Mutation_p.D1230E|BRWD3_uc004edw.3_Missense_Mutation_p.D1230E|BRWD3_uc004edx.3_Missense_Mutation_p.D1230E|BRWD3_uc004edy.3_Missense_Mutation_p.D1230E|BRWD3_uc004edz.3_Missense_Mutation_p.D1304E|BRWD3_uc004eea.3_Missense_Mutation_p.D1304E|BRWD3_uc004eeb.3_Missense_Mutation_p.D1230E	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1634								p.D1634Y(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATCTACGTAATCTTGATCTG	0.393000														226			73		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188788	57188788	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57188788G>A	uc010kzo.3	-	4	605	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TATGTTCTTGGTATTACTTTT	0.393000														108			16		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25965233	25965233	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25965233G>A	uc002rgs.2	-	11	4194	c.3973C>T	c.(3973-3975)Cca>Tca	p.P1325S	ASXL2_uc002rgt.1_Missense_Mutation_p.P808S	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTATAGCTTGGCCCTATCTGG	0.532000														59			10		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57918346	57918346	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57918346C>A	uc002emt.2	-	32	3543	c.3478G>T	c.(3478-3480)Gac>Tac	p.D1160Y	CNGB1_uc010cdh.2_Missense_Mutation_p.D1154Y	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1160					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CCCTTGACGTCTTGCGAGCTC	0.672000														124			19		5.26018e-13	6.10868e-13	1	1	0
GNL2	29889	broad.mit.edu	37	1	38042031	38042031	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38042031T>G	uc001cbk.3	-	8	1199	c.1036A>C	c.(1036-1038)Aag>Cag	p.K346Q	GNL2_uc010oif.1_Missense_Mutation_p.K187Q	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	346	G.				ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CAACGTACCTTTGTTTCACCT	0.418000														126			17		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112054512	112054512	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112054512A>G	uc004epr.3	-	2	1520	c.1502T>C	c.(1501-1503)aTt>aCt	p.I501T	AMOT_uc004eps.3_Missense_Mutation_p.I92T|AMOT_uc004ept.1_Missense_Mutation_p.I501T	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	501					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CATCCTCCGAATCTCGCCCTC	0.517000														236			57		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50235228	50235228	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50235228G>A	uc002xwg.1	-	20	2323	c.2323C>T	c.(2323-2325)Cgc>Tgc	p.R775C	ATP9A_uc010gih.1_Missense_Mutation_p.R639C|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	775					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTGCCCGTGCGCTCCTGAAGC	0.642000														167			42		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780912	9780912	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780912C>T	uc001aqe.4	+	11	1914	c.1706C>T	c.(1705-1707)gCg>gTg	p.A569V	PIK3CD_uc001aqb.4_Missense_Mutation_p.A545V|PIK3CD_uc010oaf.2_Missense_Mutation_p.A544V|PIK3CD_uc021ogb.1_Missense_Mutation_p.A329V	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	545					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTCCCGGAGGCGCTAGCCCGG	0.667000														38			6		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53042884	53042884	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53042884G>A	uc001sat.3	-	3	897	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	288	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CATTGTCCACGTCCTGCAAGA	0.517000														90			24		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116403139	116403139	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116403139T>C	uc003vij.3	+	10	2587	c.2400T>C	c.(2398-2400)tgT>tgC	p.C800C	MET_uc022akk.1_Silent_p.C800C|MET_uc010lkh.3_Silent_p.C818C|MET_uc011knh.1_3'UTR|MET_uc011kni.2_Silent_p.C800C|MET_uc011knj.2_Silent_p.C370C	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	800	IPT/TIG 3.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGATAATCTGTTGTACCACTC	0.408000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					118			23		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11144146C>T	uc010dxp.3	+	26	4087	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1243W|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1243W|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1243W|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1243W|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1243W|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1243W|SMARCA4_uc010dxt.1_Missense_Mutation_p.R463W|SMARCA4_uc002mqh.4_Missense_Mutation_p.R366W|SMARCA4_uc002mqi.1_Missense_Mutation_p.R446W	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1243	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1243W(5)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637000			"""F, N, Mis"""		NSCLC									281			12		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288663	33288663	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288663C>A	uc003oec.3	-	2	1093	c.889G>T	c.(889-891)Gct>Tct	p.A297S	ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.A297S|DAXX_uc021ywo.1_Missense_Mutation_p.A297S|DAXX_uc011dre.2_Missense_Mutation_p.A309S|DAXX_uc003oed.3_Missense_Mutation_p.A297S|DAXX_uc011drd.2_Missense_Mutation_p.A222S|DAXX_uc010juw.2_Missense_Mutation_p.A222S	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	297					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.A297P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGTCGGGCAGCTGCCTTCTCT	0.597000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									185			45		2.61675e-31	3.2997e-31	1	1	0
CPS1	1373	broad.mit.edu	37	2	211502491	211502491	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211502491C>A	uc010fur.3	+	22	2853	c.2771C>A	c.(2770-2772)tCa>tAa	p.S924*	CPS1_uc002vee.4_Nonsense_Mutation_p.S918*|CPS1_uc010fus.3_Nonsense_Mutation_p.S467*	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	918					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AAGCAGATTTCAAAATGCCTT	0.438000														100			25		3.6726e-16	4.37102e-16	1	1	0
COL8A1	1295	broad.mit.edu	37	3	99514881	99514881	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99514881C>T	uc003dti.1	+	2	2267	c.2139C>T	c.(2137-2139)gaC>gaT	p.D713D	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Silent_p.D712D|COL8A1_uc003dth.1_Silent_p.D712D	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	712	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII		p.R713W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGCCCGGAGACCGGGTGTTCC	0.537000														105			24		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180017679	180017679	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180017679G>A	uc001gnt.3	+	21	5014	c.4631G>A	c.(4630-4632)aGt>aAt	p.S1544N	CEP350_uc009wxl.2_Missense_Mutation_p.S1543N	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1544	Ser-rich.					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						AGAAGTAGCAGTGGTAGCAGC	0.348000														59			8		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73492836	73492836	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73492836G>A	uc010wsa.2	+	23	3491	c.3299G>A	c.(3298-3300)cGt>cAt	p.R1100H	KIAA0195_uc002jnz.4_Missense_Mutation_p.R1090H|KIAA0195_uc010wsb.2_Missense_Mutation_p.R730H|KIAA0195_uc002job.4_Missense_Mutation_p.R98H	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1090					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TATGGCATCCGTAAGTGCTTC	0.607000														207			26		0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35896742	35896742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35896742G>A	uc001iyy.1	+	1	459	c.301G>A	c.(301-303)Gcc>Acc	p.A101T		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	101					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCACCGAGGAGCCACGCTCGC	0.746000														137			31		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121386347	121386347	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121386347G>T	uc010hrc.3	-	19	9671	c.9545C>A	c.(9544-9546)tCt>tAt	p.S3182Y	GOLGB1_uc003eei.4_Missense_Mutation_p.S3172Y|GOLGB1_uc003eej.4_Missense_Mutation_p.S3138Y|GOLGB1_uc021xcy.1_Missense_Mutation_p.S3097Y	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	3172					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTCGGCCACAGAGAGAGCATT	0.498000														98			28		7.01153e-11	7.92827e-11	1	1	0
DUSP13	51207	broad.mit.edu	37	10	76854490	76854490	+	Missense_Mutation	SNP	G	T	T	rs148360130		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76854490G>T	uc001jwr.3	-	3	604	c.541C>A	c.(541-543)Ctc>Atc	p.L181I	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Missense_Mutation_p.L274I|DUSP13_uc001jww.3_Missense_Mutation_p.L231I|DUSP13_uc009xrs.3_Missense_Mutation_p.L274I|DUSP13_uc001jwt.3_Missense_Mutation_p.L274I|DUSP13_uc001jwv.3_Missense_Mutation_p.L181I	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	172	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCTGCCGGAGGAAGCCTGAG	0.622000														76			19		8.10497e-08	8.79904e-08	1	1	0
FRYL	285527	broad.mit.edu	37	4	48604058	48604058	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604058C>A	uc003gyh.1	-	12	1619	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H	FRYL_uc003gyk.3_Missense_Mutation_p.Q338H	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ACAAACAGTTCTGTAGGAAAA	0.313000														49			9		1	1	1	1	0
GRID2	2895	broad.mit.edu	37	4	94344105	94344105	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94344105G>A	uc011cdt.2	+	9	1789	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K	GRID2_uc011cdu.2_Missense_Mutation_p.E416K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	511					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTGGTAGGAGAACTTGTCTT	0.368000														65			12		0	0	1	0	0
NPRL2	10641	broad.mit.edu	37	3	50385991	50385991	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385991G>T	uc003daj.1	-	6	1090	c.687C>A	c.(685-687)taC>taA	p.Y229*	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	229					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						CAACGCCGTAGTACCTGAGAG	0.582000														122			23		7.87624e-14	9.21814e-14	1	1	0
COL1A1	1277	broad.mit.edu	37	17	48264896	48264896	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48264896G>T	uc002iqm.3	-	45	3498	c.3372C>A	c.(3370-3372)ggC>ggA	p.G1124G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1124	Triple-helical region.		G -> C (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CACCAGGAGAGCCCTGAAGGA	0.587000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							66			9		1.33987e-11	1.52969e-11	1	1	0
MYL2	4633	broad.mit.edu	37	12	111348974	111348974	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111348974G>A	uc001try.4	-	6	479	c.408C>T	c.(406-408)gaC>gaT	p.D136D	MYL2_uc001trx.4_Silent_p.D117D	NM_000432	NP_000423	P10916	MLRV_HUMAN	Homo sapiens myosin, light chain 2, regulatory, cardiac, slow (MYL2), mRNA.	136	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						CGAACATCTGGTCAACCTGCA	0.612000														294			12		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212495251	212495251	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212495251G>T	uc002veg.1	-	16	2113	c.2015C>A	c.(2014-2016)gCt>gAt	p.A672D	ERBB4_uc002veh.1_Missense_Mutation_p.A672D|ERBB4_uc010zji.1_Missense_Mutation_p.A662D|ERBB4_uc010zjj.1_Missense_Mutation_p.A662D|ERBB4_uc010fut.1_Missense_Mutation_p.A672D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	672					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AACATAAACAGCAAATGTCAG	0.403000										TSP Lung(8;0.080)				102			33		1.99505e-19	2.42313e-19	1	1	0
CFH	3075	broad.mit.edu	37	1	196684801	196684801	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196684801A>T	uc001gtj.4	+	10	1838	c.1598A>T	c.(1597-1599)gAc>gTc	p.D533V	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	533	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						gacacattGGACTATGAATGC	0.363000														157			9		0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59065517	59065517	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59065517G>A	uc002qti.3	-	0	489	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CHMP2A_uc002qtj.3_Silent_p.A21A|CHMP2A_uc002qtk.3_Silent_p.A21A	NM_198426	NP_940818	O43633	CHM2A_HUMAN	Homo sapiens charged multivesicular body protein 2A (CHMP2A), transcript variant 2, mRNA.	21					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CACGGTTCAGGGCCCTCTGGT	0.572000														297			54		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573594	64573594	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573594G>T	uc010qio.2	-	2	863	c.843C>A	c.(841-843)atC>atA	p.I281I	EGR2_uc010qim.2_Silent_p.I268I|EGR2_uc010qin.2_Silent_p.I218I|EGR2_uc001jmi.3_Silent_p.I268I|EGR2_uc009xph.3_Silent_p.I268I	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	268					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAAAGTTACGGATTGTAGAGA	0.652000														128			36		9.17885e-22	1.12858e-21	1	1	0
KIF1A	547	broad.mit.edu	37	2	241709069	241709069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241709069G>A	uc010fzk.3	-	15	1643	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	KIF1A_uc002vzy.3_Missense_Mutation_p.R457W|KIF1A_uc002vzz.2_Missense_Mutation_p.R466W	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	457					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCTTCTGTCCGCCGCAGCTTC	0.627000														69			14		0	0	1	0	0
GAPT	202309	broad.mit.edu	37	5	57790515	57790515	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57790515G>A	uc003jro.1	+	2	546	c.152G>A	c.(151-153)aGc>aAc	p.S51N	GAPT_uc021xyy.1_Missense_Mutation_p.S51N	NM_152687	NP_689900	Q8N292	GAPT_HUMAN	Homo sapiens GRB2-binding adaptor protein, transmembrane (GAPT), mRNA.	51					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CAAAGGAGAAGCAGCAGGAGA	0.448000														74			16		0	0	1	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609809	23609809	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23609809T>G	uc001wiz.3	-	4	1385	c.659A>C	c.(658-660)aAg>aCg	p.K220T	SLC7A8_uc001wix.3_Missense_Mutation_p.K17T|SLC7A8_uc010tnk.2_Intron|SLC7A8_uc010tnl.2_Missense_Mutation_p.K115T|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Missense_Mutation_p.K220T	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	220					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	p.P219Q(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	AAATGCATTCTTTGGCTCCAG	0.567000														251			65		0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674597	71674597	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71674597C>T	uc002fau.3	+	2	963	c.900C>T	c.(898-900)ctC>ctT	p.L300L	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	303	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGAAGTGGCTCCTCACGGAGG	0.567000														115			8		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673586	3673586	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673586C>A	uc002wja.3	-	13	3701	c.3701G>T	c.(3700-3702)aGg>aTg	p.R1234M	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R1234M|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1234	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCCTCATCCCTGGGCTGTGG	0.697000														129			32		1.36615e-20	1.66935e-20	1	1	0
HOXD12	3238	broad.mit.edu	37	2	176964901	176964901	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964901C>T	uc010zev.1	+	0	372	c.372C>T	c.(370-372)agC>agT	p.S124S	HOXD12_uc021vsp.1_Silent_p.S124S	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	124						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCGAGTCTAGCCTGGCTCCTG	0.677000														73			16		0	0	1	0	0
ADRA2A	150	broad.mit.edu	37	10	112839042	112839042	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112839042G>A	uc001kzo.3	+	0	2253	c.1288G>A	c.(1288-1290)Ggc>Agc	p.G430S		NM_000681	NP_000672	P08913	ADA2A_HUMAN	Homo sapiens adrenergic, alpha-2A-, receptor (ADRA2A), mRNA.	415					Rho protein signal transduction|actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CTTCTGGTTCGGCTACTGCAA	0.572000														308			60		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216605	154216605	+	Silent	SNP	C	T	T	rs142242737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216605C>T	uc003inh.2	+	5	1012	c.927C>T	c.(925-927)aaC>aaT	p.N309N	TRIM2_uc003ing.2_Silent_p.N282N	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	282						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AGAAGCTGAACGAGCTGGCCG	0.582000														93			5		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75981284	75981284	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981284G>A	uc002baw.3	-	2	2215	c.2122C>T	c.(2122-2124)Cag>Tag	p.Q708*		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	708	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCCCCAAACTGCAGGGCCCCA	0.672000														255			55		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11733252	11733252	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11733252G>A	uc002rbk.1	+	11	1996	c.1696_splice	c.e11+1	p.G566_splice	GREB1_uc002rbo.1_Splice_Site_p.G200_splice	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	566						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGCCGTCACCGGTGAGCTCTG	0.657000														50			15		0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1636214	1636214	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1636214G>T	uc002cmb.3	-	9	1434	c.1072C>A	c.(1072-1074)Ctg>Atg	p.L358M	IFT140_uc002clz.3_Missense_Mutation_p.L9M	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	358										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGGCTGCCCAGGAAGTCTGGT	0.567000														216			47		1.7489e-18	2.11342e-18	1	1	0
CNNM2	54805	broad.mit.edu	37	10	104679703	104679703	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679703C>T	uc001kwm.3	+	0	1629	c.1466C>T	c.(1465-1467)tCc>tTc	p.S489F	CNNM2_uc001kwn.3_Missense_Mutation_p.S489F|CNNM2_uc001kwl.3_Missense_Mutation_p.S489F	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	489	CBS 1.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGAGCGCTCCAATATCGTG	0.517000														139			28		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097306	144097306	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144097306C>T	uc022aoj.1	-	4	944	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	315					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TACCATGATGCGCTGGGGGGT	0.587000														152			33		0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21961134	21961134	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21961134G>T	uc001waz.3	+	6	1462	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H	TOX4_uc001way.3_Missense_Mutation_p.Q323H|TOX4_uc010tlu.2_Missense_Mutation_p.Q430H|TOX4_uc010tlv.2_Missense_Mutation_p.Q323H	NM_014828	NP_055643	O94842	TOX4_HUMAN	Homo sapiens TOX high mobility group box family member 4 (TOX4), mRNA.	453	Gln/Pro-rich.					PTW/PP1 phosphatase complex|chromatin|nucleus	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		AGATGCCACAGCCCCCGACTC	0.567000														325			70		1.49723e-40	1.90345e-40	1	1	0
PANX2	56666	broad.mit.edu	37	22	50615556	50615556	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50615556G>A	uc003bjn.4	+	1	415	c.415G>A	c.(415-417)Gcg>Acg	p.A139T	PANX2_uc003bjp.4_Missense_Mutation_p.A5T|PANX2_uc003bjo.4_Missense_Mutation_p.A139T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	139					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTACGTGCCCGCGCTGGGCTG	0.687000														60			8		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31593326	31593326	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31593326T>G	uc002rnv.1	-	17	1954	c.1875A>C	c.(1873-1875)gaA>gaC	p.E625D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	625					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)	CCTTCTTAGCTTCTGATGTAT	0.478000														38			13		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69990401	69990401	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69990401C>T	uc003dnz.3	+	4	844	c.681C>T	c.(679-681)atC>atT	p.I227I	MITF_uc011bgb.2_Silent_p.I175I|MITF_uc003doa.3_Silent_p.I226I|MITF_uc003dob.3_Silent_p.I211I|MITF_uc021xam.1_Silent_p.I64I|MITF_uc003doe.3_Silent_p.I120I|MITF_uc003dof.3_Silent_p.I120I	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	227	Transactivation.				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		ATGATGTAATCGATGACATCA	0.343000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							35			7		0	0	1	0	0
ZNF791	163049	broad.mit.edu	37	19	12738624	12738624	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12738624C>T	uc002mua.2	+	3	443	c.281C>T	c.(280-282)aCt>aTt	p.T94I	ZNF791_uc010xml.1_Missense_Mutation_p.T62I|ZNF791_uc010dyu.1_5'UTR|ZNF791_uc010xmm.1_5'UTR	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						ACGAAGAAGACTGCCGGAGTA	0.443000														219			46		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154744644	154744644	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154744644C>T	uc021pah.1	-	2	1569	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T	KCNN3_uc001ffo.3_Missense_Mutation_p.A114T|KCNN3_uc001ffp.3_Missense_Mutation_p.A419T|KCNN3_uc009wox.1_Missense_Mutation_p.A419T	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	424						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			ATGACTCGGGCGATCAGGTAC	0.602000														153			47		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895227	23895227	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895227C>T	uc001wjx.3	-	18	2214	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	703	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R703H(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTGCAGATGCGGATGCCCTC	0.602000														95			16		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361564	55361564	+	Silent	SNP	A	G	G	rs148248438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361564A>G	uc002ehy.3	+	3	1013	c.480A>G	c.(478-480)acA>acG	p.T160T	IRX6_uc002ehx.3_Silent_p.T160T|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	160						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCACCAGTACACTCAAGGCCT	0.572000														97			26		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791066	106791066	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791066G>A	uc021ser.1	-	619		c.17326C>T								Parts of antibodies, mostly variable regions.																		CAGATACAGCGTGTTCTTGGA	0.483000														824			41		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105189929	105189929	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105189929A>G	uc004emd.3	+	24	4425	c.4122A>G	c.(4120-4122)atA>atG	p.I1374M	NRK_uc011msi.2_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1375	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R1374*(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATATACGAATACTGGCAAAAA	0.443000										HNSCC(51;0.14)				45			22		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70541910	70541910	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70541910C>A	uc001dep.3	+	21	4297	c.4267C>A	c.(4267-4269)Cgg>Agg	p.R1423R	LRRC7_uc009wbg.3_Silent_p.R707R|LRRC7_uc001deq.3_Silent_p.R617R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1423						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAGGCCACCCGGGGACCTCA	0.473000														161			8		0.000157383	0.000162836	1	1	0
RIPK3	11035	broad.mit.edu	37	14	24808519	24808519	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24808519G>T	uc001wpb.3	-	2	383	c.173C>A	c.(172-174)tCc>tAc	p.S58Y	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.S58Y	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	58	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GACCTCCCTGGATATCGCCTT	0.587000														187			38		8.73648e-17	1.04385e-16	1	1	0
ANKRD50	57182	broad.mit.edu	37	4	125599995	125599995	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125599995G>T	uc010inw.3	-	2	1616	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	ANKRD50_uc011cgo.2_Missense_Mutation_p.S14Y	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	193										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTCATCAACAGAATCAACAAG	0.438000														197			32		1.836e-18	2.21806e-18	1	1	0
SKA1	220134	broad.mit.edu	37	18	47911724	47911724	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47911724G>A	uc002let.3	+	5	633	c.449_splice	c.e5+1	p.S150_splice	SKA1_uc002leu.3_Splice_Site_p.S150_splice|SKA1_uc010xdl.2_Intron	NM_145060	NP_659497	Q96BD8	SKA1_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 1 (SKA1), transcript variant 2, mRNA.	150					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						GTGTTCCTTCGTAAGTATTTA	0.294000														71			7		0	0	1	0	0
VNN1	8876	broad.mit.edu	37	6	133004445	133004445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133004445C>T	uc003qdo.3	-	6	1396	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	VNN1_uc003qdn.3_Non-coding_Transcript	NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	459					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity	p.R459H(2)|p.R459G(1)		NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTAAACAAGCGTCCGTCAGT	0.398000														56			15		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53558604	53558604	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53558604G>A	uc001xai.3	-	3	1418	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A	DDHD1_uc001xaj.3_Silent_p.A403A|DDHD1_uc001xah.3_Silent_p.A396A|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	396					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCTAATGTGGCTTCTTCTA	0.348000														68			21		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540472	169540472	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169540472G>A	uc003fgb.3	+	0	763	c.763G>A	c.(763-765)Gag>Aag	p.E255K		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	255										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GAGCTTCGCCGAGCTCAGGAA	0.607000														95			24		0	0	1	0	0
ARHGAP11B	89839	broad.mit.edu	37	15	30925773	30925773	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30925773G>A	uc001zet.1	+	2	426	c.281G>A	c.(280-282)cGc>cAc	p.R94H	ARHGAP11B_uc010azv.1_Non-coding_Transcript|ARHGAP11B_uc001zeu.3_Non-coding_Transcript	NM_001039841	NP_001034930	Q3KRB8	RHGBB_HUMAN	Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA.	94	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	8		all_lung(180;2.71e-09)|Breast(32;0.00116)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TCTGTGATTCGCCTAAAAGCA	0.323000														63			14		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63600932	63600932	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63600932T>C	uc003dlp.3	+	5	929	c.633T>C	c.(631-633)gcT>gcC	p.A211A	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Non-coding_Transcript|SYNPR_uc003dlq.3_Silent_p.A191A|SYNPR_uc010hnt.3_Silent_p.A200A|SYNPR_uc011bfm.2_Non-coding_Transcript	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	191	5 X approximate repeats.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TTCTCTGGGCTGGAAACATAT	0.398000														42			10		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41372020	41372020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41372020C>T	uc001zni.3	-	8	1223	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	337	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GGTGAGGCGGCGGGCACGAGG	0.532000														305			76		0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101989020	101989020	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101989020G>A	uc011kkp.2	-	5	1274	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	285	Arg-rich.																CAACGCTTACGGAGCAAGGGT	0.542000														867			34		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152080181	152080181	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152080181G>A	uc009wne.1	-	2	5784	c.5512C>T	c.(5512-5514)Cgg>Tgg	p.R1838W	TCHH_uc001ezp.2_Missense_Mutation_p.R1838W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1838	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTCCTGCCGCAGCCTCTGC	0.587000														177			37		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41939937	41939937	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41939937T>C	uc003ckv.4	-	13	1536	c.1335A>G	c.(1333-1335)ctA>ctG	p.L445L	ULK4_uc003ckw.2_Silent_p.L445L|ULK4_uc003ckx.1_Silent_p.L445L	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	445							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATATGTTGGTAGATGCAATA	0.284000														89			24		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103667818	103667818	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103667818G>A	uc011lhk.1	-	0	166	c.12C>T	c.(10-12)ttC>ttT	p.F4F	KLF10_uc011lhj.1_5'Flank	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	4					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GAGAGGCACCGAAGTTGAGCA	0.657000														79			16		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158631186	158631186	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631186A>G	uc001fst.1	-	17	2677	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	826					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L825R(1)		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)					TTTTGGAAGCAATCAGGTCCT	0.428000														124			17		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48720570	48720570	+	Missense_Mutation	SNP	C	T	T	rs148831709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48720570C>T	uc001zwx.2	-	56	7365	c.6970G>A	c.(6970-6972)Gcc>Acc	p.A2324T	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2324	EGF-like 40; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGGGGCTGGCGGTAAACCCA	0.542000														93			11		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006262	67006262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006262C>T	uc002eqt.3	+	10	1374	c.1295C>T	c.(1294-1296)tCt>tTt	p.S432F	CES3_uc010cdz.3_Missense_Mutation_p.S432F|CES3_uc010viw.2_Missense_Mutation_p.S71F	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	432						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TCTGTAGATTCTGGAAGCCCT	0.498000														540			136		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567303	99567303	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567303C>T	uc003dtm.3	-	4	3680	c.3217G>A	c.(3217-3219)Gct>Act	p.A1073T	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.A1073T|FILIP1L_uc010hpf.3_Missense_Mutation_p.A649T|FILIP1L_uc010hpg.3_Missense_Mutation_p.A833T|FILIP1L_uc003dtn.3_Missense_Mutation_p.A833T|FILIP1L_uc021xbr.1_Missense_Mutation_p.A833T|FILIP1L_uc003dtp.1_Missense_Mutation_p.A833T	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	1073						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						CTGGCTACAGCTTGCATGTAA	0.448000														268			59		0	0	1	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247128	26247128	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26247128A>T	uc003nhf.3	-	0	78	c.78T>A	c.(76-78)aaT>aaA	p.N26K		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	26					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TGCCCTGAATATTATCGCTCA	0.552000														97			21		0	0	1	0	0
CYC1	1537	broad.mit.edu	37	8	145151980	145151980	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145151980C>A	uc003zaz.4	+	5	859	c.816C>A	c.(814-816)acC>acA	p.T272T	CYC1_uc003zay.3_Silent_p.T213T	NM_001916	NP_001907	P08574	CY1_HUMAN	Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.	272					respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTGTGCACCTTCCTGCGCT	0.572000														23			6		5.9392e-07	6.36579e-07	1	1	0
TMEM48	55706	broad.mit.edu	37	1	54254859	54254859	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54254859G>A	uc001cvs.3	-	14	1937	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	TMEM48_uc010onu.2_Missense_Mutation_p.A509V|TMEM48_uc001cvt.3_Missense_Mutation_p.A426V|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_Missense_Mutation_p.A214V	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	549					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CTGAATGGAGGCCTCTGGGTG	0.343000														40			7		0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41201931	41201931	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41201931C>T	uc002oor.2	-	12	1474	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	ADCK4_uc002oop.1_Missense_Mutation_p.R68Q|ADCK4_uc002ooq.2_Missense_Mutation_p.R350Q	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	391	Protein kinase.					integral to membrane	protein serine/threonine kinase activity	p.S390I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			CCCAAACTCCCGGCTTGCACC	0.562000														262			48		0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771377	99771377	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771377G>A	uc001dse.3	+	6	1261	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	LPPR4_uc010oue.2_Missense_Mutation_p.G310E	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	368							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCAGTGATGGAATTGCTCAT	0.448000														119			15		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334403	2334403	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2334403G>A	uc002cpy.1	-	24	4451	c.3739C>T	c.(3739-3741)Cac>Tac	p.H1247Y	ABCA3_uc010bsk.1_Missense_Mutation_p.H1189Y	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1247					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGAACACGTGATCCAGGGTT	0.587000														213			47		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32635840	32635840	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32635840T>C	uc001iwg.1	-	0	274	c.4A>G	c.(4-6)Agt>Ggt	p.S2G	EPC1_uc001iwi.3_Intron|EPC1_uc009xlt.2_Intron|EPC1_uc001iwh.1_Missense_Mutation_p.S2G	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	2					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GACAGTTTACTCATCTCAGGC	0.642000														125			32		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137565290	137565290	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565290C>T	uc003vtw.3	-	11	1891	c.1495G>A	c.(1495-1497)Gcc>Acc	p.A499T	CREB3L2_uc003vtv.3_Missense_Mutation_p.A436T	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	499					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCAGTTTGGCGCTGACCCTG	0.458000			T	FUS	fibromyxoid sarcoma									41			8		0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531186	50531186	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50531186C>T	uc021pqb.1	+	0	596	c.596C>T	c.(595-597)cCc>cTc	p.P199L	C10orf71_uc021pqa.1_Missense_Mutation_p.P198L|C10orf71_uc021pqc.1_Missense_Mutation_p.P199L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	199										endometrium(1)	1						AGGAGGGTGCCCGCTGAAGTT	0.532000														82			17		0	0	1	0	0
SLC30A1	7779	broad.mit.edu	37	1	211749594	211749594	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211749594T>C	uc001hio.1	-	1	805	c.660A>G	c.(658-660)gtA>gtG	p.V220V		NM_021194	NP_067017	Q9Y6M5	ZNT1_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 1 (SLC30A1), mRNA.	220					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	T-tubule|integral to membrane	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CATTCACTTGTACTTCCACTG	0.368000														63			12		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67012395	67012395	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67012395T>C	uc002jhu.3	-	22	3182	c.3039_splice	c.e22+1	p.E1013_splice	ABCA9_uc010dez.3_Splice_Site_p.E1013_splice	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1013					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TATACTTACTTCAAAAAATGT	0.303000														91			9		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001387	128001387	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001387C>A	uc004bpn.3	-	4	1090	c.829G>T	c.(829-831)Gat>Tat	p.D277Y		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	277					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.D277Y(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TTCCTGACATCTTTGCCCGTC	0.468000										Prostate(1;0.17)				90			18		3.41278e-10	3.83229e-10	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51901512	51901512	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901512A>T	uc002iua.2	+	0	1274	c.1118A>T	c.(1117-1119)aAg>aTg	p.K373M	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	373	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAAGAAGAAGCTGCAAGTC	0.463000														158			27		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141743	3141743	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3141743C>A	uc022aqr.1	-	25	4466	c.4076G>T	c.(4075-4077)aGc>aTc	p.S1359I	CSMD1_uc011kwj.2_Missense_Mutation_p.S752I|CSMD1_uc003wqe.3_Missense_Mutation_p.S516I	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1360	CUB 8.					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)		GTTGAAGGTGCTGTGGATGTC	0.577000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			4		0.00909568	0.00920877	1	1	0
TXNRD2	10587	broad.mit.edu	37	22	19870891	19870891	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19870891G>A	uc021wlj.1	-	11	1076	c.1043C>T	c.(1042-1044)gCc>gTc	p.A348V	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.A347V|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	348					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					CACAGAGGTGGCTTCCCGGGA	0.627000														201			50		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750367	30750367	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30750367A>G	uc002dze.1	+	33	9391	c.9006A>G	c.(9004-9006)ccA>ccG	p.P3002P	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P2797P	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	3002	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAACGTCCCCACCCAAACGGA	0.592000														145			28		0	0	1	0	0
BTG2	7832	broad.mit.edu	37	1	203274801	203274801	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203274801C>A	uc001gzq.3	+	0	138	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	LOC730227_uc009xao.2_5'Flank|LOC730227_uc001gzp.2_5'Flank	NM_006763	NP_006754	P78543	BTG2_HUMAN	Homo sapiens BTG family, member 2 (BTG2), mRNA.	23					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CCTCTCCAGCCTCCTGAGGAC	0.697000														8			3		0.00909568	0.00920877	1	1	0
LOC100499466	100499466	broad.mit.edu	37	17	66122515	66122515	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66122515C>T	uc002jgq.3	+	5		c.1638C>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		ATGGCCAAGACAAACTATGGC	0.488000														18			5		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220473436	220473436	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473436C>T	uc002vml.3	+	14	1811	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	STK11IP_uc010zll.2_Nonsense_Mutation_p.R547*|STK11IP_uc002vmm.1_Nonsense_Mutation_p.R579*	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	590	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCTTGGAGCGACTGGAGCT	0.657000														65			5		0	0	1	0	0
RAD9A	5883	broad.mit.edu	37	11	67163803	67163803	+	Silent	SNP	C	T	T	rs141857815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67163803C>T	uc001okr.3	+	8	897	c.804C>T	c.(802-804)acC>acT	p.T268T	RAD9A_uc021qmg.1_Silent_p.T192T	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	268	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			TCTCAGACACCGACTCGCACT	0.642000								Other conserved DNA damage response genes						325			66		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21549149	21549149	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21549149G>A	uc009zzs.3	-	7	3492	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*	LATS2_uc001unr.4_Nonsense_Mutation_p.R1043*	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	1043	AGC-kinase C-terminal.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AAGAACCTTCGGAAGGTGAAT	0.512000														231			39		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132498065	132498065	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132498065G>A	uc001ujn.3	+	17	3794	c.3642G>A	c.(3640-3642)ccG>ccA	p.P1214P	EP400_uc021rgq.1_Silent_p.P1213P|EP400_uc001ujm.3_Silent_p.P1214P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1250	Helicase ATP-binding.|Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCGACTCGCCGCTGCACAATA	0.592000														181			38		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152512680	152512680	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512680C>T	uc021vrb.1	-	46	6511	c.6482G>A	c.(6481-6483)cGc>cAc	p.R2161H	NEB_uc002txu.3_Missense_Mutation_p.R2161H|NEB_uc021vrc.1_Missense_Mutation_p.R2161H|NEB_uc010fnx.3_Missense_Mutation_p.R2161H|NEB_uc021vrd.1_Missense_Mutation_p.R2161H	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2161					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTCTGTATGCGATTCATATT	0.453000														427			62		0	0	1	0	0
MED31	51003	broad.mit.edu	37	17	6547942	6547942	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6547942A>G	uc002gdg.4	-	3	347	c.241T>C	c.(241-243)Tat>Cat	p.Y81H	MED31_uc002gdh.4_Non-coding_Transcript	NM_016060	NP_057144	Q9Y3C7	MED31_HUMAN	Homo sapiens mediator complex subunit 31 (MED31), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			cervix(1)|endometrium(1)|large_intestine(1)	3						AAGTGTTCATATTGGAGCAGC	0.408000														112			27		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128706495	128706495	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128706495C>T	uc003elj.4	-	3	827	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	KIAA1257_uc003elg.1_Missense_Mutation_p.G211S|KIAA1257_uc003eli.4_Missense_Mutation_p.G99S	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	211								p.G211C(2)		breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						TCTGTGAAGCCGGCAGTCTTT	0.393000														111			26		0	0	1	0	0
C1D	10438	broad.mit.edu	37	2	68274319	68274319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68274319C>T	uc002sea.4	-	1	206	c.124G>A	c.(124-126)Gag>Aag	p.E42K	C1D_uc010fdc.3_Missense_Mutation_p.E42K|C1D_uc021viu.1_Missense_Mutation_p.E42K|C1D_uc002sec.3_Missense_Mutation_p.E42K|C1D_uc002seb.3_Missense_Mutation_p.E42K	NM_173177	NP_775269	Q13901	C1D_HUMAN	Homo sapiens C1D nuclear receptor corepressor (C1D), transcript variant 2, mRNA.	42	Required for transcriptional repression (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TGCAACAACTCATTTCTAGAA	0.328000														57			12		0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110778497	110778497	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110778497C>T	uc001tqk.4	+	13	2358	c.1795C>T	c.(1795-1797)Ctg>Ttg	p.L599L	ATP2A2_uc001tql.4_Silent_p.L599L|ATP2A2_uc021rdt.1_Silent_p.L447L	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	599					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CGTGGGCATGCTGGATCCTCC	0.498000														262			66		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579637	7579637	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7579637T>C	uc003mxp.1	+	22	3493	c.3214T>C	c.(3214-3216)Ttc>Ctc	p.F1072L	DSP_uc003mxq.1_Missense_Mutation_p.F1072L|DSP_uc021yle.1_Missense_Mutation_p.F1072L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1072	Central fibrous rod domain.				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)		GTGTTCCCAGTTCAAAGCGAA	0.498000														131			11		0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57098390	57098390	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57098390C>T	uc001njt.3	-	9	1502	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E		NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	412					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						AAACAGTTTCCCGTACTCCTC	0.493000														72			9		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475516	5475516	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475516G>A	uc010qzf.2	+	0	879	c.798G>A	c.(796-798)aaG>aaA	p.K266K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTTTGGGAAGCATGTCCCAT	0.468000														221			57		0	0	1	0	0
MXD4	10608	broad.mit.edu	37	4	2263663	2263663	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2263663G>A	uc003geu.1	-	0	77	c.45C>T	c.(43-45)taC>taT	p.Y15Y	MXD4_uc003gev.1_Non-coding_Transcript	NM_006454	NP_006445	Q14582	MAD4_HUMAN	Homo sapiens MAX dimerization protein 4 (MXD4), mRNA.	15	Interaction with SIN3A and SIN3B (By similarity).				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TGCGCTCCAGGTACTCGGCCG	0.801000														18			6		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171327098	171327098	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171327098C>T	uc003mbm.1	-	3	751	c.380G>A	c.(379-381)gGc>gAc	p.G127D	FBXW11_uc011dey.1_Missense_Mutation_p.G95D|FBXW11_uc003mbl.1_Missense_Mutation_p.G114D|FBXW11_uc003mbn.1_Missense_Mutation_p.G93D	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	127					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGATCTAAGCCTTGCTCTAC	0.428000														154			43		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84691332	84691332	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691332C>T	uc002fig.3	+	2	1060	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	KLHL36_uc010chl.3_Missense_Mutation_p.R306W	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	307										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTCTCCGAGCGGTGTCTGGA	0.677000														54			23		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942923	134942923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942923C>T	uc001llw.3	+	15	3748	c.3748C>T	c.(3748-3750)Ccc>Tcc	p.P1250S	GPR123_uc001llx.4_Missense_Mutation_p.P531S			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	531						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GAACGGGCTGCCCAAGGGTAA	0.647000														50			7		0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24578221	24578221	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24578221C>T	uc003gqx.3	-	1	320	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	51					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccctctcTCGCTCTCTATC	0.448000														86			24		0	0	1	0	0
GBAS	2631	broad.mit.edu	37	7	56051523	56051523	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56051523G>A	uc003tre.2	+	5	580	c.547G>A	c.(547-549)Gga>Aga	p.G183R	GBAS_uc003trf.2_Missense_Mutation_p.G144R	NM_001483	NP_001474	O75323	NIPS2_HUMAN	Homo sapiens glioblastoma amplified sequence (GBAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	183						integral to plasma membrane|membrane fraction|mitochondrion	protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCCAAGATCCGGACCTAATAT	0.398000														101			15		0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30823180	30823180	+	Missense_Mutation	SNP	G	A	A	rs144789689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30823180G>A	uc003ahv.1	+	7	809	c.704G>A	c.(703-705)cGc>cAc	p.R235H	SEC14L2_uc010gvx.1_Intron|SEC14L2_uc010gvy.1_Intron|SEC14L2_uc003ahw.2_Missense_Mutation_p.R73H|SEC14L2_uc003ahx.2_Intron	NM_001204204	NP_001191133	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 3, mRNA.	0	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	GAAGCAGGCCGCAGCGCCAGG	0.632000														335			33		0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118474256	118474256	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118474256G>T	uc001twr.2	-	5	818	c.720C>A	c.(718-720)agC>agA	p.S240R	WSB2_uc010sza.1_Missense_Mutation_p.S15R|WSB2_uc010szb.1_Missense_Mutation_p.S30R|WSB2_uc009zws.1_Missense_Mutation_p.S240R	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	240					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGACAACACTGCTTTGATGGC	0.512000														168			49		2.13384e-23	2.64232e-23	1	1	0
LPAR1	1902	broad.mit.edu	37	9	113704334	113704334	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704334C>A	uc011lwo.2	-	1	165	c.163G>T	c.(163-165)Gga>Tga	p.G55*	LPAR1_uc004bfa.3_Nonsense_Mutation_p.G54*|LPAR1_uc011lwm.2_Nonsense_Mutation_p.G55*|LPAR1_uc004bfc.3_Nonsense_Mutation_p.G54*|LPAR1_uc011lwn.2_Nonsense_Mutation_p.G36*|LPAR1_uc004bfb.3_Nonsense_Mutation_p.G54*|LPAR1_uc010mub.3_Nonsense_Mutation_p.G54*	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	54					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATTCCAAGTCCCATCACCAGC	0.443000														125			18		7.07596e-05	7.35997e-05	1	1	0
PHF2P1	266695	broad.mit.edu	37	13	19625315	19625315	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19625315A>G	uc001umb.1	-	7		c.3208T>C								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		AGCACGTGGTACCAGGCGGAG	0.597000														66			13		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441414	58441414	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441414G>A	uc002yaz.3	-	39	4393	c.4254C>T	c.(4252-4254)atC>atT	p.I1418I		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1418					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GCTCCTCTATGATAATGAATT	0.244000														44			5		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103565854	103565854	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103565854A>C	uc001ktv.2	-	5	1142	c.699T>G	c.(697-699)taT>taG	p.Y233*	MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y233*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y233*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y233*|MGEA5_uc009xwt.2_Nonsense_Mutation_p.Y91*|MGEA5_uc010qqf.1_Non-coding_Transcript	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	233					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CAGTCCTTAAATATGGAGACT	0.353000														57			19		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254359	155254359	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254359C>T	uc003inw.2	-	8	1504	c.1504G>A	c.(1504-1506)Gca>Aca	p.A502T	DCHS2_uc003inx.2_Missense_Mutation_p.A1001T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	502	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCGCACGTGCGAGGTACAAG	0.597000														178			16		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46794235	46794235	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46794235G>A	uc011dwh.1	+	7	1015	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	MEP1A_uc010jzh.1_Missense_Mutation_p.C308Y|MEP1A_uc011dwg.1_Missense_Mutation_p.C30Y|MEP1A_uc011dwi.1_Missense_Mutation_p.C208Y	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	308	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TTGGGACAATGCACAGGTCAG	0.483000														123			20		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1157814	1157814	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1157814A>G	uc021qbr.1	+	7	928	c.881A>G	c.(880-882)gAc>gGc	p.D294G				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	290					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGGCAAGACCTCTGCTTC	0.642000														154			26		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55620367	55620367	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55620367G>T	uc021onw.1	-	12	1784	c.1531C>A	c.(1531-1533)Cat>Aat	p.H511N	USP24_uc001cyg.4_Missense_Mutation_p.H393N	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	511					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACAAACAAATGATTAAGCTGA	0.363000														44			5		0.000602214	0.000618135	1	1	0
SLX4	84464	broad.mit.edu	37	16	3639877	3639877	+	Silent	SNP	C	T	T	rs3810814	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3639877C>T	uc002cvp.2	-	11	4389	c.3762G>A	c.(3760-3762)tcG>tcA	p.S1254S		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1254	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCACCAGCCACGAGGTGTCTG	0.677000								Direct reversal of damage						214			69		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92470112	92470112	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92470112T>C	uc001xzy.3	-	10	4582	c.4208A>G	c.(4207-4209)gAt>gGt	p.D1403G	TRIP11_uc010auf.2_Missense_Mutation_p.D1139G	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1403					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGCAAAACATCTTGTTTCTC	0.353000			T	PDGFRB	AML									82			16		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31457609	31457609	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31457609G>A	uc002rnu.3	+	0	730	c.122G>A	c.(121-123)cGc>cAc	p.R41H	EHD3_uc010ymt.2_Missense_Mutation_p.R41H	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	41					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding	p.R41L(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GAGCATTACCGCTTCCACGAG	0.597000														196			75		0	0	1	0	0
C17orf97	400566	broad.mit.edu	37	17	263004	263004	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:263004C>A	uc021tna.1	+	1	386	c.370C>A	c.(370-372)Cct>Act	p.P124T	C17orf97_uc010vpz.1_5'Flank	NM_001013672	NP_001013694	Q6ZQX7	CQ097_HUMAN	Homo sapiens chromosome 17 open reading frame 97 (C17orf97), mRNA.	124										breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CATCTTAAGTCCTTGCAAAGA	0.517000														156			18		5.3912e-06	5.69533e-06	1	1	0
ITM2B	9445	broad.mit.edu	37	13	48832293	48832293	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48832293A>C	uc001vbz.3	+	3	708	c.485A>C	c.(484-486)gAt>gCt	p.D162A		NM_021999	NP_068839	Q9Y287	ITM2B_HUMAN	Homo sapiens integral membrane protein 2B (ITM2B), mRNA.	162	BRICHOS.				nervous system development	Golgi membrane|integral to membrane|nucleus|plasma membrane	beta-amyloid binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(8;2.2e-31)|all_epithelial(8;6.77e-15)|all_lung(13;9.67e-07)|all_hematologic(8;9.72e-06)|Lung NSC(96;8.3e-05)|Breast(56;0.000141)|Acute lymphoblastic leukemia(8;0.00045)|Prostate(109;0.000669)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;1.97e-06)		CTTAACCTGGATAAGTGCTAT	0.368000														89			18		0	0	1	0	0
TSEN2	80746	broad.mit.edu	37	3	12570396	12570396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12570396G>A	uc003bxc.3	+	8	1496	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	TSEN2_uc003bwz.3_Missense_Mutation_p.R311Q|TSEN2_uc003bxa.3_Missense_Mutation_p.R344Q|TSEN2_uc011auq.1_Missense_Mutation_p.R344Q|TSEN2_uc003bxb.3_Missense_Mutation_p.R370Q|TSEN2_uc011aur.1_Missense_Mutation_p.R279Q	NM_025265	NP_079541	Q8NCE0	SEN2_HUMAN	Homo sapiens tRNA splicing endonuclease 2 homolog (S. cerevisiae) (TSEN2), transcript variant 1, mRNA.	370					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						GTGCTATATCGGAAAGGCCCT	0.338000														67			10		0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219525943	219525943	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525943G>A	uc002vip.3	+	2	579	c.233G>A	c.(232-234)aGt>aAt	p.S78N	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.S78N|BCS1L_uc010fvu.3_Missense_Mutation_p.S78N|BCS1L_uc010fvv.3_Missense_Mutation_p.S78N|BCS1L_uc002vis.3_Missense_Mutation_p.S78N|BCS1L_uc021vwz.1_Missense_Mutation_p.S78N	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	78			S -> G (in GRACILE; dbSNP:rs28937590).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCAGTGTCGAGACT	0.532000														344			22		0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126681860	126681860	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126681860A>C	uc009yak.3	-	8	1237	c.950T>G	c.(949-951)aTc>aGc	p.I317S	CTBP2_uc009yal.3_Missense_Mutation_p.I317S|CTBP2_uc001lif.4_Missense_Mutation_p.I317S|CTBP2_uc001lih.4_Missense_Mutation_p.I317S|CTBP2_uc001lid.4_Missense_Mutation_p.I385S|CTBP2_uc001lie.4_Missense_Mutation_p.I857S	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	317					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		AGGAGTGCAGATGAGATTCGG	0.562000														66			7		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151475275	151475275	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151475275G>A	uc003ezc.3	+	4	1219	c.1099G>A	c.(1099-1101)Gag>Aag	p.E367K	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.E154K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	367						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGAACATATTGAGGATGGAAT	0.343000														97			16		0	0	1	0	0
EIF3K	27335	broad.mit.edu	37	19	39116677	39116677	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39116677C>T	uc002oiz.1	+	3	476	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W	EIF3K_uc010xuh.2_Missense_Mutation_p.R97W	NM_013234	NP_037366	Q9UBQ5	EIF3K_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit K (EIF3K), mRNA.	97					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex|nucleus	protein binding|ribosome binding|translation initiation factor activity		EIF3K/CYP39A1(2)	central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCAAGAAGAACGGCCAATCCG	0.582000														252			53		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50235155	50235155	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50235155T>G	uc001vdg.3	-	3	633	c.570A>C	c.(568-570)gaA>gaC	p.E190D	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_3'UTR	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	190					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	p.L189V(9)		endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTTTCTTGAGTTCTAGCCATG	0.408000														87			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100679840	100679840	+	Missense_Mutation	SNP	G	A	A	rs149023842	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100679840G>A	uc003uxp.1	+	2	5196	c.5143G>A	c.(5143-5145)Gtt>Att	p.V1715I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1715	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)					AACAACTCCCGTTGACAACAG	0.468000														578			152		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133337217	133337217	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133337217A>G	uc003eps.3	-	20	3564	c.3432T>C	c.(3430-3432)atT>atC	p.I1144I	TOPBP1_uc003ept.1_Silent_p.I148I	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1144					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						GGTCATCCCAAATGATCTGTT	0.458000								Other conserved DNA damage response genes						171			49		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47886656	47886656	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47886656G>A	uc003tny.2	-	31	5008	c.4974C>T	c.(4972-4974)ggC>ggT	p.G1658G		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1658					cell-cell adhesion	integral to membrane		p.G1658G(2)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGGATAAATAGCCTACACTGG	0.393000														48			14		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558242	56558242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558242G>A	uc001skb.3	-	26	3519	c.3413C>T	c.(3412-3414)tCc>tTc	p.S1138F	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1138	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTTCGCCATGGACACAGGCAG	0.637000														254			61		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231174738	231174738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231174738C>T	uc002vql.3	+	22	2273	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.P606S|SP140_uc002vqm.3_Missense_Mutation_p.P660S|SP140_uc010fxl.3_Missense_Mutation_p.P693S	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	720					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCACATCCCGCCTGTGGAAGC	0.547000														165			12		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75839891	75839891	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75839891C>T	uc021zbv.1	-	35	6161	c.6126G>A	c.(6124-6126)tcG>tcA	p.S2042S	COL12A1_uc021zbw.1_Silent_p.S878S|COL12A1_uc003phs.3_Silent_p.S2042S|COL12A1_uc003pht.3_Silent_p.S878S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2042	Fibronectin type-III 16.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCCAGGCTACCGAGAGGCTAT	0.438000														102			21		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7806616	7806616	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7806616C>T	uc002gjd.2	+	22	3701	c.3699C>T	c.(3697-3699)ggC>ggT	p.G1233G	CHD3_uc002gje.2_Silent_p.G1174G|CHD3_uc002gjf.2_Silent_p.G1174G|CHD3_uc002gjh.2_5'Flank|SCARNA21_uc002gji.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1174					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ATCGGATTGGCCAGGCCAACA	0.582000														121			36		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43687179	43687179	+	Silent	SNP	G	A	A	rs148070276		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687179G>A	uc003bdt.2	-	3	484	c.357C>T	c.(355-357)gaC>gaT	p.D119D	SCUBE1_uc003bdu.2_Silent_p.D119D	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	119	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCTGACACTCGTCCACATCTG	0.542000														87			20		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30388825	30388825	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30388825G>A	uc002wwp.1	+	17	2884	c.2186G>A	c.(2185-2187)aGt>aAt	p.S729N	TPX2_uc010gdv.1_Missense_Mutation_p.S765N	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	729					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATAAAGTCAAGTGACCAGCCT	0.502000														194			47		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37296038	37296038	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37296038G>A	uc002hrg.2	-	1	336	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	42					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCCAGCCCCGCACGGTCCCT	0.657000														125			23		0	0	1	0	0
NKX2-8	26257	broad.mit.edu	37	14	37050665	37050665	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37050665C>T	uc001wtx.3	-	1	354	c.162G>A	c.(160-162)tcG>tcA	p.S54S		NM_014360	NP_055175	O15522	NKX28_HUMAN	Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA.	54					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		TGCTCTCGTCCGAGGCTAGGG	0.706000														30			6		0	0	1	0	0
MTMR12	54545	broad.mit.edu	37	5	32230272	32230272	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32230272T>G	uc003jhq.3	-	15	2026	c.1856A>C	c.(1855-1857)aAg>aCg	p.K619T	MTMR12_uc010iuk.3_Missense_Mutation_p.K565T|MTMR12_uc010iul.3_Missense_Mutation_p.K509T	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	619	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTCAGTGGACTTGCTATGCCA	0.448000														184			36		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50188802	50188802	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50188802G>A	uc009zlk.2	-	7	3043	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G	NCKAP5L_uc001rvc.3_Silent_p.G151G|NCKAP5L_uc001rvb.2_Silent_p.G540G	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	943										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGAGCGGGGAGCCCCCGCCAG	0.652000														30			7		0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732467	37732467	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732467C>T	uc003xkm.2	-	2	1244	c.1188G>A	c.(1186-1188)ccG>ccA	p.P396P	RAB11FIP1_uc003xkn.2_Silent_p.P396P|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.P244P	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	396					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GTCGGTAGGACGGCAGGGTCA	0.577000														163			36		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	65982789	65982789	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65982789C>A	uc002api.3	-	22	4525	c.4140G>T	c.(4138-4140)tgG>tgT	p.W1380C	DENND4A_uc002aph.3_Missense_Mutation_p.W1337C|DENND4A_uc002apj.3_Missense_Mutation_p.W1337C	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATCTTGAATACCATTTGCTTG	0.373000														47			5		0.0215528	0.0217347	1	1	0
C11orf30	56946	broad.mit.edu	37	11	76257202	76257202	+	Missense_Mutation	SNP	C	T	T	rs150867470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76257202C>T	uc001oxl.3	+	19	3778	c.3635C>T	c.(3634-3636)tCg>tTg	p.S1212L	C11orf30_uc001oxm.3_Missense_Mutation_p.S1114L|C11orf30_uc010rsb.2_Missense_Mutation_p.S1227L|C11orf30_uc010rsc.2_Missense_Mutation_p.S1213L|C11orf30_uc001oxn.3_Missense_Mutation_p.S1213L|C11orf30_uc010rsd.2_Missense_Mutation_p.S1121L|C11orf30_uc010rse.2_Missense_Mutation_p.S459L|C11orf30_uc001oxp.3_Intron	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1212					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GAGTCCTGTTCGAGTCCATCC	0.522000														116			35		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82069166	82069166	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82069166C>T	uc002fgv.3	+	0	309	c.137C>T	c.(136-138)gCa>gTa	p.A46V		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	46					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GGCCTCTGTGCAGTCTGCCTG	0.512000														122			14		0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354416	57354416	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57354416T>G	uc003xsz.2	-	1	300	c.219A>C	c.(217-219)aaA>aaC	p.K73N	PENK_uc003xta.3_Missense_Mutation_p.K73N	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	73					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GAAGCTCTGGTTTGGACAGCT	0.468000														190			31		0	0	1	0	0
TPPP3	51673	broad.mit.edu	37	16	67424128	67424128	+	Silent	SNP	G	A	A	rs150292483		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67424128G>A	uc002etb.3	-	3	625	c.480C>T	c.(478-480)taC>taT	p.Y160Y	TPPP3_uc002esz.3_Silent_p.Y160Y|TPPP3_uc002eta.3_Silent_p.Y160Y	NM_015964	NP_057224	Q9BW30	TPPP3_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 3 (TPPP3), mRNA.	160					microtubule bundle formation	cytoplasm|microtubule	calcium ion binding|tubulin binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0336)|Epithelial(162;0.0781)		AGGCGCTCACGTAGCCACTGT	0.622000														184			20		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998829	120998829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120998829C>T	uc010rzo.2	+	7	2143	c.2143C>T	c.(2143-2145)Ctc>Ttc	p.L715F		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	715	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CGTGTGCCTGCTCAGCCAGAA	0.652000														163			42		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457518	110457518	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110457518T>C	uc003yne.3	+	37	5524	c.5420T>C	c.(5419-5421)gTt>gCt	p.V1807A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1807	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCTCTCCCAGTTGGACATCAT	0.453000										HNSCC(38;0.096)				103			31		0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97498296	97498296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498296C>T	uc003uot.4	-	2	679	c.173G>A	c.(172-174)gGa>gAa	p.G58E	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.G37E|ASNS_uc003uou.4_Missense_Mutation_p.G58E|ASNS_uc003uov.4_Missense_Mutation_p.G58E|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	58	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TGGCTGCATTCCAAACAGCGG	0.453000														83			32		0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416556	144416556	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144416556T>C	uc003qkr.1	-	0	199	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_031287	NP_112577	Q9BWJ5	SF3B5_HUMAN	Homo sapiens splicing factor 3b, subunit 5, 10kDa (SF3B5), mRNA.	27					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TCCCACTTGGTGGTGTCGGCG	0.592000														99			35		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60922054	60922054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60922054G>A	uc002ycq.3	-	6	1054	c.987C>T	c.(985-987)tgC>tgT	p.C329C	LAMA5_uc021wfw.1_Silent_p.C329C	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	329	Laminin EGF-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGTGCCCCCGCAGGTGTTGT	0.662000														86			12		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958586	121958586	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121958586T>G	uc003idq.1	-	3	1067	c.540A>C	c.(538-540)ccA>ccC	p.P180P		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	180										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						CATCTACTCTTGGGTCATAGG	0.488000														215			56		0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420850	203420850	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:203420850C>T	uc002uzf.4	+	11	3610	c.2462C>T	c.(2461-2463)gCc>gTc	p.A821V	BMPR2_uc010ftr.3_Intron	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	821					BMP signaling pathway|anterior/posterior pattern formation|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCCCATGCTGCCACAACCCAA	0.458000														103			20		0	0	1	0	0
NMS	129521	broad.mit.edu	37	2	101099741	101099741	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101099741T>G	uc002tan.1	+	10	485	c.478_splice	c.e10+1			NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.						neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						AAGCTGGATCTGATGAGGCCT	0.358000														56			12		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164735363	164735363	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164735363G>A	uc003fei.3	-	30	3795	c.3732C>T	c.(3730-3732)gaC>gaT	p.D1244D		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1244	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CCACCATAGCGTCATATAATT	0.348000										HNSCC(35;0.089)				63			4		0	0	1	0	0
NFKBID	84807	broad.mit.edu	37	19	36387361	36387361	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36387361G>A	uc002oci.1	-	6	912	c.338C>T	c.(337-339)gCc>gTc	p.A113V	NFKBID_uc002och.1_5'UTR	NM_139239	NP_640332	Q8NI38	IKBD_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta (NFKBID), mRNA.	113					inflammatory response	nucleus				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						ATGGTCAGCGGCATTGGGCTC	0.627000														176			20		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23821354	23821354	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821354C>T	uc001wjl.3	-	0	307	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Missense_Mutation_p.A24T|SLC22A17_uc001wjn.3_Non-coding_Transcript|SLC22A17_uc010akl.1_Missense_Mutation_p.A24T	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	24					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAGCCAGAGGCATTAGGGGGG	0.706000														38			4		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44248620	44248620	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44248620C>T	uc002ikc.3	-	1	1361	c.890G>A	c.(889-891)cGt>cAt	p.R297H	KANSL1_uc002ikd.3_Missense_Mutation_p.R297H|KANSL1_uc010dav.3_Missense_Mutation_p.R297H	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	297						MLL1 complex	protein binding										TCTGCGGGCACGGCTCTCAAT	0.478000														104			25		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167347	89167347	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167347C>T	uc010cig.2	+	1	466	c.258C>T	c.(256-258)tgC>tgT	p.C86C	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Silent_p.C86C|ACSF3_uc021tmq.1_Silent_p.C86C|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	86					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GCAGGCTCTGCGGGTGTGTCG	0.642000														171			11		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11711199	11711199	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11711199C>A	uc002gne.3	+	43	8639	c.8571C>A	c.(8569-8571)atC>atA	p.I2857I	DNAH9_uc010coo.3_Silent_p.I2151I	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2857	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTACCAGATCCAGGACTTCA	0.557000														79			33		6.00712e-18	7.23423e-18	1	1	0
OPLAH	26873	broad.mit.edu	37	8	145111082	145111082	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145111082G>A	uc003zar.3	-	14	2146	c.2064C>T	c.(2062-2064)ctC>ctT	p.L688L	OPLAH_uc003zas.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	688							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	AGGGCCCATGGAGCTTGTGCC	0.642000														150			24		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158312	114158312	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158312C>A	uc003ibe.4	+	5	753	c.653C>A	c.(652-654)gCt>gAt	p.A218D	ANK2_uc003ibd.4_Missense_Mutation_p.A197D|ANK2_uc003ibf.4_Missense_Mutation_p.A218D|ANK2_uc003ibc.2_Missense_Mutation_p.A194D|ANK2_uc011cgb.1_Missense_Mutation_p.A233D	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	218					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GACCACAATGCTGACGTACAA	0.488000														182			46		2.62258e-09	2.90845e-09	1	1	0
ATP11A	23250	broad.mit.edu	37	13	113478723	113478723	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113478723C>T	uc001vsj.4	+	9	944	c.856C>T	c.(856-858)Cga>Tga	p.R286*	ATP11A_uc001vsi.4_Nonsense_Mutation_p.R286*|ATP11A_uc001vsm.1_Nonsense_Mutation_p.R162*	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	286					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTCAGAAGCGATCTGCCGT	0.458000														97			7		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89872050	89872050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872050C>T	uc002bns.4	-	4	1318	c.1036G>A	c.(1036-1038)Gac>Aac	p.D346N	POLG_uc002bnr.4_Missense_Mutation_p.D346N	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	346					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TCCAGCCAGTCCCAGGATGAG	0.582000								DNA polymerases (catalytic subunits)						143			29		0	0	1	0	0
NME4	4833	broad.mit.edu	37	16	449418	449418	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:449418C>T	uc002cgz.3	+	2	296	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	NME4_uc021szp.1_Non-coding_Transcript|DECR2_uc021szq.1_5'Flank|DECR2_uc002chb.3_5'Flank|DECR2_uc002chc.3_5'Flank|DECR2_uc002chd.3_5'Flank	NM_005009	NP_005000	O00746	NDKM_HUMAN	Homo sapiens non-metastatic cells 4, protein expressed in (NME4), nuclear gene encoding mitochondrial protein, mRNA.	89					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	mitochondrial inner membrane|mitochondrial intermembrane space	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			NS(1)|lung(1)|stomach(1)|urinary_tract(1)	4		Hepatocellular(16;0.00015)				CCAGGACCTGCGGAGGAAGCC	0.632000														291			85		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264881	231264881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264881G>A	uc010fxm.1	+	14	1328	c.1237G>A	c.(1237-1239)Ggg>Agg	p.G413R	SP140L_uc010fxo.1_Missense_Mutation_p.G185R	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	413						nucleus	DNA binding|metal ion binding	p.G413W(3)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCGGGACGGAGGGGAGCTGTT	0.522000														170			46		0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45924210	45924210	+	Missense_Mutation	SNP	G	A	A	rs141639373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45924210G>A	uc001nbr.3	+	4	1217	c.892G>A	c.(892-894)Gcc>Acc	p.A298T		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	298					vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	MAP-kinase scaffold activity|kinesin binding|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GCCCACCTCCGCCTTCCTGCC	0.662000														76			29		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128125011	128125011	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128125011G>A	uc004bpp.3	+	26	4610	c.4450G>A	c.(4450-4452)Gat>Aat	p.D1484N	GAPVD1_uc004bpq.3_Missense_Mutation_p.D1457N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D1475N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D1436N|GAPVD1_uc004bps.3_Missense_Mutation_p.D1430N|GAPVD1_uc004bpt.3_Missense_Mutation_p.D490N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1475					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAAAACCATCGATGACCGAAA	0.463000														63			19		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11684429	11684429	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11684429G>T	uc002gne.3	+	38	7724	c.7656G>T	c.(7654-7656)gtG>gtT	p.V2552V	DNAH9_uc010coo.3_Silent_p.V1846V	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2552	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCCTGAGGTGGATGCCTACG	0.552000														74			11		2.80697e-09	3.10977e-09	1	1	0
SLC30A3	7781	broad.mit.edu	37	2	27479733	27479733	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27479733C>A	uc002rjk.3	-	5	992	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC30A3_uc002rjj.3_Missense_Mutation_p.A115S|SLC30A3_uc010ylh.2_Missense_Mutation_p.S264I	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	269					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGGAAGGTGCTGATGGGGTC	0.562000														53			29		1.5548e-18	1.87917e-18	1	1	0
PCBP2	5094	broad.mit.edu	37	12	53861069	53861069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53861069G>A	uc001sdl.4	+	10	1141	c.791G>A	c.(790-792)gGa>gAa	p.G264E	PCBP2_uc001sde.4_Missense_Mutation_p.G260E|PCBP2_uc001sdi.4_Missense_Mutation_p.G233E|PCBP2_uc001sdd.4_Missense_Mutation_p.G229E|PCBP2_uc001sdf.4_Missense_Mutation_p.G229E|PCBP2_uc001sdc.4_Missense_Mutation_p.G264E|PCBP2_uc001sdb.4_Missense_Mutation_p.G260E|PCBP2_uc010soi.2_Missense_Mutation_p.G14E|PCBP2_uc010soj.2_Missense_Mutation_p.G14E|PCBP2_uc001sdk.4_Missense_Mutation_p.G49E|PCBP2_uc010soh.1_Missense_Mutation_p.G260E	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	264					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GGCAACACCGGATTCAGTGGT	0.463000														123			32		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734899	92734899	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734899T>A	uc003umf.3	-	2	782	c.512A>T	c.(511-513)aAt>aTt	p.N171I	SAMD9_uc003umg.3_Missense_Mutation_p.N171I|SAMD9_uc022ahg.1_Missense_Mutation_p.N171I	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	171						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ACGATATGGATTACTGAATTC	0.363000														160			13		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033579	30033579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033579C>T	uc021qfi.1	-	0	647	c.647G>A	c.(646-648)cGc>cAc	p.R216H	KCNA4_uc001msk.3_Missense_Mutation_p.R216H	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	216						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ATACTCATTGCGCAAAGGGTC	0.478000														97			23		0	0	1	0	0
LNP1	348801	broad.mit.edu	37	3	100170652	100170652	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100170652A>G	uc003dtx.4	+	2	1526	c.246A>G	c.(244-246)gtA>gtG	p.V82V		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	82										cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTAGCCACGTACGGGATTACA	0.443000														99			25		0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38483358	38483358	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38483358A>C	uc001ccn.4	+	2	235	c.144A>C	c.(142-144)caA>caC	p.Q48H	UTP11L_uc009vvm.3_5'UTR|UTP11L_uc010oil.2_Non-coding_Transcript|UTP11L_uc001cco.4_5'UTR	NM_016037	NP_057121	Q9Y3A2	UTP11_HUMAN	Homo sapiens UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast) (UTP11L), mRNA.	48					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTAAAAAACAAGAATACCTCA	0.348000														63			13		0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3413807	3413807	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3413807G>T	uc001akl.3	-	26	3698	c.3471C>A	c.(3469-3471)ggC>ggA	p.G1157G	MEGF6_uc001akk.3_Silent_p.G966G	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1157	EGF-like 21.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CCTGCTCGCAGCCGGAGCCAG	0.721000														66			11		3.07112e-06	3.25591e-06	1	1	0
TTC30A	92104	broad.mit.edu	37	2	178482197	178482197	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178482197C>A	uc002ulo.3	-	0	1498	c.1233G>T	c.(1231-1233)aaG>aaT	p.K411N		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	411					cell projection organization	cilium	binding	p.K410T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATTCACTGCCTTTTTGATAG	0.428000														247			74		6.43283e-47	8.20116e-47	1	1	0
TNR	7143	broad.mit.edu	37	1	175365935	175365935	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175365935G>T	uc001gkp.1	-	2	1066	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TNR_uc009wwu.1_Missense_Mutation_p.P329T|TNR_uc010pmz.1_Intron	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	329	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.P329R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTCCTCTGGAGGGGCAACT	0.557000														266			39		2.54651e-27	3.18929e-27	1	1	0
ZMYM3	9203	broad.mit.edu	37	X	70471421	70471421	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70471421T>G	uc004dzh.2	-	2	877	c.698A>C	c.(697-699)aAg>aCg	p.K233T	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.K233T|ZMYM3_uc004dzj.2_Missense_Mutation_p.K233T|ZMYM3_uc011mpu.2_5'UTR|ZMYM3_uc004dzl.4_Missense_Mutation_p.K233T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	233					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCAGGCGGCTTCTCACTCGC	0.597000														8			4		0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4028840	4028840	+	Silent	SNP	C	T	T	rs148838008		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4028840C>T	uc002lzg.3	+	5	805	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	265	PINIT.				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGAACTACGGCAAGGTGA	0.687000														123			22		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54856651	54856651	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54856651G>A	uc002rxu.3	+	13	2629	c.2380G>A	c.(2380-2382)Gcc>Acc	p.A794T	SPTBN1_uc002rxv.1_Missense_Mutation_p.A794T|SPTBN1_uc002rxx.3_Missense_Mutation_p.A781T	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	794					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGAAGAGATCGCCAATTACAG	0.597000														212			41		0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35873657	35873657	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35873657A>G	uc001byt.3	+	25	3925	c.3845A>G	c.(3844-3846)gAg>gGg	p.E1282G	ZMYM4_uc009vuu.3_Missense_Mutation_p.E1250G|ZMYM4_uc001byu.3_Missense_Mutation_p.E958G|ZMYM4_uc009vuv.3_Missense_Mutation_p.E1021G	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	1282					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTTTTGCTGAGTTGAGTTTG	0.398000														176			20		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24832433	24832433	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24832433C>T	uc001iru.4	+	18	4637	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.Q1095*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.Q248*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1412					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGAAGACATACAGACGGTTAA	0.473000														91			25		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349340	189349340	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349340G>A	uc003fry.2	+	0	125	c.36G>A	c.(34-36)caG>caA	p.Q12Q	TP63_uc003frx.2_Silent_p.Q12Q|TP63_uc003frz.2_Silent_p.Q12Q|TP63_uc010hzc.1_Silent_p.Q12Q	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	12	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCACCCTACAGTACTGCCCTG	0.383000										HNSCC(45;0.13)				186			46		0	0	1	0	0
SQSTM1	8878	broad.mit.edu	37	5	179260104	179260104	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260104C>A	uc003mkw.4	+	5	922	c.827C>A	c.(826-828)tCc>tAc	p.S276Y	SQSTM1_uc011dgr.2_Missense_Mutation_p.S192Y|SQSTM1_uc011dgs.2_Missense_Mutation_p.S192Y|SQSTM1_uc003mkx.3_Missense_Mutation_p.S192Y	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	276	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGAGAGTTCCAGCACAGAG	0.602000														76			31		9.78306e-22	1.20233e-21	1	1	0
PGK1	5230	broad.mit.edu	37	X	77369532	77369532	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369532G>T	uc004ecz.4	+	3	464	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	PGK1_uc011mqq.2_Missense_Mutation_p.D70Y	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	98					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GTTCTTGAAGGACTGTGTAGG	0.502000														285			17		1.15088e-07	1.24477e-07	1	1	0
SIK3	23387	broad.mit.edu	37	11	116718256	116718256	+	Silent	SNP	C	T	T	rs139869704	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116718256C>T	uc001ppy.3	-	21	3606	c.3570G>A	c.(3568-3570)tcG>tcA	p.S1190S	SIK3_uc001ppz.3_Silent_p.S1029S|SIK3_uc001pqa.3_Silent_p.S1130S|SIK3_uc001ppw.3_Silent_p.S547S|SIK3_uc001ppx.3_Silent_p.S568S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1190						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1296S(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GAACTGCATCCGACATCCGGG	0.512000														310			55		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192497	52192497	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192497A>G	uc002xwq.4	-	2	3148	c.2806T>C	c.(2806-2808)Tac>Cac	p.Y936H	ZNF217_uc010gij.1_Missense_Mutation_p.Y928H	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	936					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCTCTTCTGTAATTGGCCCCG	0.547000														106			21		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498785	118498785	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118498785C>T	uc001ptr.2	+	6	1599	c.1246C>T	c.(1246-1248)Cta>Tta	p.L416L	PHLDB1_uc001pts.3_Silent_p.L416L|PHLDB1_uc001ptt.3_Silent_p.L416L|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Silent_p.L216L|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	416								p.L416V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGAGCGGGTGCTAACAACCAG	0.637000														331			69		0	0	1	0	0
RNASEL	6041	broad.mit.edu	37	1	182555156	182555156	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182555156C>A	uc009wxz.2	-	1	1043	c.786G>T	c.(784-786)gaG>gaT	p.E262D	RNASEL_uc001gpk.3_Missense_Mutation_p.E262D|RNASEL_uc009wya.1_Missense_Mutation_p.E262D	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	262	2-5A binding (P-loop) 2.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TCTCTATGTGCTCTTGCTCCA	0.502000														147			13		1.61879e-10	1.82465e-10	1	1	0
ZNF107	51427	broad.mit.edu	37	7	64168445	64168445	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64168445C>A	uc003ttd.3	+	6	2549	c.1763C>A	c.(1762-1764)gCt>gAt	p.A588D	ZNF107_uc003tte.3_Missense_Mutation_p.A588D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATGGAAAAGCTTTTAACCTA	0.338000														74			17		7.81268e-19	9.46314e-19	1	1	0
KRT34	3885	broad.mit.edu	37	17	39538461	39538461	+	Missense_Mutation	SNP	C	T	T	rs139913573		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538461C>T	uc002hwm.3	-	0	176	c.164G>A	c.(163-165)cGc>cAc	p.R55H		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	55	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity	p.R55H(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCCCAG	0.627000														197			43		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116988313	116988313	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116988313G>T	uc003pxf.2	-	1	303	c.43C>A	c.(43-45)Cca>Aca	p.P15T	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	15						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		TTCATGTCTGGTTCTGAGGTT	0.328000														87			20		1.64113e-05	1.72175e-05	1	1	0
TCRBV12S3	0	broad.mit.edu	37	7	142206946	142206946	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142206946G>T	uc003vyj.2	-	0	62	c.15C>A	c.(13-15)ctC>ctA	p.L5L	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		CATAGAAGAAGAGCCTGGTGC	0.547000														91			22		2.89027e-11	3.28353e-11	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20643955	20643955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20643955C>T	uc001ytg.3	-	22	3524	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.D939N					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CCAAAGTCATCGTGCACAACT	0.577000														91			18		0	0	1	0	0
HOXA13	3209	broad.mit.edu	37	7	27239044	27239044	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27239044G>A	uc003szb.1	-	0	682	c.653C>T	c.(652-654)gCc>gTc	p.A218V	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	218					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GAACTCCTCGGCAGCTGGGCC	0.692000			T	NUP98	AML									109			32		0	0	1	0	0
ALDH3B1	221	broad.mit.edu	37	11	67789274	67789274	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67789274C>T	uc010rpy.2	+	7	996	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	ALDH3B1_uc001omz.3_Missense_Mutation_p.R294W|ALDH3B1_uc001ona.3_Missense_Mutation_p.R258W|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	295					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	CCAGCGGCTGCGGGCATTGCT	0.647000														213			43		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839523	128839523	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839523G>A	uc009zcp.3	-	21	5543	c.5543C>T	c.(5542-5544)aCg>aTg	p.T1848M	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.T807M|ARHGAP32_uc001qez.3_Missense_Mutation_p.T1499M	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1848	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTCCGGCTGCGTGCTACCATG	0.617000														142			28		0	0	1	0	0
NGRN	51335	broad.mit.edu	37	15	90814847	90814847	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90814847C>T	uc002bpf.1	+	2	753	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	TTLL13_uc002bpe.1_Non-coding_Transcript|NGRN_uc002bpg.1_Nonsense_Mutation_p.Q163*	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	Homo sapiens neugrin, neurite outgrowth associated (NGRN), transcript variant 2, mRNA.	235					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			AAGAGAGCTGCAGAAGTACTC	0.517000														71			6		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65462580	65462580	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65462580G>T	uc001ssk.3	-	3	877	c.502C>A	c.(502-504)Cct>Act	p.P168T		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	168	WIF.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GCATTTTGAGGTGTTTGGAGA	0.413000			T	HMGA2	pleomorphic salivary gland adenoma									94			18		2.4624e-09	2.73094e-09	1	1	0
DACT1	51339	broad.mit.edu	37	14	59105255	59105255	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59105255G>A	uc001xdw.3	+	0	499	c.335G>A	c.(334-336)aGa>aAa	p.R112K	DACT1_uc010trv.2_Intron|DACT1_uc001xdx.3_Missense_Mutation_p.R112K|DACT1_uc010trw.2_5'Flank	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	112					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTGCTGCTAAGAAAGCAATTG	0.677000														43			9		0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523714	55523714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55523714G>A	uc001cyf.2	+	7	1548	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	396	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ACCAGGCATTGCAGCCATGAT	0.592000														202			24		0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70673252	70673252	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673252T>C	uc001jou.3	+	5	970	c.863T>C	c.(862-864)gTg>gCg	p.V288A	DDX50_uc001jot.3_Missense_Mutation_p.V288A	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	288	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						CGACATGTTGTGCTTGATGAA	0.378000														99			16		0	0	1	0	0
ANO8	57719	broad.mit.edu	37	19	17435885	17435885	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17435885G>A	uc002ngf.2	-	16	3131	c.2972C>T	c.(2971-2973)tCa>tTa	p.S991L	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	991						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TGTGGCCCCTGACGAGAGGAA	0.667000														442			65		0	0	1	0	0
SPATA13	221178	broad.mit.edu	37	13	24860906	24860906	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24860906C>T	uc001upd.2	+	8	3063	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Nonsense_Mutation_p.R829*|SPATA13_uc001upg.2_Nonsense_Mutation_p.R204*|SPATA13_uc010tcy.1_Nonsense_Mutation_p.R150*|SPATA13_uc010tcz.2_Intron|SPATA13_uc010tdb.2_Intron|SPATA13_uc010tda.2_Nonsense_Mutation_p.R148*|SPATA13_uc001uph.3_Nonsense_Mutation_p.R126*|SPATA13_uc009zzz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	204					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTTGCAGTTGCGAGTGAATCA	0.597000														68			12		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2721099	2721099	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2721099G>A	uc009zdu.1	+	29	4121	c.3808G>A	c.(3808-3810)Gcc>Acc	p.A1270T	CACNA1C_uc001qkc.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qjz.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkd.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qke.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkf.2_Missense_Mutation_p.A1250T|CACNA1C_uc009zdw.1_Missense_Mutation_p.A1250T|CACNA1C_uc001qkg.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkh.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkl.2_Missense_Mutation_p.A1270T|CACNA1C_uc001qkj.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkk.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkn.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkm.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qko.2_Missense_Mutation_p.A1270T|CACNA1C_uc001qkp.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkq.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qku.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkr.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qks.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qkt.2_Missense_Mutation_p.A1250T|CACNA1C_uc009zdv.1_Missense_Mutation_p.A1247T|CACNA1C_uc001qkb.2_Missense_Mutation_p.A1250T|CACNA1C_uc001qka.1_Missense_Mutation_p.A785T|CACNA1C_uc001qki.1_Missense_Mutation_p.A986T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1270					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTTCAAAATCGCCATGAACAT	0.567000														83			12		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48787772	48787772	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48787772G>A	uc001zwx.2	-	20	2828	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	811	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACTTGATTCGCATTCATCAA	0.383000														213			35		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238491	129238491	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238491G>T	uc003eml.3	+	29	3911	c.3705G>T	c.(3703-3705)aaG>aaT	p.K1235N	IFT122_uc003emm.3_Missense_Mutation_p.K1184N|IFT122_uc003emn.3_Missense_Mutation_p.K1125N|IFT122_uc003emo.3_Missense_Mutation_p.K1074N|IFT122_uc003emp.3_Missense_Mutation_p.K1034N|IFT122_uc010htc.3_Missense_Mutation_p.K1177N|IFT122_uc011bky.2_Missense_Mutation_p.K975N|IFT122_uc011bla.2_Missense_Mutation_p.K958N|IFT122_uc003emr.3_Missense_Mutation_p.K937N|IFT122_uc010hte.3_Missense_Mutation_p.K510N|IFT122_uc003ems.3_Missense_Mutation_p.K566N	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1184					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TCCTCATCAAGCGATGGCCCC	0.652000														155			33		4.74835e-14	5.56603e-14	1	1	0
PCSK5	5125	broad.mit.edu	37	9	78506218	78506218	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78506218G>A	uc004akc.2	+	0	659	c.121G>A	c.(121-123)Gtc>Atc	p.V41I	PCSK5_uc004ajy.2_Missense_Mutation_p.V41I|PCSK5_uc004ajz.3_Missense_Mutation_p.V41I|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	41					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						CCACTGGGCAGTCAAAATCGC	0.637000														215			46		0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73239206	73239206	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73239206G>T	uc002jni.2	-	5	505	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	GGA3_uc002jnk.2_Missense_Mutation_p.L84M|GGA3_uc002jnj.2_Missense_Mutation_p.L123M|GGA3_uc010wry.2_Missense_Mutation_p.L84M|GGA3_uc010wrw.2_Missense_Mutation_p.L34M|GGA3_uc010wrx.2_Missense_Mutation_p.L34M|GGA3_uc010wrz.2_Intron	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	156	Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			GAGGGGATCAGCGTCCTATCC	0.547000														188			42		3.54561e-26	4.4286e-26	1	1	0
PRKACG	5568	broad.mit.edu	37	9	71628546	71628546	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628546C>T	uc004agy.3	-	0	494	c.463G>A	c.(463-465)Gtc>Atc	p.V155I		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	155	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTACTGGACGGCCAGGACG	0.622000														57			16		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339112	13339112	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13339112T>G	uc003gms.3	+	0		c.4076T>G								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						TCATTCCTCCTTAGGCTCCCT	0.423000														91			25		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948557	204948557	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204948557C>T	uc010prc.2	+	17	2276	c.747C>T	c.(745-747)ccC>ccT	p.P249P	NFASC_uc001hbj.3_Silent_p.P682P|NFASC_uc010pra.2_Silent_p.P678P|NFASC_uc001hbi.3_Silent_p.P678P|NFASC_uc010prb.2_Silent_p.P693P|NFASC_uc001hbk.1_Silent_p.P488P|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	682	Ig-like C2-type 3.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.P678P(3)|p.P682P(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTACCCCGGCAGCGTTA	0.572000														282			64		0	0	1	0	0
BNIP3	664	broad.mit.edu	37	10	133784250	133784250	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133784250C>T	uc001lkv.1	-	4	556	c.431G>A	c.(430-432)aGc>aAc	p.S144N	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.S144N	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.	144					DNA fragmentation involved in apoptotic nuclear change|cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTCCTCATGCTGAGGGTGGC	0.537000														78			22		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33520392G>A	uc002hjd.2	-	0	1021	c.935C>T	c.(934-936)gCg>gTg	p.A312V		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	312	DUF6 2.					integral to membrane		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567000														246			53		0	0	1	0	0
CALU	813	broad.mit.edu	37	7	128407587	128407587	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128407587C>T	uc022ald.1	+	6	1688	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	CALU_uc022alg.1_Missense_Mutation_p.R167W|CALU_uc022alh.1_Missense_Mutation_p.R167W|CALU_uc022ali.1_Missense_Mutation_p.R89W|CALU_uc003vns.3_Missense_Mutation_p.R241W|CALU_uc003vnr.3_Missense_Mutation_p.R249W|CALU_uc003vnq.3_Missense_Mutation_p.R241W|CALU_uc022ale.1_Intron|CALU_uc022alf.1_Missense_Mutation_p.R90W	NM_001199672	NP_001186601	O43852	CALU_HUMAN	Homo sapiens calumenin (CALU), transcript variant 4, mRNA.	241	EF-hand 5.				platelet activation|platelet degranulation	Golgi apparatus|extracellular region|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TGTTGAGTTTCGGGATAAGAA	0.488000														108			20		0	0	1	0	0
RNF19B	127544	broad.mit.edu	37	1	33412058	33412058	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33412058G>T	uc010oho.2	-	3	1094	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D	RNF19B_uc001bwm.4_Missense_Mutation_p.A364D|RNF19B_uc010ohp.2_Missense_Mutation_p.A364D	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	365						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GGCAATGCCAGCAATGAGAGA	0.473000														50			9		2.17888e-05	2.28139e-05	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71713307	71713307	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71713307A>G	uc002fax.3	-	5	1028	c.1022T>C	c.(1021-1023)aTt>aCt	p.I341T	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.I341T|PHLPP2_uc002fay.1_Missense_Mutation_p.I341T	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	341						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CAGATTGCCAATTTGACTTGG	0.388000														77			16		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94732006	94732006	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94732006C>A	uc021qow.1	+	0	1470	c.1470C>A	c.(1468-1470)ccC>ccA	p.P490P	KDM4D_uc001pfe.3_Silent_p.P490P	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	490					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACCTGAGCCCCTACCTGAGG	0.622000														87			23		5.35356e-11	6.06456e-11	1	1	0
KIAA1432	57589	broad.mit.edu	37	9	5774231	5774231	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5774231C>A	uc003zjl.4	+	24	4337	c.4146C>A	c.(4144-4146)gaC>gaA	p.D1382E	KIAA1432_uc003zji.3_Missense_Mutation_p.D1340E	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1419						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GGACTTACGACTGTTCTGTGT	0.488000														93			14		6.31663e-08	6.86475e-08	1	1	0
CDKL2	8999	broad.mit.edu	37	4	76523300	76523300	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76523300A>G	uc011cbp.2	-	7	1506	c.981T>C	c.(979-981)gaT>gaC	p.D327D	CDKL2_uc003hiq.3_Silent_p.D327D|CDKL2_uc010iix.1_Non-coding_Transcript	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	327					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CTAAGGAATCATCTTTTTCTT	0.274000														30			6		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74114695	74114695	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114695C>T	uc003uau.3	+	4	862	c.492C>T	c.(490-492)aaC>aaT	p.N164N	GTF2I_uc003uat.3_Silent_p.N164N|GTF2I_uc003uav.3_Silent_p.N164N|GTF2I_uc003uaw.3_Silent_p.N164N|GTF2I_uc003uay.3_Silent_p.N164N|GTF2I_uc003uax.3_Silent_p.N164N|BC070376_uc003uaz.3_Non-coding_Transcript	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	164					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						ACCCCGAGAACTATGATCTTG	0.478000														207			64		0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5928016	5928016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5928016G>A	uc002mdw.3	-	8	1003	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RANBP3_uc002mdv.3_5'UTR|RANBP3_uc002mdx.3_Missense_Mutation_p.A254V|RANBP3_uc002mdy.3_Missense_Mutation_p.A191V|RANBP3_uc002mdz.3_Missense_Mutation_p.A186V|RANBP3_uc010duq.3_Missense_Mutation_p.A164V|RANBP3_uc010xix.2_Missense_Mutation_p.A131V	NM_007322	NP_015561	Q9H6Z4	RANB3_HUMAN	Homo sapiens RAN binding protein 3 (RANBP3), transcript variant RANBP3-d, mRNA.	259					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						AAATACAAAGGCTTGCTGTGT	0.468000														173			35		0	0	1	0	0
VPS11	55823	broad.mit.edu	37	11	118949921	118949921	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118949921C>T	uc010ryx.2	+	14	2385	c.2343C>T	c.(2341-2343)agC>agT	p.S781S	VPS11_uc010ryy.2_Silent_p.S629S	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	783					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AGAAACAGAGCCAGCAGATTG	0.602000														40			11		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47427969	47427969	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47427969C>T	uc003gxh.3	+	8	1733	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S	GABRB1_uc011bze.2_Silent_p.S383S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	453					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACAAGTGGTCCCGAATGTTTT	0.483000														274			38		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7981244	7981244	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981244A>G	uc001mfv.1	-	1	1932	c.1915T>C	c.(1915-1917)Tct>Cct	p.S639P		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	639							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)		TTTCCAGTAGAAGCTTCCTTT	0.393000														72			5		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55156639	55156639	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55156639G>A	uc003han.4	+	21	3371	c.3040G>A	c.(3040-3042)Gct>Act	p.A1014T	PDGFRA_uc003haa.3_Missense_Mutation_p.A774T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1014					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A1014_S1016delADS(4)|p.S1013S(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAGACTGAGCGCTGACAGTGG	0.557000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				199			43		0	0	1	0	0
TFB2M	64216	broad.mit.edu	37	1	246707824	246707824	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:246707824G>A	uc001ibn.3	-	7	1144	c.1019_splice	c.e7+1	p.R340_splice		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	Homo sapiens transcription factor B2, mitochondrial (TFB2M), nuclear gene encoding mitochondrial protein, mRNA.	340					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTTACTCACCGTAAGTGGTCT	0.333000														90			6		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17590366	17590366	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17590366C>T	uc002zly.3	+	12	2388	c.2257C>T	c.(2257-2259)Ctc>Ttc	p.L753F		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	753					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		AGGCTTGATGCTCTCGCTCTT	0.662000														60			20		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587172	55587172	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55587172C>T	uc010qhy.1	-	32	4758	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1455K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1450K|PCDH15_uc021pqv.1_Missense_Mutation_p.E1450K|PCDH15_uc021pqw.1_Missense_Mutation_p.E1462K|PCDH15_uc010qht.2_Missense_Mutation_p.E1457K|PCDH15_uc021pqx.1_Missense_Mutation_p.E1450K|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1450K|PCDH15_uc021pqz.1_Missense_Mutation_p.E1425K|PCDH15_uc010qhv.1_Missense_Mutation_p.E1447K|PCDH15_uc010qhw.1_Missense_Mutation_p.E1410K|PCDH15_uc010qhx.1_Missense_Mutation_p.E1379K|PCDH15_uc010qhz.1_Missense_Mutation_p.E1450K|PCDH15_uc010qia.1_Missense_Mutation_p.E1428K|PCDH15_uc001jju.1_Missense_Mutation_p.E1450K|PCDH15_uc010qib.1_Missense_Mutation_p.E1425K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1450					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTCCAAGTTCTTCATAGAGA	0.552000										HNSCC(58;0.16)				208			52		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22658710	22658710	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22658710G>A	uc002yld.2	+	3	708	c.459G>A	c.(457-459)gaG>gaA	p.E153E	NCAM2_uc011acb.2_Intron|NCAM2_uc011acc.2_Silent_p.E178E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	153	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCATAATGAGGAAGTCACCA	0.388000														73			16		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7803329	7803329	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7803329G>A	uc002gjd.2	+	15	2839	c.2837G>A	c.(2836-2838)cGa>cAa	p.R946Q	CHD3_uc002gje.2_Missense_Mutation_p.R887Q|CHD3_uc002gjf.2_Missense_Mutation_p.R887Q	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	887					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GAGGCCCATCGACTCAAGAAC	0.468000														54			6		0	0	1	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974141	46974141	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46974141C>A	uc002peq.4	-	1	458	c.152G>T	c.(151-153)gGc>gTc	p.G51V	PNMAL1_uc002per.4_Missense_Mutation_p.G51V	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	51										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gcggtacgggcccagtgggga	0.542000														95			14		4.3838e-07	4.70703e-07	1	1	0
TRERF1	55809	broad.mit.edu	37	6	42196122	42196122	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42196122A>C	uc003ose.2	-	17	4187	c.3624T>G	c.(3622-3624)gaT>gaG	p.D1208E	TRERF1_uc011duq.1_Missense_Mutation_p.D1105E|TRERF1_uc003osb.2_Missense_Mutation_p.D956E|TRERF1_uc003osc.2_Missense_Mutation_p.D944E|TRERF1_uc003osd.2_Missense_Mutation_p.D1188E	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1188					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGAATCTTGATCATCCAAGA	0.498000														182			46		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152085355	152085355	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152085355C>T	uc009wne.1	-	2	610	c.338G>A	c.(337-339)cGc>cAc	p.R113H	TCHH_uc001ezp.2_Missense_Mutation_p.R113H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	113					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTGCCTGCGATCTTGTAA	0.567000														324			117		0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139100954	139100954	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139100954C>T	uc010nbi.2	-	11	1755	c.1717G>A	c.(1717-1719)Gca>Aca	p.A573T		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	573					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CCCTGGTCTGCGGAATACGTG	0.572000														180			31		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65789270	65789270	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65789270G>T	uc001ogt.3	-	2	1648	c.1510C>A	c.(1510-1512)Ctc>Atc	p.L504I		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	504					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.L504I(2)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGTACGAGAGGCCCAGGGCG	0.577000														132			39		6.04917e-29	7.60238e-29	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140604406	140604406	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604406C>T	uc003ljb.3	+	0	1329	c.1329C>T	c.(1327-1329)gaC>gaT	p.D443D		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	443	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCTCTGACGTCAATGACA	0.582000														405			123		0	0	1	0	0
SIX1	6495	broad.mit.edu	37	14	61115456	61115456	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61115456G>A	uc001xfb.4	-	0	700	c.452C>T	c.(451-453)cCg>cTg	p.P151L		NM_005982	NP_005973	Q15475	SIX1_HUMAN	Homo sapiens SIX homeobox 1 (SIX1), mRNA.	151					branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CTTCTCACGCGGCGATGGGTA	0.662000														129			22		0	0	1	0	0
TDG	6996	broad.mit.edu	37	12	104380828	104380828	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104380828A>G	uc001tkg.3	+	9	1416	c.1193A>G	c.(1192-1194)cAc>cGc	p.H398R	TDG_uc009zuk.3_Missense_Mutation_p.H394R|TDG_uc010swi.2_Missense_Mutation_p.H255R|TDG_uc010swj.2_Missense_Mutation_p.H186R	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	398					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TTTAGTAATCACTGTGGAACA	0.433000								Base excision repair (BER), DNA glycosylases						126			21		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55128552	55128552	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55128552T>C	uc003pcl.3	+	3	1009	c.694T>C	c.(694-696)Tac>Cac	p.Y232H	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.Y167H	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	232					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.Y232Y(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TCTGGTGACATACATGGCACC	0.373000														28			12		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79461814	79461814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79461814G>A	uc003hlb.2	+	73	12015	c.11575G>A	c.(11575-11577)Gat>Aat	p.D3859N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3854					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTAGAGCCCGATGGCCAGCT	0.537000														68			17		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42990750	42990750	+	Missense_Mutation	SNP	C	T	T	rs56679084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42990750C>T	uc021tyh.1	-	3	733	c.667G>A	c.(667-669)Gag>Aag	p.E223K	GFAP_uc002ihq.3_Missense_Mutation_p.E223K|GFAP_uc002ihr.3_Missense_Mutation_p.E223K|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	223	Linker 12.|Rod.		E -> Q (in ALEXD; adult form; dbSNP:rs56679084).			cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGTCAAGCTCCACATGGACC	0.612000														150			33		0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198540075	198540075	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198540075G>A	uc002uuo.4	-	0	510	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	36						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ATACATATTCGTAAGCAAATT	0.368000														170			12		0	0	1	0	0
FAM69B	138311	broad.mit.edu	37	9	139617731	139617731	+	Silent	SNP	G	A	A	rs112780986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617731G>A	uc004cik.3	+	4	895	c.801G>A	c.(799-801)gcG>gcA	p.A267A	FAM69B_uc004cil.3_Silent_p.A180A|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA.	267						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TGGGGCCTGCGTGGCCTTGGC	0.677000														170			11		0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29250056	29250056	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29250056C>T	uc010csk.3	+	1	472	c.193C>T	c.(193-195)Cga>Tga	p.R65*	ADAP2_uc002hfy.3_Nonsense_Mutation_p.R65*|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Nonsense_Mutation_p.R65*	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	65	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TAAATCTGTGCGACTTGACTT	0.567000														306			63		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1487861	1487861	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1487861C>A	uc002ltb.1	-	5	579	c.517_splice	c.e5-1	p.D173_splice	PCSK4_uc002lta.2_Splice_Site_p.T14_splice	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	173	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGTCCTGGGGGCAGG	0.692000														77			18		1.99824e-07	2.15697e-07	1	1	0
KRT83	3889	broad.mit.edu	37	12	52710773	52710773	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52710773G>T	uc001saf.2	-	4	848	c.785C>A	c.(784-786)aCc>aAc	p.T262N		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	262	Linker 12.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AACCACGGAGGTGTCTGAGAT	0.547000														194			41		1.07121e-22	1.32195e-22	1	1	0
C3orf17	25871	broad.mit.edu	37	3	112729539	112729539	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112729539T>G	uc003dzr.3	-	6	987	c.926A>C	c.(925-927)gAa>gCa	p.E309A	C3orf17_uc011bia.2_Missense_Mutation_p.E106A|C3orf17_uc003dzu.3_Missense_Mutation_p.E238A|C3orf17_uc011bib.2_Missense_Mutation_p.E198A|C3orf17_uc011bic.2_Missense_Mutation_p.E142A|C3orf17_uc011bid.2_Intron|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Missense_Mutation_p.E212A|C3orf17_uc003dzs.3_Missense_Mutation_p.E173A|C3orf17_uc010hqg.3_Missense_Mutation_p.E134A	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	309						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CACATCAAATTCTGATGACTC	0.363000														58			7		0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19642967	19642967	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19642967C>T	uc002gwk.3	-	5	1584	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	ALDH3A1_uc010cqu.3_Missense_Mutation_p.V324M|ALDH3A1_uc010vzd.2_Missense_Mutation_p.V324M|ALDH3A1_uc002gwj.3_Missense_Mutation_p.V324M|ALDH3A1_uc010cqv.3_Missense_Mutation_p.V323M|ALDH3A1_uc002gwl.1_Missense_Mutation_p.V251M			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	324					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TGGGGGTCCACGTCCGTGAGG	0.632000														59			9		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77422987	77422987	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77422987A>C	uc004ajl.1	-	13	1839	c.1601T>G	c.(1600-1602)tTc>tGc	p.F534C	TRPM6_uc004ajk.1_Missense_Mutation_p.F529C|TRPM6_uc022bib.1_Missense_Mutation_p.F529C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.F534C|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	534					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAGGGCTCTGAAATGTTTTCT	0.368000														112			8		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236850076	236850076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850076G>A	uc001hyf.2	+	0	307	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.A35T	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	35	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTGGACCCAGCCTGGGAGAA	0.701000														73			6		0	0	1	0	0
MAGEB4	4115	broad.mit.edu	37	X	30261225	30261225	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30261225C>T	uc004dcb.3	+	0	1169	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	325										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGCAGCCAGGCGTGGCACTAC	0.517000														99			22		0	0	1	0	0
OSTCP1	202459	broad.mit.edu	37	6	159263024	159263024	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159263024C>T	uc003qrw.3	-	2		c.320G>A								Homo sapiens oligosaccharyltransferase complex subunit pseudogene 1 (OSTCP1), non-coding RNA.																		AGTCATAGAGCCAATGCTTGG	0.453000														146			26		0	0	1	0	0
NR2F6	2063	broad.mit.edu	37	19	17343433	17343433	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17343433C>T	uc002nfq.3	-	3	1065	c.943G>A	c.(943-945)Gcc>Acc	p.A315T		NM_005234	NP_005225	P10588	NR2F6_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 6 (NR2F6), mRNA.	315	Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						AGGCCACAGGCGTCTAGGGGG	0.642000														56			20		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145633201	145633201	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145633201G>T	uc003ijs.2	+	7	2081	c.1401G>T	c.(1399-1401)caG>caT	p.Q467H		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	467						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAATTCTACAGATAATAAAGG	0.338000														95			17		4.75885e-15	5.61893e-15	1	1	0
TTC17	55761	broad.mit.edu	37	11	43418898	43418898	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418898C>T	uc001mxi.3	+	7	844	c.774_splice	c.e7-1	p.R258_splice	TTC17_uc001mxh.3_Splice_Site_p.R258_splice|TTC17_uc010rfj.2_Splice_Site_p.R201_splice|TTC17_uc001mxj.3_Splice_Site_p.R28_splice	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	258							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTCCTTAGGCACAATAAAGA	0.438000														187			44		0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171638856	171638856	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638856T>C	uc003mbp.1	-	2	809	c.683A>G	c.(682-684)aAc>aGc	p.N228S		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	228						cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGTGTTGGGTTCTGCACAGG	0.478000														85			29		0	0	1	0	0
APOA4	337	broad.mit.edu	37	11	116693862	116693862	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116693862C>T	uc001pps.1	-	0	150	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587000														293			42		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466774	56466774	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466774A>C	uc002qmh.3	+	2	1421	c.1350A>C	c.(1348-1350)caA>caC	p.Q450H	NLRP8_uc010etg.3_Missense_Mutation_p.Q450H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	450	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAAGCACAACTGGAAGGTC	0.498000														158			38		0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027901	55027901	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55027901G>T	uc002xxp.2	+	5	1894	c.1669G>T	c.(1669-1671)Gat>Tat	p.D557Y	CASS4_uc002xxq.4_Missense_Mutation_p.D557Y|CASS4_uc010zze.1_Missense_Mutation_p.D503Y|CASS4_uc002xxr.2_Missense_Mutation_p.D557Y|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	557					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACAGCCCAGATGACCTTGA	0.488000														133			7		2.0095e-06	2.13635e-06	1	1	0
YY1	7528	broad.mit.edu	37	14	100705717	100705717	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100705717G>T	uc001ygy.1	+	0	616	c.136G>T	c.(136-138)Gag>Tag	p.E46*		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	46	Asp/Glu-rich (acidic).				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				cgaggaggaggaggaggacga	0.711000														33			5		3.59834e-05	3.75534e-05	1	1	0
TRMT61B	55006	broad.mit.edu	37	2	29093040	29093040	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29093040G>T	uc002rmm.3	-	0	136	c.104C>A	c.(103-105)gCt>gAt	p.A35D		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	35							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CAGTGACCGAGCTCCCTCGAA	0.622000														73			42		4.90274e-10	5.48697e-10	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78340214	78340214	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78340214C>T	uc003kfs.3	-	5	913	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	DMGDH_uc011cte.1_Missense_Mutation_p.E153K|DMGDH_uc011ctf.1_Missense_Mutation_p.E102K|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	303					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCATCCCTTTCCTGTCGGAGA	0.443000														142			34		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130716497	130716497	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130716497G>A	uc011bli.2	+	23	2689	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	ATP2C1_uc011blg.2_Missense_Mutation_p.R798H|ATP2C1_uc011blh.2_Missense_Mutation_p.R759H|ATP2C1_uc003enk.3_Missense_Mutation_p.R748H|ATP2C1_uc003enl.3_Missense_Mutation_p.R764H|ATP2C1_uc003enm.3_Missense_Mutation_p.R764H|ATP2C1_uc003enn.3_Missense_Mutation_p.R748H|ATP2C1_uc003eno.3_Missense_Mutation_p.R764H|ATP2C1_uc003enp.3_Missense_Mutation_p.R764H|ATP2C1_uc003ent.3_Missense_Mutation_p.R764H|ATP2C1_uc003ens.3_Missense_Mutation_p.R764H|ATP2C1_uc003enu.3_Missense_Mutation_p.R442H	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	764					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	AAACCTCCTCGCAACTGGAAA	0.343000									Hailey-Hailey disease					110			22		0	0	1	0	0
BX647938	0	broad.mit.edu	37	12	9715589	9715589	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9715589T>C	uc001qwb.1	+	4		c.2784T>C								Homo sapiens mRNA; cDNA DKFZp686A1124 (from clone DKFZp686A1124).																		TGTTGGGATGTTCTTTGAAGC	0.438000														19			4		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5232600	5232600	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5232600T>A	uc003jdl.3	+	11	1959	c.1821T>A	c.(1819-1821)tcT>tcA	p.S607S	ADAMTS16_uc003jdk.1_Silent_p.S607S|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	607	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGGAGTATCTCATAGGAGTC	0.557000														183			45		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124826572	124826572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124826572G>A	uc021rga.1	-	33	5123	c.5006C>T	c.(5005-5007)cCg>cTg	p.P1669L	NCOR2_uc021rgb.1_Missense_Mutation_p.P1653L|NCOR2_uc010tbb.2_Missense_Mutation_p.P1662L|NCOR2_uc010tbc.2_Missense_Mutation_p.P1652L|NCOR2_uc021rgc.1_Missense_Mutation_p.P1652L|NCOR2_uc010tba.2_Missense_Mutation_p.P1670L|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACAGGTGCGGGTAGGTGGG	0.652000														158			25		0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163510351	163510351	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163510351T>G	uc003qua.3	+	4	748	c.524T>G	c.(523-525)cTg>cGg	p.L175R	PACRG_uc003qub.3_Missense_Mutation_p.L175R|PACRG_uc003quc.3_Missense_Mutation_p.L175R	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	175										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTCCAGCATCTGGTTGTGTCA	0.458000														157			30		0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522741	2522741	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522741A>C	uc002cqj.3	+	1	1171	c.968A>C	c.(967-969)aAc>aCc	p.N323T	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	323	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TGCCGCTTCAACATGGAGCTG	0.697000														283			23		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161698	12161698	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12161698C>T	uc003nac.3	+	7	6693	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.E2171Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383000														136			31		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886595	9886595	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9886595T>C	uc002koi.4	+	1	568	c.119T>C	c.(118-120)tTa>tCa	p.L40S	TXNDC2_uc002koh.4_5'UTR|TXNDC2_uc021ugx.1_5'Flank	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	40					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GAAAGCTCATTACTAGTCCTG	0.398000														79			18		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113333196	113333196	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113333196C>T	uc002thw.2	+	14	3878	c.3298C>T	c.(3298-3300)Ctg>Ttg	p.L1100L	POLR1B_uc010fkn.2_Silent_p.L1044L|POLR1B_uc002thx.2_Silent_p.L961L|POLR1B_uc010fko.2_Silent_p.L917L|POLR1B_uc010fkp.2_Silent_p.L539L|POLR1B_uc002thy.2_Silent_p.L961L|POLR1B_uc010yxo.1_Silent_p.L877L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	1100					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						CAACTGTACTCTGTGTAGTCG	0.458000														140			44		0	0	1	0	0
GCFC1	94104	broad.mit.edu	37	21	34110549	34110549	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34110549G>A	uc002yqn.3	-	15	2606	c.2416C>T	c.(2416-2418)Cga>Tga	p.R806*	GCFC1-AS1_uc002yqk.3_Intron|GCFC1_uc002yql.3_Nonsense_Mutation_p.R315*|GCFC1_uc002yqm.3_Nonsense_Mutation_p.R300*|GCFC1_uc002yqo.3_Non-coding_Transcript	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 1 (GCFC1), transcript variant 1, mRNA.	806						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R806Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(11)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	39						AGAATATATCGATTTAATAAA	0.313000														65			14		0	0	1	0	0
TSPAN9	10867	broad.mit.edu	37	12	3387723	3387723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3387723C>T	uc001qlp.3	+	3	383	c.200C>T	c.(199-201)aCg>aTg	p.T67M	TSPAN9_uc021qtd.1_Missense_Mutation_p.T67M	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	67						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GTCATGGTGACGGGCTTCCTC	0.577000														168			31		0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236217	33236217	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33236217G>A	uc001bvu.1	+	5	1481	c.1437G>A	c.(1435-1437)cgG>cgA	p.R479R	KIAA1522_uc010ohm.1_Silent_p.R431R|KIAA1522_uc001bvv.2_Silent_p.R420R|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	420	Pro-rich.							p.R479W(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				TCAGCATTCGGAGCAGTGGGC	0.672000														54			8		0	0	1	0	0
LMO1	4004	broad.mit.edu	37	11	8248572	8248572	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8248572C>T	uc001mgg.1	-	2	812	c.315G>A	c.(313-315)cgG>cgA	p.R105R	LMO1_uc009yfo.1_Non-coding_Transcript|LMO1_uc001mgh.1_Silent_p.R104R	NM_002315	NP_002306	P25800	RBTN1_HUMAN	Homo sapiens LIM domain only 1 (rhombotin 1) (LMO1), mRNA.	105	LIM zinc-binding 2.				cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		ACACGTTGTCCCGGGCCCGCA	0.632000			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma								91			16		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67289057	67289057	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67289057C>T	uc002esm.3	+	2	687	c.624C>T	c.(622-624)ggC>ggT	p.G208G	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	208					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCGTCTTTGGCGAGTCCCTGC	0.592000														192			47		0	0	1	0	0
CLEC11A	6320	broad.mit.edu	37	19	51226907	51226907	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51226907A>T	uc002psy.3	+	0	303	c.125A>T	c.(124-126)gAg>gTg	p.E42V		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	Homo sapiens C-type lectin domain family 11, member A (CLEC11A), mRNA.	42					positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		gaggagcgggagagggaggCC	0.637000														66			23		0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74676924	74676924	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74676924G>A	uc011csu.2	-	15	2142	c.1720C>T	c.(1720-1722)Cta>Tta	p.L574L	COL4A3BP_uc003kds.3_Silent_p.L548L|COL4A3BP_uc003kdt.3_Silent_p.L702L|COL4A3BP_uc003kdu.2_Silent_p.L574L	NM_005713	NP_005704	Q9Y5P4	C43BP_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) binding protein (COL4A3BP), transcript variant 1, mRNA.	574	START.				ER to Golgi ceramide transport|immune response	Golgi apparatus|cytosol|endoplasmic reticulum membrane	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ATCTTGCATAGAATGTTGTCC	0.373000														173			50		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231417	54231417	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54231417C>T	uc003gzu.3	-	0	826	c.692G>A	c.(691-693)gGa>gAa	p.G231E	SCFD2_uc010igm.3_Missense_Mutation_p.G231E	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	231					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCCCGTACTCCTAAATGTTC	0.527000														145			32		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378907	144378907	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378907C>T	uc003yxy.4	+	2	1471	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GCACCGAGTGCGGCCGCGCCT	0.731000														26			3		0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963119	7963119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7963119C>T	uc002wmx.1	-	7	962	c.829G>A	c.(829-831)Gag>Aag	p.E277K		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 4 (TMX4), mRNA.	277	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcttcttcctctgcttcatcc	0.502000														112			11		0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62530843	62530843	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530843C>T	uc002jem.3	+	16	2116	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Silent_p.T522T|CEP95_uc002jeo.1_Silent_p.T118T	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	686						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GAATGAGGACCCGGGAAGAAA	0.388000														32			8		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46489643	46489643	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46489643T>C	uc001cov.3	+	14	2054	c.1771T>C	c.(1771-1773)Tac>Cac	p.Y591H	MAST2_uc001cow.3_Missense_Mutation_p.Y591H|MAST2_uc001coy.1_Missense_Mutation_p.Y265H|MAST2_uc001coz.1_Missense_Mutation_p.Y476H|MAST2_uc009vya.3_Missense_Mutation_p.Y513H|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	591	Protein kinase.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGTGATGGAGTACGTTGAAGG	0.522000														74			19		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839218	128839218	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128839218G>A	uc009zcp.3	-	21	5848	c.5848C>T	c.(5848-5850)Cga>Tga	p.R1950*	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Nonsense_Mutation_p.R909*|ARHGAP32_uc001qez.3_Nonsense_Mutation_p.R1601*	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1950	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACCCAGGGTCGCTCCATCTCT	0.517000														154			39		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1551487	1551487	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1551487G>A	uc002cly.3	+	9	1639	c.1348G>A	c.(1348-1350)Gcc>Acc	p.A450T		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	450						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GGGTGACGGCGCCTCGGAGGC	0.687000														60			20		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201031168	201031168	+	Missense_Mutation	SNP	C	T	T	rs140453525	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201031168C>T	uc001gvv.3	-	23	3184	c.2957G>A	c.(2956-2958)cGt>cAt	p.R986H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	986					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCGCGGTGACGCAGCTCTAT	0.602000														51			17		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746232	150746232	+	Missense_Mutation	SNP	C	T	T	rs140048490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746232C>T	uc003wio.2	+	0	628	c.260C>T	c.(259-261)cCg>cTg	p.P87L	ASIC3_uc003win.2_Missense_Mutation_p.P87L|ASIC3_uc003wip.2_Missense_Mutation_p.P87L|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	87					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	p.P87Q(4)									CTCATCTTCCCGGCTGTCACC	0.647000														217			49		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52902196	52902196	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52902196G>A	uc010ugf.2	-	4	1070	c.936C>T	c.(934-936)ggC>ggT	p.G312G	FAM214A_uc002acg.4_Silent_p.G305G|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.G217G	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	305																	CAGATTTACTGCCAGTGCCTG	0.393000														41			4		0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57156117	57156117	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57156117C>T	uc001nkc.3	-	3	505	c.431G>A	c.(430-432)cGa>cAa	p.R144Q	SLC43A3_uc001nkd.3_Missense_Mutation_p.R133Q|SLC43A3_uc001nke.3_Missense_Mutation_p.R424Q	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ACACTGGATTCGATAATTAAT	0.488000														231			60		0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20016875	20016875	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20016875G>A	uc002wrs.3	-	14	2543	c.2511C>T	c.(2509-2511)caC>caT	p.H837H		NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	837					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CATCTGGATGGTGCTCAGCAT	0.413000														162			25		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142443464	142443464	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142443464C>A	uc003evc.3	+	0	199	c.63C>A	c.(61-63)tcC>tcA	p.S21S	TRPC1_uc003evb.3_Silent_p.S21S	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	21					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ccctgccttcctctccatcct	0.642000														50			10		7.48243e-07	8.00842e-07	1	1	0
CDYL2	124359	broad.mit.edu	37	16	80718807	80718807	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718807G>A	uc002ffs.3	-	1	349	c.244C>T	c.(244-246)Cga>Tga	p.R82*		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	82						nucleus	catalytic activity|protein binding	p.R82P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GACGGGCCTCGACTGTCACGC	0.522000														154			37		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124885145	124885145	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885145G>A	uc021rga.1	-	14	1832	c.1715C>T	c.(1714-1716)gCc>gTc	p.A572V	NCOR2_uc021rgb.1_Missense_Mutation_p.A572V|NCOR2_uc010tbb.2_Missense_Mutation_p.A572V|NCOR2_uc010tbc.2_Missense_Mutation_p.A571V|NCOR2_uc021rgc.1_Missense_Mutation_p.A571V|NCOR2_uc010tba.2_Missense_Mutation_p.A572V|NCOR2_uc001ugj.1_Missense_Mutation_p.A572V	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	572					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTGGCTGTTGGCAGTTTTGCG	0.617000														281			61		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825941	55825941	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825941G>A	uc002rzc.3	-	3	1224	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	SMEK2_uc002rzb.3_Silent_p.L178L|SMEK2_uc002rzd.3_Silent_p.L178L|SMEK2_uc002rza.3_Silent_p.L54L	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	178						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTTGGAACAGCTGCAATAGT	0.398000														108			19		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61068386	61068386	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61068386G>A	uc001nrc.4	-	25	3460	c.3234C>T	c.(3232-3234)acC>acT	p.T1078T		NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	1078	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTTCCGCTCGGTGTGAAAGG	0.512000								Nucleotide excision repair (NER)						113			7		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7483263	7483263	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7483263C>A	uc003src.1	-	19	1720	c.1603G>T	c.(1603-1605)Gca>Tca	p.A535S	COL28A1_uc011jxe.1_Missense_Mutation_p.A218S|COL28A1_uc003srd.3_Missense_Mutation_p.A90S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	535	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGGCCTCTTGCTCCCGGAAGC	0.527000														78			22		1.50039e-11	1.71053e-11	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102074437	102074437	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102074437C>A	uc003pqp.4	+	2	759	c.466C>A	c.(466-468)Ctc>Atc	p.L156I	GRIK2_uc021zdj.1_Missense_Mutation_p.L156I|GRIK2_uc003pqn.3_Missense_Mutation_p.L156I|GRIK2_uc010kcw.3_Missense_Mutation_p.L156I|GRIK2_uc003pqo.4_Missense_Mutation_p.L156I|GRIK2_uc021zdk.1_Missense_Mutation_p.L156I|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	156					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CTTCTCTTCACTCAGCCGTGC	0.468000														129			22		0.000229342	0.000237129	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85750255	85750255	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750255A>C	uc003hpd.3	-	8	1266	c.858T>G	c.(856-858)ctT>ctG	p.L286L	WDFY3_uc003hpf.3_Silent_p.L286L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	286						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGAAACAAGAAAGCCCAGCAA	0.388000														93			25		0	0	1	0	0
RIMS4	140730	broad.mit.edu	37	20	43386371	43386371	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43386371C>T	uc010ggu.3	-	3	461	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RIMS4_uc002xms.3_Missense_Mutation_p.E131K	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	131	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				ATGTCCACCTCCAACTGACCG	0.592000														169			32		0	0	1	0	0
R3HDM4	91300	broad.mit.edu	37	19	901497	901497	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901497C>T	uc002lqg.2	-	2	344	c.276G>A	c.(274-276)ctG>ctA	p.L92L		NM_138774	NP_620129	Q96D70	CS022_HUMAN	Homo sapiens R3H domain containing 4 (R3HDM4), mRNA.	92						nucleus	nucleic acid binding										CCCCATCCTCCAGGCCAGGCA	0.652000														52			10		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88769136	88769136	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88769136G>A	uc001kee.2	+	11	2331	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	376	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CTTGGCACCCGCCTTTCCCGT	0.522000														539			110		0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49167894	49167894	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49167894G>A	uc002pkb.3	-	2	858	c.762C>T	c.(760-762)tgC>tgT	p.C254C	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|NTN5_uc002pkc.3_Silent_p.C254C	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	Homo sapiens netrin 5 (NTN5), mRNA.	254	Laminin EGF-like 2.					extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						ACCCAGGTTGGCAGTAGTGGC	0.657000														60			11		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324884	9324884	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324884G>A	uc001apt.3	+	4	2605	c.2332G>A	c.(2332-2334)Ggc>Agc	p.G778S		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	778	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GCCGCACTCCGGCCAGCTGGT	0.647000														110			7		0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472353	44472353	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472353G>A	uc002xqa.2	-	4	748	c.654C>T	c.(652-654)ggC>ggT	p.G218G	ACOT8_uc010zxe.2_3'UTR|ACOT8_uc002xqc.2_3'UTR|ACOT8_uc010zxf.2_Silent_p.G98G	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	218					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				TCTTCATGTCGCCCTCGCCTG	0.617000														107			23		0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622644	75622644	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75622644C>T	uc001dgo.3	+	8	1541	c.877C>T	c.(877-879)Cca>Tca	p.P293S	LHX8_uc001dgq.3_Missense_Mutation_p.P232S	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ATCCTCCACCCCAGTCACAGC	0.512000														144			39		0	0	1	0	0
GP5	2814	broad.mit.edu	37	3	194118727	194118727	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194118727A>G	uc003ftv.1	-	1	316	c.285T>C	c.(283-285)agT>agC	p.S95S	GP5_uc021xiz.1_Silent_p.S95S	NM_004488	NP_004479	P40197	GPV_HUMAN	Homo sapiens glycoprotein V (platelet) (GP5), mRNA.	95					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTATCAGGTCACTGAAGGTGC	0.577000														224			34		0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94602523	94602523	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94602523C>T	uc001pfb.3	+	11	2819	c.2649C>T	c.(2647-2649)gcC>gcT	p.A883A	AMOTL1_uc001pfc.3_Silent_p.A833A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	883						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ACAAGAGTGCCGAGCTCTTCT	0.652000														39			6		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9200460	9200460	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9200460C>A	uc001mhl.3	-	6	1873	c.1616G>T	c.(1615-1617)aGc>aTc	p.S539I	DENND5A_uc010rbw.2_Missense_Mutation_p.S539I|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	539	dDENN.							p.P538P(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTATCCTGGCTGGGTTGGAT	0.433000														110			29		1.08312e-15	1.2841e-15	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96846909	96846909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846909C>T	uc010mrj.2	+	0	199	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	PTPDC1_uc004auf.2_Intron|PTPDC1_uc004aug.2_Intron|PTPDC1_uc004auh.2_Missense_Mutation_p.R33W|PTPDC1_uc010mri.2_Missense_Mutation_p.R33W	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	0							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CCCAGTACTGCGGCTGCAGCA	0.667000														182			35		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861101	108861101	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108861101G>T	uc001vqn.3	-	1	2789	c.2516C>A	c.(2515-2517)gCt>gAt	p.A839D	LIG4_uc001vqo.3_Missense_Mutation_p.A839D|LIG4_uc010agf.3_Missense_Mutation_p.A839D|LIG4_uc001vqp.3_Missense_Mutation_p.A839D|LIG4_uc010agg.1_Missense_Mutation_p.A772D|LIG4_uc021rmk.1_Missense_Mutation_p.A839D	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	839	BRCT 2.				DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGCTTTAATAGCTAACCTTGT	0.423000								Non-homologous end-joining						103			19		6.94344e-10	7.75807e-10	1	1	0
HPS4	89781	broad.mit.edu	37	22	26861460	26861460	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26861460G>T	uc003acl.3	-	9	1423	c.764C>A	c.(763-765)gCc>gAc	p.A255D	HPS4_uc003aci.3_Missense_Mutation_p.A250D|HPS4_uc003acj.3_Missense_Mutation_p.A119D|HPS4_uc003ack.3_Missense_Mutation_p.A46D|HPS4_uc003acn.3_Missense_Mutation_p.A101D|HPS4_uc010gvd.1_Missense_Mutation_p.A273D|HPS4_uc003ach.3_5'UTR	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	255					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGACTAATGGCTTCCTCTTT	0.512000									Hermansky-Pudlak syndrome					91			23		3.28513e-13	3.82035e-13	1	1	0
UBAP2L	9898	broad.mit.edu	37	1	154232488	154232488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154232488C>T	uc001fep.4	+	21	2728	c.2561C>T	c.(2560-2562)gCc>gTc	p.A854V	UBAP2L_uc009wot.3_Missense_Mutation_p.A854V|UBAP2L_uc010pek.2_Missense_Mutation_p.A846V|UBAP2L_uc010pel.2_Missense_Mutation_p.A864V|UBAP2L_uc010pen.2_Missense_Mutation_p.A768V|UBAP2L_uc001feq.3_Missense_Mutation_p.A50V|UBAP2L_uc001fer.3_Missense_Mutation_p.A50V	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	854					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGTAGCCTGGCCAGCAACCCT	0.473000														152			26		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109190997	109190997	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109190997G>A	uc003kou.1	+	19	4096	c.3133G>A	c.(3133-3135)Gac>Aac	p.D1045N		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	1045					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGCCTTGTGACATTCATCT	0.353000														40			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179446443	179446443	+	Silent	SNP	G	A	A	rs146502705	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179446443G>A	uc021vsy.1	-	264	59073	c.58848C>T	c.(58846-58848)ggC>ggT	p.G19616G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G13311G|TTN_uc021vta.1_Silent_p.G13244G|TTN_uc021vtb.1_Silent_p.G13119G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20543	Ig-like 109.						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)			TAGGGCTGCCGCCGTCATAGG	0.493000														29			5		0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55817495	55817495	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55817495T>C	uc021rtk.1	+	0	387	c.387T>C	c.(385-387)agT>agC	p.S129S	FBXO34_uc001xbv.3_5'Flank|FBXO34_uc001xbu.3_Silent_p.S129S|FBXO34_uc010aoo.3_Silent_p.S129S	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	129										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGTAGTAACAGGATAG	0.413000														47			16		0	0	1	0	0
SLC5A2	6524	broad.mit.edu	37	16	31501753	31501753	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31501753G>A	uc002ecf.4	+	13	1935	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	639					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						GCAGCCAGGCGGCTGGAGGAC	0.647000														55			19		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27816730	27816730	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27816730A>G	uc002hdz.2	+	8	898	c.704A>G	c.(703-705)tAt>tGt	p.Y235C	TAOK1_uc010wbe.2_Missense_Mutation_p.Y235C|TAOK1_uc002heb.1_Missense_Mutation_p.Y61C	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	235	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			AGTGCCTTATATCACATAGCC	0.348000														86			18		0	0	1	0	0
EXOSC8	11340	broad.mit.edu	37	13	37582916	37582916	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37582916G>T	uc001uwa.3	+	9	924	c.659G>T	c.(658-660)gGa>gTa	p.G220V	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	220					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CTGGCAACAGGAACCTTAACA	0.378000														55			9		0.010729	0.0108564	1	1	0
TTLL13	440307	broad.mit.edu	37	15	90796595	90796595	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90796595T>G	uc002bpd.1	+	3	701	c.413T>G	c.(412-414)tTt>tGt	p.F138C	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	138	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGAAGAGGTTTCAGGTACCC	0.557000														32			7		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180849411	180849411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180849411C>T	uc001goi.3	+	13	2200	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	XPR1_uc009wxn.3_Missense_Mutation_p.R605C	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	670						integral to plasma membrane	G-protein coupled receptor activity	p.R670H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						CATATCCCTGCGCCGGCCTCG	0.473000														113			30		0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123256162	123256162	+	Missense_Mutation	SNP	C	T	T	rs138712692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123256162C>T	uc021pzz.1	-	12	2394	c.1747G>A	c.(1747-1749)Ggg>Agg	p.G583R	FGFR2_uc021pzv.1_Missense_Mutation_p.G471R|FGFR2_uc021pzw.1_Missense_Mutation_p.G468R|FGFR2_uc021pzx.1_Missense_Mutation_p.G494R|FGFR2_uc021pzy.1_Missense_Mutation_p.G584R|FGFR2_uc010qtl.2_Missense_Mutation_p.G467R|FGFR2_uc010qtm.2_Missense_Mutation_p.G466R|FGFR2_uc021qaa.1_Missense_Mutation_p.G584R|FGFR2_uc021qab.1_Missense_Mutation_p.G495R|FGFR2_uc021qac.1_Missense_Mutation_p.G512R|FGFR2_uc001lfg.4_Missense_Mutation_p.G191R	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	583	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	TACTCCATCCCGGGTGGCCTC	0.537000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					339			15		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12780892	12780892	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12780892C>A	uc009vnn.1	+	2	455	c.222C>A	c.(220-222)caC>caA	p.H74Q	AADACL3_uc001aug.1_Missense_Mutation_p.H4Q	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	74							hydrolase activity	p.A73T(1)		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)		TAGAAACCCACCATGGCATAT	0.507000														111			27		6.32553e-13	7.33687e-13	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58388344	58388344	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58388344C>T	uc002qqo.2	-	1	375	c.103G>A	c.(103-105)Gct>Act	p.A35T	ZNF814_uc002qqk.2_Non-coding_Transcript|ZNF814_uc010yhl.2_Non-coding_Transcript	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CATCTCTGAGCCTCACTAAGG	0.488000														160			38		0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390647	51390647	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390647C>T	uc001rxk.2	-	8	921	c.871G>A	c.(871-873)Gct>Act	p.A291T	SLC11A2_uc001rxd.4_Missense_Mutation_p.A111T|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Missense_Mutation_p.A262T|SLC11A2_uc001rxc.4_Missense_Mutation_p.A262T|SLC11A2_uc001rxg.2_5'Flank|SLC11A2_uc010smx.2_Missense_Mutation_p.A258T|SLC11A2_uc001rxh.2_Missense_Mutation_p.A262T|SLC11A2_uc010smy.2_Missense_Mutation_p.A225T|SLC11A2_uc001rxj.2_Missense_Mutation_p.A262T|SLC11A2_uc001rxi.3_Missense_Mutation_p.A262T	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	262					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	p.R290*(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						ATGATGACAGCTCCCACGATG	0.522000														104			22		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148072854	148072854	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148072854T>G	uc004fcp.3	+	20	4407	c.3928T>G	c.(3928-3930)Ttg>Gtg	p.L1310V	AFF2_uc004fcq.3_Missense_Mutation_p.L1300V|AFF2_uc004fcr.3_Missense_Mutation_p.L1271V|AFF2_uc011mxb.2_Missense_Mutation_p.L1275V|AFF2_uc004fcs.3_Missense_Mutation_p.L1275V|AFF2_uc011mxc.2_Missense_Mutation_p.L951V	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1310					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.H1309N(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CGATGCCCACTTGTTGTAGTG	0.562000														219			74		0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121880	73121880	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73121880G>A	uc001jrr.4	+	5	1000	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.V169I|SLC29A3_uc001jrt.4_Missense_Mutation_p.V109I	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	315					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TGTCACCTACGTCTTCTTCAT	0.577000														417			88		0	0	1	0	0
THOC5	8563	broad.mit.edu	37	22	29913321	29913321	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29913321C>A	uc003afr.3	-	16	1859	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	THOC5_uc003afq.3_Missense_Mutation_p.Q169H|THOC5_uc003afs.3_Missense_Mutation_p.Q508H|THOC5_uc003aft.3_Missense_Mutation_p.Q508H|THOC5_uc003afu.3_Missense_Mutation_p.Q508H	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	508					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAAGAGGTACTGGCAATCAC	0.478000														35			10		0.010729	0.0108564	1	1	0
ARHGEF16	27237	broad.mit.edu	37	1	3394527	3394527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3394527C>T	uc001akg.4	+	10	1810	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	ARHGEF16_uc001aki.3_Missense_Mutation_p.A233V|ARHGEF16_uc001akj.3_Missense_Mutation_p.A233V|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A225V	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	521	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGAAAAATTGCCAGCCGGCCA	0.577000														226			18		0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	53027406	53027406	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53027406C>T	uc002iud.2	+	14	1464	c.1289_splice	c.e14-1	p.A430_splice	TOM1L1_uc010dca.1_Splice_Site_p.A419_splice|TOM1L1_uc010wnb.1_Splice_Site_p.A423_splice|TOM1L1_uc010wnc.1_Splice_Site_p.A353_splice|TOM1L1_uc010dbz.2_Splice_Site_p.A353_splice|TOM1L1_uc010wnd.1_Splice_Site_p.A318_splice	NM_005486	NP_005477	O75674	TM1L1_HUMAN	Homo sapiens target of myb1 (chicken)-like 1 (TOM1L1), mRNA.	430					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	Golgi stack|cytosol|endosome membrane|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGCGATGACAAAA	0.358000														69			7		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17281832	17281832	+	Missense_Mutation	SNP	G	A	A	rs145972878	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281832G>A	uc001azt.2	+	23	3560	c.3491G>A	c.(3490-3492)cGt>cAt	p.R1164H	CROCC_uc001azu.2_Missense_Mutation_p.R467H	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1164					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		ACCCAGCTGCGTCTGCTGGAG	0.697000														110			7		0	0	1	0	0
MKL2	57496	broad.mit.edu	37	16	14340860	14340860	+	Silent	SNP	C	T	T	rs148779363	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14340860C>T	uc010uza.2	+	11	1898	c.1743C>T	c.(1741-1743)atC>atT	p.I581I	MKL2_uc002dcg.3_Silent_p.I581I|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	570	Required for interaction with itself and with MKL1.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity	p.I581I(6)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGAAGCAAATCGAAGAGCTGA	0.507000														91			16		0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49850619	49850619	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49850619T>C	uc002pnh.3	-	10	854	c.748_splice	c.e10-1	p.Y250_splice	TEAD2_uc002png.3_Splice_Site_p.Y249_splice|TEAD2_uc002pni.3_Splice_Site_p.Y249_splice|TEAD2_uc002pnj.3_Splice_Site_p.Y246_splice|TEAD2_uc010yao.2_Splice_Site_p.Y118_splice|TEAD2_uc010emw.3_Splice_Site_p.Y249_splice	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	246	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GTGCCTCTGGTACTGAGGAGG	0.632000														248			62		0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150832667	150832667	+	Missense_Mutation	SNP	C	A	A	rs147926578		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150832667C>A	uc004fev.4	+	10	1250	c.918C>A	c.(916-918)ttC>ttA	p.F306L		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	306						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTGGAGTTCTCGGTGGATC	0.582000														133			36		2.09667e-21	2.57328e-21	1	1	0
SRD5A3	79644	broad.mit.edu	37	4	56236230	56236230	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56236230G>T	uc003hau.3	+	4	1045	c.929G>T	c.(928-930)aGg>aTg	p.R310M	LOC100506462_uc003hav.1_Intron|LOC100506462_uc003haw.2_Intron	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Homo sapiens steroid 5 alpha-reductase 3 (SRD5A3), mRNA.	310					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			CCGAAGCATAGGAAAGCTTTC	0.433000														172			45		4.14194e-30	5.21387e-30	1	1	0
NLRC4	58484	broad.mit.edu	37	2	32475213	32475213	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32475213C>A	uc002roi.3	-	3	1981	c.1720G>T	c.(1720-1722)Gaa>Taa	p.E574*	NLRC4_uc021vfq.1_Nonsense_Mutation_p.E574*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E574*|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	574					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCAAATTCTTGGCTCAGG	0.378000														149			24		1.10513e-12	1.27896e-12	1	1	0
IL33	90865	broad.mit.edu	37	9	6250583	6250583	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6250583G>A	uc003zjt.3	+	2	279	c.201G>A	c.(199-201)agG>agA	p.R67R	IL33_uc011lmg.2_Silent_p.R67R|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Silent_p.R67R	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	67					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CCACCAAAAGGCCTTCACTGA	0.408000														65			23		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11535968	11535968	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11535968C>T	uc002gne.3	+	7	1651	c.1583C>T	c.(1582-1584)aCt>aTt	p.T528I		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	528	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATTGGGGACTATCTTTATT	0.433000														151			26		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156747679	156747679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156747679C>T	uc021ygm.1	+	14	1675	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	CYFIP2_uc011ddn.2_Nonsense_Mutation_p.R488*|CYFIP2_uc011ddo.2_Nonsense_Mutation_p.R318*|CYFIP2_uc021ygn.1_Nonsense_Mutation_p.R513*|CYFIP2_uc021ygo.1_Nonsense_Mutation_p.R513*|CYFIP2_uc003lwt.3_Nonsense_Mutation_p.R392*|CYFIP2_uc011ddp.2_Nonsense_Mutation_p.R248*	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	514					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGGCAATTCGAAAGACCAT	0.532000														76			15		0	0	1	0	0
AQP8	343	broad.mit.edu	37	16	25228637	25228637	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25228637G>A	uc002doc.3	+	1	213	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	44					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		GAACTGCTGGGCTCTGCTCTC	0.622000														519			109		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35691298	35691298	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35691298G>T	uc003jjo.3	+	10	1795	c.1684G>T	c.(1684-1686)Gga>Tga	p.G562*	SPEF2_uc003jjq.4_Nonsense_Mutation_p.G562*|SPEF2_uc003jjp.1_Nonsense_Mutation_p.G53*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	562					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGCTGTTAAAGGATGCTTATT	0.403000														95			17		3.51602e-12	4.04451e-12	1	1	0
RAP1B	5908	broad.mit.edu	37	12	69050899	69050899	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69050899C>T	uc001sub.3	+	6	727	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	RAP1B_uc010ste.2_Missense_Mutation_p.R97W|RAP1B_uc001suc.3_Missense_Mutation_p.R163W|RAP1B_uc010stf.2_Missense_Mutation_p.R144W|RAP1B_uc010stg.2_Missense_Mutation_p.R121W|RAP1B_uc010sth.2_Missense_Mutation_p.R121W|RAP1B_uc010sti.2_Missense_Mutation_p.R116W	NM_015646	NP_056461	P61224	RAP1B_HUMAN	Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA.	163					blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	p.R163R(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGACCTAGTGCGGCAAATTAA	0.373000														142			34		0	0	1	0	0
SEC16B	89866	broad.mit.edu	37	1	177930826	177930826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177930826G>A	uc001glj.1	-	10	1552	c.686C>T	c.(685-687)tCt>tTt	p.S229F	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001glh.1_5'Flank|SEC16B_uc001gli.1_Missense_Mutation_p.S229F|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.S229F	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	229					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGAGACCAGACTCACGCTG	0.512000														77			18		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155505940	155505940	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155505940C>T	uc003iod.1	-	5	1995	c.1937G>A	c.(1936-1938)gGc>gAc	p.G646D		NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	ATTGAAAATGCCACTTTGGGT	0.378000														95			9		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113698178	113698178	+	Missense_Mutation	SNP	G	A	A	rs138959802	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113698178G>A	uc001tux.3	+	3	508	c.334G>A	c.(334-336)Ggc>Agc	p.G112S	TPCN1_uc001tuw.3_Missense_Mutation_p.G40S|TPCN1_uc010syt.1_5'UTR	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	40						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TGCAGATGGCGGCAGCTATGC	0.552000														108			21		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56846364	56846364	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56846364G>A	uc003hbi.3	+	11	1763	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	CEP135_uc003hbj.3_Missense_Mutation_p.R216H	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	510					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAACTTCAGCGTATGCTAGAA	0.289000														88			18		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17826038	17826038	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17826038C>T	uc003ncg.4	-	15	1907	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KIF13A_uc003ncf.3_Missense_Mutation_p.A583T|KIF13A_uc003nch.4_Missense_Mutation_p.A583T|KIF13A_uc003nci.4_Missense_Mutation_p.A583T|KIF13A_uc003ncj.3_Missense_Mutation_p.A259T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	583					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCCATCTGTGCAAATTCATAG	0.468000														140			27		0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86934771	86934771	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86934771C>T	uc001dlt.3	+	0	377	c.117C>T	c.(115-117)atC>atT	p.I39I	CLCA1_uc001dls.1_Silent_p.I39I	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	39					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TCGTTGCAATCGACCCCAATG	0.373000														66			18		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	176596	176596	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:176596G>T	uc001qhw.2	+	0	548	c.548G>T	c.(547-549)aGa>aTa	p.R183I		NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	183					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.R183R(1)		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)		CTGAGCAGGAGACCTGAGTGA	0.647000														62			8		3.07112e-06	3.25591e-06	1	1	0
BCS1L	617	broad.mit.edu	37	2	219525923	219525923	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219525923T>C	uc002vip.3	+	2	559	c.213T>C	c.(211-213)agT>agC	p.S71S	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Silent_p.S71S|BCS1L_uc010fvu.3_Silent_p.S71S|BCS1L_uc010fvv.3_Silent_p.S71S|BCS1L_uc002vis.3_Silent_p.S71S|BCS1L_uc021vwz.1_Silent_p.S71S	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	71					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCGCCACAGTACCCGTACTC	0.552000														321			22		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53608004	53608004	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53608004G>A	uc021onn.1	-	0	286	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	SLC1A7_uc021onm.1_Missense_Mutation_p.R40W|SLC1A7_uc001cuy.3_Missense_Mutation_p.R40W|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.R40W	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	40						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GAGAGGCGCCGGGTCCTCAAG	0.647000														9			4		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6707221	6707221	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6707221C>T	uc001qpo.3	-	11	1895	c.1731G>A	c.(1729-1731)aaG>aaA	p.K577K	CHD4_uc001qpn.3_Silent_p.K570K|CHD4_uc001qpp.3_Silent_p.K574K	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	577	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCATATCATTCTTCCGCTGAT	0.473000														252			54		0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12686292	12686292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12686292C>T	uc002kri.3	-	7	1247	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Missense_Mutation_p.C186Y|CEP76_uc010wzz.2_Missense_Mutation_p.C289Y|CEP76_uc010xaa.1_Missense_Mutation_p.C186Y	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	364					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGCAGAGTGCACCACTGCTC	0.408000														90			17		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61611263	61611263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61611263C>T	uc002jay.3	+	4	772	c.692C>T	c.(691-693)gCg>gTg	p.A231V	KCNH6_uc002jax.1_Missense_Mutation_p.A231V|KCNH6_uc010wpl.2_Missense_Mutation_p.A108V|KCNH6_uc010wpm.2_Missense_Mutation_p.A231V|KCNH6_uc002jaz.1_Missense_Mutation_p.A231V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	231					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCCTGGGCGCGGATGTGCTG	0.687000														192			47		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605812	58605812	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605812C>A	uc010tro.2	-	2	577	c.379G>T	c.(379-381)Gca>Tca	p.A127S	C14orf37_uc001xdc.3_Missense_Mutation_p.A89S|C14orf37_uc001xdd.3_Missense_Mutation_p.A89S|C14orf37_uc001xde.3_Missense_Mutation_p.A89S	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	89						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ATCGAGAATGCTTTATTTAAT	0.478000														181			9		3.09899e-07	3.33423e-07	1	1	0
CECR2	27443	broad.mit.edu	37	22	18022369	18022369	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022369C>A	uc010gqw.1	+	14	2465	c.2465C>A	c.(2464-2466)tCt>tAt	p.S822Y	CECR2_uc010gqv.1_Missense_Mutation_p.S683Y|CECR2_uc002zml.2_Missense_Mutation_p.S683Y	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	866					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding	p.P821S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCCTGCAAGTCTGCCGGACAT	0.602000														165			12		2.27111e-07	2.44751e-07	1	1	0
XDH	7498	broad.mit.edu	37	2	31571782	31571782	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31571782C>T	uc002rnv.1	-	26	3113	c.3034G>A	c.(3034-3036)Gtt>Att	p.V1012I		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1012					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)	AGAAAAGGAACTGTAAAGCTT	0.388000														48			15		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483989	64483989	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64483989T>C	uc003jtp.3	-	21	3578	c.2764A>G	c.(2764-2766)Agg>Ggg	p.R922G	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	922	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		AGCACTGCCCTTGTGCGCATC	0.512000														237			64		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309528	38309528	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38309528G>T	uc010gnb.3	-	4	1631	c.217C>A	c.(217-219)Ccc>Acc	p.P73T	HLCS_uc021wjb.1_Missense_Mutation_p.P73T|HLCS_uc002yvs.3_Missense_Mutation_p.P73T|HLCS_uc010gnc.2_Missense_Mutation_p.P220T	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	73					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CTTTGTTTGGGTTCTTCACCA	0.552000														159			14		3.27435e-08	3.57295e-08	1	1	0
PTPRJ	5795	broad.mit.edu	37	11	48161167	48161167	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48161167A>G	uc001ngp.4	+	10	2637	c.2282A>G	c.(2281-2283)aAt>aGt	p.N761S	PTPRJ_uc010rhr.1_Missense_Mutation_p.N206S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	761	Fibronectin type-III 8.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGAACAATGCGACCCAC	0.537000														83			19		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212285274	212285274	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285274A>G	uc002veg.1	-	24	3125	c.3027T>C	c.(3025-3027)gaT>gaC	p.D1009D	ERBB4_uc002veh.1_Silent_p.D1009D|ERBB4_uc010zji.1_Silent_p.D999D|ERBB4_uc010zjj.1_Silent_p.D999D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1009					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.L1008L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AATCCTCTTCATCCAAGAGAT	0.428000										TSP Lung(8;0.080)				41			16		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108214019	108214019	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108214019T>G	uc001pkb.1	+	56	8724	c.8339T>G	c.(8338-8340)cTt>cGt	p.L2780R	ATM_uc009yxr.1_Missense_Mutation_p.L2780R|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.L1432R	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2780	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGTGAATTTCTTGTTAACAAT	0.403000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				145			41		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123026646	123026646	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123026646A>G	uc001ucv.3	+	5	658	c.495A>G	c.(493-495)acA>acG	p.T165T	KNTC1_uc010taf.2_Silent_p.T165T	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	165					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.T165A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTGTATTACAAACCTTCAGC	0.239000														17			4		0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93611924	93611924	+	Silent	SNP	G	A	A	rs141208672		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:93611924G>A	uc003drb.4	-	9	1349	c.1008C>T	c.(1006-1008)ggC>ggT	p.G336G	PROS1_uc010hoo.3_Silent_p.G205G|PROS1_uc003dqz.4_Silent_p.G205G	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	336	Laminin G-like 1.		G -> D (in PROS1D).|G -> S (in PROS1D).|G -> V (in PROS1D; expresses very low/ undetectable PROS1 levels compared to wild-type; has impaired secretion; intracellular degradation of unsecreted material is found).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	ACAGTATCACGCCTTCTGAAT	0.398000														58			11		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44051802	44051802	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44051802C>T	uc002ijr.4	+	3	594	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MAPT_uc010dau.3_Missense_Mutation_p.A91V|MAPT_uc002ijs.4_Missense_Mutation_p.A91V|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Missense_Mutation_p.A91V|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	91					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CAGGCTGCCGCGCAGCCCCAC	0.637000														31			5		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169890386	169890386	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169890386G>A	uc003fgl.2	-	2	329	c.295C>T	c.(295-297)Cat>Tat	p.H99Y	PHC3_uc010hws.1_Missense_Mutation_p.H87Y|PHC3_uc011bpq.1_Missense_Mutation_p.H99Y|PHC3_uc011bpr.1_Missense_Mutation_p.H99Y|PHC3_uc003fgm.2_Missense_Mutation_p.H99Y|PHC3_uc003fgo.1_Missense_Mutation_p.H83Y|PHC3_uc003fgp.3_Missense_Mutation_p.H95Y|PHC3_uc003fgq.3_Missense_Mutation_p.H99Y	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	87	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			CTGCTTAAATGCTGCTGCTGA	0.468000														92			29		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111551244	111551244	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111551244G>A	uc010yxk.1	+	3	401	c.177G>A	c.(175-177)tgG>tgA	p.W59*		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	59					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TAATTTATTGGCTATTTGGTG	0.413000														178			34		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139283031	139283031	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139283031C>T	uc004chh.3	-	9	997	c.988G>A	c.(988-990)Gcc>Acc	p.A330T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	330	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CACTGGAAGGCGCTGCGGCTG	0.592000														154			33		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58319950	58319950	+	Missense_Mutation	SNP	G	A	A	rs149972398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58319950G>A	uc002enf.3	-	4	808	c.413C>T	c.(412-414)gCg>gTg	p.A138V	PRSS54_uc002eng.3_Missense_Mutation_p.A138V|PRSS54_uc010vie.2_Missense_Mutation_p.A39V	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	138	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAATGCATCGCTGTGTCTGT	0.493000														246			25		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31659391	31659391	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31659391G>A	uc003nvy.2	-	8	887	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	ABHD16A_uc003nvx.2_Missense_Mutation_p.R51W|ABHD16A_uc011dny.2_Missense_Mutation_p.R237W|ABHD16A_uc010jtc.2_Missense_Mutation_p.R51W|ABHD16A_uc011dnz.2_Missense_Mutation_p.R51W	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	270						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						GTCCCCCGCCGGTCCACAAAC	0.597000														72			14		0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172558587	172558587	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172558587G>A	uc001giq.4	+	17	2662	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	C1orf9_uc010pmm.1_Silent_p.E782E|C1orf9_uc009wwd.3_Silent_p.E738E|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	782					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		AAAAGTCTGAGAGCTTTAGTT	0.338000														66			15		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171486	34171486	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171486C>T	uc002hkd.3	+	14	1269	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	TAF15_uc002hkc.3_Missense_Mutation_p.R392W	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	395	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGCAGATTTCCGGGGGAGAGG	0.542000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									241			53		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37410520	37410520	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37410520C>T	uc002yuw.2	-	8	2489	c.1116G>A	c.(1114-1116)gaG>gaA	p.E372E	SETD4_uc021wiy.1_Silent_p.E372E|SETD4_uc002yuu.3_Non-coding_Transcript|SETD4_uc002yux.2_Silent_p.E348E	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	372				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						AACTTGTCTTCTCATTCGTAT	0.353000														159			19		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280503	105280503	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280503C>A	uc010npd.3	-	0	782	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	SERPINA7_uc004eme.2_Missense_Mutation_p.G183W|SERPINA7_uc010npe.2_Missense_Mutation_p.G183W	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	183					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	ACAACTTTCCCTTTGGTTTGC	0.408000														167			58		6.3091e-27	7.89618e-27	1	1	0
FAM198B	51313	broad.mit.edu	37	4	159091641	159091641	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159091641C>A	uc003ipq.4	-	1	1294	c.887G>T	c.(886-888)aGc>aTc	p.S296I	AK096792_uc003ipu.1_5'Flank|FAM198B_uc003ipp.4_Missense_Mutation_p.S296I|FAM198B_uc003ipr.4_Missense_Mutation_p.S296I|FAM198B_uc003ips.3_Missense_Mutation_p.S296I|AK126266_uc003ipt.1_5'Flank	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	296						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGCTTTCCTGCTCACAGACGG	0.502000											OREG0016378	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		179			33		7.61165e-28	9.54728e-28	1	1	0
FSD2	123722	broad.mit.edu	37	15	83440974	83440974	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83440974G>T	uc002bjd.2	-	6	1285	c.1118C>A	c.(1117-1119)tCt>tAt	p.S373Y	FSD2_uc010uol.1_Missense_Mutation_p.S373Y|FSD2_uc010uom.1_Missense_Mutation_p.S373Y	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	373	Fibronectin type-III 1.									breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						GACTGGAGCAGAAGGAGCTAG	0.498000														23			4		0.00024832	0.000256435	1	1	0
TAF1D	79101	broad.mit.edu	37	11	93471348	93471348	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93471348C>A	uc001ped.3	-	2	629	c.386G>T	c.(385-387)aGa>aTa	p.R129I	TAF1D_uc001pec.3_5'Flank|TAF1D_uc001pdz.3_Non-coding_Transcript|SNORA40_uc009ywh.3_5'Flank	NM_024116	NP_077021	Q9H5J8	TAF1D_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa (TAF1D), mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						GCCAGATCCTCTGCTTCTAAA	0.398000														140			23		3.62473e-10	4.06567e-10	1	1	0
EFCAB5	374786	broad.mit.edu	37	17	28417522	28417522	+	Missense_Mutation	SNP	G	A	A	rs146481233	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28417522G>A	uc002het.3	+	19	3959	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	EFCAB5_uc010cse.3_Missense_Mutation_p.R1011H|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1256							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTTCCACTTCGTGAGAGAACA	0.393000														118			41		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824322	74824322	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74824322G>A	uc021rwl.1	+	0	836	c.836G>A	c.(835-837)gGc>gAc	p.G279D	VRTN_uc001xpw.4_Missense_Mutation_p.G279D	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	279					transposition, DNA-mediated		DNA binding|transposase activity	p.P278H(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CGTGAACCTGGCCTCAGCTAC	0.657000														161			23		0	0	1	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116092980	116092980	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116092980C>A	uc001lbn.3	-	3	521	c.220_splice	c.e3+1	p.A74_splice	AFAP1L2_uc001lbo.3_Splice_Site_p.A74_splice|AFAP1L2_uc010qse.2_Splice_Site_p.A74_splice|AFAP1L2_uc001lbp.3_Splice_Site_p.A74_splice|AFAP1L2_uc001lbr.1_Splice_Site_p.A74_splice	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	74					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		AGCCTCATACCTTTGCCTTGA	0.522000														135			32		2.80507e-11	3.18974e-11	1	1	0
PCOLCE	5118	broad.mit.edu	37	7	100201161	100201161	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100201161G>A	uc003uvo.3	+	2	402	c.204_splice	c.e2+1	p.T68_splice	LOC100129845_uc011kjy.2_Intron|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Splice_Site_p.T68_splice	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	68	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGACCATAACGGTGAGAAACC	0.592000														70			8		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564024	139564024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139564024G>A	uc021zfy.1	-	9	1859	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	565						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCCTCCTTCGGCTTCAGCCTG	0.602000														153			11		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89655896	89655896	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89655896G>A	uc001dnb.3	-	6	1138	c.1022C>T	c.(1021-1023)gCt>gTt	p.A341V		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	341						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CCTCTGCACAGCCGCTGGGTT	0.592000														124			31		0	0	1	0	0
WNT3	7473	broad.mit.edu	37	17	44845788	44845788	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44845788C>T	uc002ikv.2	-	3	1085	c.966G>A	c.(964-966)agG>agA	p.R322R		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	322					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTTCTCCGTCCTCGTGTTGT	0.582000														259			72		0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23845935G>A	uc002nri.3	-	1	211	c.29C>T	c.(28-30)gCc>gTc	p.A10V		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	10	KRAB.				I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393000														165			36		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813446	24813446	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813446G>A	uc003xee.3	-	0	686	c.584C>T	c.(583-585)gCg>gTg	p.A195V		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	195	Coil 1B.|Rod.			A -> R (in Ref. 1; CAA29097).	anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCCTTTGCGCGCTTCCATCAG	0.652000														87			22		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18777494	18777494	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18777494C>T	uc003zne.4	+	18	3419	c.3267C>T	c.(3265-3267)ccC>ccT	p.P1089P		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1089						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCAGCAGCCCGAGGAGCTGC	0.667000														17			7		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98340886	98340886	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340886G>T	uc002syd.1	+	2	594	c.387G>T	c.(385-387)caG>caT	p.Q129H	ZAP70_uc010yvf.1_Missense_Mutation_p.Q129H|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	129	Interdomain A.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGTGCGCCAGACGTGGAAGC	0.701000														27			5		1	1	1	1	0
SOX5	6660	broad.mit.edu	37	12	23893858	23893858	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23893858G>T	uc001rfw.3	-	4	786	c.684C>A	c.(682-684)gcC>gcA	p.A228A	SOX5_uc001rfx.3_Silent_p.A215A|SOX5_uc001rfy.3_Silent_p.A215A|SOX5_uc010siv.2_Silent_p.A215A|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Silent_p.A180A	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	228					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CAATCTGAGAGGCAGCTAGTT	0.493000														109			19		8.10497e-08	8.79904e-08	1	1	0
TACC2	10579	broad.mit.edu	37	10	123842275	123842275	+	Missense_Mutation	SNP	C	T	T	rs143057039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842275C>T	uc001lfv.3	+	3	620	c.260C>T	c.(259-261)gCc>gTc	p.A87V	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A87V|TACC2_uc010qtv.2_Missense_Mutation_p.A87V	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	87						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACAGGGAGCCAGGGGGCCA	0.642000														165			37		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021185	62021185	+	Missense_Mutation	SNP	G	A	A	rs121908547		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021185G>A	uc002jds.1	-	21	4015	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1313M(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CTGTTCCTCCGTCATAAAGAT	0.552000														66			10		0	0	1	0	0
ASAP1	50807	broad.mit.edu	37	8	131146542	131146542	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131146542G>A	uc003yta.2	-	15	1445	c.1217_splice	c.e15+1	p.A406_splice	ASAP1_uc003ysz.2_Splice_Site_p.A217_splice|ASAP1_uc011liw.2_Splice_Site_p.A399_splice	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	406	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTACTTACGCTACATAATC	0.328000														68			19		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49971803	49971803	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49971803C>A	uc002pnt.3	+	14	2220	c.2104C>A	c.(2104-2106)Ctg>Atg	p.L702M	ALDH16A1_uc010yar.2_Missense_Mutation_p.L651M|ALDH16A1_uc010yas.2_Missense_Mutation_p.L537M|ALDH16A1_uc010yat.2_Missense_Mutation_p.L539M	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	702							oxidoreductase activity|protein binding	p.L701L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CTGTCCTCTGCTGGCCCTGGA	0.667000														350			87		4.64247e-43	5.91067e-43	1	1	0
MYT1	4661	broad.mit.edu	37	20	62871223	62871223	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62871223C>T	uc002yii.3	+	21	3568	c.3204C>T	c.(3202-3204)atC>atT	p.I1068I	MYT1_uc002yij.3_Silent_p.I727I	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1068					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGCCCTCATCCAAAGTCTCG	0.597000														274			48		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588276	57588276	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57588276C>T	uc001snd.3	+	48	8524	c.8058C>T	c.(8056-8058)cgC>cgT	p.R2686R	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2686	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGATGAGCGCGACTGCCCAG	0.677000														418			45		0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45577225	45577225	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45577225A>C	uc003bfr.3	+	5	1524	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D	NUP50_uc003bfs.3_Missense_Mutation_p.E326D|NUP50_uc011aqn.2_Missense_Mutation_p.E104D|NUP50_uc003bft.3_Missense_Mutation_p.E326D|NUP50_uc011aqo.1_Missense_Mutation_p.E104D	NM_007172	NP_705931	Q9UKX7	NUP50_HUMAN	Homo sapiens nucleoporin 50kDa (NUP50), transcript variant 2, mRNA.	354	RanBD1.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGTAAAAGAAGAAGATGCTT	0.418000														80			13		0	0	1	0	0
EML2	24139	broad.mit.edu	37	19	46124788	46124788	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46124788G>A	uc010xxm.2	-	12	1625	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	EML2_uc002pcn.3_Missense_Mutation_p.R317W|EML2_uc002pcp.3_Missense_Mutation_p.R201W|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R464W|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.R317W|EML2_uc010ekj.3_Silent_p.G283G	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	317					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGGACCACCCGCCGATCACGG	0.687000														143			45		0	0	1	0	0
CER1	9350	broad.mit.edu	37	9	14720268	14720268	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720268G>A	uc003zlj.3	-	1	669	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	208	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		CAGGCAAACAGTGAGAGCAGG	0.522000														106			20		0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30433572	30433572	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30433572A>G	uc002ynb.3	-	13	1548	c.1449_splice	c.e13+1	p.E483_splice	CCT8_uc011acp.2_Splice_Site_p.E464_splice|CCT8_uc002yna.3_Splice_Site_p.E432_splice|CCT8_uc011acq.2_Splice_Site_p.E410_splice	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	483					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTTTTCAAATACCTCAATATC	0.323000														72			7		0	0	1	0	0
HAPLN1	1404	broad.mit.edu	37	5	82937350	82937350	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82937350G>A	uc003kim.3	-	3	1101	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	HAPLN1_uc003kin.3_Silent_p.L344L	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	344	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ACACCATACAGCTTATGCTTT	0.478000														287			52		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265548	53265548	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265548G>T	uc003dgo.3	-	6	939	c.767C>A	c.(766-768)tCt>tAt	p.S256Y	TKT_uc003dgp.2_5'Flank|TKT_uc011beo.1_Missense_Mutation_p.S209Y|TKT_uc003dgq.3_Missense_Mutation_p.S256Y|TKT_uc011beq.2_Missense_Mutation_p.S264Y|TKT_uc011ber.2_Missense_Mutation_p.S58Y	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	256					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCCATGCCAAGACTCCTTATC	0.562000														86			25		7.07758e-08	7.69019e-08	1	1	0
FGB	2244	broad.mit.edu	37	4	155487113	155487113	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155487113C>A	uc003ioa.4	+	1	307	c.268C>A	c.(268-270)Cct>Act	p.P90T	FGB_uc010ipu.1_Non-coding_Transcript|FGB_uc010ipv.3_Intron	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	90			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAGAAAAGCCCCTGATGCTGG	0.572000														90			12		0.010729	0.0108564	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70980889	70980889	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70980889C>T	uc001swb.4	-	6	1585	c.1555G>A	c.(1555-1557)Gaa>Aaa	p.E519K	PTPRB_uc010sto.2_Missense_Mutation_p.E519K|PTPRB_uc010stp.2_Missense_Mutation_p.E429K|PTPRB_uc001swc.4_Missense_Mutation_p.E737K|PTPRB_uc001swa.4_Missense_Mutation_p.E737K|PTPRB_uc001swd.4_Missense_Mutation_p.E736K|PTPRB_uc009zrr.2_Missense_Mutation_p.E616K	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	519	Fibronectin type-III 6.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGTGAATTCTTTGGCATCT	0.433000														92			19		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32171927	32171927	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32171927C>T	uc003obb.3	-	18	3244	c.3105G>A	c.(3103-3105)ctG>ctA	p.L1035L	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1035	EGF-like 26.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGTCCAGGCAGACACTGGC	0.617000														65			14		0	0	1	0	0
RG9MTD3	158234	broad.mit.edu	37	9	37777645	37777645	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37777645G>T	uc004aai.3	+	8	969	c.892G>T	c.(892-894)Gca>Tca	p.A298S	RG9MTD3_uc011lqo.2_Missense_Mutation_p.A238S|RG9MTD3_uc011lqp.2_Missense_Mutation_p.A211S|RG9MTD3_uc011lqq.2_Missense_Mutation_p.A178S|RG9MTD3_uc004aaj.3_Non-coding_Transcript|RG9MTD3_uc004aak.3_Missense_Mutation_p.A203S	NM_144964	NP_659401	Q6PF06	RG9D3_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 3 (RG9MTD3), mRNA.	298							methyltransferase activity			endometrium(1)|large_intestine(2)|lung(1)	4				GBM - Glioblastoma multiforme(29;0.00817)|Lung(182;0.226)		CTGGCCTGAAGCATTGAAGAA	0.458000														115			13		9.31168e-06	9.81217e-06	1	1	0
WDR86	349136	broad.mit.edu	37	7	151079024	151079024	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151079024C>T	uc011kvk.1	-	4	1419	c.970G>A	c.(970-972)Gca>Aca	p.A324T	WDR86_uc003wka.2_Silent_p.A260A|WDR86_uc003wkb.2_Silent_p.A302A|WDR86_uc003wkc.2_Missense_Mutation_p.R129H			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	338										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGACTGCGCGTCGAAGG	0.706000														46			9		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431712	45431712	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431712G>A	uc001wvw.3	+	0	297	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	FAM179B_uc001wvv.3_Missense_Mutation_p.A30T|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A30T|FAM179B_uc001wvu.3_Missense_Mutation_p.A30T	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	30							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TCGTCCTTCCGCCCCAGAGAC	0.617000														73			21		0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65063055	65063055	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65063055T>C	uc001odj.3	+	15	1837	c.1505T>C	c.(1504-1506)aTc>aCc	p.I502T	POLA2_uc010rod.1_Missense_Mutation_p.I294T|POLA2_uc001odk.3_Missense_Mutation_p.I199T	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	502					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CTCAAGCACATCTTGACCCAG	0.488000														117			22		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76784265	76784265	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76784265G>A	uc001sye.1	-	10	1582	c.1102C>T	c.(1102-1104)Cct>Tct	p.P368S	OSBPL8_uc001syf.1_Missense_Mutation_p.P326S|OSBPL8_uc001syg.1_Missense_Mutation_p.P326S|OSBPL8_uc001syh.1_Missense_Mutation_p.P343S	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	368					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACAGGCTCAGGTTCGATATAT	0.393000														121			26		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2168027	2168027	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2168027C>T	uc002cos.1	-	4	1175	c.966G>A	c.(964-966)tcG>tcA	p.S322S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S322S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	322	PKD 1.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CATAGCGATGCGAGGCAGCCG	0.701000														52			22		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353281	17353281	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17353281G>A	uc002dfa.3	-	2	562	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	159					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.K158N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CATTCTCAAAGTCTTTGGGGA	0.502000														170			41		0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10073915	10073915	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10073915T>C	uc002qzz.3	+	14	1669	c.1569T>C	c.(1567-1569)taT>taC	p.Y523Y	TAF1B_uc010yja.2_Silent_p.Y268Y|TAF1B_uc010exd.3_Silent_p.Y268Y	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	523					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCTAGCTATTGTACACATG	0.348000														45			14		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201252867	201252867	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201252867G>A	uc001gwd.3	+	0	288	c.37G>A	c.(37-39)Gaa>Aaa	p.E13K	PKP1_uc001gwe.3_Missense_Mutation_p.E13K|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	13					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTTGGCGTACGAATGCTTCCA	0.652000														76			25		0	0	1	0	0
CCNI	10983	broad.mit.edu	37	4	77976531	77976531	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77976531G>A	uc003hkm.3	-	5	1006	c.462C>T	c.(460-462)ttC>ttT	p.F154F	CCNI_uc011ccb.2_Silent_p.F140F	NM_006835	NP_006826	Q14094	CCNI_HUMAN	Homo sapiens cyclin I (CCNI), mRNA.	154					spermatogenesis					NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9						CAATGGCATGGAACTGAAAAT	0.333000														58			4		0	0	1	0	0
KREMEN1	83999	broad.mit.edu	37	22	29517357	29517357	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29517357T>G	uc011akm.1	+	3	418	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KREMEN1_uc003ael.3_Missense_Mutation_p.L122R|KREMEN1_uc011akn.2_Missense_Mutation_p.L5R	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	120	WSC.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTGGAAACCTTGGCTGCTAC	0.423000														109			19		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65631319	65631319	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65631319C>T	uc001ofv.4	+	9	1359	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	336	ERCC4.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GGAGCGCAAGCGACTGGATGA	0.607000								Homologous recombination						258			28		0	0	1	0	0
POU2F1	5451	broad.mit.edu	37	1	167381303	167381303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167381303G>A	uc001gec.3	+	14	1833	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	POU2F1_uc001gee.3_Missense_Mutation_p.A555T|POU2F1_uc010plh.2_Missense_Mutation_p.A492T|POU2F1_uc001ged.3_Missense_Mutation_p.A530T|POU2F1_uc001gef.3_Missense_Mutation_p.A544T|POU2F1_uc001geg.3_Missense_Mutation_p.A430T|POU2F1_uc009wvg.1_Non-coding_Transcript	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	532					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TTCTGCCTCAGCCTCCACCTC	0.602000														112			17		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61958155	61958155	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958155C>A	uc011aau.2	+	30	3608	c.3508C>A	c.(3508-3510)Cca>Aca	p.P1170T	COL20A1_uc011aav.2_Missense_Mutation_p.P991T	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1170	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GCGAGGACCTCCAGGGACCGT	0.622000														22			6		0.000157383	0.000162836	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140308328	140308328	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140308328G>T	uc003lih.2	+	0	2027	c.1851G>T	c.(1849-1851)gaG>gaT	p.E617D	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_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.E617D	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATAGGTGAGCTCCGTACTG	0.517000														149			32		9.65021e-13	1.11782e-12	1	1	0
PTF1A	256297	broad.mit.edu	37	10	23481479	23481479	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23481479A>T	uc001irp.3	+	0	20	c.20A>T	c.(19-21)gAg>gTg	p.E7V		NM_178161	NP_835455	Q7RTS3	PTF1A_HUMAN	Homo sapiens pancreas specific transcription factor, 1a (PTF1A), mRNA.	7					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GTGTTGCTGGAGCACTTCCCC	0.647000														148			22		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155219556	155219556	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155219556A>C	uc003inw.2	-	17	4545	c.4545T>G	c.(4543-4545)taT>taG	p.Y1515*		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1515	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAGTCAGAAAATACTCAGTTT	0.478000														168			35		0	0	1	0	0
AHSA2	130872	broad.mit.edu	37	2	61411915	61411915	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61411915C>A	uc002sbb.2	+	3	1313	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	AHSA2_uc002sbc.2_Missense_Mutation_p.L19M	NM_152392	NP_689605	Q719I0	AHSA2_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast) (AHSA2), mRNA.	181					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAAAAGAAAACTGAGTGGGAA	0.438000														82			20		2.21704e-12	2.55528e-12	1	1	0
RPTN	126638	broad.mit.edu	37	1	152128294	152128294	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128294G>A	uc001ezs.1	-	2	1346	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	427	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.H426N(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCGTAGTGAGAAC	0.522000														702			248		0	0	1	0	0
PIN1	5300	broad.mit.edu	37	19	9949194	9949194	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9949194C>T	uc002mml.2	+	1	279	c.141C>T	c.(139-141)aaC>aaT	p.N47N	PIN1_uc002mmk.2_Silent_p.N47N|PIN1_uc021uor.1_Non-coding_Transcript|PIN1_uc002mmn.2_Non-coding_Transcript	NM_006221	NP_006212	Q13526	PIN1_HUMAN	Homo sapiens peptidylprolyl cis/trans isomerase, NIMA-interacting 1 (PIN1), transcript variant 1, mRNA.	47					cell cycle|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell motility|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of type I interferon production|positive regulation of Rho GTPase activity|positive regulation of ubiquitin-protein ligase activity|protein folding|regulation of mitosis|regulation of pathway-restricted SMAD protein phosphorylation	nucleoplasm	GTPase activating protein binding|mitogen-activated protein kinase kinase binding|peptidyl-prolyl cis-trans isomerase activity|phosphoserine binding|phosphothreonine binding			skin(3)	3						GTGGCAAAAACGGGCAGGGGG	0.667000														23			8		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139912431	139912431	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139912431C>T	uc004ckm.1	-	14	2227	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	ABCA2_uc022bpy.1_Missense_Mutation_p.R627H|ABCA2_uc022bpz.1_Missense_Mutation_p.R697H|ABCA2_uc011mem.1_Missense_Mutation_p.R696H|ABCA2_uc004ckl.1_Missense_Mutation_p.R627H|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	696					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACTCATCGCGTGTGTAGCA	0.642000														87			20		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88732530	88732530	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88732530A>T	uc003hqx.4	+	6	520	c.422A>T	c.(421-423)aAt>aTt	p.N141I		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	141	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GATATAACAAATAAAGCTACA	0.378000														58			11		0	0	1	0	0
CPEB3	22849	broad.mit.edu	37	10	93999697	93999697	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93999697C>A	uc001khw.2	-	1	615	c.411G>T	c.(409-411)caG>caT	p.Q137H	CPEB3_uc001khu.2_Missense_Mutation_p.Q137H|CPEB3_uc001khv.2_Missense_Mutation_p.Q137H|CPEB3_uc010qnn.2_Missense_Mutation_p.Q137H	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	137	Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GCGGGAAGTTCTGGAAGAGCA	0.662000														60			5		0.000602214	0.000618135	1	1	0
WTIP	126374	broad.mit.edu	37	19	34991053	34991053	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34991053G>T	uc002nvm.3	+	7	1172	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I		NM_001080436	NP_001073905			Homo sapiens Wilms tumor 1 interacting protein (WTIP), mRNA.											NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTGCAGCTGAGCGGGGAGGAG	0.677000														66			11		0.00185496	0.00189487	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77675938	77675938	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675938C>T	uc011cbx.2	+	6	5255	c.4302C>T	c.(4300-4302)gcC>gcT	p.A1434A	SHROOM3_uc003hkg.3_Silent_p.A1212A	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1434					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAAAGTGGGCCCACGCAGCCA	0.562000														76			14		0	0	1	0	0
ZNF561	93134	broad.mit.edu	37	19	9721015	9721015	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9721015C>T	uc002mlu.3	-	5	1527	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	ZNF561_uc010dwu.3_Missense_Mutation_p.R372Q|ZNF561_uc010xkr.2_Missense_Mutation_p.R305Q	NM_152289	NP_689502	Q8N587	ZN561_HUMAN	Homo sapiens zinc finger protein 561 (ZNF561), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GGTATGAGTTCGCAGGTGAAC	0.418000														225			34		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229786	140229786	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229786G>A	uc003lhu.2	+	0	2430	c.1706G>A	c.(1705-1707)cGg>cAg	p.R569Q	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_uc003lht.1_Missense_Mutation_p.R569Q	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	583	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACACCTCGGATGAGGGGC	0.711000														321			77		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168312006	168312006	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168312006G>T	uc021zik.1	+	14	2070	c.1751G>T	c.(1750-1752)aGc>aTc	p.S584I	MLLT4_uc003qwb.1_Missense_Mutation_p.S609I|MLLT4_uc003qwc.2_Missense_Mutation_p.S625I|MLLT4_uc021zij.1_Missense_Mutation_p.S609I|MLLT4_uc003qwf.3_Missense_Mutation_p.S310I|MLLT4_uc021zim.1_Missense_Mutation_p.S171I|MLLT4_uc003qwg.1_5'Flank	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	625					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TATACTAATAGCTCTACAGTC	0.348000			T	MLL	AL									143			22		1.10513e-12	1.27896e-12	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247654924	247654924	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654924G>T	uc001icz.2	+	0	555	c.495G>T	c.(493-495)caG>caT	p.Q165H		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGACGATGCAGCTCTCCCGGT	0.557000														177			43		6.5261e-18	7.85662e-18	1	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678964	37678964	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37678964T>C	uc001uwm.1	-	0	838	c.430A>G	c.(430-432)Atg>Gtg	p.M144V		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	144	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		CCAGTACCCATCAGGAAGTTA	0.408000														143			26		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136068110	136068110	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136068110G>A	uc003era.1	-	28	3453	c.3161C>T	c.(3160-3162)aCt>aTt	p.T1054I	STAG1_uc003erb.1_Missense_Mutation_p.T1054I	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1054					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCACCCCCAGTGACTAATGA	0.418000														120			32		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37331826	37331826	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37331826T>C	uc003jku.1	-	13	1708	c.1590A>G	c.(1588-1590)ggA>ggG	p.G530G	NUP155_uc003jkt.1_Silent_p.G471G|NUP155_uc010iuz.1_Silent_p.G530G	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	530					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)			CTTCTCCATCTCCTCCCACAT	0.328000														75			14		0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99837462	99837462	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99837462T>C	uc001tge.2	-	10	1981	c.1564A>G	c.(1564-1566)Att>Gtt	p.I522V	ANKS1B_uc001tgf.2_Missense_Mutation_p.I102V|ANKS1B_uc009ztt.1_Missense_Mutation_p.I488V	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	522						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TGGGGTCGAATGACTTTTACA	0.423000														78			10		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39082360	39082360	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39082360G>T	uc002rrf.3	-	7	1843	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M	DHX57_uc002rrd.4_5'UTR|DHX57_uc002rre.3_Missense_Mutation_p.L15M|DHX57_uc002rrg.3_Missense_Mutation_p.L582M	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	582	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GAATCATCCAGAATAAACTGC	0.413000														229			58		3.53049e-34	4.4646e-34	1	1	0
IGSF5	150084	broad.mit.edu	37	21	41137582	41137582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41137582G>A	uc002yyo.3	+	2	324	c.221G>A	c.(220-222)aGt>aAt	p.S74N		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	74	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				TGGGCTCTCAGTGACATGGTG	0.587000														105			8		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5212104	5212104	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5212104C>T	uc002mbv.3	-	31	5161	c.4927G>A	c.(4927-4929)Gag>Aag	p.E1643K	PTPRS_uc002mbu.1_Missense_Mutation_p.E1212K|PTPRS_uc010xin.2_Missense_Mutation_p.E1185K|PTPRS_uc002mbw.3_Missense_Mutation_p.E1605K|PTPRS_uc002mbx.3_Missense_Mutation_p.E1200K|PTPRS_uc002mby.3_Missense_Mutation_p.E1196K	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1643	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		AGCAGGGCCTCGTGGATGAAG	0.607000														141			33		0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65156957	65156957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65156957G>A	uc001odu.4	+	2	403	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	FRMD8_uc009yqj.3_Intron|FRMD8_uc010rof.2_Missense_Mutation_p.A71T	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	71	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						TCCAGACATCGCCCTGGATGT	0.647000														58			17		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703845	7703845	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7703845C>A	uc002cys.2	+	11	1774	c.786C>A	c.(784-786)acC>acA	p.T262T	RBFOX1_uc010buf.1_Silent_p.T262T|RBFOX1_uc002cyr.1_Silent_p.T261T|RBFOX1_uc002cyt.2_Silent_p.T235T|RBFOX1_uc010uxz.1_Silent_p.T305T|RBFOX1_uc010uya.1_Silent_p.T219T|RBFOX1_uc002cyv.1_Silent_p.T262T|RBFOX1_uc010uyb.1_Silent_p.T262T|RBFOX1_uc002cyw.2_Silent_p.T282T|RBFOX1_uc002cyy.2_Silent_p.T282T|RBFOX1_uc002cyx.2_Silent_p.T282T|RBFOX1_uc010uyc.1_Silent_p.T255T	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	262					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding	p.T282T(2)|p.T262T(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGCAGCCACCGCCGCGGCCG	0.706000														125			33		4.4194e-11	5.01679e-11	1	1	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417696	150417696	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417696G>A	uc003whq.3	+	2	744	c.604G>A	c.(604-606)Gag>Aag	p.E202K	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		AGCCCAGGTGGAGCAGCTGCT	0.682000														86			13		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41457658	41457658	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41457658G>A	uc002yyq.1	-	22	4455	c.4003C>T	c.(4003-4005)Cgg>Tgg	p.R1335W	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1335	Ig-like C2-type 10.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATGCTCCTCCGCCCATCAATC	0.458000														100			14		0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27373988	27373988	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27373988A>G	uc002don.3	+	10	1557	c.1315A>G	c.(1315-1317)Acg>Gcg	p.T439A	IL4R_uc002dop.4_Missense_Mutation_p.T424A|IL4R_uc010bxy.3_Missense_Mutation_p.T439A|IL4R_uc002doo.3_Missense_Mutation_p.T279A	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	439	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.S438I(1)|p.S438G(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCGGGAAGTACGAGTGCTCA	0.612000														211			10		0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124845009	124845009	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124845009A>C	uc001qbm.4	+	4	793	c.534A>C	c.(532-534)aaA>aaC	p.K178N		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	178						centrosome		p.M177I(1)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAACTATGAAACAGGCACGTC	0.408000														24			7		0	0	1	0	0
RAC3	5881	broad.mit.edu	37	17	79990867	79990867	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79990867C>T	uc002kdf.3	+	3	376	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_005052	NP_005043	P60763	RAC3_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.	90					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CGGCCTCCTTCGAGAATGTTC	0.617000														234			49		0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54669172	54669172	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54669172A>G	uc010erf.3	-	5	1076	c.944T>C	c.(943-945)aTc>aCc	p.I315T	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.I309T	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	315						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTACAAGATGATGCGCTGGCG	0.627000														42			13		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114483023	114483023	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114483023C>A	uc003kqs.3	-	2	876	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TRIM36_uc011cwc.2_Missense_Mutation_p.D111Y|TRIM36_uc003kqt.3_5'UTR	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	123						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TCTCCAAGATCCACATCATGC	0.443000														170			41		8.69298e-16	1.0319e-15	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109793139	109793139	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109793139G>A	uc001dxa.4	+	0	499	c.438G>A	c.(436-438)caG>caA	p.Q146Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	146					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCAGATGCCAGTCCTGCAAGC	0.637000														134			14		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106498449	106498449	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106498449G>A	uc002tdg.3	+	3	1168	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.A298T	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	298	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						GGCCGAGTGCGCCCTCAACGA	0.672000														125			13		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66084569	66084569	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084569C>T	uc021xzk.1	+	2	897	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	MAST4_uc010iwz.3_Missense_Mutation_p.R197C|MAST4_uc003jur.4_Missense_Mutation_p.R197C	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	197						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAACCTCGTGCGCATGCGCAG	0.657000														94			12		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662630	99662630	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99662630C>T	uc010nmz.3	-	0	2642	c.966G>A	c.(964-966)ggG>ggA	p.G322G	PCDH19_uc004efw.4_Silent_p.G322G|PCDH19_uc004efx.4_Silent_p.G322G	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	322	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGGAATTGGGCCCCAAGTCCT	0.577000														138			38		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80550874	80550874	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80550874C>T	uc003khc.4	+	5	752	c.510C>T	c.(508-510)agC>agT	p.S170S	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Silent_p.S170S|CKMT2_uc003khd.4_Silent_p.S170S|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	170	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	CTGGCCGCAGCATCCGTGGGC	0.662000														162			39		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52699025	52699025	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52699025G>T	uc003pba.1	-	4	398	c.328C>A	c.(328-330)Ctc>Atc	p.L110I		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	110	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGACATATGAGCAGAAGAAGG	0.383000														195			35		2.47316e-13	2.8801e-13	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183225986	183225986	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183225986A>G	uc003flr.3	-	2	828	c.770T>C	c.(769-771)gTc>gCc	p.V257A	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Missense_Mutation_p.V255A	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	257	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GTTCTCGAGGACATAGGGGAG	0.572000														180			46		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18145222	18145222	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18145222G>T	uc002gsp.3	+	18	2852	c.2791G>T	c.(2791-2793)Gaa>Taa	p.E931*		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	931					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					ATCCCCATCAGAATTTGAACG	0.572000														230			46		2.00842e-17	2.41055e-17	1	1	0
PPP2R3A	5523	broad.mit.edu	37	3	135722249	135722249	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135722249T>G	uc003eqv.2	+	1	2526	c.1909T>G	c.(1909-1911)Tta>Gta	p.L637V	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	637					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCAGGCCAATTTATCAGTCTG	0.418000														108			16		0	0	1	0	0
RILPL1	353116	broad.mit.edu	37	12	123983096	123983096	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123983096G>A	uc001ufe.2	-	3	1032	c.796C>T	c.(796-798)Cct>Tct	p.P266S	RILPL1_uc001ufd.2_Missense_Mutation_p.P115S|RILPL1_uc010tas.1_Missense_Mutation_p.P266S	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	266					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CTCACCTCAGGCTCCTCCTCC	0.607000														133			27		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495820	71495820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495820G>A	uc003kbw.4	+	4	6879	c.6638G>A	c.(6637-6639)cGc>cAc	p.R2213H	MAP1B_uc010iyw.1_Missense_Mutation_p.R2230H|MAP1B_uc010iyx.1_Missense_Mutation_p.R2087H|MAP1B_uc010iyy.1_Missense_Mutation_p.R2087H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2213						microtubule|microtubule associated complex	structural molecule activity	p.R2213H(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTTCGCCACGCCACCCTGAT	0.537000														271			65		0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78458537	78458537	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78458537C>A	uc002bdd.3	+	9	937	c.910C>A	c.(910-912)Ccc>Acc	p.P304T	IDH3A_uc010umt.2_Missense_Mutation_p.P269T|IDH3A_uc010umu.2_Missense_Mutation_p.P195T|IDH3A_uc002bdf.3_Missense_Mutation_p.P155T|IDH3A_uc010umv.2_Missense_Mutation_p.P254T|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.P217T	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	304					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CATGGCGAATCCCACAGCCCT	0.507000														251			50		1.86633e-21	2.29124e-21	1	1	0
EDAR	10913	broad.mit.edu	37	2	109524431	109524431	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109524431C>A	uc010fjn.3	-	9	1491	c.944G>T	c.(943-945)aGc>aTc	p.S315I	EDAR_uc010yws.2_Missense_Mutation_p.S315I|EDAR_uc002teq.4_Missense_Mutation_p.S283I	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	283					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACTGTCGACGCTCCGGCTCAG	0.632000														78			37		2.42023e-17	2.90129e-17	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75981992	75981992	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981992C>T	uc002baw.3	-	2	1507	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	472	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCTCGGGTCACGCTGAACAGC	0.662000														362			44		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53208230	53208230	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53208230A>C	uc002xwy.3	+	4	705	c.485A>C	c.(484-486)gAg>gCg	p.E162A		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	162	IRS-type PTB.						insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			ATTACATATGAGTATATCTGT	0.458000														102			33		0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38165063	38165063	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38165063C>T	uc003atr.3	+	19	6875	c.6604C>T	c.(6604-6606)Ctg>Ttg	p.L2202L	TRIOBP_uc003atu.3_Silent_p.L2030L|TRIOBP_uc003atw.3_Silent_p.L489L|TRIOBP_uc003atx.1_Silent_p.L85L|TRIOBP_uc010gxh.3_Silent_p.L85L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	2202					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAAGCGAGAGCTGCAGGTGCT	0.622000														139			21		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389159	57389159	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389159C>A	uc021qzf.1	+	0	166	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	GPR182_uc001smk.3_Missense_Mutation_p.L56I	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	56						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GCGCGTGGTCCTCTTTGCCCT	0.592000														297			64		3.86002e-21	4.73107e-21	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24788408	24788408	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24788408G>T	uc002dmm.3	+	4	432	c.318G>T	c.(316-318)caG>caT	p.Q106H	TNRC6A_uc010bxs.3_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	106	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agccgcagcagcagcagccac	0.602000														134			8		1.06961e-07	1.15953e-07	1	1	0
PRKCI	5584	broad.mit.edu	37	3	169988246	169988246	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169988246G>A	uc003fgs.2	+	5	726	c.488G>A	c.(487-489)gGa>gAa	p.G163E		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	163	Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CGAATATGGGGACTTGGACGC	0.418000														127			23		0	0	1	0	0
C7orf45	136263	broad.mit.edu	37	7	129856189	129856189	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129856189G>T	uc003vpp.3	+	2	661	c.614G>T	c.(613-615)aGa>aTa	p.R205I		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	205						integral to membrane				endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					AAAGCCTTGAGAACCAACGAA	0.468000														220			41		5.04308e-16	5.99817e-16	1	1	0
VPS26A	9559	broad.mit.edu	37	10	70892692	70892692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70892692C>T	uc001jpb.3	+	1	168	c.42C>T	c.(40-42)atC>atT	p.I14I	VPS26A_uc001jpc.3_Silent_p.I14I|VPS26A_uc009xqa.3_5'UTR|VPS26A_uc001jpd.3_5'UTR	NM_004896	NP_004887	O75436	VP26A_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog A (S. pombe) (VPS26A), transcript variant 1, mRNA.	14					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						TTTGTGAGATCGATATTGTTC	0.333000														67			17		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183793529	183793529	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183793529A>G	uc002upc.3	-	27	3454	c.3052T>C	c.(3052-3054)Tac>Cac	p.Y1018H	NCKAP1_uc002upb.3_Missense_Mutation_p.Y1024H	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	1018					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCAGGGCTGTACTGAGACATC	0.363000														76			22		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104432575	104432575	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104432575C>T	uc003yln.3	+	1	887	c.610C>T	c.(610-612)Cga>Tga	p.R204*	DCAF13_uc003ylm.1_Intron	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	52					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						CAAACTGGAACGAGTATTTGC	0.428000														82			8		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689807	10689807	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689807C>T	uc001arn.3	+	8	918	c.897C>T	c.(895-897)ggC>ggT	p.G299G	PEX14_uc009vmv.3_Silent_p.G235G|PEX14_uc010oam.2_Silent_p.G235G|PEX14_uc010oan.2_Silent_p.G256G|PEX14_uc009vmw.3_Silent_p.G235G	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	299					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGAGGAAGGCGAGGGGGTGG	0.657000														31			9		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608988	4608988	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608988G>T	uc010qyh.2	+	0	968	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P315S(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		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)		GATCATCCCAGCCACCTTAAA	0.522000														283			30		1.88708e-17	2.26542e-17	1	1	0
NOV	4856	broad.mit.edu	37	8	120430340	120430340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430340G>A	uc003yoq.2	+	2	574	c.353G>A	c.(352-354)cGc>cAc	p.R118H		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	118	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCATCTACCGCAGTGGAGAG	0.498000														117			10		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160020017	160020017	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160020017C>A	uc002uag.3	+	7	1180	c.906C>A	c.(904-906)ggC>ggA	p.G302G	TANC1_uc010fol.1_Silent_p.G196G|TANC1_uc010zcm.2_Silent_p.G301G|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	302						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATTCTCAGGGCTCCAGCTCAC	0.562000														79			22		1.87028e-06	1.99088e-06	1	1	0
DNAH12	201625	broad.mit.edu	37	3	57494905	57494905	+	Silent	SNP	C	T	T	rs150553536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57494905C>T	uc003dit.2	-	5	685	c.504G>A	c.(502-504)tcG>tcA	p.S168S	DNAH12_uc003diu.2_Silent_p.S168S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	168	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CATCTTCAAGCGATTTAACTG	0.308000														55			17		0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34887303	34887303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34887303G>A	uc002nvf.3	+	13	1447	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	GPI_uc010xrv.2_Missense_Mutation_p.G398D|GPI_uc002nvg.2_Missense_Mutation_p.G387D|GPI_uc010xrw.2_Missense_Mutation_p.G359D|GPI_uc002nvi.2_Missense_Mutation_p.G50D	NM_000175	NP_000166	P06744	G6PI_HUMAN	Homo sapiens glucose-6-phosphate isomerase (GPI), transcript variant 2, mRNA.	387				L -> V (in Ref. 2; AAF22645).	angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GGGACCAATGGCCAGCATGCT	0.562000														134			26		0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24581622	24581622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24581622C>T	uc002dmh.3	+	16	4651	c.3611C>T	c.(3610-3612)gCg>gTg	p.A1204V	RBBP6_uc010vcb.1_Missense_Mutation_p.A1071V|RBBP6_uc002dmi.3_Missense_Mutation_p.A1170V|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.A1037V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1204					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.A1204V(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCTTTAAGTGCGCCAGCCAAA	0.368000														87			19		0	0	1	0	0
PANK2	80025	broad.mit.edu	37	20	3869814	3869814	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3869814C>T	uc002wkc.3	+	0	73	c.67C>T	c.(67-69)Cta>Tta	p.L23L	BC012193_uc002wjz.2_5'Flank|BC012193_uc002wka.1_5'Flank|PANK2_uc002wkb.3_Intron|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_5'Flank|PANK2_uc002wkf.3_5'Flank	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	23					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTCTTCTGGGCTACACCGCCT	0.672000														23			4		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40827933	40827933	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827933G>A	uc002xkg.3	-	15	2622	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V	PTPRT_uc010ggj.3_Missense_Mutation_p.A832V|PTPRT_uc010ggi.3_Missense_Mutation_p.A16V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	813					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATTGCGGCTGGCGCTGAGCTT	0.572000														558			68		0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15677047	15677047	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15677047A>G	uc011avv.2	+	1	255	c.167A>G	c.(166-168)gAg>gGg	p.E56G	BTD_uc003cah.3_Missense_Mutation_p.E54G|BTD_uc011avw.2_Missense_Mutation_p.E56G|BTD_uc011avx.2_Missense_Mutation_p.E34G	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	54					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GACCATCACGAGGCTGAATAT	0.567000														216			45		0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17426835	17426835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17426835G>A	uc003ncb.3	+	2	379	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.V46M|CAP2_uc011djb.2_Missense_Mutation_p.V46M|CAP2_uc011djc.2_Missense_Mutation_p.V46M|CAP2_uc011djd.2_Missense_Mutation_p.V46M	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	46					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGCACCCTCCGTGGAAGCCTT	0.527000														135			37		0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18221147	18221147	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18221147G>A	uc002gsy.4	+	0	2554	c.2044G>A	c.(2044-2046)Gcg>Acg	p.A682T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	682										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAGCAGTGTAGCGTCCACCAG	0.562000														135			27		0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124221607	124221607	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124221607T>C	uc001ufr.3	+	9	1074	c.826_splice	c.e9-1	p.V276_splice	ATP6V0A2_uc001ufq.1_Splice_Site_p.V276_splice	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	276					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		CTTCCCCAGGTACTGCACAAA	0.502000														133			34		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142621	21142621	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142621A>G	uc002wsb.3	+	4	648	c.515A>G	c.(514-516)gAt>gGt	p.D172G	PLK1S1_uc010zsh.2_Missense_Mutation_p.D69G|PLK1S1_uc010zsi.2_Missense_Mutation_p.D39G|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	172					spindle organization	centrosome	protein kinase binding										AGCATGAGAGATTTCAGTACA	0.473000														70			13		0	0	1	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263408	144263408	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144263408T>G	uc003qjv.3	-	2	1811	c.545A>C	c.(544-546)aAg>aCg	p.K182T	PLAGL1_uc003qjx.3_Missense_Mutation_p.K182T|PLAGL1_uc003qjy.3_Missense_Mutation_p.K182T|PLAGL1_uc010khl.3_Missense_Mutation_p.K182T|PLAGL1_uc010khm.3_Missense_Mutation_p.K182T|PLAGL1_uc003qjz.3_Missense_Mutation_p.K182T|PLAGL1_uc003qka.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkb.3_Missense_Mutation_p.K130T|PLAGL1_uc003qkc.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkd.3_Missense_Mutation_p.K130T|PLAGL1_uc003qke.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkf.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkg.3_Missense_Mutation_p.K130T|PLAGL1_uc003qkh.3_Missense_Mutation_p.K182T|PLAGL1_uc003qki.3_Missense_Mutation_p.K130T|PLAGL1_uc003qkj.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkk.3_Missense_Mutation_p.K130T|PLAGL1_uc003qkl.3_Missense_Mutation_p.K130T|PLAGL1_uc003qkm.3_Missense_Mutation_p.K182T|PLAGL1_uc010khn.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkn.3_Missense_Mutation_p.K130T|PLAGL1_uc003qko.3_Missense_Mutation_p.K182T|PLAGL1_uc003qkp.3_Missense_Mutation_p.K130T|PLAGL1_uc003qjw.3_Missense_Mutation_p.K130T|PLAGL1_uc021zgj.1_Missense_Mutation_p.K130T	NM_002656	NP_002647	Q9UM63	PLAL1_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 1 (PLAGL1), transcript variant 1, mRNA.	182					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		CAGGAAGTCCTTGCATCCTGT	0.557000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		172			7		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10772966	10772966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10772966C>T	uc001mja.3	+	0	156	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	3					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CATCATGTCGCGGGGCTCCAT	0.632000														59			13		0	0	1	0	0
PNLIP	5406	broad.mit.edu	37	10	118307977	118307977	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118307977C>A	uc001lcm.3	+	3	350	c.307C>A	c.(307-309)Ctg>Atg	p.L103M		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	103					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	AGAAAACTGGCTGGCCAATGT	0.433000														181			33		9.17885e-22	1.12858e-21	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46563006	46563006	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46563006G>A	uc010tfw.1	-	7	1177	c.1171C>T	c.(1171-1173)Cat>Tat	p.H391Y	ZC3H13_uc001vas.1_Missense_Mutation_p.H391Y|ZC3H13_uc001vat.1_Missense_Mutation_p.H391Y	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	391	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		GGAGAGCGATGTCTTGGAGGA	0.483000														74			25		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101912242	101912242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101912242G>A	uc010nod.3	+	2	4043	c.3401G>A	c.(3400-3402)aGt>aAt	p.S1134N	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.S1134N|GPRASP1_uc004ejj.4_Missense_Mutation_p.S1134N|GPRASP1_uc004eji.4_Missense_Mutation_p.S1134N|GPRASP1_uc022cbd.1_Missense_Mutation_p.S1134N	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1134	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCCAAGGAGAGTACAGAGCCT	0.433000														155			37		0	0	1	0	0
MT1M	4499	broad.mit.edu	37	16	56666669	56666669	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56666669C>T	uc002ejn.3	+	0	136	c.26C>T	c.(25-27)aCt>aTt	p.T9I	MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1JP_uc002ejo.1_5'Flank	NM_176870	NP_789846	Q8N339	MT1M_HUMAN	Homo sapiens metallothionein 1M (MT1M), mRNA.	9	Beta.						metal ion binding			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						TCCTGCACCACTGGTAAGAGA	0.592000														211			31		0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60053435	60053435	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:60053435A>G	uc003jsi.4	-	7	737	c.537T>C	c.(535-537)gcT>gcC	p.A179A	ELOVL7_uc011cqo.2_Silent_p.A92A|ELOVL7_uc010iwk.3_Silent_p.A179A|ELOVL7_uc003jsj.4_Silent_p.A166A	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	179					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				CTACATGTACAGCTGTATTTA	0.383000														54			18		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938081	67938081	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938081G>C	uc004dxb.3	+	5	1539	c.1325G>C	c.(1324-1326)aGc>aCc	p.S442T	STARD8_uc004dxa.3_Missense_Mutation_p.S362T|STARD8_uc004dxc.4_Missense_Mutation_p.S362T	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	362					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	p.S442C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GAGGCTCTCAGCCAGATGGAG	0.602000														93			5		0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73108697	73108697	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73108697T>C	uc003pga.3	+	32	4838	c.4761T>C	c.(4759-4761)tgT>tgC	p.C1587C	RIMS1_uc011dyb.2_Silent_p.C984C|RIMS1_uc003pgc.3_Silent_p.C1002C|RIMS1_uc010kaq.3_Silent_p.C907C|RIMS1_uc011dyc.2_Silent_p.C712C|RIMS1_uc010kar.3_Silent_p.C655C|RIMS1_uc011dyd.2_Silent_p.C721C|RIMS1_uc003pge.3_Silent_p.C627C|RIMS1_uc003pgf.3_Silent_p.C587C|RIMS1_uc003pgi.3_Silent_p.C403C|RIMS1_uc003pgg.3_Silent_p.C483C|RIMS1_uc003pgh.3_Silent_p.C454C|RIMS1_uc003pgd.3_Silent_p.C653C|RIMS1_uc011dye.2_Silent_p.C393C|RIMS1_uc011dyf.2_Silent_p.C211C|RIMS1_uc011dyg.2_Silent_p.C114C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1587	C2 2.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGGGCCTGTATAGCCAAGA	0.333000														46			16		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7531999	7531999	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7531999C>A	uc002mgi.3	+	14	2693	c.2440C>A	c.(2440-2442)Ctt>Att	p.L814I	ARHGEF18_uc010xjm.1_Missense_Mutation_p.L656I|ARHGEF18_uc002mgh.3_Missense_Mutation_p.L656I|ARHGEF18_uc002mgj.1_Missense_Mutation_p.L457I	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	814					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCTCCTGAACCTTCAGGTACA	0.677000														200			41		4.17593e-13	4.85447e-13	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38781010	38781010	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781010C>T	uc003ciq.3	-	13	2276	c.2276G>A	c.(2275-2277)cGc>cAc	p.R759H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	759					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CATTACCAAGCGGAAGCTCCG	0.547000														73			13		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9538260	9538260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9538260G>A	uc003wss.3	+	4	1062	c.1057G>A	c.(1057-1059)Gct>Act	p.A353T	TNKS_uc011kwv.1_Missense_Mutation_p.A353T|TNKS_uc011kww.2_Missense_Mutation_p.A116T	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	353					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAACTAATGGCTTTACTGAC	0.299000														99			17		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37486234	37486234	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37486234C>T	uc021ppc.1	+	27	2571	c.2472C>T	c.(2470-2472)ttC>ttT	p.F824F	ANKRD30A_uc001iza.1_Silent_p.F824F	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	880						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F824F(2)|p.A823T(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328000														171			17		0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25761000	25761000	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25761000T>C	uc003cdl.3	-	11	2024	c.1916A>G	c.(1915-1917)gAc>gGc	p.D639G	NGLY1_uc010hfg.3_Missense_Mutation_p.D621G|NGLY1_uc003cdm.3_3'UTR|NGLY1_uc011awo.2_Missense_Mutation_p.D597G|NGLY1_uc003cdk.3_Non-coding_Transcript	NM_018297	NP_060767	Q96IV0	NGLY1_HUMAN	Homo sapiens N-glycanase 1 (NGLY1), transcript variant 1, mRNA.	639	PAW.				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTCTTCATGGTCATTTAAGCT	0.373000														86			18		0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58292383	58292383	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58292383A>C	uc002ene.3	+	3	581	c.502A>C	c.(502-504)Act>Cct	p.T168P	CCDC113_uc010vid.2_Missense_Mutation_p.T114P	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	168						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TATTTTGGCCACTCAGAAAGT	0.413000														85			22		0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171305026	171305026	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171305026A>G	uc003mbm.1	-	6	1268	c.897T>C	c.(895-897)gaT>gaC	p.D299D	FBXW11_uc011dey.1_Silent_p.D267D|FBXW11_uc003mbl.1_Silent_p.D286D|FBXW11_uc003mbn.1_Silent_p.D265D	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	299					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCACCGTAGAATCTGAAGAGC	0.458000														64			16		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134073691	134073691	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134073691C>T	uc001qhd.1	-	10	1932	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	442					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCACCAGGAACTTATGCTTTA	0.468000														128			33		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279186	47279186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279186G>A	uc001cqn.4	+	4	612	c.528G>A	c.(526-528)aaG>aaA	p.K176K	CYP4B1_uc009vyl.1_Silent_p.K13K|CYP4B1_uc001cqm.4_Silent_p.K176K|CYP4B1_uc009vym.3_Silent_p.K161K|CYP4B1_uc010omk.2_Silent_p.K13K|CYP4B1_uc010oml.1_Silent_p.K13K	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	176					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GGGAGGGTAAGTCCTTTGACA	0.567000														86			12		0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54753662	54753662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54753662C>T	uc002rxu.3	+	1	356	c.107C>T	c.(106-108)tCt>tTt	p.S36F	SPTBN1_uc002rxv.1_Missense_Mutation_p.S36F|SPTBN1_uc021vhp.1_Non-coding_Transcript|RPL23AP32_uc010yot.1_5'Flank	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	36	Actin-binding.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAGAACAGCTCTGCGCGGCTT	0.537000														134			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140798805	140798805	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140798805A>G	uc003lkn.2	+	0	1546	c.1379A>G	c.(1378-1380)cAc>cGc	p.H460R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.H460R|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	462	Cadherin 5.				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)			TACCTGGTCCACGTGCCAGAA	0.572000														175			35		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7506797	7506797	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7506797G>T	uc002mgi.3	+	3	909	c.656_splice	c.e3-1	p.D219_splice	ARHGEF18_uc010xjm.1_Splice_Site_p.D61_splice|ARHGEF18_uc002mgh.3_Splice_Site_p.D61_splice	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	219					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCTTCCCTCAGATCCCTACAC	0.617000														475			21		5.26018e-13	6.10868e-13	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111097131	111097131	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111097131G>T	uc004epl.1	-	3	2023	c.1104C>A	c.(1102-1104)atC>atA	p.I368I	TRPC5_uc004epm.1_Silent_p.I368I	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	368					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTGTGTGGCAGATAAACTTGA	0.493000														125			14		2.32078e-09	2.57599e-09	1	1	0
BEND6	221336	broad.mit.edu	37	6	56857269	56857269	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56857269G>A	uc010kab.3	+	2	800	c.214G>A	c.(214-216)Gcc>Acc	p.A72T	BEND6_uc003pdg.2_Non-coding_Transcript	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	72								p.C71C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AGAATTGTGCGCCAAAATAAA	0.413000														168			33		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8215310	8215310	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215310G>A	uc002glc.3	+	2	107	c.-48_splice	c.e2-1		ARHGEF15_uc002glb.2_Splice_Site|ARHGEF15_uc002gld.3_Splice_Site|ARHGEF15_uc010vuw.2_Splice_Site	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.						negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCTCCTCAGGGGATGACTCCA	0.592000														145			8		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89349137	89349137	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89349137C>T	uc002fmx.1	-	8	4274	c.3813G>A	c.(3811-3813)tcG>tcA	p.S1271S	ANKRD11_uc002fmy.1_Silent_p.S1271S|ANKRD11_uc002fnc.1_Silent_p.S1271S|ANKRD11_uc002fnb.1_Silent_p.S1228S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1271	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGGCACTTCTCGAGGACTTCC	0.488000														150			27		0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31434492	31434492	+	Silent	SNP	G	A	A	rs139716054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31434492G>A	uc002wyh.3	+	5	805	c.666G>A	c.(664-666)cgG>cgA	p.R222R		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	222	APC-binding.|DCTN1-binding.|EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						GAAAGCTACGGAACATTGAAT	0.423000														220			49		0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101456141	101456141	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101456141G>A	uc001dts.2	-	7	828	c.681C>T	c.(679-681)gcC>gcT	p.A227A	DPH5_uc001dtr.2_Silent_p.A226A|DPH5_uc001dtt.2_Silent_p.A227A|DPH5_uc001dtw.2_Non-coding_Transcript|DPH5_uc001dty.2_Silent_p.A106A|DPH5_uc001dtq.2_Non-coding_Transcript|DPH5_uc001dtz.2_Non-coding_Transcript	NM_015958	NP_057042	Q9H2P9	DPH5_HUMAN	Homo sapiens DPH5 homolog (S. cerevisiae) (DPH5), transcript variant 2, mRNA.	227					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCTGGTCGTCGGCTCCAACCC	0.448000														90			23		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70170552	70170552	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70170552G>A	uc001opo.3	+	2	524	c.309G>A	c.(307-309)caG>caA	p.Q103Q	PPFIA1_uc001opn.2_Silent_p.Q103Q|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	103					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGGGAACAGCTCCTTGAAA	0.423000														243			14		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75105841	75105841	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75105841G>A	uc002snd.3	+	8	2984	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	353	Regulatory.		R -> C.		apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CGGAAGGCCCGTGAGGTCCTG	0.632000														28			11		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48717612	48717612	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717612C>T	uc003cun.3	-	5	1237	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	NCKIPSD_uc003cum.3_Silent_p.R374R	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	381					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCACCTCCAGCCTCTGCTGGT	0.622000														91			22		0	0	1	0	0
ABL2	27	broad.mit.edu	37	1	179078040	179078040	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179078040A>T	uc001gmj.4	-	11	2649	c.2362T>A	c.(2362-2364)Tcc>Acc	p.S788T	ABL2_uc010pnf.2_Intron|ABL2_uc010png.2_Intron|ABL2_uc010pnh.2_Missense_Mutation_p.S767T|ABL2_uc001gmg.4_Intron|ABL2_uc001gmi.4_Missense_Mutation_p.S773T|ABL2_uc010pne.2_Intron	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	788	F-actin-binding (By similarity).				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGCCCTGAGGACATGGAAGAT	0.507000			T	ETV6	AML									183			51		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118263583	118263583	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118263583G>A	uc001psw.3	+	18	3182	c.3047G>A	c.(3046-3048)aGa>aAa	p.R1016K	UBE4A_uc001psv.3_Missense_Mutation_p.R1023K	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	1016	U-box.				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)		ACTGTGGATAGATCCACCATT	0.458000														156			31		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881907	18881907	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881907C>T	uc002guw.3	-	4	1239	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	358										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCAATCTCGTCGACGCTCTTG	0.627000														201			33		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38227628	38227628	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38227628C>T	uc009vvi.3	-	2	385	c.299G>A	c.(298-300)cGc>cAc	p.R100H	EPHA10_uc001cbw.4_Missense_Mutation_p.R100H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	100						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACGAAGATGCGCTGCCCGCG	0.607000														307			39		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56155658	56155658	+	Silent	SNP	T	C	C	rs67178207		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56155658T>C	uc003jqw.4	+	2	1251	c.750T>C	c.(748-750)agT>agC	p.S250S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	250					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GCCGACGCAGTCCTTCTCCTG	0.498000														55			12		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78316861	78316861	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78316861C>T	uc002bcy.4	-	5	1107	c.1107G>A	c.(1105-1107)caG>caA	p.Q369Q	TBC1D2B_uc010bla.3_Silent_p.Q369Q	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	369						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GGACTGTCTGCTGGAGCAGTC	0.517000														83			20		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35547879	35547879	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35547879G>T	uc002xgh.2	-	6	940	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	247	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATTCCATTAGAATTAATAAG	0.383000														40			7		0.000157383	0.000162836	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155408590	155408590	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155408590A>C	uc009wqq.3	-	4	5836	c.5356T>G	c.(5356-5358)Ttg>Gtg	p.L1786V	ASH1L_uc001fkt.3_Missense_Mutation_p.L1786V	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1786	Ser-rich.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTGCTTGTCAACTTTTCAGAT	0.473000														219			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412905	179412905	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179412905G>A	uc021vsy.1	-	287	85969	c.85744C>T	c.(85744-85746)Ctt>Ttt	p.L28582F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L22277F|TTN_uc021vta.1_Missense_Mutation_p.L22210F|TTN_uc021vtb.1_Missense_Mutation_p.L22085F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29509							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)			CTCATTTCAAGCAGGTAGCCA	0.463000														294			93		0	0	1	0	0
C7orf10	79783	broad.mit.edu	37	7	40498706	40498706	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:40498706G>T	uc022acd.1	+	10	940	c.916G>T	c.(916-918)Gat>Tat	p.D306Y	C7orf10_uc003thn.2_Missense_Mutation_p.D306Y|C7orf10_uc003tho.2_Missense_Mutation_p.D258Y	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	306							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						TTAGATCTTGGATTTGCCTGA	0.353000														29			7		8.12818e-05	8.44191e-05	1	1	0
CDH18	1016	broad.mit.edu	37	5	19544089	19544089	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19544089C>T	uc003jgd.3	-	8	1813	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N	CDH18_uc011cnm.2_Missense_Mutation_p.D427N|CDH18_uc003jgc.3_Missense_Mutation_p.D427N|CDH18_uc021xwu.1_Missense_Mutation_p.D427N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	427	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATCTGTCGTCTTCAACATTG	0.348000														47			14		0	0	1	0	0
SLC35A4	113829	broad.mit.edu	37	5	139947164	139947164	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947164G>A	uc003lgg.1	+	2	1138	c.410G>A	c.(409-411)cGc>cAc	p.R137H	APBB3_uc003lgd.1_5'Flank|APBB3_uc010jfp.1_5'Flank|APBB3_uc011czi.1_5'Flank|APBB3_uc003lge.1_5'Flank|APBB3_uc021yeg.1_5'Flank|APBB3_uc021yeh.1_5'Flank|APBB3_uc003lgf.1_5'Flank|APBB3_uc010jfr.1_5'Flank|SLC35A4_uc003lgh.1_Missense_Mutation_p.R137H|SLC35A4_uc021yei.1_Missense_Mutation_p.R137H	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	137	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity	p.R137L(2)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCGGCACCGCCTCTCTGTG	0.592000														142			39		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734988	31734988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734988G>A	uc011dog.2	-	12	2067	c.1829C>T	c.(1828-1830)cCc>cTc	p.P610L	VWA7_uc003nxd.2_Missense_Mutation_p.P285L	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	610						extracellular region											ATCCTCCATGGGGATCCCAAA	0.562000														25			8		0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1346849	1346849	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1346849G>A	uc003gde.4	+	4	1029	c.582G>A	c.(580-582)acG>acA	p.T194T		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	194																	CCTGCTTGACGGAGGTAGAGA	0.532000														122			32		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55912364	55912364	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55912364C>T	uc002adg.3	-	19	3347	c.3299G>A	c.(3298-3300)aGc>aAc	p.S1100N		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	1100					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TCTTGAGAAGCTGGTTGTCTG	0.498000														151			28		0	0	1	0	0
REG1A	5967	broad.mit.edu	37	2	79350005	79350005	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79350005C>A	uc010ysd.2	+	3	427	c.360C>A	c.(358-360)tcC>tcA	p.S120S	REG1A_uc002snz.3_Silent_p.S120S	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	120	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.S120F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CCCTGGTCTCCTACAAGTCCT	0.567000														252			41		5.20006e-24	6.45208e-24	1	1	0
PRRC1	133619	broad.mit.edu	37	5	126887437	126887437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126887437G>A	uc003kuk.3	+	8	1347	c.1167G>A	c.(1165-1167)tgG>tgA	p.W389*	PRRC1_uc003kuj.4_3'UTR|PRRC1_uc021ydd.1_5'Flank	NM_130809	NP_570721	Q96M27	PRRC1_HUMAN	Homo sapiens proline-rich coiled-coil 1 (PRRC1), mRNA.	389						Golgi apparatus				endometrium(1)|large_intestine(1)|lung(4)	6		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113)		ATCTGAGGTGGTCAGGCCTTT	0.428000														69			19		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4714099	4714099	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4714099C>T	uc009zeh.1	+	10	1188	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	DYRK4_uc001qmx.3_Silent_p.S267S|DYRK4_uc001qmy.2_Silent_p.S267S|DYRK4_uc021qtq.1_Silent_p.S121S|DYRK4_uc001qmz.2_5'UTR|DYRK4_uc001qna.2_5'UTR|DYRK4_uc010ser.2_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	267	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ACATCCAAAGCCGGTTCTACC	0.562000											OREG0021598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		130			8		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100117559	100117559	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100117559C>T	uc004egj.3	-	5	699	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	NOX1_uc004egl.4_Missense_Mutation_p.V165M|NOX1_uc010nne.3_Missense_Mutation_p.V128M	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	165	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						ACATACTCCACTGTCTGTGAA	0.473000														302			85		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31205600	31205600	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31205600G>T	uc001utc.2	+	3	1289	c.857G>T	c.(856-858)aGt>aTt	p.S286I	USPL1_uc001utb.3_Missense_Mutation_p.S105I|USPL1_uc001utd.2_Intron|USPL1_uc001ute.1_5'Flank	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	286					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGTCAATTGAGTGGTGTTAAA	0.388000														86			16		4.7546e-09	5.25358e-09	1	1	0
SLC25A30	253512	broad.mit.edu	37	13	45976427	45976427	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976427T>C	uc001vag.3	-	5	609	c.472A>G	c.(472-474)Aca>Gca	p.T158A	SLC25A30_uc010tfs.2_Missense_Mutation_p.T83A|SLC25A30_uc010tft.2_Missense_Mutation_p.T107A|SLC25A30_uc001vah.3_Missense_Mutation_p.T83A|SLC25A30_uc001vaf.3_Missense_Mutation_p.T14A	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	Homo sapiens solute carrier family 25, member 30 (SLC25A30), nuclear gene encoding mitochondrial protein, mRNA.	158					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		AGTCCTCTTGTCCCCTCTTGC	0.368000														146			16		0	0	1	0	0
SPAG8	26206	broad.mit.edu	37	9	35811564	35811564	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35811564C>T	uc003zye.3	-	1	594	c.479G>A	c.(478-480)gGc>gAc	p.G160D	SPAG8_uc003zyg.3_Missense_Mutation_p.G160D	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	160	Gly-rich.					acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			aggaccagagccagagccaga	0.602000														76			15		0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135287592	135287592	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135287592T>G	uc003qez.2	-	16	2125	c.1918A>C	c.(1918-1920)Aat>Cat	p.N640H	HBS1L_uc003qey.2_Missense_Mutation_p.N476H|HBS1L_uc011ecy.1_Missense_Mutation_p.N364H|HBS1L_uc011ecz.1_Missense_Mutation_p.N476H|HBS1L_uc011eda.1_Missense_Mutation_p.N598H	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	640					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		ACCAATGCATTCTGGCCTTTA	0.328000														105			22		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701985	181701985	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181701985C>T	uc009wxt.3	+	19	2958	c.2763C>T	c.(2761-2763)agC>agT	p.S921S	CACNA1E_uc001gow.3_Silent_p.S921S|CACNA1E_uc009wxs.3_Silent_p.S902S|CACNA1E_uc001gox.1_Silent_p.S147S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	921					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R920S(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AACGGCGCAGCCGGCATCGCC	0.647000														296			33		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424913	47424913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424913G>A	uc010ekv.3	+	0	2981	c.2981G>A	c.(2980-2982)aGc>aAc	p.S994N		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	994					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CCATCTTACAGCCTGTTTCGA	0.493000														116			9		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84628811	84628811	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84628811C>T	uc003uic.3	-	16	2319	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	SEMA3D_uc010led.3_Missense_Mutation_p.R760Q|SEMA3D_uc003uib.3_Missense_Mutation_p.R399Q	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	760	Arg/Lys-rich (basic).				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	p.R760Q(2)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TCTTCGATTTCGTTTCTTCTT	0.453000														117			30		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57132156	57132156	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57132156C>T	uc003dil.3	-	11	1664	c.1575G>A	c.(1573-1575)acG>acA	p.T525T	IL17RD_uc003dik.3_Silent_p.T501T|IL17RD_uc010hna.3_Silent_p.T381T|IL17RD_uc011bex.1_Silent_p.T381T	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	525						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TGCCCTGTCGCGTGTGCTGCC	0.572000														74			17		0	0	1	0	0
ZNF500	26048	broad.mit.edu	37	16	4815977	4815977	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4815977C>T	uc002cxp.1	-	1	250	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF500_uc002cxo.1_5'UTR|ZNF500_uc010uxt.1_Missense_Mutation_p.M1I	NM_021646	NP_067678	O60304	ZN500_HUMAN	Homo sapiens zinc finger protein 500 (ZNF500), mRNA.	1					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGACAGTGGCCATTGCTTCCG	0.547000														139			36		0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122743779	122743779	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743779G>T	uc003iec.4	-	1	541	c.236C>A	c.(235-237)cCt>cAt	p.P79H		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	79					Ras protein signal transduction|cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATCATTTACAGGAAGATCCTT	0.413000														129			30		1.06801e-11	1.22009e-11	1	1	0
NRP2	8828	broad.mit.edu	37	2	206590675	206590675	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206590675C>T	uc002vaw.3	+	5	1650	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	NRP2_uc002vat.3_Missense_Mutation_p.R287W|NRP2_uc002vau.3_Missense_Mutation_p.R287W|NRP2_uc002vav.3_Missense_Mutation_p.R287W|NRP2_uc002vax.3_Missense_Mutation_p.R287W|NRP2_uc002vay.3_Missense_Mutation_p.R287W|NRP2_uc010fud.3_Missense_Mutation_p.R287W	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	287	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGAGTCTGGCCGGATTGCTAA	0.547000														131			10		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39440588	39440588	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39440588C>T	uc010fal.2	-	2	316	c.316G>A	c.(316-318)Gta>Ata	p.V106I	CDKL4_uc002rrm.3_Missense_Mutation_p.V106I	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	106	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGCCATAATACGCTTTTGATC	0.338000														117			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336699	126336699	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336699T>C	uc003ifj.4	+	4	6581	c.6581T>C	c.(6580-6582)gTt>gCt	p.V2194A	FAT4_uc011cgp.2_Missense_Mutation_p.V492A	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2194	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGGCATTGTTAATGGTAAT	0.418000														179			45		0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566168	5566168	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5566168C>T	uc010qzh.2	-	0	586	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGCACAGGCGAGCTGGGCA	0.483000														109			18		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108593877	108593877	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108593877C>A	uc001pkm.3	+	12	1718	c.1653C>A	c.(1651-1653)taC>taA	p.Y551*	DDX10_uc001pkl.1_Nonsense_Mutation_p.Y551*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	551							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTAGAGCCTACTTCAATGAGA	0.438000			T	NUP98	AML*									58			16		6.31663e-08	6.86475e-08	1	1	0
TCF25	22980	broad.mit.edu	37	16	89977554	89977554	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89977554C>A	uc002fpb.2	+	17	2021	c.1939C>A	c.(1939-1941)Ctg>Atg	p.L647M	TCF25_uc002fpc.2_Missense_Mutation_p.A451D|BC160930_uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	647					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		CAGGCTGATGCTGGCTGTGCG	0.667000														133			59		3.31993e-32	4.19028e-32	1	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24200923	24200923	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24200923A>C	uc001uov.2	+	4	641	c.437A>C	c.(436-438)gAa>gCa	p.E146A	TNFRSF19_uc001uot.3_Missense_Mutation_p.E146A|TNFRSF19_uc010tcu.2_Missense_Mutation_p.E14A|TNFRSF19_uc001uow.3_Missense_Mutation_p.E146A	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	146					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		CCTCCTTACGAACCGCACTGT	0.468000														84			14		0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152415580	152415580	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152415580G>T	uc010kio.3	+	7	1654	c.1436G>T	c.(1435-1437)cGa>cTa	p.R479L	ESR1_uc003qom.4_Missense_Mutation_p.R477L|ESR1_uc010kin.3_Missense_Mutation_p.R477L|ESR1_uc010kip.3_Missense_Mutation_p.R476L|ESR1_uc003qon.4_Missense_Mutation_p.R477L|ESR1_uc010kir.3_Missense_Mutation_p.R216L|ESR1_uc003qoo.4_Missense_Mutation_p.R477L|ESR1_uc010kiq.3_Missense_Mutation_p.R75L|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Missense_Mutation_p.R62L|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Missense_Mutation_p.R192L|ESR1_uc021zha.1_Missense_Mutation_p.R20L|ESR1_uc011eex.2_Intron|ESR1_uc011eey.2_Intron	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	477	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CATATCCACCGAGTCCTGGAC	0.557000														170			32		7.63505e-26	9.52716e-26	1	1	0
UFSP2	55325	broad.mit.edu	37	4	186329545	186329545	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329545C>A	uc003ixo.2	-	7	993	c.876G>T	c.(874-876)caG>caT	p.Q292H	UFSP2_uc003ixq.2_Missense_Mutation_p.Q182H	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	292						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTATGCGATCCTGCATATAAT	0.398000														106			25		8.24728e-16	9.79314e-16	1	1	0
ATP12A	479	broad.mit.edu	37	13	25264578	25264578	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264578G>A	uc010aaa.3	+	5	982	c.649G>A	c.(649-651)Gac>Aac	p.D217N	ATP12A_uc001upp.3_Missense_Mutation_p.D217N	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	217					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GATCCCTGCAGACATCAGGGT	0.577000														153			32		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429164	57429164	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429164G>T	uc002xzw.3	+	0	1129	c.844G>T	c.(844-846)Ggc>Tgc	p.G282C	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGGCGCCATCGGCAGCCCATC	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				78			13		4.3838e-07	4.70703e-07	1	1	0
LONP1	9361	broad.mit.edu	37	19	5693652	5693652	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5693652C>A	uc002mcx.3	-	15	2482	c.2449G>T	c.(2449-2451)Gcc>Tcc	p.A817S	LONP1_uc002mcy.3_Missense_Mutation_p.A753S|LONP1_uc010duh.3_Missense_Mutation_p.A558S|LONP1_uc010dui.3_Missense_Mutation_p.A801S|LONP1_uc002mcz.3_Missense_Mutation_p.A621S	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	817					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGTGTAGGCTATGCGGGCG	0.637000														152			49		1.02687e-29	1.2918e-29	1	1	0
THBS2	7058	broad.mit.edu	37	6	169625342	169625342	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169625342C>T	uc003qwt.3	-	17	2919	c.2671G>A	c.(2671-2673)Ggc>Agc	p.G891S		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	891					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		tcgccctggccgtctctgtca	0.582000														54			9		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18849783	18849783	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18849783T>G	uc002dfm.3	-	43	7453	c.7090A>C	c.(7090-7092)Agc>Cgc	p.S2364R	SMG1_uc010bwb.3_Missense_Mutation_p.S2224R|SMG1_uc010bwa.3_Missense_Mutation_p.S1095R	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2364	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTCTAAGGCTTTTACCTTGA	0.343000														79			23		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57499295	57499295	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57499295C>T	uc009zpg.3	-	7	917	c.915G>A	c.(913-915)tcG>tcA	p.S305S	STAT6_uc009zpe.3_Silent_p.S256S|STAT6_uc001sna.3_Silent_p.S256S|STAT6_uc009zpf.3_Silent_p.S256S|STAT6_uc010srb.2_Silent_p.S146S|STAT6_uc010src.2_Silent_p.S146S|STAT6_uc010srd.2_Silent_p.S146S	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	256					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.A304T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCCAGTCAGCGATGCCCGGG	0.612000														80			13		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22039067	22039067	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22039067G>A	uc010gtj.1	+	9	695	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_uc002zvh.4_Silent_p.P193P|PPIL2_uc002zvi.4_Silent_p.P193P|PPIL2_uc002zvg.4_Silent_p.P193P|PPIL2_uc011aij.2_Silent_p.P172P|PPIL2_uc002zvk.4_5'Flank	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	193					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547000														88			16		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35583857	35583857	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35583857G>T	uc003xjr.2	+	9	1819	c.1491G>T	c.(1489-1491)gaG>gaT	p.E497D	UNC5D_uc003xjs.2_Missense_Mutation_p.E492D|UNC5D_uc003xju.2_Missense_Mutation_p.E73D|UNC5D_uc003xjt.1_Missense_Mutation_p.E255D	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	497					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GAGTGTCTGAGAGAGCTGAGT	0.473000														85			12		5.50884e-06	5.8131e-06	1	1	0
DLG2	1740	broad.mit.edu	37	11	84634141	84634141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:84634141C>T	uc001paj.2	-	0	325	c.22G>A	c.(22-24)Gca>Aca	p.A8T	DLG2_uc010rsz.1_Missense_Mutation_p.A8T|DLG2_uc010rta.1_Missense_Mutation_p.A8T|DLG2_uc001pak.2_Intron|DLG2_uc001pal.1_Missense_Mutation_p.A8T	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	8						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTCCGGAGTGCACAGTAACAT	0.493000														93			13		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130269465	130269465	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269465G>A	uc004brh.3	-	13	2102	c.1900C>T	c.(1900-1902)Ccc>Tcc	p.P634S	FAM129B_uc004bri.3_Missense_Mutation_p.P621S|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	634							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCCTCAAAGGGCAGCCCCACC	0.687000														63			7		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219494329	219494329	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219494329G>A	uc021vwx.1	+	7	1401	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	PLCD4_uc002vik.1_3'UTR|PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	354	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GACACACCCTGACCTCCCGCA	0.602000														85			6		0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564175	97564175	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97564175A>G	uc001drv.3	-	20	2773	c.2636T>C	c.(2635-2637)tTt>tCt	p.F879S		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	879					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATAAGGTCCAAAACTTGGCAG	0.323000														57			7		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988836	17988836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988836C>T	uc002nhr.4	+	6	1250	c.903C>T	c.(901-903)atC>atT	p.I301I		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	301					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GCTGTGGCATCGTCATGTTTG	0.627000														118			10		0	0	1	0	0
CHPF	79586	broad.mit.edu	37	2	220404532	220404532	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220404532G>T	uc002vmc.4	-	3	2128	c.1901C>A	c.(1900-1902)tCc>tAc	p.S634Y	CHPF_uc010zlh.2_Missense_Mutation_p.S472Y	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	634						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCCAGCCGGAGATGGCATG	0.652000														368			27		4.72057e-08	5.14176e-08	1	1	0
GPRC6A	222545	broad.mit.edu	37	6	117121752	117121752	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117121752G>A	uc003pxj.1	-	3	1565	c.1543C>T	c.(1543-1545)Ctt>Ttt	p.L515F	GPRC6A_uc003pxk.1_Missense_Mutation_p.L340F|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	515					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GTTACCTTAAGATTCCTGAAC	0.428000														89			25		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46332593	46332593	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46332593G>A	uc021qil.1	+	4	1041	c.606G>A	c.(604-606)gtG>gtA	p.V202V	CREB3L1_uc021qik.1_Silent_p.V202V	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	202					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.V202L(1)	FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		AGGACCTGGTGCAGATGCCTC	0.637000			T	FUS	myxofibrosarcoma									223			47		0	0	1	0	0
NDUFV1	4723	broad.mit.edu	37	11	67376922	67376922	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67376922G>T	uc001omj.2	+	4	480	c.327_splice	c.e4-1	p.R109_splice	NDUFV1_uc010rpv.1_Splice_Site_p.R8_splice|NDUFV1_uc001omk.4_Splice_Site_p.R100_splice|NDUFV1_uc001oml.2_Splice_Site_p.R102_splice|NDUFV1_uc009yrz.1_Splice_Site_p.R8_splice|NDUFV1_uc010rpw.1_5'Flank	NM_007103	NP_009034	P49821	NDUV1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa (NDUFV1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	109					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GGCCCCTGCAGGCCCAAGTAT	0.622000														241			44		8.01111e-26	9.99355e-26	1	1	0
ATP13A4	84239	broad.mit.edu	37	3	193166103	193166103	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166103C>A	uc003ftd.3	-	17	2152	c.2044G>T	c.(2044-2046)Gac>Tac	p.D682Y	ATP13A4_uc003fte.1_Missense_Mutation_p.D682Y|ATP13A4_uc011bsr.1_Missense_Mutation_p.D153Y|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	682					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AATATCAGGTCTGATTCTACC	0.413000														99			6		2.7689e-08	3.02839e-08	1	1	0
RND1	27289	broad.mit.edu	37	12	49255902	49255902	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49255902C>A	uc001rsn.3	-	3	312	c.209_splice	c.e3-1	p.G70_splice		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	70					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						TAGGGAGATCCTGGTGTAGGC	0.522000														63			16		0.000308642	0.000318063	1	1	0
ATR	545	broad.mit.edu	37	3	142186836	142186836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142186836C>T	uc003eux.4	-	38	6749	c.6627G>A	c.(6625-6627)gaG>gaA	p.E2209E	ATR_uc003euy.1_Silent_p.E95E	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2209					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAACAAACTTCTCTAAGGATT	0.353000								Other conserved DNA damage response genes						92			6		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57577893	57577893	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577893C>A	uc001snd.3	+	36	6421	c.5955C>A	c.(5953-5955)ggC>ggA	p.G1985G		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1985					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGACCAGGGCTTTGATGTCA	0.612000														77			16		3.32936e-07	3.57961e-07	1	1	0
COG1	9382	broad.mit.edu	37	17	71196797	71196797	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71196797A>T	uc002jjg.3	+	5	1199	c.1163A>T	c.(1162-1164)gAg>gTg	p.E388V	COG1_uc002jjf.1_Missense_Mutation_p.E388V|COG1_uc002jjh.3_Missense_Mutation_p.E388V	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	388					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GCCATGTGGGAGTTACTTACC	0.507000														132			40		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181620541	181620541	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181620541T>A	uc009wxt.3	+	6	1214	c.1019T>A	c.(1018-1020)tTc>tAc	p.F340Y	CACNA1E_uc001gow.3_Missense_Mutation_p.F340Y|CACNA1E_uc009wxs.3_Missense_Mutation_p.F340Y|CACNA1E_uc009wxr.3_Missense_Mutation_p.F247Y	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	340					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTGGATCCTTCTTTGTTCTC	0.438000														130			20		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169343747	169343747	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169343747G>A	uc021xuh.1	-	14	2282	c.2172C>T	c.(2170-2172)ggC>ggT	p.G724G	DDX60L_uc003irq.4_Silent_p.G724G|DDX60L_uc003irr.1_Silent_p.G724G|DDX60L_uc003irs.1_Silent_p.G451G	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	724							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TCAAGTAATGGCCCATGTATT	0.358000														32			10		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30065561	30065561	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30065561C>A	uc001zcr.3	-	3	560	c.85_splice	c.e3-1	p.A29_splice	TJP1_uc010azl.3_Splice_Site_p.A17_splice|TJP1_uc001zcq.3_Splice_Site_p.A33_splice|TJP1_uc001zcs.3_Splice_Site_p.A29_splice	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	29	PDZ 1.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATCCAGGAGCCTAAAGTAAAA	0.318000														121			18		1.67942e-08	1.84125e-08	1	1	0
CHD7	55636	broad.mit.edu	37	8	61729060	61729060	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61729060G>A	uc003xue.3	+	8	3105	c.2613_splice	c.e8+1	p.E871_splice	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Splice_Site	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	871					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	p.556_871dup(1)		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)			TCCTTTCAGAGGTACGACATA	0.323000														11			3		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141359166	141359166	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141359166T>C	uc002tvj.1	-	41	7814	c.6842A>G	c.(6841-6843)gAt>gGt	p.D2281G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2281					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.W2280S(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)		GTACAGTGTATCCCAGGCTCT	0.453000										TSP Lung(27;0.18)				68			8		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42583614	42583614	+	Missense_Mutation	SNP	C	T	T	rs148844955		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42583614C>T	uc002osk.4	+	1	1361	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	ZNF574_uc002osm.4_Missense_Mutation_p.R286W|ZNF574_uc021uva.1_Missense_Mutation_p.R286W	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T375A(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AGCCATTGGGCGGGATCGCCG	0.637000														240			53		0	0	1	0	0
ANGPTL6	83854	broad.mit.edu	37	19	10205540	10205540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10205540C>T	uc002mmy.1	-	2	849	c.657G>A	c.(655-657)atG>atA	p.M219I	ANGPTL6_uc002mmx.2_Missense_Mutation_p.M219I	NM_031917	NP_114123	Q8NI99	ANGL6_HUMAN	Homo sapiens angiopoietin-like 6 (ANGPTL6), mRNA.	219					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			CTGGGTCCAGCATCCTACTGG	0.647000														133			30		0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512538	71512538	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71512538C>T	uc001dfn.3	-	0	954	c.723G>A	c.(721-723)gcG>gcA	p.A241A	PTGER3_uc001dfg.1_Silent_p.A241A|PTGER3_uc001dfh.1_Non-coding_Transcript|PTGER3_uc001dfi.1_Non-coding_Transcript|PTGER3_uc001dfk.1_Silent_p.A241A|PTGER3_uc001dfj.1_Non-coding_Transcript|PTGER3_uc001dfl.1_Silent_p.A241A|PTGER3_uc009wbm.1_Silent_p.A241A|PTGER3_uc001dfm.1_Non-coding_Transcript|PTGER3_uc009wbn.2_Silent_p.A241A|PTGER3_uc009wbo.3_Silent_p.A241A|PTGER3_uc001dfo.3_Silent_p.A241A|PTGER3_uc001dfp.1_Silent_p.A241A|PTGER3_uc001dfq.3_Silent_p.A241A|ZRANB2-AS1_uc001dfr.3_Non-coding_Transcript	NM_198716	NP_942009	P43115	PE2R3_HUMAN	Homo sapiens prostaglandin E receptor 3 (subtype EP3) (PTGER3), transcript variant 6, mRNA.	241					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	TGACTGTCAGCGCCAAGAGCC	0.632000														250			33		0	0	1	0	0
C6orf47	57827	broad.mit.edu	37	6	31626860	31626860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31626860C>T	uc003nvm.1	-	0	1690	c.865G>A	c.(865-867)Gac>Aac	p.D289N		NM_021184	NP_067007	O95873	CF047_HUMAN	Homo sapiens chromosome 6 open reading frame 47 (C6orf47), mRNA.	289										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TTTCCCGGGTCTCCCCTCTGC	0.602000														328			13		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947670	35947670	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35947670C>T	uc003anx.3	+	2	597	c.392C>T	c.(391-393)gCg>gTg	p.A131V	RASD2_uc003any.3_Missense_Mutation_p.A131V	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	131					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AAGGAGGCGGCGGAGCTGCCC	0.622000														165			19		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110897320	110897320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110897320C>T	uc003hzy.4	+	12	2434	c.1982C>T	c.(1981-1983)gCc>gTc	p.A661V	EGF_uc011cfu.2_Missense_Mutation_p.A619V|EGF_uc011cfv.2_Missense_Mutation_p.A661V	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	661					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGTGCGATGCCAAGCAGTCT	0.478000														89			20		0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58059348	58059348	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58059348T>G	uc002qpe.1	-	1	141	c.141A>C	c.(139-141)caA>caC	p.Q47H	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGTATGAACTTGTGCTCTGT	0.448000														192			42		0	0	1	0	0
SLC7A5P2	387254	broad.mit.edu	37	16	21531542	21531542	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21531542T>A	uc002djd.3	-	0	224	c.145A>T	c.(145-147)Aac>Tac	p.N49Y	LOC23117_uc021tel.1_Intron|LOC100271836_uc002dja.3_Non-coding_Transcript					Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 pseudogene 2 (SLC7A5P2), non-coding RNA.																		AGCGTGATGTTCCCCTGCAGG	0.701000														114			9		0	0	1	0	0
FCGR1A	2209	broad.mit.edu	37	1	149759933	149759933	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149759933C>A	uc001esp.4	+	3	369	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	107	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTGGCTACTACTGCAGGTCTC	0.483000														184			9		4.36969e-10	4.89342e-10	1	1	0
BRCA1	672	broad.mit.edu	37	17	41246608	41246608	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41246608C>T	uc002icq.3	-	9	1172	c.940G>A	c.(940-942)Gca>Aca	p.A314T	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A243T|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A267T|BRCA1_uc002ict.3_Missense_Mutation_p.A314T|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A314T|BRCA1_uc002ide.1_Missense_Mutation_p.A145T|BRCA1_uc010cyy.1_Missense_Mutation_p.A314T|BRCA1_uc010whs.1_Missense_Mutation_p.A314T|BRCA1_uc010cyz.2_Missense_Mutation_p.A267T|BRCA1_uc010cza.2_Missense_Mutation_p.A288T|BRCA1_uc010wht.1_Missense_Mutation_p.A18T	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	314					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGCTCCTTGCTAAGCCAGGC	0.418000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				154			26		0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363311	22363311	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22363311C>T	uc001mqk.3	+	1	737	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	108					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G108G(2)|p.G107W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						ACCGCGGGGGCAAGGTCATCA	0.632000														131			31		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486321	125486321	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486321T>A	uc004bmu.1	+	0	53	c.53T>A	c.(52-54)cTc>cAc	p.L18H		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CTCCTGGGCCTCTCTTCCAAC	0.502000														256			50		0	0	1	0	0
LOC285359	285359	broad.mit.edu	37	3	101432000	101432000	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101432000C>T	uc003dvj.3	+	0		c.723C>T								Homo sapiens phosducin-like 3 pseudogene (LOC285359), non-coding RNA.																		GCACTCTGTCCTCATGAGGAG	0.448000														57			13		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970883	101970883	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970883G>T	uc022cbh.1	+	0	1086	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.L362F|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.L362F	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	362						cytoplasm	protein binding										ATACTGCCTTGAAACTCAGGG	0.458000														119			32		6.38683e-12	7.32513e-12	1	1	0
KRTAP10-12	386685	broad.mit.edu	37	21	46117739	46117739	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46117739G>A	uc002zfw.1	+	0	653	c.623G>A	c.(622-624)cGc>cAc	p.R208H	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	208	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCGCCCGCCGCGTGCCCGTC	0.711000														379			45		0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153657450	153657450	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153657450C>A	uc001fcs.4	+	7	1916	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	NPR1_uc010pdz.2_Missense_Mutation_p.L245M|NPR1_uc010pea.2_Missense_Mutation_p.L3M	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	499					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAAGATGCAGCTGGAGAAGGA	0.662000														187			70		4.05715e-38	5.15278e-38	1	1	0
TG	7038	broad.mit.edu	37	8	133919108	133919108	+	Silent	SNP	C	A	A	rs61747463		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133919108C>A	uc003ytw.3	+	16	3851	c.3810C>A	c.(3808-3810)cgC>cgA	p.R1270R	TG_uc010mdw.3_Silent_p.R29R	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1270					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCGGACGCTGGGAGTCAC	0.642000														60			13		1.05317e-09	1.17384e-09	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53855474	53855474	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855474A>C	uc010ydv.1	+	3	1663	c.1546A>C	c.(1546-1548)Att>Ctt	p.I516L	ZNF845_uc010ydw.1_Missense_Mutation_p.I516L	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	516					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATAGGATAATTCATACTGG	0.378000														87			19		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699928	136699928	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136699928G>A	uc003vtf.1	+	3	939	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	CHRM2_uc003vtg.1_Missense_Mutation_p.V106I|CHRM2_uc003vti.1_Missense_Mutation_p.V106I|CHRM2_uc003vtm.1_Missense_Mutation_p.V106I|CHRM2_uc003vtj.1_Missense_Mutation_p.V106I|CHRM2_uc003vtk.1_Missense_Mutation_p.V106I|CHRM2_uc003vtl.1_Missense_Mutation_p.V106I|CHRM2_uc003vtn.1_Missense_Mutation_p.V106I|CHRM2_uc003vto.1_Missense_Mutation_p.V106I|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.V106I	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	106					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GGACTATGTGGTCAGCAATGC	0.478000														208			44		0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38190380	38190380	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38190380A>G	uc002ohc.2	-	4	1248	c.652T>C	c.(652-654)Ttt>Ctt	p.F218L	ZNF607_uc002ohb.2_Missense_Mutation_p.F217L	NM_032689	NP_116078	Q96SK3	ZN607_HUMAN	Homo sapiens zinc finger protein 607 (ZNF607), transcript variant 1, mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CCATAATGAAATCTATGATGT	0.423000														124			32		0	0	1	0	0
CLK3	1198	broad.mit.edu	37	15	74911640	74911640	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74911640C>T	uc010uln.2	+	1	1008	c.547C>T	c.(547-549)Cga>Tga	p.R183*	CLK3_uc002ayg.4_Nonsense_Mutation_p.R35*|CLK3_uc002ayh.4_5'UTR|CLK3_uc010ulm.1_Nonsense_Mutation_p.R183*|CLK3_uc002ayj.4_Nonsense_Mutation_p.R35*|CLK3_uc002ayk.4_5'UTR	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	183	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGGGAGACTGCGATACCCGTC	0.577000														211			39		0	0	1	0	0
TNNI1	7135	broad.mit.edu	37	1	201382201	201382201	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201382201G>A	uc021phe.1	-	4	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*	TNNI1_uc021phd.1_Nonsense_Mutation_p.R59*|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Nonsense_Mutation_p.R59*	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	80					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						ATGTCGTATCGCTCCTCATCC	0.602000														684			107		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124416568	124416568	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124416568C>A	uc001uft.4	+	74	12880	c.12855C>A	c.(12853-12855)atC>atA	p.I4285I	DNAH10_uc001ufu.4_Silent_p.I198I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4285					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCCCTAATATCTGGAGAAGGC	0.478000														111			7		0.00198382	0.00202356	1	1	0
CEP68	23177	broad.mit.edu	37	2	65296585	65296585	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65296585C>T	uc002sdl.4	+	1	221	c.7C>T	c.(7-9)Ctg>Ttg	p.L3L	CEP68_uc002sdj.2_Silent_p.L3L|CEP68_uc010yqb.1_Silent_p.L3L|CEP68_uc002sdk.4_Silent_p.L3L|CEP68_uc010yqc.2_Silent_p.L3L|CEP68_uc010yqd.1_Silent_p.L3L	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	3					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCAATGGCCCTGGGTGAAGA	0.527000														211			28		0	0	1	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219366593	219366593	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:219366593G>T	uc001hlq.4	+	3	402	c.361_splice	c.e3+1	p.G121_splice	LYPLAL1_uc001hlr.4_Splice_Site_p.G105_splice|LYPLAL1_uc001hls.4_Intron|LYPLAL1_uc001hlt.4_Intron|LYPLAL1_uc009xds.3_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.	121						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		GATATTAATAGGTAAGACCTT	0.318000														31			9		1.12685e-05	1.18529e-05	1	1	0
SLC25A2	83884	broad.mit.edu	37	5	140683056	140683056	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140683056G>A	uc003ljf.3	-	0	557	c.377C>T	c.(376-378)cCc>cTc	p.P126L		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	126					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	AAGCTCAGTGGGGCAGAGAGC	0.522000														252			57		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715758	165715758	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715758G>A	uc003qum.4	-	1	89	c.53C>T	c.(52-54)aCg>aTg	p.T18M	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	18								p.T18M(4)|p.T18T(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CACGCCTGGCGTCTCGCAGTG	0.512000														124			32		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561319	44561319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561319G>A	uc003tlb.3	-	11	3001	c.2945C>T	c.(2944-2946)tCg>tTg	p.S982L	NPC1L1_uc011kbw.2_Missense_Mutation_p.S936L|NPC1L1_uc003tlc.3_Missense_Mutation_p.S982L|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	982					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S982L(2)		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)	ACTGACGGTCGAGGGGCAGAA	0.587000														131			29		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118773616	118773616	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118773616G>T	uc001pug.3	-	6	1800	c.835_splice	c.e6-1	p.A279_splice	BCL9L_uc009zal.3_Splice_Site_p.A274_splice	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	279					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CACTTTAGGGGCCTGCAGAAG	0.677000														49			5		4.096e-09	4.53438e-09	1	1	0
TLK2	11011	broad.mit.edu	37	17	60685485	60685485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685485G>A	uc010ddp.3	+	21	2389	c.2121G>A	c.(2119-2121)aaG>aaA	p.K707K	TLK2_uc002izx.4_Silent_p.K533K|TLK2_uc002izz.4_Silent_p.K685K|TLK2_uc002jaa.4_Silent_p.K653K|TLK2_uc010wpd.2_Silent_p.K653K	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	707	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TCCCGCCAAAGCCAGTAGTAA	0.418000														45			10		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171438	77171438	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171438C>T	uc010xfg.2	+	1	1616	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	NFATC1_uc002lnc.1_Missense_Mutation_p.A388V|NFATC1_uc010xff.1_Missense_Mutation_p.A388V|NFATC1_uc002lnd.3_Missense_Mutation_p.A388V|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.A388V|NFATC1_uc010xfi.1_Missense_Mutation_p.A375V|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.A375V|NFATC1_uc002lng.3_Missense_Mutation_p.A375V|NFATC1_uc010xfk.2_Missense_Mutation_p.A375V	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	388					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CAGTACCTGGCGGTGCCGCAG	0.706000														60			17		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297570	197297570	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297570A>C	uc001gtz.3	+	1	298	c.89A>C	c.(88-90)aAc>aCc	p.N30T	CRB1_uc010poz.2_5'UTR|CRB1_uc001gty.2_Missense_Mutation_p.N30T|CRB1_uc009wza.3_Missense_Mutation_p.N30T|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.N30T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	30	EGF-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGCAATAAAAACAACACCAGG	0.313000														55			13		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67022579	67022579	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67022579G>T	uc002jhu.3	-	15	2223	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	ABCA9_uc010dez.3_Missense_Mutation_p.L694M	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	694	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACACTTCAGCTTCCCATTG	0.393000														284			61		4.45325e-31	5.61454e-31	1	1	0
RYR3	6263	broad.mit.edu	37	15	33873841	33873841	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33873841C>A	uc001zhi.3	+	13	1640	c.1570C>A	c.(1570-1572)Ctg>Atg	p.L524M	RYR3_uc010bar.3_Missense_Mutation_p.L524M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	524					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTACAAATTGCTGGGTAAGTA	0.458000														88			18		2.94398e-08	3.21697e-08	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51772901	51772901	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51772901C>T	uc010ufy.2	-	23	6627	c.6402G>A	c.(6400-6402)ttG>ttA	p.L2134L	DMXL2_uc002abd.3_Silent_p.L204L|DMXL2_uc002abf.3_Silent_p.L2134L|DMXL2_uc010bfa.3_Silent_p.L1498L	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2134						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTTGGCCTGCAATCTTCTTC	0.448000														158			44		0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79637483	79637483	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79637483C>T	uc002kbc.4	+	3	533	c.497_splice	c.e3+1	p.A166_splice		NM_199287	NP_954981	Q6PK04	CC137_HUMAN	Homo sapiens coiled-coil domain containing 137 (CCDC137), mRNA.	166										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAAAAAAAGCGTGAGTGGAG	0.597000														47			8		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88702615	88702615	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88702615C>A	uc001kea.3	-	5	2053	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	MMRN2_uc010qmn.2_Missense_Mutation_p.Q285H|MMRN2_uc009xtb.2_Missense_Mutation_p.Q599H	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	642						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TAGCGGCGTCCTGCAGGGCCA	0.741000														27			4		0.00909568	0.00920877	1	1	0
TNIK	23043	broad.mit.edu	37	3	170858289	170858289	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170858289G>A	uc003fhh.2	-	12	1576	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	TNIK_uc003fhi.2_Nonsense_Mutation_p.R411*|TNIK_uc003fhj.2_Nonsense_Mutation_p.R411*|TNIK_uc003fhk.2_Nonsense_Mutation_p.R411*|TNIK_uc003fhl.2_Nonsense_Mutation_p.R411*|TNIK_uc003fhm.2_Nonsense_Mutation_p.R411*|TNIK_uc003fhn.2_Nonsense_Mutation_p.R411*|TNIK_uc003fho.2_Nonsense_Mutation_p.R411*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	411	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCCTTCTCTCGCCTTTGTTGC	0.622000														267			23		0	0	1	0	0
FGFBP2	83888	broad.mit.edu	37	4	15964245	15964245	+	Missense_Mutation	SNP	C	T	T	rs138174664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15964245C>T	uc003gon.3	-	0	615	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	FGFBP2_uc021xmm.1_Missense_Mutation_p.E170K	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	170						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCAGCTCTTCCATCGAGTCC	0.602000														391			26		0	0	1	0	0
APP	351	broad.mit.edu	37	21	27394204	27394204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27394204C>T	uc002ylz.3	-	5	1017	c.817G>A	c.(817-819)Gcc>Acc	p.A273T	APP_uc010glk.3_Missense_Mutation_p.A268T|APP_uc002yma.3_Missense_Mutation_p.A273T|APP_uc011ach.2_Missense_Mutation_p.A217T|APP_uc021whz.1_Missense_Mutation_p.A273T|APP_uc021wia.1_Missense_Mutation_p.A273T|APP_uc002ymb.3_Missense_Mutation_p.A273T|APP_uc010glj.3_Missense_Mutation_p.A217T|APP_uc021wib.1_Missense_Mutation_p.A273T|APP_uc011aci.2_Missense_Mutation_p.A238T|APP_uc011acj.2_Missense_Mutation_p.A273T	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	273					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				gtggtggtggcaatgctggtg	0.537000														58			10		0	0	1	0	0
SGPL1	8879	broad.mit.edu	37	10	72631635	72631635	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72631635T>C	uc001jrm.3	+	10	1173	c.951T>C	c.(949-951)tgT>tgC	p.C317C	SGPL1_uc009xqk.3_Non-coding_Transcript	NM_003901	NP_003892	O95470	SGPL1_HUMAN	Homo sapiens sphingosine-1-phosphate lyase 1 (SGPL1), mRNA.	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423000														151			29		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749345	152749345	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749345C>A	uc021zhb.1	-	34	5194	c.4971G>T	c.(4969-4971)tgG>tgT	p.W1657C	SYNE1_uc003qot.4_Missense_Mutation_p.W1664C|SYNE1_uc003qou.4_Missense_Mutation_p.W1657C|SYNE1_uc010kjb.1_Missense_Mutation_p.W1640C|SYNE1_uc003qow.3_Missense_Mutation_p.W952C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1657					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCACCTCTGCCAGTGGGCCA	0.517000										HNSCC(10;0.0054)				408			72		3.83939e-23	4.7497e-23	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173542452	173542452	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173542452A>C	uc001giz.2	-	8	1338	c.915T>G	c.(913-915)atT>atG	p.I305M	SLC9C2_uc009wwe.2_5'UTR|SLC9C2_uc010pmq.1_Non-coding_Transcript	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	305					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										CAGATGAAAAAATTCTTAAGA	0.264000														37			14		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64962610	64962610	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64962610C>T	uc002ann.3	+	2	1039	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	347						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGACTGCACACGACATGATTG	0.403000														116			20		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86822914	86822914	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822914G>A	uc002blz.1	+	14	2062	c.1982G>A	c.(1981-1983)gGg>gAg	p.G661E	AGBL1_uc002bma.1_Missense_Mutation_p.G392E|AGBL1_uc002bmb.1_Missense_Mutation_p.G355E	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	661					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGCATCTGGGAAGTGCTAC	0.522000														173			49		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129389812	129389812	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129389812G>A	uc021xdy.1	-	3	1306	c.872C>T	c.(871-873)aCt>aTt	p.T291I	TMCC1_uc003emy.4_5'UTR|TMCC1_uc011blc.2_Missense_Mutation_p.T112I|TMCC1_uc010htg.3_Missense_Mutation_p.T177I	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	291						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGGAGGATAGTTTGGGCAGA	0.502000														239			46		0	0	1	0	0
PAICS	10606	broad.mit.edu	37	4	57325556	57325556	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325556T>C	uc010ihd.1	+	8	1214	c.1133T>C	c.(1132-1134)gTa>gCa	p.V378A	PAICS_uc003hbs.1_Missense_Mutation_p.V377A|PAICS_uc011cac.1_Missense_Mutation_p.V377A|PAICS_uc003hbt.1_Missense_Mutation_p.V384A|PAICS_uc003hbu.1_Missense_Mutation_p.V377A	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	377	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TGTTCAACCGTACTTTCTCCA	0.383000														33			7		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296342	47296342	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296342C>A	uc001ner.1	+	2	482	c.291C>A	c.(289-291)ttC>ttA	p.F97L	MADD_uc001neq.2_Missense_Mutation_p.F97L|MADD_uc001nev.1_Missense_Mutation_p.F97L|MADD_uc001nes.1_Missense_Mutation_p.F97L|MADD_uc001net.1_Missense_Mutation_p.F97L|MADD_uc009yln.1_Missense_Mutation_p.F97L|MADD_uc001neu.1_Missense_Mutation_p.F97L|MADD_uc001nez.2_Missense_Mutation_p.F97L|MADD_uc001new.2_Missense_Mutation_p.F97L|MADD_uc001nex.2_Missense_Mutation_p.F97L	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	97	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTAACTTCTACCGCTCCT	0.562000														217			61		1.78197e-24	2.21543e-24	1	1	0
CATSPER1	117144	broad.mit.edu	37	11	65784598	65784598	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65784598T>G	uc001ogt.3	-	10	2387	c.2249A>C	c.(2248-2250)gAg>gCg	p.E750A		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	750					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCTCCTGCTCCACGCTTGC	0.652000														76			7		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133473446	133473446	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133473446G>A	uc003epu.2	+	8	2161	c.433G>A	c.(433-435)Gct>Act	p.A145T	TF_uc011bls.1_Missense_Mutation_p.A145T|TF_uc011blt.2_Missense_Mutation_p.A18T|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.A145T	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	145	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AGGCAGGTCCGCTGGGTGGAA	0.527000														337			86		0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238882	69238882	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69238882A>G	uc002arn.2	+	1	1163	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Intron|NOX5_uc002arp.2_Intron|NOX5_uc010bid.2_Intron	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	337					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTAAAAAATATGTGTAGATC	0.269000														59			14		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62848447	62848447	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62848447G>A	uc002yii.3	+	10	2023	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	MYT1_uc002yih.3_Silent_p.E255E|MYT1_uc002yij.3_Silent_p.E185E	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	553					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGCAGCTCGAGGTCCCTCCAT	0.632000														203			36		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32166826	32166826	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32166826A>C	uc003obb.3	-	23	4551	c.4412T>G	c.(4411-4413)aTc>aGc	p.I1471S	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Missense_Mutation_p.I134S|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1471					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCGACGCCGGATGAGCTGGAG	0.682000														231			18		0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31844161	31844161	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31844161G>T	uc003akz.2	-	12	2024	c.1826C>A	c.(1825-1827)cCc>cAc	p.P609H	EIF4ENIF1_uc003akx.2_Missense_Mutation_p.P264H|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.P288H|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.P609H|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.P434H|EIF4ENIF1_uc003akw.2_Missense_Mutation_p.P98H	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	609						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGGGCTCATGGGTTTGCGCAT	0.532000														204			40		5.44703e-19	6.60141e-19	1	1	0
STIL	6491	broad.mit.edu	37	1	47746463	47746463	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47746463G>T	uc001crd.1	-	11	1822	c.1667C>A	c.(1666-1668)tCc>tAc	p.S556Y	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S509Y|STIL_uc010omo.1_Missense_Mutation_p.S556Y|STIL_uc001crc.1_Missense_Mutation_p.S556Y|STIL_uc001cre.1_Missense_Mutation_p.S556Y|STIL_uc001crf.1_Missense_Mutation_p.S169Y|STIL_uc001crg.1_Missense_Mutation_p.S509Y	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	556					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTAAGTGTGGAGGGTCTTAT	0.408000														162			53		1.86277e-20	2.27517e-20	1	1	0
ADRBK2	157	broad.mit.edu	37	22	26107046	26107046	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26107046C>A	uc003abx.4	+	16	1554	c.1407C>A	c.(1405-1407)ccC>ccA	p.P469P	ADRBK2_uc003abw.2_Silent_p.P356P|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	469	AGC-kinase C-terminal.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	ACCCACCACCCTTGATTCCTC	0.463000														59			4		0.014758	0.0149061	1	1	0
MFSD2B	388931	broad.mit.edu	37	2	24239805	24239805	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239805G>A	uc002reo.2	+	3	452	c.438G>A	c.(436-438)acG>acA	p.T146T	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	146					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TCTGGTACACGACTTTCTACT	0.647000														169			22		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36367610	36367610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36367610C>T	uc001uvf.3	-	15	2234	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Missense_Mutation_p.G344S|DCLK1_uc010teh.2_Missense_Mutation_p.G344S|DCLK1_uc010abk.3_Missense_Mutation_p.G171S	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	651					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTGGGAGGCCATCATCCTGG	0.398000														93			25		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2510961	2510961	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510961C>A	uc002cqh.3	+	3	372	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	C16orf59_uc002cqg.2_5'UTR|C16orf59_uc002cqi.3_5'UTR|C16orf59_uc010uwb.2_5'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	114										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ATTGTCACCTCTTCTGGCACG	0.617000														164			41		2.26627e-22	2.79311e-22	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5415823	5415823	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5415823C>A	uc002kmt.1	-	12	2147	c.2061G>T	c.(2059-2061)gaG>gaT	p.E687D	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	687	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACACCTCTTCCTCTGAACTGT	0.567000														72			28		1.17739e-12	1.36172e-12	1	1	0
MAP6	4135	broad.mit.edu	37	11	75316859	75316859	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75316859G>A	uc001owu.3	-	2	1375	c.1310C>T	c.(1309-1311)gCg>gTg	p.A437V	MAP6_uc001owv.3_Missense_Mutation_p.A437V	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	437						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TTACTCTTTCGCCTCAGCCAG	0.468000														204			39		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32133908	32133908	+	Missense_Mutation	SNP	C	T	T	rs150927474	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32133908C>T	uc001rks.3	+	3	433	c.19C>T	c.(19-21)Cca>Tca	p.P7S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	7										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GAATGAAAAACCAAAGAGTGC	0.368000														74			9		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33117913	33117913	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33117913T>G	uc001muh.3	-	14	1480	c.1314A>C	c.(1312-1314)aaA>aaC	p.K438N	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	438					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						CTCCATATTTTTTTAGCCCCA	0.328000														65			14		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	186997978	186997978	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186997978G>A	uc003iyq.3	+	1	306	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	69					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|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 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATTACCAGCCGCCAACTTCAC	0.443000														111			35		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197071117	197071117	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197071117G>A	uc001gtu.3	-	17	7521	c.7264C>T	c.(7264-7266)Ctg>Ttg	p.L2422L	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Silent_p.L270L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2422	IQ 25.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTCACCAGTAATGATCTA	0.383000														173			35		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16255163	16255163	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16255163C>T	uc001axk.1	+	10	2632	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	SPEN_uc010obp.1_Missense_Mutation_p.R769W	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	810	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ACGCTTAATACGGAAGGAAAA	0.423000														142			10		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49030524	49030524	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49030524C>A	uc001zwz.3	-	26	5248	c.5055G>T	c.(5053-5055)caG>caT	p.Q1685H	CEP152_uc001zwy.3_Missense_Mutation_p.Q1629H	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1629					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTCTTGAAGGCTGCTGACACA	0.373000														95			19		5.03518e-11	5.70985e-11	1	1	0
SENP6	26054	broad.mit.edu	37	6	76423282	76423282	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76423282T>C	uc003pid.4	+	21	3582	c.2963T>C	c.(2962-2964)gTc>gCc	p.V988A	SENP6_uc003pie.4_Missense_Mutation_p.V981A|SENP6_uc010kbf.3_Non-coding_Transcript	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	988	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TCAAATGTTGTCAAAATTTTA	0.328000														93			22		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135518382	135518382	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518382G>T	uc003qfh.3	+	9	1686	c.1487G>T	c.(1486-1488)aGc>aTc	p.S496I	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Missense_Mutation_p.S493I|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Missense_Mutation_p.S480I|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGACTGTAGCTCCTTCATA	0.532000			T	NFIB	adenoid cystic carcinoma									95			16		2.32078e-09	2.57599e-09	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176016537	176016537	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176016537C>T	uc021yie.1	+	23	3400	c.3126C>T	c.(3124-3126)acC>acT	p.T1042T	CDHR2_uc003mem.2_Silent_p.T1042T|CDHR2_uc003men.1_Silent_p.T1042T	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	1042	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGCTCTTCACCGTGGACCAGA	0.652000														132			22		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115814375	115814375	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115814375C>A	uc003krx.4	-	12	1999	c.1290G>T	c.(1288-1290)ggG>ggT	p.G430G	SEMA6A_uc010jck.3_Silent_p.G430G|SEMA6A_uc003krw.4_5'UTR|SEMA6A_uc010jcj.3_Intron	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	430	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TCTGATATGGCCCAGCAGCTG	0.413000														47			6		3.59834e-05	3.75534e-05	1	1	0
MFSD2B	388931	broad.mit.edu	37	2	24239035	24239035	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239035G>A	uc002reo.2	+	2	246	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	78					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GATCCCTGCCGCCCAGGTGTC	0.612000														132			13		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340571	107340571	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107340571C>A	uc003vep.3	+	14	1882	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SLC26A4_uc011kmb.2_Missense_Mutation_p.P140H|SLC26A4_uc011kmc.2_Missense_Mutation_p.P114H|SLC26A4_uc011kmd.2_Missense_Mutation_p.P122H	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	553	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTTTCCAGTCCTATTTTCTAT	0.313000									Pendred syndrome					57			10		6.40141e-05	6.6609e-05	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117302397	117302397	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117302397G>A	uc001prh.1	-	30	5409	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1743					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTTGAGTACCGGTTCCGGGTG	0.602000														242			16		0	0	1	0	0
PDXDC1	23042	broad.mit.edu	37	16	15098085	15098085	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15098085G>A	uc002dda.4	+	4	508	c.284G>A	c.(283-285)gGa>gAa	p.G95E	PDXDC1_uc010uzl.2_Missense_Mutation_p.G80E|PDXDC1_uc010uzm.2_Intron|PDXDC1_uc010bvc.1_Missense_Mutation_p.G36E|PDXDC1_uc002dcz.3_Missense_Mutation_p.G95E|PDXDC1_uc002ddb.4_Missense_Mutation_p.G68E|PDXDC1_uc010uzn.2_Missense_Mutation_p.G67E|PDXDC1_uc002ddc.3_Missense_Mutation_p.G95E	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	95					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GCTTTGTTGGGACATAGTCTG	0.353000														246			17		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511289	169511289	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169511289C>T	uc001ggg.1	-	12	3184	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1013	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCCTCCATCCTGTCTTACTT	0.448000														267			90		0	0	1	0	0
OMP	4975	broad.mit.edu	37	11	76814037	76814037	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76814037C>A	uc010rsk.2	+	0	152	c.152C>A	c.(151-153)tCt>tAt	p.S51Y	CAPN5_uc001oxx.3_Intron|CAPN5_uc009yup.3_Intron|CAPN5_uc009yuq.3_Intron|CAPN5_uc001oxy.3_Intron	NM_006189	NP_006180	P47874	OMP_HUMAN	Homo sapiens olfactory marker protein (OMP), mRNA.	51					sensory perception of smell|synaptic transmission					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCAGCGGAGTCTGTGTACCGC	0.647000														100			38		5.43694e-19	6.59212e-19	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	125834834	125834834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125834834G>A	uc001uhe.1	+	1	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	TMEM132B_uc021rgl.1_Missense_Mutation_p.A187T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532000														323			61		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1502883	1502883	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1502883C>T	uc002clv.2	-	14	1336	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	CLCN7_uc002clw.2_Missense_Mutation_p.R385Q	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	409						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGGCAGGGCCGGTGGATGTA	0.662000														18			7		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595854	52595854	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595854G>A	uc001jjj.3	-	5	772	c.584C>T	c.(583-585)gCg>gTg	p.A195V	A1CF_uc010qho.2_Missense_Mutation_p.A203V|A1CF_uc010qhn.2_Missense_Mutation_p.A203V|A1CF_uc009xov.3_Missense_Mutation_p.A195V|A1CF_uc001jji.3_Missense_Mutation_p.A195V|A1CF_uc001jjh.3_Missense_Mutation_p.A203V	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	195	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.A195V(4)|p.A203V(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTTCCTCCTCGCCATGGCAGC	0.488000														162			14		0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64084809	64084809	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64084809G>A	uc003jtn.1	+	6	850	c.631G>A	c.(631-633)Gct>Act	p.A211T	CWC27_uc003jtl.3_Missense_Mutation_p.A211T|CWC27_uc003jtm.3_Missense_Mutation_p.A211T|CWC27_uc010iwt.1_Missense_Mutation_p.A211T	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	211					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TGGAGAGGAAGCTGAGGAAGA	0.308000														69			14		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60642662	60642662	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60642662G>A	uc021ule.1	+	15	4033	c.3788G>A	c.(3787-3789)gGt>gAt	p.G1263D		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1263	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AAGCTTGGTGGTGCCGCTGTC	0.517000														191			29		0	0	1	0	0
FAM113A	64773	broad.mit.edu	37	20	2820524	2820524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2820524C>T	uc002wgz.1	-	1	532	c.35G>A	c.(34-36)cGc>cAc	p.R12H	FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Missense_Mutation_p.R12H|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	12							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						TCGCAGCGGGCGGCGCGGCTC	0.637000														112			26		0	0	1	0	0
MIR197	406974	broad.mit.edu	37	1	110141551	110141551	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110141551G>T	uc010ovq.1	+	0		c.37G>T								Homo sapiens microRNA 197 (MIR197), microRNA.																		GGAGGTAAGAGCTCTTCACCC	0.552000														133			33		1.62565e-12	1.87665e-12	1	1	0
DICER1	23405	broad.mit.edu	37	14	95572534	95572534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95572534C>T	uc001ydw.2	-	18	3043	c.2831G>A	c.(2830-2832)cGa>cAa	p.R944Q	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_Missense_Mutation_p.R944Q|DICER1_uc001ydv.2_Missense_Mutation_p.R934Q|DICER1_uc001ydx.2_Missense_Mutation_p.R944Q|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_Missense_Mutation_p.R226Q	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	944	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TACATAAAATCGATGAGGCTG	0.308000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					116			15		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192584	66192584	+	Silent	SNP	G	A	A	rs151135507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66192584G>A	uc001ohx.1	+	6	2399	c.2223G>A	c.(2221-2223)tcG>tcA	p.S741S	NPAS4_uc010rpc.1_Silent_p.S531S	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	741					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGCCCCATCGCCTTGCAACA	0.587000														148			41		0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691781	46691781	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691781G>T	uc002inw.3	-	0	521	c.286C>A	c.(286-288)Cta>Ata	p.L96I		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCACCGAATAGGCTCTGGCGT	0.692000														159			33		3.76114e-14	4.41238e-14	1	1	0
CLIP1	6249	broad.mit.edu	37	12	122862247	122862247	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122862247C>T	uc001ucg.2	-	2	501	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	CLIP1_uc001uch.1_Missense_Mutation_p.G116S|CLIP1_uc001uci.1_Missense_Mutation_p.G116S|CLIP1_uc010tae.2_Missense_Mutation_p.G116S	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAAATATGCCCTTTAAAGGT	0.507000														171			50		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135057	8135057	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135057G>T	uc002gkq.4	-	13	2521	c.2462C>A	c.(2461-2463)gCt>gAt	p.A821D	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	821					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGGCCAGGAGCTATGAGTCG	0.532000														132			22		1.87028e-06	1.99088e-06	1	1	0
PLEC	5339	broad.mit.edu	37	8	144991705	144991705	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991705G>A	uc003zaf.1	-	31	12865	c.12695C>T	c.(12694-12696)aCg>aTg	p.T4232M	PLEC_uc003zab.1_Missense_Mutation_p.T4095M|PLEC_uc003zac.1_Missense_Mutation_p.T4099M|PLEC_uc003zad.2_Missense_Mutation_p.T4095M|PLEC_uc003zae.1_Missense_Mutation_p.T4063M|PLEC_uc003zag.1_Missense_Mutation_p.T4073M|PLEC_uc003zah.2_Missense_Mutation_p.T4081M|PLEC_uc003zaj.2_Missense_Mutation_p.T4122M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4232	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTTCTCCTCCGTGTTAGGGTC	0.607000														181			44		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121739544	121739544	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121739544C>T	uc003idn.3	-	4	864	c.614G>A	c.(613-615)gGg>gAg	p.G205E	PRDM5_uc003ido.3_Missense_Mutation_p.G205E|PRDM5_uc010ine.3_Missense_Mutation_p.G205E|PRDM5_uc010inf.3_Missense_Mutation_p.G205E	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	205					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAATTTCTTCCCACAGTTCTT	0.373000														64			13		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677435	677435	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:677435G>A	uc021szt.1	+	6	881	c.659G>A	c.(658-660)aGc>aAc	p.S220N	RAB40C_uc021szu.1_Missense_Mutation_p.S220N|RAB40C_uc021szv.1_Missense_Mutation_p.S220N|RAB40C_uc002chq.3_Missense_Mutation_p.S201N|RAB40C_uc002chr.3_Missense_Mutation_p.S220N|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	220	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				ACCATCAAGAGCCACCTCAAG	0.657000														348			69		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47221507	47221507	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:47221507G>T	uc010fbb.3	+	6	1223	c.855G>T	c.(853-855)aaG>aaT	p.K285N	TTC7A_uc002rvm.3_Missense_Mutation_p.K251N|TTC7A_uc002rvn.1_Missense_Mutation_p.K166N|TTC7A_uc002rvo.3_Missense_Mutation_p.K285N|TTC7A_uc010fbc.3_Intron|TTC7A_uc002rvp.3_Missense_Mutation_p.K166N|TTC7A_uc002rvq.3_Missense_Mutation_p.K25N|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	285							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)			TGGCGGCCAAGCACCTGGCGG	0.617000														404			16		4.7546e-09	5.25358e-09	1	1	0
SHC2	25759	broad.mit.edu	37	19	436418	436418	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:436418T>C	uc002loq.4	-	5	788	c.788A>G	c.(787-789)tAc>tGc	p.Y263C		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	263	PID.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAGGCCACGTAATCCGTCAT	0.716000														120			32		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145156911	145156911	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145156911G>A	uc002tvu.3	-	7	2365	c.1843C>T	c.(1843-1845)Cag>Tag	p.Q615*	ZEB2_uc010zbm.2_Nonsense_Mutation_p.Q591*|ZEB2_uc002tvv.3_Nonsense_Mutation_p.Q609*|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.Q644*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	615						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCATGAGGCTGCAGGACCGCC	0.443000														89			37		0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61902919	61902919	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61902919C>A	uc002jbz.3	-	4	455	c.377G>T	c.(376-378)tGg>tTg	p.W126L	FTSJ3_uc002jca.3_Missense_Mutation_p.W126L|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	126					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						ATCATGGACCCAGCTAGCCCC	0.557000														148			27		7.26314e-15	8.55724e-15	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13720117	13720117	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13720117C>T	uc001rbt.2	-	11	2619	c.2440G>A	c.(2440-2442)Gac>Aac	p.D814N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	814					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTCAATGTCCAGCTGGCTG	0.527000														126			24		0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86346734	86346734	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86346734G>A	uc003pla.2	-	5	1158	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SYNCRIP_uc003pku.3_Missense_Mutation_p.A206V|SYNCRIP_uc003pkv.3_Missense_Mutation_p.A206V|SYNCRIP_uc003pkw.3_Missense_Mutation_p.A206V|SYNCRIP_uc003pkx.3_Missense_Mutation_p.A54V|SYNCRIP_uc003pky.3_Missense_Mutation_p.A108V|SYNCRIP_uc003pkz.2_Missense_Mutation_p.A206V	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	206	RRM 1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	p.A206A(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AGTGACAAACGCATAACCTCT	0.393000														122			7		0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35740347	35740347	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740347C>T	uc003jjo.3	+	22	3419	c.3308C>T	c.(3307-3309)gCt>gTt	p.A1103V	SPEF2_uc003jjp.1_Missense_Mutation_p.A589V	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1103					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAAACAAAGGCTGAACTACAT	0.448000														168			24		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474288	119474288	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119474288G>A	uc001ehl.1	-	1	370	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W		NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	125						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		TCATGGAACCGCTTCCAGAGG	0.507000														70			12		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885464	24885464	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24885464C>T	uc001wpf.4	+	8	4827	c.4509C>T	c.(4507-4509)ggC>ggT	p.G1503G		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1503					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AACTGTCTGGCTCCTCACCGT	0.552000														64			15		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71831325	71831325	+	Missense_Mutation	SNP	C	T	T	rs138241615	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71831325C>T	uc004ahe.3	+	2	503	c.185C>T	c.(184-186)aCg>aTg	p.T62M	TJP2_uc011lrs.2_Missense_Mutation_p.T39M|TJP2_uc004ahb.1_Missense_Mutation_p.T39M|TJP2_uc011lrt.1_Missense_Mutation_p.T39M|TJP2_uc004ahd.3_Missense_Mutation_p.T62M|TJP2_uc004ahf.3_Missense_Mutation_p.T62M|TJP2_uc011lru.2_Missense_Mutation_p.T66M|TJP2_uc011lrv.2_Missense_Mutation_p.T93M	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	62	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AATGGAGAAACGTCAATTGTC	0.512000														115			16		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490923	157490923	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157490923G>A	uc009wsm.3	-	10	2557	c.2399C>T	c.(2398-2400)tCt>tTt	p.S800F	FCRL5_uc001fqu.3_Missense_Mutation_p.S800F	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	800	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.P799S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTCCTCCAGAGGGGGACGA	0.577000														227			39		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34181856	34181856	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34181856G>T	uc001mvl.2	-	11	2867	c.2442C>A	c.(2440-2442)tgC>tgA	p.C814*		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	628							DNA binding	p.V813V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCTGCCATAGCAGTGGGTGA	0.642000														88			16		0.00498961	0.00506793	1	1	0
SHC4	399694	broad.mit.edu	37	15	49135605	49135605	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49135605C>T	uc001zxb.1	-	10	1912	c.1483_splice	c.e10+1	p.K495_splice	SHC4_uc010uey.1_Splice_Site_p.K252_splice|SHC4_uc010uez.1_Splice_Site_p.K209_splice	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	495	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TAGCTACTTACTTCCGCAGTG	0.458000														220			46		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913859	156913859	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156913859G>T	uc001fqo.3	-	30	4023	c.2983C>A	c.(2983-2985)Ctg>Atg	p.L995M	ARHGEF11_uc010phu.2_Missense_Mutation_p.L411M|ARHGEF11_uc001fqn.3_Missense_Mutation_p.L1035M	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	995	PH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTCTGTAGCAGCACTAGGAGG	0.562000														151			26		6.32553e-13	7.33687e-13	1	1	0
AGMO	392636	broad.mit.edu	37	7	15599824	15599824	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:15599824C>A	uc003stb.1	-	1	369	c.199G>T	c.(199-201)Ggt>Tgt	p.G67C		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	67					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						TCCAGGCGACCTGGTGGCTTT	0.438000														101			23		1.50039e-11	1.71053e-11	1	1	0
PAN2	9924	broad.mit.edu	37	12	56712063	56712063	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56712063C>A	uc001skx.3	-	24	3909	c.3532G>T	c.(3532-3534)Gac>Tac	p.D1178Y	CNPY2_uc001sku.2_5'Flank|CNPY2_uc001skv.3_5'Flank|PAN2_uc001skw.3_Missense_Mutation_p.D326Y|PAN2_uc001sky.3_Missense_Mutation_p.D1174Y|PAN2_uc001skz.3_Missense_Mutation_p.D1177Y	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	1178					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACCTTCCAGTCCATCTTTCTG	0.488000														219			36		2.09667e-21	2.57328e-21	1	1	0
TTN	7273	broad.mit.edu	37	2	179478614	179478614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179478614C>T	uc021vsy.1	-	211	41917	c.41692G>A	c.(41692-41694)Gca>Aca	p.A13898T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A7593T|TTN_uc021vta.1_Missense_Mutation_p.A7526T|TTN_uc021vtb.1_Missense_Mutation_p.A7401T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14825							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)			AGAGTCACTGCGTCTTTAGTG	0.428000														175			59		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219576	42219576	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42219576G>A	uc002orl.3	+	3	832	c.711G>A	c.(709-711)ccG>ccA	p.P237P	CEACAM5_uc010ehz.1_3'UTR|CEACAM5_uc002orj.1_Silent_p.P237P	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	237	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGATGGCCCGGATGCCCCCA	0.507000														98			23		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74497138	74497138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74497138C>T	uc003php.3	+	20	2950	c.2519C>T	c.(2518-2520)aCt>aTt	p.T840I	CD109_uc003phq.3_Missense_Mutation_p.T840I|CD109_uc010kba.3_Missense_Mutation_p.T763I	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	840						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTTCACCCACTGCTTCTGAT	0.423000														110			17		0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139168262	139168262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168262C>T	uc003vvb.3	-	0	196	c.127G>A	c.(127-129)Ggt>Agt	p.G43S	KLRG2_uc010lnc.3_Missense_Mutation_p.G43S	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	43	Pro-rich.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTTTCGGGACCTTCAGGTTGT	0.716000														109			8		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90741870	90741870	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90741870A>G	uc003uky.2	+	12	1390	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	CDK14_uc003ukz.1_Missense_Mutation_p.N372D|CDK14_uc010les.1_Missense_Mutation_p.N344D|CDK14_uc011khl.1_Missense_Mutation_p.N261D	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	390	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAGCTATGTGAACCATGCAGA	0.443000														234			48		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39851741	39851741	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39851741C>T	uc003oow.3	+	14	1988	c.1849C>T	c.(1849-1851)Cgt>Tgt	p.R617C	DAAM2_uc003oox.3_Missense_Mutation_p.R617C|AX747174_uc003ooz.1_Non-coding_Transcript	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	617	FH2.		R -> H (in dbSNP:rs34699846).		actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					ATTTTAGGAGCGTGTCCCTGG	0.493000														30			3		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090390	238090390	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090390C>T	uc010pyc.2	+	11		c.1896C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		AGATCTGGGACCACACCTTCT	0.597000														106			32		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42340139	42340139	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42340139G>A	uc002xlb.1	+	10	1832	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P	MYBL2_uc010zwj.1_Silent_p.P515P	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CACAGACCCCGCACCTGGAGG	0.627000														45			9		0	0	1	0	0
AADACL2	344752	broad.mit.edu	37	3	151458616	151458616	+	Silent	SNP	G	A	A	rs144315490		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151458616G>A	uc003ezc.3	+	1	441	c.321G>A	c.(319-321)gtG>gtA	p.V107V	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Intron	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	107						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GGCGAGCTGTGATATATTTTC	0.353000														82			24		0	0	1	0	0
PEX12	5193	broad.mit.edu	37	17	33904391	33904391	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33904391A>G	uc002hjp.3	-	1	962	c.346T>C	c.(346-348)Tct>Cct	p.S116P		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	116					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AACATAATAGATTTCCAAAGC	0.433000														312			20		0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100103350	100103350	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100103350T>A	uc003dtw.3	-	3	1157	c.708A>T	c.(706-708)ggA>ggT	p.G236G		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	236					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTCTCTTTTCCAAGGAGTT	0.358000														62			16		0	0	1	0	0
OSBPL8	114882	broad.mit.edu	37	12	76749729	76749729	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76749729G>T	uc001sye.1	-	23	3090	c.2610C>A	c.(2608-2610)gaC>gaA	p.D870E	OSBPL8_uc001syf.1_Missense_Mutation_p.D828E|OSBPL8_uc001syg.1_Missense_Mutation_p.D828E	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	870					lipid transport		lipid binding	p.D870E(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TGATGAAGTAGTCTTTTTGTT	0.328000														49			5		0.000602214	0.000618135	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135593823	135593823	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135593823A>G	uc004ezw.3	+	9	2341	c.1919A>G	c.(1918-1920)gAt>gGt	p.D640G	HTATSF1_uc004ezx.3_Missense_Mutation_p.D640G	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	640	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTATTTGATGATGAGTCTGAT	0.393000														122			31		0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72890250	72890250	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:72890250C>T	uc003dpf.3	-	3	539	c.432G>A	c.(430-432)ccG>ccA	p.P144P	SHQ1_uc010hod.3_Silent_p.P55P	NM_018130	NP_060600	Q6PI26	SHQ1_HUMAN	Homo sapiens SHQ1 homolog (S. cerevisiae) (SHQ1), mRNA.	144					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		AGTGGCACTGCGGATTCAAAG	0.423000														164			40		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109746472	109746472	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109746472C>T	uc004bcz.3	+	9	7127	c.6838C>T	c.(6838-6840)Cgt>Tgt	p.R2280C	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R2189C|ZNF462_uc004bda.3_Missense_Mutation_p.R2188C|ZNF462_uc011lvz.2_Missense_Mutation_p.R237C|AK097706_uc004bdc.1_Intron	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2280					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R2280C(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACAGAAGAGCGTGTTGTCCC	0.418000														108			14		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906811	164906811	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906811C>T	uc003fej.4	-	1	2252	c.1808G>A	c.(1807-1809)cGc>cAc	p.R603H	SLITRK3_uc003fek.3_Missense_Mutation_p.R603H|SLITRK3_uc021xgy.1_Missense_Mutation_p.R603H	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	603	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTCAATAGTGCGCACATCACG	0.547000										HNSCC(40;0.11)				84			16		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125434989	125434989	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125434989G>A	uc001ugy.3	-	22	3190	c.3091C>T	c.(3091-3093)Cgg>Tgg	p.R1031W	DHX37_uc001ugz.1_Missense_Mutation_p.R118W	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.G1030W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CACAGCACCCGCCCCCGCTCG	0.657000														64			9		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16863183	16863183	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16863183G>T	uc010rcu.1	-	8	798	c.783C>A	c.(781-783)taC>taA	p.Y261*	PLEKHA7_uc001mmo.3_Nonsense_Mutation_p.Y261*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	261	PH.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			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						CGGCACTGAAGTAGTAGGTCC	0.577000														142			37		4.62619e-21	5.66726e-21	1	1	0
BACE1	23621	broad.mit.edu	37	11	117166061	117166061	+	Missense_Mutation	SNP	G	A	A	rs17857093		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117166061G>A	uc001pqz.3	-	2	814	c.353C>T	c.(352-354)tCc>tTc	p.S118F	BACE1_uc001pqw.3_Missense_Mutation_p.S118F|BACE1_uc001pqx.3_Missense_Mutation_p.S118F|BACE1_uc001pqy.3_Missense_Mutation_p.S118F|BACE1_uc001pra.1_Missense_Mutation_p.S118F|BACE1_uc010rxg.2_Missense_Mutation_p.S18F|BACE1_uc010rxh.2_Missense_Mutation_p.S18F	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	118					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GTATGTGCTGGACCTGTGGAA	0.537000														77			15		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328744	80328744	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80328744C>A	uc003hlu.3	-	0	629	c.611G>T	c.(610-612)aGg>aTg	p.R204M		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	204					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATTGTCCTACTTGCATT	0.388000														143			21		3.51602e-12	4.04451e-12	1	1	0
DGKB	1607	broad.mit.edu	37	7	14880885	14880885	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:14880885T>G	uc003ssz.3	-	0	191	c.4A>C	c.(4-6)Aca>Cca	p.T2P	DGKB_uc011jxt.2_Missense_Mutation_p.T2P|DGKB_uc003sta.3_Missense_Mutation_p.T2P|DGKB_uc011jxu.2_Missense_Mutation_p.T2P|DGKB_uc011jxv.1_Missense_Mutation_p.T2P	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	2					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TCCTGGTTTGTCATGGTGGTG	0.408000														41			10		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012798	40012798	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40012798T>C	uc001rmb.2	-	0	1046	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	207	ABC transmembrane type-1.|Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AAGAGATTGGTCAGGGTTTGC	0.413000														148			38		0	0	1	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560502	161560502	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161560502T>C	uc003qtr.1	-	7	1221	c.994A>G	c.(994-996)Agc>Ggc	p.S332G	AGPAT4_uc003qts.1_Missense_Mutation_p.S192G|AGPAT4_uc011egb.1_Missense_Mutation_p.S170G	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	332					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GAAGACCCGCTCCTGATCATG	0.632000														364			66		0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77166902	77166902	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77166902G>A	uc003ugh.2	+	0	130	c.39G>A	c.(37-39)agG>agA	p.R13R	PTPN12_uc011kgp.1_5'Flank|PTPN12_uc011kgq.1_5'Flank	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	13						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCATCCAGAGGGTCCAGGCCA	0.667000														33			9		0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472759	67472759	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67472759G>A	uc010vjo.1	-	7	1054	c.954C>T	c.(952-954)ctC>ctT	p.L318L	ATP6V0D1_uc002ete.1_Silent_p.L277L|ATP6V0D1_uc010vjn.1_Silent_p.L200L	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	277					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		CACCCTCGAAGAGCAGCTTGT	0.602000														272			57		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38308394	38308394	+	Missense_Mutation	SNP	G	A	A	rs114708609	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308394G>A	uc003aui.3	+	2	507	c.232G>A	c.(232-234)Gct>Act	p.A78T		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	78	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.A78T(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GGGGATCCCCGCTCTCCTGGA	0.592000														136			24		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25095498	25095498	+	Missense_Mutation	SNP	G	T	T	rs114534287	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25095498G>T	uc010ykm.2	-	1	965	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	ADCY3_uc002rfs.4_Missense_Mutation_p.L256M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	256					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CGGGCCTCCAGGAAGGCCTTG	0.632000														330			77		5.44642e-36	6.90352e-36	1	1	0
LEF1	51176	broad.mit.edu	37	4	109010379	109010379	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109010379G>A	uc003hyt.2	-	3	1638	c.449C>T	c.(448-450)gCg>gTg	p.A150V	LEF1_uc011cfj.1_Missense_Mutation_p.A35V|LEF1_uc011cfk.2_Missense_Mutation_p.A82V|LEF1_uc003hyu.2_Missense_Mutation_p.A150V|LEF1_uc003hyv.2_Missense_Mutation_p.A150V|LEF1_uc010imb.2_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	150	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		AGGATGGACCGCATGGGATGG	0.493000														133			28		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287292	29287292	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287292A>G	uc001usj.3	-	2	1127	c.585T>C	c.(583-585)ggT>ggC	p.G195G	SLC46A3_uc001usg.3_Silent_p.G120G|SLC46A3_uc001usi.3_Silent_p.G195G|SLC46A3_uc001ush.3_Silent_p.G195G|SLC46A3_uc001usk.3_Silent_p.G120G	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	195					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		ACCACTCAAAACCTAGCTCTC	0.348000														52			17		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38937111	38937111	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38937111G>T	uc002oit.3	+	8	762	c.632_splice	c.e8-1	p.G211_splice	RYR1_uc002oiu.3_Splice_Site_p.G211_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	211	MIR 3.				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)	CTCCTCTCCAGGCTTCGTGAC	0.602000														88			23		2.21704e-12	2.55528e-12	1	1	0
SACS	26278	broad.mit.edu	37	13	23910147	23910147	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910147C>A	uc001uon.2	-	9	8457	c.7868G>T	c.(7867-7869)gGa>gTa	p.G2623V	SACS_uc001uoo.2_Missense_Mutation_p.G2476V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2623					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAATCCTATTCCATACTGTCC	0.388000														103			23		2.70639e-06	2.8733e-06	1	1	0
STAM	8027	broad.mit.edu	37	10	17730057	17730057	+	Missense_Mutation	SNP	C	T	T	rs142836471		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17730057C>T	uc001ipj.2	+	4	544	c.329C>T	c.(328-330)gCt>gTt	p.A110V	STAM_uc010qcf.2_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	110	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAATTAAAGGCTCTTATGGTT	0.323000														107			17		0	0	1	0	0
DAPP1	27071	broad.mit.edu	37	4	100761522	100761522	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100761522T>A	uc003hvf.4	+	2	391	c.301T>A	c.(301-303)Tct>Act	p.S101T	DAPP1_uc011cek.2_Missense_Mutation_p.S101T|DAPP1_uc010ilh.3_Missense_Mutation_p.S101T	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN	Homo sapiens dual adaptor of phosphotyrosine and 3-phosphoinositides (DAPP1), mRNA.	101	SH2.				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TGAATTCTCATCTTTGAAGGA	0.333000														35			12		0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315123	70315123	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315123T>G	uc002sgf.3	+	0	539	c.248T>G	c.(247-249)aTc>aGc	p.I83S	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	83					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						GAGGAAGATATCAACAGCTCC	0.592000														339			119		0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48221197	48221197	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48221197C>T	uc002eff.1	-	19	3198	c.2848G>A	c.(2848-2850)Gcc>Acc	p.A950T	ABCC11_uc002efg.1_Missense_Mutation_p.A950T|ABCC11_uc002efh.1_Missense_Mutation_p.A950T|ABCC11_uc010vgk.1_Non-coding_Transcript|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	950	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A950A(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)				AACAGGACGGCGATCACCATT	0.463000														120			22		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431887	66431887	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66431887A>G	uc002eom.4	+	8	1519	c.1363A>G	c.(1363-1365)Acc>Gcc	p.T455A		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	455	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CCCTGCAGGAACCCCCACAGG	0.542000														193			27		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1222152	1222152	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1222152A>G	uc001adt.1	+	7	1142	c.916A>G	c.(916-918)Agt>Ggt	p.S306G	SCNN1D_uc001adu.1_Missense_Mutation_p.S142G|SCNN1D_uc001adw.2_Missense_Mutation_p.S208G|SCNN1D_uc001adv.2_Missense_Mutation_p.S142G|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		TCCCAGGCCGAGTCCGGTCCT	0.657000														89			22		0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42940355	42940355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42940355G>A	uc003xps.3	+	8	1118	c.1070G>A	c.(1069-1071)aGa>aAa	p.R357K	FNTA_uc003xpt.3_Missense_Mutation_p.R266K|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	357					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GAATATTGGAGATACATTGGA	0.318000														53			11		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42183581	42183581	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42183581G>A	uc003xow.2	+	19	2266	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	IKBKB_uc003xox.2_Missense_Mutation_p.A415T|IKBKB_uc010lxj.2_Missense_Mutation_p.A471T|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.A692T|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.A635T|IKBKB_uc022auj.1_Missense_Mutation_p.A19T	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	694					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GCCCTCCACGGCCTCCAACAG	0.597000														116			24		0	0	1	0	0
ARHGAP1	392	broad.mit.edu	37	11	46717607	46717607	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46717607G>A	uc001ndd.3	-	1	120	c.51C>T	c.(49-51)agC>agT	p.S17S	ARHGAP1_uc009yle.1_Silent_p.S17S|ARHGAP1_uc009ylf.1_Silent_p.S17S	NM_004308	NP_004299	Q07960	RHG01_HUMAN	Homo sapiens Rho GTPase activating protein 1 (ARHGAP1), mRNA.	17					Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		TCAGAGCCTCGCTGGTGTCAT	0.567000														36			9		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15253611	15253611	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15253611G>A	uc003bzn.3	+	2	373	c.103_splice	c.e2-1	p.E35_splice		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	35					proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TCATTTTTAGGAAGCTGCACA	0.323000														44			4		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806982	48806982	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806982C>T	uc002pir.2	-	7	1485	c.802G>A	c.(802-804)Gag>Aag	p.E268K	CCDC114_uc002piq.2_Missense_Mutation_p.E77K|CCDC114_uc002pio.3_Missense_Mutation_p.E305K|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.E305K|CCDC114_uc002piu.1_Missense_Mutation_p.E305K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	268										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGGGCGTCCTCGTAGCAAAGC	0.632000														226			56		0	0	1	0	0
CA9	768	broad.mit.edu	37	9	35675756	35675756	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35675756A>G	uc003zxo.4	+	3	476	c.434_splice	c.e3-2	p.G145_splice	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	145	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCACCCCAGGCGACCCGC	0.706000														105			6		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144917575	144917575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144917575C>T	uc021ouh.1	-	11	1831	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R510H|PDE4DIP_uc001elx.4_Missense_Mutation_p.R576H|PDE4DIP_uc001emd.2_Missense_Mutation_p.R510H|PDE4DIP_uc001emc.2_Missense_Mutation_p.R510H|PDE4DIP_uc001emb.1_Missense_Mutation_p.R673H|PDE4DIP_uc001eme.1_Missense_Mutation_p.R39H	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	510					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.R510H(2)|p.R673H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACAGCAAGACGAAGCTGGCG	0.448000			T	PDGFRB	MPD									570			23		0	0	1	0	0
DDOST	1650	broad.mit.edu	37	1	20987419	20987419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20987419C>A	uc001bdo.1	-	1	414	c.271G>T	c.(271-273)Gaa>Taa	p.E91*	DDOST_uc010odd.1_5'UTR|DDOST_uc010ode.1_Intron	NM_005216	NP_005207	P39656	OST48_HUMAN	Homo sapiens dolichyl-diphosphooligosaccharide--protein glycosyltransferase (DDOST), mRNA.	91					T cell activation|innate immune response|post-translational protein modification|response to cytokine stimulus	integral to membrane|microsome|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|skin(1)	13		all_lung(284;2.98e-05)|Lung NSC(340;3.25e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000141)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00046)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGAGGAATTCCCCATACTTT	0.512000														72			10		0.000442599	0.000455268	1	1	0
TSSC1	7260	broad.mit.edu	37	2	3261074	3261074	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3261074C>A	uc002qxj.2	-	3	605	c.412G>T	c.(412-414)Gcc>Tcc	p.A138S	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	138							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		TCCTACCAGGCCATGTTGCCA	0.557000														88			26		1.5548e-18	1.87917e-18	1	1	0
CDC37	11140	broad.mit.edu	37	19	10505909	10505909	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10505909C>A	uc002mof.1	-	3	714	c.598G>T	c.(598-600)Gag>Tag	p.E200*		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	200					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCACCTCCTCCACCTCTAGG	0.567000														407			32		1.61788e-16	1.92999e-16	1	1	0
TMPO	7112	broad.mit.edu	37	12	98927591	98927591	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:98927591A>G	uc001tfh.2	+	3	1851	c.1556A>G	c.(1555-1557)aAa>aGa	p.K519R	TMPO_uc001tfi.2_Intron|TMPO_uc001tfl.3_Intron|TMPO_uc001tfj.3_Intron|TMPO_uc001tfk.3_Intron	NM_003276	NP_003267	P42167	LAP2B_HUMAN	Homo sapiens thymopoietin (TMPO), transcript variant 1, mRNA.	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTGGCATGCAAATATCCAGTT	0.413000														92			31		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57333086	57333086	+	Missense_Mutation	SNP	G	A	A	rs139872811		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57333086G>A	uc002qnu.2	-	3	953	c.602C>T	c.(601-603)gCg>gTg	p.A201V	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.A76V|PEG3_uc010etp.2_Missense_Mutation_p.A76V|PEG3_uc010ygs.1_Missense_Mutation_p.A76V|PEG3_uc002qnq.2_Missense_Mutation_p.A76V|PEG3_uc002qnt.2_Missense_Mutation_p.A202V|PEG3_uc002qnv.2_Missense_Mutation_p.A201V|PEG3_uc002qnw.2_Missense_Mutation_p.A76V|PEG3_uc002qnx.2_Missense_Mutation_p.A75V|PEG3_uc010etr.2_Missense_Mutation_p.A201V	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	201					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A201V(3)|p.A76V(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTTGTTTTCGCCACCACAGG	0.532000														199			49		0	0	1	0	0
NR2F2	7026	broad.mit.edu	37	15	96875553	96875553	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:96875553G>T	uc010uri.2	+	0	1443	c.219G>T	c.(217-219)caG>caT	p.Q73H	NR2F2_uc002btp.3_Intron|NR2F2_uc010urj.2_5'Flank|MIR1469_uc021swi.1_5'Flank|NR2F2_uc010urk.2_5'Flank	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	73	Poly-Gln.				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AGCAGCAGCAGCAGCAACACA	0.697000														29			5		0.000602214	0.000618135	1	1	0
USP17L2	377630	broad.mit.edu	37	8	11994754	11994754	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994754C>T	uc003wvc.1	-	0	1516	c.1516G>A	c.(1516-1518)Gct>Act	p.A506T	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	506					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TGCAGAGAAGCGAGGGTGCCA	0.547000														216			11		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125437016	125437016	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125437016G>A	uc001ugy.3	-	20	2895	c.2796C>T	c.(2794-2796)ggC>ggT	p.G932G	DHX37_uc001ugz.1_Silent_p.G19G	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	932							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GGTCCCCCAGGCCTGCCGTCA	0.672000														74			8		0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99161198	99161198	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161198A>C	uc010ouc.2	+	4	816	c.764A>C	c.(763-765)aAc>aCc	p.N255T	SNX7_uc001dsa.3_Missense_Mutation_p.N191T|SNX7_uc010oud.2_Missense_Mutation_p.N200T	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	191					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAATGAATAACTTTATTGAA	0.383000														91			21		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028036	102028036	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028036G>A	uc021sdx.1	+	0	349	c.203G>A	c.(202-204)cGc>cAc	p.R68H	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	42					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGTGTATCCGCAAGCATTTC	0.662000														203			38		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148851380	148851380	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851380G>T	uc011kum.2	+	2	524	c.383G>T	c.(382-384)aGg>aTg	p.R128M	ZNF398_uc011kul.2_5'UTR|ZNF398_uc003wfl.3_Missense_Mutation_p.R123M	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	123					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CTGCGCAACAGGAACTTCTGG	0.537000														156			35		3.33393e-15	3.94119e-15	1	1	0
CCDC129	223075	broad.mit.edu	37	7	31682312	31682312	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682312A>C	uc011kae.2	+	10	1418	c.1406A>C	c.(1405-1407)aAc>aCc	p.N469T	CCDC129_uc011kad.1_Missense_Mutation_p.N453T|CCDC129_uc003tcj.1_Missense_Mutation_p.N443T|CCDC129_uc003tci.1_Missense_Mutation_p.N294T|CCDC129_uc003tck.1_Missense_Mutation_p.N351T	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	443										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCTTGCCAAACAGCCAGAGT	0.493000														65			17		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625190	23625190	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23625190C>T	uc003swk.2	-	0	957	c.307G>A	c.(307-309)Gcc>Acc	p.A103T						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TCAAAGGTGGCACTGCCAAAG	0.517000														103			27		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154026854	154026854	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154026854T>G	uc001fdw.3	-	24	3405	c.3333A>C	c.(3331-3333)caA>caC	p.Q1111H	NUP210L_uc009woq.3_Missense_Mutation_p.Q20H|NUP210L_uc010peh.2_Missense_Mutation_p.Q1111H	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1111						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GAACGATGGATTGGGGCTGGG	0.458000														108			38		0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758891	52758891	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52758891G>A	uc001sag.3	-	1	604	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	162	Linker 1.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity	p.R162S(2)|p.Q161L(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGCAGCAGCGCTGGTTCTGG	0.622000														183			43		0	0	1	0	0
SUFU	51684	broad.mit.edu	37	10	104352378	104352378	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104352378G>T	uc001kvy.2	+	3	685	c.494G>T	c.(493-495)aGc>aTc	p.S165I	SUFU_uc001kvw.2_Missense_Mutation_p.S165I|SUFU_uc001kvx.3_Missense_Mutation_p.S165I	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	165					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCCTGGCACAGCCCTTTGGAT	0.542000			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation					210			57		1.73933e-33	2.19787e-33	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65479270	65479270	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65479270C>T	uc003dmn.3	-	2	993	c.467G>A	c.(466-468)gGc>gAc	p.G156D	MAGI1_uc003dmm.3_Missense_Mutation_p.G156D|MAGI1_uc003dmo.3_Missense_Mutation_p.G156D|MAGI1_uc003dmp.3_Missense_Mutation_p.G156D|MAGI1_uc010hny.2_Missense_Mutation_p.G40D|MAGI1_uc021xac.1_Missense_Mutation_p.G156D|MAGI1_uc003dmr.3_Missense_Mutation_p.G156D	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	156	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ATAGTCCACGCCAGGCACTTC	0.478000														86			11		0	0	1	0	0
ERCC6	2074	broad.mit.edu	37	10	50678905	50678905	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50678905C>T	uc001jhs.4	-	17	3255	c.3101G>A	c.(3100-3102)tGc>tAc	p.C1034Y	ERCC6_uc009xod.3_Missense_Mutation_p.C194Y|ERCC6_uc010qgr.2_Missense_Mutation_p.C404Y|ERCC6_uc001jhr.4_Missense_Mutation_p.C402Y	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1034					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTTTAGATGGCATTTGGGTGT	0.368000								Direct reversal of damage;Nucleotide excision repair (NER)						145			30		0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186339802	186339802	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186339802T>G	uc003ixo.2	-	2	322	c.205A>C	c.(205-207)Aac>Cac	p.N69H	UFSP2_uc003ixq.2_5'UTR	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	69						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGAATGGTGTTTATGTCACTG	0.398000														127			19		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84666282	84666282	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84666282G>T	uc003uic.3	-	9	1154	c.1114C>A	c.(1114-1116)Cca>Aca	p.P372T	SEMA3D_uc010led.3_Missense_Mutation_p.P372T|SEMA3D_uc003uib.3_Missense_Mutation_p.P11T	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	372	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGAGCATATGGACCATTAAAA	0.413000														121			31		2.46105e-21	3.01812e-21	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77425586	77425586	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425586G>A	uc021sqy.1	-	6	4414	c.3838C>T	c.(3838-3840)Ctt>Ttt	p.L1280F		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1280					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CGATTCTCAAGTCCTCGATAA	0.522000														245			46		0	0	1	0	0
VPS33B	26276	broad.mit.edu	37	15	91548319	91548319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91548319C>T	uc002bqp.1	-	14	1490	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	VPS33B_uc002bqq.1_Missense_Mutation_p.S288N|VPS33B_uc010uqu.1_Missense_Mutation_p.S352N	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	379					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GTAGCTGGTGCTCTCCCGGAT	0.567000														116			17		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6619865	6619865	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6619865C>T	uc001qoo.2	+	4	379	c.333C>T	c.(331-333)aaC>aaT	p.N111N	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Silent_p.N66N	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	111	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGATAGAAACGCCCATCTAA	0.498000														149			33		0	0	1	0	0
CCDC69	26112	broad.mit.edu	37	5	150581210	150581210	+	Missense_Mutation	SNP	C	T	T	rs140977954	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150581210C>T	uc003ltq.3	-	2	287	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CCDC69_uc010jhu.3_5'UTR|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	55								p.R55G(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCTGGTGCCGCTCAGCCTC	0.448000														103			33		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18385498	18385498	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18385498T>C	uc002zng.4	-	3	841	c.488A>G	c.(487-489)cAa>cGa	p.Q163R	MICAL3_uc011agl.2_Missense_Mutation_p.Q163R|MICAL3_uc002znh.2_Missense_Mutation_p.Q163R|MICAL3_uc002znj.1_5'UTR|MICAL3_uc002znk.1_Missense_Mutation_p.Q163R|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.Q163R|MICAL3_uc011agm.1_Missense_Mutation_p.Q163R	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	163						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AAGTATTAGTTGGAGCTGACG	0.502000														19			3		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239054470	239054470	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239054470G>A	uc002vxr.2	+	4	1254	c.1147G>A	c.(1147-1149)Ggc>Agc	p.G383S		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	383										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTACGTTATCGGCGGTGAGGC	0.657000														27			18		0	0	1	0	0
NEDD1	121441	broad.mit.edu	37	12	97303532	97303532	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97303532G>A	uc001tew.3	+	1	162	c.16G>A	c.(16-18)Gca>Aca	p.A6T	NEDD1_uc001teu.4_5'UTR|NEDD1_uc001tev.4_5'UTR|NEDD1_uc010svc.2_Intron|NEDD1_uc001tex.3_5'Flank	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	0					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTTGTAGGCGCAGTCATGCA	0.328000														58			14		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49860490	49860490	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49860490C>T	uc001zxl.2	-	8	993	c.699G>A	c.(697-699)gtG>gtA	p.V233V	C15orf33_uc001zxm.3_Intron	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	233										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TGAAAAGTGTCACATAACTTT	0.284000														35			4		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89985005	89985005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89985005G>A	uc001tbh.3	-	19	3600	c.3419C>T	c.(3418-3420)tCg>tTg	p.S1140L	ATP2B1_uc001tbg.3_3'UTR|ATP2B1_uc009zsr.3_Non-coding_Transcript|ATP2B1_uc001tbf.3_Missense_Mutation_p.S774L	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	1178					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.S1140L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						GTTGTGAATCGAACTTCTTGA	0.378000														101			19		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117361139	117361139	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117361139G>A	uc003vjf.3	-	19	4585	c.4493C>T	c.(4492-4494)gCt>gTt	p.A1498V		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1498										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)		TGACAGAGAAGCATTCCTGTT	0.303000														81			11		0	0	1	0	0
CEPT1	10390	broad.mit.edu	37	1	111690517	111690517	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111690517C>T	uc001eah.1	+	1	389	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	CEPT1_uc001eag.3_Missense_Mutation_p.R61W|CEPT1_uc001eai.1_Missense_Mutation_p.R61W|CEPT1_uc001eaj.1_Missense_Mutation_p.R61W	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	61						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AAGTGCTGGACGGTCCCTGCT	0.448000														143			38		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21678582	21678582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21678582G>A	uc003svc.3	+	27	4889	c.4858G>A	c.(4858-4860)Gct>Act	p.A1620T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1620	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAAGCTCTCGCTGAATACCT	0.393000									Kartagener syndrome					118			29		0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146731508	146731508	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146731508T>G	uc001epm.4	+	5	575	c.512T>G	c.(511-513)cTt>cGt	p.L171R	CHD1L_uc001epn.4_Missense_Mutation_p.L58R|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.L171R|CHD1L_uc010ozp.2_5'UTR|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	171	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TGGAGTGTTCTTGTTGTGGAT	0.378000														232			50		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46812577	46812577	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46812577G>A	uc002peh.3	+	5	762	c.731G>A	c.(730-732)cGc>cAc	p.R244H	HIF3A_uc002pef.2_Missense_Mutation_p.R244H|HIF3A_uc002peg.4_Missense_Mutation_p.R244H|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R188H|HIF3A_uc002pej.2_Missense_Mutation_p.R175H|HIF3A_uc010xxy.2_Missense_Mutation_p.R175H|HIF3A_uc002pel.3_Missense_Mutation_p.R242H|HIF3A_uc010xxz.2_Missense_Mutation_p.R193H	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	244	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TTCCTCAGCCGCCACAGCCTG	0.662000														51			9		0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37763902	37763902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37763902G>A	uc002yvj.3	+	3	451	c.313G>A	c.(313-315)Gct>Act	p.A105T		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	105					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GGAGCAGATCGCTTTTCAGGA	0.517000														61			8		0	0	1	0	0
TINAGL1	64129	broad.mit.edu	37	1	32050933	32050933	+	Missense_Mutation	SNP	G	A	A	rs146987687		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32050933G>A	uc001bta.3	+	7	1165	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	TINAGL1_uc010ogj.2_Missense_Mutation_p.G316S|TINAGL1_uc010ogk.1_Missense_Mutation_p.G347S|TINAGL1_uc021oko.1_Missense_Mutation_p.G242S	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	347					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCGCCTCGGCTCCAACGT	0.602000														225			67		0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14069989	14069989	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14069989G>A	uc002mxt.3	+	6	923	c.917G>A	c.(916-918)cGt>cAt	p.R306H	DCAF15_uc002mxu.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	306										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCCCCAGCCCGTTCTTCTGGG	0.701000														190			45		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129868066	129868066	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129868066A>G	uc009yat.3	+	13	1568	c.1151A>G	c.(1150-1152)cAg>cGg	p.Q384R	PTPRE_uc001lkb.3_Missense_Mutation_p.Q373R|PTPRE_uc009yau.2_Missense_Mutation_p.Q373R|PTPRE_uc001lkd.3_Missense_Mutation_p.Q315R|PTPRE_uc010quq.1_Missense_Mutation_p.Q274R	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	373	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATCCGTAATCAGCGCCCTCAG	0.542000											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		204			37		0	0	1	0	0
ARL4C	10123	broad.mit.edu	37	2	235404671	235404671	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235404671T>G	uc002vvm.4	-	0	563	c.560A>C	c.(559-561)aAg>aCg	p.K187T	ARL4C_uc002vvn.3_Missense_Mutation_p.K187T	NM_005737	NP_005728	P56559	ARL4C_HUMAN	Homo sapiens ADP-ribosylation factor-like 4C (ARL4C), mRNA.	187					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	GTP binding|GTPase activity|alpha-tubulin binding			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		CTTCTTCTGCTTGAGGGACTT	0.577000														116			28		0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	6007544	6007544	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6007544C>A	uc003zjq.4	-	0	460	c.244G>T	c.(244-246)Ggc>Tgc	p.G82C	MIR4665_uc022bde.1_5'Flank	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	82										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ATGCGGTAGCCCTGCTGTAGC	0.662000														90			20		1.00905e-13	1.17906e-13	1	1	0
NAA25	80018	broad.mit.edu	37	12	112481532	112481532	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112481532G>A	uc001ttm.3	-	17	2205	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.A688V|NAA25_uc009zwa.2_Missense_Mutation_p.A716V	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	716						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CCCATTCTCGGCAGTCTTCTC	0.478000														185			21		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178409946	178409946	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178409946G>T	uc003mjr.3	-	8	2580	c.2401C>A	c.(2401-2403)Ccc>Acc	p.P801T	GRM6_uc003mjq.3_Missense_Mutation_p.P204T	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	801					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAAGATGGGCACGAATGCC	0.577000														153			26		1.42536e-11	1.62618e-11	1	1	0
ZNF212	7988	broad.mit.edu	37	7	148951066	148951066	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148951066G>T	uc003wfp.3	+	4	1176	c.1048G>T	c.(1048-1050)Gag>Tag	p.E350*		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			TGAGGAGCCAGAGGAGAGCCT	0.572000														49			13		0.000219431	0.000226893	1	1	0
PKD2	5311	broad.mit.edu	37	4	88959637	88959637	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88959637C>T	uc003hre.3	+	3	1165	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	360						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TCCCTTTGGGCCCCGAAATGG	0.453000														132			18		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17472966	17472966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17472966C>T	uc002zlw.3	-	1	383	c.275G>A	c.(274-276)cGc>cAc	p.R92H	GAB4_uc010gqs.1_Missense_Mutation_p.R92H	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	92	PH.							p.R92P(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTTGATGGTGCGCAGGGGCTT	0.502000														352			72		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086401	160086401	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160086401C>T	uc002uag.3	+	26	4738	c.4464C>T	c.(4462-4464)atC>atT	p.I1488I	TANC1_uc010zcm.2_3'UTR|TANC1_uc010fon.3_Silent_p.I332I	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1488						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTCATACATCCGAAACCTTC	0.552000														208			90		0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25288673	25288673	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25288673G>A	uc002wuq.3	-	8	1075	c.796C>T	c.(796-798)Cca>Tca	p.P266S	ABHD12_uc002wus.2_Missense_Mutation_p.P266S	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	266						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						AGGGCATCTGGAGGCGTCTCT	0.463000														117			15		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72821372	72821372	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821372C>T	uc002fck.3	-	9	11476	c.10803G>A	c.(10801-10803)tcG>tcA	p.S3601S	AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Silent_p.S2687S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3601					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S3601W(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGCGGCGGCCGACGGGGGAG	0.652000														114			24		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219870946	219870946	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219870946C>A	uc002vjl.1	-	31	4804	c.4720_splice	c.e31-1	p.T1574_splice		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1574						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGGCAGTGTCTTTGGGAAGG	0.602000														189			39		1.07637e-12	1.24666e-12	1	1	0
MKNK2	2872	broad.mit.edu	37	19	2043157	2043157	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2043157G>A	uc002lus.2	-	6	704	c.459C>T	c.(457-459)gaC>gaT	p.D153D	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Intron|MKNK2_uc010xgv.1_Silent_p.D22D|MKNK2_uc002lur.2_Silent_p.D153D|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	153	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTAGAAGCGGTCCTCCTCCT	0.627000														350			71		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65905755	65905755	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65905755G>A	uc002jgf.3	+	9	2931	c.2870G>A	c.(2869-2871)aGt>aAt	p.S957N	BPTF_uc002jge.3_Missense_Mutation_p.S1083N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1083					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCACGAAGTCCAAAAAAA	0.318000														35			12		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41008410	41008410	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41008410A>G	uc002ony.3	+	9	1285	c.1199A>G	c.(1198-1200)gAc>gGc	p.D400G	SPTBN4_uc002onx.3_Missense_Mutation_p.D400G|SPTBN4_uc002onz.3_Missense_Mutation_p.D400G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	400					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)			TGGGATATTGACAAGGTGAGG	0.562000														162			9		0	0	1	0	0
MYADM	91663	broad.mit.edu	37	19	54377422	54377422	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377422C>T	uc002qcm.3	+	2	787	c.639C>T	c.(637-639)tgC>tgT	p.C213C	MYADM_uc002qcl.3_Silent_p.C213C|MYADM_uc002qcn.3_Silent_p.C213C|MYADM_uc002qco.3_Silent_p.C213C|MYADM_uc002qcp.3_Silent_p.C213C|MYADM_uc021vbb.1_Silent_p.C213C	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	213	MARVEL 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		ACGCCATCTGCTTCATCCTAG	0.627000														301			79		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904345	129904345	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129904345A>G	uc001lke.3	-	12	5954	c.5759T>C	c.(5758-5760)tTt>tCt	p.F1920S	MKI67_uc001lkf.3_Missense_Mutation_p.F1560S|MKI67_uc009yav.1_Missense_Mutation_p.F1495S|MKI67_uc009yaw.1_Missense_Mutation_p.F1070S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1920	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTCCCCACAAATGTGTTGAT	0.468000														365			68		0	0	1	0	0
CST2	1470	broad.mit.edu	37	20	23807102	23807102	+	Missense_Mutation	SNP	G	A	A	rs112783512	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807102G>A	uc002wtq.1	-	0	211	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C		NM_001322	NP_001313	P09228	CYTT_HUMAN	Homo sapiens cystatin SA (CST2), mRNA.	66						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						CGCAGCAGGCGTCTGTAGTAC	0.557000														96			27		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113697720	113697720	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113697720G>A	uc003eax.3	-	14	2592	c.2445C>T	c.(2443-2445)atC>atT	p.I815I	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	815										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAGCTCTGGATGACTCTCT	0.418000														207			52		0	0	1	0	0
CARD9	64170	broad.mit.edu	37	9	139265005	139265005	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139265005G>T	uc022bpp.1	-	4	942	c.776C>A	c.(775-777)gCc>gAc	p.A259D	CARD9_uc004chg.3_Missense_Mutation_p.A259D|CARD9_uc022bpo.1_Missense_Mutation_p.A259D|CARD9_uc011mdx.1_Missense_Mutation_p.A155D	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	259					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCACCCGGGCCTGGAGCAG	0.711000														47			8		0.0381472	0.038366	1	1	0
NELL2	4753	broad.mit.edu	37	12	45105088	45105088	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45105088G>A	uc010skz.1	-	11	1451	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	NELL2_uc001rof.3_Silent_p.C391C|NELL2_uc001rog.2_Silent_p.C392C|NELL2_uc001roh.2_Silent_p.C392C|NELL2_uc009zkd.2_Silent_p.C391C|NELL2_uc010sla.1_Silent_p.C415C|NELL2_uc001roi.1_Silent_p.C392C|NELL2_uc010slb.1_Silent_p.C391C|NELL2_uc001roj.2_Silent_p.C392C	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	392	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACAAACTTTGCAACAGCTGT	0.388000														77			10		0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44364674	44364674	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44364674G>A	uc003bej.3	+	3	495	c.298G>A	c.(298-300)Gat>Aat	p.D100N	SAMM50_uc011aqd.2_5'UTR	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	100					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TAGACAAGTGGATGTTTTGAT	0.368000														143			27		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141334893	141334893	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141334893G>T	uc003llx.3	-	0	3735	c.2524C>A	c.(2524-2526)Ctg>Atg	p.L842M		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	842					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGTCTTGCAGCACCTCTCGG	0.652000														167			36		2.42023e-17	2.90129e-17	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900703	112900703	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900703C>A	uc004bei.2	+	8	3767	c.3575C>A	c.(3574-3576)gCt>gAt	p.A1192D	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.A960D|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.A960D|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A770D|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.A818D|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.A818D|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A778D|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.A729D|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.A729D	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	729							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATCCGAGCAGCTCAGGAAAGG	0.542000														104			15		1.49906e-05	1.573e-05	1	1	0
TDP2	51567	broad.mit.edu	37	6	24651141	24651141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24651141C>T	uc003nej.3	-	6	989	c.964G>A	c.(964-966)Gca>Aca	p.A322T		NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	322					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TCTGCTGCTGCTCTGAAAAAT	0.403000								Direct reversal of damage						71			16		0	0	1	0	0
NLGN2	57555	broad.mit.edu	37	17	7318933	7318933	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7318933G>A	uc002ggt.1	+	5	1214	c.1141G>A	c.(1141-1143)Ggc>Agc	p.G381S		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	381					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CATGCTCATCGGCGTCAACCA	0.587000														264			63		0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144764985	144764985	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:144764985A>G	uc002tvp.3	-	6	918	c.639T>C	c.(637-639)gaT>gaC	p.D213D	GTDC1_uc002tvo.3_Silent_p.D213D|GTDC1_uc021vqf.1_Silent_p.D213D|GTDC1_uc010fnn.3_Silent_p.D213D|GTDC1_uc002tvs.3_Silent_p.D181D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Silent_p.D213D|GTDC1_uc010fno.3_Silent_p.D84D|GTDC1_uc002tvt.2_Silent_p.D213D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	213					biosynthetic process		transferase activity, transferring glycosyl groups	p.E212D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TCTTCAATAAATCCTCTGAAT	0.423000														118			8		0	0	1	0	0
ZNF768	79724	broad.mit.edu	37	16	30537047	30537047	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30537047C>T	uc002dyk.4	-	1	590	c.414G>A	c.(412-414)cgG>cgA	p.R138R	ZNF768_uc010vex.2_Silent_p.R107R|ZNF768_uc010vew.2_Silent_p.R107R	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	138	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						AGCCAGGGCTCCGGGGTTCAT	0.507000														217			48		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129012165	129012165	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129012165G>A	uc003iga.3	+	5	499	c.368G>A	c.(367-369)cGa>cAa	p.R123Q	LARP1B_uc003ifw.1_Missense_Mutation_p.R76Q|LARP1B_uc003ifx.3_Missense_Mutation_p.R123Q|LARP1B_uc003ify.3_Missense_Mutation_p.R123Q|LARP1B_uc003ifz.1_Missense_Mutation_p.R123Q	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	123	Arg-rich.						RNA binding	p.R123L(3)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGTTGGAAGCGAGATAGAGAA	0.373000														83			25		0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1819095	1819095	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1819095C>T	uc002lua.4	-	7	2781	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	REXO1_uc010dsq.3_Missense_Mutation_p.V205M|REXO1_uc010xgs.1_5'UTR|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript|LOC100288123_uc002lub.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	896						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCCAACACCACCTCGTGG	0.667000														78			23		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112900226	112900226	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112900226C>A	uc004bei.2	+	8	3290	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.A801D|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.A801D|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A611D|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.A659D|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.A659D|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A619D|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.A570D|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.A570D	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	570							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAGTATCAGGCTGGCCTCCTG	0.542000														63			10		0.000442599	0.000455268	1	1	0
HCN4	10021	broad.mit.edu	37	15	73621943	73621943	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73621943C>T	uc002avp.3	-	3	2555	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	521					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGGGAGGAGTCCAGGGACTGG	0.637000														166			34		0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551317	39551317	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39551317C>T	uc002hwn.3	-	5	933	c.880G>A	c.(880-882)Gac>Aac	p.D294N	KRT31_uc010cxn.3_Missense_Mutation_p.D294N	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	294	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAGAGAGTCTCGCTGTGGT	0.547000														108			21		0	0	1	0	0
IBSP	3381	broad.mit.edu	37	4	88731834	88731834	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88731834C>A	uc003hqx.4	+	5	421	c.323C>A	c.(322-324)tCt>tAt	p.S108Y		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	108	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACCACACTTTCTGCTACAACA	0.428000														150			29		6.38683e-12	7.32513e-12	1	1	0
CLN8	2055	broad.mit.edu	37	8	1719499	1719499	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1719499C>T	uc003wpo.4	+	1	584	c.279C>T	c.(277-279)gcC>gcT	p.A93A		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	93	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TGCTGCATGCCGACAAGGCGC	0.582000														212			22		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113519014	113519014	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113519014A>C	uc003ynu.3	-	28	4960	c.4801T>G	c.(4801-4803)Tca>Gca	p.S1601A	CSMD3_uc003yns.3_Missense_Mutation_p.S873A|CSMD3_uc003ynt.3_Missense_Mutation_p.S1561A|CSMD3_uc011lhx.2_Missense_Mutation_p.S1497A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1601	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGGTGAAAGAATAAAG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				63			12		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144890804	144890804	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144890804G>A	uc003yzp.1	-	14	2097	c.2090C>T	c.(2089-2091)gCc>gTc	p.A697V	SCRIB_uc003yzo.1_Missense_Mutation_p.A697V	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	697	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGAAACCACGGCCCCCTCCTT	0.637000														101			15		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52257562	52257562	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52257562C>T	uc003ddb.3	-	4	1271	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	TLR9_uc003dda.2_Missense_Mutation_p.R257H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	257					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTGGTCGCAGCGGCGGCAATT	0.617000														78			11		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853592	2853592	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2853592G>A	uc002lwo.3	+	3	1667	c.1529G>A	c.(1528-1530)tGc>tAc	p.C510Y	ZNF555_uc002lwn.4_Missense_Mutation_p.C509Y	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTATAAATGCAAGCAGTGT	0.413000														114			16		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1904667	1904667	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1904667C>T	uc001lui.3	+	3	550	c.375C>T	c.(373-375)taC>taT	p.Y125Y	LSP1_uc001luj.3_Silent_p.Y253Y|LSP1_uc001luk.3_Silent_p.Y63Y|LSP1_uc001lul.3_Silent_p.Y63Y|LSP1_uc001lum.3_Silent_p.Y63Y	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	125					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity	p.Y63Y(1)|p.Y125Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		TGCATGCCTACGAAAAGGAGG	0.587000														145			27		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56177726	56177726	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177726G>T	uc003jqw.4	+	13	3200	c.2699G>T	c.(2698-2700)aGt>aTt	p.S900I		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	900				DGQQDSFLQASVPNNYLETTENSSP -> QRQQHNSFCRHL FPTTIWKPQRTVPL (in Ref. 2; AAC97073).	MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAGAGAACAGTTCCCCTGAG	0.473000														80			23		6.44725e-10	7.21145e-10	1	1	0
PRF1	5551	broad.mit.edu	37	10	72357840	72357840	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72357840G>A	uc009xqg.3	-	2	1798	c.1637C>T	c.(1636-1638)cCt>cTt	p.P546L	PRF1_uc001jrf.4_Missense_Mutation_p.P546L	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	546					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTTTCCTGGAGGCTCCCCCAG	0.582000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis					105			24		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154393573	154393573	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393573G>A	uc010jih.1	+	0	314	c.154G>A	c.(154-156)Gat>Aat	p.D52N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	52	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTTCACCTACGATTTTGTGTT	0.483000														84			19		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195263	19195263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19195263C>T	uc002dfw.3	+	4	1076	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	SYT17_uc002dfx.3_Missense_Mutation_p.R188C|SYT17_uc002dfy.3_Missense_Mutation_p.R245C	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	249	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CGGGGTCAAACGCAAGACCCA	0.597000														319			58		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260853	42260853	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42260853A>G	uc002orm.2	+	1	559	c.410A>G	c.(409-411)cAg>cGg	p.Q137R		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	137	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GCAACCGGACAGTTCCATGTA	0.488000														418			84		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402959	133402959	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402959C>T	uc002ttl.3	+	1	1611	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	381						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGCACTCCACCACCGACAGC	0.622000														167			59		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32163591	32163591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32163591C>T	uc003obb.3	-	29	5774	c.5635G>A	c.(5635-5637)Gct>Act	p.A1879T	GPSM3_uc003oay.4_5'Flank|GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_3'UTR|NOTCH4_uc003oba.3_Missense_Mutation_p.A539T|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1879					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAAGTCCGAGCCTGCAGACAA	0.716000														45			11		0	0	1	0	0
NDUFS6	4726	broad.mit.edu	37	5	1802444	1802444	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1802444G>A	uc003jcy.3	+	1	178	c.142G>A	c.(142-144)Gat>Aat	p.D48N	MRPL36_uc003jcx.4_5'Flank	NM_004553	NP_004544	O75380	NDUS6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA.	48					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GGTTTATGATGATAAAGACTA	0.338000														49			12		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19707735	19707735	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19707735C>T	uc002zpv.2	+	4	461	c.336C>T	c.(334-336)ttC>ttT	p.F112F	SEPT5_uc002zpw.1_Silent_p.F121F|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	112					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGCCGGGATTCGGGGACGCTG	0.592000														75			16		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	48994109	48994109	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48994109T>C	uc003gyv.3	+	4	693	c.511_splice	c.e4+2	p.D171_splice	CWH43_uc011bzl.2_Splice_Site_p.D144_splice	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	171					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCACAGGTAATACTGTAA	0.368000														78			12		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116339490	116339490	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116339490A>C	uc003vij.3	+	1	539	c.352A>C	c.(352-354)Atg>Ctg	p.M118L	MET_uc022akk.1_Missense_Mutation_p.M118L|MET_uc010lkh.3_Missense_Mutation_p.M118L|MET_uc011knc.1_Missense_Mutation_p.M118L|MET_uc011knd.2_Missense_Mutation_p.M118L|MET_uc011knf.2_Missense_Mutation_p.M118L|MET_uc011kne.2_Missense_Mutation_p.M118L|MET_uc011kng.1_Missense_Mutation_p.M118L|MET_uc011knh.1_Missense_Mutation_p.M118L|MET_uc011kni.2_Missense_Mutation_p.M118L|MET_uc003vii.1_Missense_Mutation_p.M137L|MET_uc010lkg.3_Missense_Mutation_p.M118L|MET_uc011kmz.1_Missense_Mutation_p.M118L|MET_uc011kna.1_Missense_Mutation_p.M118L|MET_uc011knb.1_Missense_Mutation_p.M118L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	118	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAACATCAACATGGCTCTAGT	0.488000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					214			12		0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47434981	47434981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47434981G>A	uc009ylq.3	+	4	744	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SLC39A13_uc001nfd.3_Missense_Mutation_p.A190T|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Missense_Mutation_p.A190T	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	190	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		TGCTGCTGCCGCCGCGCTCAA	0.672000														134			31		0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176573004	176573004	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:176573004G>T	uc003iuf.3	-	3	1326	c.522C>A	c.(520-522)tgC>tgA	p.C174*	GPM6A_uc011ckj.2_Nonsense_Mutation_p.C167*|GPM6A_uc003iug.3_Nonsense_Mutation_p.C174*|GPM6A_uc003iuh.3_Nonsense_Mutation_p.C163*	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	174						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GAAGGTCCAAGCAGAGATTTG	0.448000														120			22		1.66031e-10	1.87009e-10	1	1	0
GPR108	56927	broad.mit.edu	37	19	6733016	6733016	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733016G>T	uc002mfp.3	-	9	961	c.915C>A	c.(913-915)atC>atA	p.I305I	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	305						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGAGGAGAGAGATGCTCTTGG	0.647000														38			5		0.014758	0.0149061	1	1	0
NPIPL2	440348	broad.mit.edu	37	16	74425384	74425384	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74425384G>A	uc010vmt.1	+	5	556	c.555G>A	c.(553-555)caG>caA	p.Q185Q				C9J9U8	C9J9U8_HUMAN	RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;	246										endometrium(5)|kidney(3)|lung(1)|prostate(8)	17						TGGGCCGCCAGCCACCTCCTC	0.532000														179			44		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550883	8550883	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550883G>A	uc010dwe.3	+	13	1651	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	HNRNPM_uc010xke.1_Missense_Mutation_p.R470H|HNRNPM_uc010dwd.3_Missense_Mutation_p.R485H|HNRNPM_uc002mka.3_Missense_Mutation_p.R389H|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	524	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding	p.R524H(2)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GCCATCGAGCGCATGGGCCTG	0.697000														261			63		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657135	113657135	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113657135C>A	uc001edf.1	+	14	2365	c.2167C>A	c.(2167-2169)Cct>Act	p.P723T	LRIG2_uc009wgn.1_Missense_Mutation_p.P620T	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	723	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGGAGGGAGTCCTGCCCCTCG	0.483000														110			12		5.50884e-06	5.8131e-06	1	1	0
ZNF730	100129543	broad.mit.edu	37	19	23329254	23329254	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23329254C>T	uc002nrb.1	+	3		c.1607C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CCTCACTACACATAAGATAAT	0.383000														35			7		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1494748	1494748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1494748C>T	uc002fsu.3	-	7	1053	c.746G>A	c.(745-747)aGc>aAc	p.S249N	SLC43A2_uc002fsv.3_Missense_Mutation_p.S249N|SLC43A2_uc002fsw.3_Missense_Mutation_p.S249N|SLC43A2_uc002fsx.3_Missense_Mutation_p.S249N|SLC43A2_uc010vqo.1_Missense_Mutation_p.S112N	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	249					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GCCCAGCCAGCTGAACTTGAT	0.687000														186			36		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457292	6457292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457292C>T	uc001qnw.3	-	11	2198	c.1934G>A	c.(1933-1935)cGa>cAa	p.R645Q	SCNN1A_uc001qnv.3_Missense_Mutation_p.R286Q|SCNN1A_uc001qnx.3_Missense_Mutation_p.R586Q|SCNN1A_uc010sfb.2_Missense_Mutation_p.R609Q	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	586					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	TCGGAACCTTCGGAGCAGCAT	0.622000														94			6		0	0	1	0	0
USP44	84101	broad.mit.edu	37	12	95922698	95922698	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95922698A>C	uc001teg.3	-	2	1653	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	USP44_uc001teh.3_Nonsense_Mutation_p.Y503*|USP44_uc009zte.3_Nonsense_Mutation_p.Y500*	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	503					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CACTGCATTGATACCTTTCTG	0.378000														50			18		0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24033572	24033572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033572C>T	uc001wkl.2	-	9	1284	c.947G>A	c.(946-948)cGc>cAc	p.R316H	AP1G2_uc001wkk.3_Missense_Mutation_p.R244H|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript|AP1G2_uc010tnp.1_Missense_Mutation_p.R316H	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	316					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	p.R316C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GAGTAGGAAGCGACCAAGAAT	0.532000														133			16		0	0	1	0	0
RPS28	6234	broad.mit.edu	37	19	8386871	8386871	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8386871C>A	uc002mjn.3	+	2	153	c.122C>A	c.(121-123)tCc>tAc	p.S41Y	NDUFA7_uc002mjm.2_5'Flank	NM_001031	NP_001022	P62857	RS28_HUMAN	Homo sapiens ribosomal protein S28 (RPS28), mRNA.	41					endocrine pancreas development|rRNA processing|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										ACGAGCCGATCCATCATCCGC	0.642000														22			7		1	1	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55719536	55719536	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55719536G>T	uc010qhy.1	-	23	3488	c.3093C>A	c.(3091-3093)gtC>gtA	p.V1031V	PCDH15_uc010qhq.2_Silent_p.V1031V|PCDH15_uc010qhr.2_Silent_p.V1026V|PCDH15_uc021pqv.1_Silent_p.V1026V|PCDH15_uc021pqw.1_Silent_p.V1038V|PCDH15_uc010qht.2_Silent_p.V1033V|PCDH15_uc021pqx.1_Silent_p.V1026V|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.V1026V|PCDH15_uc021pqz.1_Silent_p.V1004V|PCDH15_uc010qhv.1_Silent_p.V1026V|PCDH15_uc010qhw.1_Silent_p.V989V|PCDH15_uc010qhx.1_Silent_p.V955V|PCDH15_uc010qhz.1_Silent_p.V1026V|PCDH15_uc010qia.1_Silent_p.V1004V|PCDH15_uc001jju.1_Silent_p.V1026V|PCDH15_uc010qib.1_Silent_p.V1004V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1026	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.V1031V(1)|p.V1026V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGATGTAAGACAAGAATCT	0.398000										HNSCC(58;0.16)				64			13		4.3838e-07	4.70703e-07	1	1	0
AASDHPPT	60496	broad.mit.edu	37	11	105950319	105950319	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105950319G>A	uc001pjc.1	+	1	455	c.309G>A	c.(307-309)ccG>ccA	p.P103P	KBTBD3_uc001pja.3_5'Flank|KBTBD3_uc001pjb.3_5'Flank|KBTBD3_uc009yxm.3_5'Flank|AASDHPPT_uc010rvn.1_Non-coding_Transcript	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	103					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding	p.P103P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		ATCCTTACCCGAATTTCAACT	0.393000														99			26		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57378188	57378188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57378188G>A	uc001cyo.2	+	9	1625	c.1493G>A	c.(1492-1494)cGa>cAa	p.R498Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	498	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.R498Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AATGCCTGCCGATGTGGGCCT	0.632000														228			64		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127225162	127225162	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127225162C>T	uc003vma.3	-	0	493	c.75G>A	c.(73-75)aaG>aaA	p.K25K		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	25						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GAAGCTGCTTCTTCTGGGTCT	0.552000											OREG0003808	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		231			35		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4621244	4621244	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4621244C>T	uc010vsg.2	+	7	838	c.610C>T	c.(610-612)Cct>Tct	p.P204S	ARRB2_uc002fyj.3_Missense_Mutation_p.P183S|ARRB2_uc002fyk.3_Missense_Mutation_p.P168S|ARRB2_uc002fyl.3_Missense_Mutation_p.P183S|ARRB2_uc002fym.3_Missense_Mutation_p.P168S|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	183					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	p.S203A(1)		large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CGGCCCCCAGCCTTCAGCCGA	0.627000														81			15		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088351	31088351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31088351G>A	uc002eap.3	+	1	995	c.706G>A	c.(706-708)Gag>Aag	p.E236K	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.E236K	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E236E(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGCTGAGGAGGAGCGGCGGTA	0.597000														110			33		0	0	1	0	0
PGAM1	5223	broad.mit.edu	37	10	99190716	99190716	+	Missense_Mutation	SNP	G	A	A	rs138208659	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99190716G>A	uc001knh.3	+	2	457	c.419G>A	c.(418-420)cGc>cAc	p.R140H	PGAM1_uc010qov.2_Missense_Mutation_p.R125H	NM_002629	NP_002620	P18669	PGAM1_HUMAN	Homo sapiens phosphoglycerate mutase 1 (brain) (PGAM1), mRNA.	140					gluconeogenesis|glycolysis|regulation of glycolysis|regulation of pentose-phosphate shunt|respiratory burst	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity|protein kinase binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6		Colorectal(252;0.162)		Epithelial(162;8.36e-10)|all cancers(201;5.62e-08)		GCTTAGGATCGCAGGTATGCA	0.428000														94			20		0	0	1	0	0
PISD	23761	broad.mit.edu	37	22	32017820	32017820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32017820G>A	uc003alm.4	-	3	431	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	PISD_uc003alk.2_Missense_Mutation_p.R91C|PISD_uc011alr.1_Missense_Mutation_p.R91C	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	125					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGATTGAGGCGACCCCAGGCC	0.622000														181			39		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124383316	124383316	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124383316G>A	uc001uft.4	+	54	9266	c.9241G>A	c.(9241-9243)Gcc>Acc	p.A3081T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3081	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAGTCCGCCGCCTGCGAGGC	0.647000														56			13		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2406797	2406797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2406797G>A	uc022brx.1	-	0	1964	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.A655V|ZBED1_uc004cqg.2_Missense_Mutation_p.A655V|ZBED1_uc022brw.1_Missense_Mutation_p.A655V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	655						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCGCCTCTGCCCCACTCCG	0.657000														279			90		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155508756	155508756	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155508756C>T	uc003iod.1	-	3	476	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FGA_uc003ioe.1_Missense_Mutation_p.V140I|FGA_uc003iof.1_Missense_Mutation_p.V140I	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	140					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGCTTCAGGACTTCAATTCTG	0.403000														122			27		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671708	186671708	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671708C>A	uc002upl.3	+	16	17942	c.17942C>A	c.(17941-17943)cCt>cAt	p.P5981H	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAATGCCACCTATGCATAAA	0.343000														79			19		7.21436e-19	8.73891e-19	1	1	0
EIF4A2	1974	broad.mit.edu	37	3	186505616	186505616	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186505616G>A	uc003fqs.3	+	9	1063	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	EIF4A2_uc003fqu.3_Missense_Mutation_p.V343M|EIF4A2_uc003fqv.3_Missense_Mutation_p.V247M|EIF4A2_uc003fqw.3_Missense_Mutation_p.V247M|EIF4A2_uc011bsb.2_3'UTR	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	342	Helicase C-terminal.				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGTGCAACAAGTGTCTTTGGT	0.368000			T	BCL6	NHL									86			25		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727882	11727882	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727882G>A	uc002msk.2	+	3	772	c.564G>A	c.(562-564)acG>acA	p.T188T		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	188					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						ACATGTTAACGCATAGGGGAG	0.413000														83			19		0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56599357	56599357	+	Silent	SNP	G	A	A	rs144640338		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56599357G>A	uc010wnx.2	-	6	958	c.813C>T	c.(811-813)tgC>tgT	p.C271C	SEPT4_uc002iwk.2_Silent_p.C109C|SEPT4_uc010wnw.2_Silent_p.C109C|SEPT4_uc002iwl.2_Silent_p.C109C|SEPT4_uc002iwm.2_Silent_p.C256C|SEPT4_uc002iwo.2_Silent_p.C237C|SEPT4_uc002iwp.2_Silent_p.C237C|SEPT4_uc010wny.2_Silent_p.C248C|SEPT4_uc010dcy.2_Silent_p.C138C	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	256					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGTACAGGCAGCAGTGCA	0.562000														152			25		0	0	1	0	0
PPP2R5B	5526	broad.mit.edu	37	11	64695588	64695588	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64695588C>A	uc001obz.3	+	3	842	c.549C>A	c.(547-549)ccC>ccA	p.P183P	PPP2R5B_uc001oby.3_Silent_p.P183P	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	183					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						ACTTCCAGCCCTCCGTGGCCA	0.557000														155			33		7.04047e-22	8.66048e-22	1	1	0
PSTPIP1	9051	broad.mit.edu	37	15	77325208	77325208	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77325208G>A	uc002bcf.2	+	11	1294	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	PSTPIP1_uc010bkt.1_Non-coding_Transcript|PSTPIP1_uc010bku.1_Missense_Mutation_p.V273M|PSTPIP1_uc010bkw.1_Intron|PSTPIP1_uc002bci.1_Intron	NM_003978	NP_003969	O43586	PPIP1_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1), mRNA.	282					cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCAGCTCCGGTGCCCTACCA	0.647000														15			9		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23326238	23326238	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23326238C>T	uc001irm.4	+	18	2532	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	ARMC3_uc010qcv.2_Missense_Mutation_p.R810C|ARMC3_uc010qcw.2_Missense_Mutation_p.R554C	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	817							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTCCCTAGTTCGCGGAGAGTA	0.542000														107			27		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408552	29408552	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408552G>A	uc011dlp.2	+	0	837	c.760G>A	c.(760-762)Gca>Aca	p.A254T	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTATGGCACCGCACTCTTTAT	0.582000														633			22		0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787891	151787891	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151787891G>A	uc001ezh.3	-	4	417	c.309C>T	c.(307-309)ttC>ttT	p.F103F	RORC_uc001ezg.3_Silent_p.F82F|RORC_uc010pdo.2_Silent_p.F157F|RORC_uc010pdp.2_Silent_p.F103F	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	103	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACATGCGGCCGAACTTGACAG	0.552000														106			24		0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151672727	151672727	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672727G>A	uc011eep.2	+	3	3441	c.3201G>A	c.(3199-3201)caG>caA	p.Q1067Q	AKAP12_uc003qoe.3_Silent_p.Q1067Q|AKAP12_uc003qof.3_Silent_p.Q969Q|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Silent_p.Q962Q	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	1067					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ATGTGCTTCAGCCTGTGCAGA	0.552000														94			21		0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74595911	74595911	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74595911C>A	uc002skx.3	-	15	2116	c.1798G>T	c.(1798-1800)Ggt>Tgt	p.G600C	DCTN1_uc002skv.3_Missense_Mutation_p.G466C|DCTN1_uc002sku.3_Missense_Mutation_p.G466C|DCTN1_uc002skw.2_Missense_Mutation_p.G593C|DCTN1_uc010ffd.3_Missense_Mutation_p.G580C|DCTN1_uc002sky.3_Missense_Mutation_p.G563C	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	600					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TGGTCCCCACCTGGCCGAAGG	0.522000														172			30		3.73148e-12	4.28986e-12	1	1	0
JTB	10899	broad.mit.edu	37	1	153947167	153947167	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153947167G>A	uc001fds.3	-	4	1152	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_006694	NP_006685	O76095	JTB_HUMAN	Homo sapiens jumping translocation breakpoint (JTB), mRNA.	143					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATATGGACTCGATTTGCTTCC	0.478000														223			18		0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50671771	50671771	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50671771C>T	uc003bkb.1	-	2	1602	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	TUBGCP6_uc010har.1_Missense_Mutation_p.V364M|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	364					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGCAGACACGACCCCAATC	0.642000														63			13		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380642	3380642	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380642G>A	uc001lxt.3	-	5	1778	c.1596C>T	c.(1594-1596)acC>acT	p.T532T	ZNF195_uc010qxr.2_Silent_p.T513T|ZNF195_uc009ydz.3_Silent_p.T487T|ZNF195_uc001lxu.3_Silent_p.T464T|ZNF195_uc001lxv.3_Silent_p.T509T|ZNF195_uc021qck.1_Silent_p.T464T|ZNF195_uc001lxs.3_Silent_p.T460T	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGGAGGACTGGGTAAAGTTTT	0.408000														167			12		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881731	228881731	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881731G>A	uc002vpq.2	-	6	3886	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A1280V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1280V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1280						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)		GGATGAGGACGCGCTACTGAC	0.512000														181			17		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50187865	50187865	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50187865C>T	uc011arg.2	-	6	2337	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	BRD1_uc011arf.2_Missense_Mutation_p.D321N|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.D726N|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.D726N	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	726					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)		CAGGTGAGGTCGAGCATGTCC	0.592000														180			30		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200959456	200959456	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200959456C>A	uc001gvs.2	-	19	3157	c.2840G>T	c.(2839-2841)aGg>aTg	p.R947M	KIF21B_uc009wzl.2_Missense_Mutation_p.R947M|KIF21B_uc001gvr.2_Missense_Mutation_p.R947M|KIF21B_uc010ppn.2_Missense_Mutation_p.R947M	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	947					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTCCTCCCTTTTCTGGGG	0.637000														48			13		5.50884e-06	5.8131e-06	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48699383	48699383	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48699383C>A	uc003cuf.1	-	2	895	c.895G>T	c.(895-897)Gcc>Tcc	p.A299S	CELSR3_uc003cul.3_Missense_Mutation_p.A229S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	229					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCCGGGGGGCTGTCCTTTCT	0.652000														298			13		4.93089e-13	5.72934e-13	1	1	0
EFCAB7	84455	broad.mit.edu	37	1	64027454	64027454	+	Nonsense_Mutation	SNP	C	T	T	rs144850202	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64027454C>T	uc001dbf.3	+	10	1717	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	475							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AGCTAATGATCGAGAAGGAGA	0.353000														53			9		0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551412	157551412	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157551412G>A	uc001fqw.3	-	6	1294	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	386						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CGGCGACAAGGCCATCTCTGT	0.582000														54			27		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45104190	45104190	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45104190C>T	uc003tms.3	+	3	551	c.480C>T	c.(478-480)atC>atT	p.I160I	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.I139I|CCM2_uc003tmp.3_Silent_p.I81I|CCM2_uc003tmr.3_Silent_p.I139I|CCM2_uc011kcb.2_Silent_p.I102I|CCM2_uc011kcc.2_Silent_p.I132I	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	139	PID.				endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TCCATGACATCGCCGCCGTCT	0.597000														56			15		0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74709292	74709292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74709292C>T	uc002fdb.2	-	8	1642	c.1201G>A	c.(1201-1203)Gtc>Atc	p.V401I	MLKL_uc002fdc.2_Silent_p.S182S	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	401	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCCCAGAGGACGATTCCAAAG	0.483000														113			38		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645126	53645126	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645126A>G	uc002qbc.2	-	4	1385	c.958T>C	c.(958-960)Tgt>Cgt	p.C320R	ZNF347_uc002qbb.2_Missense_Mutation_p.C319R|ZNF347_uc010eql.2_Missense_Mutation_p.C320R	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACTCATTACATTTGTAACGT	0.383000														192			23		0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23353936	23353936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23353936C>T	uc001whf.1	+	1	222	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	REM2_uc010tnd.1_Missense_Mutation_p.R45W	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	53					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGTTGGACCGGAGCGGGTT	0.547000														117			19		0	0	1	0	0
NR0B1	190	broad.mit.edu	37	X	30327309	30327309	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30327309G>A	uc004dcf.4	-	0	187	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	58	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|RNA binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GCCACGTTCCGCCCGCCCAGC	0.662000														78			9		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25507115	25507115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25507115G>A	uc002wux.1	-	1	183	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F	NINL_uc010gdn.1_Missense_Mutation_p.L37F|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Missense_Mutation_p.L53F	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	37	EF-hand 1.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TGAAGCTTAAGGCAGAGCTGG	0.572000														280			64		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6238932	6238932	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6238932A>G	uc001mck.4	-	8	2285	c.1926T>C	c.(1924-1926)ggT>ggC	p.G642G	FAM160A2_uc001mcl.4_Silent_p.G628G|FAM160A2_uc001mcm.2_Silent_p.G628G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	628					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.P641R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGGGCAGGTGACCAGGGccct	0.667000														68			20		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5464772	5464772	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5464772C>T	uc003jdm.4	+	12	5547	c.5325C>T	c.(5323-5325)ctC>ctT	p.L1775L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1775										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ATATTCAACTCACACGAGGTC	0.483000														42			5		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82835411	82835411	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82835411C>A	uc003kii.3	+	7	6945	c.6589C>A	c.(6589-6591)Cct>Act	p.P2197T	VCAN_uc003kij.3_Missense_Mutation_p.P1210T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.P861T	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2197	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CACAACTCTCCCTGAAGCTAC	0.373000														136			21		0.00152264	0.00155606	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165715084	165715084	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715084C>T	uc003qum.4	-	1	763	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	243								p.A242A(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCGTGGCCCGCGGCCGCCTTG	0.607000														191			44		0	0	1	0	0
AURKA	6790	broad.mit.edu	37	20	54945360	54945360	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54945360C>T	uc002xxe.1	-	9	1323	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	AURKA_uc002xxf.1_Missense_Mutation_p.A356T|AURKA_uc002xxg.1_Missense_Mutation_p.A356T|AURKA_uc002xxh.1_Missense_Mutation_p.A356T|AURKA_uc002xxi.1_Missense_Mutation_p.A356T|AURKA_uc002xxj.1_Missense_Mutation_p.A356T|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.A356T	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	356	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			AGGTCCCTGGCTCCCTCTGTT	0.413000														81			27		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55076936	55076936	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55076936G>A	uc003jqg.4	+	8	638	c.539G>A	c.(538-540)gGc>gAc	p.G180D	DDX4_uc010ivz.3_Missense_Mutation_p.G160D|DDX4_uc003jqh.4_Missense_Mutation_p.G146D|DDX4_uc003jqj.3_Missense_Mutation_p.G47D	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	180	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGCACTGGTGGCCTTTTTGGT	0.338000														84			17		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650124	232650124	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650124C>T	uc001hvg.3	-	0	1120	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	321					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)				ATTCCAAGGGCGAATGCCCCT	0.468000														127			31		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	124783243	124783243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:124783243C>T	uc010flu.3	+	0	380	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	CNTNAP5_uc002tno.3_Missense_Mutation_p.R6W	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	6					cell adhesion|signal transduction	integral to membrane	receptor binding	p.R6R(1)|p.R6Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCTTTACCACGGCTGACCAG	0.552000														138			19		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53254332	53254332	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53254332G>A	uc002lga.3	-	2	382	c.322C>T	c.(322-324)Cga>Tga	p.R108*	TCF4_uc010xdx.1_5'Flank|TCF4_uc021ukj.1_Nonsense_Mutation_p.R6*|TCF4_uc021ukk.1_Nonsense_Mutation_p.R6*|TCF4_uc021ukl.1_Intron|TCF4_uc002lfz.2_Nonsense_Mutation_p.R6*|TCF4_uc010dph.1_Nonsense_Mutation_p.R6*|TCF4_uc010dpi.3_Nonsense_Mutation_p.R6*|TCF4_uc010xdy.1_Intron|TCF4_uc021uko.1_Non-coding_Transcript|TCF4_uc021ukp.1_Intron	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	6					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCAGCCATTCGCTGTTGGTGA	0.423000														66			5		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780058	15780058	+	Silent	SNP	C	T	T	rs142149974	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15780058C>T	uc003gol.1	+	0	128	c.21C>T	c.(19-21)agC>agT	p.S7S	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	7					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCGAGTTCAGCCCGGTGTCCG	0.647000														261			64		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812700	31812700	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812700C>A	uc002yod.3	+	0	55	c.55C>A	c.(55-57)Ctg>Atg	p.L19M		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	19						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGGAAGTTACCTGAGGTATCC	0.463000														106			11		1.33987e-11	1.52969e-11	1	1	0
DAGLA	747	broad.mit.edu	37	11	61498802	61498802	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61498802G>A	uc001nsa.3	+	8	979	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	288					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GAGATGCTCCGCTACAAAGAG	0.632000														186			37		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163589	141163589	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163589G>A	uc010hup.3	+	1	2409	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	ZBTB38_uc003etw.3_Missense_Mutation_p.E787K|ZBTB38_uc010hun.3_Missense_Mutation_p.E784K|ZBTB38_uc010huo.3_Missense_Mutation_p.E787K|ZBTB38_uc003ety.3_Missense_Mutation_p.E787K|ZBTB38_uc021xes.1_Missense_Mutation_p.E787K	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	787					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TACCAGGGGAGAAATACCGGA	0.428000														56			10		0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30686168	30686168	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30686168C>T	uc022buj.1	+	2	371	c.192C>T	c.(190-192)gtC>gtT	p.V64V	GK_uc004dch.4_Silent_p.V64V|GK_uc010ngj.3_Silent_p.V64V|GK_uc004dci.4_Silent_p.V64V|GK_uc011mjz.2_5'UTR|GK_uc011mka.2_Intron|GK_uc010ngk.3_Intron	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	64					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						TACATTCTGTCTATGAGTGTA	0.313000														44			7		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24838944	24838944	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24838944C>T	uc001wpc.3	+	1	661	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	NFATC4_uc010alr.3_Missense_Mutation_p.P177S|NFATC4_uc010tok.2_Missense_Mutation_p.P177S|NFATC4_uc010tol.2_Missense_Mutation_p.P177S|NFATC4_uc010als.2_Missense_Mutation_p.P127S|NFATC4_uc010too.2_Missense_Mutation_p.P127S|NFATC4_uc010tom.2_Missense_Mutation_p.P127S|NFATC4_uc010ton.2_Missense_Mutation_p.P127S|NFATC4_uc010toq.2_Missense_Mutation_p.P146S|NFATC4_uc010alt.3_Missense_Mutation_p.P146S|NFATC4_uc010top.2_Missense_Mutation_p.P146S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P114S|NFATC4_uc010tos.2_Missense_Mutation_p.P44S|NFATC4_uc010tot.2_Missense_Mutation_p.P102S|NFATC4_uc010tou.2_Missense_Mutation_p.P44S|NFATC4_uc010tov.2_Missense_Mutation_p.P102S|NFATC4_uc010tow.2_Missense_Mutation_p.P44S|NFATC4_uc010alv.3_Missense_Mutation_p.P102S|NFATC4_uc010tox.2_Missense_Mutation_p.P44S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	114	Calcineurin-binding.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCGAGTGTCCCAGCATCCG	0.687000														72			14		0	0	1	0	0
HSF4	3299	broad.mit.edu	37	16	67199722	67199722	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67199722G>A	uc002erl.2	+	4	1298	c.333G>A	c.(331-333)gaG>gaA	p.E111E	HSF4_uc002erm.2_Silent_p.E111E|HSF4_uc002ern.1_Non-coding_Transcript|HSF4_uc010cec.1_Non-coding_Transcript	NM_001040667	NP_001035757	Q9ULV5	HSF4_HUMAN	Homo sapiens heat shock transcription factor 4 (HSF4), transcript variant 2, mRNA.	111					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		GCGGCCGCGAGCAGCTACTGG	0.687000														78			12		0	0	1	0	0
HOMER1	9456	broad.mit.edu	37	5	78692711	78692711	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78692711T>G	uc003kfy.3	-	7	1914	c.811A>C	c.(811-813)Aaa>Caa	p.K271Q	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Missense_Mutation_p.K141Q|HOMER1_uc010jad.3_Missense_Mutation_p.K97Q	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	271					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		ATTTCTTGTTTTAACCTTTCT	0.348000														19			3		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66259196	66259196	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66259196C>T	uc001oig.1	+	8	1019	c.957C>T	c.(955-957)cgC>cgT	p.R319R	DPP3_uc001oif.1_Silent_p.R319R|DPP3_uc010rpe.1_Silent_p.R308R	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	319					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity	p.Y318Y(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						AGAGCTACCGCGACCCCTTTG	0.612000														376			87		0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46663544	46663544	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46663544C>A	uc001cpg.3	-	2	602	c.-49_splice	c.e2-1		POMGNT1_uc010olx.2_5'Flank|POMGNT1_uc010oly.2_5'Flank|POMGNT1_uc010olz.2_5'Flank|POMGNT1_uc001cpe.3_Splice_Site|POMGNT1_uc001cpf.3_Splice_Site|POMGNT1_uc001cpj.3_5'UTR	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.						protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					CTTCAGGAATCTGAAGGGACC	0.592000														88			21		8.34094e-07	8.90579e-07	1	1	0
IGFBP5	3488	broad.mit.edu	37	2	217543756	217543756	+	Silent	SNP	G	A	A	rs146074282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217543756G>A	uc002vgj.4	-	1	1158	c.384C>T	c.(382-384)gcC>gcT	p.A128A		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	128					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTCTCCTCGGCCATCTCAG	0.632000														147			8		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576801	28576801	+	Missense_Mutation	SNP	T	G	G	rs115171596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28576801T>G	uc002kwj.4	-	14	2604	c.2449A>C	c.(2449-2451)Act>Cct	p.T817P	DSC3_uc002kwi.4_Missense_Mutation_p.T817P	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	817					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCCGAGTAAGTGTATCTGCAG	0.507000														103			19		0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10239412	10239412	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10239412T>G	uc003jeo.2	-	1	102	c.73A>C	c.(73-75)Agt>Cgt	p.S25R	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Missense_Mutation_p.S25R	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	25						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						ACTTCAAAACTTGCAGGTAGA	0.463000														148			42		0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148017572	148017572	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148017572C>T	uc001eqq.3	-	5	743	c.711G>A	c.(709-711)tcG>tcA	p.S237S	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqf.3_Silent_p.S577S|NBPF14_uc001eqg.3_Intron|FLJ39739_uc001eqo.1_Intron|NBPF14_uc021ovz.1_Intron|NBPF14_uc021owa.1_Intron|NBPF14_uc021owb.1_Intron|NBPF14_uc021owc.1_Intron|NBPF14_uc021owe.1_Silent_p.S116S|NBPF14_uc021owf.1_Intron|NBPF14_uc021owg.1_Intron|NBPF14_uc021owh.1_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc021owd.1_Silent_p.S116S	NM_015383	NP_056198	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 14 (NBPF14), mRNA.	237	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					AAGACTTGTACGAGGCCAACA	0.478000														562			29		0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50303569	50303569	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50303569C>T	uc003biy.3	-	4	911	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	213					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGGGACGGCGTGGCGAAGG	0.522000														106			21		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116381004	116381004	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116381004C>T	uc003vij.3	+	4	1813	c.1626C>T	c.(1624-1626)caC>caT	p.H542H	MET_uc022akk.1_Silent_p.H542H|MET_uc010lkh.3_Silent_p.H542H|MET_uc011knc.1_Silent_p.H542H|MET_uc011knd.2_Silent_p.H542H|MET_uc011knf.2_Silent_p.H542H|MET_uc011kne.2_Silent_p.H514H|MET_uc011kng.1_Silent_p.H542H|MET_uc011knh.1_Silent_p.H542H|MET_uc011kni.2_Silent_p.H542H|MET_uc011knj.2_Silent_p.H112H|MET_uc011knb.1_Silent_p.H542H	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	542					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCTGGTGCCACGACAAATGTG	0.522000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					197			44		0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950046	56950046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56950046G>A	uc001njl.2	+	0	826	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	197	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCTCTTGAGGGCCTACCGGG	0.652000														237			16		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146214434	146214434	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146214434A>G	uc003qlf.3	-	27	5190	c.4791T>C	c.(4789-4791)acT>acC	p.T1597T	SHPRH_uc003qle.3_Silent_p.T1601T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1597	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AGAGAACATGAGTTGCTTCAA	0.443000														67			11		0	0	1	0	0
RBM8A	9939	broad.mit.edu	37	1	145508545	145508545	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145508545A>C	uc001ent.2	+	3	386	c.276A>C	c.(274-276)aaA>aaC	p.K92N	RBM8A_uc001enu.2_Missense_Mutation_p.K91N	NM_005105	NP_005096	Q9Y5S9	RBM8A_HUMAN	Homo sapiens RNA binding motif protein 8A (RBM8A), mRNA.	92	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	mRNA binding|nucleotide binding|protein binding			kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACACGACAAATTCGCAGAAT	0.453000														97			47		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15307260	15307260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15307260G>A	uc002rcc.1	-	51	7054	c.7028C>T	c.(7027-7029)gCc>gTc	p.A2343V	NBAS_uc002rcb.1_Missense_Mutation_p.A183V|NBAS_uc010exl.1_Missense_Mutation_p.A1415V|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2343										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGAGACCCGGCTTCGGCTTC	0.647000														139			41		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148049205	148049205	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148049205C>T	uc004fcp.3	+	14	3729	c.3250C>T	c.(3250-3252)Cac>Tac	p.H1084Y	AFF2_uc004fcq.3_Missense_Mutation_p.H1074Y|AFF2_uc004fcr.3_Missense_Mutation_p.H1045Y|AFF2_uc011mxb.2_Missense_Mutation_p.H1049Y|AFF2_uc004fcs.3_Missense_Mutation_p.H1049Y|AFF2_uc011mxc.2_Missense_Mutation_p.H725Y	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1084					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGCTGAAGCACAAAGCTGA	0.338000														50			14		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934573	113934573	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113934573G>A	uc001pop.3	+	1	815	c.551G>A	c.(550-552)aGc>aAc	p.S184N	ZBTB16_uc001poo.1_Missense_Mutation_p.S184N|ZBTB16_uc001poq.3_Missense_Mutation_p.S184N	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	184					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		GTGGACCAGAGCCCTTCAGTC	0.552000														126			25		0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139229123	139229123	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139229123G>A	uc004chd.2	+	1	508	c.288G>A	c.(286-288)gcG>gcA	p.A96A	GPSM1_uc004chc.3_Silent_p.A96A	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	96	Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TCCTGCTGGCGCGGTGAGTGG	0.682000														123			19		0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207238421	207238421	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207238421G>T	uc001hfg.3	+	7	657	c.548G>T	c.(547-549)aGa>aTa	p.R183I	PFKFB2_uc010psc.2_Missense_Mutation_p.R85I|PFKFB2_uc001hfh.3_Missense_Mutation_p.R183I|PFKFB2_uc009xcc.3_Missense_Mutation_p.R141I|PFKFB2_uc010psd.2_5'UTR	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	183	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GAAAGGAACAGAGAGAACGTG	0.463000														75			22		2.27731e-05	2.38354e-05	1	1	0
PHLPP2	23035	broad.mit.edu	37	16	71692594	71692594	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71692594T>C	uc002fax.3	-	12	2116	c.2110A>G	c.(2110-2112)Agc>Ggc	p.S704G	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.S637G	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	704						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGGAAAATGCTGATGTTGTTG	0.458000														136			38		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14485295	14485295	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485295C>T	uc003jff.3	+	46	6781	c.6775C>T	c.(6775-6777)Cgg>Tgg	p.R2259W	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.R1908W	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2259	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCAAGTGTCCGGCAAACTTG	0.403000														138			22		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786553	99786553	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99786553G>A	uc003utx.1	+	6	784	c.629G>A	c.(628-630)gGc>gAc	p.G210D	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.G152D	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	210					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCTATGATGGCTTCCCTATG	0.542000														179			42		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56098049	56098049	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56098049G>A	uc002rzi.3	-	11	1626	c.1125_splice	c.e11-1	p.N375_splice	EFEMP1_uc002rzj.3_Splice_Site_p.N375_splice|EFEMP1_uc010ypc.2_Splice_Site_p.N237_splice	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	375	EGF-like 6; calcium-binding (Potential).|Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAACACATCGGCTGCAGAGA	0.433000														79			25		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64456834	64456834	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64456834C>T	uc010ssp.1	+	6	995	c.939C>T	c.(937-939)agC>agT	p.S313S	SRGAP1_uc001srt.3_Silent_p.S313S|SRGAP1_uc001srv.2_Silent_p.S273S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	313					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AGCCCAGGAGCGATAAGCAGA	0.443000														102			23		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24820880	24820880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24820880C>T	uc001iru.4	+	14	3607	c.3204C>T	c.(3202-3204)ggC>ggT	p.G1068G	KIAA1217_uc001irs.3_Silent_p.G988G|KIAA1217_uc001irt.4_Silent_p.G1033G|KIAA1217_uc010qcy.2_Silent_p.G1032G|KIAA1217_uc010qcz.2_Silent_p.G1033G|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.G751G|KIAA1217_uc001irz.3_Silent_p.G751G|KIAA1217_uc001irx.3_Silent_p.G751G|KIAA1217_uc001iry.3_Silent_p.G751G	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1068					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAGGTCAGGCGATGTGGTCT	0.577000														88			12		0	0	1	0	0
LAP3	51056	broad.mit.edu	37	4	17583965	17583965	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17583965G>A	uc003gph.1	+	3	490	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	LAP3_uc010ieg.3_Intron	NM_015907	NP_056991	P28838	AMPL_HUMAN	Homo sapiens leucine aminopeptidase 3 (LAP3), mRNA.	110					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						TGGAATCGACGAACAGGAAAA	0.443000														50			12		0	0	1	0	0
SLC47A2	146802	broad.mit.edu	37	17	19618448	19618448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19618448G>A	uc002gwe.4	-	1	381	c.206C>T	c.(205-207)tCg>tTg	p.S69L	SLC47A2_uc002gwg.4_Missense_Mutation_p.S69L|SLC47A2_uc002gwf.4_Missense_Mutation_p.S69L|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_5'Flank	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	69						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GAGGGTCACCGATGCCAGCTC	0.637000														194			35		0	0	1	0	0
CLEC4E	26253	broad.mit.edu	37	12	8691851	8691851	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8691851T>G	uc001quo.1	-	2	347	c.182A>C	c.(181-183)gAg>gCg	p.E61A		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	61						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TGTGAAATTCTCAGGTAGCTG	0.348000														123			29		0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545602	211545602	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211545602C>T	uc010psx.2	+	10	1350	c.1265C>T	c.(1264-1266)aCa>aTa	p.T422I	TRAF5_uc001hih.3_Missense_Mutation_p.T411I|TRAF5_uc001hii.3_Missense_Mutation_p.T411I|TRAF5_uc010psy.2_Missense_Mutation_p.T305I|TRAF5_uc001hij.3_Missense_Mutation_p.T411I	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	411	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGAAGGTGACAGATTACAAG	0.468000														233			90		0	0	1	0	0
ZNF441	126068	broad.mit.edu	37	19	11892674	11892674	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11892674G>A	uc010dyj.3	+	3	2229	c.2035G>A	c.(2035-2037)Gca>Aca	p.A679T	ZNF441_uc002msn.4_Missense_Mutation_p.A635T	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTGGGGAAGCATTTCATTG	0.393000														46			4		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	26227791	26227791	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26227791G>T	uc003xeu.3	+	9	1535	c.1206G>T	c.(1204-1206)aaG>aaT	p.K402N	DOCK5_uc003xek.3_Missense_Mutation_p.K403N|DOCK5_uc011laf.2_Missense_Mutation_p.K412N|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	461						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAGTGGCAAGCGAAAGAAAG	0.448000														72			6		0.0215528	0.0217347	1	1	0
ZNF880	400713	broad.mit.edu	37	19	52887625	52887625	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52887625A>G	uc002pzc.3	+	3	841	c.792A>G	c.(790-792)ggA>ggG	p.G264G	ZNF880_uc021uyu.1_Silent_p.G264G|ZNF880_uc021uyv.1_5'Flank	NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	Homo sapiens zinc finger protein 880 (ZNF880), mRNA.	264					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TACATACTGGAGAGAAACCTT	0.398000														35			12		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599539	3599539	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599539G>T	uc003jde.3	+	1	529	c.477G>T	c.(475-477)gaG>gaT	p.E159D		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	159						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E159K(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGGGCGAGAAGATCATGC	0.637000														246			40		1.03484e-13	1.20887e-13	1	1	0
PCSK4	54760	broad.mit.edu	37	19	1488000	1488000	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1488000C>A	uc002ltb.1	-	3	541	c.479G>T	c.(478-480)gGc>gTc	p.G160V	PCSK4_uc002lta.2_Missense_Mutation_p.A2S	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	160	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCGATGCCATCGTCCAG	0.677000														302			66		1.72039e-30	2.16676e-30	1	1	0
HR	55806	broad.mit.edu	37	8	21982977	21982977	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982977C>A	uc003xas.3	-	4	2262	c.1597G>T	c.(1597-1599)Gcc>Tcc	p.A533S	HR_uc003xat.3_Missense_Mutation_p.A533S	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	533							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GAGTTGGTGGCTGTGTCTTCC	0.677000														70			15		6.31663e-08	6.86475e-08	1	1	0
ACSBG1	23205	broad.mit.edu	37	15	78475047	78475047	+	Splice_Site	SNP	C	T	T	rs138877360		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78475047C>T	uc002bdh.3	-	6	950	c.744_splice	c.e6+1	p.T248_splice	ACSBG1_uc010umx.2_Splice_Site_p.T6_splice|ACSBG1_uc010umw.2_Splice_Site_p.T244_splice|ACSBG1_uc010umy.2_Splice_Site_p.T141_splice	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	248					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGCCCATACCGTGTACACAT	0.532000														266			50		0	0	1	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463381	123463381	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463381C>A	uc001uea.1	+	5	634	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	OGFOD2_uc001uds.1_Missense_Mutation_p.L41M|OGFOD2_uc001udv.1_Missense_Mutation_p.L41M|OGFOD2_uc001udt.1_Missense_Mutation_p.L41M|OGFOD2_uc001udu.1_Missense_Mutation_p.L41M|OGFOD2_uc009zxs.1_Missense_Mutation_p.L41M|OGFOD2_uc001udw.1_Missense_Mutation_p.L41M|OGFOD2_uc001udy.1_Missense_Mutation_p.L41M|OGFOD2_uc001udz.1_Missense_Mutation_p.L145M|OGFOD2_uc001ueb.1_Missense_Mutation_p.L41M|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	205							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	GATGGCCCTGCTGTACCCTGA	0.667000														68			11		7.93312e-07	8.47869e-07	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115928378	115928378	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115928378C>T	uc004bgs.2	-	27	3793	c.3640G>A	c.(3640-3642)Gac>Aac	p.D1214N	FKBP15_uc004bgr.2_Missense_Mutation_p.D651N|FKBP15_uc011lxc.1_Missense_Mutation_p.D795N	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1214	Poly-Asp.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CAGTCAATGTCATCGTCATCA	0.527000														33			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208640	140208640	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140208640G>A	uc003lho.2	+	0	991	c.964G>A	c.(964-966)Gcc>Acc	p.A322T	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_uc003lhn.2_Missense_Mutation_p.A322T|PCDHAC2_uc011dab.2_Missense_Mutation_p.A322T	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	337	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCATTGACGCCACGGACAA	0.413000														140			31		0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18387396	18387396	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18387396C>T	uc001moi.2	+	15	2321	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	GTF2H1_uc001moh.2_Missense_Mutation_p.R543C|GTF2H1_uc009yhm.2_Missense_Mutation_p.R427C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	543					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCAGTCACGGCGTCTGATGAA	0.483000								Nucleotide excision repair (NER)						48			9		0	0	1	0	0
C14orf21	161424	broad.mit.edu	37	14	24772330	24772330	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24772330C>T	uc001wol.1	+	5	1257	c.1194C>T	c.(1192-1194)gcC>gcT	p.A398A	C14orf21_uc001wom.1_5'UTR	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	398							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CTGTATTGGCCCAGGGCCACC	0.572000														126			18		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30638717	30638717	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30638717C>A	uc003nqz.3	-	2	671	c.459G>T	c.(457-459)caG>caT	p.Q153H	DHX16_uc011dmo.2_Missense_Mutation_p.Q93H	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	153					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TCTCTGTCTGCTGTTTACTCC	0.562000														197			33		3.11337e-16	3.70767e-16	1	1	0
ZNF193	7746	broad.mit.edu	37	6	28195016	28195016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195016C>T	uc010jqz.2	+	1	343	c.154C>T	c.(154-156)Cga>Tga	p.R52*	ZNF193_uc003nkr.2_Nonsense_Mutation_p.R52*|ZNF193_uc003nkq.2_Nonsense_Mutation_p.R52*	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	52	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						GGAAATCTTCCGAAGGCACTT	0.498000														89			21		0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124509617	124509617	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124509617C>T	uc001qan.3	-	7	1286	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_uc021qru.1_Silent_p.S336S	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468000														148			43		0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018743	58018743	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018743G>A	uc002qox.3	+	3	1420	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	ZNF773_uc002qoy.3_Missense_Mutation_p.S426N|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TTTCGCCACAGCTCCAGTCTT	0.413000														113			27		0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170103014	170103014	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170103014C>T	uc011egx.2	+	1	542	c.516C>T	c.(514-516)ggC>ggT	p.G172G	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_Silent_p.G153G	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	Homo sapiens chromosome 6 open reading frame 120 (C6orf120), mRNA.	153						extracellular region				endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		CCGCCGACGGCGCAGATGCCG	0.607000														53			14		0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66043694	66043694	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043694C>T	uc001ohf.3	+	5	686	c.591C>T	c.(589-591)ggC>ggT	p.G197G	AK125412_uc001ohg.1_Intron|CNIH2_uc001ohi.1_5'Flank|CNIH2_uc009yrb.1_5'Flank	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	197					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGCCGGCTGGCGGTGGCTGTT	0.632000														24			11		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72582592	72582592	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72582592G>A	uc002aui.2	-	2	1178	c.717C>T	c.(715-717)gaC>gaT	p.D239D	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc010ukl.1_Silent_p.D18D|CELF6_uc010biw.2_Silent_p.D20D|CELF6_uc002auh.2_Silent_p.D133D|CELF6_uc010ukm.1_Silent_p.D133D|CELF6_uc002auj.2_Silent_p.D20D	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	133					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						ACAGCTTTCGGTCCTCTGGGG	0.602000														46			10		0	0	1	0	0
HSPB8	26353	broad.mit.edu	37	12	119631653	119631653	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119631653C>T	uc001txb.3	+	2	1104	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	194					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGAAGTCACCTGTACCTGA	0.507000														105			20		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703517	88703517	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703517T>G	uc001kea.3	-	5	1151	c.1024A>C	c.(1024-1026)Aag>Cag	p.K342Q	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.K299Q	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	342						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGCCTTGTGCAGCCTC	0.647000														114			36		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	101017623	101017623	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101017623G>A	uc011lvb.2	-	0	381	c.201C>T	c.(199-201)cgC>cgT	p.R67R	TBC1D2_uc004ayq.3_Silent_p.R67R|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	67	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGAAGAACCAGCGGGATTTCC	0.582000														136			17		0	0	1	0	0
ENTPD7	57089	broad.mit.edu	37	10	101460751	101460751	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101460751T>G	uc009xwl.3	+	11	1718	c.1363T>G	c.(1363-1365)Tcg>Gcg	p.S455A	ENTPD7_uc001kqa.4_Missense_Mutation_p.S453A	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	453						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		CATGGCTTGGTCGGTACTAAC	0.453000														281			89		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75276721	75276721	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75276721G>A	uc002fdv.3	-	1	426	c.280C>T	c.(280-282)Cct>Tct	p.P94S	BCAR1_uc010vna.2_Missense_Mutation_p.P92S|BCAR1_uc010cgu.3_Missense_Mutation_p.P94S|BCAR1_uc010vnb.2_Missense_Mutation_p.P140S|BCAR1_uc002fdw.3_Missense_Mutation_p.P94S|BCAR1_uc010vnc.2_Intron|BCAR1_uc010vnd.2_Missense_Mutation_p.P112S|BCAR1_uc002fdx.3_Missense_Mutation_p.P112S	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	94					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAGGCCGGAGGCGCTGGGGCA	0.677000														182			46		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150920160	150920160	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150920160C>T	uc003lue.4	-	9	9020	c.9007G>A	c.(9007-9009)Gac>Aac	p.D3003N		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3003	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCATTGACGTCCAGGACAAAG	0.547000														75			14		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440526	40440526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440526G>A	uc003gvc.2	-	3	1095	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	RBM47_uc003gvd.2_Missense_Mutation_p.R129C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R91C|RBM47_uc003gvg.1_Missense_Mutation_p.R129C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	129	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGAGCTCACGCACTGCGCGC	0.627000														177			33		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63473112	63473112	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63473112G>T	uc001xfx.3	-	2	327	c.276C>A	c.(274-276)tgC>tgA	p.C92*	KCNH5_uc001xfy.3_Nonsense_Mutation_p.C92*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.C34*|KCNH5_uc001xga.3_Nonsense_Mutation_p.C34*	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	92	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GAACTTCAAAGCAGTTTGATT	0.353000														59			8		5.18039e-06	5.47662e-06	1	1	0
MOB3A	126308	broad.mit.edu	37	19	2076822	2076822	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2076822C>A	uc002luu.3	-	1	771	c.612G>T	c.(610-612)gaG>gaT	p.E204D	MOB3A_uc002luv.3_Missense_Mutation_p.E204D	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	204						intracellular	metal ion binding										GTGGCTCCAGCTCCTTGGTGT	0.642000														75			10		7.48243e-07	8.00842e-07	1	1	0
C10orf12	26148	broad.mit.edu	37	10	98741860	98741860	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741860T>G	uc001kmv.3	+	0	820	c.713T>G	c.(712-714)aTt>aGt	p.I238S	C10orf12_uc009xvg.2_Missense_Mutation_p.I548S	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	238										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACCCTTACAATTCCAGCCCCT	0.493000														156			35		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172649	207172649	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172649G>T	uc002vbp.2	+	4	3647	c.3397G>T	c.(3397-3399)Gta>Tta	p.V1133L		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1133							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCAACCCAAAGTAGCTATTAA	0.338000														43			10		0.00621372	0.00630477	1	1	0
CRB2	286204	broad.mit.edu	37	9	126132468	126132468	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132468G>A	uc004bnx.1	+	6	1228	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	CRB2_uc004bnw.1_Missense_Mutation_p.G379D	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	379	EGF-like 8; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						ACTGTGGCAGGCTATATCTGC	0.627000														124			31		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139341761	139341761	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139341761G>A	uc004chx.3	-	26	6924	c.6615C>T	c.(6613-6615)agC>agT	p.S2205S	SEC16A_uc004chp.3_5'Flank|SEC16A_uc004chq.3_Silent_p.S46S|SEC16A_uc011mea.2_Silent_p.S46S|SEC16A_uc004chr.3_Silent_p.S211S|SEC16A_uc004chs.3_Silent_p.S45S|SEC16A_uc004cht.3_Silent_p.S236S|SEC16A_uc004chu.3_Silent_p.S390S|SEC16A_uc004chv.4_Silent_p.S1595S|SEC16A_uc004chw.3_Silent_p.S2205S|SEC16A_uc010nbn.3_Silent_p.S2205S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	2027					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GAGCCGGCTCGCTCCGCTGGG	0.617000														24			3		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78923309	78923309	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78923309C>T	uc002jyt.1	+	27	4137	c.3332C>T	c.(3331-3333)gCg>gTg	p.A1111V	RPTOR_uc010wug.1_Missense_Mutation_p.A953V|RPTOR_uc002jyu.1_Missense_Mutation_p.A4V	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1111					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ATGGTGACCGCGTGGCAGGGG	0.612000														363			72		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	133997159	133997159	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133997159A>T	uc003kzs.3	+	1	740	c.448A>T	c.(448-450)Aac>Tac	p.N150Y	SEC24A_uc021ydr.1_Missense_Mutation_p.N150Y|SEC24A_uc011cxu.2_5'UTR	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	150	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCACAAACAAACCATTGTCC	0.408000														157			8		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262289	167262289	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262289G>A	uc002udu.2	-	24	4980	c.4850C>T	c.(4849-4851)aCg>aTg	p.T1617M	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAAAGTAGTCGTAATTGGCTC	0.378000														232			15		0	0	1	0	0
FBLL1	345630	broad.mit.edu	37	5	167956993	167956993	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167956993G>T	uc011dep.2	+	0	412	c.199G>T	c.(199-201)Ggc>Tgc	p.G67C						Homo sapiens fibrillarin-like 1 (FBLL1), non-coding RNA.																		GGCCATCCTGGGCGGGGTGGA	0.667000														22			9		1.76689e-08	1.93511e-08	1	1	0
SH2D3A	10045	broad.mit.edu	37	19	6760689	6760689	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6760689C>A	uc002mft.3	-	2	573	c.379G>T	c.(379-381)Gac>Tac	p.D127Y	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	127					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						ATCAGGGTGTCCTCGCTAAAG	0.602000														61			15		2.31682e-05	2.42268e-05	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110505909	110505909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110505909C>T	uc003yne.3	+	62	10360	c.10256C>T	c.(10255-10257)aCa>aTa	p.T3419I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3419					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGGACCAATACAGTTTTACAG	0.358000										HNSCC(38;0.096)				30			4		0	0	1	0	0
HNRNPUL2	221092	broad.mit.edu	37	11	62482812	62482812	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62482812G>T	uc001nuw.3	-	13	2432	c.2203C>A	c.(2203-2205)Cga>Aga	p.R735R	HNRNPUL2_uc001nuu.2_Intron	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	735	Tyr-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTGTAGTATCGGTCTCTGTCC	0.552000														145			35		2.09667e-21	2.57328e-21	1	1	0
ACAA1	30	broad.mit.edu	37	3	38175489	38175489	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38175489G>A	uc003cht.3	-	2	484	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	ACAA1_uc003chu.3_Nonsense_Mutation_p.Q93*	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GCCCCAGGCTGCAGCACATTT	0.512000														96			26		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35969425	35969425	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35969425G>T	uc004ddj.3	+	4	900	c.834G>T	c.(832-834)gaG>gaT	p.E278D	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	278										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						ATAGCCCAGAGCCCATAAATT	0.413000														47			8		1.06961e-07	1.15953e-07	1	1	0
ADARB2-AS1	642394	broad.mit.edu	37	10	1569038	1569038	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1569038A>T	uc001ign.3	+	0	214	c.71A>T	c.(70-72)gAg>gTg	p.E24V	ADARB2_uc009xhq.3_Intron					Homo sapiens ADARB2 antisense RNA 1 (non-protein coding) (ADARB2-AS1), non-coding RNA.																		AGGGGTCGTGAGCGGGCACAG	0.582000														115			26		0	0	1	0	0
FZD9	8326	broad.mit.edu	37	7	72849343	72849343	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849343C>T	uc003tyb.3	+	0	1235	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	336					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGTCCTGACGCTCACCTGGTT	0.647000														197			35		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116577810	116577810	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116577810T>G	uc001egb.4	+	6	1077	c.947T>G	c.(946-948)tTt>tGt	p.F316C		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	316					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATTGCAGGTTTGTGTGCAGC	0.443000														91			28		0	0	1	0	0
B9D2	80776	broad.mit.edu	37	19	41860620	41860620	+	Silent	SNP	G	A	A	rs143680317	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41860620G>A	uc002oqj.2	-	3	733	c.513C>T	c.(511-513)taC>taT	p.Y171Y	TGFB1_uc002oqh.2_5'Flank|BCKDHA_uc002oqi.3_Intron	NM_030578	NP_085055	Q9BPU9	B9D2_HUMAN	Homo sapiens B9 protein domain 2 (B9D2), mRNA.	171					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						ACTCCACGCCGTAGCGGTCGA	0.637000														132			22		0	0	1	0	0
KLRC1	3821	broad.mit.edu	37	12	10603785	10603785	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10603785C>T	uc001qyl.3	-	2	184	c.-30_splice	c.e2-1		KLRC1_uc009zhm.2_Splice_Site|KLRC1_uc001qym.3_Splice_Site|KLRC1_uc001qyn.3_Splice_Site|KLRC1_uc001qyo.3_Splice_Site	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						AGGGACTGTACTCTATAATAA	0.418000														42			10		0	0	1	0	0
GABARAPL2	11345	broad.mit.edu	37	16	75600792	75600792	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75600792C>T	uc002fen.3	+	1	213	c.77C>T	c.(76-78)cCc>cTc	p.P26L	GABARAPL2_uc010cgy.3_Non-coding_Transcript	NM_007285	NP_009216	P60520	GBRL2_HUMAN	Homo sapiens GABA(A) receptor-associated protein-like 2 (GABARAPL2), mRNA.	26					autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport	Golgi membrane|autophagic vacuole membrane|cytosol|membrane fraction	ATPase binding|GABA receptor binding|SNARE binding|beta-tubulin binding|microtubule binding			lung(1)|ovary(1)	2						GCGAAATATCCCGACAGGGTT	0.627000														104			38		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739804	38739804	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38739804G>A	uc003ciq.3	-	26	4907	c.4907C>T	c.(4906-4908)gCt>gTt	p.A1636V		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1636					sensory perception	voltage-gated sodium channel complex		p.E1635A(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GTCGATGCCAGCCTCCCACCT	0.562000														249			69		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229127	21229127	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229127A>C	uc002red.3	-	25	10741	c.10613T>G	c.(10612-10614)aTt>aGt	p.I3538S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3538					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GATATCATCAATTTTGGAAGT	0.433000														165			52		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6184720	6184720	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6184720C>A	uc001amb.2	-	30	4506	c.4395_splice	c.e30-1	p.R1465_splice	CHD5_uc001alz.2_Splice_Site_p.R322_splice|CHD5_uc001ama.2_Splice_Site|CHD5_uc001amc.1_Splice_Site	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1465					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GACACATAGGCTCTGGGGTGG	0.692000														10			5		0.014758	0.0149061	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43939382	43939382	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43939382A>G	uc010yny.2	+	14	2403	c.2320A>G	c.(2320-2322)Aca>Gca	p.T774A	PLEKHH2_uc002rte.3_3'UTR|PLEKHH2_uc002rtf.3_Missense_Mutation_p.T773A	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	774	PH 1.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAAAAACACACATACTATCT	0.383000														142			32		0	0	1	0	0
TEF	7008	broad.mit.edu	37	22	41790200	41790200	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41790200C>T	uc011apa.2	+	2	677	c.591C>T	c.(589-591)ctC>ctT	p.L197L	TEF_uc003azx.3_Silent_p.L162L|TEF_uc021wqe.1_Silent_p.L86L|TEF_uc003azy.3_Silent_p.L192L	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	192	Pro-rich (proline/acidic region (PAR)).				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGGTGCTCTCCAGTGTGC	0.567000														220			32		0	0	1	0	0
PGLYRP2	114770	broad.mit.edu	37	19	15580712	15580712	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15580712A>G	uc002nbg.3	-	3	1505	c.1372T>C	c.(1372-1374)Tac>Cac	p.Y458H	PGLYRP2_uc002nbf.4_Missense_Mutation_p.Y458H	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	458					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CGTCCCTCGTACACGTAGCCG	0.706000														41			6		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846775	7846775	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7846775T>G	uc010rbg.2	-	0	745	c.745A>C	c.(745-747)Act>Cct	p.T249P		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGAACAGAGTGACTGCAGTG	0.507000														133			21		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140331021	140331021	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140331021G>A	uc004cmw.3	-	5	922	c.738C>T	c.(736-738)tgC>tgT	p.C246C	ENTPD8_uc004cmx.3_Silent_p.C246C|ENTPD8_uc004cmy.2_3'UTR	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	246						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		CCCGTCCAAAGCACAGGTAGC	0.632000														28			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141208170	141208170	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141208170A>G	uc002tvj.1	-	62	10996	c.10024T>C	c.(10024-10026)Tgt>Cgt	p.C3342R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3342	LDL-receptor class A 21.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3341Y(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)		CCATCACCACAGTCATCCACG	0.358000										TSP Lung(27;0.18)				76			30		0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87013442	87013442	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87013442G>A	uc001pch.3	+	7	858	c.656G>A	c.(655-657)aGa>aAa	p.R219K	TMEM135_uc010rtt.2_Missense_Mutation_p.R80K|TMEM135_uc001pci.3_Missense_Mutation_p.R197K	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	219						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAACCCGGAAGAATGAATATG	0.368000														89			25		0	0	1	0	0
ZNF296	162979	broad.mit.edu	37	19	45575632	45575632	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45575632G>A	uc002pao.3	-	2	712	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	219					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						CTTGCACGGGGGCTCTTGGCC	0.682000														167			49		0	0	1	0	0
C2orf84	653140	broad.mit.edu	37	2	24413339	24413339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24413339G>A	uc002rfc.3	+	5	546	c.460G>A	c.(460-462)Gac>Aac	p.D154N	C2orf84_uc010eyc.3_Non-coding_Transcript	NM_001040710	NP_001035800	Q86W67	CB084_HUMAN	Homo sapiens chromosome 2 open reading frame 84 (C2orf84), mRNA.	154								p.D154N(2)|p.A153A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|pancreas(1)|stomach(1)	9						AAAGACGGCCGACCTAAGTCA	0.458000														99			24		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120795700	120795700	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120795700C>T	uc003you.3	-	15	2303	c.2033G>A	c.(2032-2034)cGg>cAg	p.R678Q		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	678					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GAGTGCAAGCCGAGATGCTGG	0.418000														115			30		0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333552	27333552	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333552C>T	uc021rhk.1	-	0	413	c.413G>A	c.(412-414)cGc>cAc	p.R138H	GPR12_uc010aal.3_Missense_Mutation_p.R138H|GPR12_uc010tdl.2_5'UTR	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	138						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TGAGAGGTAGCGGTCAACAGT	0.552000														136			27		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50405543	50405543	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405543C>T	uc002xwh.4	-	2	2700	c.2599G>A	c.(2599-2601)Gcc>Acc	p.A867T	SALL4_uc010gii.3_Missense_Mutation_p.A430T|SALL4_uc002xwi.4_Missense_Mutation_p.A90T	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	867					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGTTGCTTGGCCTGTCGGCGT	0.567000														111			24		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615445	7615445	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7615445G>A	uc010xjq.2	+	17	2256	c.2016G>A	c.(2014-2016)ggG>ggA	p.G672G	PNPLA6_uc002mgq.2_Silent_p.G624G|PNPLA6_uc010xjp.2_Silent_p.G598G|PNPLA6_uc002mgr.2_Silent_p.G624G|PNPLA6_uc002mgs.3_Silent_p.G663G	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	663					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCAATGGGCGGCTGCGTA	0.687000														78			17		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036219	57036219	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036219C>A	uc002qnh.3	+	4	916	c.783C>A	c.(781-783)ctC>ctA	p.L261L		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACTCTTTGAATGTA	0.368000														174			19		5.3912e-06	5.69533e-06	1	1	0
RPTOR	57521	broad.mit.edu	37	17	78796055	78796055	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78796055C>A	uc002jyt.1	+	7	1750	c.945C>A	c.(943-945)atC>atA	p.I315I	RPTOR_uc002jys.3_Silent_p.I315I|RPTOR_uc010wuf.1_Silent_p.I130I|RPTOR_uc010wug.1_Silent_p.I315I	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	315					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TGAACTGGATCTTCACAGCCA	0.637000														589			109		5.19266e-41	6.60498e-41	1	1	0
MGAT1	4245	broad.mit.edu	37	5	180218780	180218780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180218780C>T	uc003mmg.4	-	1	1687	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	MGAT1_uc010jlf.3_Missense_Mutation_p.A398T|MGAT1_uc010jlg.3_Missense_Mutation_p.A398T|MGAT1_uc003mmh.4_Missense_Mutation_p.A398T|MGAT1_uc010jlh.3_Missense_Mutation_p.A398T|MGAT1_uc003mmi.4_Missense_Mutation_p.A398T|MGAT1_uc021yjn.1_Missense_Mutation_p.A398T	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT1), transcript variant 2, mRNA.	398					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGCCTTGGCGAAAGCCTTG	0.617000														119			45		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76784866	76784866	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76784866A>G	uc001jwn.1	+	16	4016	c.3523A>G	c.(3523-3525)Acc>Gcc	p.T1175A	KAT6B_uc001jwo.1_Missense_Mutation_p.T883A|KAT6B_uc001jwp.1_Missense_Mutation_p.T992A	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	1175					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCTGGAGCCTACCTGTGAGAT	0.493000														78			21		0	0	1	0	0
GLB1L	79411	broad.mit.edu	37	2	220102328	220102328	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220102328G>T	uc002vkm.3	-	15	1834	c.1595C>A	c.(1594-1596)cCt>cAt	p.P532H	GLB1L_uc002vkk.3_Missense_Mutation_p.P289H|GLB1L_uc010zkx.2_Missense_Mutation_p.P442H|GLB1L_uc002vkn.3_Missense_Mutation_p.P532H	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	532					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGCTTGAGGATATGGCCA	0.458000														133			39		1.90571e-15	2.25613e-15	1	1	0
HEATR8	374977	broad.mit.edu	37	1	55136215	55136215	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55136215C>T	uc010ooe.1	+	5	1759	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.R47C|HEATR8_uc010ood.1_5'UTR|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.R479C|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	479						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGCTCCGTCCGCAAGCAGGC	0.632000														35			5		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46254587	46254587	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46254587A>G	uc001ros.1	+	15	4777	c.4777A>G	c.(4777-4779)Act>Gct	p.T1593A	ARID2_uc001ror.3_Missense_Mutation_p.T1593A|ARID2_uc009zkg.1_Missense_Mutation_p.T1049A|ARID2_uc009zkh.1_Missense_Mutation_p.T1220A|ARID2_uc001rou.1_Missense_Mutation_p.T927A	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1593					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCACAGAACACTCCTATGCC	0.393000			"""N, S, F"""		hepatocellular carcinoma									81			15		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666368	30666368	+	Silent	SNP	G	A	A	rs150232321	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666368G>A	uc002dyy.3	+	7	1335	c.1077G>A	c.(1075-1077)ccG>ccA	p.P359P	PRR14_uc002dyz.3_Silent_p.P204P|PRR14_uc002dza.3_Silent_p.P359P|PRR14_uc002dzb.1_Silent_p.P173P	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	359	Pro-rich.		P -> L (in dbSNP:rs3747481).							breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GACCACGGCCGCGGCGGCACA	0.701000														180			33		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128252466	128252466	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128252466A>G	uc002ton.2	-	7	2084	c.1781T>C	c.(1780-1782)gTa>gCa	p.V594A	IWS1_uc010yzl.1_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	594					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTGCATAACTACAGCAGGCAG	0.284000														50			11		0	0	1	0	0
DRD3	1814	broad.mit.edu	37	3	113858410	113858410	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113858410C>A	uc003ebd.2	-	5	1083	c.660G>T	c.(658-660)cgG>cgT	p.R220R	DRD3_uc010hqn.1_Silent_p.R220R|DRD3_uc003ebb.1_Silent_p.R220R|DRD3_uc003ebc.1_Silent_p.R220R	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	220					G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATCCTTTTCCGTCTCCTTT	0.507000														195			55		1.4374e-25	1.79228e-25	1	1	0
NPM3	10360	broad.mit.edu	37	10	103542239	103542239	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103542239G>A	uc001ktt.3	-	2	343	c.320C>T	c.(319-321)cCc>cTc	p.P107L	FGF8_uc021pxg.1_5'Flank	NM_006993	NP_008924	O75607	NPM3_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA.	107							nucleic acid binding			large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		ACTCACCATGGGTTGGCAGGA	0.577000														37			6		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51289963	51289963	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51289963G>A	uc001zyx.2	+	17	2894	c.2787G>A	c.(2785-2787)gtG>gtA	p.V929V	AP4E1_uc021skz.1_Silent_p.V854V|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	929					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		CTATATCAGTGTCTTCTTATA	0.323000														70			13		0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386902	187386902	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386902C>T	uc003frn.3	-	1	424	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	101					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCCAGCTTTGCGTTCTCGGGG	0.502000														367			44		0	0	1	0	0
DCAF4	26094	broad.mit.edu	37	14	73412676	73412676	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73412676C>A	uc001xng.3	+	6	839	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	DCAF4_uc010ttr.2_Missense_Mutation_p.L185M|DCAF4_uc001xnj.3_Missense_Mutation_p.L207M|DCAF4_uc001xnh.3_Missense_Mutation_p.L107M|DCAF4_uc010tts.2_Missense_Mutation_p.L146M|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Missense_Mutation_p.L146M|DCAF4_uc001xnk.3_Missense_Mutation_p.L207M	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	207						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						CCTGCAAAGTCTGAAGACCCC	0.517000														333			86		4.65642e-50	5.94271e-50	1	1	0
KIRREL2	84063	broad.mit.edu	37	19	36348369	36348369	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36348369G>A	uc002ocb.4	+	1	396	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	KIRREL2_uc002obz.4_Missense_Mutation_p.A62T|KIRREL2_uc002oca.4_Intron|KIRREL2_uc002ocd.4_Missense_Mutation_p.A59T	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	62	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTGGGCTGGCCCTAGGGGG	0.647000														229			57		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384844	11384844	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384844C>T	uc003jfa.1	-	6	1255	c.1110G>A	c.(1108-1110)gaG>gaA	p.E370E	CTNND2_uc010itt.2_Silent_p.E279E|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	370					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCTGTACTGCTCGGACGCGT	0.672000														63			16		0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90936852	90936852	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90936852C>T	uc003yeh.3	+	5	1002	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	OSGIN2_uc003yeg.3_Missense_Mutation_p.L204F	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	204					germ cell development|meiosis			p.S247F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CGTATCAAGACTCTACAGAGA	0.338000														113			11		0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850667	35850667	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35850667G>A	uc002nzd.3	+	1	950	c.875G>A	c.(874-876)aGg>aAg	p.R292K	FFAR3_uc021usm.1_Missense_Mutation_p.R292K	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	292						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GAGCTGCTGAGGAGGTTGTGT	0.592000														108			24		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160455500	160455500	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160455500A>C	uc003qta.3	+	9	1409	c.1261A>C	c.(1261-1263)Agc>Cgc	p.S421R		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	421					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)		TGATGAATGCAGCTCAGGGTT	0.443000														139			8		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41077050	41077050	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41077050G>A	uc003ayz.3	+	1	655	c.387G>A	c.(385-387)acG>acA	p.T129T	MCHR1_uc003aza.3_Silent_p.T18T	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	129					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GGAACTCCACGGTCATCTTCG	0.552000														162			25		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228481232	228481232	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228481232G>A	uc009xez.1	+	40	11090	c.11046G>A	c.(11044-11046)caG>caA	p.Q3682Q	OBSCN_uc001hsn.3_Silent_p.Q3682Q|OBSCN_uc001hsq.1_Silent_p.Q938Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3682	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTGAGCTGCAGATCCGCGGCC	0.637000														214			46		0	0	1	0	0
PDE11A	50940	broad.mit.edu	37	2	178592804	178592804	+	Missense_Mutation	SNP	G	A	A	rs142279060		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178592804G>A	uc002ulq.3	-	10	2203	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	PDE11A_uc002ulp.3_Missense_Mutation_p.R185W|PDE11A_uc002ulr.3_Missense_Mutation_p.R379W|PDE11A_uc002uls.1_Missense_Mutation_p.R271W|PDE11A_uc002ult.1_Missense_Mutation_p.R379W|PDE11A_uc002ulu.1_Missense_Mutation_p.R271W	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	629					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R629L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATGAACATCCGGAGAGCAGCT	0.468000									Primary Pigmented Nodular Adrenocortical Disease, Familial					81			28		0	0	1	0	0
ISOC2	79763	broad.mit.edu	37	19	55964733	55964733	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55964733G>A	uc002qla.3	-	5	782	c.608C>T	c.(607-609)cCc>cTc	p.P203L	ISOC2_uc002qlb.3_Missense_Mutation_p.P187L|ISOC2_uc002qlc.3_Missense_Mutation_p.P117L	NM_024710	NP_078986	Q96AB3	ISOC2_HUMAN	Homo sapiens isochorismatase domain containing 2 (ISOC2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	187					protein destabilization	mitochondrion|nucleus	catalytic activity|protein binding			endometrium(1)|lung(4)|ovary(1)|stomach(1)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0535)		GTCTGGGGCGGGCTCCTTGAT	0.602000														45			9		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98541110	98541110	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98541110A>C	uc003dte.3	-	5	1155	c.792T>G	c.(790-792)taT>taG	p.Y264*	DCBLD2_uc003dtd.3_Nonsense_Mutation_p.Y264*	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	264	LCCL.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						AACTTTCATAATAGGGGATAC	0.393000														55			11		0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27208313	27208313	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27208313G>A	uc002hdc.3	-	8	1118	c.995C>T	c.(994-996)gCg>gTg	p.A332V		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	332					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction		p.E331D(1)		endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTTGCCCATCGCCTCGATGAC	0.622000														187			48		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124152810	124152810	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124152810C>A	uc001lge.2	+	1	343	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	PLEKHA1_uc001lgf.2_Missense_Mutation_p.L32M|PLEKHA1_uc001lgg.2_Missense_Mutation_p.L32M	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	32	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTACTTCATACTGGATACCAG	0.363000														58			17		1.56452e-12	1.80666e-12	1	1	0
PSMC4	5704	broad.mit.edu	37	19	40485876	40485876	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40485876G>A	uc002omq.3	+	6	863	c.826G>A	c.(826-828)Gat>Aat	p.D276N	PSMC4_uc002omr.3_Missense_Mutation_p.D245N	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	276					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAAGAGATTCGATGCTCAGAC	0.582000														71			18		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231927275	231927275	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927275G>A	uc002vrn.2	+	3	352	c.190G>A	c.(190-192)Gca>Aca	p.A64T	PSMD1_uc002vrm.2_Missense_Mutation_p.A64T|PSMD1_uc010fxu.2_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	64					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	AGCCTTAGTGGCATCTAAAGT	0.418000														117			38		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24496606	24496606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496606C>T	uc002kwd.3	-	4	1178	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.A317T|CHST9_uc021uij.1_Missense_Mutation_p.A232T	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	317					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					TCTTCACAGGCATTTGGTCGA	0.398000														176			48		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148702352	148702352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148702352C>T	uc003wff.2	-	8	1685	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	468					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CCCACTCTCGCTGAGCCCCAG	0.582000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		287			53		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4436361	4436361	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436361G>A	uc002fxx.2	+	6	1239	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	342					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TACCTGCACCGCGCCCAAGTT	0.701000														82			14		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307515	14307515	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307515T>G	uc021war.1	-	0	638	c.638A>C	c.(637-639)aAt>aCt	p.N213T	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.N213T|FLRT3_uc002wow.2_Missense_Mutation_p.N213T	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	213					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TAAACCATGATTGTTCAACAG	0.443000														101			20		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121258312	121258312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121258312C>T	uc003eee.4	-	3	728	c.599G>A	c.(598-600)cGc>cAc	p.R200H		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	200	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity	p.R333H(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCTATGAGGCGATTGATCAG	0.383000								DNA polymerases (catalytic subunits)						106			15		0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4525690	4525690	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4525690G>A	uc002mas.3	-	5	728	c.675C>T	c.(673-675)caC>caT	p.H225H		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	225						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCTGGGCACGGTGTTTGCTCT	0.652000														140			37		0	0	1	0	0
SAP18	10284	broad.mit.edu	37	13	21720978	21720978	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21720978G>A	uc001uns.3	+	2	313	c.274G>A	c.(274-276)Gta>Ata	p.V92I		NM_005870	NP_005861	O00422	SAP18_HUMAN	Homo sapiens Sin3A-associated protein, 18kDa (SAP18), mRNA.	73					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		GACAAGCTTAGTAAAAGAAGT	0.343000														71			13		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46341750	46341750	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46341750G>T	uc002pdn.3	-	9	1456	c.1211C>A	c.(1210-1212)cCt>cAt	p.P404H	SYMPK_uc002pdo.1_Missense_Mutation_p.P404H|SYMPK_uc002pdp.1_Missense_Mutation_p.P404H|SYMPK_uc002pdq.2_Missense_Mutation_p.P404H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	404					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGTCAGCAGAGGCTGCAGGAA	0.602000														55			10		1.33987e-11	1.52969e-11	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66928609	66928609	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66928609C>T	uc002jhq.3	-	6	957	c.617G>A	c.(616-618)gGa>gAa	p.G206E	ABCA8_uc002jhp.3_Missense_Mutation_p.G206E|ABCA8_uc010wqq.2_Missense_Mutation_p.G206E|ABCA8_uc010wqr.2_Missense_Mutation_p.G145E|ABCA8_uc002jhr.3_Missense_Mutation_p.G206E|ABCA8_uc002jhs.3_Missense_Mutation_p.G206E|ABCA8_uc002jht.3_Missense_Mutation_p.G206E	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	206						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CATATTTTTTCCAGTAACTGA	0.338000														142			11		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18824540	18824540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18824540C>T	uc004cyq.3	+	14	1752	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	PPEF1_uc004cyp.3_Missense_Mutation_p.A396V|PPEF1_uc004cyr.3_Missense_Mutation_p.A362V|PPEF1_uc004cys.3_Missense_Mutation_p.A424V|PPEF1_uc011mja.2_Missense_Mutation_p.A359V|PPEF1_uc011mjb.2_Missense_Mutation_p.A368V	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	424	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTTTCTGCTTCTAATTAT	0.373000														150			59		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108183499	108183499	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108183499G>A	uc003dxa.1	-	15	1834	c.1777C>T	c.(1777-1779)Cat>Tat	p.H593Y		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	593	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.H593H(1)|p.V592L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCATAATGGACAAGTTCA	0.413000														180			25		0	0	1	0	0
ERV3-1	2086	broad.mit.edu	37	7	64452444	64452444	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64452444C>T	uc011kdr.2	-	1	1555	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.A321T	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	321						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						agggaagaggcggttagtgtg	0.473000														86			14		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75851896	75851896	+	Silent	SNP	A	G	G	rs143874379		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75851896A>G	uc001oxc.3	+	14	1780	c.1539A>G	c.(1537-1539)agA>agG	p.R513R	UVRAG_uc010rrw.2_Silent_p.R412R|UVRAG_uc001oxd.3_Silent_p.R141R|UVRAG_uc010rrx.2_Silent_p.R141R|UVRAG_uc010rry.2_Silent_p.R69R	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	513					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						AGAATGAGAGACTTCAGTACA	0.527000														145			14		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163279902	163279902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163279902G>A	uc002uch.2	-	8	2327	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	KCNH7_uc002uci.3_Missense_Mutation_p.L693F	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	700					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.L700I(2)|p.R699C(1)|p.R699H(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TATTCTTCAAGACGTTGCCTC	0.453000														248			85		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351691	172351691	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172351691G>A	uc011bpx.2	-	4	1059	c.921C>T	c.(919-921)atC>atT	p.I307I	NCEH1_uc003fig.3_Silent_p.I299I|NCEH1_uc011bpw.2_Silent_p.I134I|NCEH1_uc011bpy.2_Silent_p.I134I	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	267					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GATTGTTAACGATCATTGCCT	0.478000														114			7		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36994315	36994315	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36994315C>A	uc002rpl.3	+	6	868	c.566C>A	c.(565-567)gCt>gAt	p.A189D	VIT_uc010ynf.2_Intron|VIT_uc002rpm.3_Missense_Mutation_p.A189D|VIT_uc010ezv.3_Missense_Mutation_p.A189D|VIT_uc010ezw.3_Missense_Mutation_p.A189D	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	189						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CAGCTTCTGGCTGTCACTGTA	0.552000														68			19		1.67942e-08	1.84125e-08	1	1	0
STAT1	6772	broad.mit.edu	37	2	191850364	191850364	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191850364G>T	uc010fse.2	-	13	1676	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	STAT1_uc021vue.1_Missense_Mutation_p.A227D|STAT1_uc002usj.2_Missense_Mutation_p.A415D|STAT1_uc002usk.2_Missense_Mutation_p.A415D|STAT1_uc002usl.2_Missense_Mutation_p.A417D|STAT1_uc010fsf.1_Missense_Mutation_p.A227D	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	415					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TCTGGTGCCAGCATTTTTCTG	0.413000														76			25		2.41591e-17	2.89771e-17	1	1	0
CDK5RAP2	55755	broad.mit.edu	37	9	123206003	123206003	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123206003C>T	uc004bkf.3	-	22	3224	c.3043G>A	c.(3043-3045)Gca>Aca	p.A1015T	CDK5RAP2_uc010mvi.3_Intron|CDK5RAP2_uc004bke.3_Missense_Mutation_p.A300T|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.A1015T|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.A280T|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.A280T|CDK5RAP2_uc011lya.2_Missense_Mutation_p.A280T|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.A785T|CDK5RAP2_uc004bki.3_Missense_Mutation_p.A782T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1015	Interaction with MAPRE1.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGGTAGGCTGCTCCCACAGGG	0.453000														126			22		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851233	51851233	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851233A>G	uc010xdt.2	-	5	492	c.492T>C	c.(490-492)taT>taC	p.Y164Y		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	164	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		CTAGTTTGGAATATGCTGGGT	0.333000														56			12		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028164	38028164	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028164G>T	uc010efm.3	+	7	1046	c.604G>T	c.(604-606)Gca>Tca	p.A202S	ZNF793_uc010xts.2_Missense_Mutation_p.A202S	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCAGAACCCGGCACTTATGTA	0.468000														34			11		7.93312e-07	8.47869e-07	1	1	0
KLHL36	79786	broad.mit.edu	37	16	84691069	84691069	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84691069C>T	uc002fig.3	+	2	797	c.656C>T	c.(655-657)aCg>aTg	p.T219M	KLHL36_uc010chl.3_Missense_Mutation_p.T218M	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	219	BACK.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CAGTGGCTGACGCAGCAGCCC	0.667000														113			60		0	0	1	0	0
MED26	9441	broad.mit.edu	37	19	16687637	16687637	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16687637G>A	uc002nen.1	-	2	1265	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	335					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGGCTTTCCGCACTGGGCAG	0.721000														58			16		0	0	1	0	0
ZNF414	84330	broad.mit.edu	37	19	8578036	8578036	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8578036G>A	uc002mke.4	-	1	311	c.193C>T	c.(193-195)Cag>Tag	p.Q65*	ZNF414_uc010dwf.3_Nonsense_Mutation_p.Q54*|ZNF414_uc002mkf.3_Nonsense_Mutation_p.Q65*	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	65			Q -> R (in dbSNP:rs8100431).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						GAGCCCTGCTGCATCCCTCCA	0.706000														15			3		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6474563	6474563	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6474563G>T	uc003sqa.3	-	3	678	c.508C>A	c.(508-510)Ccc>Acc	p.P170T	DAGLB_uc011jwt.2_5'UTR|DAGLB_uc011jwu.2_Intron|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.P129T|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	170					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGGTGGCTGGGGCCGGCAGAG	0.498000														154			45		1.62957e-23	2.01904e-23	1	1	0
GAS2	2620	broad.mit.edu	37	11	22777449	22777449	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22777449C>T	uc009yie.3	+	6	979	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	GAS2_uc001mqm.3_Missense_Mutation_p.R225W|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R225W	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	225	GAR.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTGTGTGGAGCGGCTCTCCCA	0.398000														50			21		0	0	1	0	0
FAM192A	80011	broad.mit.edu	37	16	57188214	57188214	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57188214G>A	uc021tiy.1	-	6	1012	c.753C>T	c.(751-753)ctC>ctT	p.L251L	FAM192A_uc021tix.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	251						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						AGGGGGCCTCGAGGAAGGTGT	0.547000														70			13		0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58486991	58486991	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58486991A>G	uc003dkj.4	+	2	463	c.346A>G	c.(346-348)Act>Gct	p.T116A	KCTD6_uc003dkk.4_Missense_Mutation_p.T116A	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	116						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TCCCATGGATACTTTTGAAGA	0.418000														166			13		0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114004419	114004419	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114004419C>T	uc010yxt.2	-	2	269	c.103G>A	c.(103-105)Gta>Ata	p.V35I	PAX8_uc010yxu.2_Missense_Mutation_p.V35I|PAX8_uc002tjm.3_Missense_Mutation_p.V35I|PAX8_uc002tjn.3_Missense_Mutation_p.V35I|PAX8_uc010fku.1_Missense_Mutation_p.V35I|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	35	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGTCTACGATGCGCTGG	0.612000			T	PPARG	follicular thyroid		Thyroid dysgenesis							132			26		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111436590	111436590	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111436590G>A	uc003iab.4	+	7	1843	c.1501G>A	c.(1501-1503)Gga>Aga	p.G501R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	501					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)	TTTTCAAAAAGGATGTCAGGT	0.294000														45			7		0	0	1	0	0
OR13C4	138804	broad.mit.edu	37	9	107288998	107288998	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107288998G>A	uc011lvn.2	-	0	493	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						AAAGGCCATCGCATGGCAAGT	0.383000														156			27		0	0	1	0	0
SMYD2	56950	broad.mit.edu	37	1	214500997	214500997	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214500997A>C	uc021pix.1	+	6	668	c.635A>C	c.(634-636)aAt>aCt	p.N212T	SMYD2_uc021piw.1_Missense_Mutation_p.N120T|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	212	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TGTTGCCCCAATGTCATTGTG	0.473000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		137			29		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022128	120022128	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:120022128C>A	uc003ksq.3	+	1	802	c.639C>A	c.(637-639)taC>taA	p.Y213*	PRR16_uc003ksp.3_Nonsense_Mutation_p.Y190*|PRR16_uc003ksr.3_Nonsense_Mutation_p.Y143*	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	213	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AAGTACAGTACCATGGCTATT	0.488000														86			14		6.31663e-08	6.86475e-08	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197408739	197408739	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408739G>A	uc003fyc.2	-	14	2341	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	KIAA0226_uc003fyd.3_Missense_Mutation_p.R675C|KIAA0226_uc003fye.1_Missense_Mutation_p.R452C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	720					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CCTGCACAGCGGTAATTCTGC	0.592000														82			12		0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44839359	44839359	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44839359C>A	uc002zdf.2	-	10	1247	c.1120_splice	c.e10-1	p.V374_splice		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	374					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGAGGCACCTGGGGCCGGC	0.627000														92			20		1.50039e-11	1.71053e-11	1	1	0
ZFYVE20	64145	broad.mit.edu	37	3	15127405	15127405	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15127405A>G	uc003bzm.1	-	5	967	c.353T>C	c.(352-354)gTt>gCt	p.V118A	ZFYVE20_uc010hek.1_Missense_Mutation_p.V118A|ZFYVE20_uc011avn.1_Missense_Mutation_p.V118A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	118	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GACTTCCACAACATAGTGGTC	0.358000														242			56		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157182425	157182425	+	Missense_Mutation	SNP	T	C	C	rs146388108		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157182425T>C	uc002tyz.4	-	7	2050	c.1628A>G	c.(1627-1629)aAt>aGt	p.N543S	NR4A2_uc021vri.1_Missense_Mutation_p.N518S|NR4A2_uc002tyx.4_Missense_Mutation_p.N480S|NR4A2_uc010zcf.2_Missense_Mutation_p.N543S	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	543					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CAACCCCCCATTGTTGAAAGT	0.478000														79			42		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170505813	170505813	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170505813G>T	uc002ufe.2	-	7	1290	c.1196C>A	c.(1195-1197)gCt>gAt	p.A399D		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	399										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TTGTTCTTTAGCCTCTATTTT	0.343000														44			10		0.000151284	0.000156809	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70319395	70319395	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319395G>A	uc001oqc.3	-	21	5043	c.4931C>T	c.(4930-4932)cCt>cTt	p.P1644L	SHANK2_uc010rqn.2_Missense_Mutation_p.P1120L|SHANK2_uc001opz.3_Missense_Mutation_p.P1115L|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Missense_Mutation_p.P46L|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGAGACCACAGGGCTTGGGGC	0.622000														140			27		0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256399	63256399	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256399G>A	uc011cqt.2	-	0	1148	c.1148C>T	c.(1147-1149)gCc>gTc	p.A383V		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	383					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	ATTGATTATGGCGCCCAACAG	0.507000														432			93		0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58118706	58118706	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:58118706C>T	uc001jjx.1	-	5	520	c.483G>A	c.(481-483)gaG>gaA	p.E161E	ZWINT_uc001jjy.1_Silent_p.E161E|ZWINT_uc001jka.1_Silent_p.E161E|ZWINT_uc009xoy.1_Non-coding_Transcript	NM_007057	NP_127490	O95229	ZWINT_HUMAN	Homo sapiens ZW10 interactor (ZWINT), transcript variant 1, mRNA.	161					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCAGATGCTTCTCCTGCCAGG	0.542000														140			27		0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95353756	95353756	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353756G>A	uc001kit.3	-	4	476	c.392C>T	c.(391-393)aCg>aTg	p.T131M		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	131					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding	p.D130N(1)		large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	CACGGCATACGTGTCGTAGTC	0.582000														172			40		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39133095	39133095	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39133095G>A	uc004abi.3	-	12	2153	c.1914C>T	c.(1912-1914)ccC>ccT	p.P638P	CNTNAP3_uc004abj.3_Silent_p.P637P|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.P638P|CNTNAP3_uc011lqs.1_Silent_p.P544P	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	638	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCACCGCGTCGGGGCCACCGT	0.711000														10			7		0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50502477	50502477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50502477G>A	uc003bjg.1	-	10	1318	c.1045C>T	c.(1045-1047)Cgc>Tgc	p.R349C	MLC1_uc011arl.1_Missense_Mutation_p.R297C|MLC1_uc003bjh.1_Missense_Mutation_p.R349C|MLC1_uc011arm.1_Missense_Mutation_p.R319C|MLC1_uc011arn.1_Missense_Mutation_p.R270C|MLC1_uc011aro.1_Missense_Mutation_p.R315C	NM_139202	NP_631941	Q15049	MLC1_HUMAN	Homo sapiens megalencephalic leukoencephalopathy with subcortical cysts 1 (MLC1), transcript variant 2, mRNA.	349						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CCAGCCAGGCGCTCCTGCGGG	0.706000														94			19		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2239246	2239246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2239246C>T	uc010bsg.1	-	4	511	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	160					signal transduction	cytoplasm		p.R160R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CACCCCAACGCGGCCGAACTC	0.662000														103			17		0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78492556C>A	uc001vkp.1	-	1	576	c.423G>T	c.(421-423)aaG>aaT	p.K141N	BX647243_uc001vks.3_5'Flank|EDNRB_uc001vkq.1_Missense_Mutation_p.K51N|EDNRB_uc001vko.2_Missense_Mutation_p.K51N|EDNRB_uc010aez.1_Missense_Mutation_p.K51N	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	51					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding	p.I140I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCCATAAGGTCTTAGTGGGTG	0.632000														112			14		1.15088e-07	1.24477e-07	1	1	0
EGR1	1958	broad.mit.edu	37	5	137802696	137802696	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137802696G>T	uc003ldb.1	+	1	828	c.558G>T	c.(556-558)caG>caT	p.Q186H		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	186					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCGCCTCCCAGAGCCCACCCC	0.637000														440			96		5.78178e-49	7.37764e-49	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262809	39262809	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262809G>A	uc001uwv.3	+	0	1637	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	443					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R443Q(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGTCACCCGGAATACCGGT	0.542000														138			26		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89882186	89882186	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89882186T>G	uc001pdf.4	+	3	503	c.394T>G	c.(394-396)Tca>Gca	p.S132A	NAALAD2_uc009yvx.3_Missense_Mutation_p.S132A|NAALAD2_uc009yvy.3_Missense_Mutation_p.S132A|NAALAD2_uc001pdd.2_Missense_Mutation_p.S132A|NAALAD2_uc001pde.3_Missense_Mutation_p.S132A	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	132					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCAAAACATCATACCTTGA	0.323000														113			39		0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958122	41958122	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41958122G>A	uc010win.1	-	8	1273	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	MPP2_uc002ien.1_Missense_Mutation_p.R380W|MPP2_uc010wim.1_Missense_Mutation_p.R352W|MPP2_uc002ieo.1_Missense_Mutation_p.R363W|MPP2_uc010wio.1_Missense_Mutation_p.R352W|MPP2_uc010wip.1_Missense_Mutation_p.R408W			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	387	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		AGGCTGCGCCGTCCCACGCCC	0.607000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		191			47		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76483753	76483753	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76483753A>T	uc002fex.1	+	5	1217	c.1078A>T	c.(1078-1080)Atg>Ttg	p.M360L	CNTNAP4_uc002feu.1_Missense_Mutation_p.M356L|CNTNAP4_uc002fev.1_Intron|CNTNAP4_uc010chb.1_Intron|CNTNAP4_uc002few.2_Missense_Mutation_p.M332L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	357	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.P359R(2)|p.D360E(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GATCATTGCTATGGTGAGAGT	0.338000														14			4		0	0	1	0	0
H2AFZ	3015	broad.mit.edu	37	4	100870530	100870530	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870530C>T	uc003hvo.1	-	2	280	c.95G>A	c.(94-96)cGt>cAt	p.R32H	DNAJB14_uc003hvl.3_5'Flank|DNAJB14_uc010ili.3_5'Flank|DNAJB14_uc003hvm.3_5'Flank|H2AFZ_uc003hvn.1_3'UTR|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	Homo sapiens H2A histone family, member Z (H2AFZ), mRNA.	32					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G31G(1)		breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		TCGATGAATACGGCCCACTGG	0.498000											OREG0016271	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		82			8		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746023	90746023	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90746023C>T	uc011lti.2	-	3	1958	c.1929G>A	c.(1927-1929)caG>caA	p.Q643Q		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	643																	CCAGCACCTGCTGAGTACACG	0.547000														299			75		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105613723	105613723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105613723C>T	uc001yqg.3	-	19	2823	c.2419G>A	c.(2419-2421)Ggc>Agc	p.G807S	JAG2_uc001yqf.3_Missense_Mutation_p.G211S|JAG2_uc001yqh.3_Missense_Mutation_p.G769S	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	807	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CAGTTGACGCCGTCAACACAG	0.667000														35			5		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146772	72146772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146772G>A	uc002atl.4	-	34	6765	c.6292C>T	c.(6292-6294)Cga>Tga	p.R2098*	MYO9A_uc002atk.3_Nonsense_Mutation_p.R893*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2098	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAGACTTTCGATAAATACCT	0.373000														163			34		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19483440	19483440	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19483440C>T	uc003jgd.3	-	11	2386	c.1852G>A	c.(1852-1854)Gct>Act	p.A618T	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.A618T|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	618					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGAAGAATAGCGATTAAGGCT	0.478000														62			11		0	0	1	0	0
FAM176A	84141	broad.mit.edu	37	2	75720521	75720521	+	Silent	SNP	G	A	A	rs146541154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75720521G>A	uc002sni.2	-	3	778	c.300C>T	c.(298-300)caC>caT	p.H100H	FAM176A_uc002snj.1_Silent_p.H87H|FAM176A_uc002snk.1_Silent_p.H100H	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	100					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						CGAAGCGGCGGTGTCTCCGCA	0.627000														166			35		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44547732	44547732	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44547732G>A	uc002ruc.4	+	9	2090	c.2012G>A	c.(2011-2013)cGa>cAa	p.R671Q	PREPL_uc002rug.3_3'UTR|PREPL_uc002ruh.3_3'UTR|PREPL_uc002ruf.3_3'UTR|PREPL_uc010fax.3_3'UTR|PREPL_uc002rui.4_3'UTR|PREPL_uc002ruj.2_3'UTR|PREPL_uc002ruk.2_3'UTR|SLC3A1_uc002rud.4_Missense_Mutation_p.R393Q|SLC3A1_uc002rue.4_Missense_Mutation_p.R291Q	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	671					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GTTTCCAATCGAGCATGCTAT	0.418000														103			13		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73074371	73074371	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73074371G>A	uc001otu.3	+	14	5138	c.5117G>A	c.(5116-5118)aGc>aAc	p.S1706N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1706					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCGGCACCAGCCCAATGGAT	0.667000														65			18		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45713016	45713016	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713016G>A	uc002zei.2	+	9	1363	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	AIRE_uc010gpq.2_Non-coding_Transcript|AIRE_uc002zej.2_Silent_p.S215S|AIRE_uc010gpr.2_Silent_p.S215S	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	412					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)		TGGACTCCTCGGCCCTGCACC	0.682000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					24			4		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090586	114090586	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090586C>A	uc011lwp.2	-	0	128	c.128G>T	c.(127-129)aGc>aTc	p.S43I		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AATAAGAGTGCTGTTGCCCAA	0.418000														133			21		1.96292e-10	2.20843e-10	1	1	0
VN1R10P	387316	broad.mit.edu	37	6	27293440	27293440	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27293440A>C	uc010jqt.3	+	0	901	c.379A>C	c.(379-381)Att>Ctt	p.I127L		NM_032030	NP_114419			SubName: Full=FKSG83 protein; SubName: Full=FKSG83, isoform CRA_a; SubName: Full=FKSG83, isoform CRA_b;																		CCTGGAGAACATTACTAGTTT	0.343000														96			17		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49371699	49371699	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49371699C>A	uc001jgi.3	-	27	3884	c.3553G>T	c.(3553-3555)Gct>Tct	p.A1185S	FRMPD2_uc001jgh.3_Missense_Mutation_p.A1153S|FRMPD2_uc001jgj.3_Missense_Mutation_p.A1154S|FRMPD2_uc001jgf.3_Missense_Mutation_p.A196S|FRMPD2_uc001jgg.3_Missense_Mutation_p.A137S|FRMPD2_uc001jgk.3_Missense_Mutation_p.A137S	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	1185					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding	p.A1185T(2)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TCTTTGTCAGCTGAGAGTTCA	0.458000														236			38		3.76604e-16	4.48148e-16	1	1	0
ABHD16B	140701	broad.mit.edu	37	20	62493574	62493574	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62493574C>T	uc002ygx.1	+	0	1009	c.681C>T	c.(679-681)gtC>gtT	p.V227V		NM_080622	NP_542189	Q9H3Z7	ABHGB_HUMAN	Homo sapiens abhydrolase domain containing 16B (ABHD16B), mRNA.	227							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACGTGGTGGTCGAGTACGCAC	0.687000														86			16		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7063707	7063707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7063707C>T	uc001mfb.1	+	3	773	c.450C>T	c.(448-450)ttC>ttT	p.F150F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	150					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CTGAAGATTTCCATCATGGAA	0.418000														114			21		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060235	46060235	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46060235C>T	uc003gxb.3	-	7	1068	c.916_splice	c.e7+1	p.G306_splice		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	306					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATGTCATACCCAACGATGTTC	0.318000														69			14		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641406	156641406	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641406C>T	uc001fpq.3	-	3	2707	c.2574G>A	c.(2572-2574)ggG>ggA	p.G858G	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	858	Tail.			QGAMNPLEKEIQEPLESVEVNQETFRLLEEENQESLRSLGA WNLENLRSPEE -> KSGGNESSRKGNSRTTGVCGSEPRDI QTPGRGESGIIEISGSMEPGEFEISRG (in Ref. 1; CAA46780).	G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GATTCATTGCCCCCTGATTTA	0.448000														164			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870737	140870737	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870737G>A	uc003lla.2	+	0	1930	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.V644M	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	644	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCAGCAGGTGGTGGTCCT	0.597000														112			30		0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99811415	99811415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99811415G>A	uc003utx.1	+	32	3810	c.3655G>A	c.(3655-3657)Gag>Aag	p.E1219K	STAG3_uc011kjk.1_Missense_Mutation_p.E1161K|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.E444K|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1219					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGATTCTACAGAGCTGGATAT	0.493000														168			8		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76389355	76389355	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76389355T>G	uc002fex.1	+	1	485	c.346T>G	c.(346-348)Ttc>Gtc	p.F116V	CNTNAP4_uc002feu.1_Missense_Mutation_p.F112V|CNTNAP4_uc002fev.1_Missense_Mutation_p.F25V|CNTNAP4_uc010chb.1_Missense_Mutation_p.F88V|CNTNAP4_uc002few.2_Missense_Mutation_p.F88V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	113	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.V116D(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTCCTGATGTTCAGTGATAG	0.483000														157			9		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306183	239306183	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306183G>T	uc002vye.3	+	15	1892	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	TRAF3IP1_uc002vyf.3_Missense_Mutation_p.Q525H	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	591	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		CGTCCATCCAGACCCTGTGCA	0.542000														122			33		6.00712e-18	7.23423e-18	1	1	0
DDX46	9879	broad.mit.edu	37	5	134154554	134154554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154554C>T	uc003kzw.3	+	20	3002	c.2834C>T	c.(2833-2835)gCt>gTt	p.A945V		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	945					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTAGACTGCTAGGTGGAAA	0.403000														43			8		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611405	140611405	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140611405G>A	uc011mfc.2	+	2	450	c.413G>A	c.(412-414)aGg>aAg	p.R138K	EHMT1_uc004coa.3_Missense_Mutation_p.R138K|EHMT1_uc004cob.1_Missense_Mutation_p.R107K	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	138					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAGCCCTTGAGGACTACCAGC	0.567000														174			31		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59899598	59899598	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59899598A>G	uc002lil.3	+	9	1773	c.1558A>G	c.(1558-1560)Atg>Gtg	p.M520V	KIAA1468_uc002lik.1_Missense_Mutation_p.M520V|KIAA1468_uc010xel.2_Missense_Mutation_p.M520V|KIAA1468_uc002lim.3_Missense_Mutation_p.M164V	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	520							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AAAAAGCGTTATGTTAATGCT	0.393000														85			26		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692664	121692664	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692664G>A	uc001leu.2	+	16	3116	c.2906G>A	c.(2905-2907)aGt>aAt	p.S969N	SEC23IP_uc010qtc.2_Missense_Mutation_p.S758N|SEC23IP_uc009xzk.2_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	969	DDHD.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GCTCTTCAGAGTCACTTATGC	0.373000														101			22		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176317669	176317669	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176317669G>A	uc003mfa.3	-	5	689	c.597C>T	c.(595-597)gtC>gtT	p.V199V	HK3_uc003mez.3_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	199	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGCAGCTGGACCACATCCT	0.607000														519			84		0	0	1	0	0
C17orf64	124773	broad.mit.edu	37	17	58506770	58506770	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58506770C>T	uc002iyq.3	+	4	566	c.477C>T	c.(475-477)gaC>gaT	p.D159D		NM_181707	NP_859058	Q86WR6	CQ064_HUMAN	Homo sapiens chromosome 17 open reading frame 64 (C17orf64), mRNA.	159										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			TGCTGGCCGACCGGGAAGACA	0.612000														97			26		0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37974723	37974723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37974723C>T	uc004aax.3	-	2	1518	c.950G>A	c.(949-951)aGc>aAc	p.S317N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	317	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CAGTCGGGGGCTGACTGTGCT	0.592000														185			27		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150839253	150839253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150839253C>T	uc003wjg.1	+	14	1966	c.1963C>T	c.(1963-1965)Cga>Tga	p.R655*	AGAP3_uc003wje.1_Nonsense_Mutation_p.R324*|AGAP3_uc003wjj.1_Nonsense_Mutation_p.R154*|AGAP3_uc003wjk.1_Nonsense_Mutation_p.R73*	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	619	Arf-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GCGACAGACTCGACTGGGGAA	0.627000														577			26		0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80404827	80404827	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80404827A>G	uc003kha.2	+	12	1818	c.1768A>G	c.(1768-1770)Ata>Gta	p.I590V	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	590					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGTGGACAATATACGATGTAA	0.338000														47			10		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903513	4903513	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903513C>T	uc010qyp.2	+	0	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCGTGGCTATCTGTAACCCAC	0.488000														181			43		0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9255009	9255009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9255009C>T	uc002knv.3	+	8	2008	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	ANKRD12_uc002knw.3_Missense_Mutation_p.R559W|ANKRD12_uc002knx.3_Missense_Mutation_p.R559W|ANKRD12_uc010dkx.1_Missense_Mutation_p.R289W	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	582						nucleus		p.V581fs*18(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGATCTTGTTCGGTATGATAA	0.333000														86			15		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56184276	56184276	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56184276C>T	uc002lhj.4	-	8	6018	c.5804G>A	c.(5803-5805)cGc>cAc	p.R1935H		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1935	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CACTGTGCTGCGGAAGGCTTT	0.557000														196			22		0	0	1	0	0
CDC42SE2	56990	broad.mit.edu	37	5	130721245	130721245	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130721245C>T	uc003kvh.3	+	3	676	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	CDC42SE2_uc003kvi.3_Missense_Mutation_p.R22W|CDC42SE2_uc003kvj.3_Missense_Mutation_p.R22W|CDC42SE2_uc003kvk.3_Non-coding_Transcript	NM_020240	NP_064625	Q9NRR3	C42S2_HUMAN	Homo sapiens CDC42 small effector 2 (CDC42SE2), transcript variant 1, mRNA.	22	Poly-Arg.				phagocytosis|regulation of cell shape|regulation of signal transduction	cell projection|cytoplasm|cytoskeleton|phagocytic cup	protein binding|structural molecule activity			breast(1)|large_intestine(1)|skin(1)	3		all_cancers(142;0.0525)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAAAGGCGACGGCGGATTGA	0.373000														101			18		0	0	1	0	0
PAX4	5078	broad.mit.edu	37	7	127255125	127255125	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127255125T>C	uc010lld.1	-	1	351	c.145A>G	c.(145-147)Atc>Gtc	p.I49V	PAX4_uc003vmf.2_Missense_Mutation_p.I47V|PAX4_uc003vmg.1_Missense_Mutation_p.I49V|PAX4_uc003vmh.3_Missense_Mutation_p.I47V	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	57	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CGCCCTAGGATCTTGCTCACA	0.582000														166			34		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122107269	122107269	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107269C>T	uc001uax.3	-	0	292	c.121G>A	c.(121-123)Gag>Aag	p.E41K	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	41										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TCCTTCCACTCGCCCACATAG	0.627000											OREG0022205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		217			50		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154553974	154553974	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154553974G>A	uc010ipp.3	+	31	4364	c.4312G>A	c.(4312-4314)Gcc>Acc	p.A1438T	KIAA0922_uc003inm.4_Missense_Mutation_p.A1437T|KIAA0922_uc010ipq.3_Missense_Mutation_p.A1206T	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1437						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TCAGGAGTCGGCCCCGGTTCA	0.512000														111			28		0	0	1	0	0
DNAJC2	27000	broad.mit.edu	37	7	102967077	102967077	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102967077G>T	uc003vbo.3	-	4	736	c.485C>A	c.(484-486)cCt>cAt	p.P162H	PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_5'UTR|DNAJC2_uc010lix.3_Missense_Mutation_p.P162H|DNAJC2_uc003vbp.3_5'UTR|DNAJC2_uc003vbq.1_Non-coding_Transcript	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	162	ZRF1-UBD.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	DNA binding|Hsp70 protein binding|chromatin binding|histone binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						ATCAAAAGTAGGATCTACACT	0.343000														47			8		0.0381472	0.038366	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84811312	84811312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811312C>T	uc010fgb.3	+	14	2556	c.2419C>T	c.(2419-2421)Cat>Tat	p.H807Y	DNAH6_uc002soo.3_Missense_Mutation_p.H386Y|DNAH6_uc002sop.3_Missense_Mutation_p.H386Y	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	807	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTTTGTGTGCATTTGGGTAG	0.348000														104			29		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111956567	111956567	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111956567G>T	uc004bdz.1	-	20	2451	c.2156C>A	c.(2155-2157)cCc>cAc	p.P719H		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	719						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGACCTTGGGGGACGGCAG	0.632000														226			53		6.34439e-16	7.53893e-16	1	1	0
MEP1A	4224	broad.mit.edu	37	6	46806754	46806754	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46806754C>T	uc011dwh.1	+	12	2214	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	MEP1A_uc010jzh.1_Missense_Mutation_p.R708C|MEP1A_uc011dwg.1_Missense_Mutation_p.R430C|MEP1A_uc011dwi.1_Missense_Mutation_p.R608C	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	708					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CACGGGGGAGCGCTGTCAGGC	0.587000														286			50		0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401429	11401429	+	Silent	SNP	C	T	T	rs148222581		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11401429C>T	uc003gmq.3	-	1	524	c.201G>A	c.(199-201)acG>acA	p.T67T	HS3ST1_uc021xmg.1_Silent_p.T67T	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	67						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCAGTGCGCGCGTGCCGCCCT	0.677000														118			26		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216257885	216257885	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216257885C>T	uc002vfa.3	-	24	4104	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	FN1_uc002vfc.3_Intron|FN1_uc002vfe.3_Intron|FN1_uc002vff.3_Intron|FN1_uc002vfg.3_Intron|FN1_uc002vfh.3_Intron|FN1_uc002vfi.3_Missense_Mutation_p.D1280N|FN1_uc002vfj.3_Missense_Mutation_p.D1280N|FN1_uc002vfb.3_Intron|FN1_uc002vez.3_5'Flank|FN1_uc010zjp.2_5'UTR	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1280	Cell-attachment.|Fibronectin type-III 8.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.D1280N(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTTGAATCGGTTATATCA	0.468000														106			16		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114185035	114185035	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114185035A>C	uc001edk.3	+	9	2044	c.1863A>C	c.(1861-1863)gaA>gaC	p.E621D	MAGI3_uc001edh.3_Missense_Mutation_p.E646D|MAGI3_uc001edi.4_Missense_Mutation_p.E621D|MAGI3_uc010owm.2_Missense_Mutation_p.E646D|MAGI3_uc001edj.3_Missense_Mutation_p.E342D	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	646	PDZ 3.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTAAGGAAATATACCATC	0.408000														84			12		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346535	48346535	+	Missense_Mutation	SNP	G	T	T	rs76964780	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48346535G>T	uc010rhv.2	+	0	43	c.43G>T	c.(43-45)Ggc>Tgc	p.G15C		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TGTCTTTATAGGCAATACTGC	0.383000														153			30		2.08457e-15	2.46654e-15	1	1	0
WNT4	54361	broad.mit.edu	37	1	22447815	22447815	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22447815G>A	uc001bfs.4	-	3	581	c.477C>T	c.(475-477)atC>atT	p.I159I	WNT4_uc010odt.2_Silent_p.I96I	NM_030761	NP_110388	P56705	WNT4_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 4 (WNT4), mRNA.	159					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|androgen biosynthetic process|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|dermatome development|endoderm development|epithelial to mesenchymal transition|establishment of protein localization in plasma membrane|female gonad development|female sex determination|liver development|male gonad development|mesonephric tubule development|metanephric mesenchymal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of male gonad development|negative regulation of testicular blood vessel morphogenesis|negative regulation of testosterone biosynthetic process|negative regulation of transcription, DNA-dependent|oocyte development|paramesonephric duct development|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of collagen biosynthetic process|positive regulation of cortisol biosynthetic process|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|protein palmitoylation|renal vesicle formation|smooth muscle cell differentiation|somatotropin secreting cell differentiation|tertiary branching involved in mammary gland duct morphogenesis|thyroid-stimulating hormone-secreting cell differentiation	Golgi apparatus|cell surface|extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|signal transducer activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	8		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;9.02e-26)|Colorectal(126;1.71e-07)|COAD - Colon adenocarcinoma(152;1.17e-05)|GBM - Glioblastoma multiforme(114;2.01e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000568)|KIRC - Kidney renal clear cell carcinoma(1967;0.00277)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CACCGTAGGCGATGTTGTCAG	0.622000														134			38		0	0	1	0	0
MTSS1L	92154	broad.mit.edu	37	16	70714875	70714875	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70714875G>A	uc002ezj.3	-	1	383	c.123C>T	c.(121-123)tcC>tcT	p.S41S	MTSS1L_uc002ezk.1_5'Flank	NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	41	IMD.				filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						ACCTCAGCTGGGAATGCAGCT	0.647000														20			10		0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124765734	124765734	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765734G>A	uc001qbg.3	-	4	894	c.754C>T	c.(754-756)Ccg>Tcg	p.P252S	ROBO4_uc010sas.2_Missense_Mutation_p.P107S|ROBO4_uc001qbh.2_Missense_Mutation_p.P142S|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	252	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GCAGGATCCGGGTTCAGCAGT	0.597000														133			33		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132849	21132849	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132849A>G	uc002npg.4	+	3	1677	c.1529A>G	c.(1528-1530)tAc>tGc	p.Y510C	ZNF85_uc010ecn.3_Missense_Mutation_p.Y445C|ZNF85_uc010eco.3_Missense_Mutation_p.Y458C|ZNF85_uc002npi.3_Missense_Mutation_p.Y451C	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	510						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCATACAAATGTGAA	0.358000														51			9		0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121410400	121410400	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121410400T>G	uc010hrc.3	-	13	7937	c.7811A>C	c.(7810-7812)gAt>gCt	p.D2604A	GOLGB1_uc003eei.4_Missense_Mutation_p.D2599A|GOLGB1_uc003eej.4_Missense_Mutation_p.D2565A|GOLGB1_uc021xcy.1_Missense_Mutation_p.D2524A	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2599					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTAGATAAATCTTGTTTCTC	0.373000														83			18		0	0	1	0	0
CCNYL1	151195	broad.mit.edu	37	2	208589556	208589556	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208589556C>T	uc002vci.3	+	1	610	c.253C>T	c.(253-255)Cca>Tca	p.P85S	CCNYL1_uc002vch.3_Missense_Mutation_p.P15S	NM_001142300	NP_001135772	Q8N7R7	CCYL1_HUMAN	Homo sapiens cyclin Y-like 1 (CCNYL1), transcript variant 1, mRNA.	85					regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		TTCTGACCATCCAAGGGCAAG	0.368000														40			12		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10823295	10823295	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10823295C>T	uc001mjb.3	-	13	1860	c.708G>A	c.(706-708)caG>caA	p.Q236Q	EIF4G2_uc009ygf.3_Silent_p.Q442Q|EIF4G2_uc001mjc.3_Silent_p.Q236Q|EIF4G2_uc001mjd.3_Intron|EIF4G2_uc001mjf.1_Intron|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	442	MIF4G.		L -> M (in dbSNP:rs34885591).		RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.Q442H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTCCCTGACTCTGGTTATGGT	0.438000														105			22		0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266844	48266844	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266844A>G	uc003csj.2	+	3	608	c.443A>G	c.(442-444)aAa>aGa	p.K148R		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	148					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGATTGGCAAAGAGTTTAAA	0.468000														225			46		0	0	1	0	0
OAF	220323	broad.mit.edu	37	11	120097673	120097673	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120097673G>A	uc001pxb.3	+	2	756	c.515G>A	c.(514-516)cGc>cAc	p.R172H		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	172										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		ATCTACACCCGCCAGGAGGAT	0.647000														84			18		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17547982	17547982	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17547982G>A	uc001mnf.3	-	7	695	c.586C>T	c.(586-588)Cga>Tga	p.R196*	USH1C_uc001mne.3_Nonsense_Mutation_p.R196*|USH1C_uc009yhb.3_Nonsense_Mutation_p.R196*|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Nonsense_Mutation_p.R160*	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	196					G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.R196*(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGGCTGCCTCGCACGCCCTGA	0.597000														48			9		0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3187397	3187397	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3187397G>T	uc010uws.2	+	1	563	c.116G>T	c.(115-117)aGg>aTg	p.R39M	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Missense_Mutation_p.R39M|ZNF213_uc010bth.3_Missense_Mutation_p.R39M|ZNF213_uc010uwt.2_Missense_Mutation_p.R39M	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	39					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GAGGATGGCAGGGATTCCGAA	0.622000														183			29		3.65163e-15	4.31534e-15	1	1	0
ZNF512B	57473	broad.mit.edu	37	20	62597563	62597563	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62597563T>G	uc002yhl.1	-	4	1019	c.965A>C	c.(964-966)aAa>aCa	p.K322T		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCACCATTTTGCAGGGCGG	0.592000														189			46		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46787418	46787418	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46787418T>G	uc011dwh.1	+	5	625	c.617T>G	c.(616-618)aTc>aGc	p.I206S	MEP1A_uc010jzh.1_Missense_Mutation_p.I178S|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_Missense_Mutation_p.I78S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	178	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TATGTGAACATCTGGTGGGAC	0.473000														238			46		0	0	1	0	0
SAR1B	51128	broad.mit.edu	37	5	133944084	133944084	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133944084A>G	uc003kzq.3	-	6	711	c.458T>C	c.(457-459)tTa>tCa	p.L153S	SAR1B_uc003kzr.3_Missense_Mutation_p.L153S	NM_001033503	NP_057187	Q9Y6B6	SAR1B_HUMAN	Homo sapiens SAR1 homolog B (S. cerevisiae) (SAR1B), transcript variant 1, mRNA.	153					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	ER to Golgi transport vesicle membrane|Golgi cisterna membrane|cytosol|endoplasmic reticulum membrane	GTP binding|GTPase activity|metal ion binding			kidney(2)|lung(2)|urinary_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGACCATATAAACCAAACAT	0.353000														17			4		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38179198	38179198	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38179198A>C	uc002rqn.2	+	1	966	c.840A>C	c.(838-840)aaA>aaC	p.K280N	FAM82A1_uc002rqk.1_Intron|FAM82A1_uc002rql.3_Intron|FAM82A1_uc021vga.1_Intron|FAM82A1_uc002rqm.3_Intron	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	0						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						TCCTCCATAAAGCTGGATTTT	0.408000														130			25		0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9535870	9535870	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9535870C>T	uc002kob.3	+	9	2126	c.1903C>T	c.(1903-1905)Cca>Tca	p.P635S	RALBP1_uc002koc.3_Missense_Mutation_p.P635S	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	635					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TAAAGAGCAGCCAAAGGCAGG	0.657000														60			19		0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55589552	55589552	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55589552C>T	uc002ryv.2	-	6	1361	c.519G>A	c.(517-519)ctG>ctA	p.L173L	CCDC88A_uc010ypa.1_Silent_p.L173L|CCDC88A_uc010yoz.1_Silent_p.L173L|CCDC88A_uc010ypb.1_Silent_p.L75L	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	173					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CCATCCATTGCAGGTCAAACA	0.343000														36			12		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151166366	151166366	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151166366A>G	uc011bod.2	-	3	1403	c.1403T>C	c.(1402-1404)gTg>gCg	p.V468A		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	468	Ig-like C2-type 1.				cell differentiation|multicellular organismal development|ossification	extracellular region		p.P467T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTGTGTTTCACTGGCCTCAT	0.463000														191			46		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81944315	81944315	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81944315G>A	uc002fgt.3	+	17	2102	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	PLCG2_uc010chg.1_Missense_Mutation_p.E642K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	642					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						CAACCCCCACGAGTCCAAGCC	0.667000														496			110		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32212656	32212656	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212656A>G	uc002wzg.1	+	6	1343	c.806A>G	c.(805-807)cAc>cGc	p.H269R	CBFA2T2_uc010zug.1_Missense_Mutation_p.H43R|CBFA2T2_uc002wze.1_Missense_Mutation_p.H260R|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.H240R|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	269						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GCTCCTCGGCACAGTCCTGCT	0.507000														149			26		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58262867	58262867	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58262867C>T	uc002iyo.1	-	29	4074	c.3788G>A	c.(3787-3789)tGc>tAc	p.C1263Y	USP32_uc002iyn.1_Missense_Mutation_p.C933Y	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1263					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGTTGCTAAGCAGTGGGTCTT	0.502000														175			34		0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596628	58596628	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58596628C>T	uc010yht.1	-	6	1155	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	ZSCAN18_uc002qrj.3_Silent_p.S318S|ZSCAN18_uc010yhs.1_Silent_p.S183S|ZSCAN18_uc002qrh.2_Silent_p.S319S|ZSCAN18_uc002qri.2_Silent_p.S319S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	319					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CAGTGGTGCCCGACGGGGGAT	0.741000														79			7		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175616	79175616	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175616G>A	uc001xun.3	+	3	650	c.159G>A	c.(157-159)gcG>gcA	p.A53A	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.A187A	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.A53A(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCGGATTGCGGACACCAAGA	0.463000														126			13		0	0	1	0	0
PAPSS1	9061	broad.mit.edu	37	4	108535481	108535481	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108535481T>G	uc003hyk.3	-	11	1883	c.1799A>C	c.(1798-1800)aAa>aCa	p.K600T		NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	600					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		TTCAGGTGGTTTCTGGCCTTC	0.423000														122			29		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609485	108609485	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609485C>T	uc002tdv.3	+	3	626	c.350C>T	c.(349-351)cCg>cTg	p.P117L	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.P117L|SLC5A7_uc010ywn.2_Missense_Mutation_p.P4L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	117					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ATGTTAGACCCGTTTCAGCAA	0.423000														119			43		0	0	1	0	0
MBTD1	54799	broad.mit.edu	37	17	49272664	49272664	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49272664G>T	uc002itr.4	-	12	1627	c.1283C>A	c.(1282-1284)tCt>tAt	p.S428Y	MBTD1_uc002itp.4_Missense_Mutation_p.S264Y|MBTD1_uc002itq.4_Intron	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	428					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAACCAGTCAGATCCGTCTGC	0.433000														116			13		2.68362e-12	3.09043e-12	1	1	0
CDH5	1003	broad.mit.edu	37	16	66436913	66436913	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66436913C>T	uc002eom.4	+	11	2352	c.2196C>T	c.(2194-2196)ggC>ggT	p.G732G		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	732					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.G732S(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ACATCTACGGCTACGAGGGCT	0.642000														54			11		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196659307	196659307	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196659307C>T	uc001gtj.4	+	8	1514	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.A425V|CFH_uc009wyw.3_Missense_Mutation_p.A400V|CFH_uc009wyx.3_Missense_Mutation_p.A361V	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	425	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCCAAAAGCGCAGACCACA	0.433000														95			31		0	0	1	0	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342305	60342305	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60342305C>T	uc010woz.2	-	13		c.1824G>A								Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA.											breast(2)|kidney(1)|lung(2)	5						AAAAATAAAACGAGGAGGCGA	0.463000														186			13		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042196	86042196	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042196G>A	uc003ycw.3	+	10	1877	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Missense_Mutation_p.D464N|LRRCC1_uc010maa.2_Missense_Mutation_p.D258N|LRRCC1_uc003ycy.3_Missense_Mutation_p.D537N	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	557					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TTCAGCTGCCGATAGAGAAAT	0.373000														135			10		0	0	1	0	0
HIF1A	3091	broad.mit.edu	37	14	62207888	62207888	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62207888C>A	uc001xfq.2	+	11	2479	c.2075C>A	c.(2074-2076)tCt>tAt	p.S692Y	HIF1A_uc001xfr.2_Missense_Mutation_p.S692Y|HIF1A_uc001xfs.2_Missense_Mutation_p.S693Y|HIF1A_uc021rua.1_Missense_Mutation_p.S716Y	NM_001530	NP_001521	Q16665	HIF1A_HUMAN	Homo sapiens hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) (HIF1A), transcript variant 1, mRNA.	692	ID.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	Hsp90 protein binding|histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		AACGTGTTATCTGTCGCTTTG	0.333000														90			15		1.05317e-09	1.17384e-09	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125131850	125131850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125131850G>A	uc003yqw.3	+	40	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1798						integral to membrane				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)			CCCCTCAGCCGCCCAGACACC	0.473000														203			22		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790142	133790142	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790142C>T	uc001qgx.4	-	17	3709	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1160	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGGGCCGCCGTGCGCC	0.687000														198			43		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4852977	4852977	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4852977C>T	uc003bqc.3	+	54	7606	c.7256C>T	c.(7255-7257)aCt>aTt	p.T2419I	ITPR1_uc021wsi.1_Missense_Mutation_p.T2386I|ITPR1_uc021wsj.1_Missense_Mutation_p.T2371I|ITPR1_uc011asu.2_Missense_Mutation_p.T397I|ITPR1_uc010hcc.2_Missense_Mutation_p.T154I|ITPR1_uc011asv.2_Missense_Mutation_p.T110I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2434					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGAGAAGAGACTTTGCTTAAT	0.388000														54			10		0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7569075	7569075	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7569075G>A	uc002mgm.2	+	2	787	c.646G>A	c.(646-648)Gcc>Acc	p.A216T	C19orf45_uc010xjo.1_5'Flank	NM_198534	NP_940936	Q8NA69	CS045_HUMAN	Homo sapiens chromosome 19 open reading frame 45 (C19orf45), mRNA.	216										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						ACAGTTCCAGGCCCTGCCAGG	0.602000														70			12		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46783961	46783961	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46783961C>T	uc010hjl.3	-	3	601	c.566G>A	c.(565-567)cGc>cAc	p.R189H	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	221	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						TTTGGTGATGCGGGTGTACAC	0.552000														288			66		0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17316892	17316892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17316892C>T	uc001mmw.3	+	2	267	c.22C>T	c.(22-24)Cta>Tta	p.L8L	NUCB2_uc001mms.1_Silent_p.L9L|NUCB2_uc001mmt.1_Silent_p.L8L|NUCB2_uc009ygw.1_Non-coding_Transcript|NUCB2_uc001mmv.1_Silent_p.L8L|NUCB2_uc009ygx.1_Non-coding_Transcript|NUCB2_uc009ygy.1_Silent_p.L8L|NUCB2_uc009ygz.3_Silent_p.L8L	NM_005013	NP_005004	P80303	NUCB2_HUMAN	Homo sapiens nucleobindin 2 (NUCB2), mRNA.	8						ER-Golgi intermediate compartment|Golgi apparatus|cytosol|extracellular space|plasma membrane	DNA binding|calcium ion binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GACCATCCTGCTACAGTATTG	0.353000														182			34		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090042	50090042	+	Splice_Site	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50090042A>T	uc003jon.4	+	12	920	c.738_splice	c.e12-1	p.K246_splice	PARP8_uc011cpz.2_Splice_Site_p.K138_splice|PARP8_uc003joo.3_Splice_Site_p.K246_splice|PARP8_uc003jop.3_Splice_Site_p.K246_splice	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	246						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GATTGACAGAATCATGCAGAC	0.338000														61			13		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24891453	24891453	+	Missense_Mutation	SNP	G	A	A	rs141896929	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24891453G>A	uc003aaf.3	+	0	1377	c.82G>A	c.(82-84)Gtt>Att	p.V28I	UPB1_uc003aae.3_Missense_Mutation_p.R17H|C22orf45_uc002zzz.2_5'Flank|C22orf45_uc003aad.1_5'Flank	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	28					pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					AGTGAAGCGCGTTCTCTATGG	0.637000														167			37		0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606436	93606436	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93606436G>A	uc004aqz.3	+	1	461	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SYK_uc004ara.3_Missense_Mutation_p.A86T|SYK_uc004arb.3_Missense_Mutation_p.A86T|SYK_uc004arc.3_Missense_Mutation_p.A86T|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	86	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCCAGCCCCGCCGACCTCTG	0.667000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									99			18		0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16791297	16791297	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16791297T>G	uc002nes.3	+	2	462	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	124						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						ATGAAGGAGGTGGTGCGAGTC	0.542000														389			97		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73151789	73151789	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73151789T>C	uc004aid.3	-	24	4448	c.4204A>G	c.(4204-4206)Atc>Gtc	p.I1402V	TRPM3_uc004ahu.3_Missense_Mutation_p.I1244V|TRPM3_uc004ahv.3_Missense_Mutation_p.I1204V|TRPM3_uc004ahw.3_Missense_Mutation_p.I1274V|TRPM3_uc004ahx.3_Missense_Mutation_p.I1261V|TRPM3_uc004ahy.3_Missense_Mutation_p.I1264V|TRPM3_uc004ahz.3_Missense_Mutation_p.I1251V|TRPM3_uc004aia.3_Missense_Mutation_p.I1249V|TRPM3_uc004aib.3_Missense_Mutation_p.I1239V|TRPM3_uc004aic.3_Intron	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1427						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGACATAGATGTCTATACAC	0.498000														131			34		0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60498707G>A	uc002ybn.2	+	9	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_uc002ybr.2_Missense_Mutation_p.V488M|CDH4_uc002ybp.2_Missense_Mutation_p.V451M	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632000														71			21		0	0	1	0	0
NOVA2	4858	broad.mit.edu	37	19	46443145	46443145	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46443145G>A	uc002pdv.2	-	3	1503	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A		NM_002516	NP_002507	Q9UNW9	NOVA2_HUMAN	Homo sapiens neuro-oncological ventral antigen 2 (NOVA2), mRNA.	485						nucleus	RNA binding			endometrium(3)|large_intestine(5)|lung(13)	21		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179)		GGGGGTTTGAGGCCCTCACTC	0.647000														145			32		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72039244	72039244	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72039244C>T	uc002atb.1	+	11	2183	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L	THSD4_uc002ate.2_Silent_p.L342L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	702	TSP type-1 2.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCGCCAGGTTCTGTGCCGCCA	0.617000														100			29		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476148	21476148	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476148G>T	uc002npq.1	-	3	1818	c.1620C>A	c.(1618-1620)gcC>gcA	p.A540A	ZNF708_uc002npr.1_Silent_p.A476A|ZNF708_uc010ecs.1_Silent_p.A476A	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						ACTGGTTAAAGGCTTTGCCAC	0.348000														64			5		1.23904e-05	1.3016e-05	1	1	0
TTC21A	199223	broad.mit.edu	37	3	39178504	39178504	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39178504C>T	uc003cjc.2	+	23	3408	c.3231C>T	c.(3229-3231)aaC>aaT	p.N1077N	TTC21A_uc011ayx.1_Silent_p.N1029N|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Silent_p.N198N	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1077							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATCCAGACAACGAGGTTGTGG	0.567000														123			16		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90001610	90001610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90001610C>T	uc002fpf.2	+	4	2200	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	TUBB3_uc010ciz.1_Missense_Mutation_p.R179C|TUBB3_uc002fph.2_Missense_Mutation_p.R251C|TUBB3_uc002fpj.1_Missense_Mutation_p.R179C|TUBB3_uc002fpk.1_Missense_Mutation_p.R105C	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	251					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CGCTGACCTGCGCAAGCTGGC	0.687000														205			71		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106532208	106532208	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106532208C>A	uc001tlj.1	-	0	1604	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	75	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GCCAGAAAACCTCTCGGTGGC	0.667000														85			16		7.05477e-17	8.4384e-17	1	1	0
SASH1	23328	broad.mit.edu	37	6	148865907	148865907	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865907C>A	uc003qme.1	+	17	3776	c.3301C>A	c.(3301-3303)Ctg>Atg	p.L1101M	SASH1_uc011eeb.1_Missense_Mutation_p.L862M|SASH1_uc003qmf.1_Missense_Mutation_p.L511M	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	1101							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGAAAACAAGCTGCACGCTGA	0.557000														25			9		2.52707e-12	2.91184e-12	1	1	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032698	46032698	+	Silent	SNP	C	A	A	rs149614965		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46032698C>A	uc002zfo.1	+	0	703	c.681C>A	c.(679-681)tcC>tcA	p.S227S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	227	19 X 5 AA repeats of C-C-X(3).					keratin filament		p.P226S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						ctgtcccctcctgttgtgtcc	0.711000														196			22		8.10497e-08	8.79904e-08	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198968628	198968628	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198968628G>A	uc010fsp.3	+	4	3471	c.3073G>A	c.(3073-3075)Gag>Aag	p.E1025K	PLCL1_uc002uuv.4_Missense_Mutation_p.E946K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1025					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAGCAACTGAGAGCTTTGC	0.408000														63			16		0	0	1	0	0
RENBP	5973	broad.mit.edu	37	X	153208501	153208501	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153208501C>T	uc004fjo.2	-	5	663	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	RENBP_uc011mzh.1_Missense_Mutation_p.V165I	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	165					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	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)				N-Acetyl-D-glucosamine(DB00141)	ACCCAGTGGACGATCTGATCC	0.687000														78			26		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167812302	167812302	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167812302G>A	uc003lzu.3	+	2	409	c.316G>A	c.(316-318)Gct>Act	p.A106T	WWC1_uc003lzv.3_Missense_Mutation_p.A106T|WWC1_uc011den.2_Missense_Mutation_p.A106T	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	106					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGCCCAGGAGGCTCTGAGTGC	0.562000														103			29		0	0	1	0	0
PRPH2	5961	broad.mit.edu	37	6	42666183	42666183	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42666183C>T	uc003osk.3	-	2	1177	c.891G>A	c.(889-891)gaG>gaA	p.E297E		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	297					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TCTCAGATTCCTCGGGGTTGG	0.592000														131			34		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228476588	228476588	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228476588G>T	uc009xez.1	+	38	10383	c.10339_splice	c.e38+1	p.A3447_splice	OBSCN_uc001hsn.3_Splice_Site_p.A3447_splice|OBSCN_uc001hsq.1_Splice_Site_p.A703_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3447					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCACCGTGAAGGGTAATGACT	0.602000														117			20		1.01871e-10	1.15017e-10	1	1	0
C1orf222	339457	broad.mit.edu	37	1	1854876	1854876	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1854876G>A	uc001aik.3	-	7	1300	c.450C>T	c.(448-450)ggC>ggT	p.G150G	C1orf222_uc001ail.3_Silent_p.G150G			Q69YW0	CA222_HUMAN	RecName: Full=Uncharacterized protein C1orf222;	150								p.G150G(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGGGTCGCCGCCCTCCACGA	0.617000														37			7		0	0	1	0	0
IFLTD1	160492	broad.mit.edu	37	12	25699363	25699363	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25699363T>C	uc010sji.1	-	3	681	c.436A>G	c.(436-438)Aaa>Gaa	p.K146E	IFLTD1_uc001rgt.1_Missense_Mutation_p.K28E|IFLTD1_uc001rgs.2_Missense_Mutation_p.K125E|IFLTD1_uc010sjj.2_Missense_Mutation_p.K62E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K146E	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	125						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTTAAAGTTTTCTGAGTGTAG	0.358000														47			11		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148422323	148422323	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148422323C>T	uc003lpu.3	-	4	615	c.463G>A	c.(463-465)Gag>Aag	p.E155K	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_5'Flank|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.E148K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.E40K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	155							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATCTCTGTATCCTCC	0.448000														135			18		0	0	1	0	0
SAMD8	142891	broad.mit.edu	37	10	76928312	76928312	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76928312C>T	uc001jwx.2	+	3	791	c.688C>T	c.(688-690)Cga>Tga	p.R230*	SAMD8_uc001jwy.2_Nonsense_Mutation_p.R230*	NM_001174156	NP_001167627	Q96LT4	SAMD8_HUMAN	Homo sapiens sterile alpha motif domain containing 8 (SAMD8), transcript variant 1, mRNA.	230					sphingomyelin biosynthetic process	integral to membrane		p.L229L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AATACTTCTGCGAAGGCTCTG	0.453000														210			48		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32280525	32280525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32280525C>T	uc001bts.1	-	1	468	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPOCD1_uc001btu.3_Missense_Mutation_p.S137N|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	137					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGACCTGCTACAAAGTTT	0.607000														241			38		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234586199	234586199	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234586199C>T	uc001hwd.3	-	9	1836	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	612					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACTTAACATACTCTTGAACAA	0.328000														60			8		0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37580769	37580769	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37580769G>A	uc002xjg.3	+	3	1495	c.1454G>A	c.(1453-1455)gGa>gAa	p.G485E		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	455	Ser-rich.				cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TTTCCTCGAGGAACTCAATCT	0.473000														182			34		0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913214	6913214	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913214C>T	uc010rau.2	-	0	518	c.518G>A	c.(517-519)aGc>aAc	p.S173N		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGAGCAATGCTGTTACTGCC	0.498000														93			22		0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557266	40557266	+	Silent	SNP	G	A	A	rs137932986		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557266G>A	uc002hzo.3	-	1	835	c.612C>T	c.(610-612)gaC>gaT	p.D204D	PTRF_uc010wgi.2_Silent_p.D186D	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	204					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.D204D(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCACCGCCTCGTCCGACGAAA	0.672000														491			126		0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48413908	48413908	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48413908G>A	uc001jfa.1	-	1	1120	c.960C>T	c.(958-960)agC>agT	p.S320S		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	320					BMP signaling pathway|activin receptor signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of DNA replication|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCCCGGCGCTCCTTTTCC	0.612000														172			36		0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15842113	15842113	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15842113C>T	uc003gol.1	+	6	898	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	264					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GAGCTGGAATCGATTATAAGC	0.333000														133			29		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19162840	19162840	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19162840C>T	uc002nld.3	+	4	1121	c.689C>T	c.(688-690)aCc>aTc	p.T230I	ARMC6_uc002nlc.3_Missense_Mutation_p.T205I|ARMC6_uc010xql.2_Missense_Mutation_p.T137I|ARMC6_uc010xqm.2_Missense_Mutation_p.T230I	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	230							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGTGCCATCACCCATCATGGC	0.597000														97			19		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863673	64863673	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863673C>T	uc021viq.1	-	0	333	c.333G>A	c.(331-333)gcG>gcA	p.A111A	SERTAD2_uc002sde.2_Silent_p.A111A	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	111					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGACGGGGACGCCAGGTGGC	0.692000														102			39		0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19609351	19609351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19609351G>A	uc010xqt.2	+	7	1336	c.1024G>A	c.(1024-1026)Gca>Aca	p.A342T	GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Missense_Mutation_p.A361T|GATAD2A_uc010xqw.2_Missense_Mutation_p.A169T	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	342					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGAGTCTCCAGCAAGCCGACA	0.647000														104			43		0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764195	89764195	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764195C>T	uc002foj.3	-	2	909	c.822G>A	c.(820-822)ggG>ggA	p.G274G	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	274										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGGCCCGGCCCCCAGTGCCCC	0.697000														35			12		0	0	1	0	0
C7orf69	80099	broad.mit.edu	37	7	47859172	47859172	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47859172A>G	uc003tnz.4	+	2	391	c.346A>G	c.(346-348)Aat>Gat	p.N116D	PKD1L1_uc003tny.2_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Intron	NM_025031	NP_079307	Q9H7B7	CG069_HUMAN	Homo sapiens chromosome 7 open reading frame 69 (C7orf69), mRNA.	116						extracellular region				lung(2)	2						CATGGATGGAAATAACTGCTG	0.408000														43			11		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226566902	226566902	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226566902G>A	uc001hqd.4	-	11	1857	c.1686C>T	c.(1684-1686)atC>atT	p.I562I		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	562					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTCCTTTAACGATGTCCACCA	0.537000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						221			64		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35095227	35095227	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35095227C>T	uc003zwd.3	-	1	732	c.336G>A	c.(334-336)gaG>gaA	p.E112E	PIGO_uc003zwe.3_Silent_p.E112E|PIGO_uc003zwf.3_Silent_p.E112E|PIGO_uc003zwc.1_Silent_p.E112E|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	112					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GGGGCTGAATCTCCAGGATCC	0.597000														204			52		0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175439979	175439979	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175439979A>G	uc002uiz.3	-	3	411	c.311T>C	c.(310-312)tTc>tCc	p.F104S	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Missense_Mutation_p.F104S|WIPF1_uc010fqt.1_Missense_Mutation_p.F104S|WIPF1_uc002ujc.1_Missense_Mutation_p.F104S|WIPF1_uc002ujb.2_Missense_Mutation_p.F104S|WIPF1_uc010zep.1_Missense_Mutation_p.F104S	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	104					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TCCAGCCTGGAACAATCCTCC	0.592000														285			108		0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552374	1552374	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1552374G>A	uc010gai.3	-	2	842	c.743C>T	c.(742-744)gCc>gTc	p.A248V	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						ACCTCGGATGGCCTCAGACAA	0.612000														149			25		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360508	42360508	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360508A>G	uc001wvm.3	+	3	2639	c.1441A>G	c.(1441-1443)Atg>Gtg	p.M481V	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	481	Fibronectin type-III.					integral to membrane		p.M481I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGCTGGAACTATGTATGACTT	0.403000										HNSCC(30;0.082)				209			49		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299849	158299849	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299849C>A	uc001frx.3	-	2	508	c.400G>T	c.(400-402)Gga>Tga	p.G134*	CD1B_uc001frw.3_Nonsense_Mutation_p.G134*	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	134					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	p.R133K(1)		breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CCTAGAGCTCCCCTCAGGAAG	0.493000														251			91		2.78983e-34	3.52818e-34	1	1	0
SCARB1	949	broad.mit.edu	37	12	125302125	125302125	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125302125C>A	uc001ugp.3	-	1	508	c.255G>T	c.(253-255)caG>caT	p.Q85H	SCARB1_uc001ugm.4_Missense_Mutation_p.Q85H|SCARB1_uc001ugn.4_Missense_Mutation_p.Q85H|SCARB1_uc010tbd.2_Missense_Mutation_p.Q85H|SCARB1_uc001ugo.4_Missense_Mutation_p.Q85H	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	85					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	p.P84P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTCCCGCACCTGCGGCTTCT	0.622000														140			42		2.66277e-13	3.09974e-13	1	1	0
LRP1	4035	broad.mit.edu	37	12	57559588	57559588	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57559588C>T	uc001snd.3	+	16	2997	c.2531_splice	c.e16-1	p.A844_splice	LRP1_uc009zph.1_5'Flank|LRP1_uc009zpi.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	844					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGCCCACAGCGAACCCATCC	0.552000														151			32		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43319445	43319445	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43319445A>G	uc002yzw.3	-	12	1829	c.1587T>C	c.(1585-1587)gcT>gcC	p.A529A	C2CD2_uc002yzs.3_5'UTR|C2CD2_uc002yzt.3_Silent_p.A145A|C2CD2_uc002yzu.3_Silent_p.A361A|C2CD2_uc002yzv.3_Silent_p.A374A	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	529						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCATCAGGGCAGCGTCGTGGT	0.602000														76			7		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9020513	9020513	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9020513G>T	uc001quz.4	+	29	3891	c.3793G>T	c.(3793-3795)Gtt>Ttt	p.V1265F	A2ML1_uc001qva.1_Missense_Mutation_p.V845F|A2ML1_uc010sgm.2_Missense_Mutation_p.V765F|A2ML1_uc001qvb.1_Non-coding_Transcript	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1109						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GATCAACCTGGTTGTAAAATC	0.453000														138			27		2.65835e-16	3.16856e-16	1	1	0
PRDM4	11108	broad.mit.edu	37	12	108145246	108145246	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108145246G>A	uc001tmp.3	-	4	1509	c.1072C>T	c.(1072-1074)Caa>Taa	p.Q358*	PRDM4_uc001tmq.3_Intron	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	358					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTTCCATTTGCAGTGAAGGT	0.413000														101			7		0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141954930	141954930	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141954930G>A	uc003vxb.3	-	2	701	c.381C>T	c.(379-381)atC>atT	p.I127I	PRSS58_uc003vxc.4_Silent_p.I127I	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	127	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCAGAGATAGTTTGGT	0.403000														189			25		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7324541	7324541	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7324541C>T	uc002ggv.3	+	2	572	c.547C>T	c.(547-549)Cct>Tct	p.P183S	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	183					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				CCGCTTCCAGCCTACCGTAGA	0.617000														88			12		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57973480	57973480	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57973480A>C	uc002emt.2	-	15	1291	c.1226T>G	c.(1225-1227)gTt>gGt	p.V409G	CNGB1_uc010cdh.2_Missense_Mutation_p.V403G	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	409					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ctcctccccaacttcctccCA	0.572000														127			29		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320642	56320642	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56320642C>T	uc010ygf.2	-	4	2045	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	NLRP11_uc002qlz.3_Missense_Mutation_p.R346H|NLRP11_uc002qmb.3_Missense_Mutation_p.R346H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	445	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAACTTGTAACGGTCTTTATG	0.468000														88			24		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16336966	16336966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16336966G>A	uc002gpy.3	+	12	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_uc002gpz.3_Missense_Mutation_p.V260I	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592000														197			27		0	0	1	0	0
MIER2	54531	broad.mit.edu	37	19	308850	308850	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:308850C>T	uc002lok.1	-	10	1069	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTGCTGGGCGAAGTAGTCG	0.677000														202			30		0	0	1	0	0
AIFM2	84883	broad.mit.edu	37	10	71880912	71880912	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71880912C>T	uc010qjg.2	-	2	366	c.350G>A	c.(349-351)gGc>gAc	p.G117D	AIFM2_uc021psi.1_Missense_Mutation_p.G117D|AIFM2_uc001jqp.2_Missense_Mutation_p.G117D	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	117					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						ATTAAACTTGCCCGGGAAGGG	0.517000														139			31		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124738946	124738946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124738946G>A	uc001qbc.3	+	1	578	c.409G>A	c.(409-411)Gac>Aac	p.D137N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	137	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCGCGGCCGGACGAAGGTGT	0.687000														31			5		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65300199	65300199	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65300199G>T	uc001oea.1	+	8	1230	c.1153G>T	c.(1153-1155)Gtc>Ttc	p.V385F	SCYL1_uc009yqk.3_Missense_Mutation_p.V385F|SCYL1_uc001oeb.1_Missense_Mutation_p.V385F|SCYL1_uc001oec.1_Missense_Mutation_p.V385F|SCYL1_uc001oee.1_Missense_Mutation_p.V29F	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	385					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CGAGCCAACAGTCAACACCCA	0.592000														79			18		1.00905e-13	1.17906e-13	1	1	0
CDC14B	8555	broad.mit.edu	37	9	99266070	99266070	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99266070G>A	uc004awj.3	-	14	1913	c.1461_splice	c.e14-1	p.S487_splice	CDC14B_uc004awk.3_Splice_Site_p.T448_splice|CDC14B_uc004awl.3_Splice_Site|CDC14B_uc004awi.3_Splice_Site_p.S450_splice	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	487					DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GAAATGGAGAGACTACAGGGG	0.398000														61			13		0	0	1	0	0
YRDC	79693	broad.mit.edu	37	1	38272774	38272774	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38272774G>A	uc001cca.1	-	2	517	c.504_splice	c.e2+1	p.P168_splice	C1orf122_uc001ccb.1_5'UTR	NM_024640	NP_078916	Q86U90	YRDC_HUMAN	Homo sapiens yrdC domain containing (E. coli) (YRDC), nuclear gene encoding mitochondrial protein, mRNA.	168	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACTCACAGGCGTAAAAGG	0.517000														97			22		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488858	17488858	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17488858C>T	uc002zlw.3	-	0	255	c.147G>A	c.(145-147)tcG>tcA	p.S49S	GAB4_uc010gqs.1_Silent_p.S49S	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	49	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCTCGGGGGGCGACTTCCTCA	0.687000														52			11		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192138	152192138	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192138G>T	uc001ezt.1	-	2	2043	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	656					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)			AGACTGGCCAGATCCAGAGCC	0.587000														518			84		1.68136e-41	2.13929e-41	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123898163	123898163	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123898163G>T	uc004bkx.1	+	12	2136	c.2105G>T	c.(2104-2106)aGt>aTt	p.S702I	CNTRL_uc004bky.1_Missense_Mutation_p.S306I|CNTRL_uc004bkz.1_Missense_Mutation_p.S150I|CNTRL_uc004bla.1_Missense_Mutation_p.S150I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	702					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GGAGATCTCAGTGCCTATGAA	0.493000														112			12		1.05317e-09	1.17384e-09	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43161377	43161377	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161377C>T	uc002yzn.1	-	7	2024	c.1976G>A	c.(1975-1977)cGg>cAg	p.R659Q		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	659						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCGCCCCGATGCAGGAG	0.672000														205			27		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53652554	53652554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53652554C>T	uc002qbc.2	-	2	509	c.82G>A	c.(82-84)Gct>Act	p.A28T	ZNF347_uc002qbb.2_Missense_Mutation_p.A28T|ZNF347_uc010eql.2_Missense_Mutation_p.A28T	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P27P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GTCCTCTGAGCGGGGTCCAGG	0.507000														175			43		0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97563133	97563133	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97563133C>A	uc004ava.3	+	3	1348	c.1213C>A	c.(1213-1215)Cct>Act	p.P405T	C9orf3_uc004aux.2_Missense_Mutation_p.P405T|C9orf3_uc004auy.3_Missense_Mutation_p.P405T|C9orf3_uc004auz.1_Missense_Mutation_p.P405T	NM_001193329	NP_001180258	Q8N6M6	AMPO_HUMAN	Homo sapiens chromosome 9 open reading frame 3 (C9orf3), transcript variant 1, mRNA.	405					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGTCTTTGCCCCTGTGTGCCT	0.582000														152			20		1.33834e-09	1.48855e-09	1	1	0
DPY19L2P3	442524	broad.mit.edu	37	7	29781845	29781845	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29781845G>A	uc003tai.3	+	10		c.947G>A								Homo sapiens dpy-19-like 2 pseudogene 3 (C. elegans) (DPY19L2P3), transcript variant 1, non-coding RNA.																		CATCCTGCTCGAAGATGCCAG	0.448000														28			5		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129107205	129107205	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129107205G>A	uc011koy.2	+	16	1831	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	FAM40B_uc003vow.3_Silent_p.S597S|FAM40B_uc011koz.2_Silent_p.S89S	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	597										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AATATGTATCGCAACATTTGG	0.353000														37			8		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628304	46628304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628304G>A	uc002inn.3	-	1	1088	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	HOXB3_uc010wlm.2_Missense_Mutation_p.R157W|HOXB3_uc010dbf.3_Missense_Mutation_p.R230W|HOXB3_uc010dbg.3_Missense_Mutation_p.R230W|HOXB3_uc002ino.3_Missense_Mutation_p.R230W|HOXB3_uc010wlk.2_Missense_Mutation_p.R98W|HOXB3_uc010wll.2_Missense_Mutation_p.R157W	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	230					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TTGATCTGCCGCTCGCTGAGG	0.612000														377			36		0	0	1	0	0
SPCS3	60559	broad.mit.edu	37	4	177249379	177249379	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177249379T>G	uc003iur.4	+	4	579	c.441T>G	c.(439-441)tcT>tcG	p.S147S		NM_021928	NP_068747	P61009	SPCS3_HUMAN	Homo sapiens signal peptidase complex subunit 3 homolog (S. cerevisiae) (SPCS3), mRNA.	147					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(2)	2		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)		TGACCCTGTCTTGGAACGTCG	0.363000														70			5		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346332	233346332	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346332A>G	uc002vsv.2	-	13	2078	c.1873T>C	c.(1873-1875)Tat>Cat	p.Y625H	ECEL1_uc010fya.1_Missense_Mutation_p.Y623H|ECEL1_uc010fyb.1_Missense_Mutation_p.Y332H	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	625					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCGGTCATACTGGCCCCCT	0.647000														100			22		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88229394	88229394	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88229394C>A	uc003pme.3	-	13	1204	c.1144G>T	c.(1144-1146)Gga>Tga	p.G382*	RARS2_uc003pmc.3_Nonsense_Mutation_p.G207*|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	382					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0456)		GTCTTCATTCCCTGTACTACT	0.403000														66			15		1.15088e-07	1.24477e-07	1	1	0
MLLT10	8028	broad.mit.edu	37	10	22019972	22019972	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22019972C>T	uc021pny.1	+	15	2207	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	MLLT10_uc001iqs.3_Missense_Mutation_p.T752I|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.T736I|MLLT10_uc001ira.3_Missense_Mutation_p.T193I|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	752	Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GAACAGGGTACTCCTAGTGAC	0.433000			T	"""MLL, PICALM, CDK6"""	AL									166			28		0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371057	48371057	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48371057G>A	uc001jex.3	+	1	687	c.525G>A	c.(523-525)gaG>gaA	p.E175E	ZNF488_uc021ppx.1_Silent_p.E175E	NM_153034	NP_694579	Q96MN9	ZN488_HUMAN	Homo sapiens zinc finger protein 488 (ZNF488), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AGAGGCCTGAGCTAACCTCAG	0.567000														137			37		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180046743	180046743	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180046743C>T	uc003mlz.4	-	17	2648	c.2569G>A	c.(2569-2571)Ggg>Agg	p.G857R	FLT4_uc003mma.4_Missense_Mutation_p.G857R|FLT4_uc003mmb.1_Missense_Mutation_p.G390R	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	857	Protein kinase.		G -> R (in LMPH1A; loss of kinase activity).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACCACCTTCCCGAAGGCGCCG	0.672000														210			51		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12576512	12576512	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12576512T>G	uc002mtv.4	-	3	385	c.224A>C	c.(223-225)gAa>gCa	p.E75A	ZNF709_uc002mtw.4_Missense_Mutation_p.E43A|ZNF709_uc002mtx.4_Missense_Mutation_p.E75A	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTGACTACCTTCTTTCCTTTC	0.328000														44			13		0	0	1	0	0
C20orf196	149840	broad.mit.edu	37	20	5844104	5844104	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5844104C>A	uc002wmf.3	+	2	700	c.613C>A	c.(613-615)Ctg>Atg	p.L205M		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	205										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						AATGAAAGACCTGTAACTGGT	0.512000														133			25		1.1804e-14	1.38988e-14	1	1	0
FAM179B	23116	broad.mit.edu	37	14	45432455	45432455	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432455C>A	uc001wvw.3	+	0	1040	c.831C>A	c.(829-831)ttC>ttA	p.F277L	FAM179B_uc001wvv.3_Missense_Mutation_p.F277L|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.F277L|FAM179B_uc001wvu.3_Missense_Mutation_p.F277L	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	277							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGACAGCTTTCTCCGCACTTC	0.507000														161			33		1.74807e-11	1.99175e-11	1	1	0
NGFR	4804	broad.mit.edu	37	17	47590307	47590307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47590307G>A	uc002ioz.4	+	5	1345	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H		NM_002507	NP_002498	P08138	TNR16_HUMAN	Homo sapiens nerve growth factor receptor (NGFR), mRNA.	407	Death.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCCTGCGCCGCATCCAGCGA	0.701000														79			18		0	0	1	0	0
ZNF43	7594	broad.mit.edu	37	19	21991035	21991035	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21991035C>T	uc002nqj.3	-	3	1934	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	ZNF43_uc002nql.3_Missense_Mutation_p.A596T|ZNF43_uc002nqm.3_Missense_Mutation_p.A596T|ZNF43_uc010ecv.3_Missense_Mutation_p.A596T|ZNF43_uc002nqk.3_Missense_Mutation_p.A532T	NM_003423	NP_003414	P17038	ZNF43_HUMAN	Homo sapiens zinc finger protein 43 (ZNF43), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TGGGTAAAAGCTTTGCCACAT	0.353000														53			7		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92531437	92531437	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92531437C>A	uc001pdj.4	+	8	5275	c.5258C>A	c.(5257-5259)gCt>gAt	p.A1753D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1753	Cadherin 15.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTTCCAATGCTACAGTCAAT	0.443000										TCGA Ovarian(4;0.039)				68			4		1	1	1	1	0
SYT4	6860	broad.mit.edu	37	18	40853651	40853651	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:40853651A>C	uc002law.3	-	1	1112	c.743T>G	c.(742-744)tTt>tGt	p.F248C	SYT4_uc010dng.3_Intron|SYT4_uc010xcm.2_Missense_Mutation_p.F230C	NM_020783	NP_065834	Q9H2B2	SYT4_HUMAN	Homo sapiens synaptotagmin IV (SYT4), mRNA.	248	C2 1.|Phospholipid binding (Probable).					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ATCTCTTGAAAACCTGTCAAA	0.368000														75			14		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16007925	16007925	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16007925A>G	uc001mme.3	-	14	2080	c.2047T>C	c.(2047-2049)Tat>Cat	p.Y683H	SOX6_uc001mmd.3_Missense_Mutation_p.Y646H|SOX6_uc001mmf.3_Missense_Mutation_p.Y643H|SOX6_uc001mmg.3_Missense_Mutation_p.Y650H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	670					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTTCATAATAAGGTTGCTTC	0.438000														148			27		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014328	70014328	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014328T>C	uc003dnz.3	+	9	1655	c.1492T>C	c.(1492-1494)Tcc>Ccc	p.S498P	MITF_uc011bgb.2_Missense_Mutation_p.S446P|MITF_uc003doa.3_Missense_Mutation_p.S497P|MITF_uc003dob.3_Missense_Mutation_p.S482P|MITF_uc021xam.1_Missense_Mutation_p.S335P|MITF_uc003doe.3_Missense_Mutation_p.S391P|MITF_uc003dof.3_Missense_Mutation_p.S397P	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	504					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		TTCCTCAGTGTCCCCCGGAGC	0.532000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							122			33		0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37324155	37324155	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37324155C>T	uc003jku.1	-	19	2264	c.2146G>A	c.(2146-2148)Ggt>Agt	p.G716S	NUP155_uc003jkt.1_Missense_Mutation_p.G657S|NUP155_uc010iuz.1_Missense_Mutation_p.G716S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	716					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	p.K715R(1)		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)			TCCTGCAAACCCTTTAGTTCT	0.353000														54			9		0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55516100	55516100	+	Missense_Mutation	SNP	C	T	T	rs104894499		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55516100C>T	uc002aco.3	-	5	685	c.454G>A	c.(454-456)Gca>Aca	p.A152T	RAB27A_uc002acr.3_Missense_Mutation_p.A152T|RAB27A_uc002acp.3_Missense_Mutation_p.A152T|RAB27A_uc002acq.3_Missense_Mutation_p.A152T	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	152			A -> P (in GS2; may affect GTP binding; interferes with melanosome transport).		small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity	p.L151L(1)		endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TATTTCTCTGCGAGTGCTATG	0.393000														278			55		0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121429651	121429651	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429651G>A	uc001lem.3	+	1	775	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	BAG3_uc001lel.3_Missense_Mutation_p.A157T	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	157					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGTGGCAGCGGCGGCGGCAGC	0.677000														160			24		0	0	1	0	0
NT5M	56953	broad.mit.edu	37	17	17250251	17250251	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17250251G>A	uc002grf.3	+	4	862	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NT5M_uc002grg.3_Missense_Mutation_p.R232Q	NM_020201	NP_064586	Q9NPB1	NT5M_HUMAN	Homo sapiens 5',3'-nucleotidase, mitochondrial (NT5M), nuclear gene encoding mitochondrial protein, mRNA.	226					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GACAGCAAGCGGCCCTGCTGA	0.682000														109			17		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799846	5799846	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799846A>C	uc010qzn.2	-	0	52	c.19T>G	c.(19-21)Tta>Gta	p.L7V	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AACCAGCATAATGAATTAAAT	0.348000														97			31		0	0	1	0	0
NDUFB1	4707	broad.mit.edu	37	14	92588068	92588068	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92588068G>A	uc001yaf.3	-	0	86	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	NM_004545	NP_004536	O75438	NDUB1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GCGACCTCGGGACCTGCCATT	0.597000														184			26		0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836666	139836666	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836666G>A	uc004cjx.3	-	5	1112	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Silent_p.L58L|FBXW5_uc004cjz.3_Silent_p.L58L	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	310							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGCCCCTCCAGCACGCGGTCC	0.706000														30			7		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27680845	27680845	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27680845T>C	uc002rku.3	-	28	3027	c.2976_splice	c.e28-1	p.R992_splice		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	992					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACATATAGCCTGGGGAAGGAG	0.542000														135			49		0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81889134	81889134	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81889134G>T	uc003ybz.3	-	8	1655	c.944C>A	c.(943-945)gCt>gAt	p.A315D		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	315					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			TGAGTACATAGCTGAGATCTA	0.473000														120			37		2.38352e-08	2.60952e-08	1	1	0
NALCN	259232	broad.mit.edu	37	13	101777028	101777028	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101777028C>T	uc001vox.1	-	17	2312	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	708						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.R708R(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAGACTTGCGAAGCTGAAA	0.328000														132			29		0	0	1	0	0
EIF5	1983	broad.mit.edu	37	14	103805668	103805668	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103805668C>T	uc001ymt.3	+	7	1399	c.904C>T	c.(904-906)Cga>Tga	p.R302*	EIF5_uc001ymq.3_Nonsense_Mutation_p.R302*|EIF5_uc001ymr.3_Nonsense_Mutation_p.R302*|EIF5_uc001ymu.3_Nonsense_Mutation_p.R302*	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	302	W2.				RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCATTTCCTACGAGTAAGCAA	0.393000														104			14		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251325	25251325	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251325G>A	uc002dod.4	-	6	3123	c.2716C>T	c.(2716-2718)Cgg>Tgg	p.R906W	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R702W	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	906					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTATTCTCCGATGTTCTCGA	0.458000														94			24		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50769195	50769195	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50769195G>A	uc002xwl.3	-	5	1885	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Silent_p.V510V|ZFP64_uc002xwn.3_Silent_p.V458V	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I511F(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGGCAGCCTGGACGATGGTGT	0.647000														113			21		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61890627	61890627	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61890627A>C	uc002jbu.3	+	15	1972	c.1715A>C	c.(1714-1716)aAc>aCc	p.N572T	DDX42_uc002jbv.3_Missense_Mutation_p.N572T|DDX42_uc002jbw.1_Missense_Mutation_p.N308T|DDX42_uc002jbx.3_Missense_Mutation_p.N308T|DDX42_uc002jby.3_Missense_Mutation_p.N118T|DDX42_uc010wps.2_5'Flank	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	572	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding	p.N572Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						ACTGTCATTAACTATGATGTG	0.443000														97			23		0	0	1	0	0
MUT	4594	broad.mit.edu	37	6	49426795	49426795	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49426795C>A	uc003ozg.4	-	2	650	c.385_splice	c.e2+1	p.A129_splice		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	129					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAATCTCACCCTTAATGTTG	0.348000														56			9		3.09899e-07	3.33423e-07	1	1	0
ZNF718	255403	broad.mit.edu	37	4	86629	86629	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86629C>A	uc003fzv.1	+	5	1337	c.1181C>A	c.(1180-1182)gCt>gAt	p.A394D	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.A180D|ZNF718_uc011but.1_Missense_Mutation_p.A180D	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TCACACCTTGCTAAACATAAG	0.388000														37			13		9.05144e-12	1.03561e-11	1	1	0
CADM2	253559	broad.mit.edu	37	3	85961642	85961642	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:85961642G>A	uc003dql.3	+	4	628	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	CADM2_uc003dqj.3_Missense_Mutation_p.E208K|CADM2_uc003dqk.3_Missense_Mutation_p.E217K|CADM2_uc003dqm.2_Missense_Mutation_p.E100K|CADM2_uc021xay.1_Missense_Mutation_p.E100K|CADM2_uc021xaz.1_Missense_Mutation_p.E100K|CADM2_uc021xba.1_Missense_Mutation_p.E100K	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	208	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		AGTAGATCACGAATCCCTCAA	0.502000														79			21		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55597497	55597497	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55597497C>T	uc010igr.3	+	14	2232	c.2145C>T	c.(2143-2145)agC>agT	p.S715S	KIT_uc010igs.3_Silent_p.S711S|KIT_uc010igt.2_Splice_Site_p.C163_splice	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	715	Protein kinase.		S -> N (in dbSNP:rs56094246).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S715del(14)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					64			14		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200969089	200969089	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200969089G>A	uc001gvs.2	-	11	2006	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	KIF21B_uc009wzl.2_Silent_p.P563P|KIF21B_uc001gvr.2_Silent_p.P563P|KIF21B_uc010ppn.2_Silent_p.P563P	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	563					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTTCCTTCTCGGGGCTGCTCA	0.622000														175			62		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563619	36563619	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563619C>T	uc001bzv.2	-	1	1670	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	COL8A2_uc001bzw.2_Missense_Mutation_p.V490M	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	555	Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGCCCAGCACGGCACCCTCC	0.721000														41			6		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49446033	49446033	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49446033C>T	uc001jgi.3	-	8	1252	c.921_splice	c.e8+1	p.K307_splice	FRMPD2_uc001jgh.3_Splice_Site_p.K276_splice|FRMPD2_uc001jgj.3_Splice_Site_p.K276_splice	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	307					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		ATTTTGCTTACCTTGCTCCTT	0.577000														265			57		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147030054	147030054	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147030054C>T	uc010jgo.1	-	2	832	c.684G>A	c.(682-684)gaG>gaA	p.E228E	JAKMIP2_uc003loq.1_Silent_p.E228E|JAKMIP2_uc011dbx.1_Silent_p.E186E|JAKMIP2_uc003lor.1_Silent_p.E228E|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	228						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTGGGTCTCCAGTTCCT	0.443000														90			17		0	0	1	0	0
FOXA3	3171	broad.mit.edu	37	19	46376245	46376245	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46376245G>A	uc002pdr.3	+	1	1179	c.982G>A	c.(982-984)Ggg>Agg	p.G328R		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	328					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TGGGGGCTACGGGGCTGAAGG	0.562000														57			11		0	0	1	0	0
EI24	9538	broad.mit.edu	37	11	125451139	125451139	+	Nonsense_Mutation	SNP	G	T	T	rs3017282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125451139G>T	uc009zbl.3	+	8	948	c.706G>T	c.(706-708)Gaa>Taa	p.E236*	EI24_uc001qca.3_Nonsense_Mutation_p.E236*|EI24_uc001qcb.3_Intron|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Nonsense_Mutation_p.E222*|EI24_uc010sbf.2_Non-coding_Transcript	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	236					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GTCTAACATAGAAAGGAATTG	0.368000														46			5		1.23904e-05	1.3016e-05	1	1	0
TXLNG	55787	broad.mit.edu	37	X	16855753	16855753	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16855753C>T	uc004cxq.2	+	7	1153	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	TXLNG_uc010ney.2_Missense_Mutation_p.T234I|TXLNG_uc004cxr.1_Non-coding_Transcript	NM_018360	NP_060830	Q9NUQ3	TXLNG_HUMAN	Homo sapiens taxilin gamma (TXLNG), transcript variant 1, mRNA.	366					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAATTCCAGACTACCATGGCA	0.313000														36			8		0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147649640	147649640	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147649640C>A	uc003lpc.3	+	1	208	c.5C>A	c.(4-6)gCt>gAt	p.A2D	AK054753_uc003lpb.1_Intron|SPINK13_uc010jgt.3_Non-coding_Transcript	NM_001040129	NP_001035218	Q1W4C9	ISK13_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 13 (putative) (SPINK13), mRNA.	2						extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						GATCAAATGGCTGCCTTTCCC	0.408000														184			11		3.07112e-06	3.25591e-06	1	1	0
ETFDH	2110	broad.mit.edu	37	4	159627874	159627874	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627874C>A	uc003iqb.3	+	11	1894	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	ETFDH_uc011cjg.2_Missense_Mutation_p.S474Y|ETFDH_uc010iqr.3_Missense_Mutation_p.S118Y|ETFDH_uc011cjh.2_Missense_Mutation_p.S460Y|ETFDH_uc010iqs.3_Missense_Mutation_p.S443Y	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	521					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CTCTTGTCATCTGTGGCTCTG	0.438000														259			65		3.94839e-29	4.96391e-29	1	1	0
WDR34	89891	broad.mit.edu	37	9	131397201	131397201	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397201C>A	uc004bvq.1	-	7	1106	c.982_splice	c.e7-1	p.H328_splice		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	328						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGGGGATGCTGTGGAGAAA	0.627000											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			17		2.23348e-06	2.37297e-06	1	1	0
MLN	4295	broad.mit.edu	37	6	33768931	33768931	+	Missense_Mutation	SNP	G	A	A	rs140882390	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33768931G>A	uc003off.1	-	1	81	c.10C>T	c.(10-12)Cgt>Tgt	p.R4C	MLN_uc003ofg.1_Missense_Mutation_p.R4C|MLN_uc011drn.1_Missense_Mutation_p.R4C	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	4					G-protein coupled receptor protein signaling pathway|cell-cell signaling	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						ACAGCCTTACGGGATACCATC	0.577000														152			35		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30906676	30906676	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30906676C>T	uc001rji.1	-	0	773	c.22G>A	c.(22-24)Gca>Aca	p.A8T	CAPRIN2_uc001rjg.1_5'Flank|CAPRIN2_uc001rjh.1_Missense_Mutation_p.A8T|CAPRIN2_uc001rjk.4_Missense_Mutation_p.A8T|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.A8T	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	8					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCCAATGATGCTTGAGATACT	0.433000											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		181			22		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073073	134073073	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073073C>T	uc003iha.3	+	0	2604	c.1778C>T	c.(1777-1779)tCg>tTg	p.S593L	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.S593L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	593	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTGCCCCGCTCGGCGGAGCCG	0.657000														151			41		0	0	1	0	0
PM20D2	135293	broad.mit.edu	37	6	89868116	89868116	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89868116G>A	uc003pmz.3	+	4	1080	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	329							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		AGCCTATATGGAAAATGGAAG	0.318000														80			17		0	0	1	0	0
MYOF	26509	broad.mit.edu	37	10	95082866	95082866	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95082866C>T	uc001kin.3	-	47	5548	c.5425G>A	c.(5425-5427)Gga>Aga	p.G1809R	MYOF_uc001kio.3_Missense_Mutation_p.G1796R|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1809					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCCTCTCCTGTGATGCTT	0.443000														252			46		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4449013	4449013	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4449013C>T	uc002fxz.4	-	14	2027	c.1965G>A	c.(1963-1965)ttG>ttA	p.L655L	MYBBP1A_uc002fyb.4_Silent_p.L655L|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	655					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGGGCCAGCAAGATCTCCA	0.682000														51			15		0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92675933	92675933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92675933C>T	uc001khe.1	-	5	894	c.646G>A	c.(646-648)Gat>Aat	p.D216N		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	216					cellular lipid metabolic process|defense response|signal transduction		DNA binding	p.D216Y(2)|p.D216D(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				AATACCTTATCTCGGGCGCTA	0.522000														78			18		0	0	1	0	0
WDR63	126820	broad.mit.edu	37	1	85570251	85570251	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85570251C>T	uc001dkt.3	+	13	1715	c.1524C>T	c.(1522-1524)tgC>tgT	p.C508C	WDR63_uc009wcl.3_Silent_p.C469C	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	508										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGGAATATGCTGTCAACTTG	0.328000														35			10		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26951010	26951010	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951010C>T	uc002rhn.2	+	1	922	c.759C>T	c.(757-759)gaC>gaT	p.D253D		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	253					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCCGAGGACGAGAAGCGCG	0.682000														27			20		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12371629	12371629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12371629G>A	uc001atv.3	+	27	6910	c.6769G>A	c.(6769-6771)Gaa>Aaa	p.E2257K	VPS13D_uc001atw.3_Missense_Mutation_p.E2257K|VPS13D_uc001atx.3_Missense_Mutation_p.E1445K|VPS13D_uc001aty.1_5'UTR	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2257					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CAACCTGGGAGAACCCATAGA	0.438000														180			23		0	0	1	0	0
RRM1	6240	broad.mit.edu	37	11	4128754	4128754	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4128754G>A	uc001lyw.4	+	3	695	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	RRM1_uc009yeh.1_Missense_Mutation_p.A29T|RRM1_uc009yei.3_Missense_Mutation_p.A86T|RRM1_uc010qyc.2_Missense_Mutation_p.A29T	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	126					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TATTGTTCTGGCCAATAAAGA	0.323000														63			12		0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767015	105767015	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:105767015A>C	uc004bbs.2	+	3	289	c.219A>C	c.(217-219)caA>caC	p.Q73H		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	73	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATCGTAGACAACCATTATGGA	0.373000														50			6		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66456195	66456195	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66456195G>A	uc001ojd.3	-	29	6232	c.6160C>T	c.(6160-6162)Cgg>Tgg	p.R2054W	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2054					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCTCGTGCCGCTTGATGAGG	0.637000														107			24		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134991	233134991	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233134991G>A	uc001hvl.2	-	30	5698	c.5463C>T	c.(5461-5463)tgC>tgT	p.C1821C	PCNXL2_uc001hvk.1_Silent_p.C473C|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1821						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGGCTGATCGCAGGAGGAGT	0.547000														47			13		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8931980	8931980	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8931980G>A	uc002mkn.1	-	2	353	c.123C>T	c.(121-123)ggC>ggT	p.G41G	ZNF558_uc010xkh.1_5'UTR|ZNF558_uc010dwg.1_Silent_p.G41G	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						AGGTTACCAAGCCCTAAAGCA	0.587000														159			37		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120941850	120941850	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120941850C>T	uc003eec.4	+	11	1097	c.957_splice	c.e11-1	p.S319_splice	STXBP5L_uc011bji.2_Splice_Site_p.S319_splice	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	319					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCCTATGTAGCGAACCATTCA	0.368000														92			14		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467777	74467777	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467777C>T	uc002axg.1	+	1	860	c.578C>T	c.(577-579)aCa>aTa	p.T193I	ISLR_uc002axh.1_Missense_Mutation_p.T193I|ISLR_uc021sqf.1_Missense_Mutation_p.T193I	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	193	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGCTCAAGACATGGGCCCTG	0.657000														124			32		0	0	1	0	0
LCMT2	9836	broad.mit.edu	37	15	43621480	43621480	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43621480C>A	uc001zrg.3	-	0	1341	c.1208G>T	c.(1207-1209)aGc>aTc	p.S403I	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	403					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GCCTATTTGGCTGCCTTTCCA	0.532000														141			47		2.24722e-20	2.74335e-20	1	1	0
RHBG	57127	broad.mit.edu	37	1	156347099	156347099	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156347099G>T	uc010pho.2	+	1	233	c.195G>T	c.(193-195)caG>caT	p.Q65H	RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_Non-coding_Transcript|RHBG_uc001fos.3_5'UTR|RHBG_uc009wrz.3_5'UTR|RHBG_uc001for.3_Missense_Mutation_p.Q35H	NM_020407	NP_065140	Q9H310	RHBG_HUMAN	Homo sapiens Rh family, B glycoprotein (gene/pseudogene) (RHBG), transcript variant 1, mRNA.	65					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CAGGCTTCCAGGACGTGCATG	0.637000														288			73		2.94884e-30	3.71329e-30	1	1	0
SGK2	10110	broad.mit.edu	37	20	42208675	42208675	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42208675C>T	uc002xkv.3	+	10	1312	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	SGK2_uc002xkr.3_Silent_p.L305L|SGK2_uc010ggm.3_Silent_p.L305L|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Silent_p.L305L	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	365	AGC-kinase C-terminal.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGAGGCTAACTCCACC	0.478000														88			17		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53227585	53227585	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53227585C>T	uc001sbb.3	-	0	493	c.460G>A	c.(460-462)Gcc>Acc	p.A154T		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	154	Coil 1A.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGGAGGCGAACTTGTTG	0.612000														309			61		0	0	1	0	0
GNRHR	2798	broad.mit.edu	37	4	68610471	68610471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68610471C>T	uc003hdn.3	-	1	2308	c.557G>A	c.(556-558)aGc>aAc	p.S186N	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Intron	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	186					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	CTGTCCAGAGCTGTCTGCTAG	0.358000														134			29		0	0	1	0	0
UQCRFS1	7386	broad.mit.edu	37	19	29698753	29698753	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:29698753A>G	uc002nsd.2	-	1	638	c.527T>C	c.(526-528)gTg>gCg	p.V176A		NM_006003	NP_005994	P47985	UCRI_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 (UQCRFS1), nuclear gene encoding mitochondrial protein, mRNA.	176					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex III	2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			TCTATGACGCACAAACAGGGG	0.453000														215			35		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46244850	46244850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46244850G>A	uc003cph.1	-	1	1026	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.R319C	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	319					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGCCACACGCCTGTGGAAC	0.592000														90			16		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148768238	148768238	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148768238G>A	uc003wfh.2	-	3	1763	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ZNF786_uc011kuk.1_Silent_p.C505C|ZNF786_uc003wfi.2_Silent_p.C456C	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGCGCTTGTCGCACTTCAGGC	0.632000														70			13		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643866	20643866	+	Silent	SNP	G	A	A	rs142031202	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20643866G>A	uc001ytg.3	-	22	3613	c.2904C>T	c.(2902-2904)tgC>tgT	p.C968C	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.C968C					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GATTCAATGGGCAAACGTGAC	0.468000														203			21		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965133	48965133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965133G>A	uc002pje.1	+	1	557	c.152G>A	c.(151-153)cGc>cAc	p.R51H	KCNJ14_uc002pjf.1_Missense_Mutation_p.R51H	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	51						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCCGCGGTCGCTTCGTCAAG	0.701000														24			9		0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18536312	18536312	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536312C>T	uc001mor.3	-	3	410	c.270G>A	c.(268-270)aaG>aaA	p.K90K	TSG101_uc001mos.2_Silent_p.K38K|TSG101_uc009yhs.2_Intron	NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	90	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AACTAGTAGGCTTAACAAAAC	0.338000														144			24		0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708458	29708458	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29708458C>T	uc003afa.1	+	6	2214	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	GAS2L1_uc010gvm.1_Missense_Mutation_p.P446L|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.P672L|GAS2L1_uc003afd.1_3'UTR|GAS2L1_uc003afe.1_3'UTR	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	673					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TCAGTCACCCCGAGGGCTGAG	0.637000														63			12		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211580	78211580	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78211580G>A	uc010bky.2	-	10	951	c.187C>T	c.(187-189)Cag>Tag	p.Q63*						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TCCACCTCCTGCCTCAGGTGT	0.542000														167			43		0	0	1	0	0
ZNF221	7638	broad.mit.edu	37	19	44471258	44471258	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44471258A>C	uc002oxx.2	+	5	1932	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	ZNF221_uc010ejb.1_Missense_Mutation_p.K535T|ZNF221_uc010xws.1_Missense_Mutation_p.K535T	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGCTATACAAATGTGAGCAG	0.433000														134			34		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	117437	117437	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117437C>T	uc003zfz.3	-	0	981	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	228	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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	p.R228H(2)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	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)		AGGGCCTGGGCGGGGGTTGTG	0.741000														213			26		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16699492	16699492	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16699492A>G	uc010cpj.1	+	16		c.4030A>G			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc010vwq.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		TTCCAAGTGTAAGACCCACTG	0.522000														158			17		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88240658	88240658	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240658A>C	uc003pme.3	-	8	675	c.615T>G	c.(613-615)gtT>gtG	p.V205V	RARS2_uc003pmc.3_Silent_p.V30V|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	205					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0456)		CTTGTACATAAACCTAAAAGT	0.358000														60			12		0	0	1	0	0
HAND2	9464	broad.mit.edu	37	4	174450017	174450017	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174450017G>A	uc003itg.1	-	1	410	c.320C>T	c.(319-321)gCg>gTg	p.A107V	NBLA00301_uc003itj.3_5'Flank|NBLA00301_uc010irf.3_5'Flank|NBLA00301_uc010irg.3_5'Flank|NBLA00301_uc011ckd.2_5'Flank|NBLA00301_uc010irh.3_5'Flank|NBLA00301_uc010iri.3_5'Flank|NBLA00301_uc010irj.3_5'Flank|NBLA00301_uc010irk.3_5'Flank|NBLA00301_uc003itl.4_5'Flank|NBLA00301_uc010irl.3_5'Flank|NBLA00301_uc010irn.3_5'Flank|NBLA00301_uc010irm.3_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003ith.1_Missense_Mutation_p.R142C			P61296	HAND2_HUMAN	Homo sapiens heart and neural crest derivatives expressed 2 (HAND2), mRNA.	0					adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GTGGCCAGGCGCAGGGTCTTG	0.612000														253			14		0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220240718	220240718	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220240718T>C	uc001hma.3	-	5	572	c.400A>G	c.(400-402)Aca>Gca	p.T134A	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Missense_Mutation_p.T79A|BPNT1_uc010puh.2_Missense_Mutation_p.T98A	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	134					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		ATAAGAACTGTTACATTGTCA	0.308000														53			8		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140255355	140255355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140255355G>A	uc003lic.2	+	0	425	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	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.A100T	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	115	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGGAGCGCGGAGTGCAG	0.567000														577			26		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9783725	9783725	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9783725T>A	uc003bse.3	+	5	2270	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	BRPF1_uc003bsf.3_Missense_Mutation_p.I624N|BRPF1_uc003bsg.3_Missense_Mutation_p.I624N|BRPF1_uc011ati.2_Missense_Mutation_p.I624N	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	624	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding	p.Q623*(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTTCAGCAGATTGCCATGGAG	0.542000														82			18		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110738297	110738297	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110738297G>A	uc009wfq.3	+	9	2043	c.1582G>A	c.(1582-1584)Gcc>Acc	p.A528T		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	528					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity	p.S527S(1)		breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGACTACTCGGCCACCCTGCC	0.532000														137			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141526881	141526881	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141526881C>T	uc002tvj.1	-	34	6631	c.5659G>A	c.(5659-5661)Gaa>Aaa	p.E1887K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1887					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CTGATTCCTTCATGAACAGAG	0.403000										TSP Lung(27;0.18)				58			8		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918657	51918657	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51918657C>T	uc002pwo.3	-	6	1330	c.1108G>A	c.(1108-1110)Gta>Ata	p.V370I	SIGLEC10_uc002pwp.3_Missense_Mutation_p.V312I|SIGLEC10_uc021uyl.1_Missense_Mutation_p.V287I|SIGLEC10_uc002pwq.3_Missense_Mutation_p.V312I|SIGLEC10_uc010ycz.2_Missense_Mutation_p.V322I|SIGLEC10_uc002pws.2_Missense_Mutation_p.V222I|SIGLEC10_uc002pwr.3_Missense_Mutation_p.V370I|SIGLEC10_uc010ycy.2_Missense_Mutation_p.V280I|SIGLEC10_uc010eow.3_Missense_Mutation_p.V182I|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	370	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.V370L(2)|p.V312L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCCTCCAGTACTGGGAGAGAC	0.632000														153			26		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16689992	16689992	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16689992G>A	uc003jft.4	-	27	4305	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MYO10_uc011cnc.2_Silent_p.I158I|MYO10_uc011cnd.2_Silent_p.I636I|MYO10_uc011cne.2_Silent_p.I636I|MYO10_uc010itx.3_Silent_p.I902I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1279	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TAATGATGTCGATCCCATTCT	0.463000														59			12		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73768505	73768505	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73768505G>T	uc001ouu.2	-	24	5263	c.5036C>A	c.(5035-5037)aCc>aAc	p.T1679N	C2CD3_uc001out.3_Non-coding_Transcript	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1679	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AACCACTTGGGTGTATACAGG	0.443000														135			28		1.04121e-07	1.12981e-07	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51263178	51263178	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51263178C>A	uc011bds.2	+	14	1374	c.1351C>A	c.(1351-1353)Ctt>Att	p.L451I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	451	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CATGTATGTGCTTTATGCAGA	0.433000														111			30		7.26314e-15	8.55724e-15	1	1	0
UBN2	254048	broad.mit.edu	37	7	138936723	138936723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936723C>T	uc011kqr.2	+	2	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	195								p.E194D(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCGTAAACACCGGAAGGATCG	0.373000														114			11		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18245404	18245404	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18245404G>A	uc002nhz.4	+	14	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	500	Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCATCACCTCGCTTGGCCACA	0.627000														35			9		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591135	60591135	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591135C>A	uc001xer.4	+	7	2066	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	C14orf135_uc001xeq.2_Missense_Mutation_p.S515Y|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	749						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		ATAATTGATTCTCATGAAAAC	0.368000														62			10		0.000442599	0.000455268	1	1	0
TXN	7295	broad.mit.edu	37	9	113006460	113006460	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113006460C>A	uc004bep.2	-	4	500	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	TXN_uc004beq.2_Missense_Mutation_p.A79S	NM_003329	NP_003320	P10599	THIO_HUMAN	Homo sapiens thioredoxin (TXN), transcript variant 1, mRNA.	99	Thioredoxin.				cell proliferation|cell-cell signaling|cellular component movement|electron transport chain|glycerol ether metabolic process|nucleobase, nucleoside and nucleotide interconversion|positive regulation of DNA binding|regulation of protein import into nucleus, translocation|response to radiation|signal transduction|transcription, DNA-dependent|transport	cytosol|extracellular region|nucleoplasm	electron carrier activity|protein binding|protein disulfide oxidoreductase activity			kidney(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(323;7.36e-07)		TTAATGGTGGCTTCAAGCTTT	0.289000														25			8		3.09899e-07	3.33423e-07	1	1	0
DNAJB8	165721	broad.mit.edu	37	3	128181722	128181722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128181722G>A	uc003ekk.1	-	2	2028	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R123C	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	123					protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		CGGCCACCACGGTCACTATTG	0.582000														163			25		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106494250	106494250	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106494250C>A	uc021ser.1	-	2337		c.41402G>T								Parts of antibodies, mostly variable regions.																		CAGAGATGGGCTGTAGCGCTT	0.537000														130			33		1.62565e-12	1.87665e-12	1	1	0
RBM11	54033	broad.mit.edu	37	21	15592002	15592002	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15592002G>T	uc002yjo.4	+	1	257	c.215G>T	c.(214-216)gGa>gTa	p.G72V	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	72	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTGCTGAATGGAATTCGTTTA	0.393000														32			7		0.0293803	0.0295844	1	1	0
NCAPD2	9918	broad.mit.edu	37	12	6623541	6623541	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6623541G>A	uc001qoo.2	+	6	744	c.698G>A	c.(697-699)cGt>cAt	p.R233H	NCAPD2_uc009zen.1_Missense_Mutation_p.R105H|NCAPD2_uc010sfd.1_Missense_Mutation_p.R188H	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	233	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCCTTGACCCGTTATAACCAT	0.488000														302			30		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63281286	63281286	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63281286C>T	uc021vim.1	+	3	478	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	OTX1_uc002scd.3_Missense_Mutation_p.R68W|OTX1_uc010ypt.2_Missense_Mutation_p.R2W	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	68						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CATCTTCATGCGGGAGGAGGT	0.662000														211			52		0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50884924	50884924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50884924C>T	uc010ona.2	-	1	1138	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	DMRTA2_uc010onb.2_Missense_Mutation_p.E348K	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	348	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						AGCACCTGCTCGATGGCCTGC	0.716000														60			8		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100930822	100930822	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930822C>A	uc001tht.2	+	5	986	c.958C>A	c.(958-960)Cca>Aca	p.P320T	NR1H4_uc001thq.2_Missense_Mutation_p.P310T|NR1H4_uc001thp.2_Missense_Mutation_p.P306T|NR1H4_uc001thr.2_Missense_Mutation_p.P310T|NR1H4_uc010svk.2_Missense_Mutation_p.P259T|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.P316T	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	320	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AAAAAAGCTACCAGGTATTTT	0.284000														120			25		4.72057e-08	5.14176e-08	1	1	0
SCUBE1	80274	broad.mit.edu	37	22	43687117	43687117	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43687117T>G	uc003bdt.2	-	3	546	c.419A>C	c.(418-420)gAg>gCg	p.E140A	SCUBE1_uc003bdu.2_Missense_Mutation_p.E140A	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	140	EGF-like 3; calcium-binding (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCACTGACACTCGTAGCTGCC	0.547000														64			18		0	0	1	0	0
SFT2D2	375035	broad.mit.edu	37	1	168205957	168205957	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168205957A>G	uc001gfi.4	+	5	425	c.362A>G	c.(361-363)aAc>aGc	p.N121S	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	121					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CAGTGGCATAACAAGGGACTT	0.368000														282			15		0	0	1	0	0
TTC7B	145567	broad.mit.edu	37	14	91044542	91044542	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91044542C>A	uc001xyp.3	-	18	2340	c.2218G>T	c.(2218-2220)Gct>Tct	p.A740S	TTC7B_uc001xyo.3_Missense_Mutation_p.A184S|TTC7B_uc010ats.3_Non-coding_Transcript	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	Homo sapiens tetratricopeptide repeat domain 7B (TTC7B), mRNA.	740							binding			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				CGGAGCTCAGCAATCTGGCCG	0.602000														46			21		0.00121646	0.00124375	1	1	0
MACF1	23499	broad.mit.edu	37	1	39785375	39785375	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39785375G>A	uc021olt.1	+	29	4052	c.4000G>A	c.(4000-4002)Gat>Aat	p.D1334N	MACF1_uc021ols.1_Missense_Mutation_p.D1334N|MACF1_uc001cdc.2_Missense_Mutation_p.D1334N|MACF1_uc001cda.1_Missense_Mutation_p.D1242N|MACF1_uc009vvq.1_Missense_Mutation_p.D391N|MACF1_uc001cdb.1_Missense_Mutation_p.D421N	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1334					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAAAACTGGATCAATGTCA	0.368000														55			5		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2818703	2818703	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2818703G>A	uc022aqr.1	-	61	10052	c.9662C>T	c.(9661-9663)aCg>aTg	p.T3221M	CSMD1_uc011kwj.2_Missense_Mutation_p.T2551M|CSMD1_uc010lrg.3_Missense_Mutation_p.T1113M	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3222	Sushi 27.					integral to membrane		p.T2950K(1)|p.T3221K(1)		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)		AAAGTGTGGCGTACCAGGGTC	0.348000														42			11		0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57987053	57987053	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57987053C>A	uc002qot.3	-	2	435	c.174G>T	c.(172-174)gaG>gaT	p.E58D	ZNF772_uc010ygy.2_Missense_Mutation_p.E58D|ZNF772_uc010ygz.2_Intron|ZNF772_uc010yha.2_Missense_Mutation_p.E45D|ZNF772_uc002qou.3_Intron	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	Homo sapiens zinc finger protein 772 (ZNF772), transcript variant 1, mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GTGCAAAGTTCTCCAGCATCA	0.552000														221			33		4.74835e-14	5.56603e-14	1	1	0
PIK3R1	5295	broad.mit.edu	37	5	67575507	67575507	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:67575507C>T	uc003jva.3	+	4	1160	c.580C>T	c.(580-582)Cca>Tca	p.P194S		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	194	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CCTGGACTTACCAAATCCTGT	0.413000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				129			17		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653036	1653036	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1653036G>A	uc002qxa.3	-	16	2580	c.2516C>T	c.(2515-2517)gCa>gTa	p.A839V		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	839					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GGAGAAGCGTGCCTGGCTCAG	0.652000														77			31		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666569	117666569	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666569T>C	uc004bji.2	-	3	639	c.347A>G	c.(346-348)aAc>aGc	p.N116S	TNFSF8_uc022bmi.1_Missense_Mutation_p.N116S	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	116					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GCCATCTTTGTTCCAAGACAA	0.383000														123			38		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10874603	10874603	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874603C>A	uc003mzn.4	-	4	1218	c.1146G>T	c.(1144-1146)gtG>gtT	p.V382V	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	382			V -> M (does not affect expression level, transactivational capacity and DNA binding ability).		cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGGTGGTGATCACGGTTTGTA	0.557000														252			46		4.18559e-23	5.1768e-23	1	1	0
HSPBAP1	79663	broad.mit.edu	37	3	122474183	122474183	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122474183A>C	uc003efu.2	-	4	804	c.665T>G	c.(664-666)gTt>gGt	p.V222G	HSPBAP1_uc003efv.2_3'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	222	JmjC.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		AGGATTGACAACATTGATTTT	0.393000														79			6		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232195	25232195	+	Silent	SNP	C	T	T	rs114104872	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232195C>T	uc001rgh.3	+	5	1136	c.42C>T	c.(40-42)cgC>cgT	p.R14R	LRMP_uc001rgg.2_Non-coding_Transcript|LRMP_uc010sja.2_Silent_p.R14R|LRMP_uc010sjc.2_Silent_p.R14R|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_5'UTR|LRMP_uc010sjd.2_5'UTR	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	70					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		p.E13E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGTTGAACGCGTGTGTCCTG	0.373000														216			38		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55080452	55080452	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55080452C>T	uc001cxn.3	-	3	628	c.496G>A	c.(496-498)Gtc>Atc	p.V166I	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	166						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GGCCGCCGGACTTTGCCTTCC	0.557000														72			25		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40980807	40980807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40980807G>A	uc002xkg.3	-	9	1863	c.1679C>T	c.(1678-1680)aCc>aTc	p.T560I	PTPRT_uc010ggj.3_Missense_Mutation_p.T560I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	560	Fibronectin type-III 3.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAATAGGTGGTCCCTGGGTA	0.557000														144			29		0	0	1	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929186	40929186	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40929186C>T	uc002ont.4	-	1	427	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	90					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGCTAGGCACAGGTGGCAGG	0.672000														59			10		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152060019	152060019	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152060019G>T	uc001ezo.1	-	3	204	c.139_splice	c.e3-1	p.P47_splice		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	47							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGGACACAGGGCTGCATGAAA	0.373000														64			13		9.05144e-12	1.03561e-11	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91780320	91780320	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91780320G>A	uc010aty.3	-	14	1994	c.1840C>T	c.(1840-1842)Cgg>Tgg	p.R614W		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	614					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCAGCTGCCGCTTCTCAAAC	0.612000														74			23		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880058	37880058	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37880058T>G	uc010efk.1	+	4	1218	c.1107T>G	c.(1105-1107)cgT>cgG	p.R369R	ZNF527_uc002ogf.3_Silent_p.R337R|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTTAGCCGTTATGCCTTCC	0.438000														87			21		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32537345	32537345	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32537345C>T	uc002yow.1	-	16	3397	c.2925G>A	c.(2923-2925)gaG>gaA	p.E975E	TIAM1_uc011adk.1_Silent_p.E975E|TIAM1_uc011adl.1_Silent_p.E915E	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	975					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGGAGCGGTCTCAGCACTGC	0.512000														92			21		0	0	1	0	0
PLA2G4C	8605	broad.mit.edu	37	19	48598787	48598787	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48598787C>T	uc010xzd.2	-	6	1010	c.673G>A	c.(673-675)Gga>Aga	p.G225R	PLA2G4C_uc002phw.3_Missense_Mutation_p.G150R|PLA2G4C_uc010elr.3_Missense_Mutation_p.G215R|PLA2G4C_uc002phx.3_Missense_Mutation_p.G215R	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	215	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AATTTGCTTCCGAAGTGGGTT	0.542000														264			63		0	0	1	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57873102	57873102	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57873102G>A	uc001sod.3	-	4	494	c.301C>T	c.(301-303)Ctc>Ttc	p.L101F	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.L30F|ARHGAP9_uc001soc.3_Missense_Mutation_p.L30F|ARHGAP9_uc001soe.1_Missense_Mutation_p.L109F|ARHGAP9_uc010sro.1_Missense_Mutation_p.L30F	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	30					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAGGCATAGAGGGCACAGAGC	0.592000														191			15		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578667	67578667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578667C>T	uc010vjp.2	+	15	3049	c.2863C>T	c.(2863-2865)Cga>Tga	p.R955*	FAM65A_uc002eth.3_Nonsense_Mutation_p.R935*|FAM65A_uc010cej.3_Nonsense_Mutation_p.R939*|FAM65A_uc010vjq.2_Nonsense_Mutation_p.R949*|FAM65A_uc002etk.3_Nonsense_Mutation_p.R933*	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	939						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCGGGAAGCCCGAGTACTGGA	0.652000														240			61		0	0	1	0	0
HEXDC	284004	broad.mit.edu	37	17	80400400	80400400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80400400C>T	uc002kev.4	+	11	2106	c.1690C>T	c.(1690-1692)Cct>Tct	p.P564S	HEXDC_uc002kew.3_3'UTR|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	478					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			TCCTGAGGGCCCTGGGCAGCC	0.597000														268			41		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81666401	81666401	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81666401T>C	uc021ssk.1	-	0	18	c.18A>G	c.(16-18)gcA>gcG	p.A6A	TMC3_uc021ssj.1_Silent_p.A6A|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Silent_p.A6A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	6						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGCGCTGGGATGCCTTCGAGG	0.547000														35			6		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273951	14273951	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14273951T>G	uc010xnn.2	-	5	973	c.677A>C	c.(676-678)aAc>aCc	p.N226T	LPHN1_uc010xno.2_Missense_Mutation_p.N221T|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	226	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGCTCCTTGTTGTAGAAGAC	0.612000														158			39		0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27480182	27480182	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27480182C>T	uc002rjk.3	-	4	803	c.617G>A	c.(616-618)aGc>aAc	p.S206N	SLC30A3_uc002rjj.3_Missense_Mutation_p.A52T|SLC30A3_uc010ylh.2_Missense_Mutation_p.S201N	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	206					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGACCCGTGGCTGTGGGGGGG	0.662000														84			11		0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27664444	27664444	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27664444C>T	uc002rko.3	+	17	2290	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	NRBP1_uc002rkp.3_Silent_p.I486I|NRBP1_uc002rkr.3_Silent_p.I277I|KRTCAP3_uc002rks.3_5'Flank|KRTCAP3_uc010ylr.2_5'Flank|KRTCAP3_uc021vfd.1_5'Flank|KRTCAP3_uc002rkt.3_5'Flank	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	486					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATGAGAATATCCCCGAGTTGG	0.572000														241			77		0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18149700	18149700	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18149700C>T	uc002gsr.1	-	23	3179	c.3128G>A	c.(3127-3129)gGc>gAc	p.G1043D	FLII_uc002gsq.1_Missense_Mutation_p.G914D|FLII_uc010vxn.1_Missense_Mutation_p.G1012D|FLII_uc010vxo.1_Missense_Mutation_p.G988D	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	1043					multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CTTCCTCTTGCCCCGGTGGAT	0.637000														325			75		0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88272489	88272489	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88272489T>C	uc003pme.3	-	3	288	c.228A>G	c.(226-228)acA>acG	p.T76T	RARS2_uc003pmc.3_5'UTR|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	76					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0456)		CACTCACCACTGTATCACATC	0.338000														66			15		0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465371	51465371	+	Missense_Mutation	SNP	G	A	A	rs77023418	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465371G>A	uc001jio.3	-	6	1211	c.1085C>T	c.(1084-1086)aCc>aTc	p.T362I	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	362	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTGGGGATGGTGGTGCTGGA	0.522000														324			78		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37584042	37584042	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37584042A>G	uc002hrv.4	-	10	862	c.650_splice	c.e10-1	p.G217_splice	MED1_uc010wee.2_Splice_Site_p.G45_splice|MED1_uc002hru.2_Splice_Site_p.G217_splice	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	217	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCATTAAATGACCTATAAAAA	0.303000										HNSCC(31;0.082)				24			5		0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799558	99799558	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99799558G>T	uc010msi.3	-	3	579	c.372C>A	c.(370-372)ggC>ggA	p.G124G	CTSL2_uc004awt.3_Silent_p.G124G|CTSL2_uc004awu.3_Silent_p.G69G|CTSL2_uc010msj.2_Silent_p.G69G|CTSL2_uc010msk.3_Silent_p.G69G	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	124						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				GCGTCACGTAGCCTTTCTTTC	0.478000														67			4		2.56e-06	2.71868e-06	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629925	9629925	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9629925C>A	uc003jem.1	-	0	539	c.220G>T	c.(220-222)Gaa>Taa	p.E74*		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	74					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.I73M(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						ATGATGAATTCTATGAAGAAG	0.388000														82			17		3.52763e-06	3.73571e-06	1	1	0
DSC2	1824	broad.mit.edu	37	18	28669454	28669454	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28669454C>A	uc002kwl.4	-	4	1032	c.578G>T	c.(577-579)gGa>gTa	p.G193V	DSC2_uc002kwk.4_Missense_Mutation_p.G193V	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	193	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATACAAGTTTCCAGTGTCTCT	0.403000														76			18		6.49762e-13	7.53005e-13	1	1	0
HOXA11	3207	broad.mit.edu	37	7	27222562	27222562	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27222562G>A	uc003syx.3	-	1	867	c.795C>T	c.(793-795)taC>taT	p.Y265Y	HOXA9_uc022aar.1_5'Flank|HOXA10_uc003syw.4_5'Flank|HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	265					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTTTGTTAATGTAGACGCTGA	0.493000			T	NUP98	CML									202			35		0	0	1	0	0
IL28B	282617	broad.mit.edu	37	19	39734508	39734508	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39734508G>A	uc010xut.2	-	3	450	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	IL28B_uc010xuu.2_Missense_Mutation_p.R150C	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	150					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGTGGAGGCGGCCCCGGGTC	0.687000														226			42		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256221	52256221	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256221C>T	uc003ddb.3	-	4	2612	c.2402G>A	c.(2401-2403)cGg>cAg	p.R801Q	TLR9_uc003dda.2_Missense_Mutation_p.R704Q	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	704					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ATCCAGCCTCCGGAGCCGGGT	0.627000														199			18		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701060	17701060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17701060C>T	uc002grm.3	+	2	5267	c.4798C>T	c.(4798-4800)Cgg>Tgg	p.R1600W	RAI1_uc002grn.1_Missense_Mutation_p.R1600W	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1600						cytoplasm|nucleus	zinc ion binding	p.R1600L(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		ACCCTTCGTGCGGGTGGAGAA	0.617000														339			70		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256573	240256573	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256573A>C	uc010pye.2	+	0	1389	c.1164A>C	c.(1162-1164)ggA>ggC	p.G388G	FMN2_uc010pyd.2_Silent_p.G388G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	388					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGGCGCAAGGACCTGACGCCC	0.726000														86			16		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56342199	56342199	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56342199C>T	uc003pcy.4	-	71	13858	c.13750G>A	c.(13750-13752)Gac>Aac	p.D4584N		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6996					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGATGGAGTCGGGGTGGCAG	0.458000														123			23		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30012008	30012008	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30012008T>C	uc001zcr.3	-	19	3451	c.2976A>G	c.(2974-2976)tcA>tcG	p.S992S	TJP1_uc010azl.3_Silent_p.S980S|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	992					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGACGACAATGATGGTTCTT	0.463000														193			36		0	0	1	0	0
ARSK	153642	broad.mit.edu	37	5	94901721	94901721	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94901721A>G	uc003kld.3	+	1	304	c.146A>G	c.(145-147)cAt>cGt	p.H49R	ARSK_uc010jbg.3_5'UTR|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	49						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TTAACATTTCATCCAGGAAGT	0.323000														33			11		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69197819	69197819	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69197819A>G	uc003hdx.3	-	7	1475	c.1122_splice	c.e7+1	p.K374_splice	YTHDC1_uc003hdy.3_Splice_Site_p.K356_splice	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	374	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TGATGCTAATACCTTCGCTTT	0.313000														51			11		0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14267880	14267880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14267880C>T	uc010xnn.2	-	15	3134	c.2838G>A	c.(2836-2838)gtG>gtA	p.V946V	LPHN1_uc010xno.2_Silent_p.V941V|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	946					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTAGAGGTGCACGCCCTCCA	0.612000														91			21		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25046192	25046192	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25046192T>C	uc010ykm.2	-	16	2971	c.2772A>G	c.(2770-2772)ggA>ggG	p.G924G	ADCY3_uc002rfr.4_Silent_p.G510G|ADCY3_uc002rfs.4_Silent_p.G923G	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	923					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAAACATGACTCCAATCTCAT	0.468000														103			11		0	0	1	0	0
NDUFA7	4701	broad.mit.edu	37	19	8381461	8381461	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8381461C>T	uc002mjm.2	-	2	208	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_005001	NP_004992	O95182	NDUA7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa (NDUFA7), nuclear gene encoding mitochondrial protein, mRNA.	57					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	GCGGCCATCGCGAGTGCAATA	0.567000														184			41		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45886509	45886509	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45886509G>T	uc002ilx.1	-	19	2306	c.2103C>A	c.(2101-2103)ctC>ctA	p.L701L	OSBPL7_uc002ilw.1_Silent_p.L263L	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	701					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						ACTTCCCAAAGAGTCGGTGGA	0.637000														152			37		6.03168e-27	7.55028e-27	1	1	0
C3	718	broad.mit.edu	37	19	6684598	6684598	+	Missense_Mutation	SNP	C	A	A	rs74722736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684598C>A	uc002mfm.3	-	31	4155	c.4093G>T	c.(4093-4095)Gtc>Ttc	p.V1365F		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1365					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TTTATGGTGACCTTGAGGTCG	0.478000														173			33		6.00712e-18	7.23423e-18	1	1	0
PGBD5	79605	broad.mit.edu	37	1	230472895	230472895	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230472895C>A	uc010pwb.2	-	3	851	c.827G>T	c.(826-828)aGc>aTc	p.S276I		NM_024554	NP_078830	Q8N414	PGBD5_HUMAN	Homo sapiens piggyBac transposable element derived 5 (PGBD5), mRNA.	276						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GCTGGTGATGCTGGGCCCCGT	0.587000														163			51		1.83081e-24	2.27564e-24	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103086499	103086499	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103086499A>T	uc001phn.1	+	54	8888	c.8744A>T	c.(8743-8745)aAc>aTc	p.N2915I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.N2915I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	2915	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATGAACTGAACAGAAAAGCT	0.353000														30			7		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342835	47342835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47342835G>A	uc003tnw.3	-	21	3528	c.3170C>T	c.(3169-3171)gCg>gTg	p.A1057V	TNS3_uc022acn.1_Missense_Mutation_p.A614V	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1057						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGCCCCTGTCGCTGTCAGCGG	0.667000														86			6		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60028352	60028352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60028352C>T	uc002izo.3	-	27	6202	c.6125G>A	c.(6124-6126)aGt>aAt	p.S2042N		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2042					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCGATCAGTACTCTGACCCTT	0.378000														75			10		0	0	1	0	0
YAP1	10413	broad.mit.edu	37	11	102033283	102033283	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102033283T>C	uc001pgt.3	+	2	1057	c.669T>C	c.(667-669)aaT>aaC	p.N223N	YAP1_uc001pgu.3_Silent_p.N223N|YAP1_uc001pgv.3_Silent_p.N223N|YAP1_uc021qpf.1_Silent_p.N223N|YAP1_uc010ruo.2_Silent_p.N45N|YAP1_uc001pgw.2_Silent_p.N45N	NM_001130145	NP_001181974	P46937	YAP1_HUMAN	Homo sapiens Yes-associated protein 1 (YAP1), transcript variant 1, mRNA.	223					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)		TGCAGCAGAATATGATGAACT	0.478000														253			61		0	0	1	0	0
GRAP2	9402	broad.mit.edu	37	22	40367030	40367030	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40367030G>A	uc003ayh.2	+	7	1198	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GRAP2_uc011aom.2_Missense_Mutation_p.R286H|GRAP2_uc011aon.2_Missense_Mutation_p.R246H|GRAP2_uc010gya.2_Missense_Mutation_p.R312H|GRAP2_uc011aoo.2_Missense_Mutation_p.R240H|GRAP2_uc011aop.2_Missense_Mutation_p.R272H|GRAP2_uc011aoq.2_Missense_Mutation_p.R199H|GRAP2_uc003ayj.2_Missense_Mutation_p.R312H	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	312	SH3 2.				Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway|cell-cell signaling	cytosol	SH3/SH2 adaptor activity	p.R312S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TGGACCGGCCGCCTGCACAAC	0.597000														155			32		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187535439	187535439	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187535439G>T	uc003izf.3	-	11	9323	c.9135C>A	c.(9133-9135)atC>atA	p.I3045I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3045	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTAGCAGAGATCTGCATGA	0.378000										HNSCC(5;0.00058)				100			26		5.45024e-15	6.43213e-15	1	1	0
HOXC4	3221	broad.mit.edu	37	12	54448914	54448914	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54448914G>A	uc001seu.3	+	3	1400	c.720G>A	c.(718-720)ccG>ccA	p.P240P	HOXC4_uc001sex.3_Silent_p.P240P	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						CAGCTACCCCGGGTACTTCTG	0.617000														48			11		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776811	40776811	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776811G>T	uc003gvj.4	+	5	1164	c.669G>T	c.(667-669)aaG>aaT	p.K223N	NSUN7_uc003gvh.2_Missense_Mutation_p.K223N|NSUN7_uc003gvi.4_Missense_Mutation_p.K223N	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATAATTTGAAGAGAAGAGGCT	0.289000														82			8		0.000157383	0.000162836	1	1	0
KCNH2	3757	broad.mit.edu	37	7	150648842	150648842	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648842C>T	uc003wic.3	-	6	2040	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	KCNH2_uc003wib.3_Missense_Mutation_p.A207T|KCNH2_uc011kux.2_Missense_Mutation_p.A451T|KCNH2_uc003wid.3_Missense_Mutation_p.A207T|KCNH2_uc003wie.3_Missense_Mutation_p.A547T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	547					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity	p.A547T(2)		NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AGCACGGCCGCGCCGTACTCT	0.647000														104			25		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31815766	31815766	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31815766C>T	uc001ivs.4	+	8	3012	c.2949C>T	c.(2947-2949)taC>taT	p.Y983Y	ZEB1_uc001ivr.4_Silent_p.Y765Y|ZEB1_uc010qef.2_Silent_p.Y765Y|ZEB1_uc001ivu.4_Silent_p.Y984Y|ZEB1_uc010qeh.2_Silent_p.Y916Y|ZEB1_uc001ivv.4_Silent_p.Y963Y|ZEB1_uc001ivt.4_Silent_p.Y765Y|ZEB1_uc009xlo.2_Silent_p.Y966Y|ZEB1_uc009xlp.3_Silent_p.Y967Y	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	983					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATCATCGCTACTCCTACTGTA	0.498000														86			20		0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46580536	46580536	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46580536G>A	uc010hji.3	-	4	883	c.490_splice	c.e4+1	p.G164_splice	LRRC2_uc003cpu.4_Splice_Site_p.G164_splice	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	164										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TTGACATACCGATTTCTGCTG	0.453000														101			12		0	0	1	0	0
UHRF2	115426	broad.mit.edu	37	9	6477759	6477759	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6477759A>G	uc003zjy.3	+	5	1451	c.1111A>G	c.(1111-1113)Att>Gtt	p.I371V	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zka.1_Missense_Mutation_p.I148V	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	371					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GGCTTATCATATTTACTGTCT	0.393000														158			10		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51728523	51728523	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51728523G>A	uc002pwa.2	+	1	127	c.87G>A	c.(85-87)gtG>gtA	p.V29V	CD33_uc010eos.1_Silent_p.V29V|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	29	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	AGGAGTCAGTGACGGTACAGG	0.587000														138			28		0	0	1	0	0
GTPBP6	8225	broad.mit.edu	37	X	224168	224168	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:224168G>A	uc004cpe.1	-	4	600	c.599C>T	c.(598-600)aCg>aTg	p.T200M		NM_012227	NP_036359	O43824	GTPB6_HUMAN	Homo sapiens GTP binding protein 6 (putative) (GTPBP6), mRNA.	429						intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTTCGGTTCCGTGGGGCTGTA	0.687000														43			21		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46095003	46095003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46095003G>A	uc002pcm.3	-	1	1067	c.122C>T	c.(121-123)gCg>gTg	p.A41V	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.A41V	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	41						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCGGTAGGCCGCCCACAGAGC	0.647000														195			43		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151183461	151183461	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151183461G>T	uc003lun.3	+	11	1381	c.1210G>T	c.(1210-1212)Ggt>Tgt	p.G404C	G3BP1_uc003lum.3_Missense_Mutation_p.G404C|G3BP1_uc011dcu.2_Missense_Mutation_p.G222C|G3BP1_uc010jhz.3_Missense_Mutation_p.G222C|G3BP1_uc003luq.3_Missense_Mutation_p.G72C	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	404	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CATGTTCAGAGGTGAGGTCCG	0.502000														190			14		0.000422831	0.000435635	1	1	0
EPB41L1	2036	broad.mit.edu	37	20	34778662	34778662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34778662C>T	uc002xfb.3	+	10	1414	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	EPB41L1_uc002xeu.3_Missense_Mutation_p.P353S|EPB41L1_uc010zvo.1_Missense_Mutation_p.P415S|EPB41L1_uc002xev.3_Missense_Mutation_p.P415S|EPB41L1_uc002xew.3_Missense_Mutation_p.P318S|EPB41L1_uc002xex.3_Missense_Mutation_p.P384S|EPB41L1_uc002xey.3_Missense_Mutation_p.P342S|EPB41L1_uc002xez.3_Missense_Mutation_p.P353S	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	415					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CCGGCCTGCACCCTTCTTTGA	0.612000														71			11		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249045	20249045	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20249045C>A	uc010tku.2	+	0	564	c.564C>A	c.(562-564)gcC>gcA	p.A188A		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCCGGATTGCCTGTGCCAACA	0.458000														404			84		3.66986e-57	4.68747e-57	1	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145281532	145281532	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145281532G>T	uc001emn.4	+	3	832	c.462G>T	c.(460-462)caG>caT	p.Q154H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.Q154H|NOTCH2NL_uc001emo.2_Missense_Mutation_p.Q154H|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.	154	EGF-like 5; calcium-binding (Potential).				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			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						GACACTGCCAGCATGGTGGCA	0.567000														633			38		5.43694e-19	6.59212e-19	1	1	0
NPRL2	10641	broad.mit.edu	37	3	50385985	50385985	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50385985G>A	uc003daj.1	-	6	1096	c.693C>T	c.(691-693)ggC>ggT	p.G231G	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	231					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTCACAACGCCGTAGTACC	0.582000														111			31		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48696595	48696595	+	Missense_Mutation	SNP	C	T	T	rs61729234	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48696595C>T	uc003cuf.1	-	2	3683	c.3683G>A	c.(3682-3684)cGc>cAc	p.R1228H	CELSR3_uc003cul.3_Missense_Mutation_p.R1158H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1158	Cadherin 9.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCAACCAGGCGGACGTGCAC	0.532000														177			28		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137620520	137620520	+	Missense_Mutation	SNP	C	T	T	rs148548209		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137620520C>T	uc004cfe.3	+	5	1173	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612000														321			61		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14769800	14769800	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14769800T>C	uc003zlm.3	-	27	5942	c.5126A>G	c.(5125-5127)aAc>aGc	p.N1709S	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Missense_Mutation_p.N245S	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1709					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		CAAAGATGGGTTTATGATGTA	0.343000														36			4		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30640803	30640803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30640803G>A	uc003tbm.3	+	3	913	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	186					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity	p.P185H(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	GCTCACCCCTGAGCCAGTTTT	0.368000														102			22		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9117223	9117223	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9117223C>T	uc010rbv.1	+	0		c.1314C>T								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		TGCTGGAGGGCGAGGAGAGCT	0.592000														141			35		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151884809	151884809	+	Missense_Mutation	SNP	G	A	A	rs149660967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884809G>A	uc003wla.3	-	31	5003	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	MLL3_uc003wkz.3_Missense_Mutation_p.P656L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1595					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTGGCATCAGGATAAGAGGA	0.373000			N		medulloblastoma									103			18		0	0	1	0	0
ABCD3	5825	broad.mit.edu	37	1	94965137	94965137	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94965137C>T	uc010oto.2	+	20	1881	c.1779C>T	c.(1777-1779)gaC>gaT	p.D593D	ABCD3_uc001dqn.4_Silent_p.D569D|ABCD3_uc010otp.2_Silent_p.D496D|ABCD3_uc009wdr.3_Silent_p.D459D|ABCD3_uc001dqo.4_Silent_p.D257D	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	569	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		ATTGGATGGACGTACTCAGTG	0.438000														91			19		0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25831394	25831394	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25831394C>A	uc001uqf.4	-	8	1354	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H	MTMR6_uc001uqe.1_Missense_Mutation_p.Q345H	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	345	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GGGAACAAACCTGGGAAGTCC	0.398000														46			7		0.000442599	0.000455268	1	1	0
BNC2	54796	broad.mit.edu	37	9	16437072	16437072	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16437072T>C	uc003zml.3	-	5	1260	c.1120A>G	c.(1120-1122)Aca>Gca	p.T374A	BNC2_uc011lmw.2_Missense_Mutation_p.T279A|BNC2_uc003zmm.3_Missense_Mutation_p.T332A|BNC2_uc003zmq.1_Missense_Mutation_p.T388A|BNC2_uc003zmr.1_Missense_Mutation_p.T411A|BNC2_uc003zmp.1_Missense_Mutation_p.T402A|BNC2_uc010mij.1_Missense_Mutation_p.T296A|BNC2_uc011lmv.2_Missense_Mutation_p.T200A|BNC2_uc003zmo.1_Missense_Mutation_p.T296A|BNC2_uc003zmj.3_Missense_Mutation_p.T139A|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.T139A|BNC2_uc003zmn.1_Missense_Mutation_p.T139A	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding	p.T374I(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTATAAGGTGTGGGAGAAACT	0.473000														114			30		0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25246651	25246651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25246651G>A	uc003xeg.3	+	40	4313	c.4176G>A	c.(4174-4176)gaG>gaA	p.E1392E	DOCK5_uc003xek.3_Silent_p.E181E|DOCK5_uc003xei.3_Silent_p.E962E|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1392	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGGCGAGAGGACTTCAGCC	0.502000														93			26		0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330031	7330031	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7330031C>T	uc002ggw.3	+	2	794	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	241						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				ACCTGAGCTGCGCTGCATGCC	0.642000														83			28		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159642721	159642721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159642721G>T	uc010kjv.3	+	5	959	c.759G>T	c.(757-759)aaG>aaT	p.K253N	FNDC1_uc010kjw.1_Missense_Mutation_p.K201N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	253						extracellular region		p.K253N(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CAAAGCGAAAGATTTCAGGTA	0.473000														65			18		5.01169e-05	5.22235e-05	1	1	0
ZNF175	7728	broad.mit.edu	37	19	52090174	52090174	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52090174A>G	uc002pxb.3	+	4	968	c.590A>G	c.(589-591)aAa>aGa	p.K197R		NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	Homo sapiens zinc finger protein 175 (ZNF175), mRNA.	197					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CAACCTCAGAAATGTTGCTTA	0.418000														121			30		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903086	22903086	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903086G>A	uc001bfx.1	+	2	661	c.536G>A	c.(535-537)cGc>cAc	p.R179H	EPHA8_uc001bfw.3_Missense_Mutation_p.R179H	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	179			R -> C (in a gastric adenocarcinoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.R179C(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCAGCAAGCGCGGCTTCTAC	0.612000														132			31		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	309975	309975	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:309975C>A	uc002cgf.3	+	4	588	c.393C>A	c.(391-393)tcC>tcA	p.S131S	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Non-coding_Transcript|ITFG3_uc002cgg.2_Silent_p.S131S|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.S131S	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	131						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)				CAGGCTTTTCCTCTCCCTGCA	0.637000														92			24		1.55469e-16	1.85573e-16	1	1	0
L3MBTL2	83746	broad.mit.edu	37	22	41621043	41621043	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41621043C>A	uc003azo.3	+	10	1378	c.1324C>A	c.(1324-1326)Ctg>Atg	p.L442M	L3MBTL2_uc010gyi.1_Missense_Mutation_p.L351M|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	442					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCCCCTGAATCTGGGCAACAT	0.587000														166			36		1.414e-09	1.57262e-09	1	1	0
GCH1	2643	broad.mit.edu	37	14	55326402	55326402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55326402G>A	uc001xbh.1	-	2	667	c.506C>T	c.(505-507)gCg>gTg	p.A169V	GCH1_uc010aol.1_Missense_Mutation_p.A169V|GCH1_uc001xbi.1_Missense_Mutation_p.A169V|GCH1_uc001xbj.1_Missense_Mutation_p.A169V|GCH1_uc001xbk.1_Missense_Mutation_p.A169V|GCH1_uc001xbl.1_Missense_Mutation_p.A169V	NM_001024024	NP_001019195	P30793	GCH1_HUMAN	Homo sapiens GTP cyclohydrolase 1 (GCH1), transcript variant 2, mRNA.	169					GTP catabolic process|dopamine biosynthetic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process	cytoplasmic vesicle|cytosol|nuclear membrane|protein complex	GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding	p.A169E(2)		endometrium(2)|lung(7)|skin(2)	11						CACTTACCTCGCAAGTTTGCT	0.438000														54			13		0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35837053	35837053	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35837053T>A	uc002hnv.3	+	15	1667	c.1298T>A	c.(1297-1299)tTc>tAc	p.F433Y	TADA2A_uc002hnt.3_Missense_Mutation_p.F433Y|TADA2A_uc002hnw.3_Missense_Mutation_p.F332Y	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	433	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATCTATGATTTCCTCATCAGA	0.443000														192			47		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3879744	3879744	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3879744G>A	uc002kmf.3	-	3	852	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DLGAP1_uc010wyz.2_Missense_Mutation_p.R109W|DLGAP1_uc002kmk.2_Missense_Mutation_p.R109W|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	109					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCAGCTGCCGCTCGAACTGG	0.687000														266			48		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20134917	20134917	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20134917G>A	uc010nfo.2	-	0	198	c.81C>T	c.(79-81)atC>atT	p.I27I	MAP7D2_uc011mji.2_5'Flank|MAP7D2_uc004czr.2_Silent_p.I27I|MAP7D2_uc011mjj.2_Silent_p.I27I	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	27										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CCGGTTCTGCGATCTTCCCTG	0.716000														25			16		0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656841	656841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656841C>T	uc003mtg.3	-	0	124	c.104G>A	c.(103-105)cGc>cAc	p.R35H	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	35										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GCTGTCAGGGCGCACGCGGAG	0.667000														71			21		0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192225372	192225372	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192225372C>A	uc010fsg.2	+	7	833	c.578C>A	c.(577-579)tCt>tAt	p.S193Y	MYO1B_uc002usq.2_Missense_Mutation_p.S193Y|MYO1B_uc002usr.2_Missense_Mutation_p.S193Y|MYO1B_uc002uss.1_Missense_Mutation_p.S193Y	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	193	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTAGAGAAATCTCGGGTTGTT	0.388000														266			17		3.45872e-05	3.61362e-05	1	1	0
EFHB	151651	broad.mit.edu	37	3	19925921	19925921	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19925921G>A	uc003cbl.4	-	10	2316	c.2120C>T	c.(2119-2121)gCa>gTa	p.A707V	EFHB_uc003cbm.3_Missense_Mutation_p.A577V	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	707					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TCCTACAATTGCATTGATCTC	0.403000														40			8		0	0	1	0	0
NR2F1	7025	broad.mit.edu	37	5	92923924	92923924	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:92923924C>A	uc003kkj.3	+	1	2452	c.765C>A	c.(763-765)acC>acA	p.T255T	NR2F1_uc021ybj.1_Silent_p.T204T|NR2F1_uc021ybk.1_Silent_p.T230T	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	255					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TACGCCTCACCTGGAGCGAGC	0.687000														200			53		6.08268e-21	7.44607e-21	1	1	0
MMP16	4325	broad.mit.edu	37	8	89054008	89054008	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:89054008T>G	uc003yeb.4	-	9	1787	c.1505A>C	c.(1504-1506)tAc>tCc	p.Y502S		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	502	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CTTTCCTTTGTAGAAATACGT	0.388000														50			12		0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40958824	40958824	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40958824G>A	uc002ibm.4	+	4	945	c.713G>A	c.(712-714)aGt>aAt	p.S238N	CNTD1_uc010wha.2_Missense_Mutation_p.S155N	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	238										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCCACTCCCAGTCAGCTGCAA	0.517000														71			18		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136918578	136918578	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136918578C>T	uc004cew.3	-	1	210	c.22G>A	c.(22-24)Gcc>Acc	p.A8T	BRD3_uc004cex.2_Missense_Mutation_p.A8T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	8						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CCCGCGGGGGCGACTGTCGTG	0.682000			T	C15orf55	lethal midline carcinoma of young people									61			12		0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93678410	93678410	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93678410C>T	uc001ybm.4	+	3	614	c.378C>T	c.(376-378)taC>taT	p.Y126Y	UBR7_uc001ybn.4_Silent_p.Y50Y|UBR7_uc010auq.3_5'UTR	NM_175748	NP_786924	Q8N806	UBR7_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 7 (putative) (UBR7), transcript variant 2, mRNA.	126							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GCAATAAGTACAATGACAACT	0.328000														39			4		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122107335	122107335	+	Missense_Mutation	SNP	G	A	A	rs35779661	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122107335G>A	uc001uax.3	-	0	226	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	19								p.R19L(1)		breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		TGGGCCTTCCGGTCCCACCCC	0.592000														245			44		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995885	140995885	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995885G>T	uc004fbt.3	+	3	3019	c.2695G>T	c.(2695-2697)Gag>Tag	p.E899*	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Nonsense_Mutation_p.E558*	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	899							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTGATAGAGAGCGAGCC	0.478000										HNSCC(15;0.026)				332			71		1.17253e-29	1.47487e-29	1	1	0
TTYH1	57348	broad.mit.edu	37	19	54932493	54932493	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54932493T>C	uc002qfr.3	+	2	470	c.348T>C	c.(346-348)agT>agC	p.S116S	TTYH1_uc010yey.2_Silent_p.S165S|TTYH1_uc002qfq.3_Silent_p.S116S|TTYH1_uc002qft.3_Silent_p.S116S|TTYH1_uc002qfu.1_Silent_p.S31S	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	116					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGAGACCAGTGATGGGGTGT	0.637000														136			30		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123367851	123367851	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123367851G>A	uc003ego.3	-	25	4664	c.4382C>T	c.(4381-4383)tCt>tTt	p.S1461F	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Missense_Mutation_p.S261F|MYLK_uc011bjw.2_Missense_Mutation_p.S1461F|MYLK_uc003egp.3_Missense_Mutation_p.S1392F|MYLK_uc003egq.3_Missense_Mutation_p.S1461F|MYLK_uc003egr.3_Missense_Mutation_p.S1392F|MYLK_uc003egs.3_Missense_Mutation_p.S1285F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1461					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTAGAAGTCAGATACTTTTTG	0.512000														189			36		0	0	1	0	0
MTUS1	57509	broad.mit.edu	37	8	17611250	17611250	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17611250A>G	uc003wxv.3	-	1	2541	c.2067T>C	c.(2065-2067)acT>acC	p.T689T	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.T689T|MTUS1_uc010lsz.3_Silent_p.T689T	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	689						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATATTCAAAAGTCTCATTCA	0.328000														48			11		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47542776	47542776	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47542776G>A	uc002pfw.3	+	7	1112	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	NPAS1_uc002pfy.3_Missense_Mutation_p.V306I|NPAS1_uc010xyj.2_Missense_Mutation_p.V130I	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	306	PAS 2.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		ACACATGATCGTCTTCCGTCT	0.672000														125			36		0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177499	35177499	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35177499C>T	uc002xfl.1	+	3	460	c.366C>T	c.(364-366)caC>caT	p.H122H	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.H68H	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	122	EF-hand 2.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	p.D121N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ATGAGGACCACCTCCGGGAGC	0.592000														93			21		0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25748146	25748146	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25748146G>A	uc021ttg.1	+	3		c.1861G>A			TBC1D3P5_uc002gzg.3_Non-coding_Transcript					Homo sapiens TBC1 domain family, member 3 pseudogene 5 (TBC1D3P5), non-coding RNA.																		GGAACTGCCCGGTCAGAGCCC	0.627000														20			7		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879845	27879845	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879845T>C	uc011dkw.2	-	0	330	c.253A>G	c.(253-255)Ata>Gta	p.I85V		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GTGTTGCATATGTTTACCAGC	0.453000														81			16		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9781553	9781553	+	Silent	SNP	C	T	T	rs151235777	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9781553C>T	uc001aqe.4	+	13	2143	c.1935C>T	c.(1933-1935)taC>taT	p.Y645Y	PIK3CD_uc001aqb.4_Silent_p.Y621Y|PIK3CD_uc010oaf.2_Silent_p.Y620Y|PIK3CD_uc021ogb.1_Silent_p.Y405Y	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	621					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TGCTCAAGTACGAGTCCTACC	0.632000														87			17		0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911635	150911635	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150911635G>A	uc004fey.1	+	6	884	c.660G>A	c.(658-660)caG>caA	p.Q220Q		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	220					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.Q220*(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					ACACCCTGCAGTTCAAGCTGG	0.522000														105			35		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12836043	12836043	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12836043G>A	uc001aui.3	+	1	672	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	215										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCGTGGGAGCTGTCCATTC	0.517000														247			16		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657717	46657717	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46657717A>G	uc003bhh.3	-	0	1503	c.1503T>C	c.(1501-1503)ggT>ggC	p.G501G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	501	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATAGCATCTCACCACCTGAAG	0.373000														280			57		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681742	142681742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681742G>A	uc003evg.3	-	0	437	c.437C>T	c.(436-438)tCg>tTg	p.S146L	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	146						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CAGACGCAGCGACAGGCAGCT	0.637000														94			10		0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74114664	74114664	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:74114664C>T	uc003uau.3	+	4	831	c.461C>T	c.(460-462)cCg>cTg	p.P154L	GTF2I_uc003uat.3_Missense_Mutation_p.P154L|GTF2I_uc003uav.3_Missense_Mutation_p.P154L|GTF2I_uc003uaw.3_Missense_Mutation_p.P154L|GTF2I_uc003uay.3_Missense_Mutation_p.P154L|GTF2I_uc003uax.3_Missense_Mutation_p.P154L|BC070376_uc003uaz.3_Non-coding_Transcript	NM_032999	NP_127492	P78347	GTF2I_HUMAN	Homo sapiens general transcription factor IIi (GTF2I), transcript variant 1, mRNA.	154					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CAGGGGCTTCCGGAAGGTGTT	0.483000														239			69		0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956186	209956186	+	Missense_Mutation	SNP	G	A	A	rs150951869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956186G>A	uc001hhp.1	-	1	1037	c.794C>T	c.(793-795)cCg>cTg	p.P265L	C1orf74_uc021pio.1_Missense_Mutation_p.P265L	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	265										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGCCACAGCCGGCAGTGTGAC	0.468000														167			37		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55677365	55677365	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55677365G>T	uc002qjl.1	-	2	295	c.293C>A	c.(292-294)cCt>cAt	p.P98H	DNAAF3_uc002qji.1_Missense_Mutation_p.P30H|DNAAF3_uc002qjj.1_Missense_Mutation_p.P77H|DNAAF3_uc002qjk.1_5'UTR	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	30																	GTCCACAGGAGGACCTGGCAA	0.592000											OREG0025679	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			15		1.67942e-08	1.84125e-08	1	1	0
SBF2	81846	broad.mit.edu	37	11	9874236	9874236	+	Missense_Mutation	SNP	G	A	A	rs143887793		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9874236G>A	uc001mib.2	-	20	2735	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	SBF2_uc001mif.3_Missense_Mutation_p.P622L|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	866					myelination	cytoplasm|membrane	phosphatase activity|protein binding	p.P866P(1)		breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTGAATAGGCGGAAGTCTTCT	0.418000														157			31		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11312657	11312657	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11312657T>C	uc001ikk.2	+	6	807	c.647T>C	c.(646-648)tTt>tCt	p.F216S	CELF2_uc010qbi.2_5'UTR|CELF2_uc010qbj.1_Missense_Mutation_p.F209S|CELF2_uc001iki.4_Missense_Mutation_p.F209S|CELF2_uc001ikl.4_Missense_Mutation_p.F216S|CELF2_uc010qbk.1_Non-coding_Transcript|CELF2_uc010qbl.1_Missense_Mutation_p.F185S|CELF2_uc010qbm.1_5'UTR|CELF2_uc001iko.4_Missense_Mutation_p.F185S|CELF2_uc001ikp.4_Missense_Mutation_p.F185S|CELF2_uc010qbo.1_Missense_Mutation_p.F98S|CELF2_uc010qbp.1_5'UTR	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	209	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GTGGTGAAGTTTGCTGACACT	0.582000											OREG0020007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			26		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107048102	107048102	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107048102A>G	uc001tlt.3	+	3	455	c.315A>G	c.(313-315)caA>caG	p.Q105Q	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.Q96Q|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Silent_p.Q105Q	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	96					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ATGATACCCAACCTGTCAATG	0.488000														79			9		0	0	1	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807247	140807247	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140807247G>A	uc011daz.2	+	0	1395	c.1036G>A	c.(1036-1038)Gga>Aga	p.G346R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		CAACCTTCCCGGAGCCTCCAT	0.572000														27			8		0	0	1	0	0
G6PC2	57818	broad.mit.edu	37	2	169757900	169757900	+	Missense_Mutation	SNP	G	A	A	rs143670077		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169757900G>A	uc002uem.3	+	0	151	c.59G>A	c.(58-60)cGa>cAa	p.R20Q	G6PC2_uc002uen.3_Missense_Mutation_p.R20Q|G6PC2_uc010fpv.3_5'UTR	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	20					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						AAGGACTACCGAGCTTACTAC	0.358000														110			27		0	0	1	0	0
RBFA	79863	broad.mit.edu	37	18	77798535	77798535	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77798535C>T	uc002lns.3	+	3	559	c.409C>T	c.(409-411)Cga>Tga	p.R137*	RBFA_uc010drh.3_Nonsense_Mutation_p.R137*|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	137					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CTCAGCCTGCCGAGCGTACTG	0.542000														190			20		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76569448	76569448	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76569448C>T	uc002fex.1	+	16	2910	c.2771C>T	c.(2770-2772)aCg>aTg	p.T924M	CNTNAP4_uc002feu.1_Missense_Mutation_p.T920M|CNTNAP4_uc002fev.1_Missense_Mutation_p.T785M|CNTNAP4_uc010chb.1_Missense_Mutation_p.T848M	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	921	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TTAGGTGGAACGGCCACCAGA	0.478000														108			18		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122620104	122620104	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620104G>A	uc001ubq.3	+	10	2031	c.1923G>A	c.(1921-1923)ccG>ccA	p.P641P	MLXIP_uc001ubt.3_Silent_p.P248P	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CGAGCAGCCCGCCTGCCCCCG	0.677000														35			5		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12574913	12574913	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12574913C>T	uc002mtv.4	-	3	1984	c.1823G>A	c.(1822-1824)cGa>cAa	p.R608Q	ZNF709_uc002mtw.4_Missense_Mutation_p.R576Q|ZNF709_uc002mtx.4_Missense_Mutation_p.R608Q	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AGTGTGAGTTCGTTCATGGAT	0.433000														232			42		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1043455	1043455	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043455C>T	uc002lqw.4	+	8	1144	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W	ABCA7_uc010dsb.1_Missense_Mutation_p.R167W	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	305					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTTACCCGGAAGCTCAT	0.652000														358			14		0	0	1	0	0
CBWD5	220869	broad.mit.edu	37	9	70181987	70181987	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:70181987C>A	uc004afw.3	-	2		c.2125G>T						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TGTTTTAAAACTGTGAATCCT	0.373000														51			25		1.17739e-12	1.36172e-12	1	1	0
SAMD15	161394	broad.mit.edu	37	14	77857396	77857396	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77857396T>G	uc001xtq.1	+	2	1834	c.1834T>G	c.(1834-1836)Tta>Gta	p.L612V		NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	612										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGAAGAGCCATTATTCAAACG	0.383000														91			16		0	0	1	0	0
HECTD3	79654	broad.mit.edu	37	1	45470286	45470286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45470286C>A	uc009vxk.3	-	15	2226	c.2128G>T	c.(2128-2130)Gag>Tag	p.E710*	HECTD3_uc001cmx.4_Nonsense_Mutation_p.E59*|HECTD3_uc001cmy.4_Nonsense_Mutation_p.E320*|HECTD3_uc010olh.2_Nonsense_Mutation_p.E426*	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	710	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCTCTCCTCTAGCCGT	0.602000														196			13		5.50884e-06	5.8131e-06	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73809190	73809190	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73809190C>T	uc001ouu.2	-	15	3070	c.2843G>A	c.(2842-2844)cGa>cAa	p.R948Q		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	948						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TAAAAAGACTCGAAGACTCCC	0.468000														121			25		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117849189	117849189	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117849189A>C	uc004bjj.4	-	2	1233	c.821T>G	c.(820-822)tTt>tGt	p.F274C	TNC_uc010mvf.3_Missense_Mutation_p.F274C|TNC_uc022bmj.1_Missense_Mutation_p.F274C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	274	EGF-like 4.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ATCGCCTGCAAAGCCATCGTG	0.577000														190			32		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45455883	45455883	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455883C>A	uc001zus.1	+	32	4748	c.4402C>A	c.(4402-4404)Ctg>Atg	p.L1468M	DUOX1_uc001zut.1_Missense_Mutation_p.L1468M|DUOX1_uc010bee.1_Missense_Mutation_p.L848M	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1468					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GACCACTATGCTGGTATGTCA	0.567000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		165			33		8.16721e-17	9.7615e-17	1	1	0
TEP1	7011	broad.mit.edu	37	14	20841723	20841723	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841723C>T	uc001vxe.3	-	45	6664	c.6624G>A	c.(6622-6624)gaG>gaA	p.E2208E	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Silent_p.E1551E|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E2100E|TEP1_uc010tlh.1_Silent_p.E546E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2208					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCACCAGAAGCTCTGACCCAG	0.572000														101			7		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528924	149528924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528924C>T	uc010zbt.2	+	9	1715	c.1688C>T	c.(1687-1689)gCt>gTt	p.A563V		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	563					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GCATCTGTAGCTTTATTGAAC	0.368000														145			23		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704229	113704229	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704229C>T	uc011lwo.2	-	1	270	c.268G>A	c.(268-270)Gct>Act	p.A90T	LPAR1_uc004bfa.3_Missense_Mutation_p.A89T|LPAR1_uc011lwm.2_Missense_Mutation_p.A90T|LPAR1_uc004bfc.3_Missense_Mutation_p.A89T|LPAR1_uc011lwn.2_Missense_Mutation_p.A71T|LPAR1_uc004bfb.3_Missense_Mutation_p.A89T|LPAR1_uc010mub.3_Missense_Mutation_p.A89T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	89					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCCAGATTAGCCATTAGGTAA	0.453000														169			33		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145109470	145109470	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145109470C>T	uc003zar.3	-	18	2762	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K	OPLAH_uc003zas.1_Missense_Mutation_p.G168E	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	894							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCACCCTCCTCCTGGAAGACG	0.647000														42			16		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25771219	25771219	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25771219C>T	uc003nfe.3	+	5	804	c.685C>T	c.(685-687)Cct>Tct	p.P229S	SLC17A4_uc011djx.2_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.3_Missense_Mutation_p.P166S|SLC17A4_uc010jqa.3_5'Flank	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	229					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATAGGATGGCCTTACGTCTT	0.443000														221			14		0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139727113	139727113	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139727113G>A	uc003vvl.1	-	9	2465	c.1591C>T	c.(1591-1593)Cga>Tga	p.R531*	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	531	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTCTGTACTCGCTCAATCTTC	0.537000														109			18		0	0	1	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28366051	28366051	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366051G>T	uc011dlh.2	-	1	311	c.132C>A	c.(130-132)gtC>gtA	p.V44V	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						ACTGACGGAAGACCTCTCTGC	0.507000														26			10		0.000442599	0.000455268	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24749866	24749866	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24749866C>T	uc010kus.1	-	5	927	c.839G>A	c.(838-840)gGa>gAa	p.G280E	DFNA5_uc003sxa.1_Missense_Mutation_p.G280E|DFNA5_uc010kut.1_Missense_Mutation_p.G116E	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	280					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						ACTTAATGGTCCATCCTGGGA	0.512000														163			26		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103993	168103993	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103993G>T	uc002udx.3	+	8	6180	c.6091G>T	c.(6091-6093)Gat>Tat	p.D2031Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1856Y|XIRP2_uc010fpq.3_Missense_Mutation_p.D1809Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1856					actin cytoskeleton organization	cell junction	actin binding			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						GATTGTCATAGATCGTGAACA	0.388000														97			16		1.5739e-10	1.77479e-10	1	1	0
SMCHD1	23347	broad.mit.edu	37	18	2707808	2707808	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2707808C>T	uc002klm.4	+	16	2339	c.2150C>T	c.(2149-2151)gCg>gTg	p.A717V	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	717					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CTCATAGGTGCGTTAAGAATT	0.363000														19			3		0	0	1	0	0
FBXO15	201456	broad.mit.edu	37	18	71796836	71796836	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71796836C>A	uc002llf.2	-	4	669	c.589G>T	c.(589-591)Ggt>Tgt	p.G197C	FBXO15_uc002lle.2_Missense_Mutation_p.G121C	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	121										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		ATTGCCCAACCTAAACCAAAT	0.308000														45			4		0.00024832	0.000256435	1	1	0
MYH1	4619	broad.mit.edu	37	17	10409416	10409416	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10409416C>T	uc002gmo.3	-	18	2063	c.1969_splice	c.e18-1	p.E657_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	657	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCAAATTCTCCTGTGGAACC	0.363000														142			31		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688136	60688136	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688136C>T	uc002sae.1	-	3	2139	c.1911G>A	c.(1909-1911)aaG>aaA	p.K637K	BCL11A_uc002sab.3_Silent_p.K637K|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.K306K|BCL11A_uc010ypj.2_Silent_p.K603K|BCL11A_uc002sad.1_Silent_p.K485K|BCL11A_uc002saf.1_Silent_p.K603K	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	637					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			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)			CCTTCTCGAGCTTGATGCGCT	0.687000			T	IGH@	B-CLL									127			40		0	0	1	0	0
SCAF11	9169	broad.mit.edu	37	12	46321115	46321115	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46321115C>T	uc001rox.3	-	10	2656	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q	SCAF11_uc001row.3_Missense_Mutation_p.R475Q|SCAF11_uc001roy.1_Missense_Mutation_p.R864Q	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	790					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TCTAGATCTTCGAGTACGAGG	0.433000														150			26		0	0	1	0	0
TMA16	55319	broad.mit.edu	37	4	164434003	164434003	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164434003A>C	uc003iqq.4	+	2	427	c.146A>C	c.(145-147)aAc>aCc	p.N49T		NM_018352	NP_060822	Q96EY4	CD043_HUMAN	Homo sapiens chromosome 4 open reading frame 43 (C4orf43), mRNA.	49																	TTGCGTCTCAACCTTGTTGGT	0.333000														35			12		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170626923	170626923	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170626923G>T	uc003qxp.3	+	1	553	c.445G>T	c.(445-447)Ggc>Tgc	p.G149C	FAM120B_uc003qxo.1_Missense_Mutation_p.G149C|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	149					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AAAGACACTGGGCCAGGAAAC	0.458000														148			36		1.42033e-22	1.75151e-22	1	1	0
SLC24A5	283652	broad.mit.edu	37	15	48414088	48414088	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48414088G>A	uc001zwe.3	+	1	229	c.156G>A	c.(154-156)tcG>tcA	p.S52S	SLC24A5_uc001zwd.3_Silent_p.S52S|SLC24A5_uc010bel.3_Intron	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN	Homo sapiens solute carrier family 24, member 5 (SLC24A5), mRNA.	52					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.S52L(1)|p.S52*(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CTCCATCATCGGAGTTTCCCG	0.428000														132			36		0	0	1	0	0
MTHFD2	10797	broad.mit.edu	37	2	74435776	74435776	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74435776C>T	uc002skk.3	+	3	569	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MTHFD2_uc002skj.3_Nonsense_Mutation_p.R62*|MTHFD2_uc010yro.2_Nonsense_Mutation_p.R62*|MTHFD2_uc010yrp.2_5'UTR	NM_006636	NP_006627	P13995	MTDC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase (MTHFD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	164					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TAATGTAGGACGAATGTGTTT	0.418000														221			103		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360921	107360921	+	Missense_Mutation	SNP	C	T	T	rs76010537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107360921C>T	uc011lvp.2	-	0	774	c.774G>A	c.(772-774)atG>atA	p.M258I		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	258			M -> T (in dbSNP:rs1851724).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						GCTTCATGTACATGAGGAAGA	0.443000														98			30		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453619	82453619	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453619G>A	uc003uhx.2	-	18	14818	c.14529C>T	c.(14527-14529)agC>agT	p.S4843S	PCLO_uc003uhv.2_Silent_p.S4843S|PCLO_uc003uht.1_Silent_p.S285S|PCLO_uc003uhu.1_Silent_p.S264S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4705					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGACTGCTGGCTGCTCTGAC	0.423000														46			11		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625389	23625389	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23625389G>T	uc003swk.2	-	0	758	c.108C>A	c.(106-108)atC>atA	p.I36I						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		GCACTTGGTGGATGGGGTAGG	0.512000														96			25		2.44723e-14	2.87423e-14	1	1	0
ACSM2A	123876	broad.mit.edu	37	16	20476939	20476939	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20476939C>T	uc010bwe.3	+	3	517	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14V|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93V|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93V|ACSM2A_uc010vay.2_Missense_Mutation_p.A14V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	93					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCCAGCAGGCAGCCAACGTC	0.612000														159			9		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154528	74154528	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154528C>T	uc021ulp.1	-	2	801	c.483G>A	c.(481-483)gaG>gaA	p.E161E		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGCGGACCCCTCTGCCCCCT	0.697000														64			19		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122738	40122738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122738C>T	uc003guy.4	+	8	3345	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	N4BP2_uc010ifq.3_Missense_Mutation_p.P923S|N4BP2_uc010ifr.3_Missense_Mutation_p.P923S	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1003						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						AGAGCAAATGCCTAAGAGAGA	0.408000														89			10		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18069767	18069767	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18069767C>T	uc021trm.1	+	59	10099	c.9880C>T	c.(9880-9882)Cgg>Tgg	p.R3294W	MYO15A_uc021trl.1_Missense_Mutation_p.R3292W|MYO15A_uc010vxi.2_Missense_Mutation_p.R558W|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.R283W|MYO15A_uc002gsl.3_Missense_Mutation_p.R301W|MYO15A_uc010vxm.2_Intron|MYO15A_uc010cpv.3_Intron	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3294	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTCTGGTTCCGGCGTGTGCT	0.577000														214			41		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3430170	3430170	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3430170C>T	uc002fvr.2	-	11	1877	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Missense_Mutation_p.D503N|TRPV3_uc010vri.1_Missense_Mutation_p.D474N|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.D519N|TRPV3_uc010vrj.1_Missense_Mutation_p.D503N|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Missense_Mutation_p.D503N|TRPV3_uc002fvu.3_Missense_Mutation_p.D519N|TRPV3_uc010vrn.1_Missense_Mutation_p.D101N	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	519						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	AACCAGGCATCCGAGAGGATG	0.572000														30			6		0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010800	78010800	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:78010800G>A	uc022bzj.1	+	0	434	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	LPAR4_uc010nme.3_Missense_Mutation_p.R145Q	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	145						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.R145Q(2)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATCCTTTTCGATCTCGTACT	0.463000														114			33		0	0	1	0	0
WDHD1	11169	broad.mit.edu	37	14	55455901	55455901	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55455901G>T	uc001xbm.2	-	12	1461	c.1371C>A	c.(1369-1371)tgC>tgA	p.C457*	WDHD1_uc010aom.2_Intron|WDHD1_uc001xbn.2_Nonsense_Mutation_p.C334*	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	457						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATCATTATAGCAGCGAATAA	0.373000														55			11		3.86212e-05	4.026e-05	1	1	0
DNM1	1759	broad.mit.edu	37	9	131008740	131008740	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131008740T>C	uc022bob.1	+	15	1826	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	DNM1_uc022bny.1_Missense_Mutation_p.M580T|DNM1_uc022bnz.1_3'UTR|DNM1_uc022boa.1_3'UTR|DNM1_uc004bub.1_5'UTR|DNM1_uc004buc.1_Missense_Mutation_p.M47T|MIR199B_uc004bue.1_5'Flank|MIR3154_uc022boc.1_5'Flank	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	580	PH.				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AAGGGCTTTATGTCGAGCAAG	0.557000														105			22		0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27226239	27226239	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27226239A>G	uc010vcn.1	+	3	940	c.822A>G	c.(820-822)ccA>ccG	p.P274P	KDM8_uc002doh.2_Silent_p.P236P|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	236	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GAACTGTCCCAGTGGAAGTTG	0.478000														161			13		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45113169	45113169	+	Splice_Site	SNP	C	T	T	rs11552375		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45113169C>T	uc003tms.3	+	8	1049	c.978_splice	c.e8+1	p.T326_splice	CCM2_uc003tmn.3_Splice_Site|CCM2_uc003tmo.3_Splice_Site_p.T305_splice|CCM2_uc003tmp.3_Splice_Site_p.T247_splice|CCM2_uc003tmr.3_Splice_Site_p.T214_splice	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	305					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TACATGCTGACGGTAGGCCTC	0.657000														62			14		0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99347219	99347219	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99347219T>C	uc003ppf.1	-	5	1600	c.1242A>G	c.(1240-1242)ctA>ctG	p.L414L	FBXL4_uc003ppg.1_Silent_p.L414L|FBXL4_uc003pph.1_Silent_p.L16L|FBXL4_uc010kcp.3_Silent_p.L16L	NM_012160	NP_036292	Q9UKA2	FBXL4_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 4 (FBXL4), mRNA.	414					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		CTTGAGGTGGTAGCTTATCAC	0.383000														138			23		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105177986	105177986	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105177986C>T	uc001ypb.2	+	15	2582	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P	INF2_uc001ypc.2_Silent_p.P813P|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	813	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGAGCCACCCCGACCTCCTGC	0.647000														91			12		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27204926	27204926	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27204926G>A	uc011lno.2	+	12	2540	c.2098G>A	c.(2098-2100)Ggg>Agg	p.G700R	TEK_uc003zqi.4_Missense_Mutation_p.G743R|TEK_uc011lnp.2_Missense_Mutation_p.G596R|TEK_uc003zqj.1_Missense_Mutation_p.G677R	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	743	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACCTCGGAGGGGGGAAGAT	0.507000														285			26		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55501543	55501543	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55501543C>T	uc021vbq.1	+	8	2631	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	NLRP2_uc010yfp.2_Silent_p.C817C|NLRP2_uc002qij.3_Silent_p.C840C|NLRP2_uc010esp.3_Silent_p.C818C|NLRP2_uc010esn.3_Silent_p.C816C|NLRP2_uc010eso.3_Silent_p.C837C	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	840					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACCCCAAGTGCTTTCTGCAGA	0.512000														130			27		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167293928	167293928	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167293928G>T	uc003fev.1	-	3	568	c.264C>A	c.(262-264)ctC>ctA	p.L88L	WDR49_uc003feu.1_5'Flank|WDR49_uc011bpd.1_Silent_p.L141L|WDR49_uc003few.1_Silent_p.L429L	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	88										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATATCCCAGAGTCTCAAAA	0.388000														47			17		9.16793e-09	1.00855e-08	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73181645	73181645	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73181645G>T	uc003hgk.2	-	10	1566	c.1529C>A	c.(1528-1530)cCt>cAt	p.P510H		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	510	Disintegrin.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGATTATCAGGATGGCTACA	0.403000														77			12		4.93089e-13	5.72934e-13	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168102560	168102560	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102560A>C	uc002udx.3	+	8	4747	c.4658A>C	c.(4657-4659)aAa>aCa	p.K1553T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1378T|XIRP2_uc010fpq.3_Missense_Mutation_p.K1331T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1378					actin cytoskeleton organization	cell junction	actin binding			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						AAGAGCATTAAAGAAACCTTA	0.358000														87			18		0	0	1	0	0
UPF3B	65109	broad.mit.edu	37	X	118972012	118972012	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118972012G>T	uc004erz.2	-	9	1110	c.1010C>A	c.(1009-1011)cCt>cAt	p.P337H	UPF3B_uc004esa.2_Missense_Mutation_p.P324H	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	337	Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.P337T(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						CTCATCTTCAGGTCTGCATGA	0.473000														157			16		1.15088e-07	1.24477e-07	1	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32232319	32232319	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32232319C>G	uc002wzg.1	+	11	2219	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	CBFA2T2_uc010zug.1_Missense_Mutation_p.P335R|CBFA2T2_uc002wze.1_Missense_Mutation_p.P552R|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.P532R|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.P109R	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	561						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CCGCTGCTTCCTGTAGGCAGG	0.677000														210			63		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15497082	15497082	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15497082C>T	uc003nbj.3	+	6	1870	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	JARID2_uc011diu.1_Silent_p.A406A|JARID2_uc011div.2_Silent_p.A370A|JARID2_uc011diw.1_Silent_p.A504A	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	542					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CGGGCAAGGCCGAGAAGGGCG	0.647000														69			13		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96018655	96018655	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96018655T>C	uc001kjk.3	+	11	4287	c.3653T>C	c.(3652-3654)tTt>tCt	p.F1218S	PLCE1_uc010qnx.2_Missense_Mutation_p.F1202S|PLCE1_uc001kjm.3_Missense_Mutation_p.F910S	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1218					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTGTTGAATTTGTTGAGCTG	0.428000														148			27		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197091137	197091137	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197091137G>T	uc001gtu.3	-	15	4035	c.3778C>A	c.(3778-3780)Ctt>Att	p.L1260I	ASPM_uc001gtv.3_Missense_Mutation_p.L1260I|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1260					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGATCCAAAAGCCTTGCACAA	0.338000														46			4		0.000602214	0.000618135	1	1	0
TMEM170A	124491	broad.mit.edu	37	16	75498407	75498407	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75498407C>A	uc002fee.1	-	0	178	c.92G>T	c.(91-93)gGg>gTg	p.G31V	TMEM170A_uc002feb.3_5'Flank|TMEM170A_uc002fec.3_Missense_Mutation_p.G31V|TMEM170A_uc002fed.1_Non-coding_Transcript	NM_145254	NP_660297	Q8WVE7	T170A_HUMAN	Homo sapiens transmembrane protein 170A (TMEM170A), mRNA.	31						integral to membrane				endometrium(1)	1						GCACAGGGTCCCGTTGCCCAC	0.746000														63			18		2.35188e-11	2.67805e-11	1	1	0
TFG	10342	broad.mit.edu	37	3	100432536	100432536	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100432536G>A	uc003duf.3	+	1	192	c.7G>A	c.(7-9)Gga>Aga	p.G3R	TFG_uc003due.3_Missense_Mutation_p.G3R|TFG_uc003dug.3_Missense_Mutation_p.G3R|TFG_uc003dui.3_Missense_Mutation_p.G3R	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	3					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity	p.G3*(1)	TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCATGAACGGACAGTTGGA	0.353000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									89			26		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743339	51743339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743339G>A	uc010hlv.3	+	1	579	c.340G>A	c.(340-342)Gct>Act	p.A114T	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	114					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CAGCCGTGGTGCTGATGGCTC	0.597000														154			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179463744	179463744	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179463744C>T	uc021vsy.1	-	239	49214	c.48989G>A	c.(48988-48990)cGt>cAt	p.R16330H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10025H|TTN_uc021vta.1_Missense_Mutation_p.R9958H|TTN_uc021vtb.1_Missense_Mutation_p.R9833H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17257	Ig-like 100.						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)			CATGGAGTTACGAGTCACGCT	0.418000														95			11		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38679130	38679130	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38679130T>C	uc021rsi.1	+	0	536	c.536T>C	c.(535-537)cTg>cCg	p.L179P	SSTR1_uc001wul.1_Missense_Mutation_p.L179P	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	179					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	p.N178H(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GTAGTAAACCTGGGCGTGTGG	0.642000														164			32		0	0	1	0	0
WNK1	65125	broad.mit.edu	37	12	987393	987393	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:987393C>T	uc021qss.1	+	10	4121	c.3478C>T	c.(3478-3480)Cag>Tag	p.Q1160*	WNK1_uc001qio.4_Nonsense_Mutation_p.Q747*|WNK1_uc021qst.1_Nonsense_Mutation_p.Q1245*|WNK1_uc001qip.4_Nonsense_Mutation_p.Q746*|WNK1_uc001qir.4_Nonsense_Mutation_p.Q166*	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	905					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGAATACAGCAGACAGCCCC	0.438000														118			14		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328183	57328183	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328183C>T	uc002qnu.2	-	6	1978	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A514T|PEG3_uc002qnv.2_Missense_Mutation_p.A543T|PEG3_uc002qnw.2_Missense_Mutation_p.A419T|PEG3_uc002qnx.2_Missense_Mutation_p.A417T|PEG3_uc010etr.2_Missense_Mutation_p.A543T	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	543					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCATGAAGGCTTCCTCACAT	0.448000														213			41		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850356	245850356	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850356C>T	uc001ibf.1	+	11	4511	c.4071C>T	c.(4069-4071)atC>atT	p.I1357I	KIF26B_uc001ibg.1_Silent_p.I975I|KIF26B_uc001ibh.1_Silent_p.I599I	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1357					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGCCCCCATCAAAGGCTGCA	0.542000														49			13		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196642123	196642123	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196642123C>A	uc001gtj.4	+	1	314	c.74C>A	c.(73-75)cCt>cAt	p.P25H	CFH_uc001gti.4_Missense_Mutation_p.P25H|CFH_uc009wyw.3_Missense_Mutation_p.P25H|CFH_uc009wyx.3_Missense_Mutation_p.P25H	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	25	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATGAACTTCCTCCAAGAAGA	0.348000														64			8		1.26484e-09	1.4081e-09	1	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37947216	37947216	+	Missense_Mutation	SNP	C	T	T	rs141438153	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37947216C>T	uc001cbb.4	+	3	748	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	ZC3H12A_uc001cbc.1_5'UTR	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	200					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACATCCTGCGGGAACTGGA	0.602000														134			19		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64532244	64532244	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532244G>T	uc001xgl.3	+	50	10537	c.10307G>T	c.(10306-10308)gGc>gTc	p.G3436V	SYNE2_uc001xgm.3_Missense_Mutation_p.G3436V|SYNE2_uc021ruh.1_Missense_Mutation_p.G3469V|SYNE2_uc010apw.1_Missense_Mutation_p.G142V	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3436					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAAAATGATGGCATATGTTTG	0.443000														91			7		0.00307968	0.00313564	1	1	0
IQGAP2	10788	broad.mit.edu	37	5	75932970	75932970	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75932970A>C	uc003kek.3	+	15	2114	c.1892A>C	c.(1891-1893)aAa>aCa	p.K631T	IQGAP2_uc010izv.2_Missense_Mutation_p.K184T|IQGAP2_uc011csv.2_Missense_Mutation_p.K184T|IQGAP2_uc003kel.3_Missense_Mutation_p.K184T	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	631					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGCTTGTATAAAGAATCATGG	0.373000														114			27		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140416117	140416117	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140416117G>T	uc010ncj.1	-	9	1265	c.928C>A	c.(928-930)Ctc>Atc	p.L310I	PNPLA7_uc011mfa.1_Missense_Mutation_p.L16I|PNPLA7_uc004cnf.2_Missense_Mutation_p.L285I	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	285					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTCAGGCCGAGGTAGTTGTGC	0.592000														154			11		0.00829132	0.00840732	1	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475623	75475623	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75475623G>A	uc003dpp.4	-	6	974	c.615C>T	c.(613-615)tgC>tgT	p.C205C	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Silent_p.C113C|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		TGAACAGCTGGCACGTCTCTG	0.647000														231			17		0	0	1	0	0
PRC1	9055	broad.mit.edu	37	15	91512344	91512344	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91512344G>A	uc002bqm.3	-	13	1913	c.1756C>T	c.(1756-1758)Ccg>Tcg	p.P586S	PRC1_uc002bqn.3_Intron|PRC1_uc002bqo.3_Intron|PRC1_uc010uqs.2_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	586	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					GAGAGGGACGGATCCTTCTAA	0.488000														65			7		0	0	1	0	0
FADS1	3992	broad.mit.edu	37	11	61580775	61580775	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61580775C>A	uc010rlm.2	-	1	554	c.426G>T	c.(424-426)atG>atT	p.M142I	FADS2_uc001nsj.2_5'Flank|FADS1_uc001nsh.3_Missense_Mutation_p.M1I|FADS1_uc010rln.1_Missense_Mutation_p.M1I	NM_013402	NP_037534	O60427	FADS1_HUMAN	Homo sapiens fatty acid desaturase 1 (FADS1), mRNA.	85					cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport	endoplasmic reticulum membrane|integral to membrane|microsome	C-5 sterol desaturase activity|heme binding|protein binding			central_nervous_system(1)|endometrium(1)|lung(1)|urinary_tract(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GGAGAGAGTTCATATACTTCT	0.512000														237			51		1.63038e-21	2.00258e-21	1	1	0
MAPK8IP3	23162	broad.mit.edu	37	16	1756509	1756509	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1756509C>T	uc010uvl.2	+	0	289	c.169C>T	c.(169-171)Ccg>Tcg	p.P57S	MAPK8IP3_uc002cmi.1_Missense_Mutation_p.P57S|MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.P57S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.P57S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.P57S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	57					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GGAGCTCATGCCGCTGGTGGT	0.642000														76			18		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27684682	27684682	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27684682C>T	uc002rku.3	-	20	2188	c.2137G>A	c.(2137-2139)Ggc>Agc	p.G713S		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	713					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TGGTACATGCCCATGGCCTCC	0.517000														90			25		0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77569467	77569467	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77569467G>T	uc003ugs.4	+	12	1714	c.1588G>T	c.(1588-1590)Gca>Tca	p.A530S	PHTF2_uc003ugp.3_Missense_Mutation_p.A492S|PHTF2_uc010ldv.3_Missense_Mutation_p.A492S|PHTF2_uc003ugq.4_Missense_Mutation_p.A492S|PHTF2_uc003ugt.4_Missense_Mutation_p.A496S|PHTF2_uc003ugu.4_Missense_Mutation_p.A492S|PHTF2_uc022agp.1_Missense_Mutation_p.A530S|PHTF2_uc010ldw.2_Missense_Mutation_p.A312S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACAACTCACAGCACATTCTGC	0.373000														46			12		3.07112e-06	3.25591e-06	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132277901	132277901	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132277901C>A	uc003eov.4	-	19	2637	c.2257G>T	c.(2257-2259)Gca>Tca	p.A753S		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGTCCATCTGCTAAACGCAAA	0.458000														71			15		1.05317e-09	1.17384e-09	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21519246	21519246	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21519246C>A	uc002kuq.3	+	67	9008	c.8922C>A	c.(8920-8922)tgC>tgA	p.C2974*	LAMA3_uc002kur.3_Nonsense_Mutation_p.C2918*|LAMA3_uc002kus.4_Nonsense_Mutation_p.C1365*|LAMA3_uc002kut.4_Nonsense_Mutation_p.C1309*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2974					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGATGCTTGCTCACCACTTC	0.542000														310			12		2.80697e-09	3.10977e-09	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51791720C>T	uc010ufy.2	-	17	3926	c.3701G>A	c.(3700-3702)aGa>aAa	p.R1234K	DMXL2_uc002abf.3_Missense_Mutation_p.R1234K|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428000														152			23		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14336786	14336786	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336786C>T	uc003jff.3	+	10	2002	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Nonsense_Mutation_p.R617*|TRIO_uc003jfh.1_Nonsense_Mutation_p.R315*	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	666					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTTGAGCAGCGAAAGATCCT	0.498000														92			14		0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72756150	72756150	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72756150G>A	uc003xyx.1	-	0	582	c.264C>T	c.(262-264)ggC>ggT	p.G88G	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	88	Gly-rich.|Poly-Gly.				transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TGCCACCACCGCCCGCGCTAC	0.741000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			8		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77398216	77398216	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77398216G>A	uc002ffc.4	-	4	1260	c.841C>T	c.(841-843)Cga>Tga	p.R281*	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	281					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R281Q(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTCTGGGTCGCCCAGAGCTC	0.478000														93			36		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169474616	169474616	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169474616C>T	uc003maf.3	+	39	4149	c.4069C>T	c.(4069-4071)Cgg>Tgg	p.R1357W	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R849W	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1357	DHR-2.|Interaction with CRKL.				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.L1356L(2)|p.R1357W(2)		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)			CTCCTTCCTGCGGGTGAGTTT	0.542000														91			14		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107315528	107315528	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107315528T>C	uc003vep.3	+	5	963	c.739T>C	c.(739-741)Tac>Cac	p.Y247H	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	247					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AACCAAAAACTACAATGGAGT	0.433000									Pendred syndrome					233			43		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263085	39263085	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263085G>A	uc001uwv.3	+	0	1913	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	535					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGGTGCTTCGCATGGTGGAT	0.587000														48			11		0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103564019	103564019	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564019C>A	uc003ykt.2	+	0	172	c.64C>A	c.(64-66)Cta>Ata	p.L22I		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	22					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GGACAGAGAACTAAGGCAACT	0.488000														196			48		2.68985e-26	3.3603e-26	1	1	0
DPYS	1807	broad.mit.edu	37	8	105456654	105456654	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105456654C>A	uc003yly.4	-	3	744	c.615G>T	c.(613-615)aaG>aaT	p.K205N		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	205					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GAGCCAACATCTTCTTTGCTC	0.488000														123			9		0.000274275	0.000282808	1	1	0
TGM7	116179	broad.mit.edu	37	15	43574251	43574251	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43574251G>A	uc001zrf.1	-	8	1147	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	381					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTCCCTGATGGCCTTCACAGA	0.607000														51			7		0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723238	58723238	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58723238T>A	uc001nnh.2	+	6	790	c.740T>A	c.(739-741)gTc>gAc	p.V247D	GLYATL1_uc001nnf.3_Missense_Mutation_p.V216D|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.V216D|GLYATL1_uc001nnj.2_Missense_Mutation_p.V216D	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	216						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CCAGAGGGAGTCCCGGTCTCA	0.532000														90			14		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	199011668	199011668	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:199011668G>A	uc010fsp.3	+	5	3668	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	PLCL1_uc002uuv.4_Silent_p.E1011E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1090					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAAGTAGTGAGGAGAATGGGA	0.483000														72			13		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905684	76905684	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905684G>A	uc001xsr.3	+	4	359	c.-12_splice	c.e4-1		ESRRB_uc001xso.3_Splice_Site|ESRRB_uc001xsq.1_Splice_Site	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		GTGTCCACAGGCTGCTGAACA	0.647000														331			17		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33031179	33031179	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33031179C>T	uc001rlj.4	-	2	750	c.635G>A	c.(634-636)cGc>cAc	p.R212H	PKP2_uc001rlk.4_Missense_Mutation_p.R212H|PKP2_uc010skj.2_Missense_Mutation_p.R212H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	212					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTCAAAGTGGCGCTGCCTGCT	0.612000														151			35		0	0	1	0	0
GRHL3	57822	broad.mit.edu	37	1	24663190	24663190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24663190G>A	uc021oiw.1	+	3	715	c.485G>A	c.(484-486)aGc>aAc	p.S162N	GRHL3_uc001bix.3_Missense_Mutation_p.S162N|GRHL3_uc021oix.1_Missense_Mutation_p.S116N|GRHL3_uc001biy.3_Missense_Mutation_p.S167N|GRHL3_uc001biz.3_Missense_Mutation_p.S69N	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	162					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TCTGTGGACAGCTACCTGTTA	0.597000														284			34		0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297274	117297274	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297274C>T	uc001egu.4	+	1	112	c.83C>T	c.(82-84)aCg>aTg	p.T28M	CD2_uc010owz.1_Missense_Mutation_p.T28M|CD2_uc010oxa.1_Missense_Mutation_p.T28M	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	28	Ig-like V-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAAGAGATTACGAATGCCTTG	0.413000														139			19		0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8794867	8794867	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8794867G>T	uc003brc.3	-	3	1588	c.966C>A	c.(964-966)agC>agA	p.S322R		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	322					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GGTTGCAGCAGCTGTTGAGGC	0.592000														114			8		1.06961e-07	1.15953e-07	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64496734	64496734	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64496734C>A	uc001xgl.3	+	43	7066	c.6836C>A	c.(6835-6837)cCt>cAt	p.P2279H	SYNE2_uc001xgm.3_Missense_Mutation_p.P2279H|SYNE2_uc021ruh.1_Missense_Mutation_p.P2279H	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2279					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGATAAGCCTGTGGATCAA	0.378000														42			17		4.63292e-17	5.5492e-17	1	1	0
UNC13A	23025	broad.mit.edu	37	19	17735744	17735744	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17735744T>C	uc021uqk.1	-	34	4130	c.4088A>G	c.(4087-4089)aAa>aGa	p.K1363R		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1364	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCACAGATTTTGGCAAAGAG	0.582000														118			22		0	0	1	0	0
SRP54	6729	broad.mit.edu	37	14	35483956	35483956	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35483956G>A	uc001wso.3	+	10	1244	c.893G>A	c.(892-894)gGc>gAc	p.G298D	SRP54_uc010tpp.2_Missense_Mutation_p.G249D|SRP54_uc010tpq.2_Missense_Mutation_p.G234D	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	298	M-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATAGGTATGGGCGACATTGAA	0.328000														106			28		0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37955920	37955920	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37955920G>A	uc003tfo.4	-	0	606	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_003014	NP_003005	Q6FHJ7	SFRP4_HUMAN	Homo sapiens secreted frizzled-related protein 4 (SFRP4), mRNA.	74	FZ.				Wnt receptor signaling pathway|brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of JNK cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGGAAGAAGCGCAGCACGGCG	0.637000														146			21		0	0	1	0	0
TXNL1	9352	broad.mit.edu	37	18	54281785	54281785	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54281785C>T	uc002lgg.3	-	5	1204	c.605G>A	c.(604-606)cGa>cAa	p.R202Q	TXNL1_uc010xdz.2_Non-coding_Transcript|TXNL1_uc002lgh.3_Non-coding_Transcript|TXNL1_uc002lgi.3_Missense_Mutation_p.R202Q|TXNL1_uc002lgj.1_Missense_Mutation_p.R202Q	NM_004786	NP_004777	O43396	TXNL1_HUMAN	Homo sapiens thioredoxin-like 1 (TXNL1), transcript variant 1, mRNA.	202	PITH.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	cytoplasm	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		ATCCATAGATCGGGGTAGGTT	0.348000														45			9		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119535964	119535964	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535964G>A	uc001pwv.3	-	5	1219	c.1047C>T	c.(1045-1047)gcC>gcT	p.A349A	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	349					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.R348H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCACCGGCCCGGCGCGCCGCC	0.677000														98			25		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123526164	123526164	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123526164T>C	uc010nqy.3	-	27	5490	c.5426A>G	c.(5425-5427)gAt>gGt	p.D1809G	ODZ1_uc011muj.2_Missense_Mutation_p.D1808G|ODZ1_uc004euj.3_Missense_Mutation_p.D1802G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1802					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GGTTATATGATCAAAATCTAT	0.423000														99			32		0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210944	205210944	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205210944C>T	uc021pia.1	+	1	1174	c.519C>T	c.(517-519)ggC>ggT	p.G173G	TMCC2_uc010prf.2_Silent_p.G95G	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	173						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			gcagtgggggcggcagcagcg	0.736000														39			12		0	0	1	0	0
TSTA3	7264	broad.mit.edu	37	8	144695733	144695733	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144695733C>T	uc003yza.2	-	8	807	c.771G>A	c.(769-771)gaG>gaA	p.E257E	TSTA3_uc003yzb.2_Silent_p.E257E	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	257					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	CCACCACCGCCTCGGCTGCCT	0.667000														61			9		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39291557	39291557	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39291557C>A	uc003gty.2	-	23	3414	c.3274G>T	c.(3274-3276)Gat>Tat	p.D1092Y	RFC1_uc003gtx.2_Missense_Mutation_p.D1091Y	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	1092					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	p.S1092L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TATTCCGAATCCAGGGATGGG	0.403000														185			48		3.21987e-24	3.99968e-24	1	1	0
CYP2A13	1553	broad.mit.edu	37	19	41601664	41601664	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41601664G>T	uc002opt.3	+	9	1313	c.1304_splice	c.e9-1	p.G435_splice		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	435					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CTCCTCCTCAGGAAAGCGGTA	0.577000														190			34		4.74835e-14	5.56603e-14	1	1	0
GDF7	151449	broad.mit.edu	37	2	20871120	20871120	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20871120G>A	uc002rdz.1	+	1	1864	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	430					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACATCGACGCCGCCAACAA	0.662000														88			13		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158851209	158851209	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158851209A>G	uc003woh.3	-	4	604	c.418T>C	c.(418-420)Tct>Cct	p.S140P	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	140					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GTTGCAAGAGACATCAGAGAG	0.408000														182			31		0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48259054	48259054	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48259054G>T	uc002xuu.4	-	4	751	c.557C>A	c.(556-558)cCc>cAc	p.P186H		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	186					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CTGGAGCATGGGAAGCAGGTG	0.493000														140			19		0.000958276	0.000982219	1	1	0
SBF1	6305	broad.mit.edu	37	22	50903334	50903334	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50903334C>T	uc003blh.3	-	12	1540	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	SBF1_uc011arx.2_Missense_Mutation_p.E113K|SBF1_uc003bli.2_Missense_Mutation_p.E450K	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	449					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)		CTTGCCACCTCGTGGGCCACC	0.642000														131			22		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130027777	130027777	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130027777G>A	uc003vpx.3	+	9	1257	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q		NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	395					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGCCTCCCAGATCATCCCCA	0.577000														497			103		0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149929267	149929267	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149929267C>T	uc003lsk.4	+	12	2846	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	NDST1_uc011dcj.2_Missense_Mutation_p.R725C	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	782	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAACTGCTTCGCACAGAACC	0.532000														43			13		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50318311	50318311	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50318311C>A	uc010anj.1	-	2	269	c.201G>T	c.(199-201)aaG>aaT	p.K67N	NEMF_uc001wxc.3_Missense_Mutation_p.K67N|NEMF_uc010tqi.2_Missense_Mutation_p.K67N|NEMF_uc001wxe.2_Missense_Mutation_p.K67N|NEMF_uc010anq.1_5'UTR	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	67						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GCATCATATTCTTAGGCCACT	0.343000														90			15		5.3912e-06	5.69533e-06	1	1	0
FBXO27	126433	broad.mit.edu	37	19	39517624	39517624	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39517624G>A	uc002okh.3	-	4	676	c.594C>T	c.(592-594)agC>agT	p.S198S		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	198	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACATACAGCCGCTGTCGTGTC	0.562000														230			36		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186088957	186088957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186088957G>A	uc001grq.1	+	78	12266	c.12037G>A	c.(12037-12039)Ggg>Agg	p.G4013R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4013	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGAAGCAACAGGGACACCCAG	0.393000														82			28		0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72937646	72937646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72937646C>T	uc010wrr.2	+	1	232	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	OTOP3_uc010wrq.2_Missense_Mutation_p.R60W	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	78						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					TCTGCTGCTGCGGCGGGACCG	0.652000														72			18		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22902012	22902012	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22902012G>A	uc002kvk.2	-	2	427	c.180C>T	c.(178-180)agC>agT	p.S60S	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.S60S|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	60					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTGTGATATCGCTCAGCGATT	0.428000			T	PAX5	ALL									173			32		0	0	1	0	0
CDKL1	8814	broad.mit.edu	37	14	50799011	50799011	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50799011C>T	uc001wxz.3	-	7	991	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	ATP5S_uc010ant.2_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	312						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	p.R313Q(3)		endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					GTGGTGCTTTCGGCTCTTTCT	0.418000														271			49		0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50321657	50321657	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50321657T>A	uc002ppw.2	+	0	122	c.59T>A	c.(58-60)tTt>tAt	p.F20Y	MED25_uc010ybe.2_Missense_Mutation_p.F20Y|MED25_uc010enl.2_Missense_Mutation_p.F20Y	NM_030973	NP_112235	Q71SY5	MED25_HUMAN	Homo sapiens mediator complex subunit 25 (MED25), mRNA.	20	Interaction with the Mediator complex.			F -> S (in Ref. 1; AAM20739).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		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;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GACGTGGTGTTTGTGATTGAG	0.682000														87			12		0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162467986	162467986	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162467986G>A	uc001gcc.2	+	0	392	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	UHMK1_uc001gcd.3_Intron|UHMK1_uc009wuu.2_Missense_Mutation_p.A66T	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	66	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	RNA binding|protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CGGGGCTGCGGCCTCTGCCGC	0.642000														70			15		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11207077	11207077	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11207077G>A	uc004cup.1	-	3	1721	c.848C>T	c.(847-849)cCc>cTc	p.P283L	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.P283L|ARHGAP6_uc004cum.1_Missense_Mutation_p.P80L|ARHGAP6_uc004cun.1_Missense_Mutation_p.P103L|ARHGAP6_uc010neb.1_Missense_Mutation_p.P105L|ARHGAP6_uc011mif.1_Missense_Mutation_p.P80L	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	283					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTGGGATAAGGGCATTCCAAA	0.458000														92			6		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202462	140202462	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202462A>G	uc003lhl.2	+	0	1102	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	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_uc003lhk.1_Missense_Mutation_p.I368V|PCDHAC2_uc003lhj.1_Missense_Mutation_p.I368V	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	384					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGGTCATTGCTCTGAT	0.537000														214			48		0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221913078	221913078	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221913078C>T	uc001hmy.2	-	1	246	c.9G>A	c.(7-9)ccG>ccA	p.P3P	DUSP10_uc001hmx.2_5'Flank|DUSP10_uc001hmz.2_Intron	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	3					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.P3P(2)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTAAAGGAGACGGAGGCATGA	0.483000														149			15		0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93206839	93206839	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93206839C>A	uc001tck.3	-	15	2225	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	654	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GCTGCTTCTGCTGATAGTAAT	0.358000														98			11		2.80697e-09	3.10977e-09	1	1	0
CLIP3	25999	broad.mit.edu	37	19	36517509	36517509	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517509G>T	uc010eeq.2	-	3	855	c.541C>A	c.(541-543)Ctg>Atg	p.L181M	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.L181M	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	181					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCACCCTTCAGCAGCACACGC	0.677000														87			14		0.0242445	0.024448	1	1	0
CYP4Z1	199974	broad.mit.edu	37	1	47533229	47533229	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47533229T>G	uc001cqu.1	+	0	70	c.67T>G	c.(67-69)Tct>Gct	p.S23A		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	23						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTCTGCATGTCTCTGCTGCT	0.557000														70			11		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075652	106075652	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075652A>G	uc001kyf.3	-	2	611	c.158T>C	c.(157-159)tTg>tCg	p.L53S	ITPRIP_uc001kye.3_Missense_Mutation_p.L53S|ITPRIP_uc001kyg.3_Missense_Mutation_p.L53S|ITPRIP_uc021pxv.1_Missense_Mutation_p.L53S	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	53						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CTCCAGGCGCAACTGCTCCAG	0.672000														254			62		0	0	1	0	0
TMEM85	51234	broad.mit.edu	37	15	34520760	34520760	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34520760G>A	uc001zhq.3	+	3	557	c.486G>A	c.(484-486)tcG>tcA	p.S162S	TMEM85_uc001zhs.3_Intron	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	Homo sapiens transmembrane protein 85 (TMEM85), mRNA.	162					apoptosis	integral to membrane		p.S162S(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		CACATGCATCGGATTGGTTAG	0.448000														223			56		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	32992713	32992713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32992713G>A	uc003amx.3	-	5	883	c.721C>T	c.(721-723)Cca>Tca	p.P241S	SYN3_uc003amy.3_Missense_Mutation_p.P241S|SYN3_uc003amz.3_Missense_Mutation_p.P240S	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	241	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGGAAGTGTGGGGCTGTGACC	0.512000														68			13		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793999	167793999	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793999A>T	uc001ger.3	-	26	4143	c.3845T>A	c.(3844-3846)aTc>aAc	p.I1282N	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.I1129N|ADCY10_uc009wvk.3_Missense_Mutation_p.I1190N	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1282					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GAGGTTGAAGATGTGCTCCAT	0.488000														288			67		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943253	144943253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144943253C>T	uc003zaa.1	-	0	4182	c.4169G>A	c.(4168-4170)aGc>aAc	p.S1390N		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1390						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCACCTGGCTCGTCTGTGT	0.647000														75			18		0	0	1	0	0
OR6N1	128372	broad.mit.edu	37	1	158735907	158735907	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158735907C>T	uc010piq.2	-	0	566	c.566G>A	c.(565-567)tGc>tAc	p.C189Y		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	189					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)					CGTATCAGTGCAAGCCAAACT	0.458000														179			40		0	0	1	0	0
GANAB	23193	broad.mit.edu	37	11	62400663	62400663	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62400663C>A	uc001nua.3	-	7	810	c.777G>T	c.(775-777)aaG>aaT	p.K259N	GANAB_uc001nub.3_Missense_Mutation_p.K237N|GANAB_uc001nuc.3_Missense_Mutation_p.K140N|GANAB_uc010rma.2_Missense_Mutation_p.K145N|GANAB_uc010rmb.2_Missense_Mutation_p.K123N	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	237					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding	p.G258G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						CACCATACGGCTTGCTGTCAG	0.537000														204			52		1.11015e-26	1.38861e-26	1	1	0
LOC440563	440563	broad.mit.edu	37	1	13183367	13183367	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13183367G>A	uc010obg.2	-	1	749	c.506C>T	c.(505-507)tCt>tTt	p.S169F		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	169						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										AGACTTGGAAGATCCCCGCTT	0.483000														806			73		0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110762985	110762985	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:110762985G>T	uc003vft.4	+	3	1203	c.157G>T	c.(157-159)Gtg>Ttg	p.V53L	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.V53L|LRRN3_uc003vfs.4_Missense_Mutation_p.V53L|LRRN3_uc022akc.1_Missense_Mutation_p.V53L	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	53	LRRNT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCATCTACAGTGGATTGTAA	0.378000														144			19		7.45023e-12	8.53574e-12	1	1	0
UMODL1	89766	broad.mit.edu	37	21	43547924	43547924	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43547924G>A	uc002zag.1	+	18	4057	c.4057G>A	c.(4057-4059)Gga>Aga	p.G1353R	UMODL1_uc002zad.1_Missense_Mutation_p.G1153R|UMODL1_uc002zae.1_Missense_Mutation_p.G1281R|UMODL1_uc002zaf.1_Missense_Mutation_p.G1225R|UMODL1_uc002zal.1_Missense_Mutation_p.G175R|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1225						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGAATCCCCCGGAGCCACGTG	0.453000														115			8		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109696078	109696078	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109696078C>T	uc004eor.2	+	2	2479	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	RGAG1_uc011msr.1_Nonsense_Mutation_p.Q745*	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	745										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGGAGGGATGCAGATGAATTC	0.527000														121			30		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75971390	75971390	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75971390G>A	uc003hih.2	+	3	1119	c.866G>A	c.(865-867)aGa>aAa	p.R289K		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	289					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCCTATGGAAGACTTTTGGAC	0.493000														52			9		0	0	1	0	0
CITED2	10370	broad.mit.edu	37	6	139694740	139694740	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139694740C>T	uc021zfz.1	-	1	432	c.342G>A	c.(340-342)atG>atA	p.M114I	CITED2_uc021zga.1_Missense_Mutation_p.M114I|CITED2_uc003qip.1_Missense_Mutation_p.M114I|CITED2_uc021zgb.1_Missense_Mutation_p.M114I	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	114					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	LBD domain binding|chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TCTGCAGCTGCATGCTGGCCG	0.642000														152			35		0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187449609	187449609	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187449609A>G	uc003frp.3	-	3	728	c.271T>C	c.(271-273)Tac>Cac	p.Y91H	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.Y91H|BCL6_uc010hza.2_5'UTR|BCL6_uc003frq.2_Missense_Mutation_p.Y91H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	91	BTB.				negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CGAGATGTGTACATGAAGTCC	0.488000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									108			7		0	0	1	0	0
C2orf57	165100	broad.mit.edu	37	2	232458282	232458282	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232458282C>A	uc002vrz.3	+	0	708	c.620C>A	c.(619-621)gCt>gAt	p.A207D		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	207										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CACCCTGAAGCTGAAGCTTTA	0.577000														181			77		2.6465e-34	3.34731e-34	1	1	0
CSMD1	64478	broad.mit.edu	37	8	2832035	2832035	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2832035C>T	uc022aqr.1	-	55	9068	c.8678G>A	c.(8677-8679)gGc>gAc	p.G2893D	CSMD1_uc011kwj.2_Missense_Mutation_p.G2223D|CSMD1_uc010lrg.3_Missense_Mutation_p.G904D	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2894	Sushi 21.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTGTCGTTGCCTATGAGGCT	0.597000														51			9		0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48252742	48252742	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48252742C>T	uc002iqi.3	+	8	1144	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	SGCA_uc002iqj.3_Missense_Mutation_p.R246W|SGCA_uc010wmi.2_Non-coding_Transcript|HILS1_uc010wmj.2_5'Flank|BC033456_uc002iqk.3_Intron	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	370					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CACAGGTGAGCGGCTGCCTCC	0.652000														81			17		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148925405	148925405	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148925405C>A	uc003ewy.4	-	5	1035	c.782_splice	c.e5-1	p.S261_splice	CP_uc011bnr.2_Splice_Site|CP_uc003ewx.4_Splice_Site_p.S42_splice|CP_uc003ewz.3_Splice_Site_p.S261_splice|CP_uc010hvf.1_Splice_Site	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	261	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCATTCACAGCTGTAAGTCAA	0.378000														96			13		6.72482e-11	7.60803e-11	1	1	0
GLDN	342035	broad.mit.edu	37	15	51696637	51696637	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51696637C>A	uc002aba.3	+	9	1511	c.1342C>A	c.(1342-1344)Ctt>Att	p.L448I	GLDN_uc002abb.3_Missense_Mutation_p.L324I	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	448	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CTCGAGCATTCTTGTAGCACA	0.448000														244			16		1.5739e-10	1.77479e-10	1	1	0
SLC2A2	6514	broad.mit.edu	37	3	170716177	170716177	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170716177G>T	uc003fhe.1	-	9	1488	c.1179C>A	c.(1177-1179)ttC>ttA	p.F393L	SLC2A2_uc003fhf.1_Missense_Mutation_p.F220L|SLC2A2_uc011bpu.1_Missense_Mutation_p.F266L	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	393					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCATCCAAGAGAACTTATTCT	0.443000														61			17		4.14922e-12	4.76557e-12	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101383834	101383834	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101383834C>T	uc003dve.4	-	3	1827	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGGGAACGGCTTTCCGTTTC	0.408000														193			48		0	0	1	0	0
KIAA0090	23065	broad.mit.edu	37	1	19545802	19545802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19545802G>A	uc001bbo.3	-	22	3020	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Nonsense_Mutation_p.R992*|KIAA0090_uc001bbq.3_Nonsense_Mutation_p.R992*|KIAA0090_uc001bbr.3_Nonsense_Mutation_p.R971*	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	993						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		GTTCTTTATCGCCAGGCCCGA	0.507000														71			16		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212833	26212833	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212833G>A	uc022buc.1	+	0	870	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MAGEB6_uc004dbr.3_Silent_p.S290S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	290	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TCCTGATGTCGCTCCTGGTTG	0.547000														232			68		0	0	1	0	0
FAM186B	84070	broad.mit.edu	37	12	49993797	49993797	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49993797C>A	uc001ruo.3	-	3	1799	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	FAM186B_uc010smk.2_Missense_Mutation_p.E452D	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	542						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCCGTGGGCTCTCCTGCTCCT	0.587000														134			31		1.30897e-18	1.58338e-18	1	1	0
BC063132	0	broad.mit.edu	37	GL000241.1	25598	25598	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000241.1:25598G>A	uc011mgv.2	-	3		c.394C>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CTGTCCACCAGATTCCTAAAA	0.294000														472			25		0	0	1	0	0
LIPH	200879	broad.mit.edu	37	3	185232288	185232288	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185232288A>C	uc003fpm.3	-	7	1114	c.1004T>G	c.(1003-1005)aTt>aGt	p.I335S	LIPH_uc010hyh.3_Missense_Mutation_p.I301S	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	335					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCATGTTATAATATCCACAAA	0.393000														81			14		0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8118259	8118259	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8118259A>C	uc001mga.3	+	5	742	c.593A>C	c.(592-594)gAg>gCg	p.E198A	TUB_uc010rbk.2_Missense_Mutation_p.E204A|TUB_uc001mfy.3_Missense_Mutation_p.E253A	NM_177972	NP_813977	P50607	TUB_HUMAN	Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA.	198	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		AGCTTTGACGAGGATGAGGAG	0.542000														109			18		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42858175	42858175	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42858175C>T	uc002otl.4	+	21	4445	c.3810_splice	c.e21+1	p.T1270_splice	MEGF8_uc002otm.4_Splice_Site_p.T878_splice	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1337	CUB 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACCCCCTGCACGGTGAGCACT	0.622000														19			5		0	0	1	0	0
KCTD5	54442	broad.mit.edu	37	16	2752365	2752365	+	Silent	SNP	C	T	T	rs118149302	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2752365C>T	uc002crd.3	+	4	616	c.561C>T	c.(559-561)atC>atT	p.I187I		NM_018992	NP_061865	Q9NXV2	KCTD5_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 5 (KCTD5), mRNA.	187					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						TGGTCAGCATCGGCTCCTCTT	0.602000														130			11		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111739395	111739395	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111739395C>T	uc010rwn.2	-	1	296	c.197G>A	c.(196-198)cGc>cAc	p.R66H	ALG9_uc001ply.3_5'UTR|ALG9_uc001plz.3_5'UTR|ALG9_uc021qql.1_5'UTR|ALG9_uc021qqm.1_5'UTR|ALG9_uc010rwo.2_5'UTR|ALG9_uc009yyh.1_Missense_Mutation_p.A31T	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	112					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGCATAGGAGCGAATGGCATA	0.433000														72			18		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67004260	67004260	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67004260C>T	uc002jhu.3	-	23	3407	c.3264G>A	c.(3262-3264)atG>atA	p.M1088I	ABCA9_uc010dez.3_Missense_Mutation_p.M1088I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1088					transport	integral to membrane	ATP binding|ATPase activity	p.I1087K(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAATATAATCCATTATTTGCA	0.363000														119			11		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10438497	10438497	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10438497C>A	uc010coi.3	-	18	2201	c.2073G>T	c.(2071-2073)gaG>gaT	p.E691D	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E691D|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	691	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.M690N(1)|p.M690K(1)|p.M690I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAGCTCATGCTCCATGGCAC	0.453000														101			24		3.5997e-14	4.22413e-14	1	1	0
TANC1	85461	broad.mit.edu	37	2	160084456	160084456	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160084456C>T	uc002uag.3	+	24	4304	c.4030C>T	c.(4030-4032)Cga>Tga	p.R1344*	TANC1_uc010zcm.2_Nonsense_Mutation_p.R1336*|TANC1_uc010fom.1_Nonsense_Mutation_p.R1150*|TANC1_uc010fon.3_Nonsense_Mutation_p.R188*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1344						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CAATTTGTCGCGATGCCGAAG	0.483000														127			40		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24942726	24942726	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24942726C>A	uc002dnb.3	-	19	1988	c.1895_splice	c.e19-1	p.A632_splice	ARHGAP17_uc002dmw.3_Splice_Site|ARHGAP17_uc002dmy.3_Splice_Site_p.A77_splice|ARHGAP17_uc002dmz.3_Splice_Site_p.A156_splice|ARHGAP17_uc002dna.3_Splice_Site_p.A359_splice|ARHGAP17_uc002dnc.3_Splice_Site_p.A554_splice|ARHGAP17_uc010vcf.2_Splice_Site_p.A375_splice	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	632	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTTTTAACAGCTGCACAAaaa	0.537000														143			58		1.14385e-22	1.41145e-22	1	1	0
FLOT1	10211	broad.mit.edu	37	6	30709395	30709395	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30709395G>A	uc003nrm.3	-	3	370	c.206C>T	c.(205-207)gCc>gTc	p.A69V	FLOT1_uc011dmr.2_Missense_Mutation_p.A69V	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	69						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTCACCTGGGCAATGCCAGT	0.507000														215			43		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64171175	64171175	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64171175T>C	uc002jfl.3	-	3	676	c.457A>G	c.(457-459)Act>Gct	p.T153A	CEP112_uc002jfm.3_Missense_Mutation_p.T153A|CEP112_uc010dep.2_Missense_Mutation_p.T153A	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	153						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TAGACATCAGTTGGCGACTGT	0.373000														92			23		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1112516	1112516	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112516C>A	uc002lrk.4	-	20	2638	c.2400G>T	c.(2398-2400)gaG>gaT	p.E800D	SBNO2_uc002lrj.4_Missense_Mutation_p.E743D|SBNO2_uc010dse.3_Missense_Mutation_p.E783D	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	800					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTGGAGGCCTCCGAGATGA	0.701000														39			6		0.00198382	0.00202356	1	1	0
ZDHHC2	51201	broad.mit.edu	37	8	17055101	17055101	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055101C>A	uc003wxe.3	+	4	781	c.384C>A	c.(382-384)taC>taA	p.Y128*		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	128						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		CCATCCGATACTGTGACAGAT	0.368000														151			26		1.75199e-13	2.04201e-13	1	1	0
DIAPH3	81624	broad.mit.edu	37	13	60686224	60686224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60686224C>A	uc001vht.3	-	2	529	c.310G>T	c.(310-312)Gca>Tca	p.A104S	DIAPH3_uc001vhw.1_Missense_Mutation_p.A93S|DIAPH3_uc010aed.1_Missense_Mutation_p.A93S|DIAPH3_uc010aee.1_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	104					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAAGGTGCTGCTGAGCAATCA	0.408000														218			35		1.90571e-15	2.25613e-15	1	1	0
TBC1D5	9779	broad.mit.edu	37	3	17208310	17208310	+	Silent	SNP	G	T	T	rs143757025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17208310G>T	uc010hev.3	-	22	2373	c.2109C>A	c.(2107-2109)ggC>ggA	p.G703G	TBC1D5_uc010heu.3_Silent_p.G268G|TBC1D5_uc003cbf.3_Silent_p.G681G|TBC1D5_uc003cbe.3_Silent_p.G681G	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	681						intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTCGGCCCTGGCCCTGGCCGC	0.517000														146			29		3.73148e-12	4.28986e-12	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105836072	105836072	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105836072G>T	uc001kxr.3	-	4	487	c.318C>A	c.(316-318)cgC>cgA	p.R106R	COL17A1_uc010qqv.1_Silent_p.R106R|COL17A1_uc009xxp.1_Silent_p.R106R	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	106	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.R106S(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACGCATGGCGGGTAACGT	0.507000														145			29		5.52252e-06	5.82725e-06	1	1	0
SERPINB8	5271	broad.mit.edu	37	18	61650907	61650907	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61650907G>A	uc002ljv.3	+	4	688	c.519G>A	c.(517-519)gaG>gaA	p.E173E	SERPINB8_uc002ljt.3_Silent_p.E173E|SERPINB8_uc002lju.3_Silent_p.E173E|SERPINB8_uc010xex.2_5'UTR	NM_198833	NP_942130	P50452	SPB8_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 8 (SERPINB8), transcript variant 2, mRNA.	173					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				AGTGGAATGAGCAATTTGACA	0.393000														101			20		0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32690113	32690113	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32690113C>A	uc002hid.1	-	0	140	c.68G>T	c.(67-69)aGc>aTc	p.S23I		NM_002981	NP_002972	P22362	CCL1_HUMAN	Homo sapiens chemokine (C-C motif) ligand 1 (CCL1), mRNA.	23					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGCTCTTGCTGTCCACATC	0.572000														79			15		4.7546e-09	5.25358e-09	1	1	0
ADAM23	8745	broad.mit.edu	37	2	207424741	207424741	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207424741G>A	uc002vbq.3	+	10	1291	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	356	Peptidase M12B.				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)		GGACTGAGAAGGATCAGATTG	0.507000														80			13		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847814	22847814	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847814C>A	uc002nqw.3	+	3	1587	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGAGAGAAGCCCTACAAATAT	0.388000														62			7		0.00198382	0.00202356	1	1	0
C15orf55	256646	broad.mit.edu	37	15	34649317	34649317	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649317G>T	uc010ucc.2	+	7	3490	c.3108G>T	c.(3106-3108)aaG>aaT	p.K1036N	C15orf55_uc010ucd.2_Missense_Mutation_p.K1026N|C15orf55_uc001zif.3_Missense_Mutation_p.K1008N	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1008						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AAAAGAAAAAGGAAGCAGAGG	0.483000			T	"""BRD3, BRD4"""	lethal midline carcinoma									68			14		1.5842e-08	1.73923e-08	1	1	0
PLCB4	5332	broad.mit.edu	37	20	9389787	9389787	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9389787A>G	uc021wam.1	+	19	1937	c.1922A>G	c.(1921-1923)aAc>aGc	p.N641S	PLCB4_uc010gbw.1_Missense_Mutation_p.N641S|PLCB4_uc010gbx.3_Missense_Mutation_p.N653S|PLCB4_uc021wal.1_Missense_Mutation_p.N641S|PLCB4_uc002wnh.3_Missense_Mutation_p.N488S	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	641	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATTTTCTGGAACGCTGGCTGC	0.468000														41			13		0	0	1	0	0
ZNF707	286075	broad.mit.edu	37	8	144776463	144776463	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144776463C>T	uc003yze.4	+	6	1194	c.879C>T	c.(877-879)tgC>tgT	p.C293C	ZNF707_uc010mfh.3_Silent_p.C293C|ZNF707_uc010mfi.3_Silent_p.C293C|ZNF707_uc003yzf.4_Silent_p.C293C|ZNF707_uc003yzh.4_Silent_p.C220C|ZNF707_uc011lkq.1_Non-coding_Transcript|BREA2_uc010mfj.2_5'Flank	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCGCGGACTGCGGCAAAGCCT	0.627000														53			13		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240969500	240969500	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240969500A>C	uc001hyt.2	-	7	759	c.705T>G	c.(703-705)agT>agG	p.S235R	RGS7_uc010pyh.2_Missense_Mutation_p.S377R|RGS7_uc010pyj.1_Missense_Mutation_p.S319R|RGS7_uc001hyu.2_Missense_Mutation_p.S403R|RGS7_uc009xgn.1_Missense_Mutation_p.S350R|RGS7_uc001hyv.2_Missense_Mutation_p.S403R|RGS7_uc001hyw.2_Missense_Mutation_p.S403R	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	403					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTGTCATAACTCTTGGAAT	0.478000														132			44		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114500748	114500748	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114500748A>C	uc004bfr.3	-	9	1172	c.1037T>G	c.(1036-1038)aTa>aGa	p.I346R	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfs.1_Missense_Mutation_p.I410R|C9orf84_uc004bfq.3_Missense_Mutation_p.I307R|C9orf84_uc010mug.3_Missense_Mutation_p.I292R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	346										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AACAGAAAATATCTTTTTCAA	0.333000														69			10		0	0	1	0	0
BSG	682	broad.mit.edu	37	19	582313	582313	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:582313C>T	uc002loz.3	+	6	1175	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	BSG_uc002loy.3_Silent_p.D179D|BSG_uc021ulx.1_Silent_p.D150D|BSG_uc002lpa.3_Silent_p.D243D|BSG_uc002lpc.3_Silent_p.D406D	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	359	Poly-Asp.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGATGACGACGCCGGCTCTG	0.642000														153			39		0	0	1	0	0
HSF2	3298	broad.mit.edu	37	6	122753094	122753094	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:122753094C>T	uc003pyu.2	+	12	1527	c.1340C>T	c.(1339-1341)gCc>gTc	p.A447V	HSF2_uc003pyv.2_Missense_Mutation_p.A429V	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	447					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CAGTATACCGCCTTTCCACTT	0.413000														168			20		0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101256954	101256954	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101256954G>T	uc003uyr.3	-	6	748	c.570C>A	c.(568-570)ttC>ttA	p.F190L		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	190	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						CCTCCTCACTGAAGCGGTCTG	0.547000														154			25		3.6726e-16	4.37102e-16	1	1	0
GK	2710	broad.mit.edu	37	4	166199303	166199303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166199303G>A	uc003ird.3	-	0	1873	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	505					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						GTAGAATAACGAATTTCACTT	0.468000														76			16		0	0	1	0	0
ZNF419	79744	broad.mit.edu	37	19	58004751	58004751	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004751G>A	uc010ety.1	+	4	1069	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K	ZNF419_uc002qov.2_Missense_Mutation_p.E276K|ZNF419_uc010etz.1_Missense_Mutation_p.E264K|ZNF419_uc002qow.2_Missense_Mutation_p.E244K|ZNF419_uc010eua.1_Missense_Mutation_p.E263K|ZNF419_uc010eub.1_Missense_Mutation_p.E231K|ZNF419_uc010euc.1_Missense_Mutation_p.E230K	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		TCACCTCATTGAACACCAGAG	0.413000														113			24		0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57244420	57244420	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57244420G>T	uc003hbn.3	-	3	715	c.562C>A	c.(562-564)Cta>Ata	p.L188I	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Missense_Mutation_p.L88I|AASDH_uc011caa.2_Missense_Mutation_p.L35I|AASDH_uc011cab.2_Intron|AASDH_uc010ihc.3_Missense_Mutation_p.L188I|AASDH_uc003hbp.3_Missense_Mutation_p.L188I	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	188					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CAATGCTTTAGCCTCAGATCC	0.368000														133			34		3.11337e-16	3.70767e-16	1	1	0
FNDC1	84624	broad.mit.edu	37	6	159653575	159653575	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159653575G>A	uc010kjv.3	+	10	2231	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	FNDC1_uc010kjw.1_Silent_p.P562P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	677	Ser-rich.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCAGTCCCCGTCCAGCGTTC	0.706000														121			22		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51883833	51883833	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51883833C>T	uc002pwl.2	-	3	556	c.512G>A	c.(511-513)cGc>cAc	p.R171H	LIM2_uc002pwm.2_Missense_Mutation_p.R129H	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	129					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CCCAAAGCGGCGGCCCAGGAA	0.627000														317			76		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674853	130674853	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130674853C>T	uc004bss.3	-	3	581	c.305G>A	c.(304-306)cGc>cAc	p.R102H	ST6GALNAC4_uc004bst.3_Missense_Mutation_p.R18H	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	102					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						CTGGTTCATGCGGAACACGCA	0.677000														111			24		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37735568	37735568	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37735568A>G	uc004aag.1	+	12	1282	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	FRMPD1_uc004aah.1_Missense_Mutation_p.Y413C|FRMPD1_uc011lqm.2_Missense_Mutation_p.Y235C|FRMPD1_uc011lqn.2_Missense_Mutation_p.Y282C	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	413	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGAGAATCCTACATTGCCCTT	0.438000														120			27		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151884856	151884856	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151884856A>G	uc003wla.3	-	31	4956	c.4737T>C	c.(4735-4737)ccT>ccC	p.P1579P	MLL3_uc003wkz.3_Silent_p.P640P	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1579					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTCCGCTTCCAGGTGGCAAAG	0.413000			N		medulloblastoma									121			20		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77438548	77438548	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77438548G>A	uc001sym.4	-	5	1093	c.857C>T	c.(856-858)tCt>tTt	p.S286F		NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	286					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						AATTCTCAGAGACTTGTCTTT	0.393000														99			19		0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17447087	17447087	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17447087G>A	uc002zlw.3	-	5	1299	c.1191C>T	c.(1189-1191)ggC>ggT	p.G397G	GAB4_uc010gqs.1_3'UTR	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	397								p.G397C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGAGTGGGGAGCCAAGCAGGT	0.592000														139			35		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21131956	21131956	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21131956C>T	uc002npg.4	+	3	784	c.636C>T	c.(634-636)aaC>aaT	p.N212N	ZNF85_uc010ecn.3_Silent_p.N147N|ZNF85_uc010eco.3_Silent_p.N160N|ZNF85_uc002npi.3_Silent_p.N153N	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	212						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGCCTTTAACTGGTCCTCAA	0.368000														46			17		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8783729	8783729	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8783729C>T	uc002knr.2	+	5	761	c.619C>T	c.(619-621)Ctg>Ttg	p.L207L	SOGA2_uc002knq.2_Silent_p.L207L|SOGA2_uc010dkw.1_Silent_p.L45L	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	558																	GGAGGCCGAGCTGAAGCTGCG	0.642000														45			11		0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31380565	31380565	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31380565A>C	uc002wyc.3	+	8	1376	c.1055A>C	c.(1054-1056)aAc>aCc	p.N352T	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.3_Missense_Mutation_p.N352T|DNMT3B_uc002wye.3_Missense_Mutation_p.N352T|DNMT3B_uc010ztz.2_Missense_Mutation_p.N310T|DNMT3B_uc010zua.2_Missense_Mutation_p.N276T|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.N364T|DNMT3B_uc002wyg.3_Missense_Mutation_p.N51T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	352					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAACCCAACAACACGCAACCA	0.637000														104			27		0	0	1	0	0
PAPOLA	10914	broad.mit.edu	37	14	97018865	97018865	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:97018865G>A	uc001yfq.3	+	16	1787	c.1570G>A	c.(1570-1572)Gac>Aac	p.D524N	PAPOLA_uc001yfr.3_Missense_Mutation_p.D524N|PAPOLA_uc010twv.2_Missense_Mutation_p.D524N|PAPOLA_uc010avp.3_Missense_Mutation_p.D274N	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	524	Ser/Thr-rich.	Interaction with RNA (By similarity).			mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity	p.D524A(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGCAGCCTCGACTTGTCTAT	0.413000														111			30		0	0	1	0	0
FOXA1	3169	broad.mit.edu	37	14	38061834	38061834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38061834G>A	uc001wuf.3	-	1	467	c.155C>T	c.(154-156)aCc>aTc	p.T52I	FOXA1_uc010tpz.2_Missense_Mutation_p.T19I	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	52					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|double-stranded DNA binding|protein domain specific 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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CGTAGTCATGGTGTTCATGGT	0.612000														198			46		0	0	1	0	0
RPL2B	0	broad.mit.edu	37	16	436929	436929	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:436929G>A	uc002cgx.3	+	0	267	c.239G>A	c.(238-240)aGg>aAg	p.R80K	LOC100134368_uc002cgw.1_Intron					SubName: Full=Putative uncharacterized protein;																		CGACGCCGGAGGCGGCCTGAA	0.572000														171			43		0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20230563	20230563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20230563G>A	uc002zrv.3	-	1	294	c.93C>T	c.(91-93)tgC>tgT	p.C31C	RTN4R_uc002zru.3_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	31	LRRNT.				axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTAGCATACGCAGGCACCTG	0.667000														89			19		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150277639	150277639	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150277639C>T	uc021yfx.1	-	5	726	c.298G>A	c.(298-300)Gca>Aca	p.A100T	ZNF300_uc021yfy.1_Missense_Mutation_p.A84T|ZNF300_uc021yfz.1_Missense_Mutation_p.A48T	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCCCATCTGCCTGATATTCA	0.363000														98			16		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117069983	117069983	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117069983C>A	uc011lxl.2	+	58	5142	c.5142C>A	c.(5140-5142)tcC>tcA	p.S1714S	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Silent_p.S29S	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1714	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGCTGCTCCTCTGACACCA	0.567000														143			31		3.62531e-18	4.37168e-18	1	1	0
NUDT8	254552	broad.mit.edu	37	11	67397232	67397232	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67397232G>T	uc001omo.2	-	0	177	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	NUDT8_uc001omn.3_Missense_Mutation_p.L51M	NM_001243750	NP_001230679	Q8WV74	NUDT8_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 8 (NUDT8), transcript variant 1, mRNA.	51	Nudix hydrolase.					mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						CTGGACCGCAGCGTGTACAGC	0.761000														51			8		3.86212e-05	4.026e-05	1	1	0
PDP1	54704	broad.mit.edu	37	8	94935883	94935883	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94935883G>A	uc011lgn.2	+	1	1822	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	PDP1_uc003ygf.3_Silent_p.A557A|PDP1_uc003yge.3_Silent_p.A532A|PDP1_uc010max.3_Silent_p.A557A|PDP1_uc011lgm.2_Silent_p.A532A|PDP1_uc022ayg.1_Silent_p.A532A	NM_001161778	NP_001155250	Q9P0J1	PDP1_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	532					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						TTGTAGGGGCGTATCAAAACC	0.353000														135			19		0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004545	59004545	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:59004545C>T	uc001cyy.3	-	1	510	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.R141Q|OMA1_uc009vzz.3_Missense_Mutation_p.R141Q	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	141					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					AGCTTGAAACCGTGGAGAAGT	0.393000														143			15		0	0	1	0	0
RNASE11	122651	broad.mit.edu	37	14	21052116	21052116	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21052116C>A	uc010ahw.3	-	2	854	c.518G>T	c.(517-519)aGt>aTt	p.S173I	RNASE11_uc010ahv.3_Missense_Mutation_p.S173I|RNASE11_uc010ahx.3_Missense_Mutation_p.S173I|RNASE11_uc001vxs.3_Missense_Mutation_p.S173I|RNASE11_uc021rnu.1_Missense_Mutation_p.S173I	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	173						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.S173C(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TGAGGTAACACTATGGTATTG	0.448000														86			11		1.08611e-07	1.17606e-07	1	1	0
LMBRD2	92255	broad.mit.edu	37	5	36141208	36141208	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36141208C>T	uc003jkb.1	-	4	783	c.368_splice	c.e4+1	p.W123_splice		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	123						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGTAACTTACCATGTTAAAA	0.313000														57			11		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8390805	8390805	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8390805G>A	uc002glm.3	-	35	5088	c.4992C>T	c.(4990-4992)atC>atT	p.I1664I	MYH10_uc002gll.3_Silent_p.I1633I|MYH10_uc010cnx.3_Silent_p.I1642I	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1633					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCGCAGCCTCGATTTGGGCTT	0.552000														380			102		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9075035	9075035	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9075035G>T	uc002mkp.3	-	2	12615	c.12411C>A	c.(12409-12411)ctC>ctA	p.L4137L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4139	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L4137V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTGCTAAAGAGAGTGGTCT	0.512000														137			16		2.23348e-06	2.37297e-06	1	1	0
EP400	57634	broad.mit.edu	37	12	132528242	132528242	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132528242C>T	uc001ujn.3	+	33	6571	c.6419C>T	c.(6418-6420)tCt>tTt	p.S2140F	EP400_uc021rgq.1_Missense_Mutation_p.S2139F|EP400_uc001ujm.3_Missense_Mutation_p.S2059F	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2176					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTCCATACTTCTATTGAGCAA	0.289000														54			5		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48812972	48812972	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48812972C>T	uc001zwx.2	-	9	1426	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	344	TB 2.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GTTAGAGCAGCGCCCGTTTGT	0.517000														96			16		0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227174321	227174321	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227174321G>A	uc001hqm.1	+	19	5246	c.1827G>A	c.(1825-1827)ctG>ctA	p.L609L	ADCK3_uc001hqn.1_Silent_p.L609L|ADCK3_uc009xeq.1_Silent_p.L557L|ADCK3_uc010pvq.1_Silent_p.L330L|ADCK3_uc010pvr.1_Silent_p.L283L|ADCK3_uc001hqo.1_Silent_p.L330L|ADCK3_uc009xer.1_Silent_p.L125L	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	609					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTACTCCCTGCACAGGAAGA	0.582000														218			36		0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735331	52735331	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52735331C>A	uc001wzq.3	+	0	901	c.799C>A	c.(799-801)Ctg>Atg	p.L267M		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	267						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTCCTGCTGCTGGCGCTGAT	0.687000														391			98		9.27813e-46	1.18244e-45	1	1	0
GHR	2690	broad.mit.edu	37	5	42695175	42695175	+	Missense_Mutation	SNP	C	A	A	rs45501892		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42695175C>A	uc021xxv.1	+	4	581	c.444C>A	c.(442-444)ttC>ttA	p.F148L	GHR_uc003jmt.3_Missense_Mutation_p.F141L|GHR_uc003jmu.3_Missense_Mutation_p.F141L|GHR_uc003jmv.2_Missense_Mutation_p.F141L|GHR_uc021xxw.1_Missense_Mutation_p.F141L|GHR_uc021xxx.1_Missense_Mutation_p.F141L|GHR_uc021xxy.1_Missense_Mutation_p.F141L|GHR_uc021xxz.1_Missense_Mutation_p.F141L|GHR_uc021xya.1_Missense_Mutation_p.F141L|GHR_uc021xyb.1_Missense_Mutation_p.F141L|GHR_uc021xyc.1_Missense_Mutation_p.F141L|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.F119L	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	141					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAAAGTGTTTCTCTGTTGATG	0.358000														37			12		4.36969e-10	4.89342e-10	1	1	0
SEC13	6396	broad.mit.edu	37	3	10354403	10354403	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10354403G>T	uc003bvn.3	-	3	298	c.176C>A	c.(175-177)cCt>cAt	p.P59H	SEC13_uc003bvl.3_5'UTR|SEC13_uc003bvm.3_Missense_Mutation_p.P45H|SEC13_uc003bvp.3_Missense_Mutation_p.P62H|SEC13_uc003bvo.3_Missense_Mutation_p.P105H|SEC13_uc003bvr.1_Missense_Mutation_p.P45H|SEC13_uc011aul.2_Missense_Mutation_p.P59H	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	59					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TTGCCACACAGGACCCTCATG	0.537000														143			35		1.36615e-20	1.66935e-20	1	1	0
DTX1	1840	broad.mit.edu	37	12	113496122	113496122	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496122C>T	uc001tuk.1	+	0	461	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	42	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CCCTACACGGCCACCGTGTGC	0.647000														190			67		0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99489912	99489912	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99489912G>T	uc003usd.3	-	6	1576	c.1377C>A	c.(1375-1377)ttC>ttA	p.F459L	TRIM4_uc003use.3_Missense_Mutation_p.F433L|TRIM4_uc011kjc.2_Missense_Mutation_p.F289L	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	459	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	p.F459S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAGCGCTGTAGAAGGAGACAT	0.537000														294			69		2.41387e-49	3.08031e-49	1	1	0
TMEM41A	90407	broad.mit.edu	37	3	185209335	185209335	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185209335T>G	uc003fpj.2	-	4	881	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	262						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCATGTGTCTTTTCTACTGTG	0.383000														68			20		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039046	80039046	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039046C>T	uc002kdu.3	-	37	6706	c.6589G>A	c.(6589-6591)Gcc>Acc	p.A2197T	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2197					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCACCGCTGGCCTCATCCGCC	0.687000														23			4		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3829351	3829351	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:3829351T>C	uc003zhx.1	-	9	3328	c.2615A>G	c.(2614-2616)gAt>gGt	p.D872G	GLIS3_uc010mhf.1_Missense_Mutation_p.D266G|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.D717G	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	717					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)		GTGGAAAACATCAAAACTGGC	0.537000														77			21		0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1943631	1943631	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943631G>A	uc010vqs.2	+	6	920	c.914G>A	c.(913-915)gGc>gAc	p.G305D	DPH1_uc002fts.3_Missense_Mutation_p.G295D|DPH1_uc002ftt.3_Missense_Mutation_p.G279D|DPH1_uc010cjx.3_Missense_Mutation_p.G155D|DPH1_uc002ftv.3_Missense_Mutation_p.G51D|DPH1_uc002ftw.3_Missense_Mutation_p.G23D|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	295					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CTTATTCTGGGCACTTTGGGC	0.592000														161			16		0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105208312	105208312	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105208312C>T	uc001ypd.3	+	8	995	c.921C>T	c.(919-921)atC>atT	p.I307I	ADSSL1_uc001ype.3_Silent_p.I350I|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	307					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GTGTGGGCATCGGGGCCTTCC	0.682000														291			63		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297040	18297040	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297040G>A	uc010zrv.1	+	4	1757	c.1554G>A	c.(1552-1554)acG>acA	p.T518T	ZNF133_uc010gcq.2_Silent_p.T515T|ZNF133_uc010zrw.1_Silent_p.T452T|ZNF133_uc010gcr.2_Silent_p.T515T|ZNF133_uc010zrx.1_Silent_p.T420T|ZNF133_uc002wql.4_Silent_p.T514T|ZNF133_uc010gcs.3_Silent_p.T514T|ZNF133_uc010zry.2_Silent_p.T420T|ZNF133_uc002wqm.2_Silent_p.T515T	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	515						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						ACCAGAGGACGCACTCAGGGG	0.622000														161			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64692087	64692087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64692087G>A	uc001xgl.3	+	115	20797	c.20567G>A	c.(20566-20568)cGg>cAg	p.R6856Q	SYNE2_uc001xgm.3_Missense_Mutation_p.R6834Q|SYNE2_uc010apy.3_Missense_Mutation_p.R3219Q|SYNE2_uc001xgn.3_Missense_Mutation_p.R1795Q|SYNE2_uc021rui.1_Silent_p.P1799P|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.R804Q|SYNE2_uc001xgq.3_Missense_Mutation_p.R1213Q|SYNE2_uc001xgr.3_Missense_Mutation_p.R617Q|SYNE2_uc010tsi.2_Missense_Mutation_p.R491Q|SYNE2_uc001xgs.3_Missense_Mutation_p.R505Q|SYNE2_uc001xgt.3_Missense_Mutation_p.R378Q	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6834	KASH.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGGTGGTCCGGGCAGCCCTA	0.647000														90			26		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18209204	18209204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18209204C>T	uc004cyj.4	-	7	1359	c.1205G>A	c.(1204-1206)gGg>gAg	p.G402E	BEND2_uc010nfb.2_Missense_Mutation_p.G311E	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	402										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ACTCATTGTCCCATAACTCAT	0.368000														87			13		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995928	144995928	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995928G>A	uc003zaf.1	-	31	8642	c.8472C>T	c.(8470-8472)gaC>gaT	p.D2824D	PLEC_uc003zab.1_Silent_p.D2687D|PLEC_uc003zac.1_Silent_p.D2691D|PLEC_uc003zad.2_Silent_p.D2687D|PLEC_uc003zae.1_Silent_p.D2655D|PLEC_uc003zag.1_Silent_p.D2665D|PLEC_uc003zah.2_Silent_p.D2673D|PLEC_uc003zaj.2_Silent_p.D2714D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2824	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGTGGCGCACGTCTTCCCGCC	0.667000														157			35		0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32212784	32212784	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32212784C>A	uc002wzg.1	+	6	1471	c.934C>A	c.(934-936)Cta>Ata	p.L312I	CBFA2T2_uc010zug.1_Missense_Mutation_p.L86I|CBFA2T2_uc002wze.1_Missense_Mutation_p.L303I|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.L283I|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	312						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAACAAGATGCTAGAGCATCG	0.473000														95			29		2.61193e-14	3.06651e-14	1	1	0
ATXN10	25814	broad.mit.edu	37	22	46125440	46125440	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46125440G>A	uc003bgm.2	+	6	1130	c.864G>A	c.(862-864)aaG>aaA	p.K288K	ATXN10_uc011aqt.2_Silent_p.K224K|ATXN10_uc003bgn.2_Silent_p.K99K	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	288					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CTGTGCTCAAGCTGGCCTCTG	0.502000														133			27		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176795177	176795177	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176795177C>T	uc003mgh.3	+	7	941	c.759C>T	c.(757-759)aaC>aaT	p.N253N	RGS14_uc003mgf.3_Silent_p.N253N|RGS14_uc003mgg.1_Silent_p.N100N|RGS14_uc003mgi.3_Silent_p.N23N	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	253					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity	p.A252V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACTGCAAACGCCGCCTTGC	0.647000														113			32		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403774	179403774	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403774A>C	uc021vsy.1	-	301	91409	c.91184T>G	c.(91183-91185)gTt>gGt	p.V30395G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V24090G|TTN_uc021vta.1_Missense_Mutation_p.V24023G|TTN_uc021vtb.1_Missense_Mutation_p.V23898G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31322	Ig-like 137.						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)			AGCATCGGGAACAAGCCCTGT	0.488000														105			8		0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43420813	43420813	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43420813C>A	uc003ova.3	-	3	410	c.201G>T	c.(199-201)caG>caT	p.Q67H	DLK2_uc003ovb.3_Missense_Mutation_p.Q67H	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	67	EGF-like 2.					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGTACCGTGCTGGCAGCCAG	0.632000														92			23		3.8784e-16	4.61393e-16	1	1	0
SPATA5	166378	broad.mit.edu	37	4	123855775	123855775	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123855775G>T	uc003iez.4	+	4	1102	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D	SPATA5_uc003iey.3_Missense_Mutation_p.E342D	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	343					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						ATTCAAAAGAGCAAGACAACC	0.328000														50			18		6.94344e-10	7.75807e-10	1	1	0
ZNF862	643641	broad.mit.edu	37	7	149559356	149559356	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559356C>T	uc010lpn.3	+	6	3299	c.3107C>T	c.(3106-3108)aCc>aTc	p.T1036I		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	1036					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CCCATCTCCACCTCTTGCTGT	0.587000														69			16		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609533	108609533	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108609533C>T	uc002tdv.3	+	3	674	c.398C>T	c.(397-399)cCt>cTt	p.P133L	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.P133L|SLC5A7_uc010ywn.2_Missense_Mutation_p.P20L	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	133					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTGTTTATTCCTGCACTGATG	0.443000														102			22		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92347762	92347762	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92347762T>G	uc010aue.3	-	10	1459	c.986_splice	c.e10-1	p.D329_splice	FBLN5_uc010aud.3_Splice_Site_p.D293_splice|FBLN5_uc001xzx.4_Splice_Site_p.D288_splice	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	288	EGF-like 6; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTCGTTGATGTCTGAAATGCA	0.542000														126			27		0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349755	26349755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349755G>A	uc001blf.3	+	0	1485	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCCCACCCGTTGCGAGGTG	0.687000														50			21		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171173107	171173107	+	Missense_Mutation	SNP	G	A	A	rs144453751		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171173107G>A	uc001ghk.1	+	5	848	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FMO2_uc010pmd.1_Missense_Mutation_p.R24H	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	244					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTATGCTCCGCAATGTACTG	0.473000														66			25		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9745927	9745927	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9745927G>T	uc002gmd.1	+	3	498	c.498G>T	c.(496-498)aaG>aaT	p.K166N	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	166					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACAGCTTCAAGCAAAACGTGA	0.577000														76			25		1.64293e-13	1.91604e-13	1	1	0
CACNA2D1	781	broad.mit.edu	37	7	81603842	81603842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81603842G>A	uc003uhr.1	-	24	2238	c.1982C>T	c.(1981-1983)tCg>tTg	p.S661L		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	673						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTTATTATCCGATATTTTCAG	0.269000														23			6		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141665573	141665573	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141665573A>G	uc002tvj.1	-	21	4365	c.3393T>C	c.(3391-3393)tgT>tgC	p.C1131C	LRP1B_uc010fnl.1_Silent_p.C313C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1131	LDL-receptor class A 9.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AGAAACTGTCACAGTCATCTT	0.448000										TSP Lung(27;0.18)				86			45		0	0	1	0	0
OPN1SW	611	broad.mit.edu	37	7	128415770	128415770	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128415770C>A	uc003vnt.4	-	0	75	c.75G>T	c.(73-75)caG>caT	p.Q25H		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	25					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAATGTGGTACTGAGGCCCAT	0.537000														152			33		3.11337e-16	3.70767e-16	1	1	0
RNF123	63891	broad.mit.edu	37	3	49742976	49742976	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49742976G>T	uc003cxh.3	+	23	2254	c.2168G>T	c.(2167-2169)aGc>aTc	p.S723I	RNF123_uc010hky.1_Missense_Mutation_p.S385I|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	723						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)		GTTGAAGGCAGCCACTGGAAT	0.642000														90			21		2.32416e-17	2.78873e-17	1	1	0
SYTL2	54843	broad.mit.edu	37	11	85445199	85445199	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85445199C>T	uc010rth.2	-	5	1559	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	SYTL2_uc010rtg.2_Silent_p.S391S|SYTL2_uc010rti.2_Silent_p.S390S|SYTL2_uc010rtj.2_Silent_p.S342S|SYTL2_uc001pbf.4_Silent_p.S390S|SYTL2_uc010rtf.2_Silent_p.S248S	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398000														132			31		0	0	1	0	0
OR51D1	390038	broad.mit.edu	37	11	4661117	4661117	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661117G>T	uc010qyk.2	+	0	173	c.97G>T	c.(97-99)Ggg>Tgg	p.G33W		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCTGGCCTGGGGCCTACCAT	0.512000														166			36		3.6622e-26	4.57344e-26	1	1	0
CNTN1	1272	broad.mit.edu	37	12	41333262	41333262	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41333262A>G	uc001rmm.1	+	11	1467	c.1354A>G	c.(1354-1356)Aca>Gca	p.T452A	CNTN1_uc009zjy.2_Missense_Mutation_p.T452A|CNTN1_uc001rmn.1_Missense_Mutation_p.T441A|CNTN1_uc001rmo.3_Missense_Mutation_p.T452A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	452	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.G451W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GAGTAAAGGGACAGAGTGGCT	0.378000														46			12		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90438204	90438204	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90438204C>T	uc001kfg.2	+	9	1077	c.963C>T	c.(961-963)tcC>tcT	p.S321S	LIPF_uc001kfh.2_Silent_p.S298S|LIPF_uc010qmt.2_Silent_p.S331S|LIPF_uc010qmu.2_Silent_p.S288S	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	321					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		TTTTCTAGTCCCAACCTCCCT	0.443000														245			10		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19175848	19175848	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19175848G>A	uc001bba.1	-	3	1455	c.1454C>T	c.(1453-1455)aCc>aTc	p.T485I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	485					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTTGTTGATGGTGTGCCAGGA	0.637000														133			8		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242155543	242155543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242155543G>A	uc002wax.2	+	18	2127	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	675						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TTCCGGCTTCGCTCCAAGAAG	0.577000														158			29		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146678707	146678707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146678707C>T	uc010khw.1	+	5	1949	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	GRM1_uc010khv.1_Silent_p.D493D|GRM1_uc003qll.2_Silent_p.D493D|GRM1_uc011edz.1_Silent_p.D493D|GRM1_uc011eea.1_Silent_p.D493D	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	493					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ATCGCTATGACTATGTGCACG	0.413000														123			25		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113266921	113266921	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113266921C>T	uc001pny.3	+	4	909	c.815C>T	c.(814-816)cCc>cTc	p.P272L		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACCAGGACCCCAAGAAGAGG	0.647000														225			30		0	0	1	0	0
HAO1	54363	broad.mit.edu	37	20	7886939	7886939	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:7886939G>A	uc002wmw.1	-	3	607	c.583C>T	c.(583-585)Cct>Tct	p.P195S	HAO1_uc010gbu.3_Missense_Mutation_p.P195S	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	195	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TTTTCCTCAGGAGAAAATGAT	0.348000														62			16		0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816459	14816459	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14816459G>A	uc001ina.1	-	0	438	c.204C>T	c.(202-204)agC>agT	p.S68S	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0								p.S68N(1)		breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTCCTTCTGCGCTTGGGTGTC	0.582000														307			81		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107743565	107743565	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107743565C>T	uc010ljo.1	-	9	1188	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	LAMB4_uc003vey.2_Silent_p.G368G	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	368	Laminin EGF-like 2.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CGCAGTGCTGCCCCTCAGTGT	0.612000														57			17		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57876529	57876529	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57876529G>A	uc003hcl.1	+	10	1450	c.1407G>A	c.(1405-1407)gtG>gtA	p.V469V	POLR2B_uc011cae.1_Silent_p.V462V|POLR2B_uc011caf.1_Silent_p.V394V|POLR2B_uc003hcm.1_5'UTR	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	469					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTTTCTAGGTGTTAAACCGCC	0.373000														220			12		0	0	1	0	0
DTX4	23220	broad.mit.edu	37	11	58949753	58949753	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58949753G>A	uc001nns.2	+	1	1010	c.753G>A	c.(751-753)aaG>aaA	p.K251K	DTX4_uc001nnr.2_Silent_p.K145K	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	251					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCCACTGAAGACCGCCCCAT	0.642000														55			13		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11596299	11596299	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11596299C>T	uc003bwc.3	+	18	2211	c.2094C>T	c.(2092-2094)agC>agT	p.S698S	ATG7_uc003bwd.3_Silent_p.S671S|ATG7_uc011aum.2_Silent_p.S618S	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	698					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GGGACATGAGCGATGATGAGA	0.627000														78			14		0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41596450	41596450	+	Missense_Mutation	SNP	C	T	T	rs144283445		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41596450C>T	uc002opt.3	+	3	644	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	212					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	TTCCAGTTCACGGCAACCTCC	0.572000														194			33		0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41223914	41223914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41223914C>T	uc001cge.3	+	4	517	c.509C>T	c.(508-510)aCg>aTg	p.T170M	NFYC_uc010ojm.1_Missense_Mutation_p.T76M|NFYC_uc001cfx.4_Missense_Mutation_p.T170M|NFYC_uc009vwd.3_Missense_Mutation_p.T170M|NFYC_uc001cfz.3_Missense_Mutation_p.T170M|NFYC_uc010ojn.2_Missense_Mutation_p.T132M|NFYC_uc001cfy.4_Missense_Mutation_p.T170M|NFYC_uc001cgc.3_Missense_Mutation_p.T170M|NFYC_uc001cgb.3_Missense_Mutation_p.T170M	NM_001142588	NP_001136060	Q13952	NFYC_HUMAN	Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA.	170					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ACCAGCTCCACGACCACCATC	0.617000														89			6		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216019173	216019173	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216019173G>A	uc001hku.1	-	44	9435	c.9048C>T	c.(9046-9048)tgC>tgT	p.C3016C		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3016					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.C3016C(2)		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)		CACCCCCATCGCAAGTGGTTG	0.448000										HNSCC(13;0.011)				75			8		0	0	1	0	0
KCNJ13	3769	broad.mit.edu	37	2	233635952	233635952	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233635952G>A	uc002vto.3	-	0	164	c.121C>T	c.(121-123)Ctt>Ttt	p.L41F	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_Missense_Mutation_p.L41F|KCNJ13_uc002vtp.3_Missense_Mutation_p.L41F|KCNJ13_uc021vyk.1_Intron	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	41						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		GCATCTCGAAGATATGCAAGA	0.483000														109			32		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518231	41518231	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41518231G>A	uc002opr.1	+	6	1000	c.993G>A	c.(991-993)gtG>gtA	p.V331V	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.V131V	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	331					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)	TTGAACAGGTGATTGGCCCAC	0.483000														74			22		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10192541	10192541	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10192541C>A	uc002raf.1	+	3	1608	c.1446C>A	c.(1444-1446)atC>atA	p.I482I	KLF11_uc021vdq.1_Silent_p.I465I|KLF11_uc010yjc.2_Silent_p.I465I	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	482					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		CCAAGAAGATCCCAGGCTGGC	0.612000														90			37		1.36161e-19	1.65525e-19	1	1	0
OCIAD1	54940	broad.mit.edu	37	4	48850458	48850458	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48850458T>G	uc010igk.3	+	4	467	c.251T>G	c.(250-252)cTt>cGt	p.L84R	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.L79R|OCIAD1_uc003gyq.3_Missense_Mutation_p.L79R|OCIAD1_uc003gyp.3_Missense_Mutation_p.L79R|OCIAD1_uc003gyr.3_Missense_Mutation_p.L79R|OCIAD1_uc021xoc.1_Missense_Mutation_p.L79R	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	79	OCIA.					endosome	protein binding	p.C83C(1)		breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ATCCCTAAACTTATACGTAAG	0.259000														27			9		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640559	34640559	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640559G>T	uc010ucc.2	+	2	872	c.490G>T	c.(490-492)Gca>Tca	p.A164S	C15orf55_uc010ucd.2_Missense_Mutation_p.A154S|C15orf55_uc001zif.3_Missense_Mutation_p.A136S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	136	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		ATTTGTGACAGCATCTAATGT	0.557000			T	"""BRD3, BRD4"""	lethal midline carcinoma									117			18		3.32936e-07	3.57961e-07	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167863127	167863127	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167863127G>T	uc001ger.3	-	7	1090	c.792C>A	c.(790-792)tcC>tcA	p.S264S	ADCY10_uc010plj.2_Silent_p.S111S|ADCY10_uc009wvk.3_Silent_p.S172S|ADCY10_uc009wvl.3_Silent_p.S263S|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	264					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTGTAGGGACATCTCCA	0.468000														58			11		6.40141e-05	6.6609e-05	1	1	0
RNF31	55072	broad.mit.edu	37	14	24619877	24619877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619877C>T	uc001wmn.1	+	7	1517	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	RNF31_uc001wml.1_Missense_Mutation_p.S272L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.S238L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	423	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		TTCTGCAACTCGAGCCCTGGC	0.557000														326			28		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135615146	135615146	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135615146A>C	uc003yup.3	-	5	1002	c.816T>G	c.(814-816)acT>acG	p.T272T	ZFAT_uc003yun.3_Silent_p.T260T|ZFAT_uc003yuo.3_Silent_p.T260T|ZFAT_uc010meh.3_Silent_p.T260T|ZFAT_uc010mej.3_Silent_p.T210T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T260T|ZFAT_uc003yur.3_Silent_p.T260T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGTATTCACAAGTGAAGATTT	0.478000														122			30		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43342961	43342961	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43342961A>C	uc010rfh.1	+	4	499	c.326_splice	c.e4-1	p.D109_splice	API5_uc001mxf.2_Splice_Site_p.D109_splice|API5_uc010rfg.1_Splice_Site_p.D98_splice|API5_uc010rfi.1_Splice_Site_p.D55_splice|API5_uc021qgi.1_Splice_Site_p.D109_splice|API5_uc001mxg.3_Splice_Site	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	109					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CTTTATCCAGATGACTCTGCA	0.303000														47			11		0	0	1	0	0
CCDC47	57003	broad.mit.edu	37	17	61838630	61838630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61838630G>A	uc002jbs.4	-	4	965	c.629C>T	c.(628-630)tCt>tTt	p.S210F	CCDC47_uc010ddx.3_Missense_Mutation_p.S210F|CCDC47_uc002jbt.2_Missense_Mutation_p.S210F	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	210						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CACTCGACCAGAACACCACAG	0.438000														260			64		0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45821219	45821219	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821219G>T	uc002pbd.3	-	2	385	c.212C>A	c.(211-213)aCc>aAc	p.T71N		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	71	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCAGCCCACGGTCATGATGAA	0.602000														71			10		2.27111e-07	2.44751e-07	1	1	0
RSPO1	284654	broad.mit.edu	37	1	38082217	38082217	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38082217G>A	uc001cbl.2	-	4	1117	c.225C>T	c.(223-225)tgC>tgT	p.C75C	RSPO1_uc009vvf.2_Silent_p.C48C|RSPO1_uc001cbm.2_Silent_p.C75C|RSPO1_uc009vvg.2_Silent_p.C75C	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	75					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGACGGCAAGCAGACGCCCA	0.612000														157			23		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51502943	51502943	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51502943C>A	uc001rxw.3	-	5	1399	c.678G>T	c.(676-678)gaG>gaT	p.E226D	TFCP2_uc001rxv.2_Missense_Mutation_p.E226D|TFCP2_uc009zlx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.E128D	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	226	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGTGTAAGTGCTCAGTATATT	0.433000														136			23		9.57634e-11	1.08211e-10	1	1	0
ANKRD34A	284615	broad.mit.edu	37	1	145474082	145474082	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145474082C>A	uc021ouy.1	+	0	754	c.754C>A	c.(754-756)Cta>Ata	p.L252I	ANKRD34A_uc001enq.1_Missense_Mutation_p.L252I	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	252	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGGGCCTAGTGGCCCC	0.642000														266			41		4.0492e-12	4.65414e-12	1	1	0
CFB	629	broad.mit.edu	37	6	31905129	31905129	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31905129C>T	uc011dor.2	+	4	827	c.563C>T	c.(562-564)gCg>gTg	p.A188V	CFB_uc003nyc.2_Missense_Mutation_p.A128V|CFB_uc011doo.2_Missense_Mutation_p.A95V|CFB_uc011dop.2_Missense_Mutation_p.A127V|CFB_uc003nyf.3_Missense_Mutation_p.A341V|CFB_uc010jtk.3_Missense_Mutation_p.A209V|CFB_uc011doq.2_Missense_Mutation_p.A312V|CFB_uc003nyh.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	357	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AACACCTATGCGGCCTTAAAC	0.478000														176			40		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216249593	216249593	+	Silent	SNP	G	A	A	rs147150819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216249593G>A	uc002vfa.3	-	28	4985	c.4719C>T	c.(4717-4719)taC>taT	p.Y1573Y	FN1_uc002vfc.3_Silent_p.Y1482Y|FN1_uc002vfe.3_Silent_p.Y1482Y|FN1_uc002vff.3_Silent_p.Y1482Y|FN1_uc002vfg.3_Silent_p.Y1482Y|FN1_uc002vfh.3_Silent_p.Y1482Y|FN1_uc002vfi.3_Silent_p.Y1573Y|FN1_uc002vfj.3_Silent_p.Y1573Y|FN1_uc002vfb.3_Silent_p.Y1482Y|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Silent_p.Y200Y|FN1_uc010fvc.1_5'Flank|FN1_uc010fvd.1_5'Flank	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1576	Fibronectin type-III 11.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGTCTCTCCGTAAGTGATCC	0.453000														109			15		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40947651	40947651	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40947651C>T	uc002ibj.3	+	15	3099	c.3031C>T	c.(3031-3033)Ccg>Tcg	p.P1011S	WNK4_uc010wgx.2_Missense_Mutation_p.P675S|CCDC56_uc010wgz.1_3'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	1011					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGAGGGAAAGCCGCAGCTTGT	0.557000														136			40		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135103451	135103451	+	Missense_Mutation	SNP	C	T	T	rs145657678		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135103451C>T	uc010qvc.1	-	9	1678	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K	TUBGCP2_uc001lmf.1_Missense_Mutation_p.E6K|TUBGCP2_uc001lmg.1_Missense_Mutation_p.E413K|TUBGCP2_uc010qvd.1_Missense_Mutation_p.E283K|TUBGCP2_uc009ybk.1_Missense_Mutation_p.E413K|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	413					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding	p.P440P(1)		breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TTCCGCAGCTCGTGCTCCTCG	0.582000														107			29		0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118475773	118475773	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118475773C>T	uc003pxx.4	+	1	540	c.339C>T	c.(337-339)gcC>gcT	p.A113A		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	113					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCACACTAGCCGTCAGACAAG	0.408000														168			47		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247439	56247439	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247439G>T	uc010wnp.2	+	0	423	c.423G>T	c.(421-423)tgG>tgT	p.W141C		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTCAGCTCTGGGTGGGGCTGG	0.592000														211			43		5.20006e-24	6.45208e-24	1	1	0
POM121	9883	broad.mit.edu	37	7	72413671	72413671	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413671T>G	uc003twk.2	+	10	3139	c.3139T>G	c.(3139-3141)Ttc>Gtc	p.F1047V	POM121_uc003twj.3_Missense_Mutation_p.F782V|POM121_uc010lam.1_Missense_Mutation_p.F782V	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	1047	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)				GGCTTCGGCCTTCGGCGCTCC	0.647000														211			34		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619930	7619930	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7619930G>T	uc010xjq.2	+	23	3056	c.2816G>T	c.(2815-2817)cGc>cTc	p.R939L	PNPLA6_uc002mgq.2_Missense_Mutation_p.R891L|PNPLA6_uc010xjp.2_Missense_Mutation_p.R864L|PNPLA6_uc002mgr.2_Missense_Mutation_p.R891L|PNPLA6_uc002mgs.3_Missense_Mutation_p.R929L	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	930					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTCCGCGCCGCCTCTTTTCG	0.726000														38			4		0.150653	0.151008	1	1	0
IER5L	389792	broad.mit.edu	37	9	131940297	131940297	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131940297C>A	uc010myt.1	-	0	244	c.35G>T	c.(34-36)aGc>aTc	p.S12I		NM_203434	NP_982258	Q5T953	IER5L_HUMAN	Homo sapiens immediate early response 5-like (IER5L), mRNA.	12													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGGGAGATGCTGATCAGGCT	0.667000														21			7		2.7689e-08	3.02839e-08	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123598907	123598907	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123598907G>A	uc001pzd.1	-	6	1166	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF202_uc001pzc.1_Missense_Mutation_p.P32S|ZNF202_uc001pze.1_Missense_Mutation_p.P256S|ZNF202_uc001pzf.1_Missense_Mutation_p.P256S	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	256	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TTCTGTGTTGGGTCCAGATCA	0.428000														121			28		0	0	1	0	0
WDR6	11180	broad.mit.edu	37	3	49049361	49049361	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49049361G>T	uc003cvj.2	+	1	622	c.484G>T	c.(484-486)Gcc>Tcc	p.A162S	WDR6_uc011bbx.1_Intron|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.A106S|WDR6_uc011bbz.1_Missense_Mutation_p.A81S	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	132					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		TATAGCCTTGGCCCTGGGCCA	0.582000														137			27		1.42536e-11	1.62618e-11	1	1	0
NCKAP5L	57701	broad.mit.edu	37	12	50195630	50195630	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50195630C>T	uc009zlk.2	-	6	553	c.351_splice	c.e6+1	p.Q117_splice		NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	113	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CAGATGCCTACCTGAGGGAGC	0.592000														123			20		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444451	50444451	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444451C>T	uc003tow.4	+	3	536	c.381C>T	c.(379-381)atC>atT	p.I127I	IKZF1_uc022acq.1_Silent_p.I127I|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Silent_p.I127I|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Silent_p.I127I|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Silent_p.I127I|IKZF1_uc003toz.4_Silent_p.I97I|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	127					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCATTTGCATCGGGCCCAATG	0.517000			"""D,T"""	BCL6	"""ALL, DLBCL"""									67			17		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878211	5878211	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5878211T>C	uc010qzr.2	-	0	722	c.722A>G	c.(721-723)aAa>aGa	p.K241R	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGAGAGCTTTGAGTCGAGC	0.413000														111			20		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239306131	239306131	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239306131A>C	uc002vye.3	+	15	1840	c.1721A>C	c.(1720-1722)aAg>aCg	p.K574T	TRAF3IP1_uc002vyf.3_Missense_Mutation_p.K508T	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	574	DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GCATGGAAGAAGGAGAAGGAC	0.552000														143			41		0	0	1	0	0
SECISBP2	79048	broad.mit.edu	37	9	91972418	91972418	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91972418C>T	uc004aqj.1	+	14	2286	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	SECISBP2_uc010mqo.1_Missense_Mutation_p.R441C|SECISBP2_uc004aqk.1_Missense_Mutation_p.R663C|SECISBP2_uc011ltk.1_Missense_Mutation_p.R735C|SECISBP2_uc011ltl.1_Missense_Mutation_p.R668C	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	736					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGCTCTGGGGCGCAGTTTGAA	0.527000														304			85		0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020891	73020891	+	Missense_Mutation	SNP	A	T	T	rs149459553		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73020891A>T	uc001otu.3	+	0	1229	c.1208A>T	c.(1207-1209)gAc>gTc	p.D403V		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	403					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGGACGACGACCTATGGTCT	0.657000														142			30		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32875113	32875113	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875113T>C	uc003amq.3	+	1	551	c.268T>C	c.(268-270)Tcc>Ccc	p.S90P	FBXO7_uc003amp.1_Intron|FBXO7_uc003amt.3_Intron|FBXO7_uc003amu.3_5'UTR	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	90					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TATACCTTCATCCACAGATTC	0.443000														213			53		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193171892	193171892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193171892C>T	uc003ftd.3	-	16	2133	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	ATP13A4_uc003fte.1_Silent_p.T675T|ATP13A4_uc011bsr.1_Silent_p.T146T|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	675					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CCATTTACCTCGTCAAGGTAG	0.448000														75			14		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138576683	138576683	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138576683C>T	uc003qhu.3	+	9	1052	c.881C>T	c.(880-882)gCg>gTg	p.A294V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	294					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCGGACTCTGCGTCTCCGGGA	0.597000														167			33		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52256063	52256063	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52256063C>T	uc003ddb.3	-	4	2770	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	TLR9_uc003dda.2_Missense_Mutation_p.V757I	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	757					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TTGGCGCTTACATCTAGTATT	0.637000														193			28		0	0	1	0	0
ISYNA1	51477	broad.mit.edu	37	19	18547207	18547207	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18547207G>A	uc002njd.2	-	5	910	c.692C>T	c.(691-693)aCg>aTg	p.T231M	ISYNA1_uc002nja.2_Missense_Mutation_p.T103M|ISYNA1_uc002njb.2_Missense_Mutation_p.T149M|ISYNA1_uc002njc.2_Missense_Mutation_p.T81M|ISYNA1_uc010xqh.2_Missense_Mutation_p.T29M|ISYNA1_uc002nje.2_Missense_Mutation_p.T177M	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	231					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GAAGCGCTCCGTGTTCGCCGT	0.627000														225			45		0	0	1	0	0
C16orf79	283870	broad.mit.edu	37	16	2259423	2259423	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2259423G>A	uc010bsh.3	-	4	958	c.723C>T	c.(721-723)atC>atT	p.I241I	C16orf79_uc002cpi.2_Silent_p.I209I	NM_182563	NP_872369	Q6PL45	CP079_HUMAN	Homo sapiens chromosome 16 open reading frame 79 (C16orf79), mRNA.	241						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						AGCAGATGTCGATGCAGAGAT	0.632000														187			23		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22887129	22887129	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22887129C>T	uc003xcu.2	-	3	763	c.470G>A	c.(469-471)cGc>cAc	p.R157H	TNFRSF10B_uc003xcs.1_5'Flank|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.R6H|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.R55H|TNFRSF10B_uc003xct.2_Missense_Mutation_p.R157H	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	157					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		TCACCCTGTGCGGCACTTCCG	0.592000														38			5		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62594982	62594982	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62594982G>A	uc002yhl.1	-	9	1741	c.1687C>T	c.(1687-1689)Cac>Tac	p.H563Y		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGCACTGTGCTCGGCCATA	0.622000														201			12		0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237076320	237076320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076320C>T	uc002vvw.1	-	0	333	c.295G>A	c.(295-297)Gcg>Acg	p.A99T	GBX2_uc010zng.1_Missense_Mutation_p.A89T	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	99				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GAGGTGAGCGCCATGCCCTGC	0.746000														59			11		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103199	38103199	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38103199G>A	uc002ogq.3	+	4	1385	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	LOC100507433_uc002ogu.3_Missense_Mutation_p.G340R|LOC100507433_uc010efq.3_Missense_Mutation_p.G308R	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		TAGTGTATGCGGACAACTTAC	0.353000														57			13		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837727	12837727	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837727G>T	uc001aui.3	+	2	1464	c.1437G>T	c.(1435-1437)caG>caT	p.Q479H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCTGTCAGGGTGGATTTA	0.502000														167			9		0.00448238	0.00455828	1	1	0
MTSS1L	92154	broad.mit.edu	37	16	70698336	70698336	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70698336G>T	uc002ezj.3	-	14	1748	c.1488C>A	c.(1486-1488)tgC>tgA	p.C496*		NM_138383	NP_612392	Q765P7	MTSSL_HUMAN	Homo sapiens metastasis suppressor 1-like (MTSS1L), mRNA.	496					filopodium assembly|signal transduction		SH3 domain binding|actin binding|cytoskeletal adaptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCACGGAGTAGCAGTCGTAGT	0.672000														41			13		0.00136819	0.00139829	1	1	0
ZNF660	285349	broad.mit.edu	37	3	44635870	44635870	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44635870G>T	uc003cnl.1	+	2	518	c.185G>T	c.(184-186)aGt>aTt	p.S62I	ZNF660_uc021wwp.1_Missense_Mutation_p.S62I	NM_173658	NP_775929	Q6AZW8	ZN660_HUMAN	Homo sapiens zinc finger protein 660 (ZNF660), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S62R(1)		large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TTTAGTCAGAGTGCAAACCTC	0.438000														60			10		3.07112e-06	3.25591e-06	1	1	0
C3orf64	285203	broad.mit.edu	37	3	69027535	69027535	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69027535G>A	uc003dnl.3	-	16	1791	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	C3orf64_uc003dnj.3_Silent_p.G141G|C3orf64_uc003dnk.3_Silent_p.G378G|C3orf64_uc011bfw.2_Non-coding_Transcript	NM_173654	NP_775925	Q5NDL2	AER61_HUMAN	Homo sapiens chromosome 3 open reading frame 64 (C3orf64), mRNA.	462						extracellular region	transferase activity, transferring glycosyl groups			NS(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.126)		BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216)		TGTAGTGAACGCCTCTCAGCC	0.418000														112			47		0	0	1	0	0
TIGD6	81789	broad.mit.edu	37	5	149374485	149374485	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149374485A>C	uc003lri.3	-	1	2189	c.1427T>G	c.(1426-1428)cTt>cGt	p.L476R	TIGD6_uc003lrj.3_Missense_Mutation_p.L476R|TIGD6_uc021yft.1_Missense_Mutation_p.L476R	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	476					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAACTGTCTAAGTTTCTGTAC	0.388000														103			22		0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105258975	105258975	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105258975G>A	uc001ypk.3	-	1	560	c.6C>T	c.(4-6)agC>agT	p.S2S	AKT1_uc001ypl.3_Silent_p.S2S|AKT1_uc010axa.3_Silent_p.S2S|AKT1_uc001ypm.3_Silent_p.S2S|AKT1_uc001ypn.3_Silent_p.S2S	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	2					G-protein coupled receptor protein signaling pathway|T cell costimulation|activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to UV-A|response to fluid shear stress|response to heat	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TAGCCACGTCGCTCATGGTGC	0.672000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""									281			23		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195487809	195487809	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195487809C>T	uc021xjp.1	-	15	14950	c.14794G>A	c.(14794-14796)Gga>Aga	p.G4932R	MUC4_uc003fuz.3_Missense_Mutation_p.G530R|MUC4_uc003fva.3_Missense_Mutation_p.G412R|MUC4_uc003fvb.3_Missense_Mutation_p.G448R|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G448R|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G441R|MUC4_uc021xjn.1_Missense_Mutation_p.G621R|MUC4_uc021xjo.1_Missense_Mutation_p.G412R|MUC4_uc021xjg.1_Missense_Mutation_p.G412R|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G496R|MUC4_uc021xjj.1_Missense_Mutation_p.G496R|MUC4_uc021xjk.1_Missense_Mutation_p.G673R|MUC4_uc021xjl.1_Missense_Mutation_p.G412R|MUC4_uc003fvo.3_Missense_Mutation_p.G696R|MUC4_uc003fvp.3_Missense_Mutation_p.G645R	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1689					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTGAAGTCCGATGCTTGCG	0.552000														159			40		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135025297	135025297	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135025297G>A	uc001llz.1	+	22	4172	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGGAGGCCGAGGAGGATGC	0.672000														81			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237244	140237244	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237244C>T	uc003lhx.2	+	0	1611	c.1611C>T	c.(1609-1611)cgC>cgT	p.R537R	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_uc011dad.2_Silent_p.R537R	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGATGGGGGCG	0.682000														339			69		0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153927748	153927748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153927748C>T	uc004fmk.1	-	5	1214	c.1166G>A	c.(1165-1167)aGt>aAt	p.S389N	GAB3_uc004fmj.1_Missense_Mutation_p.S388N|GAB3_uc010nve.1_Missense_Mutation_p.S389N|GAB3_uc004fml.1_Missense_Mutation_p.S8N	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	388										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCTTCGATACTGGCTGAAGC	0.532000														139			28		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	527709	527709	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:527709T>C	uc003gak.4	+	11	2810	c.2674T>C	c.(2674-2676)Tac>Cac	p.Y892H	PIGG_uc003gaj.4_Missense_Mutation_p.Y884H|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.Y759H|PIGG_uc003gal.4_Missense_Mutation_p.Y803H	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	892					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						GTTTGGGACGTACGCAGGGCC	0.607000														136			24		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92135622	92135622	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92135622T>C	uc003uly.3	-	10	1936	c.1840A>G	c.(1840-1842)Aaa>Gaa	p.K614E	PEX1_uc011khr.2_Missense_Mutation_p.K406E|PEX1_uc010ley.3_Missense_Mutation_p.K614E|PEX1_uc011khs.2_Missense_Mutation_p.K292E|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	614					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATGCTTCTTTACAGATTGCT	0.353000														106			37		0	0	1	0	0
UBXN10	127733	broad.mit.edu	37	1	20517570	20517570	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20517570G>T	uc001bdb.3	+	1	600	c.516G>T	c.(514-516)agG>agT	p.R172S	UBXN10_uc021oia.1_Missense_Mutation_p.R172S	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	172										endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CCGTGGAGAGGAAATTCATCG	0.522000														118			14		1.05317e-09	1.17384e-09	1	1	0
GABRR3	200959	broad.mit.edu	37	3	97720488	97720488	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97720488C>T	uc021xbo.1	-	7		c.995G>A			GABRR3_uc021xbp.1_Non-coding_Transcript	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						AACAGCTCTTCGGTCAATCCA	0.403000														57			12		0	0	1	0	0
PRMT6	55170	broad.mit.edu	37	1	107599623	107599623	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107599623C>A	uc010ous.2	+	0	357	c.286C>A	c.(286-288)Ctg>Atg	p.L96M		NM_018137	NP_060607	Q96LA8	ANM6_HUMAN	Homo sapiens protein arginine methyltransferase 6 (PRMT6), mRNA.	96					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.E96Q(1)		biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CACCGGCATTCTGAGCATCTT	0.692000														110			37		6.90743e-12	7.92012e-12	1	1	0
ZNF337	26152	broad.mit.edu	37	20	25656542	25656542	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25656542A>G	uc002wva.3	-	3	1904	c.1382T>C	c.(1381-1383)gTg>gCg	p.V461A	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.V429A|ZNF337_uc002wvc.3_Missense_Mutation_p.V461A	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTCCTTGCACACAAAAGGCTT	0.468000														232			20		0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86197066	86197066	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86197066A>T	uc003pko.4	+	4	1519	c.963A>T	c.(961-963)aaA>aaT	p.K321N	NT5E_uc010kbr.3_Missense_Mutation_p.K321N	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	321					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CAAGCATAAAAGCAGACATTA	0.363000														82			20		0	0	1	0	0
LRIT3	345193	broad.mit.edu	37	4	110791482	110791482	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110791482A>G	uc003hzx.4	+	2	1635	c.1442A>G	c.(1441-1443)gAc>gGc	p.D481G	LRIT3_uc003hzw.4_Missense_Mutation_p.D343G	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	481	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		GGTGGGAAGGACCTGCTGCTG	0.478000														160			37		0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64664489	64664489	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64664489A>G	uc021qzu.1	-	11	1590	c.1590T>C	c.(1588-1590)acT>acC	p.T530T	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Silent_p.T370T|C12orf56_uc001srz.3_Silent_p.T12T|C12orf56_uc001sry.3_Silent_p.T112T	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	533										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TGGCCACAAAAGTAATCTAGA	0.438000														84			17		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167833206	167833206	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167833206C>T	uc003lzu.3	+	5	687	c.594C>T	c.(592-594)atC>atT	p.I198I	WWC1_uc003lzv.3_Silent_p.I198I|WWC1_uc011den.2_Silent_p.I198I|WWC1_uc003lzw.3_5'UTR	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	198					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CTCCTAGAATCGATAAGAAAA	0.483000														175			34		0	0	1	0	0
SLC38A7	55238	broad.mit.edu	37	16	58713944	58713944	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58713944G>A	uc002eod.1	-	2	480	c.87C>T	c.(85-87)ccC>ccT	p.P29P	SLC38A7_uc002eoc.1_Silent_p.P29P|SLC38A7_uc010vil.1_Intron|SLC38A7_uc002eoe.1_Silent_p.P29P	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	29					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCCACACAGGGACTCTGCA	0.627000														72			12		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84132743	84132743	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132743C>T	uc002fhi.3	-	2	838	c.336G>A	c.(334-336)gcG>gcA	p.A112A		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	112					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity	p.A112V(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGCAGCCCCGCTTTCTGTT	0.423000														152			35		0	0	1	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446300	29446300	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446300G>A	uc003aeg.3	+	7	2131	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	ZNRF3_uc021wnq.1_Missense_Mutation_p.A611T	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	711						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCGTCGTGTGCCTGCTGCTG	0.697000														88			25		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483762	26483762	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483762T>G	uc003gse.1	-	4	938	c.785A>C	c.(784-786)aAa>aCa	p.K262T		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCCTCATATTTGCCGCTGCT	0.617000														216			49		0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761490	111761490	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111761490T>G	uc004bdo.1	-	1	230	c.188A>C	c.(187-189)aAa>aCa	p.K63T	CTNNAL1_uc004bdp.1_Missense_Mutation_p.K63T	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	63					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TTGCAGAGTTTTATCAGACTT	0.333000														168			21		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141046090	141046090	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141046090C>T	uc003llm.3	-	16	2551	c.2473G>A	c.(2473-2475)Ggc>Agc	p.G825S	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.G487S|ARAP3_uc003lln.3_Missense_Mutation_p.G727S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	825					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CGAAGGAGGCCAAACCCTGAC	0.706000														45			7		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32063627	32063627	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32063627A>G	uc003nzl.2	-	2	2205	c.2003T>C	c.(2002-2004)cTg>cCg	p.L668P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	668	EGF-like 17.				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						CACGTGGCACAGGCACACTCC	0.721000														67			7		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432435	45432435	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432435G>A	uc001wvw.3	+	0	1020	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	FAM179B_uc001wvv.3_Missense_Mutation_p.E271K|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.E271K|FAM179B_uc001wvu.3_Missense_Mutation_p.E271K	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	271							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GGAGACAGAAGAAGAATCTGA	0.493000														168			38		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140789477	140789477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140789477G>A	uc003lkj.2	+	0	1708	c.1708G>A	c.(1708-1710)Gac>Aac	p.D570N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.D570N	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	572			D -> G (in dbSNP:rs2074912).		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)			TCTGGGTCCTGACGGCTCCGC	0.652000														73			26		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38996982	38996982	+	Missense_Mutation	SNP	G	A	A	rs138647599		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38996982G>A	uc002oit.3	+	54	8711	c.8581G>A	c.(8581-8583)Gac>Aac	p.D2861N	RYR1_uc002oiu.3_Missense_Mutation_p.D2861N|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2861	6 X approximate repeats.				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)	TCAGCCCCCCGACCTTAGTGC	0.607000														143			28		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204587617	204587617	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204587617G>T	uc021phy.1	-	0	1504	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.L502M|LRRN2_uc001hbf.1_Missense_Mutation_p.L502M|LRRN2_uc009xbf.1_Missense_Mutation_p.L502M|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	502	Ig-like C2-type.				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)			GCCCCCACCAGGTTCTGGGCC	0.652000														103			36		9.04072e-19	1.09469e-18	1	1	0
RASA2	5922	broad.mit.edu	37	3	141291549	141291549	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141291549A>C	uc010huq.1	+	11	1268	c.1268A>C	c.(1267-1269)aAa>aCa	p.K423T	RASA2_uc003etz.1_Missense_Mutation_p.K423T|RASA2_uc003eua.1_Missense_Mutation_p.K423T|RASA2_uc011bnc.1_Missense_Mutation_p.K15T	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	423	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GTAACATTAAAACCTATTCTT	0.373000														65			14		0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151896655	151896655	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151896655C>T	uc004fgb.3	-	2		c.334G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ACAGTCTACTCCAGTCCACCT	0.527000														156			54		0	0	1	0	0
OR5A2	219981	broad.mit.edu	37	11	59189727	59189727	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59189727C>T	uc010rkt.2	-	0	700	c.700G>A	c.(700-702)Ggt>Agt	p.G234S		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						TTTGTCCTACCTGTAGCTGAG	0.478000														74			12		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50599296	50599296	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50599296A>T	uc010qgq.2	-	1	61	c.61T>A	c.(61-63)Ttt>Att	p.F21I	DRGX_uc021pqd.1_Missense_Mutation_p.F16I	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	21					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						TGATTGCCAAAGGTTGCAGTG	0.567000														34			9		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814506	242814506	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242814506G>T	uc010fzu.1	+	1	822	c.799G>T	c.(799-801)Gac>Tac	p.D267Y		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	267						integral to membrane											GGCCATTGGAGACCCCCTCTT	0.662000														189			66		9.04393e-38	1.14822e-37	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64968149	64968149	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968149A>G	uc001jmn.3	-	9	3580	c.3280T>C	c.(3280-3282)Ttc>Ctc	p.F1094L	JMJD1C_uc001jml.3_Missense_Mutation_p.F875L|JMJD1C_uc001jmm.3_Missense_Mutation_p.F806L|JMJD1C_uc010qiq.2_Missense_Mutation_p.F912L|JMJD1C_uc009xpi.3_Missense_Mutation_p.F912L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.F131L	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1094					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AATGTAGTGAAATAGTTACTT	0.373000														230			59		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	676148	676148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676148C>T	uc003gay.3	-	9	1339	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	MFSD7_uc003gaw.3_Missense_Mutation_p.A170T|MFSD7_uc003gax.3_Missense_Mutation_p.A427T|MFSD7_uc003gaz.3_Missense_Mutation_p.A309T	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	428					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACAGGCCGGCCATCAGCAGC	0.647000														41			7		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870714	69870714	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69870714T>C	uc011cao.1	-	7	1441	c.1315A>G	c.(1315-1317)Acc>Gcc	p.T439A	UGT2B10_uc011can.1_Missense_Mutation_p.T355A			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGGAACCAGGTGAGGTCATGG	0.483000														237			53		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30664242	30664242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30664242G>A	uc002dyy.3	+	4	580	c.322G>A	c.(322-324)Gac>Aac	p.D108N	PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Missense_Mutation_p.D108N|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	108	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAGGCCTCCCGACCCTCTGTG	0.652000														150			34		0	0	1	0	0
CCDC111	201973	broad.mit.edu	37	4	185606792	185606792	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185606792C>T	uc003iwk.2	+	10	1682	c.1249C>T	c.(1249-1251)Cgg>Tgg	p.R417W	CCDC111_uc003iwj.2_Missense_Mutation_p.R416W|CCDC111_uc003iwm.2_Missense_Mutation_p.R288W|CCDC111_uc003iwn.2_Missense_Mutation_p.R157W	NM_152683	NP_689896	Q96LW4	CC111_HUMAN	Homo sapiens coiled-coil domain containing 111 (CCDC111), mRNA.	417					DNA replication, synthesis of RNA primer		DNA primase activity	p.R417L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2)	16		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131)		all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173)		TTGTAAATATCGGTGGTGTGA	0.279000														80			19		0	0	1	0	0
RIMKLA	284716	broad.mit.edu	37	1	42875661	42875661	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42875661C>A	uc001chi.2	+	3	626	c.488C>A	c.(487-489)gCt>gAt	p.A163D		NM_173642	NP_775913	Q8IXN7	RIMKA_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member A (RIMKLA), mRNA.	163	ATP-grasp.				protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AAAGGAAAAGCTGTTTTTCTG	0.468000														194			55		5.12918e-33	6.47874e-33	1	1	0
RHOBTB2	23221	broad.mit.edu	37	8	22864733	22864733	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22864733A>G	uc003xcp.2	+	6	1324	c.1041A>G	c.(1039-1041)caA>caG	p.Q347Q	RHOBTB2_uc011kzp.1_Silent_p.Q332Q|RHOBTB2_uc003xcq.2_Silent_p.Q325Q|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	325	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	p.V347M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		ACTCTGATCAAcaccaccacc	0.652000														148			42		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119244150	119244150	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119244150G>A	uc001pwm.4	-	1	336	c.41C>T	c.(40-42)tCg>tTg	p.S14L	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	14	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GTAGCGGGCCGATTCTGTGTA	0.592000														100			14		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609861	81609861	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609861G>A	uc001xvd.1	+	9	1615	c.1459G>A	c.(1459-1461)Gac>Aac	p.D487N		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	487					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.I486F(9)|p.I486M(3)|p.I486N(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCATGCCATCGACTGGCAGAC	0.552000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							110			41		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67984390	67984390	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67984390G>A	uc010vkj.1	-	10	1507	c.1467C>T	c.(1465-1467)ggC>ggT	p.G489G	SLC12A4_uc010ceu.2_Silent_p.G481G|SLC12A4_uc010vkh.1_Silent_p.G456G|SLC12A4_uc002euz.2_Silent_p.G487G|SLC12A4_uc010vki.1_Silent_p.G487G|SLC12A4_uc002eva.2_Silent_p.G487G|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	487					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGACACCATCGCCATACCTGC	0.627000														95			16		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100645275	100645275	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100645275G>A	uc003dun.3	-	1	236	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	ABI3BP_uc003duo.2_Missense_Mutation_p.L44F|ABI3BP_uc003dup.4_Missense_Mutation_p.L44F	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	51						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						AACTTCAAGAGGATGGAGTCA	0.448000														70			15		0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658722	52658722	+	Silent	SNP	C	T	T	rs139619574	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52658722C>T	uc010ydj.2	-	4	2736	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ZNF836_uc010ydi.2_Silent_p.T738T	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	Homo sapiens zinc finger protein 836 (ZNF836), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTGATGGTACGTCAGGCCTG	0.418000														93			9		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14307947	14307947	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14307947T>C	uc021war.1	-	0	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.Q69R|FLRT3_uc002wow.2_Missense_Mutation_p.Q69R	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	69					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		ATTATTTATTTGGTTGTTCTG	0.393000														153			40		0	0	1	0	0
HRASLS2	54979	broad.mit.edu	37	11	63327622	63327622	+	Missense_Mutation	SNP	C	T	T	rs151240711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63327622C>T	uc001nxg.1	-	1	112	c.53G>A	c.(52-54)cGc>cAc	p.R18H		NM_017878	NP_060348	Q9NWW9	HRSL2_HUMAN	Homo sapiens HRAS-like suppressor 2 (HRASLS2), mRNA.	18					lipid catabolic process	cytoplasm	acyltransferase activity|hydrolase activity	p.S17Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6						ATAGCCAAAGCGAGAAATCTC	0.502000														296			65		0	0	1	0	0
LACRT	90070	broad.mit.edu	37	12	55028594	55028594	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55028594G>T	uc001sgi.1	-	0	70	c.32C>A	c.(31-33)gCt>gAt	p.A11D		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	11					calcineurin-NFAT signaling pathway|positive regulation of NFAT protein import into nucleus|positive regulation of epithelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCCTGCTACAGCTGCCAAGAA	0.527000														120			16		3.41278e-10	3.83229e-10	1	1	0
PTPN6	5777	broad.mit.edu	37	12	7061307	7061307	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7061307A>G	uc001qsb.2	+	2	535	c.293A>G	c.(292-294)tAc>tGc	p.Y98C	PTPN6_uc001qsa.1_Missense_Mutation_p.Y100C|PTPN6_uc010sfr.1_Missense_Mutation_p.Y59C|PTPN6_uc009zfl.1_Missense_Mutation_p.Y98C|PTPN6_uc010sfs.1_Missense_Mutation_p.Y86C	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	98	SH2 1.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						CACCTCAAGTACCCGCTGAAC	0.627000														200			39		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525063	61525063	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525063G>A	uc002ydr.2	-	11	3368	c.3056C>T	c.(3055-3057)tCt>tTt	p.S1019F	DIDO1_uc002yds.2_Missense_Mutation_p.S1019F|DIDO1_uc002ydt.2_Missense_Mutation_p.S1019F|DIDO1_uc002ydu.2_Missense_Mutation_p.S1019F	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1019					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGTCAGGAGATGAGGATGG	0.488000														204			47		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12957129	12957129	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12957129G>A	uc003bxt.2	-	6	2176	c.2167C>T	c.(2167-2169)Cag>Tag	p.Q723*	IQSEC1_uc003bxu.3_Nonsense_Mutation_p.Q601*|IQSEC1_uc011auw.1_Nonsense_Mutation_p.Q709*	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	723					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCACCTTCTGCACCTGGGAC	0.602000														150			39		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25393972	25393972	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25393972C>A	uc003gro.3	+	9	847	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	ANAPC4_uc003grp.3_Missense_Mutation_p.L125M|ANAPC4_uc010ieu.1_Missense_Mutation_p.L49M|ANAPC4_uc010iet.1_Missense_Mutation_p.L49M	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	240					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TGAAACTAATCTGTTGTACTC	0.358000														55			12		3.07112e-06	3.25591e-06	1	1	0
HTR5A	3361	broad.mit.edu	37	7	154863276	154863276	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863276A>T	uc003wlu.1	+	0	731	c.667A>T	c.(667-669)Atc>Ttc	p.I223F	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	223						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTACTGGAAGATCTACAAGGC	0.567000														90			17		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56181885	56181885	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56181885T>C	uc003jqw.4	+	16	4610	c.4109T>C	c.(4108-4110)gTc>gCc	p.V1370A		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1370	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CACAGAGATGTCAAAGGTGAG	0.363000														100			10		0	0	1	0	0
MOB3A	126308	broad.mit.edu	37	19	2078330	2078330	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2078330C>A	uc002luu.3	-	0	389	c.230G>T	c.(229-231)gGc>gTc	p.G77V	MOB3A_uc002luv.3_Missense_Mutation_p.G77V	NM_130807	NP_570719	Q96BX8	MOL2A_HUMAN	Homo sapiens MOB kinase activator 3A (MOB3A), mRNA.	77						intracellular	metal ion binding										GCTGATGGTGCCGTAGATGAG	0.637000														159			35		4.31634e-10	4.84066e-10	1	1	0
GEMIN4	50628	broad.mit.edu	37	17	650531	650531	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650531G>A	uc002frs.1	-	1	871	c.752C>T	c.(751-753)gCg>gTg	p.A251V	GEMIN4_uc010vqa.1_Intron	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607000														284			62		0	0	1	0	0
GNRH2	2797	broad.mit.edu	37	20	3025459	3025459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3025459C>T	uc002whr.1	+	2	340	c.289C>T	c.(289-291)Cga>Tga	p.R97*	GNRH2_uc002whp.1_Nonsense_Mutation_p.R90*|GNRH2_uc002whq.1_Nonsense_Mutation_p.R89*|GNRH2_uc010gau.1_Nonsense_Mutation_p.R97*|MRPS26_uc002whs.3_5'Flank	NM_001501	NP_001492	O43555	GON2_HUMAN	Homo sapiens gonadotropin-releasing hormone 2 (GNRH2), transcript variant 1, mRNA.	97					multicellular organismal development|signal transduction	extracellular region|soluble fraction	hormone activity			ovary(1)|upper_aerodigestive_tract(1)	2						TCACAGGAAGCGACACCTGGC	0.637000														41			9		0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386950	187386950	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386950T>G	uc003frn.3	-	1	376	c.254A>C	c.(253-255)gAg>gCg	p.E85A		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	85					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	TCTCTGCAGCTCAAGCCTCAT	0.517000														410			99		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285051	62285051	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285051A>C	uc001ntl.3	-	4	17138	c.16838T>G	c.(16837-16839)tTt>tGt	p.F5613C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5613	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCCCAGCAAACTTAGATGT	0.542000														294			70		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901191	52901191	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901191C>T	uc010ugf.2	-	4	2075	c.1941G>A	c.(1939-1941)caG>caA	p.Q647Q	FAM214A_uc002acg.4_Silent_p.Q640Q|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.Q552Q	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	640																	AATTTGAATACTGTTTATCAA	0.299000														70			17		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131467678	131467678	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131467678C>T	uc004bvw.3	+	1	514	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	PKN3_uc010myh.3_Missense_Mutation_p.R41W|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	41					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GGAGAACCTGCGGCGCGTGGC	0.682000														29			7		0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71941873	71941873	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71941873A>G	uc001osf.3	+	10	1378	c.1231A>G	c.(1231-1233)Atg>Gtg	p.M411V	INPPL1_uc001osg.3_Missense_Mutation_p.M169V	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	411					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GTTGCAGCTCATGAAGAACAA	0.637000														109			29		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85863059	85863059	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85863059G>T	uc004ams.2	-	13	1770	c.1568C>A	c.(1567-1569)cCa>cAa	p.P523Q	FRMD3_uc004amr.1_Missense_Mutation_p.P523Q|FRMD3_uc022bja.1_Missense_Mutation_p.P479Q|FRMD3_uc004amq.1_Missense_Mutation_p.P180Q|FRMD3_uc022biz.1_Missense_Mutation_p.P329Q	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	523						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						CTTGACCAGTGGGTTCACCCG	0.517000														122			30		6.38683e-12	7.32513e-12	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77736067	77736067	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77736067C>A	uc021rks.1	-	43	6838	c.6571G>T	c.(6571-6573)Gaa>Taa	p.E2191*	MYCBP2_uc010aev.3_Nonsense_Mutation_p.E1557*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAAGAATTTCAAGGTCTTCT	0.294000														72			12		0.00136819	0.00139829	1	1	0
FRYL	285527	broad.mit.edu	37	4	48503735	48503735	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48503735G>A	uc003gyh.1	-	61	9102	c.8497C>T	c.(8497-8499)Cga>Tga	p.R2833*	FRYL_uc003gye.1_Nonsense_Mutation_p.R15*|FRYL_uc003gyf.1_Nonsense_Mutation_p.R223*|FRYL_uc003gyg.1_Nonsense_Mutation_p.R1523*	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2833					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TATAATCTTCGGCAGAGCTCC	0.303000														119			29		0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27737093	27737093	+	Silent	SNP	G	A	A	rs143382394	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27737093G>A	uc003xgj.3	-	7	1955	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	SCARA5_uc010luz.3_Silent_p.F223F	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	448	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity	p.R447P(1)		central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TACCTTGCCCGAATCGAGCTG	0.612000														288			12		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877748	150877748	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877748G>T	uc003eyp.3	+	6	1096	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Nonsense_Mutation_p.G323*|MED12L_uc003eyo.3_Nonsense_Mutation_p.G323*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	323					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CATGATGATAGGACCAAACAA	0.607000														375			80		9.25274e-37	1.17377e-36	1	1	0
OR51B5	282763	broad.mit.edu	37	11	5364599	5364599	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5364599A>G	uc001map.1	-	0	156	c.156T>C	c.(154-156)aaT>aaC	p.N52N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Silent_p.N52N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCATGAAGATTGTGATCTT	0.502000														98			32		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31050965	31050965	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31050965C>T	uc002eal.3	+	8	1030	c.806C>T	c.(805-807)gCg>gTg	p.A269V	STX4_uc002eak.3_Missense_Mutation_p.A267V|STX4_uc002eam.3_Missense_Mutation_p.A191V|BC039500_uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	269	Interaction with CENPF (By similarity).			A -> V (in Ref. 1; AAA20967).	intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CAGAAGAAGGCGAGGAAGGTG	0.587000														246			53		0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204128549	204128549	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204128549C>T	uc001haq.2	-	4	711	c.667G>A	c.(667-669)Gtc>Atc	p.V223I		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	223					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAAGAGAAGACGTCCTCTTTT	0.562000														153			45		0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72299898	72299898	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72299898G>A	uc010rrc.2	-	12	1246	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	PDE2A_uc001oso.3_Missense_Mutation_p.P313S|PDE2A_uc010rra.2_Missense_Mutation_p.P327S|PDE2A_uc001osn.3_Intron|PDE2A_uc010rrb.2_Missense_Mutation_p.P325S|PDE2A_uc010rrd.2_Missense_Mutation_p.P219S	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	334	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CTGATGACAGGGACACAGAGC	0.592000														133			38		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965230	48965230	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965230C>T	uc002pje.1	+	1	654	c.249C>T	c.(247-249)gaC>gaT	p.D83D	KCNJ14_uc002pjf.1_Silent_p.D83D	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	83						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CATGCGTGGACGTGCGCTGGC	0.642000														61			14		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85660237	85660237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85660237C>T	uc003hpd.3	-	39	6908	c.6500G>A	c.(6499-6501)cGc>cAc	p.R2167H		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2167						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R2167L(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTGGTCATGCGGGCTTCTGC	0.413000														94			24		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76450748	76450748	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76450748G>T	uc010dhp.2	-	63	10335	c.10210C>A	c.(10210-10212)Ctg>Atg	p.L3404M	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTGTCAGCAGGCTCAAGGGA	0.587000														138			25		5.45024e-15	6.43213e-15	1	1	0
OR2L1P	26247	broad.mit.edu	37	1	248154348	248154348	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248154348G>A	uc001idv.1	+	0	780	c.536G>A	c.(535-537)cGc>cAc	p.R179H	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						ACCTATCTACGCCCAAGATCC	0.512000														184			62		0	0	1	0	0
EXOC4	60412	broad.mit.edu	37	7	132959895	132959895	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132959895G>A	uc003vrk.3	+	1	280	c.245G>A	c.(244-246)cGc>cAc	p.R82H	EXOC4_uc011kpo.2_5'UTR|EXOC4_uc003vri.3_Missense_Mutation_p.R82H|EXOC4_uc003vrj.3_Missense_Mutation_p.R82H	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	82					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCACAGAGCGCATCACTAAC	0.473000														89			9		0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74371489	74371489	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74371489C>A	uc002fcr.2	-	10	1835	c.489G>T	c.(487-489)caG>caT	p.Q163H	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		AGAAGAGGTACTGTAGAACTT	0.537000														44			11		0.000673444	0.000690401	1	1	0
PPEF2	5470	broad.mit.edu	37	4	76811174	76811174	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76811174C>T	uc003hix.3	-	4	710	c.353G>A	c.(352-354)cGc>cAc	p.R118H	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R118H	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	118				R -> S (in Ref. 1; AAB82796/AAB82797).	detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAAGGAGAGGCGTGGCCCCGT	0.532000														246			41		0	0	1	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557806	9557806	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:9557806G>A	uc021xlt.1	-	0		c.132C>T								Homo sapiens microRNA 548i-2 (MIR548I2), microRNA.																		GATCAGGGACGAACTTTGTTA	0.383000														194			38		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51618011	51618011	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51618011C>A	uc003pah.1	-	56	9214	c.8938G>T	c.(8938-8940)Gaa>Taa	p.E2980*	PKHD1_uc010jzn.1_Nonsense_Mutation_p.E963*|PKHD1_uc003pai.3_Nonsense_Mutation_p.E2980*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2980					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R2979*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAATTCTTCTCGGCTGGAC	0.443000														127			20		0.00121646	0.00124375	1	1	0
KRTAP4-5	85289	broad.mit.edu	37	17	39305864	39305864	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39305864C>A	uc002hwb.3	-	0	191	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	Homo sapiens keratin associated protein 4-5 (KRTAP4-5), mRNA.	52	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agcagGTGGGCTGGTAGCACA	0.672000														140			29		7.26314e-15	8.55724e-15	1	1	0
HERC1	8925	broad.mit.edu	37	15	64050478	64050478	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64050478C>T	uc002amp.3	-	3	1265	c.1117G>A	c.(1117-1119)Gag>Aag	p.E373K	HERC1_uc010uil.1_Intron|HERC1_uc010bgt.1_Missense_Mutation_p.E373K	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	373					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATAAACCTCACAGGTTTCG	0.448000														57			11		0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112736342	112736342	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736342T>G	uc003dzr.3	-	1	275	c.214A>C	c.(214-216)Aat>Cat	p.N72H	C3orf17_uc011bia.2_Intron|C3orf17_uc003dzu.3_Missense_Mutation_p.N71H|C3orf17_uc011bib.2_Intron|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Intron|C3orf17_uc003dzs.3_Intron|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	72						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CTGTTGTGATTGCTGTAAAGG	0.468000														99			31		0	0	1	0	0
MCOLN2	255231	broad.mit.edu	37	1	85431291	85431291	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85431291G>A	uc001dkm.3	-	1	419	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	60						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GGAATCTGGCGTCTGGCTCGG	0.413000														98			7		0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17462277	17462277	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17462277C>A	uc002wpm.3	+	11	1833	c.1479C>A	c.(1477-1479)gcC>gcA	p.A493A	PCSK2_uc002wpl.3_Silent_p.A474A|PCSK2_uc010zrm.2_Silent_p.A458A|PCSK2_uc002wpn.3_Silent_p.A147A	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	493					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAACCGACGCCTGTGAGGGGA	0.517000														152			36		5.71845e-15	6.74756e-15	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66359860	66359860	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66359860G>T	uc001oiq.4	-	0	695	c.627C>A	c.(625-627)atC>atA	p.I209I	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	209										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GAGGCCAGGGGATAGGGCACA	0.602000														97			13		4.36969e-10	4.89342e-10	1	1	0
ASIC4	55515	broad.mit.edu	37	2	220397076	220397076	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220397076G>T	uc002vlz.3	+	3	1450	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ASIC4_uc010fwi.2_Nonsense_Mutation_p.E426*|ASIC4_uc010fwj.2_Nonsense_Mutation_p.E426*|ASIC4_uc002vly.2_3'UTR|ASIC4_uc002vma.3_Nonsense_Mutation_p.E426*|ASIC4_uc002vmb.3_Nonsense_Mutation_p.E80*	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	426						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CTGCCGCGCAGAGAGTGAGCT	0.642000														139			38		6.19805e-25	7.7128e-25	1	1	0
SLC6A18	348932	broad.mit.edu	37	5	1242833	1242833	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1242833G>T	uc003jby.2	+	7	1109	c.986G>T	c.(985-987)aGc>aTc	p.S329I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	329					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)			AACATCCTCAGCCTCATCAAC	0.587000														116			26		3.6726e-16	4.37102e-16	1	1	0
CACHD1	57685	broad.mit.edu	37	1	65137258	65137258	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65137258C>A	uc001dbo.1	+	16	2351	c.2246C>A	c.(2245-2247)tCt>tAt	p.S749Y	CACHD1_uc001dbp.1_Missense_Mutation_p.S504Y|CACHD1_uc001dbq.1_Missense_Mutation_p.S504Y|CACHD1_uc010opa.1_5'UTR	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	800					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACACAGCTGTCTTCTGGGCAC	0.413000														177			21		7.45023e-12	8.53574e-12	1	1	0
MYOZ3	91977	broad.mit.edu	37	5	150056304	150056304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150056304G>A	uc003lss.2	+	6	1210	c.623G>A	c.(622-624)gGc>gAc	p.G208D	MYOZ3_uc003lsr.2_Missense_Mutation_p.G208D	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	208						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGTGGGGGGCACTTTTCCC	0.627000														202			36		0	0	1	0	0
DUSP26	78986	broad.mit.edu	37	8	33454996	33454996	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33454996A>C	uc003xjp.3	-	1	371	c.38T>G	c.(37-39)tTt>tGt	p.F13C	DUSP26_uc003xjq.3_Missense_Mutation_p.F13C	NM_024025	NP_076930	Q9BV47	DUS26_HUMAN	Homo sapiens dual specificity phosphatase 26 (putative) (DUSP26), mRNA.	13						Golgi apparatus|nucleus	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)	15				KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111)		GCGGGCCATAAAAGTCATAGA	0.542000														76			19		0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41474522	41474522	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41474522A>C	uc001cgk.4	+	15	2014	c.1506A>C	c.(1504-1506)caA>caC	p.Q502H	CTPS1_uc010ojo.2_Missense_Mutation_p.Q271H|CTPS1_uc001cgl.4_Missense_Mutation_p.Q502H|CTPS1_uc010ojq.2_Missense_Mutation_p.Q346H	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	502	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	TTGTTGGCCAAGATGTTGAAG	0.393000														140			49		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19708076	19708076	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19708076C>T	uc002zpv.2	+	6	627	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	SEPT5_uc002zpw.1_Missense_Mutation_p.R177W|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	168					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGGCAGGCTGCGGCCAGTGGA	0.607000														127			39		0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110435097	110435097	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110435097T>C	uc001vqv.3	-	0	3818	c.3304A>G	c.(3304-3306)Acg>Gcg	p.T1102A		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	1102					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGCCCGACGTCGGGCTGGCC	0.701000														34			8		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168819903	168819903	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168819903G>A	uc011bpj.1	-	10	3119	c.2716C>T	c.(2716-2718)Ccc>Tcc	p.P906S	MECOM_uc010hwk.1_Missense_Mutation_p.P732S|MECOM_uc003ffj.3_Missense_Mutation_p.P783S|MECOM_uc003ffi.3_Missense_Mutation_p.P718S|MECOM_uc011bpi.1_Missense_Mutation_p.P710S|MECOM_uc003ffn.3_Missense_Mutation_p.P718S|MECOM_uc003ffk.2_Missense_Mutation_p.P709S|MECOM_uc003ffl.2_Missense_Mutation_p.P869S|MECOM_uc011bpk.1_Missense_Mutation_p.P718S|MECOM_uc010hwn.2_Missense_Mutation_p.P897S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGGGCATTGGGAGGCGCCCTG	0.512000														93			16		0	0	1	0	0
BPIFA1	51297	broad.mit.edu	37	20	31825910	31825910	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31825910C>A	uc002wyt.4	+	2	280	c.210C>A	c.(208-210)aaC>aaA	p.N70K	BPIFA1_uc002wyu.4_Missense_Mutation_p.N70K|BPIFA1_uc002wyv.3_Missense_Mutation_p.N70K	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	Homo sapiens BPI fold containing family A, member 1 (BPIFA1), transcript variant 2, mRNA.	70					innate immune response	extracellular region	lipid binding										TTCTGGAAAACCTTCCGCTCC	0.562000														103			25		4.7796e-09	5.27959e-09	1	1	0
ZC3HAV1	56829	broad.mit.edu	37	7	138749734	138749734	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138749734C>T	uc003vun.3	-	7	2272	c.1884G>A	c.(1882-1884)cgG>cgA	p.R628R	ZC3HAV1_uc003vuo.3_Silent_p.R89R|ZC3HAV1_uc003vup.3_Silent_p.R628R	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	628	WWE.				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						TTGAATTTTTCCGTTTGTCTT	0.408000														81			19		0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80866940	80866940	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866940G>A	uc004aky.4	+	8	1465	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	CEP78_uc004akx.2_Missense_Mutation_p.E396K|CEP78_uc010mpp.3_Missense_Mutation_p.E397K	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	396					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCGTACTGCAGAACGTGCAAA	0.413000														18			6		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54319276	54319276	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54319276G>T	uc003gzy.3	+	15	1661	c.1475G>T	c.(1474-1476)aGt>aTt	p.S492I	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Missense_Mutation_p.S486I|PDGFRA_uc003gzz.3_Missense_Mutation_p.S418I|PDGFRA_uc003hab.3_Missense_Mutation_p.S457I|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Missense_Mutation_p.V77F	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A491T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CGTGATCACAGTCCTACACCA	0.438000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				103			26		9.80776e-20	1.19282e-19	1	1	0
PRKCI	5584	broad.mit.edu	37	3	170002313	170002313	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170002313G>A	uc003fgs.2	+	11	1370	c.1132G>A	c.(1132-1134)Gat>Aat	p.D378N		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	378	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AATTTATAGAGATTTGAAACT	0.308000														65			5		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3381489	3381489	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381489C>T	uc001lxt.3	-	5	931	c.749G>A	c.(748-750)gGc>gAc	p.G250D	ZNF195_uc010qxr.2_Missense_Mutation_p.G231D|ZNF195_uc009ydz.3_Missense_Mutation_p.G205D|ZNF195_uc001lxu.3_Missense_Mutation_p.G182D|ZNF195_uc001lxv.3_Missense_Mutation_p.G227D|ZNF195_uc021qck.1_Missense_Mutation_p.G182D|ZNF195_uc001lxs.3_Missense_Mutation_p.G178D	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGATTTGCCACATTCTTG	0.299000														61			12		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63920906	63920906	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63920906T>C	uc002amp.3	-	69	13223	c.13075A>G	c.(13075-13077)Aca>Gca	p.T4359A		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	4359					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGTGGTGCTGTCCATGCAGCA	0.532000														88			26		0	0	1	0	0
CALR	811	broad.mit.edu	37	19	13054419	13054419	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13054419C>T	uc002mvu.2	+	7	1109	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	343	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	p.G343D(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAGTTTGGCAACGAGACGT	0.592000														118			20		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967122	81967122	+	Missense_Mutation	SNP	C	A	A	rs147415195		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967122C>A	uc003hmg.4	+	1	867	c.547C>A	c.(547-549)Ctg>Atg	p.L183M		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	183					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.H182R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCTTGGCCATCTGTCAGTGGA	0.438000														246			37		3.33393e-15	3.94119e-15	1	1	0
RUVBL2	10856	broad.mit.edu	37	19	49510577	49510577	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49510577C>T	uc002plr.1	+	5	427	c.414C>T	c.(412-414)atC>atT	p.I138I	RUVBL2_uc010yab.2_Silent_p.I138I|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Silent_p.I93I	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	138					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGGAGATCATCGAAGGGGAGG	0.582000														126			12		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166912074	166912074	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166912074G>A	uc003qvd.1	-	9	857	c.744C>T	c.(742-744)atC>atT	p.I248I	RPS6KA2_uc011ego.1_Silent_p.I134I|RPS6KA2_uc010kkl.1_Silent_p.I134I|RPS6KA2_uc003qvb.1_Silent_p.I223I|RPS6KA2_uc003qvc.1_Silent_p.I231I	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	223	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CCATGTACTCGATCGTCCCGC	0.597000														128			37		0	0	1	0	0
MZT2B	80097	broad.mit.edu	37	2	130948058	130948058	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130948058C>T	uc002tqu.3	+	2	691	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_025029	NP_079305	Q6NZ67	MZT2B_HUMAN	Homo sapiens mitotic spindle organizing protein 2B (MZT2B), mRNA.	112						centrosome|gamma-tubulin ring complex|spindle	protein binding			lung(1)	1						ACAAAGGCAGCGCTGCCCTCG	0.627000														94			42		0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686528	108686528	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108686528T>A	uc009zuw.3	-	2	403	c.212A>T	c.(211-213)aAg>aTg	p.K71M	CMKLR1_uc001tmw.3_Missense_Mutation_p.K71M|CMKLR1_uc001tmv.3_Missense_Mutation_p.K69M|CMKLR1_uc009zuv.3_Missense_Mutation_p.K71M|CMKLR1_uc021rdj.1_Missense_Mutation_p.K69M	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	71					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GTTCACTGTCTTCTTCATCTT	0.517000														129			43		0	0	1	0	0
COPB1	1315	broad.mit.edu	37	11	14510081	14510081	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14510081A>G	uc001mlh.2	-	5	902	c.656T>C	c.(655-657)tTt>tCt	p.F219S	COPB1_uc001mli.2_Missense_Mutation_p.F219S|COPB1_uc001mlg.2_Missense_Mutation_p.F219S	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	219					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AATGTCTCCAAATGTTTGAAC	0.313000														40			6		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113917132	113917132	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113917132C>A	uc009xxy.2	-	18	2206	c.1996G>T	c.(1996-1998)Gat>Tat	p.D666Y	GPAM_uc001kzp.3_Missense_Mutation_p.D666Y|GPAM_uc001kzq.1_Missense_Mutation_p.D666Y	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	666					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGACTGATATCTTCCTGGTCA	0.483000														87			23		6.44725e-10	7.21145e-10	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110765515	110765515	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110765515T>C	uc001tqk.4	+	7	1351	c.788T>C	c.(787-789)gTc>gCc	p.V263A	ATP2A2_uc001tql.4_Missense_Mutation_p.V263A|ATP2A2_uc021rdt.1_Missense_Mutation_p.V111A	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	263					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTTTCCAAAGTCATCTCCCTT	0.448000														310			12		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326844	85326844	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85326844G>T	uc002bld.3	+	3	1274	c.938G>T	c.(937-939)gGg>gTg	p.G313V	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	313					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATCTCTCAGGGCCCACTAAA	0.537000														173			32		1.88708e-17	2.26542e-17	1	1	0
GPS2	2874	broad.mit.edu	37	17	7228226	7228226	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7228226G>A	uc002gga.1	-	8	1712	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	GPS2_uc002ggb.1_Missense_Mutation_p.R569C|GPS2_uc002ggc.1_Intron	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.R569C(2)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TTGTCGATGCGCACCTGGAAC	0.577000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		268			66		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47393552	47393552	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47393552C>A	uc003bib.3	+	9	1314	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TBC1D22A_uc010haf.3_Missense_Mutation_p.P353H|TBC1D22A_uc003bie.3_Missense_Mutation_p.P305H|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.P336H	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	383	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTTGCCCAACCTGGGATTCAA	0.453000														120			31		2.61193e-14	3.06651e-14	1	1	0
FAM163A	148753	broad.mit.edu	37	1	179782952	179782952	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179782952C>T	uc009wxj.3	+	5	591	c.132C>T	c.(130-132)gaC>gaT	p.D44D	FAM163A_uc001gnj.3_Silent_p.D44D|FAM163A_uc009wxk.3_Silent_p.D44D	NM_173509	NP_775780	Q96GL9	F163A_HUMAN	Homo sapiens family with sequence similarity 163, member A (FAM163A), mRNA.	44						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)	15						AGGTTGCAGACGAGGAGGAGG	0.637000														132			40		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9862345	9862345	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9862345C>T	uc003btg.3	+	6	1121	c.645C>T	c.(643-645)atC>atT	p.I215I	TTLL3_uc003btd.4_Silent_p.I276I|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Silent_p.I3I|TTLL3_uc010hco.1_Silent_p.I151I|TTLL3_uc003bth.4_Silent_p.I3I|TTLL3_uc011atj.2_Silent_p.I151I|TTLL3_uc003btj.4_Silent_p.I3I|TTLL3_uc003bti.4_Silent_p.I3I	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	215	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACATGGACATCGACAAGGACC	0.587000														174			28		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41282496	41282496	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282496A>G	uc003azh.3	+	3	870	c.769A>G	c.(769-771)Att>Gtt	p.I257V	XPNPEP3_uc011aox.2_Missense_Mutation_p.I257V|XPNPEP3_uc003azi.3_Missense_Mutation_p.I178V|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	257					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ACGAATGCAGATTGCTGGGAA	0.527000														114			26		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20074812	20074812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20074812C>T	uc002zri.3	+	2	1277	c.848C>T	c.(847-849)cCg>cTg	p.P283L	DGCR8_uc010grz.3_Missense_Mutation_p.P283L|DGCR8_uc002zrj.3_5'UTR	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	283	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with NCL.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGTGCAGCCGATGATGACC	0.527000														112			18		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52369215	52369215	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52369215C>A	uc010snn.2	+	1	335	c.258C>A	c.(256-258)agC>agA	p.S86R	ACVR1B_uc001rzl.3_Missense_Mutation_p.S86R|ACVR1B_uc001rzm.3_Missense_Mutation_p.S86R|ACVR1B_uc001rzn.3_Missense_Mutation_p.S86R|ACVR1B_uc021qya.1_Missense_Mutation_p.S34R	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	86					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	ACTGCCTGAGCTCGGAGGACC	0.577000														113			22		1.28384e-07	1.38782e-07	1	1	0
FMO5	2330	broad.mit.edu	37	1	146672826	146672826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146672826G>A	uc001epi.2	-	6	1480	c.1091C>T	c.(1090-1092)cCa>cTa	p.P364L	FMO5_uc001eph.4_Missense_Mutation_p.P364L|FMO5_uc001epj.2_Intron	NM_001461	NP_001452	P49326	FMO5_HUMAN	Homo sapiens flavin containing monooxygenase 5 (FMO5), transcript variant 1, mRNA.	364						integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGCAAGAGTTGGCCTTTCCAG	0.453000														103			9		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111615981	111615981	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111615981C>T	uc003kpv.1	-	2	518	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	EPB41L4A_uc003kpw.1_Missense_Mutation_p.E82K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	82	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTGATCAGTTCTTTGTGTTCA	0.378000														253			54		0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	22022979	22022979	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22022979T>C	uc021pny.1	+	18	2779	c.2779T>C	c.(2779-2781)Tcc>Ccc	p.S927P	MLLT10_uc001iqs.3_Missense_Mutation_p.S943P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.S927P|MLLT10_uc001ira.3_Missense_Mutation_p.S384P|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	943					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TGTCACAATGTCCCAGAACCC	0.458000			T	"""MLL, PICALM, CDK6"""	AL									91			17		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189914108	189914108	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189914108C>T	uc002uqk.3	-	43	3387	c.3112G>A	c.(3112-3114)Ggc>Agc	p.G1038S	COL5A2_uc010frx.3_Missense_Mutation_p.G614S	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1038					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCATTGGAGCCTGGGGGCCCC	0.453000														34			14		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47692708	47692708	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47692708C>T	uc002zir.1	-	7	2268	c.2232G>A	c.(2230-2232)acG>acA	p.T744T		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	744					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.T744T(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCAGGGACACCGTCAGGGGGT	0.547000														133			28		0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39667313	39667313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39667313G>A	uc002okj.1	+	8	1904	c.1443G>A	c.(1441-1443)tgG>tgA	p.W481*	PAK4_uc002okl.1_Nonsense_Mutation_p.W481*|PAK4_uc002okn.1_Nonsense_Mutation_p.W481*|PAK4_uc002okm.1_Nonsense_Mutation_p.W328*|PAK4_uc002oko.1_Nonsense_Mutation_p.W328*|PAK4_uc002okp.1_Nonsense_Mutation_p.W391*	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	481	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CGCCCTACTGGATGGCCCCAG	0.647000														367			89		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88047336	88047336	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88047336C>T	uc011ccz.2	+	13	2934	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	AFF1_uc003hqj.4_Missense_Mutation_p.P880S|AFF1_uc003hqk.4_Missense_Mutation_p.P880S|AFF1_uc011cda.2_Missense_Mutation_p.P518S	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	880						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCCAGCCAAGCCTGCACTTAA	0.587000														163			33		0	0	1	0	0
POP1	10940	broad.mit.edu	37	8	99142303	99142303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99142303G>A	uc003yij.4	+	4	684	c.584G>A	c.(583-585)aGa>aAa	p.R195K	POP1_uc011lgv.2_Missense_Mutation_p.R195K|POP1_uc003yik.3_Missense_Mutation_p.R195K	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	195					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			TTTAACCGTAGACAAAAGAAG	0.443000														104			32		0	0	1	0	0
CCDC91	55297	broad.mit.edu	37	12	28636989	28636989	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:28636989C>A	uc001riq.3	+	10	1120	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	CCDC91_uc001rio.3_Missense_Mutation_p.T339N|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc009zjl.3_Missense_Mutation_p.T171N	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	369	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AAACAGGAAACTGTTAAGGCA	0.398000														24			4		5.9392e-07	6.36579e-07	1	1	0
SYT5	6861	broad.mit.edu	37	19	55687147	55687147	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687147C>T	uc002qjm.1	-	3	1530	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	SYT5_uc002qjp.2_Missense_Mutation_p.R154Q|SYT5_uc002qjn.1_Missense_Mutation_p.R157Q|SYT5_uc002qjo.1_Missense_Mutation_p.R157Q	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	157	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTACCGCCTCCGTTTGTCCGG	0.612000														211			21		0	0	1	0	0
PHB	5245	broad.mit.edu	37	17	47486797	47486797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47486797G>A	uc002iox.1	-	3	362	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	97					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GCGACAGGCCGGAAGAGGATG	0.483000														133			24		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40748583	40748583	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40748583G>A	uc002xkg.3	-	19	3060	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V	PTPRT_uc010ggj.3_Missense_Mutation_p.A978V|PTPRT_uc010ggi.3_Missense_Mutation_p.A162V	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	959	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCTTGAGTCGCAATGTAGTG	0.507000														160			30		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163134176	163134176	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163134176C>T	uc002uce.3	-	9	2015	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	598				R -> S (in Ref. 2; AAG54076).	detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TGCACAAACACGTTCTTTGCG	0.333000														58			13		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92732478	92732478	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92732478T>C	uc003umf.3	-	2	3203	c.2933A>G	c.(2932-2934)tAc>tGc	p.Y978C	SAMD9_uc003umg.3_Missense_Mutation_p.Y978C|SAMD9_uc022ahg.1_Missense_Mutation_p.Y978C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	978						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TACTCCACAGTAGTTCCCACA	0.393000														106			26		0	0	1	0	0
VAT1	10493	broad.mit.edu	37	17	41169881	41169881	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41169881G>T	uc002icm.1	-	3	953	c.833C>A	c.(832-834)cCc>cAc	p.P278H	VAT1_uc010cyw.1_Missense_Mutation_p.P144H|VAT1_uc010whk.1_Missense_Mutation_p.P210H	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	278						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TTTGCCCATGGGTTTCAGGAG	0.547000														88			19		1.45105e-14	1.70617e-14	1	1	0
FAN1	22909	broad.mit.edu	37	15	31202973	31202973	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31202973C>A	uc001zff.3	+	3	1823	c.1532C>A	c.(1531-1533)aCt>aAt	p.T511N	FAN1_uc001zfc.3_Missense_Mutation_p.T511N|FAN1_uc010azw.2_Missense_Mutation_p.T511N|FAN1_uc001zfd.3_Missense_Mutation_p.T511N|FAN1_uc001zfe.3_Missense_Mutation_p.T116N	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	511					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	p.T511N(2)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						TCAGTCTGCACTTGGGGCAAG	0.413000								Direct reversal of damage						75			18		5.3912e-06	5.69533e-06	1	1	0
FAT4	79633	broad.mit.edu	37	4	126240358	126240358	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240358G>T	uc003ifj.4	+	0	2792	c.2792G>T	c.(2791-2793)aGt>aTt	p.S931I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	931	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTACTCTATAGTCTGAAGCAA	0.473000														78			22		6.32553e-13	7.33687e-13	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126736699	126736699	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126736699C>T	uc003ejg.3	+	17	3624	c.3624C>T	c.(3622-3624)tgC>tgT	p.C1208C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1208	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AACTGCTGTGCGAGGCGCCCA	0.657000														149			35		0	0	1	0	0
FRMD8	83786	broad.mit.edu	37	11	65172384	65172384	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65172384C>T	uc001odu.4	+	9	1313	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	FRMD8_uc009yqj.3_Missense_Mutation_p.A318V|FRMD8_uc010rof.2_Missense_Mutation_p.A340V	NM_031904	NP_114110	Q9BZ67	FRMD8_HUMAN	Homo sapiens FERM domain containing 8 (FRMD8), mRNA.	374	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CTGAGCCAGGCGGCGGAGCCC	0.687000														150			18		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99781355	99781355	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781355A>G	uc003ppj.4	-	2	754	c.471T>C	c.(469-471)gtT>gtC	p.V157V	FAXC_uc003ppi.4_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	157																	CTGTGCCAGAAACTTTTTCAT	0.373000														65			23		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39851459	39851459	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39851459G>A	uc021olw.1	+	20	9522	c.9522G>A	c.(9520-9522)gaG>gaA	p.E3174E	MACF1_uc021ols.1_Silent_p.E2672E|MACF1_uc001cdc.2_Silent_p.E2651E|MACF1_uc021olt.1_Silent_p.E2672E|MACF1_uc001cda.1_Silent_p.E2559E	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4739					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTGACTTGGAGCAGTTAGACC	0.502000														105			7		0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092306	147092306	+	Missense_Mutation	SNP	G	T	T	rs34002844		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147092306G>T	uc001epq.3	+	7	3085	c.2345G>T	c.(2344-2346)aGa>aTa	p.R782I	BCL9_uc010ozr.1_Missense_Mutation_p.R708I	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	782	Pro-rich.		R -> K (in dbSNP:rs34002844).		Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGGGCCCCAGACCATTCCTT	0.582000			T	"""IGH@, IGL@"""	B-ALL									79			11		3.07112e-06	3.25591e-06	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40275428	40275428	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40275428G>T	uc003cka.3	+	11	2119	c.1984G>T	c.(1984-1986)Gga>Tga	p.G662*	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Intron|MYRIP_uc010hhw.3_Nonsense_Mutation_p.G573*|MYRIP_uc011ayz.2_Nonsense_Mutation_p.G475*|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	662	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GTTGATAGCAGGATCTACAGG	0.512000														94			10		2.17888e-05	2.28139e-05	1	1	0
C8A	731	broad.mit.edu	37	1	57383318	57383318	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57383318T>G	uc001cyo.2	+	10	1816	c.1684T>G	c.(1684-1686)Tgt>Ggt	p.C562G		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	562	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GAGAAGAGAGTGTGACAATCC	0.577000														107			11		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116417899	116417899	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116417899C>A	uc021pyx.1	-	0	160	c.61G>T	c.(61-63)Gtc>Ttc	p.V21F	ABLIM1_uc021pyw.1_Missense_Mutation_p.V21F|ABLIM1_uc021pyy.1_Intron|ABLIM1_uc021pyz.1_Intron|ABLIM1_uc021pza.1_Intron|ABLIM1_uc021pzf.1_Intron|ABLIM1_uc001lbz.1_Intron	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	21					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GATGAGGTGACTTTGCTTTTC	0.527000														168			29		7.16026e-08	7.77809e-08	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206165326	206165326	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206165326C>T	uc002var.2	+	16	2465	c.2258C>T	c.(2257-2259)gCa>gTa	p.A753V	PARD3B_uc010fub.2_Missense_Mutation_p.A753V|PARD3B_uc002vao.2_Missense_Mutation_p.A753V|PARD3B_uc002vap.2_Missense_Mutation_p.A691V|PARD3B_uc002vaq.2_Intron	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	753					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTGCAGACTGCAGTGGCCGAG	0.532000														258			55		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904329	180904329	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904329C>T	uc001gok.2	+	4	1351	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	KIAA1614_uc001gol.1_Silent_p.S49S|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	428										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCACACGAGCGATTCCTCCA	0.677000														38			14		0	0	1	0	0
CCR7	1236	broad.mit.edu	37	17	38711511	38711511	+	Missense_Mutation	SNP	G	A	A	rs141181444	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38711511G>A	uc002huw.3	-	2	695	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	207					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				GCATCGCATCGCTTGCTCACT	0.572000														73			13		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073579	135073579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073579C>T	uc004cbh.2	+	2	1216	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	147	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.T147M(2)|p.P146I(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GGCCGGCCCACGGTCATGGTC	0.642000														134			21		0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196227349	196227349	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196227349G>T	uc001gtd.1	-	25	3246	c.3186C>A	c.(3184-3186)caC>caA	p.H1062Q	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.H995Q|KCNT2_uc001gtf.1_Missense_Mutation_p.H1038Q|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.H566Q	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1062						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AAAGACCCAAGTGTTTCATTC	0.378000														88			34		1.21669e-08	1.33778e-08	1	1	0
TOP2B	7155	broad.mit.edu	37	3	25672321	25672321	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25672321A>G	uc011awn.1	-	10	1419	c.1376T>C	c.(1375-1377)aTt>aCt	p.I459T	TOP2B_uc003cdj.2_Missense_Mutation_p.I454T|TOP2B_uc021wug.1_Missense_Mutation_p.I454T	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	459					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CAGTTTGGGAATACCTTTGAT	0.299000														45			7		0	0	1	0	0
H1FNT	341567	broad.mit.edu	37	12	48723547	48723547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48723547G>A	uc001rrm.3	+	0	785	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	158	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CGGAGGCGCCGCCAGCCCCTT	0.716000														24			8		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25467030	25467030	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25467030C>A	uc002rgc.3	-	14	2102	c.1845G>T	c.(1843-1845)caG>caT	p.Q615H	DNMT3A_uc002rgd.3_Missense_Mutation_p.Q615H|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.Q426H	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	615					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.Q615*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCACAAATTCCTGGTCGTGGT	0.637000			"""Mis, F, N, S"""		AML									106			57		1.00798e-23	1.24953e-23	1	1	0
EXO1	9156	broad.mit.edu	37	1	242030154	242030154	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242030154G>A	uc021plj.1	+	8	1378	c.1064G>A	c.(1063-1065)aGt>aAt	p.S355N	EXO1_uc001hzh.3_Missense_Mutation_p.S355N|EXO1_uc009xgq.3_Missense_Mutation_p.S355N|EXO1_uc021plk.1_Missense_Mutation_p.S355N	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	355	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGAAGTCATAGTTGGGATGAC	0.368000								Editing and processing nucleases						115			39		0	0	1	0	0
DDRGK1	65992	broad.mit.edu	37	20	3175985	3175985	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3175985C>T	uc002wic.3	-	4	547	c.525G>A	c.(523-525)agG>agA	p.R175R	DDRGK1_uc010gax.1_Silent_p.R175R	NM_023935	NP_076424	Q96HY6	DDRGK_HUMAN	Homo sapiens DDRGK domain containing 1 (DDRGK1), mRNA.	175						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						CGCGGGCCTTCCTCTCCTCCT	0.607000														137			31		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24651000	24651000	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24651000G>A	uc001wmv.1	-	26	3878	c.2857C>T	c.(2857-2859)Cga>Tga	p.R953*	IPO4_uc001wmt.1_Nonsense_Mutation_p.R431*|IPO4_uc001wmu.2_Nonsense_Mutation_p.R615*|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Nonsense_Mutation_p.R817*|IPO4_uc001wmy.1_Nonsense_Mutation_p.R817*|IPO4_uc001wmz.2_Nonsense_Mutation_p.R953*	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	953					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CGATCATGTCGCTCCCGCGCC	0.612000														108			24		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878579	151878579	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878579T>C	uc003wla.3	-	35	6585	c.6366A>G	c.(6364-6366)atA>atG	p.I2122M	MLL3_uc003wkz.3_Missense_Mutation_p.I1183M	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2122	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGGCCTTGATATGGTTCCAG	0.483000			N		medulloblastoma									121			25		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102765260	102765260	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102765260C>A	uc001ksj.3	+	3	1284	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	LZTS2_uc010qpw.2_Missense_Mutation_p.L372M|LZTS2_uc001ksk.3_Missense_Mutation_p.L372M|LZTS2_uc001ksl.3_Missense_Mutation_p.L372M|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	372					Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GCGTGAGGCCCTGCGAGAGGA	0.657000														102			24		6.32553e-13	7.33687e-13	1	1	0
GRPEL1	80273	broad.mit.edu	37	4	7062915	7062915	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062915C>T	uc003gjy.1	-	3	369	c.328G>A	c.(328-330)Gac>Aac	p.D110N	GRPEL1_uc003gjz.1_3'UTR	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	Homo sapiens GrpE-like 1, mitochondrial (E. coli) (GRPEL1), nuclear gene encoding mitochondrial protein, mRNA.	110					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TCCAACAAGTCCTTGCAGAAG	0.468000														168			10		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19166262	19166262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19166262C>T	uc001bba.1	-	5	2352	c.2351G>A	c.(2350-2352)aGc>aAc	p.S784N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	784					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGCACCCCGCTGTAGGCAGA	0.567000														70			15		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139818087	139818087	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139818087G>T	uc003lfs.2	+	2	656	c.502G>T	c.(502-504)Gat>Tat	p.D168Y	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.D168Y|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.D157Y|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.D168Y	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	168						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTTTTGCAGATCCTGAGGT	0.433000														247			32		3.99451e-17	4.78557e-17	1	1	0
WNK4	65266	broad.mit.edu	37	17	40940387	40940387	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40940387C>A	uc002ibj.3	+	9	2070	c.2002C>A	c.(2002-2004)Ctc>Atc	p.L668I	WNK4_uc010wgx.2_Missense_Mutation_p.L332I|WNK4_uc002ibk.1_Missense_Mutation_p.L440I|WNK4_uc010wgy.1_Missense_Mutation_p.L12I	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	668					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGGAGGAATCTCCGGCGCAG	0.567000														92			14		2.61681e-11	2.97614e-11	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48267277	48267277	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267277G>T	uc001ngs.1	+	0	622	c.622G>T	c.(622-624)Gca>Tca	p.A208S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GGTCCTCTTAGCATCCTATAT	0.517000														203			40		2.75727e-19	3.34553e-19	1	1	0
IRX1	79192	broad.mit.edu	37	5	3596479	3596479	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3596479G>T	uc003jde.3	+	0	312	c.260G>T	c.(259-261)aGc>aTc	p.S87I		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGGATCTCAGCCTCTTCTCG	0.721000														18			4		1.024e-07	1.11136e-07	1	1	0
MLL3	58508	broad.mit.edu	37	7	151842259	151842259	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842259T>C	uc003wla.3	-	53	14372	c.14153A>G	c.(14152-14154)cAt>cGt	p.H4718R	MLL3_uc003wkz.3_Missense_Mutation_p.H3836R|MLL3_uc003wkx.3_Missense_Mutation_p.H876R|MLL3_uc003wky.3_Missense_Mutation_p.H2282R	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4718					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CCTCTTGACATGGGCACTCAT	0.443000			N		medulloblastoma									101			26		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100779051C>T	uc003uxt.3	+	6	1204	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_uc011kkj.2_Silent_p.N337N|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	352					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582000														112			21		0	0	1	0	0
WBP2	23558	broad.mit.edu	37	17	73844721	73844721	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73844721G>A	uc002jps.3	-	3	450	c.327C>T	c.(325-327)tcC>tcT	p.S109S	WBP2_uc010wsl.2_Silent_p.S75S|WBP2_uc010wsm.2_Silent_p.S109S|WBP2_uc010wsn.1_Intron|WBP2_uc021ude.1_5'Flank	NM_012478	NP_036610	Q969T9	WBP2_HUMAN	Homo sapiens WW domain binding protein 2 (WBP2), mRNA.	109							protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCAACTTGTAGGAAGCAGAGC	0.517000											OREG0024743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		50			7		0	0	1	0	0
CNP	1267	broad.mit.edu	37	17	40125661	40125661	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40125661G>A	uc002hyl.1	+	3	1129	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CNP_uc010wfz.1_Missense_Mutation_p.A206T|CNP_uc002hym.1_Missense_Mutation_p.A309T|CNP_uc010wga.1_Missense_Mutation_p.A94T	NM_033133	NP_149124	P09543	CN37_HUMAN	Homo sapiens 2',3'-cyclic nucleotide 3' phosphodiesterase (CNP), mRNA.	329					RNA metabolic process|cell killing|cyclic nucleotide catabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		GGGGAGCCGCGCCCACATCAC	0.652000														169			36		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632164	169632164	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632164C>T	uc003qwt.3	-	13	2310	c.2062G>A	c.(2062-2064)Ggg>Agg	p.G688R		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	688	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGATGAGCCCGTCGCCCGCG	0.637000														187			52		0	0	1	0	0
BACH1	571	broad.mit.edu	37	21	30698591	30698591	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30698591A>G	uc002ynk.3	+	2	689	c.446A>G	c.(445-447)cAc>cGc	p.H149R	BACH1_uc002ynj.3_Missense_Mutation_p.H149R|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	149						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTTTCATCACACTGTCAGAAA	0.373000														97			13		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18057690	18057690	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18057690C>A	uc001mnp.2	-	2	144	c.118_splice	c.e2-1	p.E40_splice	TPH1_uc009yhe.2_Splice_Site	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	40	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	CATGCTTCTCCTGTGTAAAGC	0.353000														38			8		0.27861	0.278893	1	1	0
PRSS16	10279	broad.mit.edu	37	6	27219749	27219749	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219749G>A	uc003nja.3	+	7	953	c.938G>A	c.(937-939)gGa>gAa	p.G313E	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	313					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAGCTCTGCGGACTTCTCCTC	0.687000														36			8		0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39972597	39972597	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39972597C>A	uc002olu.1	+	1	625	c.492C>A	c.(490-492)agC>agA	p.S164R	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	61	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCCAGCTATGCCAAAA	0.622000														288			60		9.53978e-28	1.19623e-27	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124274538	124274538	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124274538G>A	uc001uft.4	+	10	1527	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	DNAH10_uc010tav.1_5'UTR|DNAH10_uc010taw.1_5'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R501H(1)|p.R319H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GACCCCAAGCGCATTGATGAT	0.463000														232			49		0	0	1	0	0
C18orf1	753	broad.mit.edu	37	18	13387753	13387753	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13387753C>A	uc002ksa.2	+	2	700	c.32C>A	c.(31-33)gCt>gAt	p.A11D	C18orf1_uc002ksb.2_Missense_Mutation_p.A11D	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	11						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		GCCACAAATGCTTTCACAGGT	0.577000														127			34		1.22384e-17	1.4705e-17	1	1	0
PRRC2B	84726	broad.mit.edu	37	9	134363345	134363345	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134363345G>T	uc004can.4	+	26	6142	c.6087G>T	c.(6085-6087)caG>caT	p.Q2029H	PRRC2B_uc004cao.4_Missense_Mutation_p.Q1386H|PRRC2B_uc004cap.4_Missense_Mutation_p.Q174H|SNORD62A_uc004car.3_5'Flank|PRRC2B_uc011mch.2_5'Flank	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2029							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGGCATGCAGCCCTTGGAGA	0.642000														52			10		2.17888e-05	2.28139e-05	1	1	0
TMEM110-MUSTN1	100526772	broad.mit.edu	37	3	52877775	52877775	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52877775G>T	uc003dgc.4	-	5	711	c.580C>A	c.(580-582)Ctg>Atg	p.L194M	TMEM110-MUSTN1_uc003dgb.4_5'Flank|TMEM110-MUSTN1_uc003dgd.3_Missense_Mutation_p.L194M	NM_001198974	NP_001185903			Homo sapiens TMEM110-MUSTN1 readthrough (TMEM110-MUSTN1), mRNA.																		ACGATGGCCAGCTTCAAGTCT	0.532000														165			33		1.36615e-20	1.66935e-20	1	1	0
THBS4	7060	broad.mit.edu	37	5	79373958	79373958	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79373958G>A	uc021yaw.1	+	16	2364	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	725					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAACGCAGAGGTCACCCTGAC	0.592000														52			11		0	0	1	0	0
FCGR1B	2210	broad.mit.edu	37	1	120930255	120930255	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120930255C>T	uc001eip.3	-	3	396	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	FCGR1B_uc010oxl.2_Non-coding_Transcript|FCGR1B_uc001eiq.3_Missense_Mutation_p.E24K|FCGR1B_uc009whr.2_Missense_Mutation_p.E116K|FCGR1B_uc009whs.2_Missense_Mutation_p.E117K	NM_001017986	NP_001017986	Q92637	FCGRB_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ib, receptor (CD64) (FCGR1B), transcript variant 1, mRNA.	116	Ig-like C2-type 2.				interferon-gamma-mediated signaling pathway	integral to membrane|plasma membrane	IgG binding|immunoglobulin receptor activity			breast(1)|endometrium(1)|lung(2)	4	all_neural(166;0.181)	all_lung(203;7.27e-05)|Lung NSC(69;0.000389)|all_epithelial(167;0.068)		Lung(183;0.0327)|LUSC - Lung squamous cell carcinoma(189;0.19)		GGTTCTCCTTCCATGAAGACT	0.463000														188			49		0	0	1	0	0
HLX	3142	broad.mit.edu	37	1	221057562	221057562	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221057562G>A	uc001hmv.4	+	3	1440	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	328					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		CAGAACCGGCGGATGAAGTGG	0.637000														73			25		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801223	148801223	+	Missense_Mutation	SNP	C	A	A	rs143783393		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801223C>A	uc003wfj.3	-	3	1873	c.1740G>T	c.(1738-1740)aaG>aaT	p.K580N		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	580					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACGCGAAGGGCTTCTCGTCCC	0.597000														124			28		4.22769e-11	4.79992e-11	1	1	0
FAM129B	64855	broad.mit.edu	37	9	130270429	130270429	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270429C>T	uc004brh.3	-	11	1687	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A	FAM129B_uc004bri.3_Silent_p.A482A|FAM129B_uc004brj.4_Silent_p.A495A	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	495							protein binding	p.A495V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TCTGCAGCAGCGCCTCCCGGA	0.617000														164			31		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106691796	106691796	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106691796G>A	uc021ser.1	-	1156		c.25197C>T								Parts of antibodies, mostly variable regions.																		CGTAGTATATGTAACTACTAC	0.512000														377			70		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440179	40440179	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440179G>A	uc003gvc.2	-	3	1442	c.732C>T	c.(730-732)acC>acT	p.T244T	RBM47_uc003gvd.2_Silent_p.T244T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.T206T|RBM47_uc003gvg.1_Silent_p.T244T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	244						nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGATCTTCACGGTCTCCATCA	0.627000														289			54		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36108727	36108727	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36108727A>C	uc003jkb.1	-	15	2221	c.1806T>G	c.(1804-1806)cgT>cgG	p.R602R		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	602						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTGTCCATAACGTTCTTTCC	0.303000														33			7		0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85570385	85570385	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85570385C>T	uc002spd.3	-	10	2004	c.1813G>A	c.(1813-1815)Gca>Aca	p.A605T	RETSAT_uc010fge.3_Non-coding_Transcript|RETSAT_uc010ysm.2_Missense_Mutation_p.A544T	NM_017750	NP_060220	Q6NUM9	RETST_HUMAN	Homo sapiens retinol saturase (all-trans-retinol 13,14-reductase) (RETSAT), mRNA.	605					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCTTCTGTGCCCGGATCCTA	0.512000														205			20		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	33996020	33996020	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33996020G>A	uc003oir.4	-	8	2929	c.2566C>T	c.(2566-2568)Cgc>Tgc	p.R856C	GRM4_uc011dsn.2_Missense_Mutation_p.R809C|GRM4_uc010jvh.3_Missense_Mutation_p.R856C|GRM4_uc010jvi.3_Missense_Mutation_p.R548C|GRM4_uc003oio.3_Missense_Mutation_p.R548C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R716C|GRM4_uc003oiq.3_Missense_Mutation_p.R723C|GRM4_uc011dsm.2_Missense_Mutation_p.R687C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	856					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CTGCGCTTGCGCTTGGGCACG	0.602000														229			58		0	0	1	0	0
HNRNPA0	10949	broad.mit.edu	37	5	137089524	137089524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089524C>T	uc003lbt.3	-	0	516	c.232G>A	c.(232-234)Gag>Aag	p.E78K	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	78	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGCTTCAGCTCCACAGTGTTG	0.652000														254			11		0	0	1	0	0
HERC5	51191	broad.mit.edu	37	4	89425454	89425454	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89425454G>A	uc003hrt.3	+	20	2807	c.2654G>A	c.(2653-2655)cGg>cAg	p.R885Q	HERC5_uc011cdm.2_Missense_Mutation_p.R523Q	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN	Homo sapiens hect domain and RLD 5 (HERC5), mRNA.	885	HECT.				ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	p.R885W(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GAAGAATTTCGGAGAGGATTT	0.323000														94			18		0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192711348	192711348	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192711348T>C	uc002utb.3	-	0	659	c.304A>G	c.(304-306)Aag>Gag	p.K102E		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	102						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCCTGGTACTTGGAGAGCTTG	0.597000														114			26		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808780	48808780	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808780G>T	uc002rwp.2	+	1	1122	c.1008G>T	c.(1006-1008)gaG>gaT	p.E336D	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E336D|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.E336D|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.E336D|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E336D	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	336					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAAGGTTGAGAACTTCAGTG	0.368000														170			29		3.1745e-13	3.69426e-13	1	1	0
ZNF850	342892	broad.mit.edu	37	19	37239046	37239046	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37239046T>C	uc010efc.3	-	4	3055	c.2896A>G	c.(2896-2898)Aca>Gca	p.T966A	ZNF850_uc010xtm.2_Missense_Mutation_p.T932A	NM_001193552	NP_001180481	A8MQ14	ZN850_HUMAN	Homo sapiens zinc finger protein 850 (ZNF850), mRNA.	966					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GTAAGGTGTGTACGCTGTCTG	0.433000														5			4		0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681855	142681855	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142681855G>A	uc003evg.3	-	0	324	c.324C>T	c.(322-324)agC>agT	p.S108S	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	Homo sapiens progestin and adipoQ receptor family member IX (PAQR9), mRNA.	108						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						CGTCGCCGCCGCTCAGGAAGA	0.627000														78			19		0	0	1	0	0
GPR132	29933	broad.mit.edu	37	14	105517442	105517442	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105517442G>A	uc001yqd.3	-	3	1931	c.1032C>T	c.(1030-1032)acC>acT	p.T344T	GPR132_uc001yqc.3_Silent_p.T156T|GPR132_uc001yqe.3_Silent_p.T335T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	344					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GCAGCTCCTCGGTGTCCCTGC	0.607000														149			9		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100965573	100965573	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100965573G>A	uc011lvb.2	-	9	2448	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	TBC1D2_uc004ayp.3_Silent_p.S296S|TBC1D2_uc004ayq.3_Silent_p.S756S|TBC1D2_uc004ayr.3_Silent_p.S538S	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	756	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CACTTACCTGGGATGCCGTCA	0.582000														210			43		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212180785	212180785	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212180785G>A	uc001hiw.2	-	5	786	c.563C>T	c.(562-564)gCg>gTg	p.A188V	INTS7_uc001hix.2_Missense_Mutation_p.A64V|INTS7_uc009xdb.2_Missense_Mutation_p.A188V|INTS7_uc001hiy.2_Missense_Mutation_p.A188V|INTS7_uc010pta.2_Missense_Mutation_p.A139V	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	188					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TACTGGTGTCGCTAAACCTAG	0.383000														91			11		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35967781	35967781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35967781G>A	uc003olm.3	-	3	544	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	SLC26A8_uc003oll.3_Nonsense_Mutation_p.Q145*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.Q145*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	145					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ATGGACATTTGATGACACGAT	0.403000														220			28		0	0	1	0	0
ZNF264	9422	broad.mit.edu	37	19	57716805	57716805	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57716805G>T	uc002qob.3	+	2	615	c.201G>T	c.(199-201)gaG>gaT	p.E67D		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GCCACCTAGAGCATGGGCAGG	0.522000														26			6		0.00116845	0.00119477	1	1	0
NEK10	152110	broad.mit.edu	37	3	27326096	27326096	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326096C>T	uc003cdt.2	-	22	2285	c.2011G>A	c.(2011-2013)Gtt>Att	p.V671I	NEK10_uc003cds.1_Missense_Mutation_p.V68I	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	671	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TACTTACTAACGGTTACTTTG	0.378000														71			13		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16450991	16450991	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16450991C>A	uc003cay.3	-	4	615	c.333_splice	c.e4-1	p.R111_splice	RFTN1_uc010hes.3_Splice_Site_p.R75_splice	NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	111						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTTCTGAGATCTGAAGAGAAA	0.438000														100			23		2.89027e-11	3.28353e-11	1	1	0
RYR3	6263	broad.mit.edu	37	15	34078040	34078040	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34078040G>T	uc001zhi.3	+	65	9516	c.9446G>T	c.(9445-9447)gGt>gTt	p.G3149V	RYR3_uc010bar.3_Missense_Mutation_p.G3149V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3149					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGGGAGCGGGGTCCTGAGAAC	0.572000														313			67		1.17004e-41	1.4888e-41	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204032000	204032000	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204032000C>A	uc002uzt.3	+	36	6160	c.5827C>A	c.(5827-5829)Ctc>Atc	p.L1943I	NBEAL1_uc021vvj.1_Missense_Mutation_p.L646I	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1943							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGAGATTCATCTCCGGCGTTA	0.363000														124			24		1.1804e-14	1.38988e-14	1	1	0
FGD1	2245	broad.mit.edu	37	X	54496845	54496845	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496845G>A	uc004dtg.3	-	3	1439	c.705C>T	c.(703-705)agC>agT	p.S235S	FGD1_uc011moi.1_5'UTR	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	235	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGACCTGGGCTGGGGCCAG	0.642000														50			16		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70224261	70224261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70224261G>A	uc001opo.3	+	25	3725	c.3510G>A	c.(3508-3510)atG>atA	p.M1170I	PPFIA1_uc001opn.2_Missense_Mutation_p.M1170I|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_Missense_Mutation_p.M309I|PPFIA1_uc001ops.3_Missense_Mutation_p.M209I|AK125463_uc001opt.1_Intron	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	1170					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTTCTTCTATGTCTTCCCCCT	0.498000														146			30		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81385228	81385228	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81385228A>G	uc002fgo.3	+	1	356	c.208A>G	c.(208-210)Act>Gct	p.T70A		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	70	BTB.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				TGATGGATCAACTTATAAGAT	0.328000														88			27		0	0	1	0	0
SH3RF3	344558	broad.mit.edu	37	2	110065683	110065683	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110065683G>A	uc010ywt.1	+	7	1886	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	629							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCACCCCTGCGCACCCAGAAC	0.662000														65			7		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67938201	67938201	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67938201C>A	uc004dxb.3	+	5	1659	c.1445C>A	c.(1444-1446)gCt>gAt	p.A482D	STARD8_uc004dxa.3_Missense_Mutation_p.A402D|STARD8_uc004dxc.4_Missense_Mutation_p.A402D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	402					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CAGGAAGAGGCTGAggccccg	0.687000														63			11		9.70103e-10	1.08264e-09	1	1	0
SIN3B	23309	broad.mit.edu	37	19	16977334	16977334	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16977334C>T	uc002ney.2	+	12	1892	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	SIN3B_uc002nez.2_Silent_p.S591S|SIN3B_uc010xpi.1_Silent_p.S181S	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	623					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCTCCAAGAGCTTGCTCAACG	0.622000														149			24		0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74994458	74994458	+	Missense_Mutation	SNP	C	T	T	rs148019407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74994458C>T	uc001owe.2	-	4	451	c.227G>A	c.(226-228)cGc>cAc	p.R76H	ARRB1_uc001owf.2_Missense_Mutation_p.R76H	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	76	Interaction with CHRM2 (By similarity).|Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction|positive regulation of histone acetylation|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	Golgi membrane|chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	GTPase activator activity|angiotensin receptor binding|enzyme inhibitor activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.R76C(1)		breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CAGGTCCTTGCGAAAGGTCAG	0.642000														117			21		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031382	32031382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031382C>T	uc011axg.2	+	1	1360	c.811C>T	c.(811-813)Cga>Tga	p.R271*	ZNF860_uc021wuv.1_Nonsense_Mutation_p.R271*	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAATCAGAAGCGATACCTTGC	0.368000														98			17		0	0	1	0	0
KRT33A	3883	broad.mit.edu	37	17	39503321	39503321	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39503321C>T	uc002hwk.1	-	3	779	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622000														126			12		0	0	1	0	0
LIMD1	8994	broad.mit.edu	37	3	45637385	45637385	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45637385G>T	uc003coq.3	+	0	1063	c.1014G>T	c.(1012-1014)caG>caT	p.Q338H		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	338					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTGGTTCCAGGATGGGCCCA	0.617000														173			29		3.73148e-12	4.28986e-12	1	1	0
CADPS2	93664	broad.mit.edu	37	7	122091518	122091518	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122091518A>G	uc022akp.1	-	13	2608	c.2186T>C	c.(2185-2187)aTt>aCt	p.I729T	CADPS2_uc003vkg.4_Missense_Mutation_p.I430T|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.I730T|CADPS2_uc022akr.1_Missense_Mutation_p.I733T	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	733					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AACAGTCCCAATTCCATCAGG	0.284000														26			4		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786740	121786740	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786740T>G	uc003ksw.1	+	9	2404	c.2198T>G	c.(2197-2199)tTt>tGt	p.F733C	SNCAIP_uc011cwl.1_Missense_Mutation_p.F291C|SNCAIP_uc003ksy.1_Missense_Mutation_p.F367C|SNCAIP_uc003ksx.1_Missense_Mutation_p.F780C|SNCAIP_uc003ksz.1_Missense_Mutation_p.F367C|SNCAIP_uc010jcu.2_Missense_Mutation_p.F329C|SNCAIP_uc011cwm.1_Missense_Mutation_p.F367C|SNCAIP_uc003kta.1_Missense_Mutation_p.F365C|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.F427C|SNCAIP_uc010jcx.1_Missense_Mutation_p.F673C|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.F249C	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	733					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GGACGCAGGTTTCCTTTCAGC	0.542000														91			22		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7682770	7682770	+	Missense_Mutation	SNP	C	A	A	rs146396908	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682770C>A	uc021pmv.1	-	3	454	c.348G>T	c.(346-348)aaG>aaT	p.K116N	ITIH5_uc001ijr.2_Missense_Mutation_p.K116N	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	116	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CACCACTCTTCTTTTCTCTCT	0.373000														144			17		1.67942e-08	1.84125e-08	1	1	0
KIAA1324L	222223	broad.mit.edu	37	7	86537040	86537040	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86537040A>G	uc011kha.2	-	17	2689	c.2504T>C	c.(2503-2505)gTg>gCg	p.V835A	KIAA1324L_uc003uie.3_Missense_Mutation_p.V668A|KIAA1324L_uc011kgz.2_Missense_Mutation_p.V721A|KIAA1324L_uc003uif.2_Missense_Mutation_p.V587A	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	835						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTCATTTTCACAGCAGTTGA	0.343000														71			13		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269055	123269055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269055C>T	uc003vku.1	+	9	1299	c.1007C>T	c.(1006-1008)aCt>aTt	p.T336I	ASB15_uc003vkw.1_Missense_Mutation_p.T336I	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	336					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GATGTCAACACTCTACTTGCT	0.433000														152			26		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185153444	185153444	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185153444T>C	uc001grg.4	+	7	1322	c.1208T>C	c.(1207-1209)tTt>tCt	p.F403S	SWT1_uc001grh.4_Missense_Mutation_p.F403S	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	403	PINc.									breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CATCTCAAATTTGTTAGAATT	0.269000														28			20		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146264761	146264761	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146264761T>G	uc003qlf.3	-	8	2155	c.1756A>C	c.(1756-1758)Aaa>Caa	p.K586Q	SHPRH_uc003qle.3_Missense_Mutation_p.K586Q|SHPRH_uc003qlg.1_Missense_Mutation_p.K142Q|SHPRH_uc003qlj.1_Missense_Mutation_p.K475Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	586					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CTTTTTCCTTTTTTTGTGGAT	0.373000														133			32		0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141511891	141511891	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141511891C>A	uc003lmi.4	+	2	482	c.266C>A	c.(265-267)cCt>cAt	p.P89H	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	89					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACTATCCCTTTGGTTCCT	0.423000														131			38		2.04263e-09	2.27038e-09	1	1	0
SLC38A7	55238	broad.mit.edu	37	16	58711301	58711301	+	Silent	SNP	G	A	A	rs111704627	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58711301G>A	uc002eod.1	-	5	1032	c.639C>T	c.(637-639)taC>taT	p.Y213Y	SLC38A7_uc002eoc.1_Silent_p.Y213Y|SLC38A7_uc010vil.1_Silent_p.Y124Y|SLC38A7_uc002eoe.1_Silent_p.Y213Y	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	213					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TGGCTGTGACGTACCAGGTAC	0.557000														133			15		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61987229	61987229	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61987229C>A	uc001vid.4	-	1	1367	c.1003G>T	c.(1003-1005)Gtg>Ttg	p.V335L	PCDH20_uc010thj.2_Missense_Mutation_p.V335L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGGGTGCCCACTGTAGCATTC	0.458000														137			27		2.49534e-26	3.11803e-26	1	1	0
NCF2	4688	broad.mit.edu	37	1	183546760	183546760	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183546760G>T	uc001gqj.4	-	2	615	c.340C>A	c.(340-342)Ctc>Atc	p.L114I	NCF2_uc010pod.2_Missense_Mutation_p.L114I|NCF2_uc010poe.2_Missense_Mutation_p.L114I|NCF2_uc001gqk.4_Missense_Mutation_p.L114I	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	114					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TTGAACTGGAGCCCCAGGATC	0.517000														120			26		7.26314e-15	8.55724e-15	1	1	0
FOXD2	2306	broad.mit.edu	37	1	47904305	47904305	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47904305G>T	uc001crm.3	+	0	2617	c.498G>T	c.(496-498)gaG>gaT	p.E166D		NM_004474	NP_004465	O60548	FOXD2_HUMAN	Homo sapiens forkhead box D2 (FOXD2), mRNA.	166					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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			lung(4)	4				READ - Rectum adenocarcinoma(2;0.0908)		ACTACCGGGAGAAGTTCCCCG	0.627000														228			34		4.34311e-12	4.98405e-12	1	1	0
FHOD3	80206	broad.mit.edu	37	18	34310720	34310720	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34310720G>A	uc021uiv.1	+	19	3626	c.3529G>A	c.(3529-3531)Gcc>Acc	p.A1177T	FHOD3_uc002kzs.1_Missense_Mutation_p.A1002T|FHOD3_uc002kzt.1_Missense_Mutation_p.A985T|FHOD3_uc010dmz.1_Missense_Mutation_p.A717T|FHOD3_uc010dnb.1_5'UTR	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	985	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GATTAAGATCGCCATTTTGAA	0.398000														117			10		0	0	1	0	0
FIGNL2	401720	broad.mit.edu	37	12	52215946	52215946	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52215946G>A	uc001rzc.3	-	1	424	c.252C>T	c.(250-252)agC>agT	p.S84S		NM_001013690	NP_001013712	A6NMB9	FIGL2_HUMAN	Homo sapiens fidgetin-like 2 (FIGNL2), mRNA.	84							ATP binding|nucleoside-triphosphatase activity								BRCA - Breast invasive adenocarcinoma(357;0.135)		AGGAGGCGTCGCTGTACCCGC	0.647000														40			15		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27480702	27480702	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27480702G>T	uc002dov.2	-	31	5024	c.4984C>A	c.(4984-4986)Ctc>Atc	p.L1662I	GTF3C1_uc002dou.3_Missense_Mutation_p.L1662I	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1662						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTGGGGTTGAGGTTGCGGGTG	0.637000														48			11		5.50884e-06	5.8131e-06	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235345456	235345456	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235345456A>G	uc021pks.1	-	19	3155	c.2778T>C	c.(2776-2778)gaT>gaC	p.D926D	ARID4B_uc001hwq.3_Silent_p.D926D|ARID4B_uc001hwr.3_Silent_p.D840D|ARID4B_uc001hws.4_Silent_p.D840D|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Silent_p.D607D	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TTGACCAGACATCTTTTCGAT	0.423000														170			50		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128505667	128505667	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128505667C>T	uc003qbk.3	-	6	1439	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	PTPRK_uc010kfc.3_Missense_Mutation_p.E358K|PTPRK_uc003qbj.3_Missense_Mutation_p.E358K|PTPRK_uc011ebu.2_Missense_Mutation_p.E358K|PTPRK_uc003qbl.1_Missense_Mutation_p.E228K|PTPRK_uc011ebv.1_Missense_Mutation_p.E358K	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	358	Fibronectin type-III 1.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTCATATTCGGTATCTGGA	0.458000														215			41		0	0	1	0	0
IFFO1	25900	broad.mit.edu	37	12	6664931	6664931	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6664931C>T	uc010sfe.2	-	0	319	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	IFFO1_uc001qpc.2_Missense_Mutation_p.A89T|IFFO1_uc001qpf.2_Missense_Mutation_p.A89T|IFFO1_uc001qpe.2_Non-coding_Transcript	NM_001193457	NP_001180386	Q0D2I5	IFFO1_HUMAN	Homo sapiens intermediate filament family orphan 1 (IFFO1), transcript variant 5, mRNA.	89						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						TGCACCTTGGCCAGGAAGCAG	0.687000														130			14		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88930603	88930603	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88930603T>C	uc001kei.4	+	5	1949	c.1835T>C	c.(1834-1836)gTa>gCa	p.V612A	FAM35A_uc001kej.4_5'UTR	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	612										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						CCAGAGGCAGTATACAGTTAT	0.393000														72			15		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737755	152737755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152737755G>A	uc021zhb.1	-	38	6040	c.5817C>T	c.(5815-5817)atC>atT	p.I1939I	SYNE1_uc003qot.4_Silent_p.I1946I|SYNE1_uc003qou.4_Silent_p.I1939I|SYNE1_uc010kjb.1_Silent_p.I1922I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1939					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAGAGCTCCCGATTTTCAGAT	0.493000										HNSCC(10;0.0054)				138			31		0	0	1	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458364	20458364	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20458364C>A	uc002zsd.4	-	0	3423	c.2938G>T	c.(2938-2940)Ggc>Tgc	p.G980C	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CTGGAGAGGCCCTGCTTCCCC	0.587000														64			4		0.00307968	0.00313564	1	1	0
PEX1	5189	broad.mit.edu	37	7	92122335	92122335	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92122335G>A	uc003uly.3	-	19	3235	c.3139C>T	c.(3139-3141)Ctg>Ttg	p.L1047L	PEX1_uc011khr.2_Silent_p.L839L|PEX1_uc010ley.3_Silent_p.L990L|PEX1_uc011khs.2_Silent_p.L725L	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1047					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AAAGCTTTCAGATCAGCTCCA	0.423000														112			35		0	0	1	0	0
CHCHD7	79145	broad.mit.edu	37	8	57129954	57129954	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57129954G>A	uc003xsv.3	+	4	464	c.293G>A	c.(292-294)aGa>aAa	p.R98K	CHCHD7_uc003xsu.3_Missense_Mutation_p.R85K|CHCHD7_uc003xss.3_3'UTR|CHCHD7_uc003xst.3_3'UTR|CHCHD7_uc003xsx.3_Missense_Mutation_p.R73K|CHCHD7_uc003xsw.3_3'UTR	NM_001011668	NP_001011671	Q9BUK0	CHCH7_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 7 (CHCHD7), transcript variant 2, mRNA.	73									CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GCAGCAGAAAGAGATGAAATC	0.343000			T	PLAG1	salivary adenoma									71			18		0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228197205	228197205	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228197205C>T	uc002vos.3	+	4	742	c.330C>T	c.(328-330)ccC>ccT	p.P110P	MFF_uc002vot.3_Silent_p.P84P|MFF_uc002vow.3_Silent_p.P84P|MFF_uc002voy.3_Silent_p.P110P|MFF_uc021vxu.1_Silent_p.P84P|MFF_uc002voz.3_Silent_p.P84P	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	110						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CCTTTAAACCCCTGGCACTGA	0.398000														285			102		0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150726957	150726957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150726957G>A	uc003lty.3	-	0	195	c.65C>T	c.(64-66)tCg>tTg	p.S22L	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.S22L|SLC36A2_uc011dct.1_Missense_Mutation_p.S22L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	22					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGAGGCGACATAAGGTC	0.488000														374			38		0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130919411	130919411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919411G>A	uc001uil.2	-	10	2286	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	RIMBP2_uc001uim.3_Silent_p.S598S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	690						cell junction|synapse		p.S690G(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTAGGAAGACGCTCCTTTTCT	0.597000														165			38		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147680400	147680400	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147680400T>C	uc003qlz.3	+	22	2661	c.2486T>C	c.(2485-2487)cTg>cCg	p.L829P	STXBP5_uc010khz.2_Missense_Mutation_p.L793P|STXBP5_uc003qly.3_Missense_Mutation_p.L484P	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	829					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTCATTGCACTGAACCTTCCC	0.483000														125			19		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71683709	71683709	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71683709C>T	uc002fax.3	-	17	3062	c.3056G>A	c.(3055-3057)aGc>aAc	p.S1019N	PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Missense_Mutation_p.S952N|PHLPP2_uc021tkv.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	1019	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACAGCCATAGCTCTGCGCTAA	0.493000														317			71		0	0	1	0	0
ANKFY1	51479	broad.mit.edu	37	17	4085524	4085524	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4085524C>T	uc002fxn.3	-	14	2316	c.2199G>A	c.(2197-2199)ccG>ccA	p.P733P	ANKFY1_uc002fxo.3_Silent_p.P692P|ANKFY1_uc002fxp.3_Silent_p.P690P|ANKFY1_uc010ckp.3_Silent_p.P633P|ANKFY1_uc002fxq.1_Silent_p.P691P	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	691						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CAAGCCACAGCGGGGGGTTCC	0.542000														236			61		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116937895	116937895	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116937895G>A	uc003viz.3	-	3	924	c.624C>T	c.(622-624)tgC>tgT	p.C208C	WNT2_uc003vja.3_Silent_p.C112C	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	208					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCACCCCGTGGCACTTGCACT	0.547000														219			41		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133341974	133341974	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133341974C>T	uc003eps.3	-	18	3271	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	TOPBP1_uc003ept.1_Missense_Mutation_p.A51T	NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1047					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TTTGATGGTGCTGACTCTTTA	0.274000								Other conserved DNA damage response genes						51			7		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75673487	75673487	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75673487C>T	uc001jwa.3	+	6	797	c.651C>T	c.(649-651)tgC>tgT	p.C217C	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.C200C|PLAU_uc010qkx.2_Silent_p.C131C|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.C217C|PLAU_uc009xrq.1_Silent_p.C181C	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	217	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity	p.P216R(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TCAGCCCTTGCTGGGTGATCA	0.607000														159			38		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20156834	20156834	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156834G>T	uc002gwq.3	+	9	2725	c.2615G>T	c.(2614-2616)aGc>aTc	p.S872I	SPECC1_uc002gws.3_Missense_Mutation_p.S872I|SPECC1_uc002gwv.3_Missense_Mutation_p.S791I|SPECC1_uc010vzf.2_Missense_Mutation_p.S212I	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	872						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TCGACTTACAGCAGTGTGCGG	0.488000														62			11		4.36969e-10	4.89342e-10	1	1	0
LRRC52	440699	broad.mit.edu	37	1	165513649	165513649	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165513649G>A	uc001gde.2	+	0	172	c.116G>A	c.(115-117)tGc>tAc	p.C39Y	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	39	LRRNT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAAGTAATCTGCACAGGGAAG	0.502000														227			12		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720792	146720792	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720792C>T	uc010khw.1	+	7	3087	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	GRM1_uc010khv.1_Missense_Mutation_p.L873F|GRM1_uc003qll.2_Missense_Mutation_p.L873F|GRM1_uc011edz.1_Missense_Mutation_p.L873F|GRM1_uc011eea.1_Missense_Mutation_p.L873F	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	873					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAACACTTTCCTCAACATCTT	0.517000														55			12		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135117335	135117335	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135117335G>A	uc004cbh.2	+	7	2206	c.1430G>A	c.(1429-1431)tGc>tAc	p.C477Y		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	477					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CGCTGCGCCTGCCCGCGCGGC	0.761000														24			6		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44622685	44622685	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44622685T>G	uc002oyj.1	+	3	436	c.193T>G	c.(193-195)Ttt>Gtt	p.F65V	ZNF225_uc010ejf.1_Missense_Mutation_p.F65V	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGAAAAGTTTTGGATGAT	0.428000														65			14		0	0	1	0	0
ASIC5	51802	broad.mit.edu	37	4	156764950	156764950	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156764950G>A	uc003ipe.1	-	4	791	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	248						integral to membrane|plasma membrane											CAGCATCAACGAAACCAAGGG	0.413000														91			20		0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17601069	17601069	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17601069C>T	uc002zmb.2	-	0	1145	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CECR6_uc002zma.2_Intron|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	317	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		ATAAGCCAGGCCAGGTAGGCG	0.731000														163			43		0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29152515	29152515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29152515C>T	uc002rmo.2	+	10	1408	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	Y_RNA_uc021vfi.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	459						nucleolus		p.I458I(1)|p.T502M(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GACCTCCAGACGAATAGCTTT	0.353000														48			20		0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46345746	46345746	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46345746G>A	uc002pdn.3	-	9	1093	c.848_splice	c.e9-1	p.A283_splice	SYMPK_uc002pdo.1_Splice_Site_p.A283_splice|SYMPK_uc002pdp.1_Splice_Site_p.A283_splice|SYMPK_uc002pdq.2_Splice_Site_p.A283_splice	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	283					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGGGCAGGTTGGCTGTGAGGA	0.557000														167			30		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97268076	97268076	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97268076C>T	uc002swn.4	-	19	2406	c.2260_splice	c.e19-1	p.A754_splice	KANSL3_uc002swh.4_Splice_Site_p.A640_splice|KANSL3_uc002swi.4_Splice_Site_p.A681_splice|KANSL3_uc002swj.4_Intron|KANSL3_uc002swk.4_Splice_Site_p.A667_splice|KANSL3_uc010fhz.3_Splice_Site_p.A574_splice|KANSL3_uc002swl.4_Splice_Site_p.A653_splice|KANSL3_uc002swm.4_Intron|KANSL3_uc010yur.2_Splice_Site_p.A548_splice|KANSL3_uc002swo.3_Splice_Site_p.A102_splice	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	780	Ser-rich.																CACTGGTGGCCTGTGGGACAC	0.557000														32			5		0	0	1	0	0
RBM4B	83759	broad.mit.edu	37	11	66436255	66436255	+	Missense_Mutation	SNP	C	T	T	rs149014922	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66436255C>T	uc001oja.3	-	1	1589	c.920G>A	c.(919-921)cGt>cAt	p.R307H	RBM4B_uc001ojb.3_Missense_Mutation_p.R307H	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA.	307	Interaction with TNPO3 (By similarity).				RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing	nucleolus	RNA binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						TGCAGCACGACGCAGTGGGCT	0.567000														158			31		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56651207	56651207	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56651207C>T	uc010xeg.2	+	9	3612	c.3415C>T	c.(3415-3417)Ccc>Tcc	p.P1139S	ZNF532_uc002lhp.3_Missense_Mutation_p.P1137S|ZNF532_uc002lho.3_Missense_Mutation_p.P1139S|ZNF532_uc002lhr.3_Missense_Mutation_p.P1137S|ZNF532_uc002lhs.3_Missense_Mutation_p.P1137S|ZNF532_uc010xeh.2_Missense_Mutation_p.P227S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	1139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGAAAGGTCCCCAGTCCCAA	0.453000														109			20		0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19625951	19625951	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19625951C>A	uc002nmr.3	-	0	519	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	96	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						TGCAGCAGGTCGGTGGCGGCC	0.657000														199			32		1.06801e-11	1.22009e-11	1	1	0
GEMIN8	54960	broad.mit.edu	37	X	14038477	14038477	+	Missense_Mutation	SNP	G	T	T	rs137990246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14038477G>T	uc004cwb.3	-	3	535	c.192C>A	c.(190-192)agC>agA	p.S64R	GEMIN8_uc004cwc.3_Missense_Mutation_p.S64R|GEMIN8_uc004cwd.3_Missense_Mutation_p.S64R	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	64					spliceosomal snRNP assembly	Cajal body|SMN complex|cytoplasm|spliceosomal complex	protein binding	p.Q63K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TATCGTAAGAGCTTTGGGGAA	0.498000														191			48		5.2432e-18	6.31706e-18	1	1	0
ZNF101	94039	broad.mit.edu	37	19	19789533	19789533	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19789533A>C	uc002nni.2	+	3	241	c.131_splice	c.e3-2	p.G44_splice	ZNF101_uc010ecg.2_Splice_Site|ZNF101_uc002nnj.2_Splice_Site	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TCTACATTTTAGGAATCCAAT	0.358000														36			9		0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141524156	141524156	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141524156G>T	uc003lmi.4	+	6	799	c.583G>T	c.(583-585)Gga>Tga	p.G195*	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	195					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTTCTCAGAGGATTTATCAA	0.343000														135			25		6.12954e-19	7.42566e-19	1	1	0
CHST6	4166	broad.mit.edu	37	16	75513648	75513648	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75513648A>T	uc021tlj.1	-	0	79	c.79T>A	c.(79-81)Tcc>Acc	p.S27T	CHST6_uc002fef.3_Missense_Mutation_p.S27T|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.S27T	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	27					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTGGCCGGGAAACCAGAAAG	0.687000														36			11		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107016608	107016608	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:107016608C>T	uc001kyi.1	+	24	3596	c.3369C>T	c.(3367-3369)agC>agT	p.S1123S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1123						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTGGGCACAGCAGCTCAGCCA	0.428000														49			10		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094040	79094040	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094040C>T	uc010dia.3	-	10	3776	c.3696G>A	c.(3694-3696)gtG>gtA	p.V1232V	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.V1129V	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1232						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CGAAGAAGGACACGGCCTTCT	0.677000														90			16		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703719	52703719	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703719G>T	uc001cto.3	+	3	802	c.630G>T	c.(628-630)gaG>gaT	p.E210D	ZFYVE9_uc001ctn.3_Missense_Mutation_p.E210D|ZFYVE9_uc001ctp.3_Missense_Mutation_p.E210D	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	210					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TGAATTCAGAGAAACAAATGG	0.368000														104			34		8.16721e-17	9.7615e-17	1	1	0
IRX1	79192	broad.mit.edu	37	5	3600167	3600167	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600167G>A	uc003jde.3	+	1	1157	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	369						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTGCCACATCGGCAAGTTCTC	0.711000														49			9		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22840987	22840987	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22840987A>G	uc002yld.2	+	13	2028	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	NCAM2_uc011acb.2_Silent_p.E451E	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	593	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATCTAGGTGAACCAAGTCCTC	0.363000														86			12		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216424250	216424250	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216424250A>C	uc001hku.1	-	11	2549	c.2162T>G	c.(2161-2163)gTt>gGt	p.V721G	USH2A_uc001hkv.3_Missense_Mutation_p.V721G	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	721	Laminin EGF-like 4.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			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)		CGTACCAATAACGTTTGCTTT	0.403000										HNSCC(13;0.011)				61			14		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89885781	89885781	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89885781T>C	uc001tbc.3	-	3	751	c.384A>G	c.(382-384)gtA>gtG	p.V128V	GALNT4_uc001tba.3_Silent_p.V86V|GALNT4_uc001tbb.3_5'UTR|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Non-coding_Transcript	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0					carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACATGCTCCATACTTTTATGG	0.418000														91			8		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11415430	11415430	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11415430G>A	uc021zzo.1	-	27	5217	c.4965C>T	c.(4963-4965)gcC>gcT	p.A1655A	THSD7A_uc021zzn.1_Silent_p.A1653A|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_Silent_p.A159A	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1655						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTTACATGTCGGCATCTCCAT	0.408000										HNSCC(18;0.044)				104			17		0	0	1	0	0
CCM2	83605	broad.mit.edu	37	7	45109511	45109511	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45109511G>A	uc003tms.3	+	5	830	c.759G>A	c.(757-759)gcG>gcA	p.A253A	CCM2_uc003tmn.3_Non-coding_Transcript|CCM2_uc003tmo.3_Silent_p.A232A|CCM2_uc003tmp.3_Silent_p.A174A|CCM2_uc003tmr.3_Intron|CCM2_uc011kcb.2_Silent_p.A195A|CCM2_uc011kcc.2_Missense_Mutation_p.D180N	NM_001029835	NP_001025006	Q9BSQ5	CCM2_HUMAN	Homo sapiens cerebral cavernous malformation 2 (CCM2), transcript variant 1, mRNA.	232					endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis	cytoplasm	protein binding			NS(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						TGGACAGAGCGATATTTGATG	0.607000														186			29		0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73888881	73888881	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73888881G>A	uc002jpx.3	-	1	501	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	155						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGGCCTTCGGCCTGGGTGG	0.657000														80			20		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	229768	229768	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000192.1:229768G>A	uc010yij.1	-	14		c.2572C>T				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATCCATCTCGGGGGACTCTA	0.453000														98			29		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57116360	57116360	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57116360G>A	uc021tiu.1	+	47	5648	c.5521G>A	c.(5521-5523)Gcc>Acc	p.A1841T	NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_Missense_Mutation_p.A383T|NLRC5_uc002ekr.1_Missense_Mutation_p.A728T	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1841					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)				CTGCGACATGGCCCAGCACCT	0.567000														186			43		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	725803	725803	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:725803C>A	uc001lqt.3	+	16	1883	c.1636C>A	c.(1636-1638)Cta>Ata	p.L546I	EPS8L2_uc001lqu.3_Missense_Mutation_p.L546I|EPS8L2_uc010qwk.2_Missense_Mutation_p.L562I|EPS8L2_uc001lqv.3_Missense_Mutation_p.L501I|EPS8L2_uc001lqw.3_Missense_Mutation_p.L158I|EPS8L2_uc001lqx.3_Missense_Mutation_p.L158I|EPS8L2_uc001lqy.3_Missense_Mutation_p.L54I	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	546	SH3.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCAACATCCTAGGCGAGGC	0.766000														20			4		1.23904e-05	1.3016e-05	1	1	0
HDAC4	9759	broad.mit.edu	37	2	240048328	240048328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240048328G>A	uc002vyk.4	-	11	2134	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W	HDAC4_uc010fyz.1_Missense_Mutation_p.R443W|HDAC4_uc010zoa.1_Missense_Mutation_p.R448W|HDAC4_uc010fza.2_Missense_Mutation_p.R453W|HDAC4_uc010fyy.3_Missense_Mutation_p.R405W|HDAC4_uc010znz.1_Missense_Mutation_p.R331W|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	448					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGGGACACCCGGTCTGCACCA	0.637000														121			38		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235973135	235973135	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235973135A>C	uc001hxj.2	-	4	1158	c.983T>G	c.(982-984)tTt>tGt	p.F328C	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.F328C	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	328					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACTGTTCGAAAGAGCATCCT	0.448000														62			22		0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85890797	85890797	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85890797G>A	uc002sqj.3	-	7	982	c.882C>T	c.(880-882)agC>agT	p.S294S	SFTPB_uc002sqi.3_Silent_p.S294S|SFTPB_uc002sqh.3_Silent_p.S294S|SFTPB_uc010ysw.1_5'Flank	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	282					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TTGGGCCAGCGCTGTCATCCA	0.662000														32			15		0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32262200	32262200	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32262200C>T	uc001bts.1	-	9	2320	c.2262G>A	c.(2260-2262)gaG>gaA	p.E754E	SPOCD1_uc001btu.3_Silent_p.E754E|SPOCD1_uc001btv.3_Silent_p.E247E|SPOCD1_uc021oks.1_Silent_p.E60E|SPOCD1_uc001btw.1_Silent_p.E98E	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	754					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		ccaccaGATCCTCCAGGGTCA	0.602000														174			17		0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112095820	112095820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095820G>A	uc003vgh.3	+	2	567	c.97G>A	c.(97-99)Ggc>Agc	p.G33S	IFRD1_uc011kmn.2_5'UTR|IFRD1_uc003vgi.3_Missense_Mutation_p.G33S|IFRD1_uc003vgj.3_Missense_Mutation_p.G33S|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_5'UTR	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	33					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CCTAATAGGTGGCCAGCATCG	0.338000														75			17		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9863881	9863881	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9863881C>T	uc004csu.1	+	3	2023	c.1933C>T	c.(1933-1935)Cgg>Tgg	p.R645W		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	645					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCAGAAGAGCCGGAGCACAGT	0.667000														52			15		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23222070	23222070	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23222070A>G	uc009vqj.1	+	7	1842	c.1697A>G	c.(1696-1698)aAc>aGc	p.N566S	EPHB2_uc001bge.3_Missense_Mutation_p.N566S|EPHB2_uc001bgf.3_Missense_Mutation_p.N566S|EPHB2_uc010odu.2_Intron	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	566					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)		ATCGTGTGTAACAGGTGGGTG	0.577000														134			7		0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62384603	62384603	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62384603G>A	uc001ntw.3	-	2	702	c.474C>T	c.(472-474)gtC>gtT	p.V158V	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Silent_p.V151V|B3GAT3_uc010rlz.2_Silent_p.V158V	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	158					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						TCCGCTGCTCGACACCACGGG	0.672000														157			24		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15299878	15299878	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15299878C>T	uc002nan.3	-	7	1376	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	NOTCH3_uc002nao.1_Missense_Mutation_p.E434K	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	434	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E434K(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GACAGACACTCGTTGACATCG	0.647000														113			45		0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3192496	3192496	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3192496G>A	uc002lxi.3	+	1	367	c.213G>A	c.(211-213)gaG>gaA	p.E71E	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	71					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAACACGGAGGCGCGCACGA	0.697000														75			15		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7731317	7731317	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7731317A>G	uc003gkb.4	+	22	2986	c.2986A>G	c.(2986-2988)Acc>Gcc	p.T996A	SORCS2_uc011bwi.2_Missense_Mutation_p.T824A	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	996						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCGCAGGAGACCAGCGTCCC	0.627000														19			5		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114385222	114385222	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114385222G>T	uc009zwi.2	-	10	1468	c.1324C>A	c.(1324-1326)Ccc>Acc	p.P442T	RBM19_uc001tvn.4_Missense_Mutation_p.P442T|RBM19_uc001tvm.3_Missense_Mutation_p.P442T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	442	RRM 3.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					AAACCCTTGGGTTTCTTGGTC	0.602000														169			8		0.00307968	0.00313564	1	1	0
SERTAD2	9792	broad.mit.edu	37	2	64863943	64863943	+	Silent	SNP	G	A	A	rs78389198	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863943G>A	uc021viq.1	-	0	63	c.63C>T	c.(61-63)atC>atT	p.I21I	SERTAD2_uc002sde.2_Silent_p.I21I	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	21					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						AGGGAGACACGATTTTGCCTT	0.468000														216			41		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003857	119003857	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003857G>A	uc001pvp.3	+	9	1311	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	HINFP_uc021qrj.1_Missense_Mutation_p.R356Q|HINFP_uc001pvq.3_Missense_Mutation_p.R356Q|HINFP_uc001pvr.3_Missense_Mutation_p.R109Q	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	356					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	p.R356Q(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGCTTCACACGGGGCAACAAC	0.542000														224			57		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110734632	110734632	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110734632C>A	uc003puc.3	-	1	122	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C	METTL24_uc003pub.2_5'Flank|DDO_uc003pud.3_Missense_Mutation_p.G40C	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	12					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CCCACCACACCTGCCCCGACA	0.522000														288			61		7.37877e-41	9.38348e-41	1	1	0
GCG	2641	broad.mit.edu	37	2	163003925	163003925	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163003925C>T	uc002ucc.3	-	2	448	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	64					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	AGTCCAGATACTTGCTGTAGT	0.483000														275			91		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133187774	133187774	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133187774G>A	uc003ytj.3	-	4	1084	c.859C>T	c.(859-861)Cca>Tca	p.P287S	KCNQ3_uc003yti.3_Missense_Mutation_p.P167S|KCNQ3_uc010mdt.3_Missense_Mutation_p.P287S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	287					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCCACCTCTGGGACGTCTTTC	0.502000														116			22		0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14593528	14593528	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14593528G>A	uc002myt.3	-	3	531	c.261C>T	c.(259-261)gcC>gcT	p.A87A	GIPC1_uc002myv.3_Intron|GIPC1_uc002myu.3_Silent_p.A87A|GIPC1_uc002myw.3_Intron|GIPC1_uc002myx.3_Silent_p.A87A|GIPC1_uc002myy.3_Intron	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	87					G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GGAAGGCCTCGGCGATCTTGC	0.652000														59			16		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134996942	134996942	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134996942C>T	uc001llz.1	+	3	456	c.455C>T	c.(454-456)gCg>gTg	p.A152V	KNDC1_uc001lma.1_Missense_Mutation_p.A87V	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	152	KIND 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GACCTCGAGGCGCTGCTGAGC	0.697000														29			5		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35454098	35454098	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35454098T>C	uc002hnm.3	-	53	6804	c.6613A>G	c.(6613-6615)Atc>Gtc	p.I2205V	ACACA_uc002hnk.3_Missense_Mutation_p.I2127V|ACACA_uc002hnl.3_Missense_Mutation_p.I2147V|ACACA_uc002hnn.3_Missense_Mutation_p.I2205V|ACACA_uc002hno.3_Missense_Mutation_p.I2242V|ACACA_uc010cuy.3_Missense_Mutation_p.I850V|ACACA_uc010wdb.2_Missense_Mutation_p.I243V|ACACA_uc010wdc.2_Missense_Mutation_p.I331V	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2205					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CAATCCAGGATATCCTACATG	0.483000														80			15		0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	21998636	21998636	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21998636G>A	uc001rfh.3	-	23	3017	c.2997C>T	c.(2995-2997)ttC>ttT	p.F999F	ABCC9_uc001rfi.1_Silent_p.F999F	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	999	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGCTTAGAGAAAATCATCA	0.448000														80			16		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78897351	78897351	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78897351C>T	uc002jyt.1	+	22	3491	c.2686C>T	c.(2686-2688)Ccg>Tcg	p.P896S	RPTOR_uc010wug.1_Missense_Mutation_p.P738S	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	896					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GGCCAAGCAGCCGGTCAGCCG	0.652000														116			23		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70586298	70586298	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70586298A>G	uc004dzu.4	+	0	185	c.134A>G	c.(133-135)aAc>aGc	p.N45S	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.N45S	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	45	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTTTTCGGCAACATCAATGGA	0.612000														60			18		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99008415	99008415	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99008415C>A	uc010fij.3	+	6	808	c.667C>A	c.(667-669)Ctt>Att	p.L223I	CNGA3_uc002syt.3_Missense_Mutation_p.L219I|CNGA3_uc002syu.3_Missense_Mutation_p.L201I			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	219			R -> W (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTTGGATGTGCTTGTACGAGC	0.597000														115			21		3.62473e-10	4.06567e-10	1	1	0
ILF3	3609	broad.mit.edu	37	19	10787961	10787961	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10787961A>C	uc002mpn.3	+	4	851	c.534A>C	c.(532-534)gaA>gaC	p.E178D	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.E178D|ILF3_uc002mpl.2_Missense_Mutation_p.E178D|ILF3_uc002mpk.2_Missense_Mutation_p.E178D|ILF3_uc002mpo.3_Missense_Mutation_p.E178D|ILF3_uc002mpp.3_5'UTR	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	178	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTGTCAGAGAAGAAATGGAGA	0.463000														98			18		0	0	1	0	0
BMP8B	656	broad.mit.edu	37	1	40229424	40229424	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40229424C>T	uc001cdz.1	-	4	1284	c.908G>A	c.(907-909)cGg>cAg	p.R303Q	BMP8B_uc001cea.1_Missense_Mutation_p.R328Q|PPIE_uc001cdw.3_3'UTR|PPIE_uc001cdv.3_3'UTR	NM_001720	NP_001711	P34820	BMP8B_HUMAN	Homo sapiens bone morphogenetic protein 8b (BMP8B), mRNA.	303					cartilage development|cell differentiation|growth|ossification	extracellular space	cytokine activity|growth factor activity			endometrium(1)|liver(1)|ovary(1)|urinary_tract(1)	4	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GAGCTCGTGCCGACGGCAGAC	0.557000														238			27		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76248892	76248892	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76248892G>T	uc010ask.2	+	25	2895	c.2620G>T	c.(2620-2622)Gaa>Taa	p.E874*	TTLL5_uc001xrx.3_Nonsense_Mutation_p.E860*|TTLL5_uc001xrz.3_Nonsense_Mutation_p.E435*|TTLL5_uc001xsa.3_5'Flank|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	860					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACAGACGACAGAAATTCATTC	0.338000														46			10		1.58986e-06	1.69271e-06	1	1	0
TRAPPC10	7109	broad.mit.edu	37	21	45507691	45507691	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45507691C>T	uc002zea.3	+	16	2820	c.2651C>T	c.(2650-2652)tCt>tTt	p.S884F	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S595F|TRAPPC10_uc011afa.2_Intron|TRAPPC10_uc011afb.1_5'Flank	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	884					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GAAGTTCTCTCTTTACCTTCA	0.577000														108			34		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531016	140531016	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531016C>A	uc003lir.3	+	0	1178	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	393	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTACTAAGACCTTCCGTGGAG	0.468000														219			58		1.47633e-17	1.77338e-17	1	1	0
BAG5	9529	broad.mit.edu	37	14	104026472	104026472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104026472T>C	uc021seg.1	-	0	1030	c.1030A>G	c.(1030-1032)Aca>Gca	p.T344A	KLC1_uc010tyd.1_5'Flank|BAG5_uc001yni.2_Missense_Mutation_p.T344A|BAG5_uc001ynh.2_Missense_Mutation_p.T385A|BAG5_uc001ynj.2_Missense_Mutation_p.T344A|KLC1_uc010tyc.2_5'Flank	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	344	BAG 4.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCAATATATGTGATCAGAGTT	0.478000														177			47		0	0	1	0	0
UCHL5	51377	broad.mit.edu	37	1	193028799	193028799	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193028799C>A	uc001gsr.1	-	0	391	c.330G>T	c.(328-330)caG>caT	p.Q110H	UCHL5_uc001gsm.3_5'Flank|UCHL5_uc001gso.3_5'Flank|UCHL5_uc001gsn.3_5'Flank|UCHL5_uc010pov.2_5'Flank|UCHL5_uc001gsq.3_5'Flank|UCHL5_uc001gsp.3_5'Flank|UCHL5_uc010pow.1_5'UTR|UCHL5_uc010pox.2_5'Flank|SnoU109_uc021pgo.1_5'Flank|TROVE2_uc001gss.3_5'UTR|TROVE2_uc001gsu.2_5'UTR|TROVE2_uc001gsv.2_5'Flank|TROVE2_uc009wyp.3_5'Flank|TROVE2_uc001gsw.3_5'Flank|TROVE2_uc009wyq.3_5'Flank			Q9Y5K5	UCHL5_HUMAN	SubName: Full=Ubiquitin carboxyl-terminal hydrolase L5; SubName: Full=Uncharacterized protein; Flags: Fragment;	0					DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	Ino80 complex|cytosol|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						GTTGCTGTTGCTGTGGCTGTC	0.677000														29			9		5.4927e-09	6.0639e-09	1	1	0
MYH10	4628	broad.mit.edu	37	17	8445487	8445487	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8445487C>T	uc002glm.3	-	13	1639	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	MYH10_uc002gll.3_Missense_Mutation_p.E505K|MYH10_uc010cnx.3_Missense_Mutation_p.E514K	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	505	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AAGTTCCACTCGATGCCTTCG	0.473000														121			28		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2120560	2120560	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2120560C>T	uc002con.3	+	16	1926	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.A607V|TSC2_uc002coo.3_Missense_Mutation_p.A607V|TSC2_uc010uvv.2_Missense_Mutation_p.A570V|TSC2_uc010uvw.2_Missense_Mutation_p.A558V|TSC2_uc002cop.3_Missense_Mutation_p.A407V	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	607			A -> T.		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity	p.A607T(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAATCGCGAGCAGCATC	0.622000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					139			38		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171702066	171702066	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171702066T>C	uc002ugi.3	+	7	1224	c.802T>C	c.(802-804)Ttc>Ctc	p.F268L		NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	268					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CTACAAGTACTTCCCGGAAGT	0.517000														154			32		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838887	145838887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838887G>A	uc003lob.3	+	3	919	c.879G>A	c.(877-879)gcG>gcA	p.A293A	TCERG1_uc003loc.3_Silent_p.A293A|TCERG1_uc011dbt.2_Silent_p.A293A	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	293	Thr-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.A293V(2)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGTTGCGCAGACAGTAT	0.468000														197			52		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113588108	113588108	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113588108G>A	uc002tii.1	-	6	727	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423000														186			25		0	0	1	0	0
RMND5B	64777	broad.mit.edu	37	5	177569849	177569849	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569849T>C	uc011dgf.2	+	1	417	c.405T>C	c.(403-405)cgT>cgC	p.R135R	RMND5B_uc003mim.3_Intron|RMND5B_uc003min.3_Intron|RMND5B_uc003mio.3_Intron|RMND5B_uc003miq.3_Intron	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	95	LisH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCTTCGTCAGAACTTCG	0.602000														169			62		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34178927	34178927	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:34178927T>C	uc001rlm.3	+	2	818	c.499T>C	c.(499-501)Tgt>Cgt	p.C167R		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	167					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GTATTTGATGTGTCTTTATGG	0.338000														228			56		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418629	30418629	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418629A>C	uc002wwq.2	+	8	1334	c.1232A>C	c.(1231-1233)aAc>aCc	p.N411T	MYLK2_uc002wws.2_Missense_Mutation_p.N28T|MYLK2_uc010gdw.1_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	411	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGCCAGAGAACATCCTGTGT	0.622000														433			76		0	0	1	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713601	32713601	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32713601C>A	uc003obx.3	+	2	423	c.365C>A	c.(364-366)cCt>cAt	p.P122H		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	122	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity	p.P122L(2)		endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCAAGTTTCCTGTGACGCTG	0.507000														146			29		1.08312e-15	1.2841e-15	1	1	0
PRKAR2B	5577	broad.mit.edu	37	7	106762403	106762403	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106762403C>T	uc003vdx.3	+	2	525	c.350C>T	c.(349-351)gCa>gTa	p.A117V		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	117	Dimerization and phosphorylation.				G2/M transition of mitotic cell cycle|activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						ATAGTATGTGCAGAAGCTTAT	0.299000														26			6		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013655	99013655	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99013655C>T	uc010fij.3	+	7	2175	c.2034C>T	c.(2032-2034)gaC>gaT	p.D678D	CNGA3_uc002syt.3_Silent_p.D674D|CNGA3_uc002syu.3_Silent_p.D656D			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	674					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GTGGTGGGGACAAGCCCCTGG	0.552000														92			28		0	0	1	0	0
NAT8L	339983	broad.mit.edu	37	4	2065708	2065708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2065708G>A	uc003geq.2	+	2	763	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	255	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CAAGGTGGCCGCCCACAAGCT	0.662000														82			12		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55140704	55140704	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55140704G>A	uc003han.4	+	10	1896	c.1565G>A	c.(1564-1566)cGt>cAt	p.R522H	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R416H|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_5'Flank	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	522					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTAGCCCTGCGTTCTGAACTC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				125			22		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33559978	33559978	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33559978G>T	uc001rll.1	-	2	1120	c.823C>A	c.(823-825)Ctt>Att	p.L275I	SYT10_uc009zju.1_Missense_Mutation_p.L85I	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	275	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCTGGAAGAAGATACATCTTC	0.343000														48			10		1.76689e-08	1.93511e-08	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238285711	238285711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238285711C>T	uc002vwl.2	-	6	3059	c.2774G>A	c.(2773-2775)aGg>aAg	p.R925K	COL6A3_uc002vwo.2_Missense_Mutation_p.R719K|COL6A3_uc010znj.1_Missense_Mutation_p.R318K|COL6A3_uc002vwq.3_Missense_Mutation_p.R719K|COL6A3_uc002vwr.3_Missense_Mutation_p.R518K|COL6A3_uc010znk.1_Missense_Mutation_p.R725K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	925	Nonhelical region.|VWFA 5.				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)		AAAAATGTACCTCTGTGCATA	0.542000														150			31		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996106	10996106	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10996106C>T	uc002yis.1	-	11		c.2080G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGCCCAGTTCGACTTCTTTG	0.413000														102			9		0	0	1	0	0
HTATSF1	27336	broad.mit.edu	37	X	135581769	135581769	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581769T>G	uc004ezw.3	+	2	621	c.199T>G	c.(199-201)Ttc>Gtc	p.F67V	HTATSF1_uc004ezx.3_Missense_Mutation_p.F67V	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	67					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TACTGAAGATTTCATTGCTAC	0.388000														158			45		0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12032574	12032574	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12032574C>A	uc002gnj.3	+	8	1079	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	MAP2K4_uc002gnk.3_Missense_Mutation_p.S348Y|MAP2K4_uc010vvi.2_Missense_Mutation_p.S219Y|MAP2K4_uc010vvj.2_Missense_Mutation_p.S209Y	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	337	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		AGGGAATTCTCCCCGAGTTTC	0.428000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									105			6		0.0215528	0.0217347	1	1	0
CGB1	114335	broad.mit.edu	37	19	49539472	49539472	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49539472G>A	uc002plx.3	-	1	321	c.98C>T	c.(97-99)aCc>aTc	p.T33I	SNAR-G1_uc010emp.1_5'Flank	NM_033377	NP_203695	A6NKQ9	CGB1_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 1 (CGB1), mRNA.	65						extracellular region	hormone activity			liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CACAGCCAGGGTGGCATTGAT	0.672000														239			36		0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39534975	39534975	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39534975T>G	uc003xni.3	+	14	1606	c.1551T>G	c.(1549-1551)tgT>tgG	p.C517W	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.C493W	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	517	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATTTGCCTGTTTTAAAGAAG	0.328000														37			14		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54133798	54133798	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54133798G>A	uc002rxp.2	-	25	2936	c.2880C>T	c.(2878-2880)taC>taT	p.Y960Y	PSME4_uc010yop.1_Silent_p.Y846Y|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.Y335Y|PSME4_uc010fbv.1_Silent_p.Y104Y|PSME4_uc021vho.1_Silent_p.Y945Y	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	960					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTATCTTTTTGTATTCACAAC	0.358000														112			25		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453725	84453725	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84453725C>T	uc001vlk.3	-	0	2804	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	640						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)		AGGATAAACACGAGCATGCCC	0.562000														66			13		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390791	8390791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8390791G>A	uc001apb.3	+	3	1238	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	SLC45A1_uc001apc.3_Missense_Mutation_p.R111H	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	413					carbohydrate transport	integral to membrane	symporter activity	p.R413C(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCTACCGCCAGGACCGT	0.687000														138			7		0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112397143	112397143	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112397143G>A	uc003pvq.3	-	7	923	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_016262	NP_057346	Q9UJT0	TBE_HUMAN	Homo sapiens tubulin, epsilon 1 (TUBE1), mRNA.	270					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAATTACCTCGTTAGGTTGAG	0.333000														101			26		0	0	1	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073241	39073241	+	Silent	SNP	G	A	A	rs141609699		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39073241G>A	uc003ook.1	-	1	519	c.519C>T	c.(517-519)cgC>cgT	p.R173R	SAYSD1_uc003oom.2_Non-coding_Transcript	NM_018322	NP_060792	Q9NPB0	CF064_HUMAN	Homo sapiens SAYSVFN motif domain containing 1 (SAYSD1), mRNA.	173						integral to membrane											ACTGTAACTCGCGCTCCAACT	0.547000														187			41		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76131750	76131750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131750G>A	uc011kgk.1	+	6	1445	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	DTX2_uc003uff.4_Missense_Mutation_p.A456T|DTX2_uc003ufg.4_Missense_Mutation_p.A456T|DTX2_uc003ufh.4_Missense_Mutation_p.A456T|DTX2_uc003ufj.4_Missense_Mutation_p.A409T|DTX2_uc003ufk.4_Missense_Mutation_p.A87T|DTX2_uc003ufl.1_Missense_Mutation_p.A118T|DTX2_uc003ufm.4_Missense_Mutation_p.A169T|DTX2_uc003ufn.4_Missense_Mutation_p.A41T	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	456					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	p.R365C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GTGCCTCCTGGCCATGTACTG	0.662000														72			27		0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16623887	16623887	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16623887G>A	uc002neh.1	+	5	1775	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	MED26_uc002nee.2_Intron|C19orf44_uc002neg.3_Intron|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	568										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GACACCCATCGCCAATCATGT	0.572000														109			21		0	0	1	0	0
CCDC82	79780	broad.mit.edu	37	11	96092228	96092228	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:96092228C>T	uc001pfx.4	-	8	1709	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	CCDC82_uc009ywp.3_Missense_Mutation_p.E499K|CCDC82_uc009ywr.3_Missense_Mutation_p.E499K	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	499							protein binding	p.V498I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TGTTCATCTTCAACTTCTTCT	0.348000														88			22		0	0	1	0	0
NUP85	79902	broad.mit.edu	37	17	73221213	73221213	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73221213C>A	uc002jng.1	+	7	873	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	NUP85_uc010wrv.1_Missense_Mutation_p.L159M	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	205					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CATCTTGGTGCTGCAGGGCCG	0.652000														155			43		4.07013e-28	5.1081e-28	1	1	0
NAGK	55577	broad.mit.edu	37	2	71305565	71305565	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71305565G>T	uc002shr.3	+	8	2785	c.809G>T	c.(808-810)aGg>aTg	p.R270M	NAGK_uc002shp.4_Missense_Mutation_p.R367M|NAGK_uc002shq.4_Missense_Mutation_p.R172M			Q9UJ70	NAGK_HUMAN	Homo sapiens N-acetylglucosamine kinase (NAGK), mRNA.	321					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTAGGGGCCAGGCACATCGGG	0.617000														60			20		5.35267e-07	5.74308e-07	1	1	0
SPIN1	10927	broad.mit.edu	37	9	91083296	91083296	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91083296G>A	uc010mqj.3	+	4	865	c.365G>A	c.(364-366)cGa>cAa	p.R122Q	SPIN1_uc004apy.3_Missense_Mutation_p.R122Q|SPIN1_uc004apz.3_Missense_Mutation_p.R122Q|SPIN1_uc010mqk.3_Missense_Mutation_p.R122Q	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	Homo sapiens spindlin 1 (SPIN1), mRNA.	122					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						GCGACATCTCGAATCAGCGAT	0.413000														45			9		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482324	76482324	+	Silent	SNP	G	T	T	rs141022219	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76482324G>T	uc010dhp.2	-	44	7208	c.7083C>A	c.(7081-7083)ggC>ggA	p.G2361G		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGAACATGGCGCCACCGAAGG	0.622000														97			21		3.51602e-12	4.04451e-12	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140553378	140553378	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553378C>T	uc003lit.3	+	0	1136	c.962C>T	c.(961-963)gCc>gTc	p.A321V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	321	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A321P(1)|p.Q320H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTATTCAGGCCAAAGACGGC	0.423000														103			23		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23302059	23302059	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23302059T>C	uc003xdl.3	-	4	745	c.473A>G	c.(472-474)aAc>aGc	p.N158S	ENTPD4_uc011kzu.1_Missense_Mutation_p.N158S|ENTPD4_uc003xdm.3_Missense_Mutation_p.N158S|ENTPD4_uc011kzv.1_Missense_Mutation_p.N158S|ENTPD4_uc011kzw.1_Missense_Mutation_p.N124S	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	158					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		TGCAGCAAAGTTCAAAAGTGG	0.438000														111			41		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114292	10114292	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10114292C>A	uc002mmq.1	-	5	884	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	266	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTTCCTTGTTCTTTTTCCTGC	0.577000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			22		1.64293e-13	1.91604e-13	1	1	0
KIAA0195	9772	broad.mit.edu	37	17	73494598	73494598	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494598G>A	uc010wsa.2	+	27	3934	c.3742G>A	c.(3742-3744)Gcc>Acc	p.A1248T	KIAA0195_uc002jnz.4_Missense_Mutation_p.A1238T|KIAA0195_uc010wsb.2_Missense_Mutation_p.A878T|KIAA0195_uc002job.4_Missense_Mutation_p.A246T	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1238					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCACGGCCGCCCTGATTGT	0.632000														127			26		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78531042	78531042	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78531042C>T	uc001syp.3	+	18	4700	c.4527C>T	c.(4525-4527)ttC>ttT	p.F1509F	NAV3_uc001syo.3_Silent_p.F1509F|NAV3_uc010sub.2_Silent_p.F995F|NAV3_uc009zsf.3_Silent_p.F340F	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1509	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTCTTCCTTCGATCTCTATG	0.502000										HNSCC(70;0.22)				130			17		0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44371706	44371706	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44371706G>A	uc003oxl.3	+	5	1010	c.700G>A	c.(700-702)Gct>Act	p.A234T		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	234					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACTACCAAGCTCTTGACGC	0.383000														82			21		0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685563	47685563	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47685563C>T	uc001cqx.2	-	3	1402	c.825G>A	c.(823-825)gcG>gcA	p.A275A	TAL1_uc009vyq.2_Missense_Mutation_p.R32H|TAL1_uc001cqy.2_Silent_p.A275A	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	275					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity	p.G274G(1)		haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CATCTGGGGGCGCGccgcccc	0.701000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic									60			20		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97832996	97832996	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97832996C>T	uc003upd.2	+	11	4511	c.4218C>T	c.(4216-4218)tcC>tcT	p.S1406S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1406					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCATCAACTCCGAAAGCTCCA	0.532000														88			7		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418715	20418715	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418715A>G	uc003suu.3	+	3	1135	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E	ITGB8_uc011jyh.2_Missense_Mutation_p.K9E|ITGB8_uc003sut.3_Missense_Mutation_p.K144E	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	144					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCCTCTGAAGAAATATCCTGT	0.308000														65			19		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126294626	126294626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294626C>T	uc001qea.3	-	16	2547	c.2186G>A	c.(2185-2187)aGc>aAc	p.S729N	KIRREL3_uc001qeb.3_Missense_Mutation_p.S717N|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	729	Ser-rich.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		GCTGACGCTGCTGTCACACTG	0.622000														184			20		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151124015	151124015	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151124015G>A	uc004ffi.3	-	7	1016	c.962C>T	c.(961-963)aCc>aTc	p.T321I	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	321					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.T321I(1)|p.T208I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCAACGTGGTCATGGTCAG	0.498000														93			33		0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9676016	9676016	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9676016C>T	uc002qzu.3	-	3	580	c.397G>A	c.(397-399)Gat>Aat	p.D133N	ADAM17_uc010ewy.3_Missense_Mutation_p.D133N|ADAM17_uc010ewz.3_Intron|ADAM17_uc010exb.1_Missense_Mutation_p.D133N|ADAM17_uc002qzv.3_Missense_Mutation_p.D133N	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	133					B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		ACATCATCATCTCTTATGTGG	0.299000														60			4		0	0	1	0	0
FBXO21	23014	broad.mit.edu	37	12	117595739	117595739	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117595739G>A	uc001twk.3	-	9	1516	c.1477C>T	c.(1477-1479)Cgc>Tgc	p.R493C	FBXO21_uc001twj.3_Missense_Mutation_p.R486C|FBXO21_uc009zwq.3_Missense_Mutation_p.R426C	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	493					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TCATCGGAGCGCAGCTTCACC	0.587000														366			100		0	0	1	0	0
EBAG9	9166	broad.mit.edu	37	8	110569174	110569174	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110569174A>T	uc003ynf.3	+	4	567	c.332A>T	c.(331-333)aAg>aTg	p.K111M	EBAG9_uc010mcn.1_Non-coding_Transcript|EBAG9_uc003yng.3_Missense_Mutation_p.K111M	NM_198120	NP_936056	O00559	RCAS1_HUMAN	Homo sapiens estrogen receptor binding site associated, antigen, 9 (EBAG9), transcript variant 2, mRNA.	111					apoptosis|regulation of cell growth	Golgi membrane|focal adhesion|integral to membrane|soluble fraction	apoptotic protease activator activity	p.I110F(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			ATTGTTATTAAGAAGAGAGAA	0.313000														30			4		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649745	33649745	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33649745C>T	uc003jia.1	-	7	1411	c.1248G>A	c.(1246-1248)ccG>ccA	p.P416P	ADAMTS12_uc010iuq.1_Silent_p.P416P	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	416	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACATGATGTACGGATGTCTGC	0.557000										HNSCC(64;0.19)				125			18		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942172	144942172	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144942172G>A	uc003zaa.1	-	0	5263	c.5250C>T	c.(5248-5250)ccC>ccT	p.P1750P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1750						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.P1750P(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCGTCTCGGGGTCCTCCA	0.547000														157			40		0	0	1	0	0
EFS	10278	broad.mit.edu	37	14	23828965	23828965	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23828965G>A	uc001wjo.3	-	3	1330	c.722C>T	c.(721-723)gCa>gTa	p.A241V	EFS_uc001wjp.3_Missense_Mutation_p.A148V|EFS_uc010tnm.2_Intron	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	241	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		CTCCCCGTCTGCCAGCAGTTC	0.657000														184			55		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829086	115829086	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829086C>T	uc021osd.1	-	0	331	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	NGF_uc001efu.1_Missense_Mutation_p.A111T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	111					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TTGAAGGGGGCAGCACCACCG	0.587000														71			26		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512142	61512142	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512142G>A	uc002ydr.2	-	15	5478	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	DIDO1_uc002yds.2_Silent_p.D1722D	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1722					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGCTCTCTGTCCCCCTCTG	0.647000														272			61		0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28602223	28602223	+	Silent	SNP	C	T	T	rs1053570		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28602223C>T	uc002dqf.3	+	8	917	c.732C>T	c.(730-732)ttC>ttT	p.F244F	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	244	SGF29 C-terminal.				establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CTACCTGCTTCTACCGCGCCC	0.642000														63			10		0	0	1	0	0
RIPK3	11035	broad.mit.edu	37	14	24806143	24806143	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24806143C>A	uc001wpb.3	-	8	1494	c.1284G>T	c.(1282-1284)gaG>gaT	p.E428D	ADCY4_uc001wow.3_5'Flank|ADCY4_uc010toh.2_5'Flank|ADCY4_uc001wox.3_5'Flank|ADCY4_uc001woy.3_5'Flank|ADCY4_uc001woz.4_5'Flank|RIPK3_uc001wpa.3_Missense_Mutation_p.E228D|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_Missense_Mutation_p.E207D	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	428					apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGCCTTGTCTCTCAGCCCCCT	0.557000														166			40		1.00001e-27	1.25358e-27	1	1	0
EPHA1	2041	broad.mit.edu	37	7	143098600	143098600	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143098600G>A	uc003wcz.3	-	2	336	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	83						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)				AGATCCAATTGGAGCGAAGCC	0.602000														413			97		0	0	1	0	0
HLA-DPB2	3116	broad.mit.edu	37	6	33096509	33096509	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33096509A>C	uc003ocw.1	+	3		c.744A>C								Homo sapiens major histocompatibility complex, class II, DP beta 2 (pseudogene) (HLA-DPB2), non-coding RNA.																		CACGCACAGAAGGAGGAAGAA	0.522000														8			4		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27066137	27066137	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27066137C>T	uc002ylp.1	+	3	856	c.311C>T	c.(310-312)gCg>gTg	p.A104V	JAM2_uc011ace.1_Missense_Mutation_p.A104V|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.A68V	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	104	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.A104V(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGAAGTGATGCGGGGAAATAT	0.388000														119			22		0	0	1	0	0
TTC24	164118	broad.mit.edu	37	1	156552183	156552183	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156552183T>G	uc021pbf.1	+	2	903	c.867T>G	c.(865-867)taT>taG	p.Y289*		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	289							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCGGCAACTATCAGGAAGCTC	0.617000														62			16		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5239367	5239367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5239367C>T	uc003jdl.3	+	14	2396	c.2258C>T	c.(2257-2259)aCc>aTc	p.T753I	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T753I|ADAMTS16_uc010itk.1_Non-coding_Transcript	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	753	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGTCTCTACACCAAGCACCAC	0.512000														193			46		0	0	1	0	0
SERPINB9	5272	broad.mit.edu	37	6	2896327	2896327	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2896327G>A	uc003mug.3	-	2	387	c.266C>T	c.(265-267)gCc>gTc	p.A89V	AY927512_uc003mue.3_Intron	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	89					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	p.T88M(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GAGCCTGTTGGCCGTTCTCAG	0.443000														119			25		0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052203	66052203	+	Missense_Mutation	SNP	C	T	T	rs144345497		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66052203C>T	uc001ohk.4	-	7	969	c.787G>A	c.(787-789)Gtc>Atc	p.V263I		NM_020470	NP_065203	O95070	YIF1A_HUMAN	Homo sapiens Yip1 interacting factor homolog A (S. cerevisiae) (YIF1A), mRNA.	263					protein transport|vesicle-mediated transport	ER-Golgi intermediate compartment|Golgi membrane|centrosome|endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						TGCCGGGGGACGGGGCCCCCC	0.652000														93			22		0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24813505	24813505	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24813505C>T	uc003xee.3	-	0	627	c.525G>A	c.(523-525)caG>caA	p.Q175Q		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	175	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CATAGCGCGCCTGCAGGTTGC	0.716000														65			14		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165404219	165404219	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165404219A>G	uc002ucl.3	-	2	973	c.432T>C	c.(430-432)atT>atC	p.I144I	GRB14_uc010zcv.2_Silent_p.I57I	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	144	Ras-associating.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTGGTCATCAATGTAATGAT	0.428000														90			19		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93119069	93119069	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93119069C>A	uc001yap.3	+	5	1827	c.1675C>A	c.(1675-1677)Ctg>Atg	p.L559M	RIN3_uc010auk.3_Missense_Mutation_p.L221M|RIN3_uc001yaq.3_Missense_Mutation_p.L484M|RIN3_uc001yar.1_Missense_Mutation_p.L221M|RIN3_uc001yas.1_Missense_Mutation_p.L221M	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	559					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGAGGAGGAGCTGGAGCAGTT	0.612000														136			15		7.93312e-07	8.47869e-07	1	1	0
DERL1	79139	broad.mit.edu	37	8	124054334	124054334	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124054334C>T	uc003ypl.2	-	0	315	c.29G>A	c.(28-30)aGc>aAc	p.S10N	DERL1_uc003ypm.2_Missense_Mutation_p.S10N|DERL1_uc011lif.1_Missense_Mutation_p.S10N|DERL1_uc003ypn.2_Missense_Mutation_p.S10N	NM_024295	NP_077271	Q9BUN8	DERL1_HUMAN	Homo sapiens Der1-like domain family, member 1 (DERL1), transcript variant 1, mRNA.	10					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|intracellular transport of viral proteins in host cell|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	MHC class I protein binding|receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	8	Lung NSC(37;1.06e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCGGGATGCTCCTGAACCA	0.667000														72			13		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	665887	665887	+	Silent	SNP	C	T	T	rs139340276	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:665887C>T	uc001qii.1	+	14	2235	c.2235C>T	c.(2233-2235)gtC>gtT	p.V745V	B4GALNT3_uc001qik.1_Silent_p.V294V	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	745						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GGGAGGAGGTCGAGGCCCGGA	0.637000														82			24		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37427667	37427667	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37427667A>T	uc002ofc.3	+	4	673	c.155A>T	c.(154-156)gAt>gTt	p.D52V	ZNF568_uc010efg.3_Missense_Mutation_p.D52V|ZNF568_uc010xtn.2_5'UTR|ZNF568_uc021uts.1_Missense_Mutation_p.D52V|ZNF568_uc002ofd.3_5'UTR|ZNF568_uc010efe.3_5'UTR|ZNF568_uc010eff.2_Missense_Mutation_p.D38V	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTTAAGGATGTGGCTGTT	0.393000														106			18		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82416758	82416758	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82416758G>A	uc001dit.4	+	7	1730	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.D517N|LPHN2_uc001div.3_Missense_Mutation_p.D517N|LPHN2_uc009wcd.3_Missense_Mutation_p.D517N|LPHN2_uc001diw.3_Missense_Mutation_p.D88N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	517					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAGGGCCCCGATCTTAGCAA	0.423000														110			12		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108136980	108136980	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108136980C>T	uc004bcn.3	+	12	1817	c.1596C>T	c.(1594-1596)atC>atT	p.I532I	SLC44A1_uc004bco.1_Silent_p.I324I	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	532						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)	TGGCTACCATCAACACAGTAG	0.388000														135			30		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108523373	108523373	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108523373C>T	uc003kop.1	+	20	2950	c.2566_splice	c.e20+1		FER_uc011cvg.1_Splice_Site	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.						intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		ACATTACCTTCGACAGTCTTC	0.368000														20			3		0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762475	130762475	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130762475C>A	uc003qcb.3	+	1	3286	c.908C>A	c.(907-909)cCc>cAc	p.P303H	TMEM200A_uc003qca.3_Missense_Mutation_p.P303H|TMEM200A_uc010kfh.3_Missense_Mutation_p.P303H|TMEM200A_uc010kfi.3_Missense_Mutation_p.P303H|TMEM200A_uc021zfg.1_Missense_Mutation_p.P303H	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	303						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTGATGAGCCCAGTATAGAT	0.408000														121			14		0.00185496	0.00189487	1	1	0
ZNF419	79744	broad.mit.edu	37	19	58004803	58004803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58004803G>A	uc010ety.1	+	4	1121	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ZNF419_uc002qov.2_Missense_Mutation_p.G293E|ZNF419_uc010etz.1_Missense_Mutation_p.G281E|ZNF419_uc002qow.2_Missense_Mutation_p.G261E|ZNF419_uc010eua.1_Missense_Mutation_p.G280E|ZNF419_uc010eub.1_Missense_Mutation_p.G248E|ZNF419_uc010euc.1_Missense_Mutation_p.G247E	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AGTGAATGTGGAAAAGCTTTC	0.418000														101			22		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51223934	51223934	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51223934G>A	uc001wyi.3	-	17	4005	c.3814C>T	c.(3814-3816)Cgc>Tgc	p.R1272C	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.R1272C|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.R1272C	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1272					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)					TCATCGTAGCGTGTCTCCATC	0.443000			T	PDGFRB	MPD									225			46		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418379	74418379	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418379G>A	uc003dpm.1	-	6	987	c.907C>T	c.(907-909)Cga>Tga	p.R303*		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	303	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TTTTTTCCTCGTGAATTCTCA	0.398000														58			10		0	0	1	0	0
IGFBP2	3485	broad.mit.edu	37	2	217526595	217526595	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217526595G>A	uc021vwn.1	+	2	807	c.687G>A	c.(685-687)caG>caA	p.Q229Q	IGFBP2_uc010zju.2_3'UTR	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	229	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCTGCCAACAGGAACTGGACC	0.647000														79			21		0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726961	46726961	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46726961C>T	uc001nde.2	+	4	1992	c.1711C>T	c.(1711-1713)Cgc>Tgc	p.R571C	ZNF408_uc010rgw.2_Missense_Mutation_p.R563C	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCTCACGAGCGCCTGCACTC	0.652000														87			21		0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	143001775	143001775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143001775G>A	uc003wco.3	+	9	1367	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CASP2_uc003wcp.3_3'UTR|CASP2_uc011kta.2_Missense_Mutation_p.A260T|CASP2_uc003wcq.3_3'UTR|CASP2_uc011ktb.2_Missense_Mutation_p.A126T	NM_032982	NP_116764	P42575	CASP2_HUMAN	Homo sapiens caspase 2, apoptosis-related cysteine peptidase (CASP2), transcript variant 1, mRNA.	376					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AGGGACTGCCGCCATGCGGAA	0.537000														206			30		0	0	1	0	0
RGS9BP	388531	broad.mit.edu	37	19	33167833	33167833	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33167833C>T	uc002ntp.1	+	0	1521	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	ANKRD27_uc002ntn.1_5'Flank|ANKRD27_uc002nto.1_5'Flank	NM_207391	NP_997274	Q6ZS82	R9BP_HUMAN	Homo sapiens regulator of G protein signaling 9 binding protein (RGS9BP), mRNA.	222					negative regulation of signal transduction	integral to membrane				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CGCCGTGCTGCTGGCGGCTGT	0.721000														43			5		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65408968	65408968	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408968G>A	uc001ofb.2	+	1	743	c.576G>A	c.(574-576)gcG>gcA	p.A192A	SIPA1_uc010rom.1_Silent_p.A192A|SIPA1_uc001ofd.2_Silent_p.A192A	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	192					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGCCCAACGCGGCCGTGTCCA	0.637000														110			22		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45111149	45111149	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45111149C>T	uc001clv.1	+	11	1794	c.1434C>T	c.(1432-1434)agC>agT	p.S478S	RNF220_uc001clw.1_Silent_p.S478S|RNF220_uc010oky.1_Silent_p.S265S|RNF220_uc010okz.2_Silent_p.S220S|RNF220_uc001clx.2_Silent_p.S194S|RNF220_uc001cma.1_Silent_p.S157S	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	478					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCAAGAACAGCGACATCGAGA	0.592000														70			12		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123348342	123348342	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123348342T>G	uc003ego.3	-	29	5375	c.5093A>C	c.(5092-5094)aAt>aCt	p.N1698T	MYLK-AS1_uc003egk.3_Splice_Site|MYLK_uc010hrr.3_Missense_Mutation_p.N133T|MYLK_uc011bjv.2_Missense_Mutation_p.N498T|MYLK_uc011bjw.2_Missense_Mutation_p.N1698T|MYLK_uc003egp.3_Missense_Mutation_p.N1629T|MYLK_uc003egq.3_Intron|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.N1522T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1698	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTCAGCAGATTGCTGATGAA	0.493000														123			33		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35254750	35254750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35254750G>A	uc002yta.1	+	34	4813	c.4545G>A	c.(4543-4545)atG>atA	p.M1515I	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.M1510I|ITSN1_uc002ytj.2_Missense_Mutation_p.M1454I|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1515	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGTATAAAATGTATAAAACAG	0.433000														54			12		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112722774	112722774	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112722774C>T	uc002thk.1	+	4	886	c.764C>T	c.(763-765)aCg>aTg	p.T255M	MERTK_uc002thl.1_Missense_Mutation_p.T79M	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	255	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CCAGGCCTGACGGAGATGGCG	0.483000														117			21		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973816	22973816	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973816C>T	uc001bgc.4	+	2	381	c.278C>T	c.(277-279)cCt>cTt	p.P93L	C1QC_uc001bga.4_Missense_Mutation_p.P93L	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	93	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATGGGACCCCCTGGGATGCCA	0.632000														135			14		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285818	62285818	+	Silent	SNP	G	A	A	rs137898001		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285818G>A	uc001ntl.3	-	4	16371	c.16071C>T	c.(16069-16071)aaC>aaT	p.N5357N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5357					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTGCCCCAACGTTAAGCTTTG	0.557000														166			35		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121652806	121652806	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121652806C>T	uc003vjy.3	+	11	4101	c.3706C>T	c.(3706-3708)Ctg>Ttg	p.L1236L	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1236					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.M1235V(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAAAACATGCTGCACTCTAC	0.388000														167			44		0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025276	202025276	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202025276C>T	uc002uxb.4	+	8	1380	c.915C>T	c.(913-915)taC>taT	p.Y305Y	CFLAR_uc010zhk.2_Silent_p.Y209Y|CFLAR_uc010zhl.2_Silent_p.Y209Y|CFLAR_uc002uxc.4_Silent_p.Y270Y|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Silent_p.Y305Y|CFLAR_uc010fsx.3_Intron|CFLAR_uc010fsy.3_Intron|CFLAR_uc002uxf.3_Silent_p.Y305Y|CFLAR_uc010zhm.2_Silent_p.Y209Y|CFLAR_uc010fsz.3_Silent_p.Y60Y|CFLAR_uc002uxg.3_Silent_p.Y60Y|CFLAR-AS1_uc002uxh.1_5'Flank	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	305	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ACCGAGACTACGACAGCTTTG	0.532000														275			25		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178871296	178871296	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178871296C>A	uc001glz.3	+	17	1918	c.1580C>A	c.(1579-1581)gCt>gAt	p.A527D	RALGPS2_uc010pnb.2_Missense_Mutation_p.A501D	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	527	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GTGATGATGGCTGATGACCCT	0.393000														102			21		2.4624e-09	2.73094e-09	1	1	0
RAB6B	51560	broad.mit.edu	37	3	133547691	133547691	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133547691C>T	uc003epy.3	-	7	949	c.568G>A	c.(568-570)Gac>Aac	p.D190N	RAB6B_uc011blu.1_Missense_Mutation_p.D177N	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	190					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCTTGATGTCGATCACTGCA	0.602000														382			83		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44605038	44605038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44605038C>T	uc002oyh.2	+	3	417	c.100C>T	c.(100-102)Cga>Tga	p.R34*		NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	34	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GAAGCTGTATCGAGATGTGAT	0.537000														309			61		0	0	1	0	0
TMEM86A	144110	broad.mit.edu	37	11	18722484	18722484	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18722484A>C	uc001moz.1	+	1	109	c.26A>C	c.(25-27)aAg>aCg	p.K9T		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	9						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTCCAGGTGAAGAGTGAAGGA	0.572000														215			53		0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30793510	30793510	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30793510C>A	uc003tbs.1	+	1	334	c.318C>A	c.(316-318)gaC>gaA	p.D106E	FAM188B_uc010kwe.3_5'UTR|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.D105E	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	106						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGCCTATGACTGGACCCCAG	0.572000														228			50		3.50607e-19	4.25313e-19	1	1	0
C1orf52	148423	broad.mit.edu	37	1	85724406	85724406	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85724406C>T	uc001dkv.3	-	2	316	c.277_splice	c.e2-1	p.P93_splice	C1orf52_uc001dkw.3_Splice_Site|C1orf52_uc001dkx.4_Splice_Site|C1orf52_uc009wcn.3_Splice_Site_p.P93_splice	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	Homo sapiens chromosome 1 open reading frame 52 (C1orf52), transcript variant 1, mRNA.	93										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		CCTTTGGAGGCTGTTAAGCAA	0.498000														44			4		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24488103	24488103	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24488103G>A	uc003jgr.2	-	11	2542	c.2036C>T	c.(2035-2037)gCa>gTa	p.A679V	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	679					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P678S(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCAATGGCTGCAGGATTCCT	0.483000										HNSCC(23;0.051)				122			18		0	0	1	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791334	153791334	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153791334T>G	uc001fdb.4	-	3	774	c.530A>C	c.(529-531)gAa>gCa	p.E177A		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	177	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCGGGCTTCTTCCAATCG	0.478000														157			36		0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76933016	76933016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76933016G>A	uc003kfg.3	-	1	225	c.77C>T	c.(76-78)gCg>gTg	p.A26V		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	26						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		ACACTTCACCGCCTCCCGGTG	0.677000														21			4		0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62407098	62407098	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62407098G>A	uc002ygv.2	-	2	1356	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.A385A(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCAGCACGTCGGCCTTCAGCG	0.677000											OREG0026130	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		191			50		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183791578	183791578	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183791578C>A	uc002upc.3	-	29	3638	c.3236G>T	c.(3235-3237)aGa>aTa	p.R1079I	NCKAP1_uc002upb.3_Missense_Mutation_p.R1085I	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	1079					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCTCTATTTCTTGTTGTAGT	0.313000														51			11		3.07112e-06	3.25591e-06	1	1	0
PJA1	64219	broad.mit.edu	37	X	68382741	68382741	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382741G>A	uc022byl.1	-	0	341	c.341C>T	c.(340-342)gCc>gTc	p.A114V	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Missense_Mutation_p.A114V|PJA1_uc004dxi.3_Missense_Mutation_p.A59V|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	114							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ATGTCCATAGGCCATTCCTCT	0.507000														122			14		0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124692104	124692104	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124692104G>A	uc001lgw.2	-	5	1402	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	C10orf88_uc001lgx.2_Missense_Mutation_p.L295F	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	393										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TAATCCATAAGTTTCTTTTCC	0.343000														54			9		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54544318	54544318	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544318C>T	uc002qcw.4	-	8	784	c.608G>A	c.(607-609)gGa>gAa	p.G203E	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Missense_Mutation_p.G115E|VSTM1_uc002qcx.4_Missense_Mutation_p.G172E|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.G83E	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	203						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		ATAGGTCACTCCTTGGGGGTC	0.493000														39			10		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95182635	95182635	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95182635A>G	uc003ygh.2	-	8	1181	c.1056T>C	c.(1054-1056)aaT>aaC	p.N352N	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.N352N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	352	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCAGTCGTTCATTCTCCTGGA	0.443000														165			31		0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36636953	36636953	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36636953G>A	uc002odi.1	+	7	758	c.601G>A	c.(601-603)Gca>Aca	p.A201T	CAPNS1_uc002odk.3_Missense_Mutation_p.A201T|CAPNS1_uc002odj.3_Missense_Mutation_p.A201T|CAPNS1_uc002odl.3_Missense_Mutation_p.A201T	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	201	EF-hand 3.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTTTGAGGCAGCAGGTATGGC	0.572000														351			82		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189349364	189349364	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189349364G>T	uc003fry.2	+	0	149	c.60G>T	c.(58-60)caG>caT	p.Q20H	TP63_uc003frx.2_Missense_Mutation_p.Q20H|TP63_uc003frz.2_Missense_Mutation_p.Q20H|TP63_uc010hzc.1_Missense_Mutation_p.Q20H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	20	Transcription activation.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CTTACATCCAGCGGTGAGTTT	0.403000										HNSCC(45;0.13)				173			34		6.84511e-11	7.74371e-11	1	1	0
ANO3	63982	broad.mit.edu	37	11	26619977	26619977	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619977G>A	uc001mqt.4	+	14	1658	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ANO3_uc010rdr.2_Missense_Mutation_p.E489K|ANO3_uc010rds.2_Missense_Mutation_p.E344K|ANO3_uc010rdt.2_Missense_Mutation_p.E359K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	505						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGACCTTATCGAATGGGAAGA	0.393000														100			18		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610511	76610511	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76610511G>A	uc011kgn.1	+	0		c.373G>A			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCCTCTACCGCTCCAGCCTC	0.677000														117			24		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376098	6376098	+	Silent	SNP	G	A	A	rs148138690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6376098G>A	uc002gdd.4	-	10	1459	c.1308C>T	c.(1306-1308)tgC>tgT	p.C436C	PITPNM3_uc010cln.3_Silent_p.C400C|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Silent_p.C27C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	436	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGGGTCTGCGCAATGGAAGA	0.632000														79			16		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74090663	74090663	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74090663C>T	uc002jqs.3	-	6	736	c.641_splice	c.e6-1	p.D214_splice	EXOC7_uc010dgv.2_Splice_Site_p.D161_splice|EXOC7_uc010wsv.2_Splice_Site_p.D173_splice|EXOC7_uc010wsw.2_Splice_Site_p.D214_splice|EXOC7_uc002jqq.3_Splice_Site_p.D214_splice|EXOC7_uc010wsx.2_Splice_Site_p.D214_splice|EXOC7_uc002jqr.3_Splice_Site_p.D214_splice|EXOC7_uc002jqu.2_Intron	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	214					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TTCATGAAATCTGAGGAGACA	0.527000														133			34		0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67401799	67401799	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67401799G>A	uc001omp.3	-	3	498	c.410C>T	c.(409-411)gCg>gTg	p.A137V		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	137					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TGCCTTGCCCGCCACCAGCCA	0.647000														184			41		0	0	1	0	0
SNAPC4	6621	broad.mit.edu	37	9	139286432	139286432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139286432C>T	uc004chh.3	-	8	946	c.937G>A	c.(937-939)Ggc>Agc	p.G313S		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	313	HTH myb-type 1.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TCCAGGTGGCCGTGTGCAGCC	0.662000														171			29		0	0	1	0	0
ZNF235	9310	broad.mit.edu	37	19	44791924	44791924	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44791924C>A	uc002oza.4	-	4	1767	c.1664G>T	c.(1663-1665)aGc>aTc	p.S555I	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.S551I	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				AAGATTCAAGCTCCAATTGAA	0.443000														117			26		7.92952e-12	9.07913e-12	1	1	0
MRPS36	92259	broad.mit.edu	37	5	68524106	68524106	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524106A>G	uc003jvq.3	+	2	270	c.186A>G	c.(184-186)ccA>ccG	p.P62P		NM_033281	NP_150597	P82909	RT36_HUMAN	Homo sapiens mitochondrial ribosomal protein S36 (MRPS36), nuclear gene encoding mitochondrial protein, mRNA.	62					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GTAAATCACCAGATTTGCTGA	0.353000														90			28		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911186	100911186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911186G>A	uc010nnt.2	-	4	2198	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	ARMCX2_uc004eid.2_Silent_p.G463G|ARMCX2_uc004eie.3_Silent_p.G463G|ARMCX2_uc004eif.3_Silent_p.G463G|ARMCX2_uc004eig.3_Silent_p.G463G|ARMCX2_uc022caq.1_Silent_p.G463G	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	463						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCTGAAGCCGGCCCTGATTTT	0.378000														167			41		0	0	1	0	0
MAPK6	5597	broad.mit.edu	37	15	52338703	52338703	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52338703C>T	uc002abp.3	+	1	840	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L		NM_002748	NP_002739	Q16659	MK06_HUMAN	Homo sapiens mitogen-activated protein kinase 6 (MAPK6), mRNA.	16					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		TGGTTTTGATCTGGGTTCTAG	0.378000														209			16		0	0	1	0	0
ARGLU1	55082	broad.mit.edu	37	13	107211878	107211878	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107211878G>A	uc001vqk.4	-	1	722	c.475C>T	c.(475-477)Cga>Tga	p.R159*	ARGLU1_uc010age.1_5'UTR	NM_018011	NP_060481	Q9NWB6	ARGL1_HUMAN	Homo sapiens arginine and glutamate rich 1 (ARGLU1), mRNA.	159	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCACCCTTCGGAGAACTTCT	0.478000														201			10		0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7866895G>A	uc003jeb.3	-	1	1474	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	FASTKD3_uc011cmp.2_Silent_p.N136N|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	434					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATAGCACGTTTTCCAGCT	0.353000														85			18		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42482344	42482344	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42482344C>T	uc002osh.3	-	12	1919	c.1765G>A	c.(1765-1767)Gtc>Atc	p.V589I	ATP1A3_uc010xwf.2_Missense_Mutation_p.V600I|ATP1A3_uc010xwg.2_Missense_Mutation_p.V559I|ATP1A3_uc002osg.3_Missense_Mutation_p.V589I|ATP1A3_uc010xwh.2_Missense_Mutation_p.V602I			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	589					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCGTCAGGGACGGCTGCCCGG	0.652000														108			32		0	0	1	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370678	101370678	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101370678G>A	uc001kpx.2	-	3	1152	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	SLC25A28_uc021pwy.1_Silent_p.I153I|SLC25A28_uc021pwz.1_Silent_p.I186I|SLC25A28_uc001kpy.2_Silent_p.I154I	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	341					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		CAGACCATGCGATGGCTGTGG	0.512000														153			19		0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24177042	24177042	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24177042G>A	uc002zyk.4	-	6	717	c.692C>T	c.(691-693)aCg>aTg	p.T231M	DERL3_uc002zyh.3_3'UTR|DERL3_uc002zyi.3_3'UTR|DERL3_uc002zyj.3_3'UTR|DERL3_uc021wmv.1_Non-coding_Transcript	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	0					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CTCTCCTGCCGTCCCTGGGCC	0.652000														103			20		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2055426	2055426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2055426G>A	uc001qjx.1	-	8	1880	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	DCP1B_uc010sdy.1_Silent_p.I498I	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	600					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.I599V(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGGCTTCATAGATTATATTTA	0.393000														54			5		0	0	1	0	0
ACSBG1	23205	broad.mit.edu	37	15	78474929	78474929	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78474929T>C	uc002bdh.3	-	6	979	c.773A>G	c.(772-774)gAa>gGa	p.E258G	ACSBG1_uc010umx.2_Missense_Mutation_p.E16G|ACSBG1_uc010umw.2_Missense_Mutation_p.E254G|ACSBG1_uc010umy.2_Missense_Mutation_p.E151G	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	258					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCAGGCACTTCATTCCCCAG	0.617000														135			20		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41571725	41571725	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41571725G>A	uc003xok.3	-	15	1833	c.1749C>T	c.(1747-1749)gaC>gaT	p.D583D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.D583D|ANK1_uc003xoj.3_Silent_p.D583D|ANK1_uc003xol.3_Silent_p.D583D|ANK1_uc003xom.3_Silent_p.D616D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	583	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCTTGACGATGTCCAGGTTGT	0.662000														45			5		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46787161	46787161	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46787161C>T	uc003bhw.1	-	15	6172	c.6172G>A	c.(6172-6174)Gca>Aca	p.A2058T	CELSR1_uc011arc.1_Missense_Mutation_p.A379T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2058					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCTCAAATGCTTTGGGACAG	0.607000											OREG0026656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			20		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290277	132290277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290277C>T	uc002tta.3	+	4	851	c.799C>T	c.(799-801)Cga>Tga	p.R267*	CCDC74A_uc002ttb.3_Nonsense_Mutation_p.R201*|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	267										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCTTCCCCTGCGAAAGCCCAC	0.642000														314			41		0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19566057	19566057	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19566057A>C	uc001vuz.1	+	5	1153	c.1101A>C	c.(1099-1101)aaA>aaC	p.K367N	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	367										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGATGCTAAAAGTCTCTTCTG	0.318000														132			8		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27258519	27258519	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27258519C>T	uc002ria.4	+	3	670	c.560C>T	c.(559-561)gCg>gTg	p.A187V	TMEM214_uc002rib.4_Intron	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	187						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GGGCTGCTGGCGAAGGCAGCA	0.567000														231			16		0	0	1	0	0
ZNF317	57693	broad.mit.edu	37	19	9271217	9271217	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9271217T>C	uc002mku.3	+	6	1201	c.896T>C	c.(895-897)gTt>gCt	p.V299A	ZNF317_uc002mkv.3_Missense_Mutation_p.V158A|ZNF317_uc002mkw.3_Missense_Mutation_p.V267A|ZNF317_uc002mkx.3_Missense_Mutation_p.V214A|ZNF317_uc002mky.3_Missense_Mutation_p.V182A	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CACATGCGAGTTCACACTGGC	0.567000														141			40		0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420871	11420871	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11420871T>C	uc001qzs.3	-	2	350	c.312A>G	c.(310-312)ccA>ccG	p.P104P	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	104	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.P103P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTCCTCCTTGTGGGGGTTGTC	0.637000														627			144		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974816	70974816	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70974816C>A	uc001swb.4	-	8	1954	c.1924_splice	c.e8+1	p.V642_splice	PTPRB_uc010sto.2_Splice_Site_p.V642_splice|PTPRB_uc010stp.2_Splice_Site_p.V552_splice|PTPRB_uc001swc.4_Splice_Site_p.V860_splice|PTPRB_uc001swa.4_Splice_Site_p.V860_splice|PTPRB_uc001swd.4_Splice_Site_p.V859_splice|PTPRB_uc009zrr.2_Splice_Site_p.V739_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	642					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TACTTCTTACCTGTTCTTCCC	0.453000														97			19		1.67942e-08	1.84125e-08	1	1	0
CXXC1	30827	broad.mit.edu	37	18	47811382	47811382	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47811382T>A	uc002leq.4	-	6	1635	c.902A>T	c.(901-903)gAc>gTc	p.D301V	CXXC1_uc002lep.4_Missense_Mutation_p.D158V|CXXC1_uc002ler.4_Missense_Mutation_p.D301V|CXXC1_uc010doy.3_Missense_Mutation_p.D301V	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	301	Asp/Glu-rich (acidic).				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CAGGCCATGGTCATCAAAGGC	0.557000														122			36		0	0	1	0	0
GPRC5C	55890	broad.mit.edu	37	17	72439974	72439974	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72439974C>A	uc002jkp.3	+	2	1715	c.1204C>A	c.(1204-1206)Cca>Aca	p.P402T	GPRC5C_uc002jkq.3_Missense_Mutation_p.H141Q|GPRC5C_uc002jkr.3_Missense_Mutation_p.P369T|GPRC5C_uc002jkt.3_Missense_Mutation_p.P357T|GPRC5C_uc002jku.3_Missense_Mutation_p.P112T	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	357						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GCCGGTGTCACCATACAGCGG	0.572000														110			29		2.90539e-05	3.038e-05	1	1	0
TECR	9524	broad.mit.edu	37	19	14676647	14676647	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676647G>A	uc002mza.3	+	12	1021	c.891G>A	c.(889-891)ccG>ccA	p.P297P	TECR_uc010xns.2_Silent_p.P142P|TECR_uc002mzc.3_Silent_p.P142P|TECR_uc002mzb.3_Silent_p.P312P|TECR_uc002mze.3_Silent_p.P123P	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	297					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGGACTACCCGCCCCTGCGCA	0.657000														46			4		0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36705431	36705431	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36705431T>G	uc003apg.3	-	14	1970	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	MYH9_uc003aph.1_Missense_Mutation_p.K444T	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	580	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTCGTCAGCTTTGTAATCCAC	0.567000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					83			6		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17626368	17626368	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17626368C>G	uc003ncd.1	-	18	3772	c.3572G>C	c.(3571-3573)aGt>aCt	p.S1191T	NUP153_uc011dje.1_Missense_Mutation_p.S1222T|NUP153_uc010jpl.1_Missense_Mutation_p.S1149T	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1191					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GTTCAAGAAACTAAAAACTGG	0.413000														68			12		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417673	70417673	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417673C>T	uc002lkw.3	-	8	1449	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	NETO1_uc002lky.2_Missense_Mutation_p.E389K	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	389					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TGAGGAGGTTCAAATACCTCC	0.428000														120			30		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241935	155241935	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155241935C>A	uc003inw.2	-	13	3251	c.3251G>T	c.(3250-3252)gGc>gTc	p.G1084V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1084	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D1083E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAAAAAACTGCCGTCATCATC	0.448000														174			42		9.85521e-28	1.23557e-27	1	1	0
PWWP2B	170394	broad.mit.edu	37	10	134219225	134219225	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219225C>T	uc001lll.4	+	1	1250	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PWWP2B_uc009ybe.3_Silent_p.L407L	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	407										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGCTTTTCTCGTCAGCTGCC	0.657000														144			32		0	0	1	0	0
TRPV4	59341	broad.mit.edu	37	12	110246189	110246189	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110246189G>A	uc001tpj.2	-	1	566	c.471C>T	c.(469-471)atC>atT	p.I157I	TRPV4_uc001tpg.2_Silent_p.I123I|TRPV4_uc021rdp.1_Silent_p.I157I|TRPV4_uc001tph.2_Silent_p.I157I|TRPV4_uc001tpi.2_Silent_p.I157I|TRPV4_uc001tpk.2_Silent_p.I157I	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	157					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCGGGACACGATGTCAAAGA	0.612000														124			34		0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22941527	22941527	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22941527T>G	uc021urt.1	-	3	1339	c.1184A>C	c.(1183-1185)aAa>aCa	p.K395T		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTGTAGGGTTTCTGTCCAGT	0.363000														63			15		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29989137	29989137	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29989137T>C	uc010bzm.2	+	0	79	c.44T>C	c.(43-45)gTg>gCg	p.V15A	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.V15A|TAOK2_uc021tgf.1_Missense_Mutation_p.V15A|TAOK2_uc002dva.2_Missense_Mutation_p.V15A|TAOK2_uc002dvc.2_Missense_Mutation_p.V15A|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	15					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GACCCAGATGTGGCTGAGCTC	0.612000														124			33		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56348560	56348560	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56348560G>A	uc002lhm.1	+	1	626	c.368G>A	c.(367-369)aGc>aAc	p.S123N	MALT1_uc002lhn.1_Missense_Mutation_p.S123N	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	123	Death.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CAGCTTCTCAGCCCCCCAGGT	0.428000			T	BIRC3	MALT									70			17		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27114471	27114471	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27114471A>G	uc001zbd.2	+	2	608	c.76A>G	c.(76-78)Agt>Ggt	p.S26G	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.S26G	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	26					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAACTTATCCAGTCACTTTGG	0.393000														101			17		0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47763668	47763668	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47763668G>A	uc010xym.2	+	3	406	c.199G>A	c.(199-201)Gca>Aca	p.A67T		NM_015603	NP_056418	Q9Y3X0	CCDC9_HUMAN	Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA.	67										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGAGAACGTGGCAGTGGAGTC	0.622000														46			13		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68171011	68171011	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68171011T>C	uc001ont.3	+	7	1720	c.1645T>C	c.(1645-1647)Ttt>Ctt	p.F549L	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	549	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCGCACATTTTTGGGTTCAC	0.597000														166			41		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6690899	6690899	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6690899G>T	uc001qpo.3	-	30	4761	c.4597C>A	c.(4597-4599)Cca>Aca	p.P1533T	CHD4_uc001qpn.3_Missense_Mutation_p.P1526T|CHD4_uc001qpp.3_Missense_Mutation_p.P1558T|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1533					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTGACCCTGGCTGGGACATC	0.562000														153			30		1.88708e-17	2.26542e-17	1	1	0
IFNGR1	3459	broad.mit.edu	37	6	137519427	137519427	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137519427T>C	uc003qho.2	-	6	1314	c.1211A>G	c.(1210-1212)gAg>gGg	p.E404G	IFNGR1_uc011edm.1_Missense_Mutation_p.E376G	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	404					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GTGATCACTCTCAGAACAATT	0.413000														93			19		0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229915	38229915	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38229915A>G	uc002ohe.3	-	4	1545	c.1476T>C	c.(1474-1476)caT>caC	p.H492H	ZNF573_uc010efs.2_Silent_p.H405H|ZNF573_uc002ohd.3_Silent_p.H490H|ZNF573_uc002ohf.3_Silent_p.H434H|ZNF573_uc002ohg.3_Silent_p.H404H|ZNF573_uc021utv.1_Silent_p.H404H	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TCTCACCAGTATGAGTTTTCC	0.378000														95			17		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57266984	57266984	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57266984G>A	uc003hbr.3	-	7	1139	c.980C>T	c.(979-981)tCt>tTt	p.S327F		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	327					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	AGGCGTAGCAGATTCTGGAAC	0.458000														178			52		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65623869	65623869	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65623869G>T	uc002aos.2	-	7	1529	c.1277C>A	c.(1276-1278)cCt>cAt	p.P426H	IGDCC3_uc002aor.1_5'Flank	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	426	Fibronectin type-III 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATTGCGGGGAGGCCCGGGGAG	0.622000														68			16		6.72482e-11	7.60803e-11	1	1	0
TPP1	1200	broad.mit.edu	37	11	6637257	6637257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637257C>T	uc001mel.1	-	8	1185	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	TPP1_uc001mek.1_Missense_Mutation_p.R132H	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	375					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	p.R375C(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GAAGGTAGGGCGGAACTGGTG	0.488000														81			15		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70608839	70608839	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70608839G>A	uc003pfc.1	+	3	209	c.92_splice	c.e3-1	p.E31_splice		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	31					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTTTAAATAGAAGAGTCATG	0.308000														55			11		0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585522	51585522	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51585522C>T	uc001rxy.3	-	3	609	c.417G>A	c.(415-417)gaG>gaA	p.E139E	POU6F1_uc001rxz.3_Silent_p.E139E|POU6F1_uc001rya.3_Silent_p.E139E	NM_002702	NP_002693	Q14863	PO6F1_HUMAN	Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA.	139	Gln/Pro-rich.|POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGATCCCATCCTCATCCAGAC	0.542000														224			46		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58476773	58476773	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58476773C>T	uc002yaz.3	-	14	1265	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T	SYCP2_uc010gju.1_Missense_Mutation_p.A277T	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	376					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCTAGTGATGCGTCAAAATAC	0.274000														49			7		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587714	57587714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587714C>T	uc001snd.3	+	47	8303	c.7837C>T	c.(7837-7839)Cgg>Tgg	p.R2613W	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2613	LDL-receptor class A 13.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTTCCGCTGCCGGGACGGGAC	0.607000														117			28		0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924617	94924617	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924617C>T	uc001pfk.1	-	2	515	c.293G>A	c.(292-294)cGc>cAc	p.R98H	SESN3_uc010rug.1_Missense_Mutation_p.R20H|SESN3_uc001pfl.3_Missense_Mutation_p.R98H	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	98					cell cycle arrest	nucleus		p.R98L(2)|p.R98C(1)		endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ACCATCCATGCGCAACATGTA	0.443000														159			37		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104074400	104074400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104074400C>T	uc003hxb.1	-	24	3131	c.3041G>A	c.(3040-3042)gGc>gAc	p.G1014D	CENPE_uc003hxc.1_Missense_Mutation_p.G989D	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1014					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTATCTATGCCAACCATCTA	0.289000														19			4		0	0	1	0	0
FBXL13	222235	broad.mit.edu	37	7	102524065	102524065	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102524065C>T	uc003vaq.2	-	12	1602	c.1175G>A	c.(1174-1176)tGt>tAt	p.C392Y	FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.C392Y|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.C392Y	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	392										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCTGAAAGTACAATCGGAGAT	0.338000														61			18		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072469	240072469	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240072469A>G	uc021plc.1	+	0	1718	c.1718A>G	c.(1717-1719)tAc>tGc	p.Y573C	CHRM3_uc001hyp.3_Missense_Mutation_p.Y573C	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	573					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.Y573*(1)|p.Q572K(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AAGCAGCAGTACCAGCAGAGA	0.493000														102			16		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602068	13602068	+	Silent	SNP	G	A	A	rs139854434	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13602068G>A	uc003gmz.1	-	9	6573	c.6456C>T	c.(6454-6456)ttC>ttT	p.F2152F	BOD1L1_uc010idr.1_Silent_p.F1489F	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2152							DNA binding	p.F2152F(1)									TAGGCAATTCGAATTCTTCCC	0.493000														117			20		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926424	8926424	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926424C>T	uc002qzc.2	-	15	2033	c.1851G>A	c.(1849-1851)atG>atA	p.M617I	KIDINS220_uc010yiv.1_Missense_Mutation_p.M383I|KIDINS220_uc002qzd.2_Missense_Mutation_p.M575I|KIDINS220_uc010yiw.1_Missense_Mutation_p.M618I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	617	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGTTGCAATCATTTCAGCCA	0.383000														267			23		0	0	1	0	0
G2E3	55632	broad.mit.edu	37	14	31085649	31085649	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31085649C>T	uc001wqk.2	+	14	2184	c.2030C>T	c.(2029-2031)aCa>aTa	p.T677I	G2E3_uc010tpf.1_Missense_Mutation_p.T631I|G2E3_uc001wql.1_Missense_Mutation_p.T189I	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	677	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATCACCAATACATATAAAGAG	0.353000														48			7		0	0	1	0	0
SH3RF1	57630	broad.mit.edu	37	4	170037775	170037775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170037775G>A	uc003isa.1	-	9	2119	c.1784C>T	c.(1783-1785)gCg>gTg	p.A595V	SH3RF1_uc010irc.1_Missense_Mutation_p.A295V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	595						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGGTTGTGCGCTGCAACTAG	0.532000														159			31		0	0	1	0	0
ULK3	25989	broad.mit.edu	37	15	75133792	75133792	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75133792C>T	uc010ulq.1	-	3	459	c.456G>A	c.(454-456)caG>caA	p.Q152Q	ULK3_uc010ulp.1_Silent_p.Q51Q|ULK3_uc010ulr.1_Silent_p.Q24Q|ULK3_uc010bkf.1_Silent_p.Q141Q|ULK3_uc002ayv.2_Silent_p.Q141Q|ULK3_uc010uls.1_Silent_p.Q24Q|ULK3_uc010ult.1_Silent_p.Q51Q|ULK3_uc010ulu.1_Silent_p.Q51Q	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	141	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GTAGAATGTTCTGTGGCTTCA	0.537000														66			13		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179499528	179499528	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179499528A>G	uc003fkh.3	+	20	2495	c.2414_splice	c.e20-1	p.T805_splice		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	805					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CTTTCACAGCATATGAGCTAT	0.378000														66			11		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60229917	60229917	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60229917C>T	uc009yna.3	+	1	397	c.70C>T	c.(70-72)Caa>Taa	p.Q24*	MS4A1_uc009ymy.1_Nonsense_Mutation_p.Q24*|MS4A1_uc009ymz.3_Nonsense_Mutation_p.Q24*|MS4A1_uc010rlc.2_Nonsense_Mutation_p.Q24*|MS4A1_uc001npp.3_Nonsense_Mutation_p.Q24*|MS4A1_uc001npq.3_Nonsense_Mutation_p.Q24*	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	24					B cell activation|immune response	integral to plasma membrane		p.M23L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTGCTATGCAATCTGGTCC	0.448000														119			8		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78440485	78440485	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78440485A>C	uc001ozl.4	-	21	3805	c.3342T>G	c.(3340-3342)taT>taG	p.Y1114*		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1114					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AAATGAAATAATAGGACAGGT	0.547000														34			5		0	0	1	0	0
SPRYD7	57213	broad.mit.edu	37	13	50489247	50489247	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50489247C>T	uc001vdl.2	-	4	797	c.543G>A	c.(541-543)acG>acA	p.T181T	SPRYD7_uc001vdm.2_Silent_p.T142T|SPRYD7_uc010tgm.1_Non-coding_Transcript	NM_020456	NP_065189	Q5W111	SPRY7_HUMAN	Homo sapiens SPRY domain containing 7 (SPRYD7), transcript variant 1, mRNA.	181	B30.2/SPRY.									haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)	6						CAGGTGGAGGCGTATGATAAA	0.284000														63			9		0	0	1	0	0
MIR130B	406920	broad.mit.edu	37	22	22007631	22007631	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22007631G>A	uc011aii.1	+	0		c.39G>A								Homo sapiens microRNA 130b (MIR130B), microRNA.																		ACTACTATAGGCCGCTGGGAA	0.612000														29			6		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18007126	18007126	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18007126A>C	uc002gsh.1	+	9	873	c.818A>C	c.(817-819)aAg>aCg	p.K273T		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	273					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					TGCGGCATGAAGCTGAACCTG	0.572000														179			35		0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155236524	155236524	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155236524G>A	uc001fjy.3	-	6	1124	c.834C>T	c.(832-834)gtC>gtT	p.V278V	CLK2_uc001fjw.3_Silent_p.V277V|CLK2_uc001fjx.3_Silent_p.V50V|CLK2_uc009wqm.3_Silent_p.V278V	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	278	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTCACACTTGACAGCCTGGC	0.572000								Other conserved DNA damage response genes						67			21		0	0	1	0	0
CNTD1	124817	broad.mit.edu	37	17	40951182	40951182	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40951182G>T	uc002ibm.4	+	0	329	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	CCDC56_uc010wgz.1_5'Flank|CCDC56_uc002ibl.3_5'Flank|CNTD1_uc010wha.2_Intron	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	33	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTCACTTGGCCCAGCAGAA	0.632000														102			18		6.49762e-13	7.53005e-13	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110784169	110784169	+	Missense_Mutation	SNP	C	T	T	rs151157805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784169C>T	uc001tqk.4	+	19	3586	c.3023C>T	c.(3022-3024)tCg>tTg	p.S1008L	ATP2A2_uc001tql.4_Intron|ATP2A2_uc021rdt.1_Missense_Mutation_p.S856L|ATP2A2_uc001tqn.4_Missense_Mutation_p.S85L|ATP2A2_uc009zvn.3_Intron	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	1008					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGCTCGTTCTCGGCATGCACC	0.527000														72			29		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677614	48677614	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48677614G>T	uc003cuf.1	-	35	9698	c.9698C>A	c.(9697-9699)gCt>gAt	p.A3233D	CELSR3_uc010hkf.3_Missense_Mutation_p.A425D|CELSR3_uc010hkg.3_Missense_Mutation_p.A1118D|CELSR3_uc003cul.3_Missense_Mutation_p.A3135D	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3135					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAGCGGCCAGCCATGGCGCC	0.687000														169			53		1.51943e-15	1.80078e-15	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38953136	38953136	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38953136G>A	uc003jlo.2	-	28	2870	c.2848C>T	c.(2848-2850)Cca>Tca	p.P950S	RICTOR_uc003jlp.2_Missense_Mutation_p.P950S|RICTOR_uc010ivf.2_Missense_Mutation_p.P665S	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	950					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGTATATCTGGAATCACGTTT	0.353000														108			9		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59323801	59323801	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59323801C>T	uc002afv.3	+	1	1059	c.780C>T	c.(778-780)gaC>gaT	p.D260D	RNF111_uc002afs.3_Silent_p.D260D|RNF111_uc002aft.3_Silent_p.D260D|RNF111_uc002afu.3_Silent_p.D260D|RNF111_uc002afw.3_Silent_p.D260D	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	260	Interaction with AXIN1.|Ser-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		GTGAGAATGACCTCAGCAGTG	0.413000														147			25		0	0	1	0	0
ZC2HC1A	51101	broad.mit.edu	37	8	79590871	79590871	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:79590871C>T	uc003ybd.3	+	2	269	c.167C>T	c.(166-168)gCt>gTt	p.A56V		NM_016010	NP_057094	Q96GY0	F164A_HUMAN	Homo sapiens family with sequence similarity 164, member A (FAM164A), mRNA.	56																	AGACAGAGAGCTGAAGGAACT	0.358000														102			29		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923407	43923407	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923407C>T	uc010wka.2	+	0	1152	c.1135C>T	c.(1135-1137)Ctg>Ttg	p.L379L	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	379						integral to membrane	aspartic-type endopeptidase activity										CTCCTCCTTCCTGCTGGCCCT	0.607000														112			21		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088131	94088131	+	Missense_Mutation	SNP	C	T	T	rs139010639		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94088131C>T	uc001ybv.1	+	27	4170	c.4087C>T	c.(4087-4089)Cgt>Tgt	p.R1363C	UNC79_uc001ybs.1_Missense_Mutation_p.R1341C	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	1518						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGACGAACATCGTAGGAAGTC	0.438000														122			27		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17046474	17046474	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17046474A>C	uc001azn.1	-	0	179	c.65T>G	c.(64-66)gTc>gGc	p.V22G						Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		GTAGTGCCTGACGAGAAGCCT	0.622000														99			16		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088924	57088924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088924C>T	uc002qnl.4	+	5	1803	c.1127C>T	c.(1126-1128)gCt>gTt	p.A376V	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGTGGGAAAGCTTTCAGGCAG	0.423000														111			9		0	0	1	0	0
ZFYVE20	64145	broad.mit.edu	37	3	15118571	15118571	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15118571G>T	uc003bzm.1	-	11	1713	c.1099C>A	c.(1099-1101)Cag>Aag	p.Q367K	ZFYVE20_uc010hek.1_Missense_Mutation_p.Q367K	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	367	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB4A.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GGCTTTACCTGCACAAAAAGT	0.478000														106			19		2.39187e-15	2.82985e-15	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78046696	78046696	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78046696G>T	uc001dhq.3	-	8	2443	c.1967C>A	c.(1966-1968)aCt>aAt	p.T656N	ZZZ3_uc001dhr.3_Missense_Mutation_p.T162N|ZZZ3_uc001dhp.3_Missense_Mutation_p.T655N	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373000														154			13		0.000308642	0.000318063	1	1	0
SEC24A	10802	broad.mit.edu	37	5	134039521	134039521	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134039521A>G	uc003kzs.3	+	15	2631	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	SEC24A_uc011cxu.2_Missense_Mutation_p.N544S	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	780					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTAACGTCAACCCAGACGCT	0.408000														94			12		0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126342391	126342391	+	Missense_Mutation	SNP	C	T	T	rs143525602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126342391C>T	uc003qam.3	+	11	1346	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Missense_Mutation_p.R409C	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		CACATCAAGGCGCTTGATCAC	0.403000														114			8		0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2876127	2876127	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2876127C>T	uc002lwp.1	+	2	254	c.167C>T	c.(166-168)tCt>tTt	p.S56F	ZNF556_uc002lwq.3_Missense_Mutation_p.S56F	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCTATTTCTCAGCAGGAT	0.368000														251			46		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070553	114070553	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070553G>A	uc003ebi.3	-	3	552	c.372C>T	c.(370-372)gcC>gcT	p.A124A	ZBTB20_uc003ebj.3_Silent_p.A51A|ZBTB20_uc010hqp.3_Silent_p.A51A|ZBTB20_uc003ebk.3_Silent_p.A51A|ZBTB20_uc003ebl.3_Silent_p.A51A|ZBTB20_uc003ebm.3_Silent_p.A51A|ZBTB20_uc003ebn.3_Silent_p.A51A|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	124	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGGGGCTGCCGGCTGCCAGCA	0.607000														105			25		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72734178	72734178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72734178C>T	uc003txy.1	-	2	664	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.A155T|TRIM50_uc003txz.1_Missense_Mutation_p.A155T	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	155						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						ACCAGTTTGGCGATGAGCTCA	0.587000														380			60		0	0	1	0	0
TNFSF11	8600	broad.mit.edu	37	13	43148613	43148613	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43148613C>T	uc001uyu.2	+	0	323	c.174C>T	c.(172-174)ggC>ggT	p.G58G	TNFSF11_uc001uyt.2_Intron	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	58					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell activation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of osteoclast differentiation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		TGGGGCTGGGCCAGGTTGTCT	0.721000														39			10		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118772712	118772712	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118772712C>T	uc001pug.3	-	5	2705	c.1740G>A	c.(1738-1740)ctG>ctA	p.L580L	BCL9L_uc009zal.3_Silent_p.L575L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	580					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGCCCCCGCAGCTGCGCAC	0.647000														64			14		0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1992050	1992050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1992050C>T	uc021qsx.1	-	12	1699	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A378T	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	490	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TCCATGTAGGCCTCTGTCCAG	0.587000														46			8		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14548392	14548392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14548392C>T	uc021wtn.1	-	20	2603	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	772					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCGAGAAGCGGGCTGCTGG	0.657000														36			10		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595572	55595572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55595572G>A	uc001nhy.1	+	0	878	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TACAGCCTGAGAAATAAGGAT	0.473000										HNSCC(27;0.073)				54			10		0	0	1	0	0
CCDC64B	146439	broad.mit.edu	37	16	3078764	3078764	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3078764G>A	uc002ctf.4	-	6	1220	c.1175C>T	c.(1174-1176)gCg>gTg	p.A392V	CCDC64B_uc002cte.4_Missense_Mutation_p.A185V	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	392										breast(1)|endometrium(2)|large_intestine(1)	4						GTCTTCCTGCGCCCGCAGCTC	0.667000														8			6		0	0	1	0	0
SNX10	29887	broad.mit.edu	37	7	26404691	26404691	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26404691A>C	uc011jzg.2	+	5	573	c.306A>C	c.(304-306)aaA>aaC	p.K102N	SNX10_uc003sxx.3_Missense_Mutation_p.K79N|SNX10_uc010kuu.3_Missense_Mutation_p.K79N|SNX10_uc010kuv.3_Missense_Mutation_p.K76N|SNX10_uc010kuw.3_5'UTR	NM_001199838	NP_001186767	Q9Y5X0	SNX10_HUMAN	Homo sapiens sorting nexin 10 (SNX10), transcript variant 4, mRNA.	79	PX.				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TTCCATCTAAAAACCTGTTTT	0.413000											OREG0017908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			9		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698703	48698703	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698703C>T	uc003cuf.1	-	2	1575	c.1575G>A	c.(1573-1575)ctG>ctA	p.L525L	CELSR3_uc003cul.3_Silent_p.L455L	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	455	Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCACGCAGCTGCAGGA	0.677000														90			30		0	0	1	0	0
OCIAD1	54940	broad.mit.edu	37	4	48844691	48844691	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48844691G>T	uc010igk.3	+	3	409	c.193G>T	c.(193-195)Gga>Tga	p.G65*	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Nonsense_Mutation_p.G60*|OCIAD1_uc003gyq.3_Nonsense_Mutation_p.G60*|OCIAD1_uc003gyp.3_Nonsense_Mutation_p.G60*|OCIAD1_uc003gyr.3_Nonsense_Mutation_p.G60*|OCIAD1_uc021xoc.1_Nonsense_Mutation_p.G60*	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	60	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GATTACTCAAGGATTAATTAG	0.284000														41			7		0.000274275	0.000282808	1	1	0
ZNF551	90233	broad.mit.edu	37	19	58198782	58198782	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58198782G>A	uc002qpw.4	+	2	1314	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	ZNF551_uc002qpv.4_Missense_Mutation_p.R307Q|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGCCTTTTTCGACACCAGAGA	0.438000														110			27		0	0	1	0	0
PLEKHN1	84069	broad.mit.edu	37	1	907699	907699	+	Silent	SNP	C	T	T	rs142121682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:907699C>T	uc001ace.3	+	8	1088	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	PLEKHN1_uc001acd.3_Silent_p.C299C|PLEKHN1_uc001acf.3_Silent_p.C311C	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	351	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGTGGTGTGCGCCAGCTACG	0.687000														102			12		0	0	1	0	0
LTBP3	4054	broad.mit.edu	37	11	65308385	65308385	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65308385G>T	uc001oej.3	-	20	3203	c.2934C>A	c.(2932-2934)acC>acA	p.T978T	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Silent_p.T408T|LTBP3_uc010roi.2_Silent_p.T861T|LTBP3_uc001oei.3_Silent_p.T978T|LTBP3_uc010roj.2_Silent_p.T679T|LTBP3_uc010rok.1_Silent_p.T889T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	978						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGTTGTCCTGGGTGTAGCCCT	0.706000											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			11		1.5842e-08	1.73923e-08	1	1	0
ITGAV	3685	broad.mit.edu	37	2	187531458	187531458	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187531458C>T	uc002upq.3	+	21	2470	c.2194C>T	c.(2194-2196)Cac>Tac	p.H732Y	ITGAV_uc010frs.3_Missense_Mutation_p.H696Y|ITGAV_uc010zfv.2_Missense_Mutation_p.H686Y	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	732					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCAGTGTGCACCAGCAGTC	0.318000														96			14		0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510879	5510879	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5510879A>G	uc010qzg.2	+	0	965	c.943A>G	c.(943-945)Aag>Gag	p.K315E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACCTGGGGAAGACTTCAAT	0.413000														75			21		0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138768566	138768566	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138768566G>A	uc003vun.3	-	2	1045	c.657C>T	c.(655-657)tgC>tgT	p.C219C	ZC3HAV1_uc003vup.3_Silent_p.C219C	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	219					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCTTGCTGTTGCAGATGTCCT	0.493000														120			27		0	0	1	0	0
ACSL5	51703	broad.mit.edu	37	10	114170354	114170354	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114170354G>A	uc001kzu.3	+	8	1037	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	ACSL5_uc001kzs.3_Missense_Mutation_p.E253K|ACSL5_uc001kzt.3_Missense_Mutation_p.E253K|ACSL5_uc009xxz.3_Missense_Mutation_p.E253K|ACSL5_uc010qrj.2_Missense_Mutation_p.E35K	NM_016234	NP_976314	Q9ULC5	ACSL5_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 5 (ACSL5), transcript variant 1, mRNA.	253					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		TCCTAGCCCAGAAGACCTGAG	0.502000														56			9		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111711410	111711410	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111711410G>A	uc010rwn.2	-	8	1102	c.1003C>T	c.(1003-1005)Ctc>Ttc	p.L335F	ALG9_uc001ply.3_Missense_Mutation_p.L210F|ALG9_uc001plz.3_Missense_Mutation_p.L210F|ALG9_uc021qql.1_Missense_Mutation_p.L210F|ALG9_uc021qqm.1_Missense_Mutation_p.L210F|ALG9_uc010rwo.2_Missense_Mutation_p.L209F|ALG9_uc009yyh.1_Missense_Mutation_p.L276F	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	381					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		GCGCCACAGAGACATATAAGT	0.393000														115			32		0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220116407	220116407	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220116407C>T	uc002vkt.1	-	2	313	c.255G>A	c.(253-255)caG>caA	p.Q85Q	TUBA4A_uc010zkz.1_Silent_p.Q70Q|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	85					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTGGAAGAGCTGTCGGTATG	0.547000														110			21		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20180434	20180434	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180434C>A	uc002wru.3	+	16	1934	c.1820C>A	c.(1819-1821)tCc>tAc	p.S607Y	C20orf26_uc010zse.2_Missense_Mutation_p.S587Y	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	607										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TACGCCCACTCCCTGACATCT	0.498000														303			56		8.99859e-20	1.09484e-19	1	1	0
KSR1	8844	broad.mit.edu	37	17	25932780	25932780	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25932780G>A	uc010crg.3	+	14	2032	c.1587G>A	c.(1585-1587)gaG>gaA	p.E529E	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Silent_p.E309E	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	665					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGCGGCATGAGAACGTGGTGC	0.597000														67			18		0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28970998	28970998	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970998C>T	uc001iuj.1	+	2	854	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	151					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						GTTGTGGTTCCGGGCAGCGGT	0.483000														126			24		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115813812	115813812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115813812C>T	uc003krx.4	-	13	2175	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D	SEMA6A_uc010jck.3_Missense_Mutation_p.G489D|SEMA6A_uc003krw.4_Missense_Mutation_p.G21D|SEMA6A_uc010jcj.3_Missense_Mutation_p.G33D	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	489	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CAGCTGCATGCCCATGATCCT	0.458000														99			22		0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821546	206821546	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206821546G>A	uc001hej.3	+	2	1171	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.D315N	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	335	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TATTCACTGCGATCTGAAGCC	0.458000														170			32		0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72738607	72738607	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72738607A>G	uc003txy.1	-	1	380	c.179T>C	c.(178-180)gTg>gCg	p.V60A	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.V60A|TRIM50_uc003txz.1_Missense_Mutation_p.V60A	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	60						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GCTGCCGTCCACCGCCTGCCG	0.687000											OREG0018105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		199			48		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198718653	198718653	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198718653A>C	uc001gur.1	+	27	3221	c.3041A>C	c.(3040-3042)aAa>aCa	p.K1014T	PTPRC_uc001gut.1_Missense_Mutation_p.K853T	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1014	Tyrosine-protein phosphatase 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAACCAAGCAAATACATCAAT	0.348000														48			12		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34853000	34853000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34853000C>T	uc002lae.2	-	6	1324	c.928G>A	c.(928-930)Gca>Aca	p.A310T	CELF4_uc021uix.1_Missense_Mutation_p.A308T|CELF4_uc021uiy.1_Missense_Mutation_p.A309T|CELF4_uc002lag.2_Missense_Mutation_p.A300T|CELF4_uc002laf.2_Missense_Mutation_p.A305T|CELF4_uc002lai.2_Missense_Mutation_p.A295T|CELF4_uc002lah.2_Missense_Mutation_p.A35T|CELF4_uc002laj.1_Missense_Mutation_p.R145H	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	310	Ala-rich.				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	p.A309P(1)		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						GTCATAGGTGCGGCCGCCAGG	0.657000														132			22		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366623	69366623	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69366623C>T	uc009xpn.1	-	2	407	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_uc001jmw.2_Missense_Mutation_p.R95H|CTNNA3_uc001jmx.4_Missense_Mutation_p.R95H|CTNNA3_uc009xpo.1_Missense_Mutation_p.A11T|CTNNA3_uc001jna.2_Missense_Mutation_p.R107H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	95					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423000														114			24		0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43500515	43500515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43500515C>T	uc001uyw.1	-	6	690	c.614G>A	c.(613-615)aGt>aAt	p.S205N	EPSTI1_uc001uyx.1_Missense_Mutation_p.S205N	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	205										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TTGACAGGCACTTCTGTCTGG	0.433000														250			38		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2794884	2794884	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2794884G>A	uc002lwj.3	+	2	507	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	THOP1_uc010xgz.2_5'Flank	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	118					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGGAGGACGTGTACCAGAG	0.617000														149			48		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100177447	100177447	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100177447G>A	uc021pwv.1	-	19	2223	c.1977C>T	c.(1975-1977)acC>acT	p.T659T	PYROXD2_uc001kpc.3_5'Flank|PYROXD2_uc010qpe.2_5'Flank	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	659					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	p.T659T(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGACAGCCTCGGTTGGGCGGT	0.667000									Hermansky-Pudlak syndrome					101			26		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68479934	68479934	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479934G>T	uc002aqz.3	+	13	1810	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	573	4 X 4 AA repeats of N-T-S-L.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AGATGATCAAGACCTCCTACA	0.463000														114			32		8.88839e-20	1.08155e-19	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37000985	37000985	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000985C>A	uc003jkl.4	+	12	4068	c.3569C>A	c.(3568-3570)cCt>cAt	p.P1190H	NIPBL_uc003jkk.4_Missense_Mutation_p.P1190H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1190					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAACTAACACCTGAAGGTAAC	0.299000														42			9		3.09899e-07	3.33423e-07	1	1	0
GNA11	2767	broad.mit.edu	37	19	3119349	3119349	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3119349A>C	uc002lxd.3	+	5	1123	c.881A>C	c.(880-882)gAg>gCg	p.E294A	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	294					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		TACTTCCCCGAGTTCGATGGT	0.637000			Mis		uveal melanoma									160			40		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25677760	25677760	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25677760G>A	uc003grr.3	+	12	1543	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	SLC34A2_uc003grs.3_Missense_Mutation_p.A487T|SLC34A2_uc010iev.3_Missense_Mutation_p.A487T	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	488					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.A488S(2)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTTGCAGATCGCCCTGTGCCA	0.602000			T	ROS1	NSCLC									94			18		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220366724	220366724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220366724C>T	uc002vlv.3	+	4	769	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	GMPPA_uc002vlr.3_Missense_Mutation_p.R132C	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	132					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		AGCCCACCGACGCCAGCGTCA	0.592000														431			39		0	0	1	0	0
CD207	50489	broad.mit.edu	37	2	71060782	71060782	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71060782C>T	uc002shg.3	-	2	607	c.560G>A	c.(559-561)cGa>cAa	p.R187Q		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	187					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTTACTTTGTCGTTTGAGCAA	0.483000														30			15		0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149419587	149419587	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149419587C>T	uc003wfz.3	+	5	940	c.541C>T	c.(541-543)Cat>Tat	p.H181Y	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_5'Flank	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	181										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTCCCACCCATAGCCCCAG	0.637000														23			4		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1254494	1254494	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1254494G>A	uc001lta.3	+	17	2376	c.2317G>A	c.(2317-2319)Gtg>Atg	p.V773M	MUC5B_uc009yct.2_Missense_Mutation_p.V773M	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	773					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGAGGGCGCCGTGTGGTAAGG	0.697000														27			9		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992884	83992884	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83992884C>A	uc002fha.3	+	3	336	c.336C>A	c.(334-336)atC>atA	p.I112I	OSGIN1_uc002fhb.3_Silent_p.I29I|OSGIN1_uc002fhc.3_Silent_p.I29I	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	112					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CCTCTGGTATCTGCCTGTCCT	0.622000														266			11		4.3838e-07	4.70703e-07	1	1	0
SLCO1A2	6579	broad.mit.edu	37	12	21459897	21459897	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21459897C>T	uc001rer.3	-	3	612	c.361G>A	c.(361-363)Gtt>Att	p.V121I	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.V121I|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR|SLCO1A2_uc001ret.3_Missense_Mutation_p.V119I|SLCO1A2_uc001reu.2_Missense_Mutation_p.V101I	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	121					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTGCCTGAAACTGAAACTGTA	0.363000														50			10		0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1903222	1903222	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1903222G>A	uc002wfq.3	+	4	1378	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SIRPA_uc010zps.2_Missense_Mutation_p.A320T|SIRPA_uc002wfr.3_Missense_Mutation_p.A340T|SIRPA_uc002wfs.3_Missense_Mutation_p.A340T|SIRPA_uc002wft.3_Missense_Mutation_p.A340T	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	340	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.A340V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CGGGCAGCCAGCGGTCAGCAA	0.577000														56			20		0	0	1	0	0
FBXO11	80204	broad.mit.edu	37	2	48037464	48037464	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48037464A>G	uc002rwe.3	-	18	2402	c.2329T>C	c.(2329-2331)Ttt>Ctt	p.F777L	FBXO11_uc010fbl.3_Missense_Mutation_p.F693L|FBXO11_uc010fbk.3_Missense_Mutation_p.F201L	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	777					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGCGGCAAATCCATCAAAT	0.333000			"""Mis, F, D"""		DLBCL									32			4		0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595869	52595869	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52595869C>T	uc001jjj.3	-	5	757	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	A1CF_uc010qho.2_Missense_Mutation_p.R198Q|A1CF_uc010qhn.2_Missense_Mutation_p.R198Q|A1CF_uc009xov.3_Missense_Mutation_p.R190Q|A1CF_uc001jji.3_Missense_Mutation_p.R190Q|A1CF_uc001jjh.3_Missense_Mutation_p.R198Q	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	190	RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGCAGCTGCTCGATGACTCTC	0.498000														173			10		0	0	1	0	0
NEIL3	55247	broad.mit.edu	37	4	178260982	178260982	+	Missense_Mutation	SNP	A	G	G	rs147943632		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178260982A>G	uc003iut.2	+	4	790	c.673A>G	c.(673-675)Ata>Gta	p.I225V	NEIL3_uc010irs.3_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	225					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	p.I225I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CATGAAAATGATACGTGATTT	0.358000								Base excision repair (BER), DNA glycosylases						36			20		0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363697	22363697	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363697A>G	uc002nqs.1	-	2	1140	c.822T>C	c.(820-822)atT>atC	p.I274I		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCAGCATGAATTGCCTTAT	0.393000														99			24		0	0	1	0	0
SLC16A10	117247	broad.mit.edu	37	6	111493992	111493992	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111493992C>A	uc003pus.3	+	1	613	c.438C>A	c.(436-438)gtC>gtA	p.V146V	SLC16A10_uc003pur.4_Silent_p.V146V	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	146					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		AAACAGCTGTCGTGGGTGCTG	0.428000														173			41		1.02591e-13	1.19863e-13	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140603244	140603244	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603244T>C	uc003ljb.3	+	0	167	c.167T>C	c.(166-168)gTg>gCg	p.V56A		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	56	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCTGGGGGTGGAGGAGCTG	0.473000														111			31		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396844	179396844	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396844G>A	uc021vsy.1	-	306	97019	c.96794C>T	c.(96793-96795)gCg>gTg	p.A32265V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A25960V|TTN_uc021vta.1_Missense_Mutation_p.A25893V|TTN_uc021vtb.1_Missense_Mutation_p.A25768V|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33192	Protein kinase.						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)			TAGTCTAGACGCAGATGAGGA	0.453000														71			8		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123485384	123485384	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123485384G>A	uc001uej.1	-	8	1364	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	PITPNM2_uc001uek.1_Missense_Mutation_p.R389C|PITPNM2_uc009zxu.1_Missense_Mutation_p.R389C	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	389					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	p.Y388*(3)		NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GCACCCTGGCGGTACAGACCA	0.637000														77			16		0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880946	53880946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880946G>A	uc001sdn.2	-	1	501	c.230C>T	c.(229-231)gCc>gTc	p.A77V	MAP3K12_uc001sdm.2_Intron	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	46					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GACACTGTTGGCAAAAGGCTC	0.652000														147			36		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67111029	67111029	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67111029C>A	uc002jhw.1	-	12	1831	c.1656G>T	c.(1654-1656)gaG>gaT	p.E552D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	552	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.E552*(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTGATTTCCTCCAAGTCTT	0.328000														106			8		0.000157383	0.000162836	1	1	0
HIST1H1D	3007	broad.mit.edu	37	6	26234584	26234584	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234584G>A	uc003nhd.3	-	0	633	c.578C>T	c.(577-579)gCc>gTc	p.A193V		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	193					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AGGGGCTTTGGCCTTAGCTGG	0.537000														165			47		0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136513182	136513182	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136513182T>G	uc002tur.3	+	4	740	c.429T>G	c.(427-429)acT>acG	p.T143T	UBXN4_uc002tus.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	143					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTAACAACACTTGTGAAAACT	0.398000														77			27		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479076	6479076	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479076G>A	uc001mdh.3	-	5	760	c.364_splice	c.e5-1	p.T122_splice	TRIM3_uc001mdi.3_Splice_Site_p.T122_splice|TRIM3_uc010raj.2_Splice_Site_p.T3_splice|TRIM3_uc009yfd.3_Splice_Site_p.T122_splice|TRIM3_uc010rak.1_Splice_Site_p.T122_splice|TRIM3_uc001mdj.2_Splice_Site_p.T3_splice	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	122					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTCCATCGTCTGCGGTAC	0.602000														185			43		0	0	1	0	0
MORN3	283385	broad.mit.edu	37	12	122097217	122097217	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122097217G>A	uc001uax.3	-	1	354	c.183C>T	c.(181-183)atC>atT	p.I61I	MORN3_uc001uay.3_Non-coding_Transcript	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	61										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CCCCCTCATAGATGGCTCCTT	0.587000														135			20		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784890	140784890	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784890T>G	uc003lkh.2	+	0	2371	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.L791V|PCDHGC5_uc003lki.1_5'Flank|PCDHGC5_uc003lkj.2_5'Flank	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	801					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)			AAATGAGCCTTTGTGCGTCTC	0.443000														146			31		0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585196	42585196	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585196G>A	uc002osk.4	+	1	2943	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	ZNF574_uc002osm.4_Missense_Mutation_p.R813H|ZNF574_uc021uva.1_Missense_Mutation_p.R813H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCAGAACATCGCCGCATCCAC	0.612000														203			56		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42522916	42522916	+	Missense_Mutation	SNP	C	T	T	rs149157808	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42522916C>T	uc003bce.3	-	7	1342	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Missense_Mutation_p.E112K|CYP2D6_uc003bcf.3_Missense_Mutation_p.E367K	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	418							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGGAAGTGTTCGGGGTGGAAG	0.622000														27			7		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459678	92459678	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459678G>A	uc002bqx.2	+	1	837	c.636G>A	c.(634-636)tcG>tcA	p.S212S	SLCO3A1_uc002bqy.2_Silent_p.S212S|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.S154S	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	212					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AGGACTCCTCGCTCTATATAG	0.582000														33			8		0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8791187G>A	uc003srv.3	+	2	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_uc011jxh.2_Missense_Mutation_p.D85N	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	202	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433000														37			10		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832967	61832967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61832967G>A	uc001jky.3	-	36	8010	c.7672C>T	c.(7672-7674)Cgc>Tgc	p.R2558C	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2558					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAGTAAAGCGCATCCACATG	0.408000														163			43		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848163	215848163	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215848163G>A	uc001hku.1	-	62	13477	c.13090C>T	c.(13090-13092)Ctt>Ttt	p.L4364F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4364	Fibronectin type-III 29.				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)		ACGGCCCAAAGATCTGGAGGG	0.473000										HNSCC(13;0.011)				125			41		0	0	1	0	0
SPSB4	92369	broad.mit.edu	37	3	140785540	140785540	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785540C>T	uc003ett.3	+	1	839	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SPSB4_uc010hum.3_Silent_p.G198G	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	198	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding	p.G198C(1)		biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						AGTACCTGGGCGTGGCCTTCC	0.632000														93			13		0	0	1	0	0
CERS5	91012	broad.mit.edu	37	12	50529583	50529583	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50529583G>T	uc001rwd.4	-	7	821	c.804C>A	c.(802-804)ctC>ctA	p.L268L	CERS5_uc001rwc.3_Silent_p.L187L|CERS5_uc001rwe.4_Silent_p.L209L|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_Silent_p.L124L	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	268	TLC.				ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GGGTGTCACAGAGCCGCTGAT	0.448000														119			24		9.57634e-11	1.08211e-10	1	1	0
NOL4	8715	broad.mit.edu	37	18	31463241	31463241	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31463241C>G	uc010dmi.3	-	9	1988	c.1690G>C	c.(1690-1692)Ggt>Cgt	p.G564R	NOL4_uc010xbs.2_Missense_Mutation_p.G279R|NOL4_uc002kxr.4_Missense_Mutation_p.G336R|NOL4_uc010xbt.2_Missense_Mutation_p.G490R|NOL4_uc010dmh.3_Missense_Mutation_p.G426R|NOL4_uc010xbu.2_Missense_Mutation_p.G500R|NOL4_uc002kxt.4_Missense_Mutation_p.G462R	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	564						nucleolus	RNA binding	p.G563E(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTTAGCAGACCCCCTCCTAGC	0.408000														295			21		0	0	1	0	0
PHF12	57649	broad.mit.edu	37	17	27233281	27233281	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27233281G>T	uc002hdg.1	-	14	3465	c.2935C>A	c.(2935-2937)Ctg>Atg	p.L979M	PHF12_uc010wbb.1_Missense_Mutation_p.L961M	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	979					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			CCATCCTGCAGCAGGCTGGCA	0.597000														88			29		9.39395e-14	1.09849e-13	1	1	0
PRSS16	10279	broad.mit.edu	37	6	27222471	27222471	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27222471G>T	uc003nja.3	+	10	1166	c.1151_splice	c.e10-1	p.Y384_splice	PRSS16_uc011dkt.2_Splice_Site|PRSS16_uc003njb.3_Splice_Site_p.Y127_splice|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	384					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCCTACACAGATGTCACCTG	0.502000														202			34		9.04072e-19	1.09469e-18	1	1	0
PREX1	57580	broad.mit.edu	37	20	47324875	47324875	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47324875T>C	uc002xtw.1	-	5	729	c.706A>G	c.(706-708)Aac>Gac	p.N236D		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	236	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TCATTGATGTTGGAGCAAACG	0.617000														467			18		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95174129	95174129	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95174129C>T	uc003htb.4	+	8	1429	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	SMARCAD1_uc003htc.4_Missense_Mutation_p.L418F|SMARCAD1_uc003htd.4_Missense_Mutation_p.L418F|SMARCAD1_uc010ila.3_Missense_Mutation_p.L281F|SMARCAD1_uc011cdw.2_5'Flank	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	418					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		GATAACAGAACTCCGGCCCTT	0.383000														152			27		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90433384	90433384	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90433384T>G	uc001kfg.2	+	6	823	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	LIPF_uc001kfh.2_Missense_Mutation_p.F214V|LIPF_uc010qmt.2_Missense_Mutation_p.F247V|LIPF_uc010qmu.2_Missense_Mutation_p.F204V	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	237					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		ACACAACTTCTTTGATCAATT	0.368000														169			45		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3595695	3595695	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3595695C>T	uc002lyg.2	-	2	1410	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	TBXA2R_uc021umv.1_Intron	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	341					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCTACTGCAGCCCGGAGCGCT	0.701000														15			8		0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36640530	36640530	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36640530C>T	uc001bzz.3	+	5	987	c.771C>T	c.(769-771)aaC>aaT	p.N257N	MAP7D1_uc001caa.3_Silent_p.N257N|MAP7D1_uc001cab.3_Intron|MAP7D1_uc001cac.3_5'UTR|MAP7D1_uc001cad.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	257						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CGGCAGTTAACCTGCCCAAAC	0.612000														90			13		0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92465608	92465608	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92465608G>A	uc001xzy.3	-	12	5242	c.4868C>T	c.(4867-4869)tCc>tTc	p.S1623F	TRIP11_uc010auf.2_Missense_Mutation_p.S1359F	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1623					transcription from RNA polymerase II promoter	Golgi apparatus|cytoskeleton|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCATTAGAGGATGAAACTAG	0.328000			T	PDGFRB	AML									51			12		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159899737	159899737	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159899737G>A	uc001fur.2	-	15	2291	c.2093C>T	c.(2092-2094)gCc>gTc	p.A698V	IGSF9_uc001fuq.2_Missense_Mutation_p.A682V|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	698	Fibronectin type-III 2.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCCGCGAAGGCCACGAGGCG	0.677000														28			7		0	0	1	0	0
P2RY13	53829	broad.mit.edu	37	3	151046196	151046196	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046196A>C	uc003eyv.2	-	1	669	c.648T>G	c.(646-648)atT>atG	p.I216M	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	216						integral to membrane|plasma membrane		p.I195M(1)		biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CAGTCCAGAAAATAAACTGGC	0.358000														76			20		0	0	1	0	0
ARMC1	55156	broad.mit.edu	37	8	66539594	66539594	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66539594C>T	uc003xvl.3	-	1	295	c.40G>A	c.(40-42)Gct>Act	p.A14T	ARMC1_uc011leo.2_5'UTR	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	14					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			ACCGATAGAGCGTCAGGCTCT	0.423000														151			25		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53514557	53514557	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53514557C>A	uc002ehi.4	+	19	3078	c.2960C>A	c.(2959-2961)cCt>cAt	p.P987H	RBL2_uc002ehj.3_Missense_Mutation_p.P697H|RBL2_uc010vgw.2_Intron	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	987	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTCCCACACCTACTCGCCTC	0.512000														171			25		1.42536e-11	1.62618e-11	1	1	0
TACC2	10579	broad.mit.edu	37	10	123843830	123843830	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123843830G>A	uc001lfv.3	+	3	2175	c.1815G>A	c.(1813-1815)aaG>aaA	p.K605K	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.K605K|TACC2_uc010qtv.2_Silent_p.K605K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	605						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCAGCAGCAAGCGTGATCCAG	0.567000														111			17		0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33234660	33234660	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33234660G>T	uc010dmu.3	+	1	87	c.34G>T	c.(34-36)Gcc>Tcc	p.A12S	GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.A12S|GALNT1_uc002kzb.3_Missense_Mutation_p.A12S	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	12					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GGTGGTCCTAGCCACCTCCTT	0.348000														30			8		5.18039e-06	5.47662e-06	1	1	0
PPP1R15A	23645	broad.mit.edu	37	19	49379046	49379046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49379046G>A	uc002pky.4	+	2	2110	c.1841G>A	c.(1840-1842)aGa>aAa	p.R614K		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	614					apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GCCCGGGCCAGAGCCTGGGCA	0.692000														762			61		0	0	1	0	0
SYTL5	94122	broad.mit.edu	37	X	37969635	37969635	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37969635A>C	uc004ddx.3	+	12	1918	c.1562A>C	c.(1561-1563)gAt>gCt	p.D521A	SYTL5_uc004ddu.3_Missense_Mutation_p.D499A|SYTL5_uc004ddv.3_Missense_Mutation_p.D499A	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	499					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TGGCACTATGATCGATTTGGA	0.448000														108			37		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50904432	50904432	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50904432C>T	uc003blh.3	-	8	1164	c.969G>A	c.(967-969)ttG>ttA	p.L323L	SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Silent_p.L324L	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	323					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)		GTGGCTCTGGCAAGGGTGGAA	0.612000														199			42		0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719444	40719444	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40719444G>A	uc002ona.3	+	8	2146	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	620					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAGGCAGAGGATGGAGGCAG	0.721000														59			17		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173878870	173878870	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173878870C>T	uc001gjt.3	-	4	1092	c.973G>A	c.(973-975)Gcc>Acc	p.A325T		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	325					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCTACCTTGGCCAGGCTCTTC	0.562000														285			50		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38947536	38947536	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38947536T>G	uc003jlo.2	-	32	4238	c.4216A>C	c.(4216-4218)Aaa>Caa	p.K1406Q	RICTOR_uc003jlp.2_Missense_Mutation_p.K1382Q|RICTOR_uc010ivf.2_Missense_Mutation_p.K1097Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1382					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTTAAGGCTTTCATGAACCTA	0.328000														58			7		0	0	1	0	0
CHRAC1	54108	broad.mit.edu	37	8	141524478	141524478	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141524478T>G	uc003yvl.3	+	1	360	c.158T>G	c.(157-159)gTt>gGt	p.V53G	CHRAC1_uc010mem.2_Intron|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	53					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAGCTCTTTGTTCAATGCCTA	0.353000														53			12		0	0	1	0	0
TMEM101	84336	broad.mit.edu	37	17	42090467	42090467	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42090467G>A	uc002ieu.3	-	2	400	c.375C>T	c.(373-375)agC>agT	p.S125S	TMEM101_uc010wis.2_Silent_p.S67S	NM_032376	NP_115752	Q96IK0	TM101_HUMAN	Homo sapiens transmembrane protein 101 (TMEM101), mRNA.	125					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCCCAGCACCGCTGGCCAACA	0.622000														87			20		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114090685	114090685	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114090685C>T	uc011lwp.2	-	0	29	c.29G>A	c.(28-30)aGc>aAc	p.S10N		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GAAAAAAATGCTCCAAATGGT	0.388000														61			23		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123600741	123600741	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123600741C>T	uc001lfp.3	-	8	1095	c.1013G>A	c.(1012-1014)gGc>gAc	p.G338D	ATE1_uc001lfq.3_Missense_Mutation_p.G338D|ATE1_uc010qtr.2_Missense_Mutation_p.G223D|ATE1_uc010qts.2_Missense_Mutation_p.G242D|ATE1_uc010qtt.2_Missense_Mutation_p.G331D|ATE1_uc001lfr.3_Missense_Mutation_p.G39D|ATE1_uc009xzu.3_Non-coding_Transcript	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	338					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GTGAAAGGAGCCATAGCCACA	0.408000														38			9		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89039209	89039209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89039209G>A	uc001xww.3	+	5	944	c.719G>A	c.(718-720)aGt>aAt	p.S240N	ZC3H14_uc010twd.2_Missense_Mutation_p.S240N|ZC3H14_uc010twe.2_Missense_Mutation_p.S240N|ZC3H14_uc001xwx.3_Missense_Mutation_p.S240N|ZC3H14_uc010twf.2_Missense_Mutation_p.S85N|ZC3H14_uc001xwy.3_Missense_Mutation_p.S206N|ZC3H14_uc010twg.2_Missense_Mutation_p.S85N|ZC3H14_uc001xxa.3_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	240						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CAGCAGAATAGTATTCATGCT	0.408000														127			30		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951198	30951198	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951198G>A	uc003aig.1	-	3	1154	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	GAL3ST1_uc003aih.1_Silent_p.N338N|GAL3ST1_uc003aii.1_Silent_p.N338N|GAL3ST1_uc010gvz.1_Silent_p.N338N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	338					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCATGCGCTCGTTGGCATGGC	0.716000														98			30		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995119	55995119	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995119G>A	uc021vbv.1	+	0	2547	c.2547G>A	c.(2545-2547)acG>acA	p.T849T	ZNF628_uc002qld.2_Silent_p.T849T|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	849	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		AAGTAACCACGGTCCAGCTCC	0.657000														128			29		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60330860	60330860	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60330860G>T	uc009wad.3	+	18	1789	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	HOOK1_uc001czo.3_Nonsense_Mutation_p.E563*|HOOK1_uc001czp.3_Intron|HOOK1_uc010oor.2_Nonsense_Mutation_p.E521*	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	563					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GGTCCATGAAGAATTACAGAA	0.383000														67			8		4.68919e-08	5.11014e-08	1	1	0
TRAPPC9	83696	broad.mit.edu	37	8	141461131	141461131	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141461131C>T	uc003yvh.2	-	1	651	c.636G>A	c.(634-636)cgG>cgA	p.R212R	TRAPPC9_uc003yvj.2_Silent_p.R114R|TRAPPC9_uc003yvi.1_Silent_p.R114R	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	114					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						AGACAAAGAGCCGGGAGTCAT	0.582000														133			33		0	0	1	0	0
CCDC130	81576	broad.mit.edu	37	19	13869941	13869941	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13869941C>T	uc002mxc.1	+	7	645	c.428C>T	c.(427-429)aCg>aTg	p.T143M		NM_030818	NP_110445	P13994	CC130_HUMAN	Homo sapiens coiled-coil domain containing 130 (CCDC130), mRNA.	143					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			AAGCTGGAGACGGACGCCATG	0.662000														79			12		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11792005	11792005	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11792005G>A	uc010buu.1	-	7	1226	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	TXNDC11_uc002dbg.1_Silent_p.A361A	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	388					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GATGACTTTCGGCCAGGGGAT	0.507000														148			52		0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	400247	400247	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:400247C>T	uc002wdp.4	+	5	1321	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	RBCK1_uc010zpl.1_Missense_Mutation_p.R210W|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Missense_Mutation_p.R168W|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Silent_p.R93R	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	210	Interaction with IRF3.|Interaction with TAB2.				T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CAAGCCCACGCGGCCTGGCTG	0.721000														33			15		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789522	5789522	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5789522C>T	uc002mdc.3	-	2	693	c.596G>A	c.(595-597)cGc>cAc	p.R199H	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	199					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CTGGGTCCCGCGGGCCGCCAA	0.716000														40			7		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30630467	30630467	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30630467C>T	uc003nqz.3	-	8	1693	c.1481G>A	c.(1480-1482)cGc>cAc	p.R494H	DHX16_uc003nqy.3_5'Flank|DHX16_uc011dmo.2_Missense_Mutation_p.R434H	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	494	Helicase ATP-binding.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						TGTCATGTAGCGGAGGACAGT	0.547000														87			19		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59797313	59797313	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59797313A>C	uc001xdz.1	+	12	1592	c.1467A>C	c.(1465-1467)aaA>aaC	p.K489N	DAAM1_uc001xea.1_Missense_Mutation_p.K489N|DAAM1_uc001xeb.1_Missense_Mutation_p.K489N	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	489					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CCTTAAATAAAATGAAAGAGA	0.448000														103			18		0	0	1	0	0
EIF3C	8663	broad.mit.edu	37	16	28734551	28734551	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734551G>A	uc010byj.3	+	8	932	c.843G>A	c.(841-843)aaG>aaA	p.K281K	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_Silent_p.K281K|EIF3C_uc002dqs.4_Silent_p.K281K|EIF3C_uc002dqt.4_Silent_p.K281K|EIF3C_uc010vcy.2_Silent_p.K271K|EIF3C_uc002dqu.4_Silent_p.K281K|EIF3C_uc002dqv.4_Silent_p.K27K	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	281						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						CTAAGAAGAAGCACGACAGGA	0.577000														611			60		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209963840	209963840	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963840C>T	uc001hhq.2	-	7	1364	c.1060_splice	c.e7+1	p.D354_splice	IRF6_uc010psm.2_Splice_Site_p.D259_splice	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	354					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AATGACTTACCGCTAAGGAAT	0.473000										HNSCC(57;0.16)				74			22		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166137	79166137	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79166137G>A	uc002jzp.1	-	20	2812	c.2612C>T	c.(2611-2613)gCc>gTc	p.A871V	AZI1_uc002jzm.1_Missense_Mutation_p.A298V|AZI1_uc002jzn.1_Missense_Mutation_p.A868V|AZI1_uc002jzo.1_Missense_Mutation_p.A832V|AZI1_uc010wum.1_Missense_Mutation_p.A835V|AZI1_uc002jzq.3_Missense_Mutation_p.A19V	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	871					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.A870A(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGCGGCCGGCCTCCCACGC	0.701000														14			6		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42932031	42932031	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42932031A>G	uc002ihn.2	-	21	2413	c.2152T>C	c.(2152-2154)Ttc>Ctc	p.F718L	EFTUD2_uc010wje.1_Missense_Mutation_p.F683L|EFTUD2_uc010wjf.1_Missense_Mutation_p.F708L	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	718						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTGGTCTGGAAGAACTCTCCC	0.577000														112			13		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906549	164906549	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906549G>A	uc003fej.4	-	1	2514	c.2070C>T	c.(2068-2070)agC>agT	p.S690S	SLITRK3_uc003fek.3_Silent_p.S690S|SLITRK3_uc021xgy.1_Silent_p.S690S	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	690						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTGCCGCTTGCTTCTGAAGG	0.562000										HNSCC(40;0.11)				110			22		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290811	103290811	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103290811G>A	uc022ajr.1	-	15	2072	c.1912C>T	c.(1912-1914)Ccc>Tcc	p.P638S	RELN_uc022ajq.1_Missense_Mutation_p.P638S|RELN_uc010liz.3_Missense_Mutation_p.P638S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	638					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAGGAAGGGGAATTGTTATT	0.398000														113			6		0	0	1	0	0
ARAF	369	broad.mit.edu	37	X	47429401	47429401	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47429401G>A	uc011mlp.2	+	13	1723	c.1529G>A	c.(1528-1530)aGc>aAc	p.S510N		NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	510	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CTGCCTTACAGCCACATTGGC	0.587000														30			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454805	179454805	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454805G>T	uc021vsy.1	-	252	54168	c.53943C>A	c.(53941-53943)atC>atA	p.I17981I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.I11676I|TTN_uc021vta.1_Silent_p.I11609I|TTN_uc021vtb.1_Silent_p.I11484I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18908	Fibronectin type-III 30.						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)			TCTTAGCTGAGATGATATACT	0.448000														129			9		0.0581538	0.0584306	1	1	0
MMP24	10893	broad.mit.edu	37	20	33834760	33834760	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33834760G>T	uc002xbu.2	+	1	367	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	122					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CGGGATCCCGGTCACCGGTGT	0.507000														129			26		2.41591e-17	2.89771e-17	1	1	0
AIFM2	84883	broad.mit.edu	37	10	71874688	71874688	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71874688C>T	uc010qjg.2	-	6	974	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	AIFM2_uc021psi.1_Missense_Mutation_p.A320T|AIFM2_uc001jqp.2_Missense_Mutation_p.A320T	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	320					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						GGCTTGTAGGCCTGGAGAGGC	0.567000														70			9		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74276157	74276157	+	Missense_Mutation	SNP	G	A	A	rs146485823	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74276157G>A	uc002jrd.1	-	11	4387	c.4207C>T	c.(4207-4209)Cgc>Tgc	p.R1403C	QRICH2_uc010dgw.1_Missense_Mutation_p.R247C	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1403							protein binding	p.R1403C(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTGGGGGGCGCTCCCTGAGC	0.682000														151			41		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2328417	2328417	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2328417G>A	uc002cpy.1	-	29	5302	c.4590C>T	c.(4588-4590)atC>atT	p.I1530I	ABCA3_uc010bsk.1_Silent_p.I1472I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1530	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGGCTCTCCGATCAGGGCGA	0.637000														173			42		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108366893	108366893	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108366893A>C	uc003dxd.3	+	15	2318	c.1896A>C	c.(1894-1896)gaA>gaC	p.E632D	DZIP3_uc003dxf.1_Missense_Mutation_p.E632D|DZIP3_uc011bhm.2_Missense_Mutation_p.E83D|DZIP3_uc003dxe.1_Missense_Mutation_p.E632D|DZIP3_uc003dxg.1_Missense_Mutation_p.E355D	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	632					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AGTTTGCAGAAATTAATAAAG	0.348000														103			15		0	0	1	0	0
B3GNT6	192134	broad.mit.edu	37	11	76751323	76751323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76751323G>A	uc021qnq.1	+	0	728	c.728G>A	c.(727-729)cGc>cAc	p.R243H	B3GNT6_uc021qnp.1_Missense_Mutation_p.R243H			Q6ZMB0	B3GN6_HUMAN	SubName: Full=Uncharacterized protein;	243					O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						CCACCCGGCCGCCACCTGTTC	0.692000														47			11		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2908487	2908487	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2908487G>A	uc003bpc.3	+	7	845	c.506G>A	c.(505-507)cGc>cAc	p.R169H	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R169H|CNTN4_uc003bpd.1_Missense_Mutation_p.R169H	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	169	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGATAATCGCCGCTTTGTT	0.388000														138			20		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72771827	72771827	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72771827C>A	uc001sxa.3	+	2	1136	c.1106C>A	c.(1105-1107)gCt>gAt	p.A369D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	369					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGGACTATGCTCTCCATATA	0.318000														71			13		2.68362e-12	3.09043e-12	1	1	0
SSPO	23145	broad.mit.edu	37	7	149520498	149520498	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149520498T>G	uc010lpk.3	+	91	13307	c.13307T>G	c.(13306-13308)cTc>cGc	p.L4436R	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4439					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGTGCTGGGCTCTGTGCCACA	0.662000														169			39		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103191850	103191850	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103191850C>T	uc001phn.1	+	81	11983	c.11839C>T	c.(11839-11841)Ctt>Ttt	p.L3947F	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.L3940F	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3940					Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCTTAGAGTTCTTCAGTCATA	0.333000														22			7		0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378244	31378244	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31378244G>A	uc003tch.3	-	1	992	c.639C>T	c.(637-639)agC>agT	p.S213S	NEUROD6_uc022abi.1_Silent_p.S213S	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	213					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						TGAGCTCAGGGCTGTGGTAGG	0.527000														153			30		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77133958	77133958	+	Missense_Mutation	SNP	C	T	T	rs140981029		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77133958C>T	uc002lmx.3	+	27	3145	c.3131C>T	c.(3130-3132)gCc>gTc	p.A1044V	ATP9B_uc002lmw.1_Missense_Mutation_p.A1044V|ATP9B_uc002lna.3_Missense_Mutation_p.A70V|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1044					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CACGTGGTGGCCATCTCCTTC	0.597000														171			36		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115856370	115856370	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115856370G>T	uc003ibu.3	-	5	2207	c.1528C>A	c.(1528-1530)Cta>Ata	p.L510I	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	510	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ACTGGGTTTAGAAGGATTGTG	0.323000														62			21		3.62473e-10	4.06567e-10	1	1	0
BTBD2	55643	broad.mit.edu	37	19	1986857	1986857	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1986857A>G	uc002lup.1	-	7	1388	c.1388T>C	c.(1387-1389)gTc>gCc	p.V463A	BTBD2_uc002luo.1_Missense_Mutation_p.V142A	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	463						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTAGTTGACGTTGGGCAG	0.662000														129			28		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76430117	76430117	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76430117T>C	uc010dhp.2	-	74	12343	c.12218A>G	c.(12217-12219)aAc>aGc	p.N4073S	DNAH17_uc002jvq.3_Missense_Mutation_p.N358S|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTTGGGGTTGGCCTCCAG	0.612000														275			46		0	0	1	0	0
OTP	23440	broad.mit.edu	37	5	76926430	76926430	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76926430C>T	uc003kfg.3	-	2	785	c.637G>A	c.(637-639)Gcc>Acc	p.A213T		NM_032109	NP_115485	Q5XKR4	OTP_HUMAN	Homo sapiens orthopedia homeobox (OTP), mRNA.	213	Poly-Ala.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		CCAGGCATGGCGGCCGCCGCC	0.751000														14			4		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694466	6694466	+	Missense_Mutation	SNP	C	T	T	rs146026441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6694466C>T	uc002mfm.3	-	23	3192	c.3130G>A	c.(3130-3132)Ggg>Agg	p.G1044R		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1044					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCAAGGCCCCCTGCCGCTTC	0.612000														155			22		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012453	57012453	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012453G>T	uc003pdm.1	+	9	1794	c.1570G>T	c.(1570-1572)Gca>Tca	p.A524S	ZNF451_uc003pdl.3_Missense_Mutation_p.A524S|ZNF451_uc003pdn.1_Missense_Mutation_p.A524S|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.A524S	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TCACGGAGGGGCACATTTAAA	0.403000														280			51		8.72198e-27	1.09116e-26	1	1	0
H6PD	9563	broad.mit.edu	37	1	9305205	9305205	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9305205A>G	uc001apt.3	+	1	485	c.212A>G	c.(211-213)aAg>aGg	p.K71R		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	71	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ACAGCCCCCAAGCAGGGTCAA	0.572000														72			17		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961244	1961244	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961244C>T	uc010gaj.3	-	2	732	c.490G>A	c.(490-492)Gct>Act	p.A164T	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.A164T|PDYN_uc021vzt.1_Missense_Mutation_p.A164T|PDYN_uc021vzu.1_Missense_Mutation_p.A164T|PDYN_uc002wfv.3_Missense_Mutation_p.A164T	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	164					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.A164P(2)|p.L163F(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCTCCTCAGCGAGATAGAGT	0.597000														205			31		0	0	1	0	0
IKZF4	64375	broad.mit.edu	37	12	56428846	56428846	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56428846G>T	uc001sjb.1	+	8	1648	c.1489G>T	c.(1489-1491)Gag>Tag	p.E497*	IKZF4_uc010sqa.1_Nonsense_Mutation_p.E450*|IKZF4_uc001sjc.1_Nonsense_Mutation_p.E497*|IKZF4_uc001sjd.1_Nonsense_Mutation_p.E395*|IKZF4_uc009zoi.1_Nonsense_Mutation_p.E452*|IKZF4_uc001sje.1_Nonsense_Mutation_p.E456*	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	Homo sapiens IKAROS family zinc finger 4 (Eos) (IKZF4), mRNA.	497					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			CTACGCCAAAGAGGACCCCAA	0.662000														153			34		1.74807e-11	1.99175e-11	1	1	0
SNX13	23161	broad.mit.edu	37	7	17915361	17915361	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17915361A>C	uc003stv.3	-	5	706	c.493T>G	c.(493-495)Ttt>Gtt	p.F165V	SNX13_uc010kuc.3_5'UTR|SNX13_uc003stw.1_Missense_Mutation_p.F165V|SNX13_uc003stx.1_Missense_Mutation_p.F85V	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	165	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TGTGTGCCAAAGTCATCTACA	0.313000														32			7		0	0	1	0	0
ABHD14A	25864	broad.mit.edu	37	3	52014483	52014483	+	Missense_Mutation	SNP	C	T	T	rs147658919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52014483C>T	uc003dco.3	+	3	582	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	158						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCGGGCGCTGCGGGACCTGGA	0.627000														167			39		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131365846	131365846	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131365846G>A	uc004bvl.4	+	27	3746	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SPTAN1_uc011mbh.2_Missense_Mutation_p.V1214M|SPTAN1_uc004bvm.4_Missense_Mutation_p.V1202M|SPTAN1_uc004bvn.4_Missense_Mutation_p.V1182M	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1202					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGTTCACACCGTGGCCACCTT	0.488000														202			43		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874821	4874821	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874821C>T	uc003snj.1	-	3	1006	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Missense_Mutation_p.R38Q|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	278					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGAGGGGGTCCGCTGGCCCAC	0.677000														54			10		0	0	1	0	0
NUP54	53371	broad.mit.edu	37	4	77036596	77036596	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77036596C>T	uc003hjs.3	-	11	1575	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	NUP54_uc010ije.3_Missense_Mutation_p.D201N|NUP54_uc011cbs.2_Missense_Mutation_p.D303N|NUP54_uc011cbt.2_Missense_Mutation_p.D435N|NUP54_uc003hjt.3_Missense_Mutation_p.D267N	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	483					carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TCTAGATCGTCTTTAATGATG	0.338000														54			7		0	0	1	0	0
KANK2	25959	broad.mit.edu	37	19	11303618	11303618	+	Missense_Mutation	SNP	G	A	A	rs144821191	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303618G>A	uc002mqm.3	-	1	1217	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	KANK2_uc021upe.1_Missense_Mutation_p.R380C|KANK2_uc002mqo.4_Missense_Mutation_p.R380C|KANK2_uc002mqp.1_Missense_Mutation_p.R189C|KANK2_uc002mqq.3_Missense_Mutation_p.R380C	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	380										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCCTGGCTGCGGAACACAGGT	0.642000														164			38		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24878150	24878150	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24878150T>A	uc001wpf.4	+	3	1468	c.1150T>A	c.(1150-1152)Tcc>Acc	p.S384T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	384					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGGCTCCTGTCCCAGGCGTG	0.577000														67			5		0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100091449	100091449	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100091449C>A	uc003uvd.1	+	6	2608	c.2449C>A	c.(2449-2451)Cgg>Agg	p.R817R	NYAP1_uc003uve.1_Silent_p.R600R	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.	817																	CAGCTGGCGGCGGGGACCCGA	0.746000														28			8		1.12685e-05	1.18529e-05	1	1	0
CRIM1	51232	broad.mit.edu	37	2	36691752	36691752	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36691752C>T	uc002rpd.3	+	4	1011	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	315					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	p.G315G(2)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCTCTCGTGGCGATGGGACAC	0.502000														256			51		0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123494407	123494407	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123494407G>A	uc001uej.1	-	4	832	c.633C>T	c.(631-633)atC>atT	p.I211I	PITPNM2_uc001uek.1_Silent_p.I211I|PITPNM2_uc009zxu.1_Silent_p.I211I	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	211					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CGGTGTCGTGGATGAACCTCT	0.582000														274			58		0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31255888	31255888	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31255888C>T	uc001rjt.1	+	23	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_uc001rjr.1_Silent_p.G797G|DDX11_uc001rjs.1_Silent_p.G747G|DDX11_uc001rju.1_Silent_p.G469G|DDX11_uc001rjv.1_Silent_p.G797G|DDX11_uc001rjw.1_Silent_p.G771G|DDX11_uc009zjn.1_Non-coding_Transcript|DDX11_uc009zjo.1_Intron	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	797					G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607000										Multiple Myeloma(12;0.14)				88			14		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27188450	27188450	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27188450G>A	uc001zbd.2	+	9	1498	c.966G>A	c.(964-966)tgG>tgA	p.W322*	GABRA5_uc021sgi.1_Nonsense_Mutation_p.W322*|GABRA5_uc001zbe.1_5'Flank	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	322					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.W322*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCATGGACTGGTTCATAGCCG	0.582000														18			5		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2717701	2717701	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2717701C>A	uc009zdu.1	+	27	3754	c.3441C>A	c.(3439-3441)tcC>tcA	p.S1147S	CACNA1C_uc001qkc.2_Silent_p.S1127S|CACNA1C_uc001qjz.2_Silent_p.S1127S|CACNA1C_uc001qkd.2_Silent_p.S1127S|CACNA1C_uc001qke.2_Silent_p.S1127S|CACNA1C_uc001qkf.2_Silent_p.S1127S|CACNA1C_uc009zdw.1_Silent_p.S1127S|CACNA1C_uc001qkg.2_Silent_p.S1127S|CACNA1C_uc001qkh.2_Silent_p.S1127S|CACNA1C_uc001qkl.2_Silent_p.S1147S|CACNA1C_uc001qkj.2_Silent_p.S1127S|CACNA1C_uc001qkk.2_Silent_p.S1127S|CACNA1C_uc001qkn.2_Silent_p.S1127S|CACNA1C_uc001qkm.2_Silent_p.S1127S|CACNA1C_uc001qko.2_Silent_p.S1147S|CACNA1C_uc001qkp.2_Silent_p.S1127S|CACNA1C_uc001qkq.2_Silent_p.S1127S|CACNA1C_uc001qku.2_Silent_p.S1127S|CACNA1C_uc001qkr.2_Silent_p.S1127S|CACNA1C_uc001qks.2_Silent_p.S1127S|CACNA1C_uc001qkt.2_Silent_p.S1127S|CACNA1C_uc009zdv.1_Silent_p.S1124S|CACNA1C_uc001qkb.2_Silent_p.S1127S|CACNA1C_uc001qka.1_Silent_p.S662S|CACNA1C_uc001qki.1_Silent_p.S863S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1147	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCATCGACTCCCACACGGAAG	0.552000														33			5		0.000602214	0.000618135	1	1	0
GCAT	23464	broad.mit.edu	37	22	38208974	38208974	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38208974C>T	uc003aua.2	+	2	549	c.486C>T	c.(484-486)gaC>gaT	p.D162D	GCAT_uc003atz.3_Silent_p.D136D	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	136					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	GCTGTTATGACGCCAACGCCG	0.567000														127			21		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101136957	101136957	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101136957C>T	uc010qpi.2	+	7	2674	c.2385C>T	c.(2383-2385)agC>agT	p.S795S	CNNM1_uc001kpp.4_Silent_p.S774S|CNNM1_uc009xwf.3_Silent_p.S774S|CNNM1_uc009xwg.3_Silent_p.S174S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	774					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		ACATCCTCAGCGATGTGCAGT	0.562000														32			7		0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	149982884	149982884	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149982884C>T	uc003qmu.1	-	7	3922	c.3374G>A	c.(3373-3375)cGc>cAc	p.R1125H	LATS1_uc010kif.1_Missense_Mutation_p.R1020H	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	1125					G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TACTAGATCGCGATTTTTAAT	0.353000														97			19		0	0	1	0	0
TDRD1	56165	broad.mit.edu	37	10	115985896	115985896	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115985896C>T	uc001lbg.1	+	21	3249	c.3096C>T	c.(3094-3096)acC>acT	p.T1032T	TDRD1_uc001lbf.3_Silent_p.T909T|TDRD1_uc001lbh.1_Silent_p.T1019T|TDRD1_uc001lbi.1_Silent_p.T1023T|TDRD1_uc010qsc.2_Silent_p.T636T|TDRD1_uc001lbj.3_Silent_p.T741T	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	1032	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding	p.E1031K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		ACATTGAAACCCTGCCTCTTT	0.443000														106			30		0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12863439	12863439	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12863439C>T	uc002mux.3	+	0	33	c.33C>T	c.(31-33)aaC>aaT	p.N11N		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	11					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GAGTGGCGAACGCCCGCTTCG	0.652000														135			19		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38743659	38743659	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38743659C>A	uc021yzh.1	+	12	2003	c.1894C>A	c.(1894-1896)Ctg>Atg	p.L632M	DNAH8_uc003ooe.2_Missense_Mutation_p.L415M	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGACATTCTGGATCCAAG	0.294000														124			18		1.2644e-06	1.3491e-06	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109773399	109773399	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109773399C>T	uc021xqo.1	-	24	1438	c.1382G>A	c.(1381-1383)gGg>gAg	p.G461E	COL25A1_uc003hze.1_Missense_Mutation_p.G461E|COL25A1_uc021xqp.1_Missense_Mutation_p.G461E|COL25A1_uc003hzg.3_Missense_Mutation_p.G461E|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G219E	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	461	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AACCTTTGGCCCTTGTAGTCC	0.338000														74			5		0	0	1	0	0
NUDT18	79873	broad.mit.edu	37	8	21965776	21965776	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21965776C>A	uc003xaq.1	-	2	887	c.244G>T	c.(244-246)Gag>Tag	p.E82*	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 18 (NUDT18), mRNA.	82	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		ACGATGGTCTCCCCTGGCTCC	0.672000														21			4		0.00909568	0.00920877	1	1	0
PILRA	29992	broad.mit.edu	37	7	99971341	99971341	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99971341C>A	uc003uuo.1	+	0	274	c.62C>A	c.(61-63)cCt>cAt	p.P21H	PILRA_uc011kjn.1_Missense_Mutation_p.P21H|PILRA_uc011kjo.2_Missense_Mutation_p.P21H|PILRA_uc003uup.1_Missense_Mutation_p.P21H|PILRA_uc003uuq.1_Missense_Mutation_p.P21H	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	21					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTCTGCAGCCTAGTGAGTAC	0.647000														195			24		1.10923e-09	1.2355e-09	1	1	0
BANP	54971	broad.mit.edu	37	16	88066767	88066767	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88066767G>A	uc002fkr.3	+	8	1313	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	BANP_uc010vov.2_Silent_p.P339P|BANP_uc002fkq.3_Silent_p.P333P|BANP_uc002fks.4_Silent_p.P333P|BANP_uc002fkp.3_Silent_p.P333P|BANP_uc010vow.2_Silent_p.P372P|BANP_uc021tml.1_Silent_p.P372P|BANP_uc002fko.1_Silent_p.P269P	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	364	DNA-binding (By similarity).|Gln-rich.				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AGCCACAGCCGCAGCCGCAGG	0.627000														102			6		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106857272	106857272	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106857272G>T	uc001tlp.3	+	22	2809	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	POLR3B_uc001tlq.3_Missense_Mutation_p.D805Y	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	863					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.D863N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGAGCAACAGACTCATATAT	0.378000														70			14		0.00244969	0.00249783	1	1	0
MICAL2	9645	broad.mit.edu	37	11	12264276	12264276	+	Missense_Mutation	SNP	C	T	T	rs146142372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12264276C>T	uc001mjz.3	+	19	2903	c.2615C>T	c.(2614-2616)gCg>gTg	p.A872V	MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.3_Missense_Mutation_p.A872V|MICAL2_uc010rci.2_Missense_Mutation_p.A872V|MICAL2_uc001mkb.3_Intron|MICAL2_uc001mkc.3_Intron|MICAL2_uc001mkd.3_Intron|MICAL2_uc010rcj.2_Intron|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	872						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AAGGAGAAGGCGGCTCACCTT	0.517000														120			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598068	179598068	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598068G>T	uc021vsy.1	-	50	12445	c.12220C>A	c.(12220-12222)Ctc>Atc	p.L4074I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L735I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5001							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)			TAAAATTTGAGCTGGGCAACA	0.448000														146			28		6.12954e-19	7.42566e-19	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21529773	21529773	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21529773G>A	uc002kuq.3	+	70	9482	c.9396G>A	c.(9394-9396)caG>caA	p.Q3132Q	LAMA3_uc002kur.3_Silent_p.Q3076Q|LAMA3_uc002kus.4_Silent_p.Q1523Q|LAMA3_uc002kut.4_Silent_p.Q1467Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3132	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACTTTCAGCTGGATTCAA	0.473000														92			13		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32544209	32544209	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32544209A>G	uc003zrb.3	-	2	506	c.314T>C	c.(313-315)aTa>aCa	p.I105T	TOPORS_uc003zrc.3_Missense_Mutation_p.I40T	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	105	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATCCAAGCATATAGGACACTT	0.393000														124			31		0	0	1	0	0
PRSS16	10279	broad.mit.edu	37	6	27218821	27218821	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27218821T>C	uc003nja.3	+	6	607	c.592_splice	c.e6-1	p.F198_splice	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Splice_Site_p.F88_splice|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	198					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCCTTAGTTCCCCCATCT	0.592000														219			44		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53907062	53907062	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53907062C>T	uc003dhd.3	-	8	1259	c.1158G>A	c.(1156-1158)ctG>ctA	p.L386L	ACTR8_uc003dhb.3_Silent_p.L91L|ACTR8_uc003dhc.3_Silent_p.L275L	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	386					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AAGTTACCTGCAGTTTTTCAT	0.428000														31			6		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12958425	12958425	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12958425G>T	uc002mvm.3	+	6	617	c.489_splice	c.e6-1	p.S163_splice	MAST1_uc021upp.1_Splice_Site	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	163					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCTCCCCGCAGCCCCGGGCGC	0.617000											OREG0025277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			19		1.2644e-06	1.3491e-06	1	1	0
TSLP	85480	broad.mit.edu	37	5	110409278	110409278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110409278G>A	uc003kpb.2	+	2	485	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TSLP_uc003kpa.2_Non-coding_Transcript	NM_033035	NP_149024	Q969D9	TSLP_HUMAN	Homo sapiens thymic stromal lymphopoietin (TSLP), transcript variant 1, mRNA.	96						extracellular space	cytokine activity	p.E96*(2)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCTCGCCAAAGAAATGTTCGC	0.522000														273			52		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26761510	26761510	+	Silent	SNP	C	T	T	rs149968977		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26761510C>T	uc003acb.3	+	12	2968	c.2772C>T	c.(2770-2772)aaC>aaT	p.N924N	SEZ6L_uc003acd.3_Silent_p.N860N|SEZ6L_uc011akd.2_Silent_p.N924N|SEZ6L_uc003ace.3_Intron|SEZ6L_uc011akc.2_Silent_p.N924N|SEZ6L_uc003acc.3_Silent_p.N924N|SEZ6L_uc003acf.1_Silent_p.N697N|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.2_Non-coding_Transcript	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	924	Sushi 5.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACTGGAACGGGCCCCTGC	0.577000														116			14		0	0	1	0	0
METTL13	51603	broad.mit.edu	37	1	171759640	171759640	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171759640C>T	uc001ghz.3	+	4	1705	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	METTL13_uc001gia.3_Missense_Mutation_p.A367V|METTL13_uc001gib.3_Missense_Mutation_p.A297V|METTL13_uc010pml.2_Missense_Mutation_p.A452V	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	453							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						CCTGCTGATGCGGAGGACCTC	0.532000														178			59		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913316	36913316	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36913316G>A	uc002odz.1	+	0		c.1241G>A								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TGGATATAAAGAATGATCTTG	0.468000														48			12		0	0	1	0	0
HPS1	3257	broad.mit.edu	37	10	100178003	100178003	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100178003G>A	uc021pwv.1	-	18	2115	c.1869C>T	c.(1867-1869)ctC>ctT	p.L623L		NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	623					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CGATCATCTGGAGTTTGTACC	0.637000									Hermansky-Pudlak syndrome					160			8		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990414	15990414	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990414C>A	uc002nbs.1	-	11	1364	c.1314_splice	c.e11+1	p.E438_splice	CYP4F2_uc010xot.1_Splice_Site_p.E289_splice	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	438					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCCCCGCACCTCAGGGTCCG	0.562000														217			47		2.64894e-19	3.21481e-19	1	1	0
SLC5A9	200010	broad.mit.edu	37	1	48705156	48705156	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48705156G>A	uc001crn.2	+	12	1751	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	SLC5A9_uc001cro.2_Missense_Mutation_p.A542T|SLC5A9_uc010omt.1_Missense_Mutation_p.A556T|SLC5A9_uc001crp.2_Missense_Mutation_p.A209T|SLC5A9_uc010omu.1_Missense_Mutation_p.A209T|SLC5A9_uc009vyt.1_Non-coding_Transcript	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	542						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CGGGCTCACTGCCATCGTCAT	0.567000														255			27		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134219145	134219145	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134219145T>C	uc001lll.4	+	1	1170	c.1141T>C	c.(1141-1143)Tct>Cct	p.S381P	PWWP2B_uc009ybe.3_Missense_Mutation_p.S381P	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	381										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GGCGGACTTGTCTTCTGGAAG	0.677000														191			51		0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	677962	677962	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:677962G>A	uc003jbg.4	-	0	932	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	TPPP_uc003jbh.4_Missense_Mutation_p.H72Y	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	72	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TTCTTGCCGTGCATCTCCCTC	0.642000														126			28		0	0	1	0	0
FGF2	2247	broad.mit.edu	37	4	123813399	123813399	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123813399C>T	uc003iev.1	+	2	783	c.715C>T	c.(715-717)Cga>Tga	p.R239*		NM_002006	NP_001997	P09038	FGF2_HUMAN	Homo sapiens fibroblast growth factor 2 (basic) (FGF2), mRNA.	239					Ras protein signal transduction|activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	CTTTTTTGAACGATTGGAATC	0.313000														132			23		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34205676	34205676	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34205676G>A	uc021uiv.1	+	9	1257	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	FHOD3_uc002kzr.1_Missense_Mutation_p.S387N|FHOD3_uc002kzs.1_Missense_Mutation_p.S387N|FHOD3_uc002kzt.1_Missense_Mutation_p.S387N|FHOD3_uc002kzu.1_Missense_Mutation_p.S212N|FHOD3_uc010dmz.1_Missense_Mutation_p.S140N	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	387	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TCAGCTCCCAGCTTCAAGCCC	0.607000														344			29		0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	147744092	147744092	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147744092C>T	uc004fcp.3	+	2	1323	c.844C>T	c.(844-846)Cag>Tag	p.Q282*	AFF2_uc004fco.3_Nonsense_Mutation_p.Q278*|AFF2_uc004fcq.3_Nonsense_Mutation_p.Q278*|AFF2_uc004fcr.3_Nonsense_Mutation_p.Q278*|AFF2_uc011mxb.2_Nonsense_Mutation_p.Q282*|AFF2_uc004fcs.3_Nonsense_Mutation_p.Q278*	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	282					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCATGGGGCAGCAAAAGCC	0.507000														186			48		0	0	1	0	0
DDX18	8886	broad.mit.edu	37	2	118583136	118583136	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118583136C>T	uc002tlh.1	+	9	1581	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	494	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCCTGAAGTCGACTGGATTG	0.438000														147			9		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725591	28725591	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28725591G>A	uc002kwn.3	-	6	1184	c.922C>T	c.(922-924)Cct>Tct	p.P308S	DSC1_uc002kwm.3_Missense_Mutation_p.P308S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	308	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.T307I(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCCAGAAAAGGTGTAGTTGTG	0.373000														100			24		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461430	70461430	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70461430T>G	uc002lkw.3	-	5	845	c.561A>C	c.(559-561)caA>caC	p.Q187H	NETO1_uc002lky.2_Missense_Mutation_p.Q187H	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	187	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCTTCATAATTTGTATAGACT	0.438000														149			24		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239656	126239656	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239656A>G	uc003ifj.4	+	0	2090	c.2090A>G	c.(2089-2091)cAc>cGc	p.H697R		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	697	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACTTTGCTCACATTAAGGAG	0.478000														127			26		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237629	29237629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29237629G>A	uc001wqe.3	+	0	1343	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	382					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCTCACGGCCGCCGCGCTAGC	0.701000														137			39		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046403	1046403	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046403C>T	uc002lqw.4	+	12	1851	c.1620C>T	c.(1618-1620)gaC>gaT	p.D540D	ABCA7_uc010dsb.1_Silent_p.D402D	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	540					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.D539D(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTGGACGACGTGTGAGCTC	0.701000														659			48		0	0	1	0	0
NUP93	9688	broad.mit.edu	37	16	56867301	56867301	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56867301G>A	uc002eka.3	+	12	1641	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	NUP93_uc002ekb.3_Missense_Mutation_p.G384E|NUP93_uc010vhi.2_Missense_Mutation_p.G384E	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	507					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AAGTCCTCTGGACAGAGTGCT	0.537000														94			20		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32852676	32852676	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32852676C>T	uc001utx.3	+	57	8956	c.8460C>T	c.(8458-8460)tcC>tcT	p.S2820S	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.S345S|FRY_uc010tdx.2_Silent_p.S190S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAGGGGACTCCGAAGAAAAGG	0.428000														147			21		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441580	58441580	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58441580C>T	uc002yaz.3	-	38	4329	c.4190G>A	c.(4189-4191)aGa>aAa	p.R1397K		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1397					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATTCATTGTTCTCAGATGTTG	0.308000														52			5		0	0	1	0	0
NDE1	54820	broad.mit.edu	37	16	15781279	15781279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15781279C>T	uc002ddt.1	+	3	477	c.434C>T	c.(433-435)gCc>gTc	p.A145V	NDE1_uc010uzy.2_Missense_Mutation_p.A145V|NDE1_uc002dds.3_Missense_Mutation_p.A145V|NDE1_uc002ddu.1_Missense_Mutation_p.A82V	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	145	Interaction with PAFAH1B1 (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						TTGAATCAGGCCATCGAAAGA	0.498000														111			28		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510724	4510724	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510724C>A	uc002mar.1	-	2	3206	c.3206G>T	c.(3205-3207)aGc>aTc	p.S1069I	PLIN4_uc010dub.1_Missense_Mutation_p.S93I	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1069						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTCTTGGGGGCTCAGGGCAGT	0.642000														90			8		0.0381472	0.038366	1	1	0
ANK2	287	broad.mit.edu	37	4	114282046	114282046	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114282046C>A	uc003ibe.4	+	38	10849	c.10749C>A	c.(10747-10749)agC>agA	p.S3583R	ANK2_uc003ibd.4_Missense_Mutation_p.S1489R|ANK2_uc003ibf.4_Missense_Mutation_p.S1498R|ANK2_uc011cgc.2_Missense_Mutation_p.S674R|ANK2_uc003ibg.4_Missense_Mutation_p.S482R|ANK2_uc003ibh.4_Missense_Mutation_p.S172R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3550	Death.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGGCTTCAGCTGGACAGGTA	0.463000														23			3		0.115264	0.115636	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5965437	5965437	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5965437C>T	uc001alq.2	-	14	2138	c.1870G>A	c.(1870-1872)Gaa>Aaa	p.E624K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	624					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GTCACAGGTTCTGTAGCGCTG	0.512000														190			56		0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124034607	124034607	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124034607C>T	uc001lgc.1	+	1	262	c.11C>T	c.(10-12)tCg>tTg	p.S4L	BTBD16_uc001lgd.1_Missense_Mutation_p.S2L	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	4										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)				ATGATAATGTCGAACACGGTG	0.393000														132			26		0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49052677	49052677	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:49052677G>T	uc010omx.1	-	11	1461	c.1303_splice	c.e11+1	p.Y435_splice	AGBL4_uc001cru.2_Splice_Site_p.Y423_splice|AGBL4_uc010omw.1_Splice_Site_p.Y156_splice|AGBL4_uc010omy.1_Silent_p.A245A|AGBL4_uc001crv.1_Silent_p.A275A	NM_032785	NP_116174	Q5VU57	CBPC6_HUMAN	Homo sapiens ATP/GTP binding protein-like 4 (AGBL4), mRNA.	423					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		TAAGGATACAGGCTTCTTCAG	0.567000														27			3		0.115264	0.115636	1	1	0
BBS12	166379	broad.mit.edu	37	4	123664001	123664001	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123664001C>T	uc021xrm.1	+	2	1335	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BBS12_uc003ieu.3_Silent_p.C318C|BBS12_uc021xrn.1_Silent_p.C318C	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	318					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						TTTTCACTTGCTGTCTACCAG	0.378000									Bardet-Biedl syndrome					51			10		0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39872089	39872089	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39872089G>T	uc002hxl.3	+	2	338	c.271G>T	c.(271-273)Gac>Tac	p.D91Y	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	91						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGGATGGATGGACTTCGGCCG	0.572000														159			36		4.14481e-20	5.0508e-20	1	1	0
NPHP3	27031	broad.mit.edu	37	3	132294689	132294689	+	Missense_Mutation	SNP	G	A	A	rs147225179		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132294689G>A	uc003eov.4	-	16	2308	c.1928C>T	c.(1927-1929)gCg>gTg	p.A643V		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCGCGTTCCGCCAAACCTAC	0.463000														100			19		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115272879	115272879	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272879C>A	uc001efi.3	-	13	2016	c.1494_splice	c.e13+1	p.K498_splice	CSDE1_uc001efj.3_Splice_Site|CSDE1_uc001efk.3_Splice_Site_p.K452_splice|CSDE1_uc001efm.3_Splice_Site_p.K467_splice|CSDE1_uc009wgv.3_Splice_Site_p.K452_splice|CSDE1_uc001efl.3_Splice_Site_p.K421_splice|CSDE1_uc001efn.3_Splice_Site_p.K421_splice	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	452	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CAAAACCTACCTTCTCTTTGC	0.373000														104			12		2.80697e-09	3.10977e-09	1	1	0
HSPA13	6782	broad.mit.edu	37	21	15747996	15747996	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15747996A>G	uc002yjt.3	-	3	794	c.725T>C	c.(724-726)aTg>aCg	p.M242T	HSPA13_uc011abx.2_Missense_Mutation_p.M34T	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	242						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GGTTAGAAACATCCCTCCTTG	0.532000														128			35		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60900582	60900582	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60900582C>T	uc002ycq.3	-	40	5386	c.5319G>A	c.(5317-5319)gaG>gaA	p.E1773E	LAMA5_uc021wfw.1_Silent_p.E1773E	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1773	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGCGCGTCTCCGTATGCC	0.617000														64			12		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135079029	135079029	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135079029A>G	uc003vsv.2	-	9	1599	c.1268T>C	c.(1267-1269)cTg>cCg	p.L423P	CNOT4_uc011kpy.2_Missense_Mutation_p.L423P|CNOT4_uc011kpz.2_Missense_Mutation_p.L420P|CNOT4_uc003vst.3_Missense_Mutation_p.L423P|CNOT4_uc003vss.3_Missense_Mutation_p.L420P|CNOT4_uc003vsu.2_Missense_Mutation_p.L420P	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	423					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TTGAACGGACAGTTCCTTCTC	0.488000														155			31		0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912325	87912325	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87912325A>C	uc022agz.1	-	3	838	c.615T>G	c.(613-615)taT>taG	p.Y205*	STEAP4_uc003ujs.3_Nonsense_Mutation_p.Y205*|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	205					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CAGCAGACAAATAGAAGGGGA	0.388000														112			16		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52622689	52622689	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622689G>A	uc003pay.3	-	1	207	c.57C>T	c.(55-57)atC>atT	p.I19I		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	19	GST N-terminal.			I -> T (in Ref. 6; AA sequence).	glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGAGCCACCGGATGGACTCCA	0.488000														130			29		0	0	1	0	0
CASP4	837	broad.mit.edu	37	11	104820346	104820346	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104820346G>T	uc001pid.1	-	4	778	c.705C>A	c.(703-705)ttC>ttA	p.F235L	CASP4_uc001pib.1_Missense_Mutation_p.F179L|CASP4_uc009yxg.1_Missense_Mutation_p.F144L|CASP4_uc010rux.1_Missense_Mutation_p.F235L	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	235					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding	p.F235F(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGAATATCTGGAAGATGGTGT	0.483000														175			37		3.33393e-15	3.94119e-15	1	1	0
TUBD1	51174	broad.mit.edu	37	17	57963577	57963577	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57963577C>T	uc002ixw.2	-	2	475	c.187G>A	c.(187-189)Gct>Act	p.A63T	TUBD1_uc010wok.2_Missense_Mutation_p.A63T|TUBD1_uc010ddf.2_Missense_Mutation_p.A63T|TUBD1_uc010wol.2_Intron|TUBD1_uc010ddg.2_Missense_Mutation_p.A28T|TUBD1_uc010ddi.2_Intron|TUBD1_uc010ddh.2_5'UTR|TUBD1_uc002ixx.2_Missense_Mutation_p.A63T	NM_016261	NP_001180542	Q9UJT1	TBD_HUMAN	Homo sapiens tubulin, delta 1 (TUBD1), transcript variant 1, mRNA.	63					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACAAGAACAGCCCGGGCAATT	0.413000														74			7		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50348221	50348221	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50348221G>A	uc002egd.1	+	22	3143	c.2875G>A	c.(2875-2877)Gcc>Acc	p.A959T		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	959	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGGCAGCATGCCCACATTGG	0.617000														100			15		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54925319	54925319	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54925319C>T	uc002iur.3	+	4	961	c.781C>T	c.(781-783)Cta>Tta	p.L261L	DGKE_uc002ius.1_Silent_p.L261L	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	261	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TATCAAAGCCCTACAACTCTG	0.383000														83			6		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202698939	202698939	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202698939T>C	uc009xag.3	-	26	4617	c.4501A>G	c.(4501-4503)Act>Gct	p.T1501A	KDM5B_uc001gyf.3_Missense_Mutation_p.T1465A|KDM5B_uc001gyg.1_Missense_Mutation_p.T1307A	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1465					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGAATGAGTTTCAGCAGAA	0.483000														241			79		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24533163	24533163	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24533163C>A	uc002rfe.2	-	6	901	c.643G>T	c.(643-645)Gga>Tga	p.G215*	ITSN2_uc002rff.2_Nonsense_Mutation_p.G215*|ITSN2_uc002rfg.3_Nonsense_Mutation_p.G215*|ITSN2_uc010eyd.2_Nonsense_Mutation_p.G215*	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	215					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACTAGATCCTAAATCAATC	0.343000														319			51		1.63038e-21	2.00258e-21	1	1	0
COL17A1	1308	broad.mit.edu	37	10	105801279	105801279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105801279C>T	uc001kxr.3	-	36	2738	c.2569G>A	c.(2569-2571)Ggt>Agt	p.G857S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	857	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGACCTTGTAAATTA	0.522000														77			13		0	0	1	0	0
ZNF774	342132	broad.mit.edu	37	15	90904469	90904469	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90904469G>A	uc002bpk.4	+	3	1592	c.1406G>A	c.(1405-1407)cGt>cAt	p.R469H		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	Homo sapiens zinc finger protein 774 (ZNF774), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R469C(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1)	14	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAGAGCTTCCGTCAGAAAGCG	0.433000														143			29		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73790432	73790432	+	Silent	SNP	C	T	T	rs138546692		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73790432C>T	uc003uam.3	+	9	2028	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	CLIP2_uc003uan.3_Silent_p.Y532Y|CLIP2_uc003uao.3_5'UTR	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	567						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGATAAATACGAGAAGGCCC	0.657000														84			15		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222194	42222194	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42222194T>A	uc002orl.3	+	5	1506	c.1385T>A	c.(1384-1386)cTc>cAc	p.L462H	CEACAM5_uc002orj.1_Missense_Mutation_p.L461H	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	462	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		ACACAAGAGCTCTTTATCTCC	0.517000														130			34		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100006218	100006218	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006218G>T	uc003uut.3	-	9	1181	c.933C>A	c.(931-933)gcC>gcA	p.A311A	ZCWPW1_uc011kjq.2_Silent_p.A191A|ZCWPW1_uc003uur.3_Silent_p.A191A|ZCWPW1_uc003uus.3_Silent_p.A191A|ZCWPW1_uc011kjr.2_Silent_p.A311A|ZCWPW1_uc003uuu.1_Silent_p.A312A|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	311							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGAGGCATAGGCCACATCAC	0.502000														136			40		3.61848e-18	4.36538e-18	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52474045	52474045	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52474045G>T	uc003dea.1	-	10	1213	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	405	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GCAAACTGCAGCACCTCATCT	0.637000														158			35		2.51541e-25	3.13464e-25	1	1	0
MYLK	4638	broad.mit.edu	37	3	123452821	123452821	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123452821G>T	uc003ego.3	-	9	1304	c.1022C>A	c.(1021-1023)aCt>aAt	p.T341N	MYLK_uc011bjw.2_Missense_Mutation_p.T341N|MYLK_uc003egp.3_Missense_Mutation_p.T341N|MYLK_uc003egq.3_Missense_Mutation_p.T341N|MYLK_uc003egr.3_Missense_Mutation_p.T341N|MYLK_uc003egs.3_Missense_Mutation_p.T165N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	341					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCTGGAAGTCTTCTGAAG	0.622000														286			25		4.26978e-12	4.90093e-12	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170732	214170732	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170732A>G	uc001hkh.3	+	1	1126	c.854A>G	c.(853-855)gAt>gGt	p.D285G	PROX1_uc001hkg.1_Missense_Mutation_p.D285G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	285					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGATCCTGGATGCCAGGGCC	0.512000														107			27		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406812	50406812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406812C>T	uc002xwh.4	-	1	2311	c.2210G>A	c.(2209-2211)gGt>gAt	p.G737D	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	737					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGGCAGGACCCACTTTCCC	0.597000														97			12		0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32574558	32574558	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32574558C>A	uc003cfb.4	-	7	1104	c.1000G>T	c.(1000-1002)Gga>Tga	p.G334*	DYNC1LI1_uc011axh.2_Nonsense_Mutation_p.G218*	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	334					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TGTAATATTCCTATTTTCTTA	0.294000														23			6		0.0293803	0.0295844	1	1	0
AK022914	0	broad.mit.edu	37	14	19857058	19857058	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19857058C>A	uc001vvq.1	-	4		c.472G>T								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		AGTTCAAATTCTCCACCAACC	0.353000														63			11		0.000673444	0.000690401	1	1	0
KCNH4	23415	broad.mit.edu	37	17	40318495	40318495	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318495G>T	uc002hzb.2	-	9	1993	c.1660C>A	c.(1660-1662)Ctg>Atg	p.L554M		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	554					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACAACGGCAGCTGCAGGATC	0.607000														103			8		0.00307968	0.00313564	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542171	133542171	+	Missense_Mutation	SNP	T	C	C	rs146403790	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133542171T>C	uc002ttp.3	-	13	2587	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	738							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTCTCAGTGTCCTCTTCAGA	0.428000														100			6		0	0	1	0	0
HES2	54626	broad.mit.edu	37	1	6479365	6479365	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6479365G>T	uc001amx.3	-	2	276	c.177C>A	c.(175-177)gtC>gtA	p.V59V	HES2_uc001amw.3_Intron	NM_019089	NP_061962	Q9Y543	HES2_HUMAN	Homo sapiens hairy and enhancer of split 2 (Drosophila) (HES2), mRNA.	59	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				lung(1)|ovary(1)	2	Ovarian(185;0.0634)|all_lung(157;0.154)	all_cancers(23;1.05e-30)|all_epithelial(116;1.37e-17)|all_hematologic(16;1.81e-05)|all_lung(118;2.27e-05)|Acute lymphoblastic leukemia(12;4.98e-05)|Lung NSC(185;9.97e-05)|Colorectal(325;0.0002)|all_neural(13;0.000531)|Renal(390;0.00188)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.02e-35)|GBM - Glioblastoma multiforme(13;1.75e-28)|Colorectal(212;6.1e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000888)|BRCA - Breast invasive adenocarcinoma(365;0.00106)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TCATTTCCAGGACGTCTGCCT	0.652000														81			7		8.12818e-05	8.44191e-05	1	1	0
FANCD2	2177	broad.mit.edu	37	3	10107141	10107141	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10107141G>A	uc003buw.3	+	23	2310	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_uc003bux.1_Silent_p.Q744Q|FANCD2_uc003buy.1_Silent_p.Q744Q|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	744					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					159			39		0	0	1	0	0
ZNF460	10794	broad.mit.edu	37	19	57802419	57802419	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802419C>A	uc002qog.2	+	2	832	c.510C>A	c.(508-510)tcC>tcA	p.S170S	ZNF460_uc010ygv.1_Silent_p.S129S	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	170					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGAAAATTCCTATAAATTCG	0.413000														179			35		1.61788e-16	1.92999e-16	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156631699	156631699	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156631699C>T	uc003iov.3	+	6	918	c.382C>T	c.(382-384)Cca>Tca	p.P128S	GUCY1A3_uc003iou.2_Missense_Mutation_p.P128S|GUCY1A3_uc010iqc.2_Missense_Mutation_p.P128S|GUCY1A3_uc010iqd.3_Missense_Mutation_p.P127S|GUCY1A3_uc003iow.3_Missense_Mutation_p.P128S|GUCY1A3_uc003iox.3_Missense_Mutation_p.P128S|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.P128S|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.P128S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	128					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCAGGAGTTCCAGTGGAGGT	0.388000														65			13		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28493652	28493652	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28493652G>A	uc002dpo.3	-	11	1281	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.R242C|CLN3_uc002dpm.3_Missense_Mutation_p.R266C|CLN3_uc010vcu.2_Missense_Mutation_p.R220C|CLN3_uc010vcv.2_Missense_Mutation_p.R296C|CLN3_uc002dpp.3_Missense_Mutation_p.R320C|CLN3_uc021tfs.1_Missense_Mutation_p.R167C|CLN3_uc002dpt.1_Missense_Mutation_p.R220C|CLN3_uc002dpq.1_Missense_Mutation_p.R272C|CLN3_uc010bye.1_Missense_Mutation_p.R303C|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R193C|CLN3_uc002dpu.1_Missense_Mutation_p.R218C|CLN3_uc002dpw.1_Missense_Mutation_p.R167C|CLN3_uc010vcw.1_Missense_Mutation_p.R266C|CLN3_uc002dqa.2_3'UTR|CLN3_uc010vcx.1_3'UTR	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	320					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						TCTTACCAGCGGTATTGCTGA	0.617000														69			19		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42874461	42874461	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42874461T>C	uc002otl.4	+	37	7389	c.6754T>C	c.(6754-6756)Tta>Cta	p.L2252L	MEGF8_uc002otm.4_Silent_p.L1860L|MEGF8_uc002otn.4_5'UTR	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2319						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGAAGGAGTTACAAATGTC	0.592000														46			9		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119592129	119592129	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119592129G>A	uc001txa.2	+	11	1861	c.1473G>A	c.(1471-1473)tcG>tcA	p.S491S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	491	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGTCCTACTCGCCTATGAGAA	0.667000														46			11		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201337290	201337290	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201337290C>A	uc001gwf.3	-	6	232	c.163_splice	c.e6+1	p.E55_splice	TNNT2_uc021phc.1_Splice_Site_p.E45_splice|TNNT2_uc001gwg.3_Splice_Site_p.E45_splice|TNNT2_uc001gwh.3_Splice_Site_p.E36_splice|TNNT2_uc001gwi.3_Splice_Site_p.D55_splice|TNNT2_uc009wzr.3_Splice_Site|TNNT2_uc009wzs.1_5'Flank|TNNT2_uc001gwk.1_Splice_Site|TNNT2_uc009wzt.1_Splice_Site_p.E45_splice|TNNT2_uc001gwl.1_Splice_Site	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	55					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						AGAGACTTACCTTCTGCCCTG	0.597000														157			36		2.1956e-27	2.75044e-27	1	1	0
MUC16	94025	broad.mit.edu	37	19	8995635	8995635	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8995635C>T	uc002mkp.3	-	63	41557	c.41353_splice	c.e63+1	p.A13785_splice	MUC16_uc010dwi.3_Intron|MUC16_uc010dwj.3_Splice_Site_p.A602_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13787				Missing (in Ref. 3; AAK74120).	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						TGGTACTTACCTGAAGGGCCA	0.438000														26			11		0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144449155	144449155	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144449155G>A	uc003ijg.3	+	6	1398	c.936G>A	c.(934-936)agG>agA	p.R312R		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	312	Helicase ATP-binding.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AAGCTCACAGGATCAAAAATG	0.264000														36			10		0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17663567	17663567	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17663567C>T	uc002zmk.1	-	6	1378	c.1166G>A	c.(1165-1167)aGc>aAc	p.S389N	CECR1_uc010gqu.1_Missense_Mutation_p.S389N|CECR1_uc011agi.1_Missense_Mutation_p.S347N|CECR1_uc002zmj.1_Missense_Mutation_p.S148N	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	389					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGGGTGTTTGCTCAAAGCAAA	0.498000														138			44		0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034993	1034993	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034993G>T	uc002ckn.3	+	2	1063	c.948G>T	c.(946-948)tgG>tgT	p.W316C		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	316					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CCCCCGTGTGGGCCCACAAGA	0.756000														36			14		9.31168e-06	9.81217e-06	1	1	0
CHML	1122	broad.mit.edu	37	1	241797861	241797861	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241797861C>T	uc001hzd.3	-	0	1372	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	403					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TACTTTATGACGAAGACAATA	0.373000														117			17		0	0	1	0	0
IL10RA	3587	broad.mit.edu	37	11	117869470	117869470	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117869470G>A	uc001prv.3	+	6	928	c.851G>A	c.(850-852)cGt>cAt	p.R284H	IL10RA_uc010rxl.2_Missense_Mutation_p.R264H|IL10RA_uc010rxm.2_Missense_Mutation_p.R264H|IL10RA_uc010rxn.2_Missense_Mutation_p.R135H|IL10RA_uc001prw.3_Missense_Mutation_p.R135H	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	284						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATCAGCCAGCGTCCCTCCCCA	0.582000														98			18		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683095	113683095	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683095G>T	uc001poh.3	-	15	1908	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_uc001pog.3_Silent_p.S333S|USP28_uc010rwy.2_Silent_p.S500S|USP28_uc001poi.3_5'UTR	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	625					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418000														109			19		1.56452e-12	1.80666e-12	1	1	0
KCNA1	3736	broad.mit.edu	37	12	5021067	5021067	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021067A>G	uc001qnh.3	+	1	1628	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	KCNA1_uc021qts.1_Missense_Mutation_p.M175V	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	175					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.M175I(1)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CGTCTCCGTCATGGTCATCCT	0.627000														222			29		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43342620	43342620	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43342620G>A	uc002iiw.1	-	15	2695	c.2586C>T	c.(2584-2586)gtC>gtT	p.V862V	LOC100133991_uc010dah.3_Intron|LOC100133991_uc002iit.4_Intron|LOC100133991_uc010dai.3_Intron|MAP3K14_uc002iiu.1_Silent_p.V393V|MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_Silent_p.V447V	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	863					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGTATTTGGACTTTCACAC	0.577000														150			22		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152577893	152577893	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152577893C>A	uc021zhb.1	-	99	19203	c.18980G>T	c.(18979-18981)aGc>aTc	p.S6327I	SYNE1_uc003qos.4_Missense_Mutation_p.S851I|SYNE1_uc003qot.4_Missense_Mutation_p.S6256I|SYNE1_uc003qou.4_Missense_Mutation_p.S6327I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6327					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTTGGCCTGCTATAAAGCTG	0.433000										HNSCC(10;0.0054)				139			10		0.000978159	0.0010017	1	1	0
EMX1	2016	broad.mit.edu	37	2	73145311	73145311	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73145311G>A	uc002sin.1	+	0	708	c.330G>A	c.(328-330)tcG>tcA	p.S110S		NM_004097	NP_004088	Q04741	EMX1_HUMAN	Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.	77						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						cgggccgcTCGCTCTACGGTG	0.771000														36			24		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32543588	32543588	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32543588C>A	uc003zrb.3	-	2	1127	c.935G>T	c.(934-936)gGa>gTa	p.G312V	TOPORS_uc003zrc.3_Missense_Mutation_p.G247V	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	312	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACTAAAGATCCATGAGCTCC	0.378000														88			16		1.3612e-06	1.45125e-06	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125555694	125555694	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125555694C>A	uc010flu.3	+	18	3378	c.3014C>A	c.(3013-3015)gCt>gAt	p.A1005D	CNTNAP5_uc002tno.3_Missense_Mutation_p.A1004D	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1004					cell adhesion|signal transduction	integral to membrane	receptor binding	p.G1005S(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTTTTGAGGCTGGCACGTCG	0.428000														27			6		3.59834e-05	3.75534e-05	1	1	0
ZNF644	84146	broad.mit.edu	37	1	91405757	91405757	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405757T>C	uc001dnw.3	-	2	1437	c.1154A>G	c.(1153-1155)aAt>aGt	p.N385S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.N385S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTAAGGTATTTGAAAGAAA	0.388000														113			31		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760790	133760790	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760790C>T	uc004bzw.3	+	10	3116	c.3113C>T	c.(3112-3114)gCg>gTg	p.A1038V	ABL1_uc004bzv.3_Missense_Mutation_p.A1057V	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1038	F-actin-binding.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGCACCGAGGCGCTGTGCCTC	0.622000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									188			39		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6836997	6836997	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6836997G>A	uc002mfu.1	+	21	2012	c.1915_splice	c.e21-1	p.G639_splice	VAV1_uc010xjh.1_Splice_Site_p.G607_splice|VAV1_uc010dva.1_Intron|VAV1_uc002mfv.1_Splice_Site_p.G584_splice	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	639	SH3 1.				T cell costimulation|apoptosis|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|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGTGTTTAGGGCAGAAATACA	0.473000														162			23		0	0	1	0	0
NUDT9	53343	broad.mit.edu	37	4	88359522	88359522	+	Silent	SNP	G	A	A	rs115855591	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88359522G>A	uc003hqq.3	+	2	771	c.441G>A	c.(439-441)ccG>ccA	p.P147P	NUDT9_uc010ikl.3_Intron|NUDT9_uc003hqr.3_Silent_p.P97P	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	147						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGGAAGACCGAGGTAGGTAC	0.373000														74			21		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16877137	16877137	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877137T>G	uc001ioo.3	-	63	10290	c.10238A>C	c.(10237-10239)gAt>gCt	p.D3413A		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3413	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTCGTAGTTATCTGGCCATCC	0.438000														134			27		0	0	1	0	0
SNORD7	692076	broad.mit.edu	37	17	33900720	33900720	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33900720C>A	uc002hjo.1	+	0		c.45C>A								Homo sapiens small nucleolar RNA, C/D box 7 (SNORD7), small nucleolar RNA.																		ATTGCCATTGCTTCACTGTTG	0.453000														87			21		1.96292e-10	2.20843e-10	1	1	0
SACS	26278	broad.mit.edu	37	13	23929960	23929960	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929960C>T	uc001uon.2	-	7	1380	c.791G>A	c.(790-792)gGc>gAc	p.G264D	SACS_uc001uoo.2_Missense_Mutation_p.G117D|SACS_uc001uop.1_Missense_Mutation_p.G51D|SACS_uc001uoq.1_Missense_Mutation_p.G117D	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	264					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding	p.G117D(1)|p.G264D(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGGAAAATTGCCGTTTATAAA	0.388000														96			26		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232733	31232733	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232733C>T	uc001utc.2	+	8	2951	c.2519C>T	c.(2518-2520)gCc>gTc	p.A840V	USPL1_uc001utd.2_Missense_Mutation_p.A511V|USPL1_uc001ute.1_Missense_Mutation_p.A511V	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	840					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGCACAGCTGCCCACCCACAT	0.507000														142			30		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19391072	19391072	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19391072C>A	uc002nmh.3	-	8	1288	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D	SUGP1_uc002nmf.3_5'UTR|SUGP1_uc002nmg.3_5'UTR|SUGP1_uc002nmi.3_Missense_Mutation_p.E214D|SUGP1_uc002nmj.3_Missense_Mutation_p.E214D|SUGP1_uc002nme.3_5'UTR	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	424					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTTCCCCTTCTCATAGCCGA	0.602000														179			15		0.000308642	0.000318063	1	1	0
LPL	4023	broad.mit.edu	37	8	19816893	19816893	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19816893T>C	uc003wzk.4	+	7	1509	c.1139_splice	c.e7+2	p.L380_splice		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	380	Heparin-binding (By similarity).|PLAT.				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	ATTCACTCTGTGAGTAGCACA	0.522000														65			19		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175556	57175556	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175556G>A	uc010ygn.2	-	1	1238	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGGCGCACTGGCCGCACGCGT	0.697000														63			16		0	0	1	0	0
ZFP36L2	678	broad.mit.edu	37	2	43451467	43451467	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43451467G>A	uc002rsv.4	-	1	1767	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S	LOC100129726_uc010ynx.1_5'Flank	NM_006887	NP_008818	P47974	TISD_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 2 (ZFP36L2), mRNA.	492					cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCAGTCGTCGGAGATGGAGA	0.667000														17			6		0	0	1	0	0
CDKL4	344387	broad.mit.edu	37	2	39406330	39406330	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39406330G>A	uc010fal.2	-	7	925	c.925C>T	c.(925-927)Cag>Tag	p.Q309*	CDKL4_uc002rrm.3_Nonsense_Mutation_p.Q309*	NM_001009565	NP_001009565	Q5MAI5	CDKL4_HUMAN	Homo sapiens cyclin-dependent kinase-like 4 (CDKL4), mRNA.	309						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GGAAGTACCTGTTGGCGTCTT	0.393000														165			15		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39977920	39977920	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39977920G>T	uc002hxv.2	+	8	1739	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C	FKBP10_uc002hxw.1_Missense_Mutation_p.G236C	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	472	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGGAGTCCCAGGCAGTGCTGT	0.657000														144			20		7.45023e-12	8.53574e-12	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79031203	79031203	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79031203G>A	uc003kgc.3	+	1	6687	c.6615G>A	c.(6613-6615)caG>caA	p.Q2205Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2205						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGAAACACAGCCAAGTCCAT	0.393000														151			31		0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798285	55798285	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55798285C>T	uc010riw.2	+	0	391	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CAACCCACTGCTCTATACTAC	0.458000														149			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062517	9062517	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9062517C>A	uc002mkp.3	-	2	25133	c.24929G>T	c.(24928-24930)aGg>aTg	p.R8310M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8312	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCCCATCCTGTCTGTGGT	0.478000														154			46		5.2432e-18	6.31706e-18	1	1	0
MYLK	4638	broad.mit.edu	37	3	123427586	123427586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123427586C>T	uc003ego.3	-	14	2381	c.2099G>A	c.(2098-2100)aGc>aAc	p.S700N	MYLK_uc011bjw.2_Missense_Mutation_p.S700N|MYLK_uc003egp.3_Missense_Mutation_p.S631N|MYLK_uc003egq.3_Missense_Mutation_p.S700N|MYLK_uc003egr.3_Missense_Mutation_p.S631N|MYLK_uc003egs.3_Missense_Mutation_p.S524N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	700	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCTCCAGCGCTGTTCCAGGC	0.602000														171			33		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133250198	133250198	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133250198G>A	uc001uks.1	-	12	1366	c.1322C>T	c.(1321-1323)cCg>cTg	p.P441L	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P414L	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	441					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCCTCCGGGTCTAGCTC	0.637000								DNA polymerases (catalytic subunits)						313			77		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102589658	102589658	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102589658G>A	uc010mbu.3	+	6	1244	c.914G>A	c.(913-915)aGt>aAt	p.S305N		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	305						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GTGGTCTTCAGTGAAGACAAA	0.488000														50			10		0	0	1	0	0
GJD4	219770	broad.mit.edu	37	10	35897020	35897020	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35897020G>T	uc001iyy.1	+	1	737	c.579G>T	c.(577-579)gaG>gaT	p.E193D		NM_153368	NP_699199	Q96KN9	CXD4_HUMAN	Homo sapiens gap junction protein, delta 4, 40.1kDa (GJD4), mRNA.	193					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCCCACAGAGAAGTCCCTGC	0.647000														62			7		0.000157383	0.000162836	1	1	0
TTN	7273	broad.mit.edu	37	2	179396193	179396193	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179396193C>A	uc021vsy.1	-	306	97670	c.97445G>T	c.(97444-97446)aGa>aTa	p.R32482I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R26177I|TTN_uc021vta.1_Missense_Mutation_p.R26110I|TTN_uc021vtb.1_Missense_Mutation_p.R25985I|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33409							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)			GAAAACAGATCTGGGGACCTC	0.473000														138			30		7.26314e-15	8.55724e-15	1	1	0
SDK1	221935	broad.mit.edu	37	7	4091441	4091441	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4091441C>A	uc003smx.3	+	18	3029	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	SDK1_uc010kso.3_Missense_Mutation_p.L240M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	964	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACACCTCAGCTGGTCTGGAC	0.522000														204			38		7.04047e-22	8.66048e-22	1	1	0
BAG1	573	broad.mit.edu	37	9	33264396	33264396	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33264396T>C	uc003zsj.3	-	0	364	c.277A>G	c.(277-279)Acc>Gcc	p.T93A	BAG1_uc003zsi.3_Intron|CHMP5_uc003zsm.4_5'Flank|CHMP5_uc011lnv.2_5'Flank	NM_001172415	NP_001165886	Q99933	BAG1_HUMAN	Homo sapiens BCL2-associated athanogene (BAG1), transcript variant 1, mRNA.	93					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			TCACTCAGGGTCAACTCCTCG	0.682000														115			29		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52080881	52080881	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52080881G>A	uc001ryw.3	+	4	670	c.492G>A	c.(490-492)acG>acA	p.T164T	SCN8A_uc010snl.2_Silent_p.T164T|SCN8A_uc001ryx.1_Silent_p.T29T|SCN8A_uc001ryz.1_Silent_p.T29T|SCN8A_uc001ryy.2_Silent_p.T29T	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	164					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAGGTACACGTTCACAGGGA	0.378000														65			10		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247835608	247835608	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247835608T>C	uc001idi.1	-	0	736	c.736A>G	c.(736-738)Acc>Gcc	p.T246A		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TAGTAAAGGGTCACCACTGTG	0.448000														102			57		0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87764186	87764186	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764186G>T	uc002fki.3	-	5	673	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	KLHDC4_uc010cht.2_Missense_Mutation_p.L10M|KLHDC4_uc002fkj.3_Intron|KLHDC4_uc002fkl.3_Missense_Mutation_p.L134M|KLHDC4_uc010chu.1_Missense_Mutation_p.L10M	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	191										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCACCAAACAGGATCAATTGT	0.438000														227			56		2.91325e-39	3.70214e-39	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107790514	107790514	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107790514G>A	uc022aka.1	-	29	3862	c.3756C>T	c.(3754-3756)gaC>gaT	p.D1252D	NRCAM_uc011kmk.2_Silent_p.D1159D|NRCAM_uc003vfd.3_Silent_p.D1140D|NRCAM_uc003vfe.3_Silent_p.D1128D|NRCAM_uc003vfc.3_Silent_p.D1131D|NRCAM_uc003vez.3_Non-coding_Transcript|NRCAM_uc003vfa.3_Silent_p.D96D|NRCAM_uc011kmj.2_Silent_p.D98D	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1252					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CTAGGCTGTCGTCACTATCTT	0.433000														225			49		0	0	1	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173186	146173186	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:146173186A>G	uc021xfa.1	-	5	820	c.380T>C	c.(379-381)aTt>aCt	p.I127T	PLSCR2_uc003evw.2_Missense_Mutation_p.I123T|PLSCR2_uc003evv.2_Missense_Mutation_p.I54T	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	54					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TGCAAAATAAATCCTCTGCCC	0.353000														115			27		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20981573	20981573	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20981573C>A	uc003zog.1	+	39	4889	c.4526C>A	c.(4525-4527)gCt>gAt	p.A1509D	FOCAD_uc003zoh.1_Missense_Mutation_p.A945D	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1509						integral to membrane	binding										TGCCCAAGTGCTTTACACGGT	0.498000														85			17		2.23348e-06	2.37297e-06	1	1	0
TMEM187	8269	broad.mit.edu	37	X	153248033	153248033	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153248033G>A	uc022cic.1	+	0	520	c.520G>A	c.(520-522)Gct>Act	p.A174T	TMEM187_uc004fjq.2_Missense_Mutation_p.A174T|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	174						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGGTGGCCGCTGTGGGGCA	0.637000														80			18		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280711	105280711	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105280711C>T	uc010npd.3	-	0	574	c.339G>A	c.(337-339)caG>caA	p.Q113Q	SERPINA7_uc004eme.2_Silent_p.Q113Q|SERPINA7_uc010npe.2_Silent_p.Q113Q	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	113					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGATCAGATGCTGGAAGCCAT	0.478000														133			47		0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40772352	40772352	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40772352A>C	uc004abs.2	-	4	3075	c.2923T>G	c.(2923-2925)Ttc>Gtc	p.F975V	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.F975V	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	975					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCTGGGAGAACGTTTTCCCA	0.423000														159			25		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216062136	216062136	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216062136T>A	uc001hku.1	-	40	8242	c.7855A>T	c.(7855-7857)Aca>Tca	p.T2619S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2619	Fibronectin type-III 12.				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)		CCTGGGAGTGTCCATACAGTC	0.502000										HNSCC(13;0.011)				87			35		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227966227	227966227	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227966227C>A	uc021vxr.1	-	15	1123	c.1022G>T	c.(1021-1023)gGc>gTc	p.G341V	COL4A4_uc021vxs.1_Missense_Mutation_p.G341V	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	341	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TACCTTTGGGCCAATTAATCC	0.328000														46			5		0.0215528	0.0217347	1	1	0
SPTB	6710	broad.mit.edu	37	14	65253315	65253315	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65253315G>A	uc001xht.3	-	14	3419	c.3368C>T	c.(3367-3369)tCt>tTt	p.S1123F	SPTB_uc001xhr.3_Missense_Mutation_p.S1123F|SPTB_uc001xhs.3_Missense_Mutation_p.S1123F|SPTB_uc001xhu.3_Missense_Mutation_p.S1123F	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1123					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TTTCTCCCCAGACTCCTTAAC	0.597000														107			32		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45255624	45255624	+	Silent	SNP	C	T	T	rs144257107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45255624C>T	uc003bfd.3	+	15	1798	c.1521C>T	c.(1519-1521)agC>agT	p.S507S	PRR5-ARHGAP8_uc011aqi.2_Silent_p.S419S|PRR5-ARHGAP8_uc011aqj.2_Silent_p.S350S|PRR5-ARHGAP8_uc010gzv.3_Intron|PRR5-ARHGAP8_uc003bfj.3_Silent_p.S328S|PRR5-ARHGAP8_uc003bfk.3_Silent_p.S297S|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TGGAGAGCAGCCTGCGTGTCA	0.667000														66			10		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303071	6303071	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303071C>T	uc003giy.3	+	7	1715	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	WFS1_uc003gix.3_Missense_Mutation_p.R517C|WFS1_uc003giz.3_Missense_Mutation_p.R335C	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	517					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TCTCTTCTTCCGCATGGCACA	0.577000														241			49		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64410340	64410340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64410340G>A	uc003pep.1	+	7	3108	c.3083G>A	c.(3082-3084)cGa>cAa	p.R1028Q	PHF3_uc010kah.1_Missense_Mutation_p.R842Q|PHF3_uc003pen.2_Missense_Mutation_p.R940Q|PHF3_uc011dxs.1_Missense_Mutation_p.R297Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1028	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GCTTGGAGACGAAGAGAAAAC	0.313000														71			8		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31525440	31525440	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31525440T>G	uc004dda.1	-	55	8592	c.8348A>C	c.(8347-8349)aAc>aCc	p.N2783T	DMD_uc004dcq.1_Missense_Mutation_p.N54T|DMD_uc004dcr.1_Missense_Mutation_p.N323T|DMD_uc004dcs.1_Missense_Mutation_p.N323T|DMD_uc004dct.1_Missense_Mutation_p.N323T|DMD_uc004dcu.1_Missense_Mutation_p.N323T|DMD_uc004dcv.1_Missense_Mutation_p.N323T|DMD_uc004dcw.2_Missense_Mutation_p.N1439T|DMD_uc004dcx.2_Missense_Mutation_p.N1442T|DMD_uc004dcz.2_Missense_Mutation_p.N2660T|DMD_uc004dcy.1_Missense_Mutation_p.N2779T|DMD_uc004ddb.1_Missense_Mutation_p.N2775T	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2783					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCACTTGAAGTTCATGTTATC	0.398000														60			20		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3912991	3912991	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3912991G>A	uc002fxe.3	-	52	8704	c.8640C>T	c.(8638-8640)taC>taT	p.Y2880Y	AB062083_uc021tnv.1_5'Flank|ZZEF1_uc021tnw.1_5'Flank|ZZEF1_uc002fxg.1_Silent_p.Y201Y	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2880							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAAACAGGCCGTACTCCATGT	0.612000														73			20		0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16899861	16899861	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16899861C>T	uc002neu.4	+	12	3222	c.2800C>T	c.(2800-2802)Ctg>Ttg	p.L934L	NWD1_uc002net.4_Silent_p.L799L|NWD1_uc002nev.4_Silent_p.L728L|NWD1_uc021uqg.1_Silent_p.L799L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	934							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGATTACACGCTGCACTTGTG	0.493000														111			35		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192207	152192207	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192207G>A	uc001ezt.1	-	2	1974	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	633					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)			GTGGCTGGAAGACTGACCTGA	0.577000														622			117		0	0	1	0	0
CEP89	84902	broad.mit.edu	37	19	33450866	33450866	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33450866C>A	uc002nty.3	-	2	334	c.245G>T	c.(244-246)aGc>aTc	p.S82I	CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.S82I|CEP89_uc002nub.1_5'UTR	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	82						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TTCAACACTGCTCACATCACT	0.587000														70			16		1.15088e-07	1.24477e-07	1	1	0
CEACAM18	729767	broad.mit.edu	37	19	51983672	51983672	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51983672C>T	uc002pwv.1	+	2	321	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	107						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATCGGACTGTCGTGGCCCTGG	0.552000														54			12		0	0	1	0	0
PTGS2	5743	broad.mit.edu	37	1	186645084	186645084	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186645084C>T	uc001gsb.3	-	7	1340	c.1203G>A	c.(1201-1203)ctG>ctA	p.L401L	PTGS2_uc009wyo.3_Silent_p.L248L	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	401					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	TTCCATGTTCCAGCAATATAG	0.388000														95			28		0	0	1	0	0
RGS8	85397	broad.mit.edu	37	1	182635136	182635136	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182635136G>A	uc010pnw.1	-	4	419	c.161C>T	c.(160-162)gCa>gTa	p.A54V	RGS8_uc001gpn.1_Missense_Mutation_p.A54V|RGS8_uc001gpm.1_Missense_Mutation_p.A72V	NM_001102450	NP_001095920	P57771	RGS8_HUMAN	Homo sapiens regulator of G-protein signaling 8 (RGS8), transcript variant 2, mRNA.	54					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	5						AAAGGAATCTGCCCACCTCGT	0.408000														184			34		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496015	113496015	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496015C>T	uc001tuk.1	+	0	354	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	6					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCCAGGCCACGGTGGGCTGA	0.687000														66			21		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98522833	98522833	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98522833G>A	uc003upp.3	+	21	3131	c.2922G>A	c.(2920-2922)atG>atA	p.M974I	TRRAP_uc011kis.2_Missense_Mutation_p.M974I|TRRAP_uc003upr.3_Missense_Mutation_p.M666I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	974					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.A973A(1)|p.A973S(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTGGCCATGATGAGCCTGG	0.557000														182			46		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100286495	100286495	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100286495G>A	uc003yiv.3	+	17	2696	c.2585G>A	c.(2584-2586)aGc>aAc	p.S862N	VPS13B_uc003yiw.3_Missense_Mutation_p.S862N|VPS13B_uc003yiu.1_Missense_Mutation_p.S862N|VPS13B_uc003yix.1_Missense_Mutation_p.S333N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	862					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)			AAGTACTGCAGCACATCATTG	0.433000														138			36		0	0	1	0	0
STAC2	342667	broad.mit.edu	37	17	37371375	37371375	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37371375C>T	uc002hrs.3	-	4	980	c.695G>A	c.(694-696)aGc>aAc	p.S232N	STAC2_uc010cvt.3_Missense_Mutation_p.S90N	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	Homo sapiens SH3 and cysteine rich domain 2 (STAC2), mRNA.	232					intracellular signal transduction		metal ion binding	p.S232N(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						CCATACCAGGCTCCTTGTCGG	0.617000														153			36		0	0	1	0	0
MAGED2	10916	broad.mit.edu	37	X	54837363	54837363	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54837363G>T	uc004dtk.1	+	3	741	c.647G>T	c.(646-648)aGg>aTg	p.R216M	MAGED2_uc004dtl.1_Missense_Mutation_p.R216M|MAGED2_uc004dtm.1_Intron|MAGED2_uc004dtn.1_Missense_Mutation_p.R216M|MAGED2_uc004dto.1_Missense_Mutation_p.R190M	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	216	Arg-rich.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						ATGGCCCGCAGGGCTTCAAGG	0.602000														38			7		0.00198382	0.00202356	1	1	0
ERBB2	2064	broad.mit.edu	37	17	37864607	37864607	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37864607G>A	uc002hso.3	+	2	497	c.259G>A	c.(259-261)Gct>Act	p.A87T	ERBB2_uc010cwa.3_Missense_Mutation_p.A72T|ERBB2_uc002hsm.3_Missense_Mutation_p.A57T|ERBB2_uc002hsp.3_5'UTR|ERBB2_uc010cwb.3_Missense_Mutation_p.A87T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.A57T|ERBB2_uc002hsn.1_Missense_Mutation_p.A87T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	87					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CGTGCTCATCGCTCACAACCA	0.612000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				153			41		0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	722509	722509	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:722509T>C	uc001lqt.3	+	12	1415	c.1168T>C	c.(1168-1170)Tcg>Ccg	p.S390P	EPS8L2_uc001lqu.3_Missense_Mutation_p.S390P|EPS8L2_uc010qwk.2_Missense_Mutation_p.S406P|EPS8L2_uc001lqv.3_Missense_Mutation_p.S345P|EPS8L2_uc001lqw.3_Missense_Mutation_p.S2P|EPS8L2_uc001lqx.3_Missense_Mutation_p.S2P|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	390						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TAAGGAGATGTCGCTGTGGGA	0.687000														100			15		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29673629	29673629	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673629T>C	uc021qwi.1	-	11	1869	c.1810A>G	c.(1810-1812)Ata>Gta	p.I604V	TMTC1_uc001riz.3_Missense_Mutation_p.I253V|TMTC1_uc001rja.3_Missense_Mutation_p.I340V|TMTC1_uc001rjb.3_Missense_Mutation_p.I496V|TMTC1_uc001riy.3_5'Flank	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	604						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTTTGGTATATTTCTTCAGCT	0.333000														63			13		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22849623	22849623	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849623A>C	uc002yld.2	+	14	2157	c.1908A>C	c.(1906-1908)gaA>gaC	p.E636D	NCAM2_uc011acb.2_Missense_Mutation_p.E494D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	636	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AAGATAAGGAAGACCAATGGC	0.348000														62			11		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113742	65113742	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113742C>T	uc001odm.3	+	8	1062	c.929C>T	c.(928-930)aCc>aTc	p.T310I	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	310					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CTCCAATTTACCCCCGTGATG	0.557000														78			28		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119961570	119961570	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119961570C>T	uc001txe.3	+	10	1641	c.1176C>T	c.(1174-1176)agC>agT	p.S392S	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	392										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTTTTACAGCGTAGCCCAGG	0.483000														83			23		0	0	1	0	0
HLA-F	3134	broad.mit.edu	37	6	29695860	29695860	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29695860C>A	uc011dlx.1	+	7	1409	c.1285C>A	c.(1285-1287)Cta>Ata	p.L429I	HLA-F_uc011dly.1_Intron|HLA-F-AS1_uc003nnp.2_Intron|HLA-F-AS1_uc011dlz.1_Intron	NM_018950	NP_061823	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 2, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ggaggaggtgctaccagcatc	0.468000														65			18		3.41278e-10	3.83229e-10	1	1	0
INTS10	55174	broad.mit.edu	37	8	19682423	19682423	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19682423C>T	uc022asn.1	+	7	1077	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	INTS10_uc003wzj.3_Silent_p.L316L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	316					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTCCACCATGCTGGTCTTCTT	0.373000														73			24		0	0	1	0	0
PRDM16	63976	broad.mit.edu	37	1	3301745	3301745	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3301745C>T	uc001akf.3	+	3	550	c.468C>T	c.(466-468)ttC>ttT	p.F156F	PRDM16_uc001ake.3_Silent_p.F156F|PRDM16_uc009vlh.3_5'UTR|PRDM16_uc001akc.3_Silent_p.F156F	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	156	SET.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTGAGAAGTTCTGCGTGGATG	0.597000			T	EVI1	"""MDS, AML"""									181			37		0	0	1	0	0
LHX6	26468	broad.mit.edu	37	9	124979498	124979498	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124979498G>A	uc004blx.4	-	4	603	c.531C>T	c.(529-531)cgC>cgT	p.R177R	LHX6_uc022bmw.1_5'UTR|LHX6_uc010mvw.3_Silent_p.R148R|LHX6_uc022bmx.1_Silent_p.R166R|LHX6_uc004bly.4_Silent_p.R177R	NM_014368	NP_055183	Q9UPM6	LHX6_HUMAN	Homo sapiens LIM homeobox 6 (LHX6), transcript variant 1, mRNA.	148	LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity).				cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)	8						AGGCGTTGCCGCGAGCTCTCC	0.667000														155			28		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11170476	11170476	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170476G>A	uc010dxp.3	+	33	5043	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R	SMARCA4_uc010dxo.3_Silent_p.R1593R|SMARCA4_uc002mqf.4_Silent_p.R1561R|SMARCA4_uc010dxq.3_Silent_p.R1528R|SMARCA4_uc010dxr.3_Silent_p.R1527R|SMARCA4_uc002mqj.4_Silent_p.R1531R|SMARCA4_uc010dxs.3_Silent_p.R1530R|SMARCA4_uc002mqh.4_Silent_p.R651R	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1561					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCAGCGTGCGGCAGAAAATCg	0.602000			"""F, N, Mis"""		NSCLC									34			10		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9627692	9627692	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9627692C>T	uc003wss.3	+	25	3822	c.3817C>T	c.(3817-3819)Cca>Tca	p.P1273S	TNKS_uc011kww.2_Missense_Mutation_p.P1036S	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1273	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CCACGCGCCTCCAGGGCACCA	0.453000														77			15		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48612815	48612815	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48612815C>T	uc003ctz.2	-	72	6138	c.6137G>A	c.(6136-6138)gGc>gAc	p.G2046D		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2046	Triple-helical region.		G -> V (in DDEB).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCAGCCCTGCCTGGGAGCCC	0.721000														86			23		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52288769	52288769	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52288769C>T	uc003pap.4	+	1	304	c.89C>T	c.(88-90)aCg>aTg	p.T30M	EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.2_Missense_Mutation_p.T11M	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	30						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGAAGTCAGACGCTGAGCTAC	0.423000														155			35		0	0	1	0	0
FARP2	9855	broad.mit.edu	37	2	242415374	242415374	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242415374G>A	uc002wbi.2	+	18	2398	c.2234G>A	c.(2233-2235)gGc>gAc	p.G745D		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	745					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)		GACCTGGTGGGCATAGAGAAC	0.498000														88			14		0	0	1	0	0
PSMB7	5695	broad.mit.edu	37	9	127177699	127177699	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127177699C>T	uc004boj.3	-	0	23	c.6G>A	c.(4-6)gcG>gcA	p.A2A	PSMB7_uc010mwm.3_Silent_p.A2A	NM_002799	NP_002790	Q99436	PSB7_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 7 (PSMB7), mRNA.	2					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)	5						CCGACACAGCCGCCATCTTCC	0.617000											OREG0019476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		47			15		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134084171	134084171	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134084171C>A	uc003iha.3	+	3	3663	c.2837C>A	c.(2836-2838)gCt>gAt	p.A946D		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	946					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAATGTAAAGCTCTGGGCCAC	0.483000														128			24		1.66031e-10	1.87009e-10	1	1	0
ZCWPW1	55063	broad.mit.edu	37	7	100006173	100006173	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100006173G>A	uc003uut.3	-	9	1226	c.978C>T	c.(976-978)taC>taT	p.Y326Y	ZCWPW1_uc011kjq.2_Silent_p.Y206Y|ZCWPW1_uc003uur.3_Silent_p.Y206Y|ZCWPW1_uc003uus.3_Silent_p.Y206Y|ZCWPW1_uc011kjr.2_Silent_p.Y326Y|ZCWPW1_uc003uuu.1_Silent_p.Y327Y|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	326	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGGTAACCGTATTGCTTGG	0.498000														159			39		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35446008	35446008	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35446008G>T	uc002hnm.3	-	55	6972	c.6781_splice	c.e55-1	p.A2261_splice	ACACA_uc002hnk.3_Splice_Site_p.A2183_splice|ACACA_uc002hnl.3_Splice_Site_p.A2203_splice|ACACA_uc002hnn.3_Splice_Site_p.A2261_splice|ACACA_uc002hno.3_Splice_Site_p.A2298_splice|ACACA_uc010cuy.3_Splice_Site_p.A906_splice|ACACA_uc010wdb.2_Splice_Site_p.A299_splice|ACACA_uc010wdc.2_Splice_Site_p.A387_splice	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2261					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCAAACATAAGCCTGCAAACA	0.493000														211			46		4.10826e-27	5.14408e-27	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661207	4661207	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4661207C>T	uc010qyk.2	+	0	263	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCATCATTCGTGTGGAGAG	0.542000														113			30		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132762	126132762	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132762G>T	uc004bnx.1	+	6	1522	c.1430G>T	c.(1429-1431)cGc>cTc	p.R477L	CRB2_uc004bnw.1_Missense_Mutation_p.R477L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	477	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TTGGCCACTCGCAATGACACC	0.617000														77			18		2.35188e-11	2.67805e-11	1	1	0
CCDC57	284001	broad.mit.edu	37	17	80159683	80159683	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159683C>T	uc002kdx.1	-	1	175	c.138G>A	c.(136-138)gcG>gcA	p.A46A	CCDC57_uc002kdz.1_Silent_p.A46A	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	46										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GTTTCCCCTGCGCCTCCTCCA	0.667000														173			49		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44559411	44559411	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44559411G>A	uc002lcr.1	-	0	2578	c.2225C>T	c.(2224-2226)gCa>gTa	p.A742V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron|TCEB3C_uc010xdb.2_5'Flank	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	742					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GTCTCGAATTGCCTTGGCCAT	0.567000														350			63		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35338932	35338932	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35338932G>A	uc001mwd.3	-	1	741	c.149C>T	c.(148-150)aCg>aTg	p.T50M	SLC1A2_uc021qfx.1_Missense_Mutation_p.T41M|SLC1A2_uc001mwe.3_Missense_Mutation_p.T41M|SLC1A2_uc010rev.1_Missense_Mutation_p.T50M|SLC1A2_uc021qfy.1_Missense_Mutation_p.T95M	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	50				T -> Q (in Ref. 2; AAA18900).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACCAAACACCGTCAGGGTGAG	0.622000														119			23		0	0	1	0	0
OPRD1	4985	broad.mit.edu	37	1	29189517	29189517	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29189517G>A	uc001brf.1	+	2	1083	c.841G>A	c.(841-843)Gtc>Atc	p.V281I		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	281					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACATCTTCGTCATCGTCTG	0.662000														41			14		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151879109	151879109	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151879109G>T	uc003wla.3	-	35	6055	c.5836C>A	c.(5836-5838)Cca>Aca	p.P1946T	MLL3_uc003wkz.3_Missense_Mutation_p.P1007T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1946	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACAGGGGATGGCCTATTTGCT	0.433000			N		medulloblastoma									188			48		5.20006e-24	6.45208e-24	1	1	0
DSP	1832	broad.mit.edu	37	6	7578046	7578046	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7578046G>T	uc003mxp.1	+	20	3191	c.2912G>T	c.(2911-2913)gGa>gTa	p.G971V	DSP_uc003mxq.1_Missense_Mutation_p.G971V|DSP_uc021yle.1_Missense_Mutation_p.G971V	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	971	Globular 1.				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)		TACACCTCAGGACTGGAAACT	0.418000														160			21		1.87028e-06	1.99088e-06	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7982118	7982118	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7982118G>A	uc001mfv.1	-	1	1058	c.1041C>T	c.(1039-1041)ctC>ctT	p.L347L		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	347	NACHT.						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)		ACGCTTTGTAGAGAATGTCAT	0.512000														175			8		0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87294981	87294981	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87294981G>T	uc003dqp.4	+	2	504	c.244G>T	c.(244-246)Gtt>Ttt	p.V82F	CHMP2B_uc011bgn.2_Missense_Mutation_p.V41F	NM_014043	NP_054762	Q9UQN3	CHM2B_HUMAN	Homo sapiens charged multivesicular body protein 2B (CHMP2B), transcript variant 1, mRNA.	82					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AAGTTCAAAAGTTACTTCTAT	0.368000														70			23		3.8784e-16	4.61393e-16	1	1	0
DNMT3L	29947	broad.mit.edu	37	21	45678505	45678505	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45678505G>T	uc002zeg.1	-	5	901	c.417C>A	c.(415-417)aaC>aaA	p.N139K	DNMT3L_uc002zeh.1_Missense_Mutation_p.N139K	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	139	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		AGCACACCCAGTTGCTCATGG	0.637000														54			5		0.000602214	0.000618135	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47584827	47584827	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47584827G>A	uc002pga.4	-	10	1421	c.1383C>T	c.(1381-1383)gaC>gaT	p.D461D	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	461							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		ACATGCAGTCGTCACCATTGA	0.542000														132			19		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32747543	32747543	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32747543C>T	uc001utx.3	+	18	2687	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTCGGAACGAGGTCCCCA	0.448000														172			39		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15262298	15262298	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15262298C>T	uc001rcs.3	-	3	486	c.346G>A	c.(346-348)Gtt>Att	p.V116I	RERG_uc001rct.3_Missense_Mutation_p.V116I|RERG_uc010shu.2_Missense_Mutation_p.V97I	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	116					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						TTGTTTCCAACCAAGATGAGA	0.473000														286			72		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149129742	149129742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149129742G>A	uc003wfv.3	-	5	1784	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CGCTCGCCGCGCCGGTTCCGC	0.657000														77			19		0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875714	51875714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51875714C>T	uc002pwj.3	-	0	247	c.76G>A	c.(76-78)Gat>Aat	p.D26N	NKG7_uc002pwk.3_Missense_Mutation_p.D26N	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	26						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AACCAGAAATCGGTGCTCAAA	0.612000														170			52		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720340	95720340	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720340G>T	uc009xuj.2	-	0	1333	c.814C>A	c.(814-816)Ctc>Atc	p.L272I						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GACATCAAGAGGCTATAATCC	0.463000														87			25		1.66031e-10	1.87009e-10	1	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174210743	174210743	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174210743A>G	uc001gjx.3	+	4	942	c.665A>G	c.(664-666)cAt>cGt	p.H222R	RABGAP1L_uc009wwq.2_Missense_Mutation_p.H222R|RABGAP1L_uc001gjw.3_Missense_Mutation_p.H185R	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	222	PID.				regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAGAGTTCCCATGGTTCGGAA	0.373000														81			29		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458638	129458638	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129458638C>T	uc011maa.2	+	7	1136	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	LMX1B_uc004bqi.3_Missense_Mutation_p.L366F|LMX1B_uc004bqj.3_Missense_Mutation_p.L373F	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	350					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGACTGCTTCCTCGGCTCCTC	0.627000									Nail-Patella Syndrome					366			90		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135139642	135139642	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135139642T>G	uc004cbk.3	-	25	8201	c.8018A>C	c.(8017-8019)aAa>aCa	p.K2673T	SETX_uc004cbj.3_Missense_Mutation_p.K2321T|SETX_uc010mzt.3_Missense_Mutation_p.K2259T	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2673	Necessary for nuclear localization.				RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AAGCTTTCTTTTCTTGGAACT	0.512000														333			80		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6661247	6661247	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6661247G>A	uc001mem.1	-	1	1999	c.1598C>T	c.(1597-1599)gCt>gTt	p.A533V		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	533	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T532T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGGCAGCCGTAGTGAT	0.587000														110			34		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264735	46264735	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264735T>G	uc002xtk.3	+	11	1866	c.1605T>G	c.(1603-1605)acT>acG	p.T535T	NCOA3_uc002xtl.3_Silent_p.T535T|NCOA3_uc002xtn.3_Silent_p.T535T|NCOA3_uc010ght.2_Silent_p.T545T|NCOA3_uc002xtm.3_Silent_p.T535T|NCOA3_uc010zyc.2_Silent_p.T330T	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	535	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTGTGGGGACTTCCCTTTTAT	0.478000														109			33		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170928948	170928948	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170928948G>T	uc003fhh.2	-	3	608	c.263C>A	c.(262-264)gCt>gAt	p.A88D	TNIK_uc003fhi.2_Missense_Mutation_p.A88D|TNIK_uc003fhj.2_Missense_Mutation_p.A88D|TNIK_uc003fhk.2_Missense_Mutation_p.A88D|TNIK_uc003fhl.2_Missense_Mutation_p.A88D|TNIK_uc003fhm.2_Missense_Mutation_p.A88D|TNIK_uc003fhn.2_Missense_Mutation_p.A88D|TNIK_uc003fho.2_Missense_Mutation_p.A88D	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	88	Protein kinase.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.A88S(1)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTTGATAAAAGCACCATAGTA	0.353000														52			10		1.58986e-06	1.69271e-06	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173997160	173997160	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173997160C>A	uc021xhm.1	+	5	1809	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	NLGN1_uc003fio.1_Missense_Mutation_p.L457M|NLGN1_uc010hww.1_Missense_Mutation_p.L497M|NLGN1_uc003fip.1_Missense_Mutation_p.L457M	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	474					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAAGACATTACTGGCTTTGTT	0.448000														124			28		1.12875e-08	1.24115e-08	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27010748	27010748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010748C>T	uc010crt.3	+	17	2335	c.2143C>T	c.(2143-2145)Cgg>Tgg	p.R715W	SUPT6H_uc002hby.3_Missense_Mutation_p.R715W	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	715					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.R715W(2)|p.R715L(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GGCCATCGAACGGGCTTTACA	0.498000														109			24		0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090319	115090319	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115090319G>A	uc001vuv.3	+	2	1334	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*	CHAMP1_uc010tko.2_Nonsense_Mutation_p.W334*|CHAMP1_uc010ahb.3_Nonsense_Mutation_p.W334*|CHAMP1_uc021rmx.1_Nonsense_Mutation_p.W334*	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	334	Mediates interaction with MAD2L2.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										CAGGACCTTGGAAGCCAGCTA	0.547000														120			28		0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753528	15753528	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:15753528A>C	uc002yjt.3	-	1	431	c.362T>G	c.(361-363)tTt>tGt	p.F121C	HSPA13_uc011abx.2_5'UTR	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	121						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						ACTTACCTTAAATGGGTATCT	0.328000														80			31		0	0	1	0	0
CATSPER3	347732	broad.mit.edu	37	5	134344598	134344598	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134344598C>T	uc003lag.3	+	4	829	c.743C>T	c.(742-744)aCc>aTc	p.T248I		NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	Homo sapiens cation channel, sperm associated 3 (CATSPER3), mRNA.	248					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGGCATTCACCATCATCTTC	0.537000														149			15		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585410	70585410	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70585410G>A	uc003xyl.3	-	9	2948	c.2241C>T	c.(2239-2241)ttC>ttT	p.F747F	SLCO5A1_uc010lzb.3_Silent_p.F692F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	747						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAAACCCAACGAATTTGAGGC	0.488000														151			32		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22053064	22053064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22053064G>A	uc003xbg.3	+	12	1995	c.1729G>A	c.(1729-1731)Ggg>Agg	p.G577R	BMP1_uc003xbf.3_Missense_Mutation_p.G326R|BMP1_uc003xbb.3_Missense_Mutation_p.G577R|BMP1_uc003xbc.3_Missense_Mutation_p.G326R|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.G326R|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	577	EGF-like 1; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGACCCCGGGTACGAGCT	0.662000														196			12		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16735579	16735579	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16735579C>A	uc010vwr.1	-	0	569	c.127G>T	c.(127-129)Gac>Tac	p.D43Y						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		GGACTGCAGTCTTTGATCTCA	0.582000														321			55		1.51943e-15	1.80078e-15	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179736940	179736940	+	Missense_Mutation	SNP	G	A	A	rs146458136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179736940G>A	uc002une.2	-	12	2117	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	CCDC141_uc002unf.1_Missense_Mutation_p.R146W	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	92							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATGCCAGCCGAAGGAGGCTA	0.468000														101			13		0	0	1	0	0
TSEN54	283989	broad.mit.edu	37	17	73517527	73517527	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73517527G>A	uc002jof.1	+	6	592	c.559G>A	c.(559-561)Gat>Aat	p.D187N	TSEN54_uc002joe.1_3'UTR	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	187					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTAACCTGGATGCCAGCGT	0.627000														124			22		0	0	1	0	0
NUMBL	9253	broad.mit.edu	37	19	41173926	41173926	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173926G>A	uc002oon.3	-	9	1445	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	NUMBL_uc010xvq.2_Missense_Mutation_p.A385V|NUMBL_uc010xvr.2_Missense_Mutation_p.A385V|NUMBL_uc002ooo.3_Missense_Mutation_p.A425V	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	426					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgGGCCTTGGCCAC	0.662000														19			4		0	0	1	0	0
LIN7A	8825	broad.mit.edu	37	12	81205351	81205351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81205351G>A	uc001szj.1	-	4	788	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	199					exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TTTTCAAAGCGAGCCTCCATT	0.498000														53			11		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134362215	134362215	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134362215A>G	uc010hty.3	-	2	267	c.205T>C	c.(205-207)Ttg>Ctg	p.L69L	KY_uc011blw.2_Silent_p.L69L|KY_uc011blx.2_Intron|KY_uc003eqs.1_Intron	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	69						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTCTCCACCAAGTTTTCTATT	0.547000														71			19		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48679431	48679431	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48679431C>T	uc003cuf.1	-	33	8971	c.8971G>A	c.(8971-8973)Gac>Aac	p.D2991N	CELSR3_uc010hkf.3_Missense_Mutation_p.D183N|CELSR3_uc010hkg.3_Missense_Mutation_p.D876N|CELSR3_uc003cul.3_Missense_Mutation_p.D2893N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2893					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTCAGAGTCGGAGTCTGCG	0.562000														56			9		0	0	1	0	0
RPL10	6134	broad.mit.edu	37	X	153627922	153627922	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153627922G>A	uc004fkm.2	+	3	365	c.177G>A	c.(175-177)caG>caA	p.Q59Q	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Silent_p.Q59Q|RPL10_uc004fkn.1_Silent_p.Q59Q|RPL10_uc004fkq.1_Non-coding_Transcript|RPL10_uc004fkr.1_5'Flank|SNORA70_uc010nux.1_5'Flank|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	59					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	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)					AATATGAGCAGCTGTCCTCTG	0.507000														149			48		0	0	1	0	0
LRRC37B	114659	broad.mit.edu	37	17	30376270	30376270	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30376270C>T	uc002hgu.3	+	9	2544	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	LRRC37B_uc010wbx.2_Nonsense_Mutation_p.R763*|LRRC37B_uc010csu.3_Nonsense_Mutation_p.R794*	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	845						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCATGTTGCGAACAGGCCT	0.438000														128			31		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18252741	18252741	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18252741C>A	uc002nhz.4	+	19	2168	c.2168C>A	c.(2167-2169)gCt>gAt	p.A723D		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	723							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCTACCTTCGCTGAAAGGAGC	0.617000														19			6		5.9392e-07	6.36579e-07	1	1	0
ANKRD9	122416	broad.mit.edu	37	14	102974022	102974022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102974022C>T	uc001ylz.1	-	3	802	c.205G>A	c.(205-207)Gcc>Acc	p.A69T	ANKRD9_uc001ylx.1_Missense_Mutation_p.A69T|ANKRD9_uc001yma.1_Missense_Mutation_p.A69T|ANKRD9_uc021sec.1_Missense_Mutation_p.A69T	NM_152326	NP_689539	Q96BM1	ANKR9_HUMAN	Homo sapiens ankyrin repeat domain 9 (ANKRD9), mRNA.	69										pancreas(1)|skin(1)	2						GGCGAGTAGGCGGCGGCGCGC	0.716000														27			8		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215815605	215815605	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815605C>A	uc002vew.3	-	44	7070	c.6850G>T	c.(6850-6852)Gag>Tag	p.E2284*	ABCA12_uc002vev.3_Nonsense_Mutation_p.E1966*|ABCA12_uc010zjn.2_Nonsense_Mutation_p.E1211*	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2284	ABC transporter 2.				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)		TTTCTTACCTCTCCAGCAGGT	0.373000														136			6		2.0095e-06	2.13635e-06	1	1	0
HERC2	8924	broad.mit.edu	37	15	28413705	28413705	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28413705C>T	uc001zbj.3	-	66	10367	c.10261G>A	c.(10261-10263)Gcc>Acc	p.A3421T		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3421					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCGATCATGGCGGCCGGCATC	0.632000														148			34		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1465269	1465269	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1465269G>A	uc002lsr.1	+	14	2177	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	APC2_uc002lss.1_Missense_Mutation_p.A239T|APC2_uc002lst.1_Missense_Mutation_p.A657T|APC2_uc002lsu.1_Missense_Mutation_p.A656T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	657					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGCAGCGCCCGTGACCA	0.652000														63			15		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37053334	37053334	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37053334T>C	uc003cgl.3	+	6	767	c.569T>C	c.(568-570)aTt>aCt	p.I190T	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.I190T|MLH1_uc011ayc.2_Missense_Mutation_p.I92T|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR|MLH1_uc010hgg.1_5'Flank|MLH1_uc010hgh.1_5'Flank|MLH1_uc010hgi.1_5'Flank|MLH1_uc010hgj.1_5'Flank|MLH1_uc010hgk.3_5'Flank|MLH1_uc010hgl.1_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	190					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AATGCAGGCATTAGTTTCTCA	0.343000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					170			55		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130412536	130412536	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130412536A>C	uc004ewe.4	-	11	2238	c.1955T>G	c.(1954-1956)cTt>cGt	p.L652R	IGSF1_uc004ewd.3_Missense_Mutation_p.L647R|IGSF1_uc022cdv.1_Missense_Mutation_p.L638R|IGSF1_uc004ewf.2_Missense_Mutation_p.L627R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	647	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CAGGGCGCCAAGGGGGAAGGC	0.632000														223			77		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99074166	99074166	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99074166G>A	uc001tfz.3	+	13	2609	c.2032G>A	c.(2032-2034)Gat>Aat	p.D678N	APAF1_uc001tfy.3_Missense_Mutation_p.D667N|APAF1_uc001tga.3_Missense_Mutation_p.D667N|APAF1_uc001tgb.3_Missense_Mutation_p.D678N|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Missense_Mutation_p.D87N	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	678					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTGCTCAGTGGATAAAAAAGT	0.363000														38			7		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163256740	163256740	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163256740G>T	uc002uch.2	-	9	2595	c.2366C>A	c.(2365-2367)tCc>tAc	p.S789Y		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	789					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATTTCAATGGAGCCTCTGGA	0.438000														146			34		3.62531e-18	4.37168e-18	1	1	0
ABCF1	23	broad.mit.edu	37	6	30546253	30546253	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30546253A>T	uc003nql.3	+	5	483	c.388A>T	c.(388-390)Aat>Tat	p.N130Y	ABCF1_uc003nqk.2_Missense_Mutation_p.N131Y|ABCF1_uc003nqm.3_Missense_Mutation_p.N130Y	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	130					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTAGGGTGGTAATGTTTTTGC	0.478000														66			19		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34395531	34395531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395531C>T	uc001zho.3	+	0	1258	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	267										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		GCAGTACCTCCCGACAAAACG	0.418000														73			17		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12708741	12708741	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12708741G>T	uc001ilo.3	+	2	466	c.231G>T	c.(229-231)aaG>aaT	p.K77N	CAMK1D_uc001iln.3_Missense_Mutation_p.K77N	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	77	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCAGGATTAAGCATGAAAATA	0.338000														110			29		5.45727e-16	6.48868e-16	1	1	0
EPB49	2039	broad.mit.edu	37	8	21926954	21926954	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21926954G>A	uc022asw.1	+	4	357	c.319G>A	c.(319-321)Gga>Aga	p.G107R	EPB49_uc022asq.1_Missense_Mutation_p.G107R|EPB49_uc011kys.1_Missense_Mutation_p.G67R|EPB49_uc022asr.1_Missense_Mutation_p.G107R|EPB49_uc022ass.1_Missense_Mutation_p.G82R|EPB49_uc022ast.1_Missense_Mutation_p.G107R|EPB49_uc022asu.1_Missense_Mutation_p.G107R|EPB49_uc022asv.1_Missense_Mutation_p.G107R|EPB49_uc022asx.1_Missense_Mutation_p.G107R|EPB49_uc022asy.1_Missense_Mutation_p.G82R	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	107					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		CCGGTCGCCTGGAATCATCTC	0.647000														72			16		0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64138899	64138899	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64138899G>A	uc001oae.3	+	16	2349	c.2266G>A	c.(2266-2268)Gtc>Atc	p.V756I	RPS6KA4_uc001oad.3_Missense_Mutation_p.V750I|RPS6KA4_uc010rnl.2_Missense_Mutation_p.V693I|RPS6KA4_uc001oaf.3_Missense_Mutation_p.V749I|RPS6KA4_uc009ypp.3_Missense_Mutation_p.V508I	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	756					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CCGAGCCCCCGTCGCCTCCAA	0.731000														69			24		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220162753	220162753	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162753G>A	uc002vkz.3	-	12	1982	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	PTPRN_uc010zlc.2_Silent_p.L491L|PTPRN_uc002vla.3_Silent_p.L552L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	581					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGGGCCACCAGAGTGAGCAGC	0.642000														138			37		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11738934	11738934	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11738934C>T	uc002rbk.1	+	14	2581	c.2281C>T	c.(2281-2283)Ccg>Tcg	p.P761S	GREB1_uc002rbo.1_Missense_Mutation_p.P395S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	761						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTTCCAGAACCCGCATACACT	0.433000														202			78		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178682	223178682	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223178682C>A	uc001hnu.2	+	9	4269	c.3943C>A	c.(3943-3945)Ctg>Atg	p.L1315M		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1315					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CGTGGCACCTCTGAAGGCCAC	0.592000														210			32		1.74807e-11	1.99175e-11	1	1	0
TECTB	6975	broad.mit.edu	37	10	114053768	114053768	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053768C>T	uc001kzr.1	+	5	620	c.620C>T	c.(619-621)aCc>aTc	p.T207I		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	207	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		TGTTGGGCCACCCCCTCGGCT	0.448000														71			15		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91749816	91749816	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91749816C>A	uc010aty.3	-	25	4641	c.4487G>T	c.(4486-4488)aGc>aTc	p.S1496I	CCDC88C_uc001xzj.3_Missense_Mutation_p.S20I|CCDC88C_uc001xzi.3_5'UTR	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1496					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCGGTCAAGGCTGCCTCTGTG	0.607000														59			6		0.0215528	0.0217347	1	1	0
SMC4	10051	broad.mit.edu	37	3	160149468	160149468	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160149468C>A	uc003fdh.3	+	20	3265	c.3152C>A	c.(3151-3153)cCt>cAt	p.P1051H	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.P1026H|SMC4_uc003fdj.3_Missense_Mutation_p.P1051H|SMC4_uc010hwd.3_Missense_Mutation_p.P993H|SMC4_uc003fdl.3_Missense_Mutation_p.P754H	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	1051					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGATAATCCTATTGAAGAG	0.343000														56			10		0.00621372	0.00630477	1	1	0
ADCK4	79934	broad.mit.edu	37	19	41198107	41198107	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41198107G>A	uc002oor.2	-	14	1770	c.1468C>T	c.(1468-1470)Cgc>Tgc	p.R490C	NUMBL_uc010xvq.2_5'Flank|NUMBL_uc010xvr.2_5'Flank|NUMBL_uc002oon.3_5'Flank|NUMBL_uc002ooo.3_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.R167C|ADCK4_uc002ooq.2_Missense_Mutation_p.R449C	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	490						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCCAGCTTGCGGTGCAGGGCA	0.682000														32			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783171	140783171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783171G>A	uc003lkh.2	+	0	652	c.652G>A	c.(652-654)Ggc>Agc	p.G218S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.G218S	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	218	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGATGGCGGCGAGCCGCG	0.582000														125			32		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42012394	42012394	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42012394G>T	uc003xop.3	+	2	480	c.189G>T	c.(187-189)aaG>aaT	p.K63N	AP3M2_uc003xoo.3_Missense_Mutation_p.K63N|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	63					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			ACCGCCACAAGATCTTTTTTG	0.488000														114			10		4.68919e-08	5.11014e-08	1	1	0
THAP7	80764	broad.mit.edu	37	22	21354375	21354375	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21354375G>A	uc002ztr.1	-	4	754	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W	THAP7_uc002zts.1_Missense_Mutation_p.R242W|THAP7-AS1_uc002ztt.1_5'Flank|THAP7-AS1_uc002ztv.3_5'Flank	NM_001008695	NP_085050	Q9BT49	THAP7_HUMAN	Homo sapiens THAP domain containing 7 (THAP7), transcript variant 2, mRNA.	242					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	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)			TCGGCTCGCCGCTTCCAGAGT	0.657000														71			15		0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138239457	138239457	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138239457G>A	uc003vuc.3	+	8	1491	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K	TRIM24_uc003vub.3_Missense_Mutation_p.E426K|TRIM24_uc022amn.1_Missense_Mutation_p.E384K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	426					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						TTTAGTAATCGAGGATAAAGA	0.363000														129			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106725432	106725432	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106725432G>T	uc021ser.1	-	927		c.22080C>A								Parts of antibodies, mostly variable regions.																		AGGCTGCACAGGAGAGTCTCA	0.582000														452			47		8.01111e-26	9.99355e-26	1	1	0
BRD4	23476	broad.mit.edu	37	19	15365050	15365050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15365050C>T	uc002nar.3	-	10	2293	c.2071G>A	c.(2071-2073)Ggc>Agc	p.G691S	BRD4_uc002nas.3_Missense_Mutation_p.G691S|BRD4_uc002nat.3_Missense_Mutation_p.G691S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	691					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			TTGGAGGAGCCGGCAATCACA	0.572000			T	C15orf55	lethal midline carcinoma of young people									66			21		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1119096	1119096	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1119096G>T	uc002lrk.4	-	13	1679	c.1441C>A	c.(1441-1443)Ctc>Atc	p.L481I	SBNO2_uc002lrj.4_Missense_Mutation_p.L424I|SBNO2_uc010dse.3_Missense_Mutation_p.L474I|SBNO2_uc010dsf.3_Missense_Mutation_p.L424I	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	481					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAAGCTGAGCTGGCGTGCG	0.672000														34			16		1.3612e-06	1.45125e-06	1	1	0
SSTR5	6755	broad.mit.edu	37	16	1129482	1129482	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129482C>T	uc021taf.1	+	1	685	c.614C>T	c.(613-615)aCg>aTg	p.T205M	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.T205M	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	205					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	ATCATCTACACGGCCGTGCTG	0.697000														79			6		0	0	1	0	0
LMOD3	56203	broad.mit.edu	37	3	69169146	69169146	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69169146T>G	uc003dns.2	-	1	569	c.360A>C	c.(358-360)aaA>aaC	p.K120N	LMOD3_uc003dnt.2_Missense_Mutation_p.K120N	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	120	Glu-rich.					cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TGAGCTTTTCTTTTAAATACT	0.328000														15			3		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158448052	158448052	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158448052C>T	uc011kwe.1	-	19	2629	c.2484G>A	c.(2482-2484)ctG>ctA	p.L828L	NCAPG2_uc010lqu.1_Silent_p.L620L|NCAPG2_uc003wnx.1_Silent_p.L828L|NCAPG2_uc003wnv.1_Silent_p.L828L|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Silent_p.L329L|NCAPG2_uc011kwd.1_Silent_p.L271L	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	828					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GATGGATGCTCAGGCGACAGT	0.522000														396			71		0	0	1	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895592	24895592	+	Missense_Mutation	SNP	G	A	A	rs146807462		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24895592G>A	uc001upj.3	+	3	749	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	230	C1q.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		CCTGTATAACGAATTCAACCA	0.428000														225			35		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883930	19883930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883930G>A	uc010vav.2	-	1	547	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	GPRC5B_uc021tef.1_Missense_Mutation_p.R72W|GPRC5B_uc002dgt.3_Missense_Mutation_p.R80W	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	80								p.R80W(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGGCAGCCGCACCAGGAGG	0.637000														136			32		0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022910	58022910	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58022910T>G	uc001spg.1	-	6	1164	c.732A>C	c.(730-732)ggA>ggC	p.G244G	B4GALNT1_uc010sru.2_Silent_p.G189G|B4GALNT1_uc010srv.2_Intron	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	244					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAGCCTCATGTCCCTCGGTGG	0.552000														53			16		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134073818	134073818	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134073818C>A	uc004cag.3	+	28	5048	c.4937C>A	c.(4936-4938)gCt>gAt	p.A1646D	NUP214_uc004cah.3_Missense_Mutation_p.A1636D|NUP214_uc004cai.3_Missense_Mutation_p.A1076D|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.A472D|NUP214_uc011mcf.1_Missense_Mutation_p.A423D|NUP214_uc010mzh.1_Missense_Mutation_p.A160D|NUP214_uc010mzi.1_Missense_Mutation_p.A160D	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1646	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCCGTCTTTGCTCAGCCTCCT	0.597000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									205			42		2.26627e-22	2.79311e-22	1	1	0
NEIL3	55247	broad.mit.edu	37	4	178262667	178262667	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178262667A>C	uc003iut.2	+	5	857	c.740A>C	c.(739-741)aAg>aCg	p.K247T	NEIL3_uc010irs.3_Intron	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	247					base-excision repair|nucleotide-excision repair	nucleus	DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|bubble DNA binding|damaged DNA binding|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AAACACTATAAGGTTTACAAG	0.408000								Base excision repair (BER), DNA glycosylases						56			17		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19259489	19259489	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19259489G>A	uc001mpm.3	-	2	728	c.206C>T	c.(205-207)gCt>gTt	p.A69V	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.A69V|E2F8_uc001mpo.1_Missense_Mutation_p.A69V	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	69					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGGCTCACAGCACTGATGAG	0.512000														291			40		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34137155	34137155	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137155C>A	uc001zhi.3	+	92	13459	c.13389C>A	c.(13387-13389)ttC>ttA	p.F4463L	RYR3_uc010bar.3_Missense_Mutation_p.F4458L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4463					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATGGTATTCTTTGTCCTTC	0.488000														96			26		6.32553e-13	7.33687e-13	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64975428	64975428	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64975428G>A	uc001jmn.3	-	5	1007	c.707C>T	c.(706-708)tCt>tTt	p.S236F	JMJD1C_uc001jml.3_Missense_Mutation_p.S17F|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_Missense_Mutation_p.S54F|JMJD1C_uc009xpi.3_Missense_Mutation_p.S54F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	236					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTGAACCATAGAAGGATCGAC	0.328000														39			12		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134074085	134074085	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134074085C>T	uc004cag.3	+	28	5315	c.5204C>T	c.(5203-5205)tCg>tTg	p.S1735L	NUP214_uc004cah.3_Missense_Mutation_p.S1725L|NUP214_uc004cai.3_Missense_Mutation_p.S1165L|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.S561L|NUP214_uc011mcf.1_Missense_Mutation_p.S512L|NUP214_uc010mzh.1_Missense_Mutation_p.S249L|NUP214_uc010mzi.1_Missense_Mutation_p.S249L	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1735	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTGGGCAGTCGGCGAGCAGT	0.592000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									162			35		0	0	1	0	0
ZNF323	64288	broad.mit.edu	37	6	28297300	28297300	+	Missense_Mutation	SNP	C	T	T	rs150660211		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28297300C>T	uc003nlc.3	-	1	550	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	ZNF323_uc003nld.3_Missense_Mutation_p.R54Q|ZNF323_uc010jra.3_Missense_Mutation_p.R54Q|ZNF323_uc003nla.3_Missense_Mutation_p.R54Q|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Missense_Mutation_p.R54Q|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	54	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R54R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						CAGAGCTTCTCGGGGACCAGG	0.522000														310			59		0	0	1	0	0
PCDH20	64881	broad.mit.edu	37	13	61986877	61986877	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:61986877G>A	uc001vid.4	-	1	1719	c.1355C>T	c.(1354-1356)gCg>gTg	p.A452V	PCDH20_uc010thj.2_Missense_Mutation_p.A452V	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	425	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGTGAAAAACGCAATGGGAGT	0.413000														122			26		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556458	48556458	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48556458C>T	uc003toq.2	+	51	13802	c.13778C>T	c.(13777-13779)gCc>gTc	p.A4593V	ABCA13_uc010kys.1_Missense_Mutation_p.A1668V|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.A323V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4593					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGGTTGCTAGCCATCATCTCC	0.448000														122			35		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52513390	52513390	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52513390G>A	uc010bff.3	-	29	3852	c.3690C>T	c.(3688-3690)atC>atT	p.I1230I	MYO5C_uc010uga.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	1230						myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CATTCAGGCGGATTTCAAGAT	0.348000														69			12		0	0	1	0	0
TTC39C	125488	broad.mit.edu	37	18	21705488	21705488	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21705488T>A	uc002kuw.3	+	9	1846	c.1394T>A	c.(1393-1395)tTc>tAc	p.F465Y	TTC39C_uc002kuu.3_Missense_Mutation_p.F404Y	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	465							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						AACTGTTCCTTCCCCAACCTG	0.463000														111			24		0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145542724	145542724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145542724C>T	uc003zbv.3	-	2	564	c.296G>A	c.(295-297)aGc>aAc	p.S99N		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	99					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCGGGCATTGCTCAAGATCTG	0.632000														8			3		0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133428227	133428227	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133428227T>C	uc001ulf.2	-	11	1589	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	CHFR_uc001ulc.1_Non-coding_Transcript|CHFR_uc001uld.2_Missense_Mutation_p.D461G|CHFR_uc001ule.2_Missense_Mutation_p.D490G|CHFR_uc010tbs.1_Missense_Mutation_p.D501G|CHFR_uc010tbt.1_Missense_Mutation_p.D410G	NM_001161344	NP_001154816	Q96EP1	CHFR_HUMAN	Homo sapiens checkpoint with forkhead and ring finger domains (CHFR), transcript variant 1, mRNA.	502					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GACACGCGGGTCCTGCTCGCG	0.657000														476			24		0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976890	46976890	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46976890A>G	uc001cpx.3	+	2	647	c.632A>G	c.(631-633)aAa>aGa	p.K211R	DMBX1_uc001cpw.3_Missense_Mutation_p.K206R	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	211					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GAGGACCCCAAAGCTGAGAAG	0.662000														49			14		0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61613124	61613124	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613124C>T	uc002jay.3	+	5	1276	c.1196C>T	c.(1195-1197)gCt>gTt	p.A399V	KCNH6_uc002jax.1_Missense_Mutation_p.A399V|KCNH6_uc010wpl.2_Missense_Mutation_p.A276V|KCNH6_uc010wpm.2_Missense_Mutation_p.A399V|KCNH6_uc002jaz.1_Missense_Mutation_p.A399V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	399					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TATGGGGCGGCTGTGCTCTTC	0.612000														179			41		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086312	53086312	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086312G>A	uc010ydn.2	+	4	1261	c.1198G>A	c.(1198-1200)Gtt>Att	p.V400I	ZNF701_uc002pzs.2_Missense_Mutation_p.V334I|ZNF701_uc021uyw.1_Missense_Mutation_p.V400I	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATGTGACAAAGTTTTCAGTCG	0.378000														146			26		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152706910	152706910	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152706910C>T	uc021zhb.1	-	52	8774	c.8551G>A	c.(8551-8553)Gag>Aag	p.E2851K	SYNE1_uc003qot.4_Missense_Mutation_p.E2858K|SYNE1_uc003qou.4_Missense_Mutation_p.E2851K|SYNE1_uc010kjb.1_Missense_Mutation_p.E2834K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2851					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.E2851D(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGTGAACTCGTGGACCGCA	0.393000										HNSCC(10;0.0054)				151			25		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183212466	183212466	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183212466G>A	uc001gqa.2	+	22	3827	c.3513G>A	c.(3511-3513)aaG>aaA	p.K1171K		NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	1171	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CTGATGTGAAGAACTTGGAGA	0.522000														167			46		0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38403694	38403694	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38403694G>A	uc001izk.3	+	5	857	c.27G>A	c.(25-27)tcG>tcA	p.S9S	ZNF37A_uc001izl.3_Silent_p.S9S|ZNF37A_uc001izm.3_Silent_p.S9S	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	9	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GATCAGTGTCGTTTAGGGATG	0.453000														154			46		0	0	1	0	0
OR5B3	441608	broad.mit.edu	37	11	58170524	58170524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58170524C>T	uc010rkf.2	-	0	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGCATAGCGGTCATAGGC	0.468000														197			37		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14406776	14406776	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14406776G>A	uc003jff.3	+	32	4960	c.4954G>A	c.(4954-4956)Gat>Aat	p.D1652N	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.D1301N	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1652					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGACAGCGATAAGGTGAG	0.572000														126			36		0	0	1	0	0
FAM78A	286336	broad.mit.edu	37	9	134151321	134151321	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151321C>A	uc004cak.3	-	0	586	c.246G>T	c.(244-246)aaG>aaT	p.K82N		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	82										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		AAGTCTCCTTCTTGGGGATGG	0.637000														95			23		2.27731e-05	2.38354e-05	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179192982	179192982	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179192982G>A	uc002uly.3	+	5	740	c.196_splice	c.e5-1	p.E66_splice	OSBPL6_uc002ulw.3_Splice_Site_p.E66_splice|OSBPL6_uc002ulx.3_Splice_Site_p.E66_splice|OSBPL6_uc010zfe.2_Splice_Site_p.E66_splice|OSBPL6_uc002ulz.3_Splice_Site_p.E66_splice|OSBPL6_uc002uma.3_Splice_Site_p.E45_splice	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	66					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTTTCTCTCAGGAAGCTGACA	0.393000														152			26		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581922	3581922	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3581922C>A	uc002kmf.3	-	7	2443	c.1916G>T	c.(1915-1917)aGg>aTg	p.R639M	DLGAP1_uc010wyz.2_Missense_Mutation_p.R639M|DLGAP1_uc010dkn.3_Missense_Mutation_p.R347M|DLGAP1_uc002kme.2_Missense_Mutation_p.R337M|DLGAP1_uc010wyw.2_Missense_Mutation_p.R345M|DLGAP1_uc010wyx.2_Missense_Mutation_p.R361M|DLGAP1_uc010wyy.2_Missense_Mutation_p.R323M|DLGAP1_uc002kmg.3_Missense_Mutation_p.R337M	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	639					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTCCTTCTTCCTGTCCTCCgt	0.493000														174			37		3.03874e-20	3.70712e-20	1	1	0
INPP5F	22876	broad.mit.edu	37	10	121551041	121551041	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121551041C>T	uc001leo.3	+	3	544	c.328C>T	c.(328-330)Cat>Tat	p.H110Y	INPP5F_uc001len.4_Missense_Mutation_p.H110Y	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	110							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTAAGAAGCATCATTTTGG	0.358000														73			18		0	0	1	0	0
BCL2L2-PABPN1	100529063	broad.mit.edu	37	14	23793419	23793419	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23793419G>A	uc001wjh.4	+	7	1112	c.883G>A	c.(883-885)Gcc>Acc	p.A295T	BCL2L2-PABPN1_uc001wjj.3_Missense_Mutation_p.A268T|BCL2L2-PABPN1_uc001wjk.3_Missense_Mutation_p.A268T	NM_001199864	NP_001186793			Homo sapiens BCL2L2-PABPN1 readthrough (BCL2L2-PABPN1), mRNA.																		CCGCTACCGCGCCCGGACCAC	0.567000														196			9		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111386404	111386404	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111386404G>A	uc003vfy.3	-	44	5040	c.4771C>T	c.(4771-4773)Ctg>Ttg	p.L1591L	DOCK4_uc011kml.2_Silent_p.L427L|DOCK4_uc011kmm.2_Silent_p.L453L|DOCK4_uc003vfw.3_Silent_p.L996L|DOCK4_uc003vfx.3_Silent_p.L1546L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1546	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCAAGCATCAGCTCTCTTAAT	0.448000														25			3		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062025	41062025	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41062025G>A	uc002ony.3	+	24	5206	c.5120G>A	c.(5119-5121)cGc>cAc	p.R1707H	SPTBN4_uc002onx.3_Missense_Mutation_p.R1707H|SPTBN4_uc002onz.3_Missense_Mutation_p.R1707H|SPTBN4_uc010egx.3_Missense_Mutation_p.R450H|SPTBN4_uc002ooa.3_Missense_Mutation_p.R383H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1707					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)			CAGGTGGACCGCCTGTACGTG	0.667000														78			16		0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122353966	122353966	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122353966T>G	uc003efm.2	+	10	1738	c.1672T>G	c.(1672-1674)Ttc>Gtc	p.F558V	PARP15_uc003efn.2_Missense_Mutation_p.F363V|PARP15_uc003efo.1_Missense_Mutation_p.F305V|PARP15_uc003efp.1_Missense_Mutation_p.F324V|PARP15_uc011bjt.1_Missense_Mutation_p.F255V	NM_001113523	NP_001106995	Q460N3	PAR15_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 15 (PARP15), transcript variant 1, mRNA.	536	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GAGACTCCTCTTCCATGGGAC	0.418000														69			15		0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688595	60688595	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:60688595G>A	uc002sae.1	-	3	1680	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	BCL11A_uc002sab.3_Silent_p.D484D|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Silent_p.D153D|BCL11A_uc010ypj.2_Silent_p.D450D|BCL11A_uc002sad.1_Silent_p.D332D|BCL11A_uc002saf.1_Silent_p.D450D	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	484	Glu-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			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)			cttcctcctcgtccccgttct	0.632000			T	IGH@	B-CLL									55			24		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26308959	26308959	+	Missense_Mutation	SNP	G	A	A	rs148012714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26308959G>A	uc001bld.4	-	6	742	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PAFAH2_uc001ble.4_Missense_Mutation_p.R188W	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	188					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)		TCGCTTACCCGCTGATGCACC	0.527000														39			18		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63883842	63883842	+	Missense_Mutation	SNP	C	A	A	rs142810860	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63883842C>A	uc021qks.1	+	0	103	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.L35M	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	7	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCGGGACTGGCTGTTCCTCTG	0.652000														65			12		6.40141e-05	6.6609e-05	1	1	0
BLNK	29760	broad.mit.edu	37	10	97967627	97967627	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97967627C>T	uc001kls.4	-	10	952	c.774_splice	c.e10+1	p.T258_splice	BLNK_uc001kme.4_Splice_Site_p.T153_splice|BLNK_uc001klt.4_Splice_Site_p.T149_splice|BLNK_uc009xvc.3_Splice_Site|BLNK_uc001klu.4_Splice_Site_p.T176_splice|BLNK_uc001klv.4_Splice_Site_p.T153_splice|BLNK_uc001klw.4_Splice_Site|BLNK_uc001klx.4_Splice_Site_p.T235_splice|BLNK_uc001kly.4_Splice_Site_p.T258_splice|BLNK_uc001klz.4_Splice_Site|BLNK_uc001kma.4_Splice_Site_p.T235_splice|BLNK_uc001kmb.4_Splice_Site_p.T54_splice|BLNK_uc001kmc.4_Splice_Site|BLNK_uc001kmd.4_Splice_Site_p.T176_splice|BLNK_uc009xvd.3_Splice_Site	NM_013314	NP_037446	Q8WV28	BLNK_HUMAN	Homo sapiens B-cell linker (BLNK), transcript variant 1, mRNA.	258	Pro-rich.				B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		AATTAACTTACTGTCTTCAGT	0.328000														67			16		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130269379	130269379	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269379C>T	uc004brh.3	-	13	2188	c.1986G>A	c.(1984-1986)cgG>cgA	p.R662R	FAM129B_uc004bri.3_Silent_p.R649R|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	662							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTCTCAGGCCGCAGACCTT	0.726000														31			5		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405479	2405479	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2405479C>T	uc010xgx.2	+	5	676	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	TMPRSS9_uc002lvv.1_Missense_Mutation_p.H260Y	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	226	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACAAGGAGCACTTCTGTGG	0.617000														164			26		0	0	1	0	0
ZDHHC17	23390	broad.mit.edu	37	12	77239492	77239492	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239492C>T	uc001syk.1	+	12	1496	c.1333C>T	c.(1333-1335)Cga>Tga	p.R445*		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	445					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTAACAGATACGAAAACCGGT	0.338000														137			10		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85610412	85610412	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85610412G>A	uc002blh.3	+	2	600	c.411G>A	c.(409-411)caG>caA	p.Q137Q	PDE8A_uc021stv.1_Silent_p.Q65Q|PDE8A_uc002bli.3_Silent_p.Q137Q|PDE8A_uc010bnc.3_5'UTR|PDE8A_uc010bnd.3_5'UTR|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	137					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATCCTCGACAGCTGGATGCAG	0.458000														89			22		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133674026	133674026	+	Missense_Mutation	SNP	G	A	A	rs141264634	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133674026G>A	uc003eqa.4	-	3	683	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	137					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCCTGCAAGCGGCTGTTGTTC	0.632000														68			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179654143	179654143	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179654143T>C	uc021vsy.1	-	12	2245	c.2020A>G	c.(2020-2022)Aga>Gga	p.R674G	TTN_uc021vsz.1_Missense_Mutation_p.R628G|TTN_uc021vta.1_Missense_Mutation_p.R628G|TTN_uc021vtb.1_Missense_Mutation_p.R628G|TTN_uc002unb.2_Missense_Mutation_p.R674G|TTN_uc010frg.1_Missense_Mutation_p.R256G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	674							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)			TCTCTAGTTCTCAGTATTGTT	0.368000														116			21		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578520	44578520	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44578520C>A	uc003tlb.3	-	1	1532	c.1476G>T	c.(1474-1476)caG>caT	p.Q492H	NPC1L1_uc011kbw.2_Missense_Mutation_p.Q492H|NPC1L1_uc003tlc.3_Missense_Mutation_p.Q492H|NPC1L1_uc003tld.3_Missense_Mutation_p.Q492H	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	492					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)	TCTGGAAATACTGCAGGAGGC	0.562000														139			44		1.63429e-32	2.06346e-32	1	1	0
FAM149A	25854	broad.mit.edu	37	4	187077278	187077278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187077278G>A	uc003iyt.4	+	6	1087	c.508G>A	c.(508-510)Gtc>Atc	p.V170I	FAM149A_uc011cla.1_Missense_Mutation_p.V170I|FAM149A_uc010isj.2_Missense_Mutation_p.V170I|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Missense_Mutation_p.V170I|FAM149A_uc011clb.2_Missense_Mutation_p.V170I	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	461								p.V170I(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GTTTGATCACGTCTGGACAAA	0.463000														166			25		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42136770	42136770	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42136770C>T	uc001zoo.4	+	16	1714	c.1674C>T	c.(1672-1674)tgC>tgT	p.C558C	JMJD7-PLA2G4B_uc010bcn.3_Silent_p.C558C|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.C28C|JMJD7-PLA2G4B_uc010bco.3_Silent_p.C327C|JMJD7-PLA2G4B_uc001zor.1_Silent_p.C28C	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	327	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTTGGATTGCGTCTCCTACA	0.637000														240			17		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138451342	138451342	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138451342C>T	uc003ihe.4	-	0	2288	c.1901G>A	c.(1900-1902)cGa>cAa	p.R634Q	PCDH18_uc003ihf.4_Missense_Mutation_p.R627Q|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.R414Q|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	634	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTCACATGATCGTGGATCAAT	0.438000														274			78		0	0	1	0	0
CD9	928	broad.mit.edu	37	12	6334663	6334663	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6334663G>A	uc010sev.2	+	1	322	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CD9_uc010seu.2_Silent_p.E46E|CD9_uc001qnq.2_Silent_p.E46E			P21926	CD9_HUMAN	Homo sapiens CD9 molecule (CD9), mRNA.	46					cell adhesion|cellular component movement|fusion of sperm to egg plasma membrane|paranodal junction assembly|platelet activation|platelet degranulation	integral to plasma membrane|platelet alpha granule membrane				endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	8						GCATCTTCGAGCAAGAAACTA	0.478000														96			24		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3917763	3917763	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3917763C>T	uc010xhz.2	+	10	1490	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	ATCAY_uc002lyy.4_Missense_Mutation_p.A330V|ATCAY_uc010dts.3_Missense_Mutation_p.A87V			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	330					transport		protein binding	p.A335V(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		AGACTGAAGGCCAGGAGGGAG	0.522000														105			14		0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924725	188924725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:188924725G>A	uc003izh.1	+	3	1172	c.764G>A	c.(763-765)cGc>cAc	p.R255H	ZFP42_uc003izi.1_Missense_Mutation_p.R255H|ZFP42_uc021xvm.1_Missense_Mutation_p.R255H	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	255					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGCGGAAAGCGCTTCTCTCTG	0.498000														74			30		0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2452547	2452547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2452547G>A	uc001ajm.1	-	2	424	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PANK4_uc010nza.1_Intron	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	139					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CACTTCAGCCGCAGCTTCTCT	0.597000														199			18		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78055849	78055849	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78055849A>G	uc010dht.3	+	11	2012	c.1981A>G	c.(1981-1983)Acc>Gcc	p.T661A	CCDC40_uc021uem.1_Missense_Mutation_p.T661A|CCDC40_uc002jxm.4_Missense_Mutation_p.T444A|CCDC40_uc002jxn.4_Missense_Mutation_p.T57A	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	661					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAGGAGAAGACCAACATGGT	0.622000														71			13		0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614372	247614372	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247614372G>T	uc010pyx.2	-	0	913	c.913C>A	c.(913-915)Ctg>Atg	p.L305M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L305L(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGTCTCCTCAGAGCCCCCTTC	0.458000														377			129		7.92475e-56	1.01204e-55	1	1	0
TPGS2	25941	broad.mit.edu	37	18	34385438	34385438	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34385438G>A	uc002kzw.1	-	3	709	c.281C>T	c.(280-282)gCa>gTa	p.A94V	TPGS2_uc010xci.1_Intron|TPGS2_uc002kzx.1_Intron|TPGS2_uc002kzy.3_Missense_Mutation_p.A94V	NM_015476	NP_056291	Q68CL5	TPGS2_HUMAN	Homo sapiens tubulin polyglutamylase complex subunit 2 (TPGS2), mRNA.	94						cytoplasm|microtubule											GCTGTTAATTGCCATGCTTCC	0.453000														176			33		0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100935	149100935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149100935C>T	uc004fdy.3	-	4	820	c.304G>A	c.(304-306)Gat>Aat	p.D102N	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	Homo sapiens chromosome X open reading frame 40B (CXorf40B), mRNA.	102										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					ACAACCTCATCGGGAGTTAAG	0.473000														89			10		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156504303	156504303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156504303G>A	uc001fpf.3	-	28	3805	c.3730C>T	c.(3730-3732)Ctc>Ttc	p.L1244F		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1244					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding	p.H1243R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTGAACTTGAGGTGTGTTTCC	0.562000														77			24		0	0	1	0	0
NUS1	116150	broad.mit.edu	37	6	118015211	118015211	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118015211G>A	uc003pxw.3	+	2	776	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_138459	NP_612468	Q96E22	NGBR_HUMAN	Homo sapiens nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) (NUS1), mRNA.	187					angiogenesis|cell differentiation	integral to membrane	receptor activity|transferase activity, transferring alkyl or aryl (other than methyl) groups			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|prostate(2)	8		all_cancers(87;0.0395)|all_epithelial(87;0.0301)		GBM - Glioblastoma multiforme(226;0.02)|OV - Ovarian serous cystadenocarcinoma(136;0.115)|all cancers(137;0.146)		TTGCCATTTGGCAGTGAAGGT	0.378000														92			22		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77288498	77288498	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77288498A>G	uc003hkb.4	-	10	1932	c.1779T>C	c.(1777-1779)gcT>gcC	p.A593A		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	593										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCTCCAGTTGAGCTTTTTCTA	0.413000														142			20		0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107145730	107145730	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:107145730G>T	uc001vqi.3	-	4	736	c.660C>A	c.(658-660)atC>atA	p.I220I		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	220					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CGGAACCGAGGATGTTGTTCC	0.532000														176			23		2.27731e-05	2.38354e-05	1	1	0
HFM1	164045	broad.mit.edu	37	1	91781522	91781522	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91781522C>A	uc001doa.4	-	27	3089	c.2990G>T	c.(2989-2991)aGa>aTa	p.R997I	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.R676I|HFM1_uc001dob.4_Missense_Mutation_p.R185I|HFM1_uc010osv.1_Missense_Mutation_p.R681I	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	997	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		ATCACTATATCTTGTAATCTT	0.303000														26			4		0.00909568	0.00920877	1	1	0
PKLR	5313	broad.mit.edu	37	1	155264395	155264395	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155264395G>A	uc001fkb.4	-	5	882	c.843C>T	c.(841-843)gaC>gaT	p.D281D	PKLR_uc001fka.4_Silent_p.D250D	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	281			D -> N (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAAAGACGATGTCCACCCCAT	0.637000														171			18		0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238688109	238688109	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238688109C>T	uc002vxc.3	+	23	1921	c.1857C>T	c.(1855-1857)aaC>aaT	p.N619N	LRRFIP1_uc010znm.2_Silent_p.N373N|LRRFIP1_uc002vxg.3_Non-coding_Transcript	NM_001137550	NP_001131022	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 1, mRNA.	306					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGGTGAGCAACGGCCACTTAG	0.483000														47			18		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913496	136913496	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913496C>T	uc004cew.3	-	5	983	c.795G>A	c.(793-795)ccG>ccA	p.P265P	BRD3_uc004cex.2_Silent_p.P265P	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	265						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTGACAACGGCGGGGGCGACT	0.637000			T	C15orf55	lethal midline carcinoma of young people									158			12		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869930	174869930	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869930A>G	uc003mcz.3	-	1	1118	c.173T>C	c.(172-174)gTg>gCg	p.V58A	DRD1_uc021yia.1_Missense_Mutation_p.V58A	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	58					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GAAGTTGGTCACCTTGGACCG	0.587000														91			37		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925373	6925373	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6925373C>A	uc001qqv.2	+	5	1017	c.759C>A	c.(757-759)acC>acA	p.T253T	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_3'UTR|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_Silent_p.T74T|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGGATCACCTTTGACCTGA	0.572000														236			56		4.46115e-38	5.66556e-38	1	1	0
SYMPK	8189	broad.mit.edu	37	19	46332306	46332306	+	Missense_Mutation	SNP	G	A	A	rs146919889	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46332306G>A	uc002pdn.3	-	13	2152	c.1907C>T	c.(1906-1908)tCg>tTg	p.S636L	SYMPK_uc002pdo.1_Missense_Mutation_p.S636L|SYMPK_uc002pdp.1_Missense_Mutation_p.S636L	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	636					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGGGAGCCCGAGGCACCTGC	0.642000														253			24		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970601	87970601	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970601A>C	uc003plm.4	+	7	7295	c.7254A>C	c.(7252-7254)tcA>tcC	p.S2418S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATTTACATCACAACACCGAA	0.343000														21			3		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80047259	80047259	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80047259G>A	uc002kdu.3	-	13	2083	c.1966_splice	c.e13-1	p.A656_splice	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	656	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AAACACCGGGGCCTGGACATC	0.637000														123			37		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576765	4576765	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576765T>C	uc003zij.2	+	10	1446	c.1193_splice	c.e10+2	p.S398_splice	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	398					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	CACCATCAGGTGGGGCATGGT	0.483000														134			25		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40998490	40998490	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40998490A>G	uc003opi.3	-	6	1223	c.1124T>C	c.(1123-1125)tTg>tCg	p.L375S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	375	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)					CTTGGTCTCCAAGCCCTGAGT	0.552000														73			14		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177000083	177000083	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177000083C>T	uc001glc.3	-	3	1083	c.871G>A	c.(871-873)Gac>Aac	p.D291N	ASTN1_uc001glb.1_Missense_Mutation_p.D291N|ASTN1_uc001gld.1_Missense_Mutation_p.D291N|ASTN1_uc009wwx.1_Missense_Mutation_p.D291N|ASTN1_uc001gle.4_Non-coding_Transcript|MIR488_uc021pfc.1_5'Flank	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	291					cell migration|neuron cell-cell adhesion	integral to membrane		p.D291E(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTGGCATTGTCACTTCCTGTA	0.418000														85			23		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20976326	20976326	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20976326G>T	uc010vbe.2	-	52	8880	c.8880C>A	c.(8878-8880)tgC>tgA	p.C2960*	DNAH3_uc010vbd.2_Nonsense_Mutation_p.C395*	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2960	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTTGGGAGCAGATTTCAA	0.517000														293			58		5.19286e-32	6.55233e-32	1	1	0
CSRNP1	64651	broad.mit.edu	37	3	39186588	39186588	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39186588C>T	uc003cjg.3	-	2	579	c.365G>A	c.(364-366)cGc>cAc	p.R122H	CSRNP1_uc003cjh.3_Missense_Mutation_p.R122H	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	122					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						CAAAGAGAAGCGACGGCAAGC	0.607000														136			22		0	0	1	0	0
FLOT2	2319	broad.mit.edu	37	17	27207787	27207787	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27207787G>A	uc002hdc.3	-	9	1315	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	398					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TCGGCCAGCAGTCGGTTCACT	0.577000														207			56		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235909723	235909723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235909723C>T	uc001hxj.2	-	28	8060	c.7885G>A	c.(7885-7887)Gag>Aag	p.E2629K	LYST_uc009xga.1_Missense_Mutation_p.E265K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2629					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTAGGGTTCTCTTGGCTCATT	0.438000														115			26		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768514	117768514	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117768514G>A	uc001twn.2	-	1	1072	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	NOS1_uc001twm.2_Missense_Mutation_p.R121W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	121	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R121Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGTGTCACCCGGATGGTCTTG	0.647000														151			34		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169623504	169623504	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169623504A>C	uc003qwt.3	-	18	3088	c.2840T>G	c.(2839-2841)gTg>gGg	p.V947G		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	947					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCAGGACACACATCATCAAT	0.428000														129			26		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42088725	42088725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42088725G>A	uc010zwg.2	+	3	604	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	SRSF6_uc002xki.3_Missense_Mutation_p.R16Q	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	145	RRM 2.		R -> Q (in a colorectal cancer sample; somatic mutation).		mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding	p.R145Q(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CACAAGGAACGAACAAATGAG	0.413000														89			13		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281939	152281939	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281939T>C	uc001ezu.1	-	2	5459	c.5423A>G	c.(5422-5424)gAg>gGg	p.E1808G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1808	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.Q1807K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACCCTCTTGGGACGC	0.597000									Ichthyosis					759			157		0	0	1	0	0
RUSC1	23623	broad.mit.edu	37	1	155300316	155300316	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155300316G>T	uc001fkj.2	+	9	2892	c.2663G>T	c.(2662-2664)gGc>gTc	p.G888V	RUSC1_uc001fkk.2_Missense_Mutation_p.G782V|RUSC1_uc009wqo.1_Missense_Mutation_p.G419V|RUSC1_uc001fkl.2_Missense_Mutation_p.G478V|RUSC1_uc001fkp.2_Missense_Mutation_p.G419V|RUSC1_uc010pgb.1_Missense_Mutation_p.G386V|RUSC1_uc009wqp.1_Missense_Mutation_p.G413V|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_Missense_Mutation_p.G197V|RUSC1_uc001fkr.2_Missense_Mutation_p.G419V	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	888	SH3.					cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			GGGCGGGATGGCATGGAGGGT	0.592000														86			8		0.0581538	0.0584306	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61613207	61613207	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61613207C>T	uc002jay.3	+	5	1359	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	KCNH6_uc002jax.1_Missense_Mutation_p.R427W|KCNH6_uc010wpl.2_Missense_Mutation_p.R304W|KCNH6_uc010wpm.2_Missense_Mutation_p.R427W|KCNH6_uc002jaz.1_Intron	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	427					regulation of transcription, DNA-dependent|signal transduction			p.R427W(2)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CAATGTGGAGCGGCCCTACCT	0.632000														216			16		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134478233	134478233	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134478233G>A	uc003yuk.2	-	5	1236	c.407C>T	c.(406-408)tCg>tTg	p.S136L	ST3GAL1_uc003yum.2_Missense_Mutation_p.S136L	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	136					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	p.S136S(2)		endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCAGCCCACCGACCTCTTCTC	0.572000														190			49		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52656853	52656853	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52656853G>A	uc002aby.2	-	23	3451	c.3207C>T	c.(3205-3207)ctC>ctT	p.L1069L	MYO5A_uc002abx.3_Silent_p.L1069L	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1069					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CATTAAGGTCGAGTTCCAGTT	0.388000														126			12		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111130421	111130421	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111130421G>T	uc001vqx.3	+	29	2786	c.2497G>T	c.(2497-2499)Ggc>Tgc	p.G833C		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	833	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)			CGGCCAGCCAGGCCTGTATGG	0.652000														76			13		4.3838e-07	4.70703e-07	1	1	0
TPRG1	285386	broad.mit.edu	37	3	189028272	189028272	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189028272A>G	uc003frv.2	+	9	1804	c.577A>G	c.(577-579)Act>Gct	p.T193A	TPRG1_uc003frw.2_Missense_Mutation_p.T193A	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	193										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		TCCTTATGCTACTTTCACTGA	0.473000														132			27		0	0	1	0	0
MIER3	166968	broad.mit.edu	37	5	56224611	56224611	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56224611G>A	uc003jrc.1	-	9	947	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	MIER3_uc003jqz.1_Missense_Mutation_p.L240F|MIER3_uc003jrd.1_Missense_Mutation_p.L303F|MIER3_uc003jra.1_Missense_Mutation_p.L302F|MIER3_uc003jrb.1_Missense_Mutation_p.L127F	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	303	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TTCTGTATAAGATGAAAATCT	0.303000														50			4		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965964	123965964	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965964C>T	uc022bag.1	+	0	2214	c.2214C>T	c.(2212-2214)tgC>tgT	p.C738C	ZHX2_uc003ypk.1_Silent_p.C738C	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	738						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAAAGCTCTGCGAAGAGGACT	0.532000														188			31		0	0	1	0	0
C16orf73	254528	broad.mit.edu	37	16	1903110	1903110	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1903110T>C	uc010uvq.1	-	8	903	c.708A>G	c.(706-708)atA>atG	p.I236M	C16orf73_uc002cne.2_Missense_Mutation_p.I236M|C16orf73_uc010uvr.2_Missense_Mutation_p.I29M	NM_001163560	NP_001157032	Q8N635	CP073_HUMAN	Homo sapiens chromosome 16 open reading frame 73 (C16orf73), transcript variant 1, mRNA.	236					meiosis	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTCAAAATTTATTCTTACAT	0.303000														30			7		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76060855	76060855	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76060855T>C	uc002jud.2	+	4	3048	c.2448T>C	c.(2446-2448)tcT>tcC	p.S816S	TNRC6C_uc002juf.2_Silent_p.S813S|TNRC6C_uc002jue.2_Silent_p.S813S	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	816	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTGAAAACTCTTGGGGAGAAC	0.517000														106			22		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976414	38976414	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38976414C>T	uc002oit.3	+	33	5249	c.5119C>T	c.(5119-5121)Cgc>Tgc	p.R1707C	RYR1_uc002oiu.3_Missense_Mutation_p.R1707C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1707	6 X approximate repeats.				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)	AGGCCCACTGCGCGCAGGCTA	0.652000														244			51		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54219400	54219400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54219400C>T	uc003pcj.2	+	8	1362	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	406					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			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)			AGAAAAATATCGAAAGCTTCA	0.318000														40			11		0	0	1	0	0
PPP1CA	5499	broad.mit.edu	37	11	67166104	67166104	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67166104C>T	uc001okw.1	-	6	1018	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PPP1CA_uc001oku.1_Missense_Mutation_p.A310T|PPP1CA_uc001okv.1_Missense_Mutation_p.A255T|PPP1CA_uc001okx.1_Missense_Mutation_p.A387T	NM_002708	NP_002699	P62136	PP1A_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, alpha isozyme (PPP1CA), transcript variant 1, mRNA.	299					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)			TTCTTGTCGGCGGGCTTGAGG	0.587000														84			17		0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126290881	126290881	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126290881G>A	uc003ejc.3	-	3	953	c.396C>T	c.(394-396)agC>agT	p.S132S		NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN	Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA.	132										endometrium(1)|large_intestine(2)|skin(2)	5						gagatcatccgctgatacctg	0.473000														169			39		0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24242173	24242173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24242173C>T	uc001uov.2	+	7	995	c.791C>T	c.(790-792)cCg>cTg	p.P264L	TNFRSF19_uc001uot.3_Missense_Mutation_p.P264L|TNFRSF19_uc010tcu.2_Missense_Mutation_p.P132L|TNFRSF19_uc001uow.3_Missense_Mutation_p.P264L	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	264					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		AGCCCCAACCCGGCGACTCTT	0.557000														27			6		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133779301	133779301	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133779301C>T	uc010tch.2	+	5	1235	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	ZNF268_uc010tbv.1_Silent_p.F182F|ZNF268_uc010tbz.1_Silent_p.F182F|ZNF268_uc010tcc.1_Silent_p.F182F|ZNF268_uc010tcd.1_Silent_p.F182F|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Silent_p.F343F|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Silent_p.F260F	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CATTCAGTTTCCATTCACAGC	0.393000														24			7		0	0	1	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657701	41657701	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41657701G>A	uc001zns.4	+	6	1026	c.762G>A	c.(760-762)cgG>cgA	p.R254R	NUSAP1_uc001znr.4_Silent_p.R253R|NUSAP1_uc001znt.4_Silent_p.R239R|NUSAP1_uc001znv.4_Silent_p.R252R|NUSAP1_uc010ucw.2_Silent_p.R230R|NUSAP1_uc010bce.3_Silent_p.R254R|NUSAP1_uc001znu.4_Silent_p.R253R|NUSAP1_uc001znw.4_Silent_p.R58R	NM_016359	NP_057443	Q9BXS6	NUSAP_HUMAN	Homo sapiens nucleolar and spindle associated protein 1 (NUSAP1), transcript variant 1, mRNA.	254	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CGCAAGGCCGGTCTTGTGGCC	0.547000														36			9		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23855256	23855256	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23855256G>T	uc001wjv.3	-	33	5115	c.5044C>A	c.(5044-5046)Ctg>Atg	p.L1682M		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1682					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGCAGCAGGTTGTTGCGC	0.642000														161			8		0.0381472	0.038366	1	1	0
FNDC8	54752	broad.mit.edu	37	17	33454299	33454299	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33454299A>G	uc002hix.3	+	1	530	c.448A>G	c.(448-450)Aca>Gca	p.T150A		NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN	Homo sapiens fibronectin type III domain containing 8 (FNDC8), mRNA.	150										breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CCAGATGGCCACAAGGGGCCT	0.582000														356			71		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641588	141641588	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141641588C>T	uc002tvj.1	-	24	4939	c.3967G>A	c.(3967-3969)Gtc>Atc	p.V1323I	LRP1B_uc010fnl.1_Missense_Mutation_p.V505I	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1323					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATGGCACTGACACCTACAAAA	0.453000										TSP Lung(27;0.18)				125			13		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5633732	5633732	+	Missense_Mutation	SNP	G	A	A	rs148248777		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5633732G>A	uc003gij.3	-	10	1552	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	EVC2_uc003gik.3_Missense_Mutation_p.R420W|EVC2_uc011bwb.2_5'UTR	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	500						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGGAGGGTCCGCAGAAGGTTG	0.512000														103			18		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471383	106471383	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106471383C>T	uc021ser.1	-	2492		c.43607G>A								Parts of antibodies, mostly variable regions.																		CCATTGCCAGCGTTGCTCCAT	0.547000														235			54		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30878969	30878969	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30878969A>G	uc001rji.1	-	8	2587	c.1836T>C	c.(1834-1836)gaT>gaC	p.D612D	CAPRIN2_uc001rjf.1_Silent_p.D409D|CAPRIN2_uc001rjg.1_Silent_p.D279D|CAPRIN2_uc001rjh.1_Silent_p.D612D|CAPRIN2_uc001rjk.4_Silent_p.D612D|CAPRIN2_uc001rjj.1_Silent_p.D279D|CAPRIN2_uc001rjl.4_Silent_p.D612D|CAPRIN2_uc001rjm.1_Silent_p.D279D	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	612					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATACTGGATCCTTCGGAA	0.383000														61			14		0	0	1	0	0
PRKCZ	5590	broad.mit.edu	37	1	1986985	1986985	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1986985G>T	uc001aiq.3	+	1	338	c.177G>T	c.(175-177)aaG>aaT	p.K59N		NM_002744	NP_001028754	Q05513	KPCZ_HUMAN	Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA.	59	OPR.				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)		TCACCCTCAAGTGGGTGGACA	0.617000														86			14		6.31663e-08	6.86475e-08	1	1	0
TDRD6	221400	broad.mit.edu	37	6	46657569	46657569	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46657569C>T	uc003oyj.3	+	0	1958	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F	TDRD6_uc010jze.3_Silent_p.F568F	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	568	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGGATGTATTCTTAGTTGACC	0.443000														198			44		0	0	1	0	0
BAIAP2L2	80115	broad.mit.edu	37	22	38505149	38505149	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38505149C>T	uc003auw.3	-	1	262	c.118G>A	c.(118-120)Gcc>Acc	p.A40T		NM_025045	NP_079321	Q6UXY1	BI2L2_HUMAN	Homo sapiens BAI1-associated protein 2-like 2 (BAIAP2L2), mRNA.	40	IMD.				filopodium assembly|signal transduction		SH3 domain binding|cytoskeletal adaptor activity			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCGTGGAAGGCACGCAGGTAG	0.637000														105			23		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40186851	40186851	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40186851G>A	uc002yxf.3	+	5	911	c.871G>A	c.(871-873)Gca>Aca	p.A291T	ETS2_uc002yxg.3_Missense_Mutation_p.A151T	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	151					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TCTGGAGCTGGCACCTGACTT	0.512000														284			22		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12946138	12946138	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12946138G>A	uc003wwm.2	-	15	4594	c.4150C>T	c.(4150-4152)Cgc>Tgc	p.R1384C	DLC1_uc003wwk.1_Missense_Mutation_p.R947C|DLC1_uc003wwl.1_Missense_Mutation_p.R981C|DLC1_uc011kxx.1_Missense_Mutation_p.R873C	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1384	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R1384R(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTAAGTAGGCGCTTTAAGATT	0.453000														161			22		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149473530	149473530	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473530G>A	uc010lpk.3	+	1	146	c.146G>A	c.(145-147)aGc>aAc	p.S49N	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	49	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCATTACAGCCGCCTGGGC	0.662000														26			7		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75526270	75526270	+	Silent	SNP	C	T	T	rs149206620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75526270C>T	uc001juw.3	+	12	1950	c.1770C>T	c.(1768-1770)aaC>aaT	p.N590N	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Silent_p.N448N|SEC24C_uc001jux.3_Silent_p.N590N|SEC24C_uc010qko.2_Silent_p.N471N|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	590					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TCCTGGTCAACGTCAATGAGT	0.502000														64			18		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159084345	159084345	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159084345C>T	uc003qrp.3	+	4	444	c.45C>T	c.(43-45)cgC>cgT	p.R15R	SYTL3_uc003qrr.3_Silent_p.R15R|SYTL3_uc003qro.3_Silent_p.R15R|SYTL3_uc003qrs.3_Silent_p.R15R|SYTL3_uc011efq.2_5'UTR	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	15	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	p.R15R(2)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		AGTTAGAACGCGAGGCCATTC	0.552000														103			7		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69971090	69971090	+	Silent	SNP	C	T	T	rs144693307	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69971090C>T	uc002exu.1	+	20	2276	c.2187C>T	c.(2185-2187)aaC>aaT	p.N729N	WWP2_uc002exv.1_Silent_p.N729N|WWP2_uc010vlm.1_Silent_p.N613N|WWP2_uc010vln.1_Silent_p.N347N|WWP2_uc002exw.1_Silent_p.N290N	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	729	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATGGCTTCAACGAGGTGGCCC	0.612000														118			27		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40521033	40521033	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40521033G>A	uc002oms.2	+	6	2112	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	ZNF546_uc002omt.2_Missense_Mutation_p.R593Q	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R619Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAGCCTTTCGATTTCAAACA	0.363000														54			13		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111581	64111581	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111581G>T	uc001nzy.3	+	13	1617	c.1568G>T	c.(1567-1569)aGg>aTg	p.R523M	CCDC88B_uc009ypo.2_Missense_Mutation_p.R520M|CCDC88B_uc001nzz.1_Missense_Mutation_p.R172M	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	523					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGAAGGCAAGGGATGGAGGC	0.627000														222			27		2.48779e-11	2.83162e-11	1	1	0
LILRA1	11024	broad.mit.edu	37	19	55086036	55086036	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086036G>A	uc010ern.3	+	3	808	c.339G>A	c.(337-339)gaG>gaA	p.E113E	LILRA1_uc002qgg.4_Silent_p.E113E|LILRA1_uc002qgf.3_Silent_p.E113E|LILRA1_uc010yfe.1_Silent_p.E113E|LILRA1_uc010yff.1_Silent_p.E101E|LILRA1_uc010ero.3_Silent_p.E101E|LILRA1_uc010yfg.1_Silent_p.E113E			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	115	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.P113S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCCCCTGGAGCTGGTGGTGA	0.607000														110			29		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578941	57578941	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57578941G>A	uc001snd.3	+	39	6882	c.6416G>A	c.(6415-6417)gGc>gAc	p.G2139D		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2139					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGGCATCGGCGTCCAGCTT	0.617000														188			42		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47197201	47197201	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47197201C>T	uc002pfh.3	-	10	1849	c.1507G>A	c.(1507-1509)Gcc>Acc	p.A503T	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Missense_Mutation_p.A346T|PRKD2_uc002pfi.3_Missense_Mutation_p.A503T|PRKD2_uc002pfj.3_Missense_Mutation_p.A503T|PRKD2_uc010xye.2_Missense_Mutation_p.A503T|PRKD2_uc002pfk.3_Missense_Mutation_p.A346T	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	503	PH.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCGGATGGCTGTCTCCCAG	0.697000														165			43		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661672	99661672	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661672C>T	uc010nmz.3	-	0	3600	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PCDH19_uc004efw.4_Missense_Mutation_p.V642M|PCDH19_uc004efx.4_Missense_Mutation_p.V642M	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	642	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I641I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGAGCCACCACGATAAGCTCA	0.567000														61			22		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112154849	112154849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154849C>T	uc003kpz.4	+	10	1313	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	APC_uc011cvt.2_Missense_Mutation_p.R356W|APC_uc003kpy.4_Missense_Mutation_p.R374W|APC_uc010jbz.3_Missense_Mutation_p.R91W|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	374	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGGAAATTCCCGGGGCAGTAA	0.517000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				98			6		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150934003	150934003	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150934003C>T	uc003lue.4	-	3	3878	c.3865G>A	c.(3865-3867)Gag>Aag	p.E1289K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1289	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGGCCTCCTCATCGCTG	0.547000														162			46		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149512485	149512485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149512485G>A	uc003lro.3	-	6	1424	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	PDGFRB_uc010jhd.3_Silent_p.L158L|PDGFRB_uc011dcg.1_Silent_p.S317S	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	319					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCTCTCCCAGGAGCCGCACG	0.647000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									17			4		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884845	12884845	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884845G>A	uc001auk.2	-	3	1462	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	422										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATGACCTGTCGCCATGGTCAG	0.473000														241			80		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508510	71508510	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71508510G>A	uc011caw.1	+	8	1648	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	456					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AATCCAACCAGCCCCTGGAGA	0.388000														62			20		0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86278795	86278795	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86278795G>T	uc004amv.3	-	9	2186	c.1612C>A	c.(1612-1614)Cct>Act	p.P538T	UBQLN1_uc004amw.3_Missense_Mutation_p.P510T	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	538				NP -> YS (in Ref. 4; BAB20436).	apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GATACCTGAGGATTTACTCCA	0.413000														103			22		1.64113e-05	1.72175e-05	1	1	0
GZF1	64412	broad.mit.edu	37	20	23350348	23350348	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350348C>T	uc010gdb.3	+	5	1929	c.1755C>T	c.(1753-1755)acC>acT	p.T585T	GZF1_uc002wsy.3_Silent_p.T585T|GZF1_uc010zsq.2_Silent_p.T109T|GZF1_uc010zsr.2_Silent_p.T94T|GZF1_uc002wsz.3_Silent_p.T585T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	585					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GGACATTCACCGACAAGTCCA	0.572000														185			37		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96076504	96076504	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96076504C>T	uc001kjk.3	+	28	6967	c.6333C>T	c.(6331-6333)acC>acT	p.T2111T	PLCE1_uc010qnx.2_Silent_p.T2095T|PLCE1_uc001kjm.3_Silent_p.T1803T|PLCE1_uc001kjp.3_Silent_p.T469T	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2111	Ras-associating 1.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCTTAAAAACCCAGCAGGAAG	0.443000														55			14		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41513320	41513320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41513320C>T	uc003azl.4	+	1	619	c.224C>T	c.(223-225)gCt>gTt	p.A75V		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	75	Interaction with ALX1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGATGCAGCTTCTAAACAT	0.458000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					95			37		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104679834	104679834	+	Missense_Mutation	SNP	G	A	A	rs146507239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104679834G>A	uc001kwm.3	+	0	1760	c.1597G>A	c.(1597-1599)Gct>Act	p.A533T	CNNM2_uc001kwn.3_Missense_Mutation_p.A533T|CNNM2_uc001kwl.3_Missense_Mutation_p.A533T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	533	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAAGTTGGACGCTATGCTGGA	0.463000														189			25		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397488	57397488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397488C>T	uc001sml.2	-	1	1367	c.1214G>A	c.(1213-1215)tGt>tAt	p.C405Y	ZBTB39_uc021qzg.1_Missense_Mutation_p.C405Y	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTTAGTTTCACACATGTCGCA	0.522000														125			29		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56923986	56923986	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56923986A>G	uc002adu.3	-	21	2867	c.2650T>C	c.(2650-2652)Ttg>Ctg	p.L884L	BC037892_uc002ads.3_5'Flank|ZNF280D_uc002adv.3_Silent_p.L871L|ZNF280D_uc010bfq.3_Silent_p.L884L|ZNF280D_uc002adt.3_Silent_p.L125L|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GCTAATCGCAAATCCTTAATA	0.348000														98			17		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16946075	16946075	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16946075G>T	uc001ioo.3	-	50	8004	c.7952C>A	c.(7951-7953)cCt>cAt	p.P2651H	CUBN_uc009xjq.1_Non-coding_Transcript|CUBN_uc009xjr.1_Missense_Mutation_p.P7H	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2651	CUB 19.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCTTTGAAGGACCACAAAG	0.403000														86			17		1.33834e-09	1.48855e-09	1	1	0
VPS26B	112936	broad.mit.edu	37	11	134113076	134113076	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134113076G>A	uc001qhe.3	+	3	1065	c.609G>A	c.(607-609)aaG>aaA	p.K203K		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	203					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCAAAATCAAGCACATGGAGA	0.453000														123			23		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481117	95481117	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95481117C>A	uc010fhq.2	-	1	1263	c.871G>T	c.(871-873)Gag>Tag	p.E291*	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	711										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TGATACATCTCTTTCATTTCC	0.388000														161			25		1.16021e-09	1.29201e-09	1	1	0
TXNDC16	57544	broad.mit.edu	37	14	52978026	52978026	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52978026G>T	uc001wzs.3	-	8	1137	c.688C>A	c.(688-690)Cta>Ata	p.L230I	TXNDC16_uc010tqu.2_Missense_Mutation_p.L225I|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	230					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TGTTCCATTAGTGTTCTTCTA	0.333000														92			19		1.56452e-12	1.80666e-12	1	1	0
IRF1	3659	broad.mit.edu	37	5	131821409	131821409	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131821409C>T	uc003kxa.2	-	8	902	c.668_splice	c.e8-1	p.A223_splice	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Splice_Site_p.A223_splice|IRF1_uc010jdt.2_Intron	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	223					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TCTGTTGTAGCTGTGGATGGG	0.537000														127			18		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158549279	158549279	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158549279G>A	uc003qrc.2	-	9	1018	c.876C>T	c.(874-876)atC>atT	p.I292I	SERAC1_uc003qrb.2_Silent_p.I20I	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	292					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CATTTGCTTCGATTTTATCAC	0.433000														151			43		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145878172	145878172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145878172C>T	uc003lob.3	+	15	2345	c.2305C>T	c.(2305-2307)Cga>Tga	p.R769*	TCERG1_uc003loc.3_Nonsense_Mutation_p.R748*	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	769	FF 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	p.D768D(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGAAAGACCGAGAAGCCTT	0.393000														53			10		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75500244	75500244	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75500244A>G	uc002azp.4	+	1	2175	c.1855A>G	c.(1855-1857)Aaa>Gaa	p.K619E	C15orf39_uc002azq.4_Missense_Mutation_p.K619E|C15orf39_uc021sqm.1_Missense_Mutation_p.K378E|C15orf39_uc002azr.4_Missense_Mutation_p.K17E	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	619										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCCAGGCCTGAAAAAGATAGA	0.567000														81			33		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32834629	32834629	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32834629G>T	uc004dda.1	-	5	730	c.486C>A	c.(484-486)agC>agA	p.S162R	DMD_uc004dcz.2_Missense_Mutation_p.S39R|DMD_uc004dcy.1_Missense_Mutation_p.S158R|DMD_uc004ddb.1_Missense_Mutation_p.S154R|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.S154R|DMD_uc010ngp.1_Missense_Mutation_p.S39R|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	162	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATCAGACCAGCTGGTGGTGA	0.408000														83			32		1.56442e-22	1.92865e-22	1	1	0
CYP3A7	1551	broad.mit.edu	37	7	99306847	99306847	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99306847T>C	uc003uru.3	-	10	1167	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	355					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CATGTCAAGATACTCCAACTG	0.368000														107			13		0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41738457G>A	uc002idz.3	-	0	475	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_uc002iea.3_Missense_Mutation_p.S149F|MEOX1_uc002ieb.3_Missense_Mutation_p.S34F	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	149						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577000														406			75		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158626413	158626413	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158626413C>T	uc001fst.1	-	19	3038	c.2839G>A	c.(2839-2841)Gat>Aat	p.D947N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	947					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)					GAATTGAGATCTAATAGAAAG	0.403000														179			45		0	0	1	0	0
PMM2	5373	broad.mit.edu	37	16	8900240	8900240	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8900240C>T	uc002czf.4	+	3	393	c.323C>T	c.(322-324)gCg>gTg	p.A108V	PMM2_uc010uyf.2_Non-coding_Transcript|PMM2_uc010uyg.2_Missense_Mutation_p.A25V|PMM2_uc010uyh.2_Intron|PMM2_uc010buj.3_Non-coding_Transcript|PMM2_uc010uyi.2_Intron|PMM2_uc010uye.1_Missense_Mutation_p.A108V	NM_000303	NP_000294	O15305	PMM2_HUMAN	Homo sapiens phosphomannomutase 2 (PMM2), mRNA.	108			A -> V (in CDG1A).		GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						AGCTACATTGCGAAAATTAAA	0.408000														60			19		0	0	1	0	0
SEC1	653677	broad.mit.edu	37	19	49183750	49183750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49183750G>A	uc010xzv.2	+	4	897	c.770G>A	c.(769-771)cGc>cAc	p.R257H	SEC1_uc002pka.3_Missense_Mutation_p.R217H|SEC1_uc010xzw.2_Missense_Mutation_p.R174H|SEC1_uc010ema.3_Missense_Mutation_p.R163H					Homo sapiens secretory blood group 1 (SEC1), non-coding RNA.																		CACCACCTCCGCCAGGAGATC	0.677000														106			24		0	0	1	0	0
S1PR1	1901	broad.mit.edu	37	1	101705127	101705127	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101705127C>T	uc021oqt.1	+	0	587	c.587C>T	c.(586-588)cCg>cTg	p.P196L	S1PR1_uc001dud.2_Missense_Mutation_p.P196L|S1PR1_uc009weg.2_Missense_Mutation_p.P196L	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	196					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						ACCGTGCTGCCGCTCTACCAC	0.562000											OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		195			19		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78372605	78372605	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372605G>A	uc001ozl.4	-	32	7903	c.7440C>T	c.(7438-7440)ttC>ttT	p.F2480F	ODZ4_uc001ozk.4_Silent_p.F705F	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2480					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTGTAGCTGGAATCCAAAGG	0.522000														33			5		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56716322	56716322	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56716322A>C	uc021zay.1	-	1	210	c.84T>G	c.(82-84)tcT>tcG	p.S28S	DST_uc011dxl.1_Silent_p.S17S|DST_uc021zba.1_Silent_p.S166S	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	0					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGCGGAGCCAGATTTCTGGC	0.512000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			10		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221133	8221133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8221133G>A	uc003gkv.4	+	8	1089	c.988G>A	c.(988-990)Gac>Aac	p.D330N	SH3TC1_uc003gkw.4_Missense_Mutation_p.D254N|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	330	SH3.						binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCGAGGTGGCGACCTCATCGA	0.677000														186			51		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325143	57325143	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57325143G>T	uc002qnu.2	-	6	5018	c.4667C>A	c.(4666-4668)gCc>gAc	p.A1556D	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A1527D|PEG3_uc002qnv.2_Missense_Mutation_p.A1556D|PEG3_uc002qnw.2_Missense_Mutation_p.A1432D|PEG3_uc002qnx.2_Missense_Mutation_p.A1430D|PEG3_uc010etr.2_Missense_Mutation_p.A1556D|PEG3-AS1_uc010ets.2_Non-coding_Transcript	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1556					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGCTTGATTGGCACCACCTGT	0.527000														149			30		1.7881e-09	1.98839e-09	1	1	0
WDR11	55717	broad.mit.edu	37	10	122650367	122650367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122650367C>T	uc021pzt.1	+	18	2729	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	WDR11_uc010qte.2_Missense_Mutation_p.A430V|WDR11_uc001lfd.1_Missense_Mutation_p.A346V	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	828						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						ATGAAGTCTGCGTGCTTTAGA	0.433000														157			41		0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890251	28890251	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28890251T>C	uc002hfh.3	+	4	952	c.261T>C	c.(259-261)atT>atC	p.I87I	TBC1D29_uc002hfi.3_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	87						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CCAGACCCATTTGTGAGAGCC	0.622000														37			12		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218778	134218778	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218778C>T	uc001lll.4	+	1	803	c.774C>T	c.(772-774)agC>agT	p.S258S	PWWP2B_uc009ybe.3_Silent_p.S258S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	258										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TCTCCTACAGCACGCCCCAGG	0.711000														58			13		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147632647	147632647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147632647G>A	uc003qlz.3	+	10	1304	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	STXBP5_uc010khz.2_Missense_Mutation_p.D377N|STXBP5_uc003qly.3_Missense_Mutation_p.D48N	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	377					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGTACTTATAGACCTTGCACA	0.313000														36			7		0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129455510	129455510	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129455510C>T	uc011maa.2	+	3	656	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W	LMX1B_uc004bqi.3_Missense_Mutation_p.R217W|LMX1B_uc004bqj.3_Missense_Mutation_p.R217W	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	194					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GAAGGACCCGCGGAGGCCCAA	0.652000									Nail-Patella Syndrome					44			4		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33434103	33434103	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33434103C>T	uc010wcd.1	-	4	700	c.444G>A	c.(442-444)ctG>ctA	p.L148L	RFFL_uc002hiq.2_Intron|RAD51D_uc010ctj.2_5'Flank|RFFL_uc002hir.2_Silent_p.L128L|RFFL_uc010wce.1_Silent_p.L9L|RFFL_uc002hit.2_Silent_p.L9L|RFFL_uc002hiu.2_Intron|RFFL_uc002his.2_Intron|RFFL_uc010ctk.2_Silent_p.L9L|RFFL_uc010wcf.1_Non-coding_Transcript|RFFL_uc002hiw.1_Non-coding_Transcript|RFFL_uc002hiv.1_Intron|RFFL_uc010ctl.1_Intron|RFFL_uc010ctm.1_Intron	NM_001142571	NP_001136043	Q8WZ73	RFFL_HUMAN	Homo sapiens RAD51 homolog D (S. cerevisiae) (RAD51D), transcript variant 6, 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)		CGTTTTGCTGCAGGCCATGGG	0.547000														158			32		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42481361	42481361	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42481361G>T	uc001zpd.3	-	5	477	c.326C>A	c.(325-327)aCt>aAt	p.T109N	VPS39_uc001zpc.3_Missense_Mutation_p.T98N	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	109	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGAAACCGTAGTGATTTGTTG	0.368000														79			16		1.99824e-07	2.15697e-07	1	1	0
OR8J1	219477	broad.mit.edu	37	11	56127922	56127922	+	Missense_Mutation	SNP	C	T	T	rs147013138		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56127922C>T	uc010rjh.2	+	0	232	c.200C>T	c.(199-201)gCt>gTt	p.A67V		NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 1 (OR8J1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					CAACATCTGGCTCTCATTAAT	0.443000														167			38		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21719209	21719209	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21719209A>C	uc002nqd.1	+	3	491	c.354A>C	c.(352-354)aaA>aaC	p.K118N	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AAGGCTATAAAACTGTAGGTG	0.343000														53			8		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347194	89347194	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347194G>A	uc002fmx.1	-	8	6217	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_uc002fmy.1_Missense_Mutation_p.A1919V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A1919V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A1876V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677000														177			38		0	0	1	0	0
UEVLD	55293	broad.mit.edu	37	11	18557951	18557951	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18557951A>G	uc001mot.3	-	10	1204	c.1124_splice	c.e10+1	p.R375_splice	UEVLD_uc001mou.3_Splice_Site_p.R375_splice|UEVLD_uc010rde.2_Splice_Site_p.R245_splice|UEVLD_uc010rdf.2_Splice_Site_p.R353_splice|UEVLD_uc010rdg.2_Splice_Site_p.R245_splice|UEVLD_uc001mov.3_Splice_Site_p.R353_splice	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	375					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						AGTCAGTGTTACCTGTTGGAC	0.368000														149			33		0	0	1	0	0
DHCR24	1718	broad.mit.edu	37	1	55319794	55319794	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55319794G>A	uc001cyc.1	-	6	1263	c.1134C>T	c.(1132-1134)taC>taT	p.Y378Y	DHCR24_uc010ooi.1_Silent_p.Y21Y|DHCR24_uc010ooj.1_Silent_p.Y192Y|DHCR24_uc010ook.1_Silent_p.Y337Y	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	378					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GGTGCTGCTCGTACAGCTTGC	0.607000														60			17		0	0	1	0	0
MYOZ3	91977	broad.mit.edu	37	5	150052037	150052037	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150052037G>T	uc003lss.2	+	5	1147	c.560G>T	c.(559-561)aGc>aTc	p.S187I	MYOZ3_uc003lsr.2_Missense_Mutation_p.S187I	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	187	Binding to ACTN2.					sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACACCCCCAGCCCCAACGAC	0.642000														49			12		7.03913e-09	7.75971e-09	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140809245	140809245	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140809245C>A	uc004cog.3	+	4	907	c.762C>A	c.(760-762)ttC>ttA	p.F254L	CACNA1B_uc022bqn.1_Missense_Mutation_p.F254L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	254					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AGGCCTGTTTCCCCAACAGCA	0.562000														54			6		0.00198382	0.00202356	1	1	0
DYNC1LI2	1783	broad.mit.edu	37	16	66785491	66785491	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66785491C>A	uc002eqb.1	-	0	35	c.4G>T	c.(4-6)Gcg>Tcg	p.A2S	DYNC1LI2_uc010vis.1_Missense_Mutation_p.A2S|DYNC1LI2_uc010vit.2_Missense_Mutation_p.A2S|DYNC1LI2_uc010viu.2_Missense_Mutation_p.A2S	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	2					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		CCCACCGGCGCCATCTTGCCA	0.756000														95			21		3.5997e-14	4.22413e-14	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140724707	140724707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724707C>T	uc003ljm.2	+	0	1107	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.I369I	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	372	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I369I(1)		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)			TTGCTCTTATCGACGTGCATG	0.438000														152			16		0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525877	248525877	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248525877C>A	uc001ieh.1	+	0	995	c.995C>A	c.(994-996)gCt>gAt	p.A332D		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			GTCATGGGGGCTCTGAAGAAA	0.408000														225			39		5.73237e-09	6.32816e-09	1	1	0
GBA2	57704	broad.mit.edu	37	9	35737268	35737268	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35737268C>T	uc011lpd.2	-	17	3199	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q	GBA2_uc003zxw.3_Silent_p.Q894Q|GBA2_uc003zxx.1_3'UTR|GBA2_uc011lpb.1_3'UTR|GBA2_uc011lpc.1_3'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	894					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTTTTGTGCTGCTGCTGTT	0.572000														180			28		0	0	1	0	0
TXNDC16	57544	broad.mit.edu	37	14	52957612	52957612	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52957612C>T	uc001wzs.3	-	9	1317	c.868G>A	c.(868-870)Gca>Aca	p.A290T	TXNDC16_uc010tqu.2_Missense_Mutation_p.A285T|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	290					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACCCATTCTGCAGTTCTTCTA	0.393000														106			20		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713615	222713615	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222713615C>T	uc001hnh.1	-	3	1245	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	396					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CGAGGGGACTCGGTACCGCTT	0.542000														157			57		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136481753	136481753	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136481753C>T	uc002tuo.3	+	25	3561	c.3191C>T	c.(3190-3192)gCt>gTt	p.A1064V	R3HDM1_uc010fni.3_Missense_Mutation_p.A1063V|R3HDM1_uc002tup.3_Missense_Mutation_p.A1009V|R3HDM1_uc010zbh.2_Missense_Mutation_p.A812V	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	1064							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TCCATTTCAGCTGCACAGAAT	0.468000														110			10		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114057903	114057903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114057903C>T	uc001kzr.1	+	6	748	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	250	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		CAATGCTTTCCGGTTCCAGAA	0.537000														110			19		0	0	1	0	0
MFAP2	4237	broad.mit.edu	37	1	17301766	17301766	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17301766C>T	uc001azw.3	-	7	579	c.446G>A	c.(445-447)cGa>cAa	p.R149Q	MFAP2_uc001azx.3_Missense_Mutation_p.R148Q|MFAP2_uc001azy.3_Missense_Mutation_p.R149Q|MFAP2_uc010ocl.2_Missense_Mutation_p.R148Q	NM_002403	NP_059453	P55001	MFAP2_HUMAN	Homo sapiens microfibrillar-associated protein 2 (MFAP2), transcript variant 2, mRNA.	149						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTTCCTACCTCGGAGGAGCTC	0.567000														60			9		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19839449	19839449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19839449C>T	uc002zqg.3	-	1	935	c.336G>A	c.(334-336)tgG>tgA	p.W112*	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Nonsense_Mutation_p.W112*|C22orf29_uc002zqi.3_Nonsense_Mutation_p.W112*|C22orf29_uc021wli.1_Nonsense_Mutation_p.W112*	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	112								p.P111P(1)		NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GGTCCAGTAGCCACGGGGAGC	0.622000														202			38		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36324351	36324351	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36324351C>T	uc003tfa.3	+	4	1738	c.1098C>T	c.(1096-1098)gaC>gaT	p.D366D		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	366					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AGCTGAGAGACGCGGGTTCAC	0.657000														300			70		0	0	1	0	0
FAM166B	730112	broad.mit.edu	37	9	35563812	35563812	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35563812C>A	uc011low.2	-	0	85	c.14G>T	c.(13-15)aGc>aTc	p.S5I	FAM166B_uc003zwy.3_Missense_Mutation_p.S5I|FAM166B_uc010mkr.3_Missense_Mutation_p.S5I|FAM166B_uc011lov.2_Missense_Mutation_p.S5I			A8MTA8	F166B_HUMAN	Homo sapiens family with sequence similarity 166, member B (FAM166B), transcript variant 2, mRNA.	5										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TATGAAGGTGCTGGCCACAGC	0.577000														82			8		0.000274275	0.000282808	1	1	0
CNTN3	5067	broad.mit.edu	37	3	74420531	74420531	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74420531G>A	uc003dpm.1	-	4	554	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	158	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ATTCATTGAAGATCCAAGCAT	0.393000														69			10		0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178553085	178553085	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178553085C>T	uc003mjw.3	-	17	2766	c.2664G>A	c.(2662-2664)aaG>aaA	p.K888K		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	888	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGTACCATCTTGTGGTCCA	0.657000														310			52		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31297423	31297423	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31297423C>T	uc003jhe.2	+	3	911	c.551C>T	c.(550-552)aCg>aTg	p.T184M	CDH6_uc003jhd.2_Missense_Mutation_p.T184M	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	184	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.A183V(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTCACTGCGACGGATGCAGAT	0.393000														89			20		0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170857333	170857333	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170857333G>A	uc003fhh.2	-	13	1690	c.1345C>T	c.(1345-1347)Cga>Tga	p.R449*	TNIK_uc003fhi.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhj.2_Intron|TNIK_uc003fhk.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhl.2_Intron|TNIK_uc003fhm.2_Nonsense_Mutation_p.R449*|TNIK_uc003fhn.2_Intron|TNIK_uc003fho.2_Intron	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	449	Mediates interaction with NEDD4.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCTAACTGTCGCCTGATGTAT	0.468000														162			60		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5687305	5687305	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5687305C>A	uc001mbm.2	-	5	1077	c.774G>T	c.(772-774)gaG>gaT	p.E258D	TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Missense_Mutation_p.E258D|TRIM5_uc001mbp.3_Missense_Mutation_p.E258D	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	258					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		AGGTCACGTTCTCCGTCCTAA	0.408000														63			13		9.31168e-06	9.81217e-06	1	1	0
ARHGAP27	201176	broad.mit.edu	37	17	43482416	43482416	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43482416G>A	uc002iix.3	-	2	548	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ARHGAP27_uc010dak.3_Silent_p.D33D|ARHGAP27_uc010wjl.1_Silent_p.D174D	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	374	SH3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CGGGAGAATAGTCCTCCTCGG	0.627000														87			26		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54969152	54969152	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54969152G>A	uc002qfv.1	+	11	1906	c.1762G>A	c.(1762-1764)Gag>Aag	p.E588K	LENG8_uc002qfw.2_Missense_Mutation_p.E625K|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	588							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGAGGTGTACGAGACCCATGC	0.667000														143			28		0	0	1	0	0
GALNT10	55568	broad.mit.edu	37	5	153709140	153709140	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153709140G>A	uc003lvh.3	+	3	542	c.410G>A	c.(409-411)aGc>aAc	p.S137N	GALNT10_uc003lvg.1_Missense_Mutation_p.S137N|GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.S40N	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.	137						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGCTGCAACAGCAAGCGCTAC	0.572000														141			34		0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150775933	150775933	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150775933C>T	uc003wix.1	-	2	779	c.681G>A	c.(679-681)ctG>ctA	p.L227L	AK296065_uc011kvf.2_5'Flank|FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Silent_p.L86L|FASTK_uc003wiz.1_Intron|FASTK_uc003wja.1_Intron	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	227					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		CAGCACCTGCCAGGCTGCTGA	0.617000														73			24		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112622084	112622084	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112622084G>T	uc021reb.1	-	60	10680	c.10284C>A	c.(10282-10284)gcC>gcA	p.A3428A		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CCGACACCGAGGCCGTCTCTG	0.652000														243			39		1.30998e-17	1.57366e-17	1	1	0
HOXB8	3218	broad.mit.edu	37	17	46691797	46691797	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691797C>T	uc002inw.3	-	0	505	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GGCGTTGCAGCGGGTCGTAGC	0.687000														190			10		0	0	1	0	0
BEND7	222389	broad.mit.edu	37	10	13542030	13542030	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13542030G>T	uc001imm.2	-	2	337	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	BEND7_uc001imo.4_Missense_Mutation_p.L14M	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	66							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGTCGTTCAGCAATCTTCTC	0.433000														215			45		5.34276e-22	6.57361e-22	1	1	0
MEI1	150365	broad.mit.edu	37	22	42128519	42128519	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128519G>T	uc003baz.1	+	10	1268	c.1243G>T	c.(1243-1245)Gat>Tat	p.D415Y	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Missense_Mutation_p.D415Y|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	415							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATGTGCAGAGATGCTGGCCG	0.552000														89			20		4.96729e-08	5.40616e-08	1	1	0
RAB9A	9367	broad.mit.edu	37	X	13727055	13727055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727055G>A	uc022bte.1	+	0	190	c.190G>A	c.(190-192)Gca>Aca	p.A64T	RAB9A_uc004cvm.3_Missense_Mutation_p.A64T|RAB9A_uc010neh.3_Missense_Mutation_p.A64T	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	64					protein transport|small GTPase mediated signal transduction	Golgi membrane|endoplasmic reticulum membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTGGGACACGGCAGGTCAGGA	0.428000														238			68		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43013546	43013546	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43013546C>T	uc010wji.2	-	1	268	c.167G>A	c.(166-168)gGc>gAc	p.G56D	KIF18B_uc002iht.3_Missense_Mutation_p.G56D|KIF18B_uc010wjh.2_Missense_Mutation_p.G56D	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				ATCATGGGTGCCACCCCATTT	0.617000														47			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107013102	107013102	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107013102C>A	uc021ser.1	-	218		c.8774G>T								Parts of antibodies, mostly variable regions.																		CCTACCCACTCCAGCCCCTTC	0.517000														189			40		7.62715e-32	9.62167e-32	1	1	0
ZC3H7B	23264	broad.mit.edu	37	22	41753416	41753416	+	Missense_Mutation	SNP	G	A	A	rs140753362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41753416G>A	uc003azw.3	+	22	3133	c.2917G>A	c.(2917-2919)Gcc>Acc	p.A973T		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	989					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGCTGCCACCGCCACCACTGG	0.662000														271			63		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197401903	197401903	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197401903G>T	uc003fyc.2	-	19	3088	c.2905C>A	c.(2905-2907)Ctg>Atg	p.L969M	KIAA0226_uc003fyd.3_Missense_Mutation_p.L924M|KIAA0226_uc021xjw.1_5'Flank	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	969					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GTGGCCTCCAGGACGGCGGCT	0.677000														180			36		3.21399e-22	3.95801e-22	1	1	0
OR10Q1	219960	broad.mit.edu	37	11	57995968	57995968	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57995968T>C	uc010rkd.2	-	0	423	c.380A>G	c.(379-381)tAt>tGt	p.Y127C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y127F(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GATAGCCACATAGCGGTCATA	0.607000														72			25		0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064772	191064772	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191064772A>G	uc021vub.1	+	0	186	c.186A>G	c.(184-186)gcA>gcG	p.A62A	C2orf88_uc002urq.3_Silent_p.A62A|C2orf88_uc002urr.3_Silent_p.A62A|C2orf88_uc002urs.3_Silent_p.A62A|C2orf88_uc002urt.3_Silent_p.A62A	NM_032321	NP_115697	Q9BSF0	CB088_HUMAN	Homo sapiens chromosome 2 open reading frame 88 (C2orf88), transcript variant 4, mRNA.	62										kidney(1)|large_intestine(1)|lung(1)	3						TGGAATATGCACACCGCCTGT	0.468000														251			55		0	0	1	0	0
NACC2	138151	broad.mit.edu	37	9	138905137	138905137	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138905137G>A	uc004cgv.4	-	4	1319	c.1163C>T	c.(1162-1164)aCg>aTg	p.T388M	NACC2_uc010nbh.3_Missense_Mutation_p.T27M	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	388	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						GTTGGCCAGCGTGTTCCTGGT	0.667000														157			41		0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144899948	144899948	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144899948G>A	uc003yzs.3	-	8	886	c.822C>T	c.(820-822)taC>taT	p.Y274Y	SCRIB_uc003yzo.1_5'Flank|SCRIB_uc003yzp.1_5'Flank|PUF60_uc003yzq.3_Silent_p.Y231Y|PUF60_uc003yzr.3_Silent_p.Y214Y|PUF60_uc003yzt.3_Silent_p.Y257Y|PUF60_uc003yzu.1_Silent_p.Y263Y	NM_078480	NP_510965	Q9UHX1	PUF60_HUMAN	Homo sapiens poly-U binding splicing factor 60KDa (PUF60), transcript variant 1, mRNA.	274	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 2.				RNA splicing|apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGGCCTTCTCGTACTCTGTGG	0.642000														60			9		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88690390	88690390	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88690390G>A	uc010voz.2	+	11	2090	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	ZC3H18_uc002fky.3_Silent_p.P606P|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	606	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CTTCGTCCCCGTCCCCGTCCC	0.652000														236			56		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34648046	34648046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34648046G>A	uc010ucc.2	+	7	2219	c.1837G>A	c.(1837-1839)Ggg>Agg	p.G613R	C15orf55_uc010ucd.2_Missense_Mutation_p.G603R|C15orf55_uc001zif.3_Missense_Mutation_p.G585R	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	585						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGAGAGGAGAGGGTCTGGGAA	0.597000			T	"""BRD3, BRD4"""	lethal midline carcinoma									121			12		0	0	1	0	0
ANXA2	302	broad.mit.edu	37	9	33624930	33624930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33624930G>A	uc010mjx.3	+	0	708	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	220					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ATGACCGAGCGGAGCGTGCCC	0.473000														92			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179457732	179457732	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179457732C>T	uc021vsy.1	-	248	51635	c.51410G>A	c.(51409-51411)cGt>cAt	p.R17137H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10832H|TTN_uc021vta.1_Missense_Mutation_p.R10765H|TTN_uc021vtb.1_Missense_Mutation_p.R10640H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18064	Ig-like 102.						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)			ACCATCATGACGTGGTGGCTG	0.418000														212			74		0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132197621	132197621	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132197621T>C	uc003kxz.1	-	1	1277	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	GDF9_uc011cxj.1_Missense_Mutation_p.Y254C	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	342					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.E341K(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGTCTGAAGTATTCACTCAG	0.483000														141			28		0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49954801	49954801	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49954801G>A	uc002pns.2	-	0	315	c.31C>T	c.(31-33)Cta>Tta	p.L11L	PIH1D1_uc010yap.2_Silent_p.L11L|PIH1D1_uc010yaq.2_Silent_p.L11L|ALDH16A1_uc002pnt.3_5'Flank|ALDH16A1_uc010yar.2_5'Flank|ALDH16A1_uc010yas.2_5'Flank|ALDH16A1_uc010yat.2_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	11					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCGCTTAGCCCCATTCCC	0.612000														141			31		0	0	1	0	0
SEMA6D	80031	broad.mit.edu	37	15	48055280	48055280	+	Silent	SNP	C	T	T	rs141276774		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48055280C>T	uc010bek.3	+	8	1086	c.726C>T	c.(724-726)gtC>gtT	p.V242V	SEMA6D_uc001zvw.3_Silent_p.V242V|SEMA6D_uc001zvx.1_Silent_p.V242V|SEMA6D_uc001zvy.3_Silent_p.V242V|SEMA6D_uc001zvz.3_Silent_p.V242V|SEMA6D_uc001zwa.3_Silent_p.V242V|SEMA6D_uc001zwb.3_Silent_p.V242V|SEMA6D_uc001zwc.3_Silent_p.V242V	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	242	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.V242V(2)|p.A241T(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAATCGCTGTCGAACATAATA	0.363000														29			8		0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88261694	88261694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88261694G>A	uc003hqp.2	-	5	993	c.760C>T	c.(760-762)Cag>Tag	p.Q254*		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	254					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ATCATCTTCTGCTCAGTCAGA	0.363000														69			19		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2747723	2747723	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2747723G>A	uc003jda.3	-	3	1613	c.1371C>T	c.(1369-1371)agC>agT	p.S457S	IRX2_uc003jdb.3_Silent_p.S457S	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	457						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGCAGCCCTCGCTGGCATCTG	0.642000														81			27		0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377733	19377733	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:19377733C>T	uc010tkp.2	+	0	140	c.140C>T	c.(139-141)aCt>aTt	p.T47I		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACTCTTTACTACAACATAT	0.423000														121			12		0	0	1	0	0
FAM57A	79850	broad.mit.edu	37	17	644642	644642	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:644642C>T	uc002frp.3	+	4	647	c.606C>T	c.(604-606)tcC>tcT	p.S202S	FAM57A_uc002frq.3_Silent_p.S170S|FAM57A_uc002frr.3_Silent_p.S112S	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN	Homo sapiens family with sequence similarity 57, member A (FAM57A), mRNA.	202	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTACTGGTCCTATGGCCGCC	0.542000														113			27		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48578084	48578084	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48578084G>A	uc003gyh.1	-	23	3289	c.2684C>T	c.(2683-2685)gCg>gTg	p.A895V	FRYL_uc003gyk.3_Missense_Mutation_p.A895V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	895					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGGGTAGACGCCAGCGTCTC	0.448000														168			35		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGGCAAATTTCGTCCAACCTT	0.388000														91			24		0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6730700	6730700	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6730700G>A	uc003sqt.1	-	4	2427	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	ZNF12_uc011jxa.1_Nonsense_Mutation_p.R463*|ZNF12_uc003sqs.1_Nonsense_Mutation_p.R587*	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	625					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGAATTCGATGATGTATA	0.413000														52			10		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436108	11436108	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11436108G>T	uc002mqx.3	-	4	887	c.626C>A	c.(625-627)gCt>gAt	p.A209D	TSPAN16_uc002mqv.1_Intron	NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	209					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GGGGGCTGGAGCATCCCCCAC	0.667000														51			13		0.00010058	0.000104357	1	1	0
COL2A1	1280	broad.mit.edu	37	12	48391959	48391959	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48391959A>G	uc001rqu.3	-	3	516	c.335T>C	c.(334-336)aTc>aCc	p.I112T	COL2A1_uc001rqv.3_Missense_Mutation_p.I43T	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	112					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.A111V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TACATCCTTGATGTCTCCAGG	0.483000														115			25		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30745907	30745907	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30745907G>T	uc002dze.1	+	30	7085	c.6700G>T	c.(6700-6702)Gcc>Tcc	p.A2234S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A2029S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2234	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGAGACTGTGGCCAGCAAGCA	0.478000														132			44		1.8453e-21	2.26605e-21	1	1	0
ADAM7	8756	broad.mit.edu	37	8	24346730	24346730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24346730G>A	uc003xeb.3	+	11	1263	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAM7_uc003xec.3_Missense_Mutation_p.D156N	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	384	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GTACTTGAAGGATTATAAGCC	0.353000														81			17		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2121030	2121030	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121030C>T	uc002lva.3	-	13	1535	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	AP3D1_uc002luy.3_Missense_Mutation_p.A347T|AP3D1_uc002luz.3_Missense_Mutation_p.A438T	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	438					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTTGGGCGGCGATGAGGTGG	0.662000														149			20		0	0	1	0	0
DEDD	9191	broad.mit.edu	37	1	161094177	161094177	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161094177G>T	uc009wty.3	-	1	173	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_Missense_Mutation_p.L26M|DEDD_uc001fya.3_Missense_Mutation_p.L26M|DEDD_uc001fyb.3_Missense_Mutation_p.L26M|DEDD_uc010pkb.2_Missense_Mutation_p.L26M	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.	26	DED.				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ATGCGGTGCAGGCTGTACAGC	0.572000														143			33		2.48696e-23	3.07766e-23	1	1	0
HTR1D	3352	broad.mit.edu	37	1	23519707	23519707	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23519707C>A	uc001bgn.3	-	0	1516	c.1006G>T	c.(1006-1008)Gcg>Tcg	p.A336S		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	336					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TCAAAGAGCGCCGGGTGGATC	0.512000														166			40		1.59932e-28	2.00788e-28	1	1	0
STX7	8417	broad.mit.edu	37	6	132785210	132785210	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132785210G>A	uc003qdg.2	-	8	865	c.615C>T	c.(613-615)agC>agT	p.S205S	STX7_uc011ecg.1_Non-coding_Transcript|STX7_uc011ech.1_Silent_p.S30S	NM_003569	NP_003560	O15400	STX7_HUMAN	Homo sapiens syntaxin 7 (STX7), mRNA.	205	t-SNARE coiled-coil homology.				intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity	p.S205C(1)|p.D204_S205>EC(1)|p.D204E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		TGGCTTCTATGCTATCTGTAA	0.363000														135			16		0	0	1	0	0
C1orf124	83932	broad.mit.edu	37	1	231487087	231487087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231487087G>A	uc001hur.3	+	3	936	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	C1orf124_uc001hus.3_Missense_Mutation_p.R163Q|C1orf124_uc001hut.3_Missense_Mutation_p.R120Q	NM_032018	NP_114407	Q9H040	CA124_HUMAN	Homo sapiens chromosome 1 open reading frame 124 (C1orf124), transcript variant 1, mRNA.	163					DNA repair	nuclear speck	DNA binding|metal ion binding	p.Y162H(1)		NS(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GATGAGTATCGGCGACACTGG	0.458000														149			39		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355722	34355722	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355722G>T	uc001zhk.1	+	2	1474	c.804G>T	c.(802-804)caG>caT	p.Q268H	CHRM5_uc001zhl.1_Missense_Mutation_p.Q268H|CHRM5_uc021sir.1_Missense_Mutation_p.Q268H	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	268					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AAAGGAACCAGGCCTCCTGGT	0.612000														185			36		1.836e-18	2.21806e-18	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56092293	56092293	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092293A>G	uc001shh.3	-	6	1298	c.1078T>C	c.(1078-1080)Tat>Cat	p.Y360H	ITGA7_uc001shg.3_Missense_Mutation_p.Y356H|ITGA7_uc010sps.2_Missense_Mutation_p.Y263H|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.Y243H	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	400					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTACACATACACAGCACCC	0.607000														143			31		0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61781939	61781939	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781939G>A	uc002jbm.3	-	10	1136	c.862C>T	c.(862-864)Ctg>Ttg	p.L288L	STRADA_uc002jbn.3_Silent_p.L230L|STRADA_uc010wpq.2_Silent_p.L244L|STRADA_uc010wpr.2_Silent_p.L259L|STRADA_uc002jbo.3_Silent_p.L251L|STRADA_uc002jbp.3_Silent_p.L251L|STRADA_uc010ddw.3_Silent_p.L259L|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	288	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCTCTAGCAGCATCTGGGGA	0.612000														113			20		0	0	1	0	0
SENP2	59343	broad.mit.edu	37	3	185304209	185304209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185304209G>A	uc003fpn.3	+	0	179	c.8G>A	c.(7-9)aGa>aAa	p.R3K	SENP2_uc011brv.2_Intron|SENP2_uc011brw.2_5'UTR	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	3					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGTATGTACAGATGGCTGGTT	0.657000														332			79		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8564513	8564513	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8564513G>A	uc002mkd.3	-	1	242	c.179C>T	c.(178-180)cCg>cTg	p.P60L		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	60	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCAGCGGGGCCTTCTT	0.622000														297			65		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101877433	101877433	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877433C>T	uc003uys.4	+	21	3695	c.3568C>T	c.(3568-3570)Cga>Tga	p.R1190*	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Nonsense_Mutation_p.R1179*	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1179					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCTGAAAGGACGAGAGCCCTT	0.557000														116			34		0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771863	90771863	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771863C>A	uc002boy.3	+	14	2785	c.2502C>A	c.(2500-2502)gaC>gaA	p.D834E	SEMA4B_uc002boz.3_Missense_Mutation_p.D834E|SEMA4B_uc010uqd.2_Missense_Mutation_p.D672E|SEMA4B_uc002bpa.3_Missense_Mutation_p.D672E	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.									p.C821fs*>1(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AGATCCGTGACTCTGTGGTGT	0.627000														110			24		2.44723e-14	2.87423e-14	1	1	0
WDR25	79446	broad.mit.edu	37	14	100847746	100847746	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847746G>A	uc010avx.3	+	1	578	c.485G>A	c.(484-486)aGc>aAc	p.S162N	WDR25_uc001yhn.3_Missense_Mutation_p.S162N|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Missense_Mutation_p.S154N	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	162										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				AAAAATGGCAGCTCTTTTCAG	0.468000														230			44		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81183400	81183400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81183400C>T	uc002fgh.1	-	27	4648	c.4648G>A	c.(4648-4650)Gtc>Atc	p.V1550I	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1550					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	p.V1550F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACCCTCTGGACGCGGGTGAAG	0.587000														71			24		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671858	186671858	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671858G>A	uc002upl.3	+	16	18092	c.18092G>A	c.(18091-18093)gGa>gAa	p.G6031E	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AACAGTAATGGAGAAAATTTA	0.318000														97			19		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173998885G>A	uc021xhm.1	+	6	2704	c.2384G>A	c.(2383-2385)cGg>cAg	p.R795Q	NLGN1_uc003fio.1_Missense_Mutation_p.R755Q|NLGN1_uc003fip.1_Missense_Mutation_p.R755Q	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	772					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	p.R755Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTCTTCGGACCGCCTGT	0.458000														123			22		0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452334	203452334	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203452334C>A	uc001gzs.3	+	1	222	c.22C>A	c.(22-24)Ctc>Atc	p.L8I	PRELP_uc001gzt.3_Missense_Mutation_p.L8I	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	8					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTGCTGGCTCCTCCCACT	0.592000														274			50		3.68337e-26	4.59935e-26	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85600086	85600086	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85600086C>T	uc003hpd.3	-	64	10541	c.10133G>A	c.(10132-10134)aGc>aAc	p.S3378N	WDFY3_uc003hpc.3_Missense_Mutation_p.S133N	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3378						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTTCAATCTGCTGTAATTCCG	0.517000														202			37		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53191042	53191042	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53191042T>C	uc002ehb.3	+	0	1205	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G	CHD9_uc002egy.3_Silent_p.G347G|CHD9_uc002egz.1_Silent_p.G347G|CHD9_uc002ehc.3_Silent_p.G347G	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	347					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCCTCAGGGTAATTATAGCA	0.358000														26			3		0	0	1	0	0
ABHD13	84945	broad.mit.edu	37	13	108881891	108881891	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108881891G>A	uc001vqq.3	+	1	590	c.325G>A	c.(325-327)Gac>Aac	p.D109N	ABHD13_uc021rml.1_Missense_Mutation_p.D109N	NM_032859	NP_116248	Q7L211	ABHDD_HUMAN	Homo sapiens abhydrolase domain containing 13 (ABHD13), mRNA.	109						integral to membrane	hydrolase activity	p.G108*(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATACACTGGAGACAATTCACC	0.383000														74			11		0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54554920	54554920	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54554920C>A	uc002iun.1	+	14	1889	c.1854C>A	c.(1852-1854)ctC>ctA	p.L618L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	618										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACCTAAAGCTCTGTAGCTCTG	0.368000														101			32		1.08312e-15	1.2841e-15	1	1	0
SEL1L3	23231	broad.mit.edu	37	4	25806207	25806207	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25806207C>A	uc003gru.4	-	9	1884	c.1732G>T	c.(1732-1734)Gtc>Ttc	p.V578F	SEL1L3_uc003grv.3_5'UTR	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	578						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TCATAAAAGACTGCAAGGTAG	0.423000														31			3		6.4e-05	6.6609e-05	1	1	0
DDX39B	7919	broad.mit.edu	37	6	31498650	31498650	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31498650G>A	uc003ntt.3	-	9	1834	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	DDX39B_uc003ntr.3_Silent_p.S199S|DDX39B_uc003ntu.3_Silent_p.S392S|DDX39B_uc011dnn.2_Silent_p.S314S|DDX39B_uc003ntv.3_Silent_p.S392S	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	392	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						CATTCTCATCGGACACAAATG	0.512000														87			23		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48495698	48495698	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48495698A>C	uc003ctf.1	+	4	585	c.553_splice	c.e4-2	p.L185_splice	ATRIP_uc011bbj.1_Splice_Site_p.L58_splice|ATRIP_uc003ctg.1_Splice_Site_p.L185_splice	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	185					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTTGCCTTCCAGCTCCAATCA	0.393000								Other conserved DNA damage response genes						229			47		0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328346	137328346	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137328346G>A	uc004cfb.2	+	9	1437	c.1275G>A	c.(1273-1275)ctG>ctA	p.L425L	RXRA_uc004cfc.1_Silent_p.L328L	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	425	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TGCCGGCTCTGCGCTCCATCG	0.617000														257			13		0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21955759	21955759	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21955759C>A	uc011kyx.2	+	5	757	c.706C>A	c.(706-708)Ctg>Atg	p.L236M	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	236										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GACCGAGGAGCTGGACGGTGG	0.652000														29			7		0.0293803	0.0295844	1	1	0
PMS2	5395	broad.mit.edu	37	7	6017283	6017283	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017283G>A	uc003spl.3	-	13	2468	c.2381C>T	c.(2380-2382)cCt>cTt	p.P794L	PMS2_uc003spj.3_Missense_Mutation_p.P688L|PMS2_uc003spk.3_Missense_Mutation_p.P659L|PMS2_uc011jwl.2_Missense_Mutation_p.P659L|PMS2_uc010ktg.3_Missense_Mutation_p.P483L|PMS2_uc010kte.3_Missense_Mutation_p.P393L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	794					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CATGACCCCAGGGCTGTCGCT	0.542000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					102			22		0	0	1	0	0
LCLAT1	253558	broad.mit.edu	37	2	30756073	30756073	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30756073G>A	uc002rnj.3	+	3	580	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	LCLAT1_uc010ymp.2_5'UTR|LCLAT1_uc002rnk.1_Missense_Mutation_p.R124Q|LCLAT1_uc002rnl.3_Missense_Mutation_p.R86Q|LCLAT1_uc010ymq.2_Missense_Mutation_p.R86Q	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	124					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						ATGAACCATCGGACAAGAATG	0.413000														264			59		0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150498908	150498908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150498908G>A	uc003ltl.2	-	17	1619	c.1391C>T	c.(1390-1392)aCt>aTt	p.T464I	ANXA6_uc011dcp.2_Missense_Mutation_p.T432I|ANXA6_uc003lto.2_Missense_Mutation_p.T51I	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	464						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGTCCGAGTGGCCAGGAT	0.552000														137			27		0	0	1	0	0
RGS19	10287	broad.mit.edu	37	20	62705215	62705215	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62705215G>A	uc002yhy.3	-	5	912	c.645C>T	c.(643-645)tcC>tcT	p.S215S	RGS19_uc002yhz.3_Silent_p.S193S|RGS19_uc002yib.3_Silent_p.S215S	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	215	Interaction with GIPC.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCTAGGCCTCGGAGGAGGACT	0.662000														132			28		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	40978533	40978533	+	Missense_Mutation	SNP	C	T	T	rs139091351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40978533C>T	uc002ony.3	+	1	91	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SPTBN4_uc002onx.3_Missense_Mutation_p.A2V|SPTBN4_uc002onz.3_Missense_Mutation_p.A2V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2	Actin-binding.				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)			TCCCCGATGGCGCAGGTACCA	0.597000														57			8		0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135287026	135287026	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135287026A>G	uc003lbe.1	-	2	376	c.175T>C	c.(175-177)Ttg>Ctg	p.L59L	FBXL21_uc003lbc.3_Non-coding_Transcript	NM_002302	NP_002293	O14960	LECT2_HUMAN	Homo sapiens leukocyte cell-derived chemotaxin 2 (LECT2), mRNA.	59					chemotaxis|skeletal system development	cytoplasm|extracellular space		p.I58V(1)		large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGAGCACAAGATGTCCACA	0.473000														95			20		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36185729	36185729	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185729G>A	uc003olv.4	+	8	3249	c.3025G>A	c.(3025-3027)Ggg>Agg	p.G1009R	BRPF3_uc010jwb.3_Missense_Mutation_p.G739R|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1009					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.G1009W(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CACCGAAAGCGGGTCTGACTC	0.512000														105			25		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151846148	151846148	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151846148A>C	uc003wla.3	-	51	13083	c.12864T>G	c.(12862-12864)gaT>gaG	p.D4288E	MLL3_uc003wkz.3_Missense_Mutation_p.D3406E|MLL3_uc003wkx.3_Missense_Mutation_p.D446E|MLL3_uc003wky.3_Missense_Mutation_p.D1852E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4288					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACAGTGCACATCCAAAGTGG	0.527000			N		medulloblastoma									62			5		0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33281111	33281111	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33281111G>T	uc010abf.3	+	17	2083	c.1897G>T	c.(1897-1899)Gca>Tca	p.A633S	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	633					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGATGGAACAGCAGATGATGA	0.323000														63			8		1.76689e-08	1.93511e-08	1	1	0
MAPT	4137	broad.mit.edu	37	17	44060851	44060851	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44060851C>A	uc002ijr.4	+	5	1003	c.681C>A	c.(679-681)tcC>tcA	p.S227S	MAPT_uc010dau.3_Silent_p.S227S|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron|MAPT_uc021tyx.1_Silent_p.S75S	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	227					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCGATGAGTCCTCCCCCCAAG	0.687000														58			11		1.61879e-10	1.82465e-10	1	1	0
OTOA	146183	broad.mit.edu	37	16	21739636	21739636	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21739636C>T	uc002djh.3	+	18	2092	c.2091C>T	c.(2089-2091)atC>atT	p.I697I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.I618I|OTOA_uc002dji.3_Silent_p.I373I|OTOA_uc010vbk.2_Silent_p.I345I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	711					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGCCATCATCGACAGGGGGA	0.582000														198			11		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54547231	54547231	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54547231C>T	uc002lgk.1	+	20	3572	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.R1088W	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1121										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CGAGGAAAGACGGAAGCAAGC	0.378000														68			19		0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40269004	40269004	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40269004C>T	uc001zkm.1	+	11	2258	c.2208C>T	c.(2206-2208)gaC>gaT	p.D736D	EIF2AK4_uc010bbj.1_Silent_p.D465D	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	736	Protein kinase 2.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		ACGAGGACGACGACGAGGACG	0.657000														239			47		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138936758	138936758	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138936758C>A	uc011kqr.2	+	2	618	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	206										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTGATATAGGCTTTGGCTATG	0.388000														112			12		0.00010058	0.000104357	1	1	0
VNN3	55350	broad.mit.edu	37	6	133044130	133044130	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133044130G>A	uc011ecm.2	-	6	1559	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	VNN3_uc010kfs.3_Silent_p.L189L|VNN3_uc011ecl.2_Non-coding_Transcript|VNN3_uc011ecn.2_Silent_p.L223L|VNN3_uc010kfu.3_Silent_p.L223L|VNN3_uc010kfv.3_Non-coding_Transcript|VNN3_uc010kfw.3_Silent_p.L223L|VNN3_uc010kfx.3_Silent_p.L189L|VNN3_uc010kfy.3_Silent_p.L189L|VNN3_uc010kfz.3_3'UTR					Homo sapiens vanin 3 (VNN3), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		CTTCCATACAGGGCCATAACT	0.498000														67			15		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6643477	6643477	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6643477C>T	uc001mem.1	-	20	9831	c.9430G>A	c.(9430-9432)Gca>Aca	p.A3144T	TPP1_uc001mek.1_5'Flank|TPP1_uc001mel.1_5'Flank|TPP1_uc010rar.1_5'Flank|DCHS1_uc021qdb.1_Missense_Mutation_p.A99T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	3144					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGCACCTGCCACACATGGC	0.657000														33			7		0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59027866	59027866	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59027866G>A	uc002qtd.3	-	1	1467	c.1175C>T	c.(1174-1176)cCt>cTt	p.P392L	ZBTB45_uc002qtf.3_Missense_Mutation_p.P392L	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	392	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GGTGCGAGCAGGGGTGCCTGA	0.642000														67			18		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124270422	124270422	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124270422C>T	uc001uft.4	+	8	1202	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	393	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTCATGGAGCGCATCGCCTG	0.522000														155			35		0	0	1	0	0
MID1IP1	58526	broad.mit.edu	37	X	38664233	38664233	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38664233C>T	uc022buw.1	+	0	34	c.34C>T	c.(34-36)Cac>Tac	p.H12Y	MID1IP1_uc004dei.4_Missense_Mutation_p.H12Y|MID1IP1_uc010ngz.3_Missense_Mutation_p.H12Y|MID1IP1_uc004dej.4_Missense_Mutation_p.H12Y	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	12					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						CAACCAGAAGCACTCGCTCTT	0.627000														90			19		0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588892	204588892	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204588892G>A	uc021phy.1	-	0	229	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Nonsense_Mutation_p.Q77*|LRRN2_uc001hbf.1_Nonsense_Mutation_p.Q77*|LRRN2_uc009xbf.1_Nonsense_Mutation_p.Q77*|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	77					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)			CTGTTGCTCTGCAGGAGCAGG	0.617000														154			34		0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509222	92509222	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92509222C>A	uc001kha.3	-	1	912	c.669G>T	c.(667-669)caG>caT	p.Q223H	HTR7_uc001kgz.3_Missense_Mutation_p.Q223H|HTR7_uc001khb.3_Missense_Mutation_p.Q223H	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	223					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CATTTACATTCTGAGCCCATC	0.483000														138			39		3.61848e-18	4.36538e-18	1	1	0
CHL1	10752	broad.mit.edu	37	3	407729	407729	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:407729A>G	uc003bot.3	+	14	2324	c.1682A>G	c.(1681-1683)aAa>aGa	p.K561R	CHL1_uc003bou.3_Missense_Mutation_p.K545R|CHL1_uc003bow.2_Missense_Mutation_p.K545R|CHL1_uc011asi.2_Missense_Mutation_p.K561R|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	545	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TCACATTTGAAACACAGTTTG	0.358000														80			18		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215820074	215820074	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215820074A>G	uc002vew.3	-	42	6465	c.6245T>C	c.(6244-6246)tTt>tCt	p.F2082S	ABCA12_uc002vev.3_Missense_Mutation_p.F1764S|ABCA12_uc010zjn.2_Missense_Mutation_p.F1009S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2082					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)		CATCCAGGAAAATGTTGCATA	0.438000														84			26		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50616055	50616055	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50616055T>C	uc001rwj.4	-	3	553	c.379A>G	c.(379-381)Aga>Gga	p.R127G	LIMA1_uc001rwh.4_5'UTR|LIMA1_uc001rwi.4_5'UTR|LIMA1_uc001rwk.4_Missense_Mutation_p.R127G|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	127					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						AGTCTAGATCTGGGGTGGATT	0.507000														124			29		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39880299	39880299	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39880299G>T	uc002old.3	-	3	448	c.273C>A	c.(271-273)acC>acA	p.T91T	PAF1_uc010xuv.2_Intron|PAF1_uc002ole.1_Silent_p.T81T|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	91					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGATGCGGTAGGTGTCAGGAT	0.587000														155			37		1.04352e-10	1.17799e-10	1	1	0
RAI1	10743	broad.mit.edu	37	17	17699003	17699003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17699003G>A	uc002grm.3	+	2	3210	c.2741G>A	c.(2740-2742)tGg>tAg	p.W914*	RAI1_uc002grn.1_Nonsense_Mutation_p.W914*	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	914						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGGCCGGCTGGGGCTCTCCG	0.647000														83			19		0	0	1	0	0
ATP7B	540	broad.mit.edu	37	13	52524499	52524499	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52524499G>A	uc001vfw.2	-	9	2641	c.2484C>T	c.(2482-2484)ggC>ggT	p.G828G	ATP7B_uc001vfy.2_Silent_p.G717G|ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.G666G|ATP7B_uc010tgt.1_Silent_p.G828G|ATP7B_uc010tgu.1_Silent_p.G780G|ATP7B_uc010tgv.1_Silent_p.G750G|ATP7B_uc001vfv.2_Silent_p.G100G|ATP7B_uc010tgs.1_Silent_p.G100G	NM_000053	NP_000044	P35670	ATP7B_HUMAN	Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.	828					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGACGATATCGCCCCGCTGCA	0.567000									Wilson disease					106			14		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40524102	40524102	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40524102G>T	uc011azb.2	+	4	629	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	ZNF619_uc011aza.2_Missense_Mutation_p.D10Y|ZNF619_uc011azc.2_Missense_Mutation_p.D68Y|ZNF619_uc011azd.2_Missense_Mutation_p.D24Y|ZNF619_uc003ckj.3_Missense_Mutation_p.R35I|ZNF619_uc021wwh.1_Missense_Mutation_p.R35I	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCCCAAACCAGATCTGATATT	0.532000														177			38		2.87052e-16	3.42015e-16	1	1	0
LCK	3932	broad.mit.edu	37	1	32740348	32740348	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32740348G>A	uc001bux.3	+	2	254	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	LCK_uc001buy.3_Missense_Mutation_p.R39Q|LCK_uc001buz.3_Missense_Mutation_p.R39Q|LCK_uc010ohc.1_Missense_Mutation_p.R83Q|LCK_uc001bva.3_Missense_Mutation_p.R39Q	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	39	Interactions with CD4 and CD8 (By similarity).				T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction	Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTGCTCATCCGAAATGGCTCT	0.627000			T	TRB@	T-ALL									92			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058483	9058483	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9058483T>C	uc002mkp.3	-	2	29167	c.28963A>G	c.(28963-28965)Aca>Gca	p.T9655A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9657	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T5288A(1)|p.T9655A(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCAGATTCTGTCATGATGGGA	0.502000														93			26		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316881	30316881	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316881C>T	uc009xle.2	-	2	2333	c.2196G>A	c.(2194-2196)acG>acA	p.T732T	KIAA1462_uc001iux.3_Silent_p.T732T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.T594T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	732								p.T732M(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATGCTGTGTGCGTCTGAGCTT	0.572000														117			8		0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27069065	27069065	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27069065A>G	uc001rhk.4	-	10	1655	c.1118T>C	c.(1117-1119)aTt>aCt	p.I373T	ASUN_uc001rhj.4_5'UTR|ASUN_uc010sjk.2_Missense_Mutation_p.I272T	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN	Homo sapiens asunder, spermatogenesis regulator homolog (Drosphila) (ASUN), mRNA.	373					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CATATGACTAATGACTTTAGA	0.388000														38			19		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231308927	231308927	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231308927T>C	uc002vqt.3	+	3	446	c.305T>C	c.(304-306)gTa>gCa	p.V102A	SP100_uc002vqs.3_Missense_Mutation_p.V102A|SP100_uc002vqu.1_Missense_Mutation_p.V102A|SP100_uc010zmb.2_Missense_Mutation_p.V102A|SP100_uc002vqq.2_Missense_Mutation_p.V102A|SP100_uc010zmc.2_Missense_Mutation_p.V77A|SP100_uc002vqv.2_Missense_Mutation_p.V67A	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	102	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CTGGTCCCTGTACAGAGAGTG	0.398000														138			30		0	0	1	0	0
C14orf102	55051	broad.mit.edu	37	14	90754819	90754819	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90754819C>A	uc001xyi.2	-	10	3133	c.2900G>T	c.(2899-2901)aGc>aTc	p.S967I	C14orf102_uc010atp.1_Missense_Mutation_p.S472I|C14orf102_uc001xyj.2_Missense_Mutation_p.S736I	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	967							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TCTCAGCAGGCTCGTGTGCAT	0.542000														121			25		1.77063e-15	2.09702e-15	1	1	0
GJA9	81025	broad.mit.edu	37	1	39340391	39340391	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39340391T>C	uc021olr.1	-	0	1380	c.1380A>G	c.(1378-1380)ggA>ggG	p.G460G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	460					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			ATTGAGAATCTCCTTGTGAAG	0.488000														117			16		0	0	1	0	0
MRPL28	10573	broad.mit.edu	37	16	419132	419132	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:419132G>A	uc002cgs.2	-	2	455	c.377C>T	c.(376-378)aCt>aTt	p.T126I		NM_006428	NP_006419	Q13084	RM28_HUMAN	Homo sapiens mitochondrial ribosomal protein L28 (MRPL28), nuclear gene encoding mitochondrial protein, mRNA.	126					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			breast(1)|kidney(1)|lung(1)|ovary(1)|prostate(1)	5		Hepatocellular(16;0.000105)|Lung NSC(18;0.0324)|all_lung(18;0.064)				CATGGTCACAGTCACTGTGAA	0.547000														129			35		0	0	1	0	0
TRIM41	90933	broad.mit.edu	37	5	180661696	180661696	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180661696C>T	uc003mne.2	+	5	2551	c.1814C>T	c.(1813-1815)tCg>tTg	p.S605L	TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Missense_Mutation_p.S185L	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	605	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACACCTTCTCGGCTGCCTTC	0.602000														305			53		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75898987	75898987	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75898987C>A	uc021zbv.1	-	5	804	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.V257L|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'Flank	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	257	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAATTTCCACTTCATCCTGG	0.373000														49			11		1.58986e-06	1.69271e-06	1	1	0
FASN	2194	broad.mit.edu	37	17	80042511	80042511	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80042511G>A	uc002kdu.3	-	26	4763	c.4646C>T	c.(4645-4647)tCc>tTc	p.S1549F	FASN_uc002kdv.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1549					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GCGCAGCGAGGAGCAGACCCA	0.657000														22			4		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185678324	185678324	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185678324A>C	uc003iww.2	-	20	2346	c.2052T>G	c.(2050-2052)taT>taG	p.Y684*	ACSL1_uc011ckm.1_Nonsense_Mutation_p.Y513*|ACSL1_uc003iwt.1_Nonsense_Mutation_p.Y684*|ACSL1_uc003iwu.1_Nonsense_Mutation_p.Y684*|ACSL1_uc011ckn.1_Nonsense_Mutation_p.Y650*|ACSL1_uc003iws.1_Nonsense_Mutation_p.Y244*	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	684					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCGACCTGAAATAGTTCCGCA	0.458000														215			10		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182781011	182781011	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182781011G>T	uc002uoi.3	+	10	2966	c.2644G>T	c.(2644-2646)Gct>Tct	p.A882S	SSFA2_uc002uoh.3_Missense_Mutation_p.A882S|SSFA2_uc002uoj.3_Missense_Mutation_p.A882S|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.A729S|SSFA2_uc002uol.3_Missense_Mutation_p.A729S|SSFA2_uc002uom.3_Missense_Mutation_p.A350S	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	882						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TAGTGCCTTCGCTTCCCCTTT	0.517000														140			42		2.26627e-22	2.79311e-22	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111090508	111090508	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111090508G>A	uc004epl.1	-	5	2453	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	TRPC5_uc004epm.1_Missense_Mutation_p.R512C	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	512					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCAGCATGCGTCCCAAAGAG	0.443000														136			34		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855359	53855359	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855359T>C	uc010ydv.1	+	3	1548	c.1431T>C	c.(1429-1431)agT>agC	p.S477S	ZNF845_uc010ydw.1_Silent_p.S477S	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AGACCTTCAGTCAGACATCAT	0.383000														90			15		0	0	1	0	0
EIF3A	8661	broad.mit.edu	37	10	120830529	120830529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120830529G>A	uc001ldu.3	-	4	756	c.610C>T	c.(610-612)Cac>Tac	p.H204Y	EIF3A_uc010qsu.2_Missense_Mutation_p.H170Y	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	204					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TGCGATAAGTGCATTCTCAAA	0.398000														71			16		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187078767	187078767	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187078767C>T	uc003iyt.4	+	7	1202	c.623C>T	c.(622-624)cCg>cTg	p.P208L	FAM149A_uc011cla.1_Missense_Mutation_p.P208L|FAM149A_uc010isj.2_Missense_Mutation_p.P208L|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Missense_Mutation_p.P208L|FAM149A_uc011clb.2_Missense_Mutation_p.P208L	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	499										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AACAGATTTCCGCACGTCCTC	0.512000														152			24		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90504402	90504402	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90504402C>A	uc003pnn.1	-	2	564	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	MDN1_uc003pnp.1_Nonsense_Mutation_p.E150*	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	150					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGGCTGCTTCCATTAGGTCC	0.522000														104			27		1.5548e-18	1.87917e-18	1	1	0
RELN	5649	broad.mit.edu	37	7	103138682	103138682	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138682G>A	uc022ajr.1	-	53	8845	c.8685C>T	c.(8683-8685)cgC>cgT	p.R2895R	RELN_uc022ajq.1_Silent_p.R2895R|RELN_uc010liz.3_Silent_p.R2895R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGTCAAAGCGTTCCTTCA	0.373000														106			14		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46716542	46716542	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46716542C>T	uc001vaz.4	-	12	1513	c.1387G>A	c.(1387-1389)Gcg>Acg	p.A463T	LCP1_uc010ack.3_Missense_Mutation_p.A32T|LCP1_uc001vay.4_Missense_Mutation_p.A60T|LCP1_uc001vba.4_Missense_Mutation_p.A463T	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	463	Actin-binding 2.|CH 3.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		AATTCTACCGCGTAGTTACAA	0.388000			T	BCL6	NHL									96			30		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	149006811	149006811	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149006811G>A	uc003lra.1	+	10	1701	c.1637G>A	c.(1636-1638)gGc>gAc	p.G546D		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	546	SH3 1.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGCAACAGCGGCCGCTGGCTG	0.612000														198			37		0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130095372	130095372	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130095372C>A	uc010htj.1	+	2	854	c.360C>A	c.(358-360)acC>acA	p.T120T	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	120	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CTCATAGGACCTACTTCTCTG	0.512000														16			7		2.0095e-06	2.13635e-06	1	1	0
NRP1	8829	broad.mit.edu	37	10	33502412	33502412	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33502412G>A	uc001iwx.4	-	8	2039	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	NRP1_uc001iwv.4_Nonsense_Mutation_p.R506*|NRP1_uc001iwy.4_Nonsense_Mutation_p.R506*|NRP1_uc009xlz.3_Nonsense_Mutation_p.R506*|NRP1_uc001iww.4_Nonsense_Mutation_p.R325*|NRP1_uc001iwz.2_Nonsense_Mutation_p.R506*|NRP1_uc001ixa.2_Nonsense_Mutation_p.R506*|NRP1_uc001ixb.2_Nonsense_Mutation_p.R506*|NRP1_uc001ixc.1_Nonsense_Mutation_p.R506*	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	506	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTGTTCTCTCGGTGCTTCCCA	0.522000														302			65		0	0	1	0	0
PRMT3	10196	broad.mit.edu	37	11	20417453	20417453	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20417453G>A	uc001mqb.3	+	5	722	c.505G>A	c.(505-507)Gca>Aca	p.A169T	PRMT3_uc001mqc.3_Missense_Mutation_p.A92T|PRMT3_uc010rdn.2_Missense_Mutation_p.A107T	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	169							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						GGAAGCCAGGGCACTGTCTGC	0.398000														89			22		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1687462	1687462	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1687462C>A	uc002qxa.3	-	5	590	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	PXDN_uc002qxb.1_Missense_Mutation_p.G176W|PXDN_uc002qxc.1_5'UTR	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	176					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTAAATGTCCCTGGAACTAAA	0.308000														27			5		0.00198382	0.00202356	1	1	0
USP4	7375	broad.mit.edu	37	3	49332010	49332010	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49332010G>A	uc003cwq.2	-	13	1792	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S	USP4_uc003cwp.2_Silent_p.S301S|USP4_uc003cwr.2_Silent_p.S524S	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	571					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGCCATCCACGGAAGTGCTGC	0.537000														94			22		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22832722	22832722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22832722C>T	uc001bft.2	+	6	1859	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	ZBTB40_uc001bfu.2_Missense_Mutation_p.P450S|ZBTB40_uc009vqi.1_Missense_Mutation_p.P338S|ZBTB40_uc001bfv.1_Missense_Mutation_p.P79S	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	450					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGCCACTTTGCCAAGCACCAC	0.488000														90			8		0	0	1	0	0
ANKRD46	157567	broad.mit.edu	37	8	101541971	101541971	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101541971G>A	uc003yjo.1	-	3	400	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	ANKRD46_uc003yjm.3_Missense_Mutation_p.L31F|ANKRD46_uc003yjn.1_Missense_Mutation_p.L31F|ANKRD46_uc003yjp.1_Missense_Mutation_p.L31F	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	31						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CTTTCCAAAAGCCGCTTGGAA	0.458000														99			24		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605012	140605012	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140605012G>T	uc003ljb.3	+	0	1935	c.1935G>T	c.(1933-1935)aaG>aaT	p.K645N		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	645	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGTCAAGGACAATGGCG	0.721000														206			66		6.09464e-36	7.7247e-36	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220167053	220167053	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220167053G>A	uc002vkz.3	-	5	1041	c.800C>T	c.(799-801)cCt>cTt	p.P267L	PTPRN_uc010zlc.2_Missense_Mutation_p.P177L|PTPRN_uc002vla.3_Missense_Mutation_p.P267L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	267					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GGCAGGTGAAGGCCCTGGAAG	0.637000														72			19		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059273	13059273	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059273G>A	uc010xac.2	+	20	4530	c.4450G>A	c.(4450-4452)Gtc>Atc	p.V1484I	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.V1009I|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.V1225I	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1079								p.V888I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCAGCACCGTCACTCTCAC	0.458000														158			28		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2399065	2399065	+	Nonsense_Mutation	SNP	C	T	T	rs146863718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2399065C>T	uc010xgx.2	+	2	286	c.286C>T	c.(286-288)Cga>Tga	p.R96*	TMPRSS9_uc002lvv.1_Nonsense_Mutation_p.R130*	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	96					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCTGCTGCGACCCCTCCA	0.642000														48			9		0	0	1	0	0
CCNB2	9133	broad.mit.edu	37	15	59399591	59399591	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59399591G>A	uc002afz.3	+	1	279	c.95G>A	c.(94-96)cGa>cAa	p.R32Q		NM_004701	NP_004692	O95067	CCNB2_HUMAN	Homo sapiens cyclin B2 (CCNB2), mRNA.	32					G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						ACTATTAGGCGAACTGTTTTA	0.353000														63			18		0	0	1	0	0
CCNA1	8900	broad.mit.edu	37	13	37012230	37012230	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37012230C>A	uc001uvr.4	+	3	921	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	CCNA1_uc010teo.2_Missense_Mutation_p.L147I|CCNA1_uc010abq.3_Missense_Mutation_p.L147I|CCNA1_uc010abp.3_Missense_Mutation_p.L147I|CCNA1_uc001uvs.4_Missense_Mutation_p.L190I|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	191					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		AGATTCATCTCTCCTCTCCCA	0.393000														210			51		2.14674e-31	2.70749e-31	1	1	0
SRRM1	10250	broad.mit.edu	37	1	24993313	24993313	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24993313C>T	uc001bjm.3	+	12	1860	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SRRM1_uc010oel.2_Missense_Mutation_p.R558W|SRRM1_uc009vrh.1_Missense_Mutation_p.R519W|SRRM1_uc009vri.1_Missense_Mutation_p.R475W|SRRM1_uc010oem.1_Non-coding_Transcript	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	546	Arg-rich.|Necessary for speckles and matrix localization.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TAGTGGTAGACGGAGGAGAAG	0.547000														77			15		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140109118	140109118	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140109118C>A	uc004clx.3	+	6	930	c.819C>A	c.(817-819)ctC>ctA	p.L273L	NDOR1_uc004clw.3_Silent_p.L273L|NDOR1_uc011mes.2_Silent_p.L273L|NDOR1_uc004cly.3_Silent_p.L239L	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	273	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTGACCAGCTCTTCATGCTGC	0.682000														117			34		1.836e-18	2.21806e-18	1	1	0
SLC38A10	124565	broad.mit.edu	37	17	79219815	79219815	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79219815G>A	uc002jzz.1	-	15	3276	c.2901C>T	c.(2899-2901)ggC>ggT	p.G967G	SLC38A10_uc002jzy.1_Silent_p.G885G|SLC38A10_uc021uey.1_Silent_p.G42G	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	967					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CACCCTGCTCGCCATCAGAGA	0.687000														144			39		0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936291	4936291	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936291A>G	uc002gap.4	-	4	2021	c.1308T>C	c.(1306-1308)ttT>ttC	p.F436F	SLC52A1_uc002gao.4_Silent_p.F436F|SLC52A1_uc010ckw.3_Silent_p.F314F|SLC52A1_uc010ckx.3_3'UTR	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	436						integral to plasma membrane	receptor activity|riboflavin transporter activity										TTCTGCTTTGAAACACGTGGT	0.632000														88			27		0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74418390	74418390	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:74418390G>T	uc003dpm.1	-	6	976	c.896C>A	c.(895-897)gCt>gAt	p.A299D		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	299	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGAATTCTCAGCAATGCATTC	0.428000														57			9		1.12685e-05	1.18529e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179516866	179516866	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179516866C>T	uc021vsy.1	-	157	32175	c.31950G>A	c.(31948-31950)gtG>gtA	p.V10650V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11577	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCTTCAGGCACCTTCTTTT	0.348000														185			48		0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133844298	133844298	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133844298A>G	uc011ecs.2	+	17	2055	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	EYA4_uc011ecq.2_Missense_Mutation_p.Y520C|EYA4_uc011ecr.2_Missense_Mutation_p.Y526C|EYA4_uc003qec.4_Missense_Mutation_p.Y574C|EYA4_uc003qed.4_Missense_Mutation_p.Y574C|EYA4_uc003qee.4_Missense_Mutation_p.Y551C|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	574					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GAGAATATTTACAGTGCAACT	0.388000														100			26		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184045152	184045152	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184045152C>T	uc003fnp.3	+	23	3848	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	EIF4G1_uc010hxx.3_Missense_Mutation_p.R1200W|EIF4G1_uc003fnt.3_Missense_Mutation_p.R904W|EIF4G1_uc010hxy.3_Missense_Mutation_p.R1200W|EIF4G1_uc003fnq.3_Missense_Mutation_p.R1106W|EIF4G1_uc003fnr.3_Missense_Mutation_p.R1029W|EIF4G1_uc003fns.3_Missense_Mutation_p.R1153W|EIF4G1_uc003fnv.4_Missense_Mutation_p.R1194W|EIF4G1_uc003fnw.3_Missense_Mutation_p.R1200W|EIF4G1_uc003fnx.3_Missense_Mutation_p.R998W	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1193					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTGGAGGAGCGGAGTAGAGA	0.672000														158			30		0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324728	86324728	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86324728C>A	uc003pla.2	-	10	2159	c.1618G>T	c.(1618-1620)Gga>Tga	p.G540*	SYNCRIP_uc003pku.3_Nonsense_Mutation_p.G540*|SYNCRIP_uc003pkv.3_Nonsense_Mutation_p.G540*|SYNCRIP_uc003pkw.3_Nonsense_Mutation_p.G505*|SYNCRIP_uc003pkx.3_Nonsense_Mutation_p.G388*|SYNCRIP_uc003pky.3_Nonsense_Mutation_p.G442*|SYNCRIP_uc003pkz.2_Nonsense_Mutation_p.G505*	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	540	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.|Interaction with SMN.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		TGGGCACCTCCTCTCGCACCT	0.622000														444			102		3.88716e-44	4.95077e-44	1	1	0
BEST1	7439	broad.mit.edu	37	11	61727416	61727416	+	Missense_Mutation	SNP	C	T	T	rs148326372		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61727416C>T	uc001nsr.2	+	7	1393	c.821C>T	c.(820-822)cCg>cTg	p.P274L	BEST1_uc010rlq.1_Missense_Mutation_p.R342W|BEST1_uc010rlr.1_Intron|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Missense_Mutation_p.P334L|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Missense_Mutation_p.P274L|BEST1_uc001nst.3_Missense_Mutation_p.P247L|BEST1_uc010rlu.1_Missense_Mutation_p.R296W|BEST1_uc010rlv.2_Missense_Mutation_p.P228L	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	334					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGGATGGAGCCGGACATGTAC	0.587000														43			10		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130497140	130497140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130497140C>T	uc003qbw.3	-	7	996	c.668G>A	c.(667-669)cGa>cAa	p.R223Q	SAMD3_uc003qbx.3_Missense_Mutation_p.R223Q|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	223										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TTTGAGGGCTCGTTTCCATAA	0.348000														73			26		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31208047	31208047	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31208047C>A	uc001bsc.2	-	6	763	c.672G>T	c.(670-672)gaG>gaT	p.E224D		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	224					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		AGTTTCTCTTCTCCTCCACCG	0.537000														293			25		3.28513e-13	3.82035e-13	1	1	0
CLDN3	1365	broad.mit.edu	37	7	73183818	73183818	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73183818C>T	uc003tzg.4	-	0	783	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	188					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				TACTTCTTCTCGCGTGGGGGA	0.716000														121			18		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082017	140082017	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140082017G>A	uc004clr.1	-	1	729	c.656C>T	c.(655-657)cCg>cTg	p.P219L	ANAPC2_uc004clq.1_Missense_Mutation_p.P78L|ANAPC2_uc011mer.1_Missense_Mutation_p.P219L|SSNA1_uc004cls.2_5'Flank	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCACACAGCGGGCTCTGCAG	0.627000														223			43		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44611245	44611245	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44611245G>T	uc003tlg.3	-	5	1379	c.736C>A	c.(736-738)Ctc>Atc	p.L246I	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.L246I|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	246	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TACAGCAGGAGGAATTTGTCT	0.527000														120			30		2.49675e-24	3.10231e-24	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52384855	52384855	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52384855C>T	uc003xqu.4	-	7	805	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	235	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.Y235*(1)		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)				AAAAGTAATTCGGGGGCTCTC	0.413000														98			18		0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56206203	56206203	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56206203C>T	uc002qlw.3	+	9	1718	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	EPN1_uc002qlv.3_Missense_Mutation_p.A433V|EPN1_uc010etd.3_Missense_Mutation_p.A458V|EPN1_uc002qlx.3_Missense_Mutation_p.A545V	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	459	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	p.P459L(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CCACCTGCAGCCACACCAACT	0.701000														43			12		0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46812850	46812850	+	Silent	SNP	C	T	T	rs142473333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46812850C>T	uc002ldi.1	-	8	1265	c.900G>A	c.(898-900)gcG>gcA	p.A300A	DYM_uc010xdf.1_Silent_p.A110A|DYM_uc002ldj.3_Silent_p.A122A	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						AGGGGTTTGGCGCATCTGAGG	0.483000														174			49		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	132891434	132891434	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:132891434T>G	uc001lkp.3	-	11	1838	c.1752A>C	c.(1750-1752)aaA>aaC	p.K584N		NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	584										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTCATCTCATTTTCCGCAGCC	0.512000														108			20		0	0	1	0	0
CYP1B1	1545	broad.mit.edu	37	2	38298319	38298319	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298319C>A	uc002rqo.2	-	2	1580	c.1178G>T	c.(1177-1179)aGc>aTc	p.S393I		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	393					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	AGGCACAAAGCTGGAGAAGCG	0.547000														81			31		1.62565e-12	1.87665e-12	1	1	0
SLFN5	162394	broad.mit.edu	37	17	33592666	33592666	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33592666G>T	uc002hjf.4	+	4	2552	c.2435G>T	c.(2434-2436)aGg>aTg	p.R812M	SLFN5_uc010wcg.2_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	812					cell differentiation		ATP binding	p.M811I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ACAGCAATGAGGAAGAGAAAA	0.433000														110			15		4.14922e-12	4.76557e-12	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34269619	34269619	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269619C>T	uc001wru.3	+	11	2170	c.2106C>T	c.(2104-2106)ggC>ggT	p.G702G	NPAS3_uc001wrs.3_Silent_p.G689G|NPAS3_uc001wrv.3_Silent_p.G672G|NPAS3_uc001wrt.3_Silent_p.G670G	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	702	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GTGGGGGTGGCGGTGGCGGGG	0.741000														72			24		0	0	1	0	0
SLC22A20	440044	broad.mit.edu	37	11	64981653	64981653	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64981653G>A	uc021qlg.1	+	0	343	c.310G>A	c.(310-312)Gcg>Acg	p.A104T	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	102					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CATCCCGGGCGCGGCCACGGA	0.682000														24			7		0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103288009	103288009	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103288009C>A	uc001vpi.4	+	11	1569	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	489					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAGTGAAGGCTGACAATATA	0.333000														84			18		5.03518e-11	5.70985e-11	1	1	0
EXOSC9	5393	broad.mit.edu	37	4	122732759	122732759	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122732759G>A	uc003iea.3	+	7	868	c.760G>A	c.(760-762)Gct>Act	p.A254T	EXOSC9_uc003idz.3_Missense_Mutation_p.A254T|EXOSC9_uc003ieb.3_Missense_Mutation_p.A238T|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	254	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CAGTAAAATCGCTGGTGTGAA	0.308000														23			3		0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044072	179044072	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044072C>T	uc021yjd.1	-	8	1128	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	HNRNPH1_uc011dgn.2_Missense_Mutation_p.G96E|HNRNPH1_uc003mkf.4_Missense_Mutation_p.G366E|HNRNPH1_uc003mkg.4_Missense_Mutation_p.G274E|HNRNPH1_uc003mke.4_Missense_Mutation_p.G366E|HNRNPH1_uc003mkh.4_Missense_Mutation_p.G366E	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	366	2 X 16 AA Gly-rich approximate repeats.|2 X 19 AA perfect repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						ACCGCTTGCTCCTGCTGTAGA	0.363000														128			37		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187088339	187088339	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187088339C>T	uc003iyt.4	+	12	1877	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	FAM149A_uc011cla.1_Missense_Mutation_p.S433L|FAM149A_uc010isl.3_Missense_Mutation_p.S433L|FAM149A_uc011clb.2_Splice_Site_p.S432_splice	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	724										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		TTCCAGCAGTCGGATACGCCT	0.378000														121			41		0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	440898	440898	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:440898C>T	uc002loq.4	-	1	503	c.503G>A	c.(502-504)cGc>cAc	p.R168H		NM_012435	NP_036567	P98077	SHC2_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 2 (SHC2), mRNA.	168	PID.				Ras protein signal transduction|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCAGGGAGCGCATAGAGCG	0.637000														213			55		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59814285	59814285	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59814285C>T	uc001xdz.1	+	17	2259	c.2134C>T	c.(2134-2136)Cgg>Tgg	p.R712W	DAAM1_uc001xea.1_Missense_Mutation_p.R702W	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	712	FH2.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CGAAATCAAACGGGCAATTCT	0.373000														53			7		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140330977	140330977	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140330977A>G	uc004cmw.3	-	5	966	c.782T>C	c.(781-783)gTa>gCa	p.V261A	ENTPD8_uc004cmx.3_Missense_Mutation_p.V261A|ENTPD8_uc004cmy.2_Splice_Site	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	261						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCTGACCTGTACCAGCCCCAC	0.662000														11			6		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120343820	120343820	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120343820A>C	uc001pxl.2	+	30	3352	c.3017A>C	c.(3016-3018)aAt>aCt	p.N1006T	ARHGEF12_uc009zat.3_Missense_Mutation_p.N987T|ARHGEF12_uc010rzn.1_Missense_Mutation_p.N903T|ARHGEF12_uc009zau.1_Missense_Mutation_p.N903T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1006					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GAGTACCCAAATGTTGAAGAG	0.408000			T	MLL	AML									291			26		0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43213012	43213012	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213012C>A	uc001chx.4	-	13	2099	c.1986G>T	c.(1984-1986)aaG>aaT	p.K662N	LEPRE1_uc001chw.2_Missense_Mutation_p.K662N|LEPRE1_uc001chv.2_Missense_Mutation_p.K662N	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	662	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTGACAGCCTTCACTCCAT	0.627000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		151			18		8.10497e-08	8.79904e-08	1	1	0
EML5	161436	broad.mit.edu	37	14	89083140	89083140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89083140C>T	uc021ryf.1	-	40	5975	c.5726G>A	c.(5725-5727)gGa>gAa	p.G1909E	EML5_uc001xxf.3_Missense_Mutation_p.G696E|EML5_uc021ryg.1_Missense_Mutation_p.G1909E|EML5_uc001xxd.3_Missense_Mutation_p.G74E|EML5_uc001xxe.3_Missense_Mutation_p.G258E	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1901						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGACTGATTCCTGAATGAGA	0.393000														67			14		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412738	126412738	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412738C>A	uc003ifj.4	+	16	14761	c.14761C>A	c.(14761-14763)Cta>Ata	p.L4921I	FAT4_uc011cgp.2_Missense_Mutation_p.L3162I|FAT4_uc003ifi.1_Missense_Mutation_p.L2398I	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4921					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCATGAAGCTAGGGCAGCA	0.557000														109			26		3.28513e-13	3.82035e-13	1	1	0
DHX34	9704	broad.mit.edu	37	19	47870358	47870358	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47870358G>A	uc010xyn.2	+	6	2063	c.1714G>A	c.(1714-1716)Gcc>Acc	p.A572T	DHX34_uc010elc.1_Missense_Mutation_p.A487T	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	572						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CAGCTCAGAGGCCCTCACACC	0.667000														81			22		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47582460	47582460	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47582460T>C	uc002xtx.4	+	7	1111	c.959T>C	c.(958-960)cTg>cCg	p.L320P		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	320					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CTAGGTGAACTGGAGTGCCAG	0.468000														111			33		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859759	131859759	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131859759G>A	uc003ytd.4	-	11	2669	c.2413_splice	c.e11-1	p.L805_splice	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	805					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACACCACAGCTGCGGATTa	0.388000										HNSCC(32;0.087)				19			5		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6467822	6467822	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6467822G>A	uc002mfe.3	-	22	2191	c.2099C>T	c.(2098-2100)aCt>aTt	p.T700I	DENND1C_uc002mfb.3_Missense_Mutation_p.T250I|DENND1C_uc002mfc.3_Missense_Mutation_p.T250I|DENND1C_uc002mfd.3_Missense_Mutation_p.T250I|DENND1C_uc010xje.2_Missense_Mutation_p.T656I	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	700						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GAGCCAGGGAGTGGGGTTTTC	0.582000														29			11		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107160956	107160956	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107160956C>T	uc004enl.3	+	6	1995	c.1422C>T	c.(1420-1422)gcC>gcT	p.A474A	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	474	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CAAGATTGGCCGGGGCGCCAC	0.483000														128			33		0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292613	6292613	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6292613G>A	uc001mcp.3	+	4	1439	c.1184G>A	c.(1183-1185)cGt>cAt	p.R395H	CCKBR_uc001mcq.3_Missense_Mutation_p.R323H|CCKBR_uc001mcr.3_Intron|CCKBR_uc001mcs.3_Missense_Mutation_p.R464H	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	395					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.R395C(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCATGCACCGTCGCTTTCGC	0.647000														286			32		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152462355	152462355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152462355G>A	uc021zhb.1	-	136	25452	c.25229C>T	c.(25228-25230)aCc>aTc	p.T8410I	SYNE1_uc003qos.4_Missense_Mutation_p.T2934I|SYNE1_uc003qot.4_Missense_Mutation_p.T8362I|SYNE1_uc003qou.4_Missense_Mutation_p.T8410I|SYNE1_uc011eez.2_Missense_Mutation_p.T612I|SYNE1_uc003qoq.4_Missense_Mutation_p.T612I|SYNE1_uc003qor.4_Missense_Mutation_p.T1333I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8410					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.T8410T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTGGGTTTCGGTACTATGCAG	0.483000										HNSCC(10;0.0054)				162			30		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559429	228559429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559429C>T	uc009xez.1	+	93	20994	c.20950C>T	c.(20950-20952)Cga>Tga	p.R6984*	OBSCN_uc001hsr.1_Nonsense_Mutation_p.R1613*	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6984	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGAGGCACAGCGACTGCCTTC	0.697000														114			23		0	0	1	0	0
WFDC3	140686	broad.mit.edu	37	20	44405742	44405742	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44405742G>A	uc002xpf.1	-	4	549	c.465C>T	c.(463-465)ggC>ggT	p.G155G	WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Intron|WFDC3_uc010ghh.1_Intron|RNU6ATAC_uc021wel.1_5'Flank	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	155	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGCAGGTGCGGCCACAGCCGG	0.562000														78			23		0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11142806	11142806	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11142806G>T	uc001asa.3	-	9	1269	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	EXOSC10_uc001asb.3_Missense_Mutation_p.L407M|EXOSC10_uc009vmy.1_Missense_Mutation_p.L407M	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	407					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TAGAGTTTCAGGAGATGATCG	0.463000														212			25		2.41591e-17	2.89771e-17	1	1	0
ZNF773	374928	broad.mit.edu	37	19	58018058	58018058	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58018058G>A	uc002qox.3	+	3	735	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	ZNF773_uc002qoy.3_Missense_Mutation_p.A198T|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		ATGTGGGAAAGCCTTTGGTCA	0.453000														78			18		0	0	1	0	0
CTSB	1508	broad.mit.edu	37	8	11706619	11706619	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11706619G>A	uc003wuq.3	-	4	544	c.382C>T	c.(382-384)Cac>Tac	p.H128Y	CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.H49Y|CTSB_uc003wum.3_Missense_Mutation_p.H128Y|CTSB_uc003wun.3_Missense_Mutation_p.H128Y|CTSB_uc003wuo.3_Missense_Mutation_p.H128Y|CTSB_uc003wup.3_Missense_Mutation_p.H128Y|CTSB_uc003wuu.3_5'UTR	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	128					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ACGCTGACGTGCGCATTGGTG	0.647000														81			18		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71883410	71883410	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71883410G>T	uc010fen.3	+	42	4886	c.4745G>T	c.(4744-4746)gGt>gTt	p.G1582V	DYSF_uc010fei.3_Missense_Mutation_p.G1560V|DYSF_uc010feh.3_Missense_Mutation_p.G1550V|DYSF_uc002sig.4_Missense_Mutation_p.G1529V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.G1574V|DYSF_uc010fee.3_Missense_Mutation_p.G1564V|DYSF_uc010fef.3_Missense_Mutation_p.G1581V|DYSF_uc002sie.3_Missense_Mutation_p.G1543V|DYSF_uc010feo.3_Missense_Mutation_p.G1575V|DYSF_uc010fej.3_Missense_Mutation_p.G1551V|DYSF_uc010fel.3_Missense_Mutation_p.G1530V|DYSF_uc010fem.3_Missense_Mutation_p.G1565V|DYSF_uc002sif.3_Missense_Mutation_p.G1544V|DYSF_uc010fek.3_Missense_Mutation_p.G1561V|DYSF_uc010yqy.2_Missense_Mutation_p.G424V|DYSF_uc010yqz.2_Missense_Mutation_p.G304V	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1543	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.I1582V(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGTGATTGGTGAATTTAAG	0.517000														411			141		1.55268e-80	1.98473e-80	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71068359	71068359	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71068359A>G	uc003xyn.1	-	10	2403	c.2241T>C	c.(2239-2241)taT>taC	p.Y747Y		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	747					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TATCTAGCAAATAGCGAAGTA	0.438000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									120			23		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279918	18279918	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18279918C>A	uc002nia.1	+	15	2513	c.2001C>A	c.(1999-2001)caC>caA	p.H667Q	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	667	SH2 2.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						ACACCAAGCACTGCGTCATCT	0.682000														143			14		6.72482e-11	7.60803e-11	1	1	0
SUPT5H	6829	broad.mit.edu	37	19	39964966	39964966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39964966C>T	uc002olo.4	+	26	2923	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	SUPT5H_uc002olp.4_Missense_Mutation_p.A915V|SUPT5H_uc002olq.4_Missense_Mutation_p.A911V|SUPT5H_uc002oln.4_Missense_Mutation_p.A915V|SUPT5H_uc002olr.4_Missense_Mutation_p.A915V|SUPT5H_uc002ols.1_Missense_Mutation_p.A538V	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	915	10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|Pro-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CACCAGGTGGCGCCAAGCCCA	0.632000											OREG0025462	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			23		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154172210	154172210	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154172210G>A	uc003lvo.3	+	3	386	c.362G>A	c.(361-363)cGt>cAt	p.R121H	LARP1_uc021ygh.1_5'UTR|LARP1_uc021ygi.1_Missense_Mutation_p.R198H|LARP1_uc010jie.1_5'UTR	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	198							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCCTACCCGTAAACTGCCA	0.498000														220			48		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39826575	39826575	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826575C>A	uc021olw.1	+	11	7675	c.7675C>A	c.(7675-7677)Ctg>Atg	p.L2559M	MACF1_uc021ols.1_Missense_Mutation_p.L2057M|MACF1_uc001cdc.2_Missense_Mutation_p.L2057M|MACF1_uc021olt.1_Missense_Mutation_p.L2057M|MACF1_uc001cda.1_Missense_Mutation_p.L1965M|MACF1_uc001cdb.1_Missense_Mutation_p.L1144M	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4124					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCTGGAGAGCCTGTTGCAGTC	0.507000														65			5		0.000602214	0.000618135	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123258084	123258084	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258084C>A	uc003ieh.3	+	68	12104	c.12059C>A	c.(12058-12060)cCt>cAt	p.P4020H	KIAA1109_uc003iem.3_Missense_Mutation_p.P376H|KIAA1109_uc003ien.3_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4020					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						ATACCAGATCCTATGGAAGAA	0.358000														99			7		0.000157383	0.000162836	1	1	0
NMT1	4836	broad.mit.edu	37	17	43181223	43181223	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43181223C>T	uc002ihz.3	+	9	1329	c.1311C>T	c.(1309-1311)gaC>gaT	p.D437D	NMT1_uc010dad.1_Silent_p.D97D	NM_021079	NP_066565	P30419	NMT1_HUMAN	Homo sapiens N-myristoyltransferase 1 (NMT1), mRNA.	437					N-terminal protein myristoylation|activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCATGAGCGACGCCCTTGTCC	0.567000														383			81		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65112092	65112092	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65112092C>A	uc002ant.2	-	7	1353	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	PIF1_uc002anr.2_5'UTR|PIF1_uc002ans.2_Missense_Mutation_p.Q120H|PIF1_uc010uiq.1_Missense_Mutation_p.Q429H	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	429	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCACATCATCCTGGTGGGTGC	0.617000														179			13		0.000151284	0.000156809	1	1	0
JAK3	3718	broad.mit.edu	37	19	17943451	17943451	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17943451C>T	uc002nhn.4	-	18	2657	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.A853T	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	853	Protein kinase 2.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A853A(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGTTTCACGGCCACCAGGGCA	0.582000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									200			59		0	0	1	0	0
ELAC2	60528	broad.mit.edu	37	17	12909125	12909125	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12909125G>T	uc002gnz.4	-	9	932	c.815C>A	c.(814-816)gCt>gAt	p.A272D	ELAC2_uc002gnv.4_5'Flank|ELAC2_uc002gnx.4_Missense_Mutation_p.A32D|ELAC2_uc010vvo.2_Missense_Mutation_p.A95D|ELAC2_uc010vvp.2_Missense_Mutation_p.A253D|ELAC2_uc010vvq.2_Missense_Mutation_p.A272D|ELAC2_uc010vvr.2_Missense_Mutation_p.A232D	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	272					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AATGATGGGAGCGATGGCAGC	0.502000														143			33		6.00712e-18	7.23423e-18	1	1	0
GABRB2	2561	broad.mit.edu	37	5	160721349	160721349	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160721349G>A	uc003lys.1	-	10	1496	c.1278C>T	c.(1276-1278)gaC>gaT	p.D426D	GABRB2_uc011deh.1_Silent_p.D227D|GABRB2_uc003lyr.1_Silent_p.D388D|GABRB2_uc003lyt.1_Silent_p.D388D	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	426					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TGCTTCTGGGGTCTCCAAGTC	0.507000														127			41		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131908351	131908351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131908351G>A	uc003vra.4	-	8	2261	c.2032C>T	c.(2032-2034)Cgg>Tgg	p.R678W		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	678	PSI 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGACATGCCGGTATTTACAC	0.592000														36			8		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850696	71850696	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850696G>A	uc001ory.1	+	4	735	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	FOLR3_uc001orx.1_Missense_Mutation_p.A186T			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	185					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	CACTCCAGCCGCCCTTTGTGA	0.587000														138			32		0	0	1	0	0
PDE3B	5140	broad.mit.edu	37	11	14880590	14880590	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14880590C>T	uc001mln.3	+	13	2874	c.2521_splice	c.e13-1	p.A841_splice	PDE3B_uc010rcr.2_Splice_Site_p.A790_splice	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	841	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	Golgi apparatus|cytosol|endoplasmic reticulum|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTTTTTAGGCAGTTTTATAC	0.333000														61			19		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48806314	48806314	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48806314C>T	uc002pir.2	-	8	1599	c.916G>A	c.(916-918)Gag>Aag	p.E306K	CCDC114_uc002piq.2_Missense_Mutation_p.E115K|CCDC114_uc002pio.3_Missense_Mutation_p.E343K|CCDC114_uc002pis.1_5'UTR|CCDC114_uc002pit.1_Missense_Mutation_p.E343K	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	306										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AAGTTCTGCTCGTTGATGAAG	0.592000														133			25		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83362285	83362285	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83362285G>A	uc003kio.1	-	6	1211	c.792C>T	c.(790-792)ggC>ggT	p.G264G	EDIL3_uc003kip.1_Silent_p.G254G|EDIL3_uc011ctt.1_Silent_p.G41G	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	264	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CTTCATTGGTGCCTTTCACTT	0.348000														41			10		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215928871	215928871	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215928871C>A	uc002vew.3	-	2	455	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	79					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)		CATTTAGAGTCTGTGTCACAG	0.433000														169			30		7.11191e-15	8.38269e-15	1	1	0
EED	8726	broad.mit.edu	37	11	85967452	85967452	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85967452T>C	uc001pbp.3	+	4	916	c.450T>C	c.(448-450)tgT>tgC	p.C150C	EED_uc010rtm.2_Silent_p.C150C|EED_uc001pbq.3_Silent_p.C150C|EED_uc001pbr.3_Silent_p.C150C|EED_uc010rtn.1_5'Flank	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	150	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				TTTACACTTGTGCATGGACCT	0.323000														54			21		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27420622	27420622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27420622C>T	uc003njj.3	-	4	1527	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ZNF184_uc010jqv.3_Missense_Mutation_p.R239H|ZNF184_uc003nji.3_Missense_Mutation_p.R239H	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCTGATGGCGAATAAGAGC	0.353000														181			46		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814750	137814750	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814750G>A	uc003qhp.1	-	0	782	c.558C>T	c.(556-558)ggC>ggT	p.G186G		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGAGCGCGCCGCCCAAGATGG	0.726000														74			9		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408180	197408180	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408180G>A	uc003fyc.2	-	15	2433	c.2250C>T	c.(2248-2250)tgC>tgT	p.C750C	KIAA0226_uc003fyd.3_Silent_p.C705C|KIAA0226_uc003fye.1_Silent_p.C482C	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	750					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	p.C750*(2)|p.C705*(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CATTCTCGTGGCAGCACTGGC	0.527000														173			42		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29674083	29674083	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29674083T>G	uc003aet.3	+	4	619	c.291T>G	c.(289-291)gcT>gcG	p.A97A	EWSR1_uc003aes.4_Silent_p.A97A|EWSR1_uc003aev.3_Silent_p.A103A|EWSR1_uc003aex.3_Silent_p.A97A|EWSR1_uc003aew.3_Silent_p.A97A|EWSR1_uc003aey.3_5'UTR	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	97	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCACTGGTGCTTATGATACCA	0.552000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									71			19		0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28897207	28897207	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28897207A>G	uc001iuf.3	+	7	1100	c.1012A>G	c.(1012-1014)Aca>Gca	p.T338A	WAC_uc001iud.3_Missense_Mutation_p.T293A|WAC_uc001iue.3_Intron|WAC_uc009xlb.3_Missense_Mutation_p.T293A|WAC_uc001iug.3_Missense_Mutation_p.T235A|WAC_uc001iuh.3_Missense_Mutation_p.T293A	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN	Homo sapiens WW domain containing adaptor with coiled-coil (WAC), transcript variant 1, mRNA.	338					cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	RNA polymerase II core binding|chromatin binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TGCACCTCCAACATCTGCTTC	0.478000														131			17		0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040262	24040262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24040262C>T	uc001wkq.2	-	5	2596	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Missense_Mutation_p.A225T|JPH4_uc001wkr.2_Missense_Mutation_p.A560T	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	560					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TCCGTGCCTGCTGGGGCCCTC	0.677000														216			55		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78583834	78583834	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78583834C>A	uc001syp.3	+	33	6299	c.6126C>A	c.(6124-6126)taC>taA	p.Y2042*	NAV3_uc001syo.3_Nonsense_Mutation_p.Y2020*|NAV3_uc010sub.2_Nonsense_Mutation_p.Y1499*|NAV3_uc009zsf.3_Nonsense_Mutation_p.Y851*	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2042						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCAAAGGTACTTTAACTTGT	0.358000										HNSCC(70;0.22)				97			12		9.31168e-06	9.81217e-06	1	1	0
CIB2	10518	broad.mit.edu	37	15	78398138	78398138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398138C>T	uc010ums.1	-	4	806	c.485G>A	c.(484-486)gGc>gAc	p.G162D	CIB2_uc002bdb.1_Missense_Mutation_p.G162D|CIB2_uc002bdc.1_Missense_Mutation_p.G119D	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	162	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GCCCAGCTTGCCGTCACCGTC	0.617000														133			34		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230480	147230480	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147230480G>T	uc021ovl.1	-	0	867	c.867C>A	c.(865-867)tcC>tcA	p.S289S	GJA5_uc001eps.1_Silent_p.S289S|GJA5_uc001ept.1_Silent_p.S289S	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	289					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.S289S(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TGTTTTGTTGGGAGGCCATAT	0.532000														205			61		1.53122e-18	1.8517e-18	1	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12884806	12884806	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12884806G>A	uc001auk.2	-	3	1501	c.1305C>T	c.(1303-1305)tgC>tgT	p.C435C		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	435										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCATTCAACAGCAGTATTGAT	0.473000														207			29		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145147139	145147139	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145147139T>C	uc002tvu.3	-	9	4046	c.3524A>G	c.(3523-3525)gAt>gGt	p.D1175G	ZEB2_uc010zbm.2_Missense_Mutation_p.D1151G|ZEB2_uc002tvv.3_Missense_Mutation_p.D1169G|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1175	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1174T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CGTTTCGGGATCCGTATCCAT	0.493000														368			36		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113502905	113502905	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113502905G>T	uc003iau.3	-	15	4563	c.4352C>A	c.(4351-4353)aCt>aAt	p.T1451N	C4orf21_uc003iav.3_Non-coding_Transcript	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGGATTTACAGTAGTAAACTT	0.289000														28			10		0.000442599	0.000455268	1	1	0
ANAPC1	64682	broad.mit.edu	37	2	112601003	112601003	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112601003C>T	uc002thi.3	-	16	2273	c.2026G>A	c.(2026-2028)Gca>Aca	p.A676T		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	676					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTAGTCCATGCTAAGCGGTCT	0.353000														62			8		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548627	50548627	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50548627G>A	uc002prn.3	+	4	1164	c.927G>A	c.(925-927)gaG>gaA	p.E309E	ZNF473_uc002prm.3_Silent_p.E309E|ZNF473_uc010ybo.2_Silent_p.E297E	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	309			E -> G (in dbSNP:rs16981706).		histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGCCTGGTGAGCATCAGAAAA	0.473000														187			43		0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75277367	75277367	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75277367C>T	uc001juo.3	-	17	2834	c.2817G>A	c.(2815-2817)gaG>gaA	p.E939E	USP54_uc010qkk.2_Silent_p.E121E|USP54_uc001juk.3_Silent_p.E27E|USP54_uc001jul.3_Silent_p.E27E|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.	939					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)					GGGCAGATGACTCTGGAGATA	0.517000														78			24		0	0	1	0	0
KCTD12	115207	broad.mit.edu	37	13	77459400	77459400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77459400C>T	uc001vka.1	-	0	1141	c.884G>A	c.(883-885)aGc>aAc	p.S295N	KCTD12_uc010aeu.1_Missense_Mutation_p.S295N	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.	295						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		GCCCGTGGAGCTGCACGCCAC	0.622000											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			10		0	0	1	0	0
TCTEX1D1	200132	broad.mit.edu	37	1	67236111	67236111	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67236111G>A	uc001dcv.3	+	2	292	c.161G>A	c.(160-162)cGt>cAt	p.R54H	TCTEX1D1_uc009wau.3_Non-coding_Transcript|TCTEX1D1_uc009wav.3_Non-coding_Transcript	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN	Homo sapiens Tctex1 domain containing 1 (TCTEX1D1), mRNA.	54										large_intestine(2)|lung(10)|skin(1)	13						CCCAGTCAGCGTGATGATATC	0.333000														135			40		0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	A	A	rs143171709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4722727G>A	uc001qmx.3	+	12	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	DYRK4_uc001qmy.2_Silent_p.T456T|DYRK4_uc021qtq.1_Silent_p.T311T|DYRK4_uc001qmz.2_Silent_p.T170T|DYRK4_uc001qna.2_Silent_p.T93T|DYRK4_uc010ser.2_Silent_p.T94T	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	457						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473000														97			11		0	0	1	0	0
SCP2	6342	broad.mit.edu	37	1	53443951	53443951	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53443951G>A	uc001cur.2	+	8	905	c.737G>A	c.(736-738)gGc>gAc	p.G246D	SCP2_uc010ono.2_Missense_Mutation_p.G165D|SCP2_uc010onp.2_Missense_Mutation_p.G222D|SCP2_uc009vzi.2_Missense_Mutation_p.G202D|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.G202D	NM_002979	NP_001180546	P22307	NLTP_HUMAN	Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA.	246					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CAGAAGTATGGCCTGCAATCC	0.408000														54			6		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127456127	127456127	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127456127A>G	uc001liu.3	-	5	1384	c.1384T>C	c.(1384-1386)Tta>Cta	p.L462L		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	462	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAGTAAATTAACTTCTGTCTT	0.423000														64			19		0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26918763	26918763	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26918763G>A	uc002hbq.3	-	3	1482	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	464					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGTTTCTGGGTGAGGGACA	0.537000														162			43		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38530694	38530694	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38530694C>T	uc010ive.1	-	1	388	c.56G>A	c.(55-57)aGa>aAa	p.R19K	LIFR_uc003jli.2_Missense_Mutation_p.R19K	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	19					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.K18T(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					AGTCCTCATTCTTTTATTGTC	0.388000			T	PLAG1	salivary adenoma									135			10		0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189012679	189012679	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189012679C>T	uc011cle.1	-	7	1459	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	TRIML2_uc003izj.1_Missense_Mutation_p.E166K|TRIML2_uc003izk.1_Missense_Mutation_p.E146K|TRIML2_uc003izl.2_Missense_Mutation_p.E338K	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	338							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGGACATCTCGGTCACATTG	0.493000														184			54		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921612	60921612	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60921612C>T	uc002ycq.3	-	8	1299	c.1232G>A	c.(1231-1233)gGc>gAc	p.G411D	LAMA5_uc021wfw.1_Missense_Mutation_p.G411D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	411	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGGTAGAAGCCGGGCAGGCA	0.687000														27			3		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617836	37617836	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617836G>A	uc002yvg.3	+	18	3637	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T	DOPEY2_uc011aeb.2_Silent_p.T1135T|DOPEY2_uc002yvh.3_Silent_p.T37T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1186					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CGGACAAGACGCAGGCTTCTG	0.642000														101			26		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13325114	13325114	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13325114G>T	uc002mwy.3	-	39	6109	c.5873C>A	c.(5872-5874)gCc>gAc	p.A1958D	CACNA1A_uc002mwx.3_Missense_Mutation_p.A664D|CACNA1A_uc010dzc.2_Missense_Mutation_p.A1484D|CACNA1A_uc010xnd.2_Missense_Mutation_p.A1961D|CACNA1A_uc021ups.1_Missense_Mutation_p.A1958D|CACNA1A_uc010xne.2_Missense_Mutation_p.A1961D|CACNA1A_uc010dze.2_Missense_Mutation_p.A1958D|CACNA1A_uc021upt.1_Missense_Mutation_p.A1959D|CACNA1A_uc002mwv.3_Missense_Mutation_p.A475D	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1959					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)	GATCATCATGGCTGCGTAGAT	0.642000														62			9		0.000673444	0.000690401	1	1	0
MSH4	4438	broad.mit.edu	37	1	76343977	76343977	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76343977A>G	uc001dhd.2	+	10	1629	c.1514A>G	c.(1513-1515)tAc>tGc	p.Y505C		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	505					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAAGAACATACACAGAGATT	0.363000								Mismatch excision repair (MMR)						59			6		0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43067457	43067457	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43067457G>T	uc001zqo.2	-	12	2313	c.1874C>A	c.(1873-1875)cCt>cAt	p.P625H	TTBK2_uc010bcy.2_Missense_Mutation_p.P556H	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	625					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AGCAGTAGGAGGACCCTCTGC	0.483000														165			33		2.08457e-15	2.46654e-15	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56586899	56586899	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56586899G>A	uc010xeg.2	+	2	1577	c.1380G>A	c.(1378-1380)acG>acA	p.T460T	ZNF532_uc002lhp.3_Silent_p.T458T|ZNF532_uc002lho.3_Silent_p.T460T|ZNF532_uc002lhr.3_Silent_p.T458T|ZNF532_uc002lhs.3_Silent_p.T458T	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CTGTGAAGACGGCAGGATCCC	0.547000														100			16		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134942239	134942239	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134942239C>T	uc001llw.3	+	15	3064	c.3064C>T	c.(3064-3066)Ctc>Ttc	p.L1022F	GPR123_uc001llx.4_Missense_Mutation_p.L303F			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	303						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ACTCTTCGTGCTCATCCACCA	0.682000														92			22		0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80159511	80159511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80159511G>A	uc002kdx.1	-	1	347	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CCDC57_uc002kdz.1_Nonsense_Mutation_p.Q104*	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	Homo sapiens coiled-coil domain containing 57 (CCDC57), mRNA.	104										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GCTAGCGCCTGCCTCAGCTTA	0.662000														159			14		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269112	63269112	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269112G>A	uc001xfx.3	-	8	1808	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	KCNH5_uc001xfy.3_Missense_Mutation_p.A586V|KCNH5_uc001xfz.1_Missense_Mutation_p.A528V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	586					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAGCAGAGGGCATCCACACT	0.517000														120			22		0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1625590	1625590	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1625590C>T	uc002ltr.3	-	6	553	c.484G>A	c.(484-486)Gca>Aca	p.A162T	TCF3_uc002ltt.4_Missense_Mutation_p.A162T|TCF3_uc002ltq.3_Missense_Mutation_p.A111T|TCF3_uc002lts.1_Missense_Mutation_p.A78T	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	162					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	DNA binding|E-box binding|bHLH transcription factor binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCCGTCTGCCGCTCTCCGC	0.697000			T	"""PBX1, HLF, TFPT"""	pre B-ALL									38			12		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74620380	74620380	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74620380A>C	uc002lmi.3	+	13	2594	c.2396A>C	c.(2395-2397)gAg>gCg	p.E799A	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	799					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATGCAGGTGGAGATCGAGAGC	0.622000														262			49		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101782700	101782700	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101782700A>G	uc004azb.1	+	11	1883	c.1677A>G	c.(1675-1677)ggA>ggG	p.G559G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	559	Triple-helical region 1 (COL1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GAATGAAAGGACAGGCTGGGC	0.453000														71			16		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138291	103138291	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138291G>A	uc022ajr.1	-	54	9086	c.8926C>T	c.(8926-8928)Ctg>Ttg	p.L2976L	RELN_uc022ajq.1_Silent_p.L2976L|RELN_uc010liz.3_Silent_p.L2976L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2976					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGTCCAACAGCACGCCTTCC	0.527000														72			10		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43713271	43713271	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43713271C>T	uc001zrs.3	-	19	4335	c.4187G>A	c.(4186-4188)cGt>cAt	p.R1396H	TP53BP1_uc010udp.2_Missense_Mutation_p.R1396H|TP53BP1_uc001zrq.4_Missense_Mutation_p.R1401H|TP53BP1_uc001zrr.4_Missense_Mutation_p.R1401H|TP53BP1_uc010udq.1_Missense_Mutation_p.R1401H	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1396					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CCCACGCCCACGAGGCGTGAC	0.572000								Other conserved DNA damage response genes						240			59		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220347984	220347984	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220347984C>T	uc010fwg.3	+	29	5799	c.5799C>T	c.(5797-5799)ccC>ccT	p.P1933P		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1933					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AAGAGCTGCCCTCAGTGCCCC	0.662000														60			5		0	0	1	0	0
TGM2	7052	broad.mit.edu	37	20	36775176	36775176	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36775176C>T	uc002xhr.3	-	5	902	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TGM2_uc010zvx.2_Missense_Mutation_p.G187S|TGM2_uc010zvy.2_Missense_Mutation_p.G208S|TGM2_uc002xhs.1_Missense_Mutation_p.G244S|TGM2_uc002xht.3_Missense_Mutation_p.G268S|TGM2_uc002xhu.3_Missense_Mutation_p.G268S	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	268					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.H267H(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CGCTGGCAGCCGTGGTTCTTC	0.672000														111			8		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321938	233321938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321938G>A	uc002vst.4	+	4	631	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ALPI_uc002vsu.4_Missense_Mutation_p.R96H	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	185					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.R185C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACAGTGAACCGCAACTGGTAC	0.607000														251			62		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476826	42476826	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42476826G>A	uc002igw.2	-	7	2838	c.2619C>T	c.(2617-2619)agC>agT	p.S873S	GPATCH8_uc002igv.2_Silent_p.S795S|GPATCH8_uc010wiz.2_Silent_p.S795S	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	873	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		AGGCATCTGAGCTACTTGAGT	0.542000														218			49		0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884115	63884115	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884115C>T	uc021qks.1	+	0	376	c.376C>T	c.(376-378)Ccc>Tcc	p.P126S	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.P126S	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	98					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CATCAACCTGCCCCGCTCCCT	0.607000														104			21		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47297373	47297373	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47297373A>C	uc001vbk.3	+	16	2013	c.1777A>C	c.(1777-1779)Aga>Cga	p.R593R	LRCH1_uc001vbj.3_Silent_p.R558R|LRCH1_uc001vbl.4_Silent_p.R558R	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	558	CH.									breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AAGACCTCAGAGAAATTTGGA	0.383000														72			5		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80790046	80790046	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80790046G>T	uc002kga.3	-	1	596	c.285C>A	c.(283-285)ctC>ctA	p.L95L	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	95						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CGAAGGCAGAGAGTCCATTTG	0.567000														153			36		3.33393e-15	3.94119e-15	1	1	0
CHD5	26038	broad.mit.edu	37	1	6166503	6166503	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6166503C>T	uc001amb.2	-	39	5920	c.5809G>A	c.(5809-5811)Gga>Aga	p.G1937R	CHD5_uc001alz.2_Intron|CHD5_uc001ama.2_Intron	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1937					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACAATCCCTCCCGGTCCAGGG	0.657000														19			3		0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1264567	1264567	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1264567C>T	uc002fsj.3	-	3	549	c.397G>A	c.(397-399)Gca>Aca	p.A133T	YWHAE_uc002fsk.3_Missense_Mutation_p.A111T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Intron	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	133					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCAAATTCTGCCAGATACCTG	0.373000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome							127			37		0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41284339	41284339	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41284339A>G	uc001cgh.2	+	3	777	c.695A>G	c.(694-696)tAc>tGc	p.Y232C	KCNQ4_uc001cgi.2_Missense_Mutation_p.Y232C	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	232					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TCAGTGGTCTACGCGCATAGC	0.711000														39			10		0	0	1	0	0
CLRN3	119467	broad.mit.edu	37	10	129690991	129690991	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129690991A>T	uc001lka.1	-	0	221	c.58T>A	c.(58-60)Tcc>Acc	p.S20T		NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	20						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				ACAATGAAGGACCCAAGGCTG	0.383000														112			18		0	0	1	0	0
RABEP2	79874	broad.mit.edu	37	16	28920040	28920040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28920040G>A	uc002drq.3	-	7	1183	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.R308W|RABEP2_uc010byn.3_Missense_Mutation_p.R347W	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	379					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TCATTCAACCGCTTTACCTCA	0.607000														348			43		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35068880	35068880	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35068880C>T	uc003jjm.3	-	8	1344	c.785_splice	c.e8+1	p.S262_splice	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Splice_Site_p.S262_splice|PRLR_uc003jjh.2_Splice_Site_p.S262_splice|PRLR_uc003jji.2_Splice_Site_p.S191_splice|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Splice_Site_p.S161_splice|PRLR_uc021xxl.1_Splice_Site_p.S262_splice|PRLR_uc010iuw.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	262					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CAGTGAAGTACCTATAGCCCT	0.398000														66			18		0	0	1	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406207	148406207	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148406207A>C	uc003lpu.3	-	11	3133	c.2981T>G	c.(2980-2982)cTc>cGc	p.L994R	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.L638R|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.L541R|SH3TC2_uc010jgx.3_Missense_Mutation_p.L987R|SH3TC2_uc003lpv.1_Missense_Mutation_p.S577A|SH3TC2_uc011dbz.1_Missense_Mutation_p.S915A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	994							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGTCCCTGAGTTGCTGAGC	0.582000														255			61		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482389	140482389	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140482389C>T	uc003lio.3	+	0	2156	c.2156C>T	c.(2155-2157)gCg>gTg	p.A719V	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	719					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A719A(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGGGCGGCCTCGGTG	0.667000														455			95		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40408716	40408716	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40408716G>A	uc002omp.4	-	7	4131	c.4123C>T	c.(4123-4125)Cgg>Tgg	p.R1375W		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1375	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGGTGACCCGCACATAGTAC	0.582000														189			20		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50444294	50444294	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50444294G>T	uc003tow.4	+	3	379	c.224G>T	c.(223-225)gGg>gTg	p.G75V	IKZF1_uc022acq.1_Missense_Mutation_p.G75V|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Intron|IKZF1_uc003tox.4_Missense_Mutation_p.G75V|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Missense_Mutation_p.G75V|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Missense_Mutation_p.G75V|IKZF1_uc003toz.4_Missense_Mutation_p.G45V|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	75					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAAATGAATGGGGAAGAATGT	0.488000			"""D,T"""	BCL6	"""ALL, DLBCL"""									99			28		8.24728e-16	9.79314e-16	1	1	0
C10orf54	64115	broad.mit.edu	37	10	73521358	73521358	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521358T>C	uc001jsd.3	-	1	649	c.508A>G	c.(508-510)Aca>Gca	p.T170A	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.T38A	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	170						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCCTCACCTGTCTGCACCTGC	0.622000														33			7		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67109448	67109448	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67109448T>G	uc002jhw.1	-	14	2131	c.1956A>C	c.(1954-1956)caA>caC	p.Q652H		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	652	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GGCTCCACACTTGATCTCTGG	0.413000														64			15		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9030969	9030969	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9030969C>T	uc001apm.3	+	6	797	c.773C>T	c.(772-774)aCc>aTc	p.T258I	CA6_uc009vmn.3_Missense_Mutation_p.T198I	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	258					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		CGCAACAAGACCATCCACAAC	0.512000														182			37		0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35783581	35783581	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35783581C>T	uc001wtd.3	+	5	712	c.603C>T	c.(601-603)tgC>tgT	p.C201C	KIAA0391_uc001wta.3_Non-coding_Transcript|PSMA6_uc010tpt.2_Silent_p.C122C|PSMA6_uc010tpu.2_Silent_p.C122C	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	201					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CAATTACATGCCTGTCTACTG	0.323000														33			5		0	0	1	0	0
PPP6C	5537	broad.mit.edu	37	9	127912091	127912091	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127912091T>G	uc010mwv.3	-	7	1111	c.890A>C	c.(889-891)aAt>aCt	p.N297T	PPP6C_uc004bpg.4_Missense_Mutation_p.N260T|PPP6C_uc010mww.3_Missense_Mutation_p.N238T|PPP6C_uc011lzr.2_Missense_Mutation_p.N113T	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	260					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						ATAGCAGTAATTAGGAGCAGA	0.393000														57			14		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9605704	9605704	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9605704G>A	uc003wss.3	+	17	2819	c.2814G>A	c.(2812-2814)acG>acA	p.T938T	TNKS_uc011kww.2_Silent_p.T701T|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	938					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.T938M(1)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAGGCCAGACGCCTCTGGATC	0.522000														63			14		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36464161	36464161	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36464161G>A	uc003tff.3	+	15	2815	c.2611G>A	c.(2611-2613)Gta>Ata	p.V871I	ANLN_uc011kaz.2_Missense_Mutation_p.V783I|ANLN_uc003tfg.3_Missense_Mutation_p.V834I|ANLN_uc010kxe.3_Missense_Mutation_p.V833I	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	871	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGCAAGATGTATCCAATGA	0.294000														45			8		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228511297	228511297	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228511297C>T	uc009xez.1	+	55	15686	c.15642C>T	c.(15640-15642)ctC>ctT	p.L5214L	OBSCN_uc001hsn.3_Silent_p.L5214L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5214	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCTGAGCTCCGTGTGGACT	0.587000														34			10		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433199	73433199	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433199G>A	uc003dpl.1	-	9	2614	c.2518C>T	c.(2518-2520)Cgg>Tgg	p.R840W	PDZRN3_uc011bgh.1_Missense_Mutation_p.R497W|PDZRN3_uc010hoe.1_Missense_Mutation_p.R538W|PDZRN3_uc021xaq.1_Missense_Mutation_p.R133W|PDZRN3_uc011bgf.1_Missense_Mutation_p.R557W|PDZRN3_uc011bgg.1_Missense_Mutation_p.R560W	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	840							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTGGCTCTCCGCTCTTTGCTT	0.637000														211			54		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91643633	91643633	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91643633T>C	uc003ulg.3	+	9	3828	c.3603T>C	c.(3601-3603)taT>taC	p.Y1201Y	AKAP9_uc003ule.2_Silent_p.Y1213Y|AKAP9_uc003ulf.3_Silent_p.Y1201Y|AKAP9_uc003uli.3_Silent_p.Y826Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1213					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATGTTCTTATTTTTTACAGG	0.373000			T	BRAF	papillary thyroid									36			12		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7142938	7142938	+	Missense_Mutation	SNP	C	T	T	rs35045353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7142938C>T	uc002mgd.1	-	11	2540	c.2431G>A	c.(2431-2433)Ggc>Agc	p.G811S	INSR_uc002mge.1_Missense_Mutation_p.G799S	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	811	Fibronectin type-III 2.		G -> S (in dbSNP:rs35045353).		G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCGCAAGCCGGAGATGACC	0.612000														61			13		0	0	1	0	0
KLK14	43847	broad.mit.edu	37	19	51582124	51582124	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51582124G>A	uc021uyk.1	-	5	818	c.599C>T	c.(598-600)aCg>aTg	p.T200M	KLK14_uc002pvs.1_Missense_Mutation_p.T200M	NM_022046	NP_071329	Q9P0G3	KLK14_HUMAN	Homo sapiens kallikrein-related peptidase 14 (KLK14), mRNA.	200	Peptidase S1.				epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction	extracellular space	serine-type endopeptidase activity			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		CATGCCAGGCGTGATGGTTCT	0.587000														517			18		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165792768	165792768	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165792768C>A	uc003qun.3	-	18	2115	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.D554Y|PDE10A_uc003quo.3_Missense_Mutation_p.D634Y	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	624					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AAAGCAAGGTCTGTGGCAATG	0.403000														124			26		3.01185e-09	3.33505e-09	1	1	0
LARS2	23395	broad.mit.edu	37	3	45459025	45459025	+	Missense_Mutation	SNP	G	A	A	rs150836537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45459025G>A	uc003cop.1	+	4	600	c.415G>A	c.(415-417)Gca>Aca	p.A139T	LARS2_uc010hit.1_Missense_Mutation_p.A96T	NM_015340	NP_056155	Q15031	SYLM_HUMAN	Homo sapiens leucyl-tRNA synthetase 2, mitochondrial (LARS2), nuclear gene encoding mitochondrial protein, mRNA.	139					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	TGAAAATGCCGCAGTCGAGAG	0.398000														75			16		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451842	76451842	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76451842G>T	uc010dhp.2	-	62	10179	c.10054C>A	c.(10054-10056)Ctg>Atg	p.L3352M	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCCCACACAGCGTGACCCCC	0.532000														49			10		7.03913e-09	7.75971e-09	1	1	0
CD93	22918	broad.mit.edu	37	20	23066662	23066662	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066662G>A	uc002wsv.3	-	0	316	c.168C>T	c.(166-168)aaC>aaT	p.N56N		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	56	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTTGCCCCCGTTCTGGTTGC	0.687000														40			5		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567505	136567505	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136567505G>A	uc002tuu.1	-	7	2423	c.2412C>T	c.(2410-2412)ggC>ggT	p.G804G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	804	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGCCTTCGAAGCCATCAATGA	0.443000														146			56		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777407	183777407	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777407G>A	uc003fmk.3	+	6	938	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	302						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTTGCTCCCTGCCAGTGGCAC	0.587000														244			68		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78215619	78215619	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78215619C>T	uc002jyb.2	+	10	1342	c.1036_splice	c.e10+1	p.G346_splice	SLC26A11_uc002jyc.2_Splice_Site_p.G346_splice|SLC26A11_uc002jyd.2_Splice_Site_p.G346_splice|SLC26A11_uc010dhv.2_Splice_Site_p.G346_splice	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	346						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGCTGGCCATCGGTAAGACCC	0.552000														208			35		0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2035969	2035969	+	Silent	SNP	C	T	T	rs142220504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035969C>T	uc002cob.3	+	2	628	c.558C>T	c.(556-558)ttC>ttT	p.F186F	TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Silent_p.F111F	NM_005262	NP_005253	P55789	ALR_HUMAN	Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA.	186	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity	p.F186F(2)		endometrium(1)|large_intestine(1)|lung(3)	5						AGCCTGACTTCGACTGCTCAA	0.607000														237			43		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073905	135073905	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073905C>T	uc004cbh.2	+	2	1542	c.766C>T	c.(766-768)Ctg>Ttg	p.L256L		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	256	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCGCATGCGGCTGCTGCGCCC	0.642000														264			15		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105180722	105180722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105180722C>T	uc001ypb.2	+	20	3366	c.3223C>T	c.(3223-3225)Cgt>Tgt	p.R1075C	INF2_uc001ypc.2_Missense_Mutation_p.R1075C|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1075					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCTGGAGAGGCGTTCTTCCTG	0.677000														34			6		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46387913	46387913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387913G>A	uc001ncn.1	+	1	232	c.107G>A	c.(106-108)cGc>cAc	p.R36H	DGKZ_uc001nch.2_Intron|DGKZ_uc010rgq.2_Intron|DGKZ_uc010rgr.2_Intron|DGKZ_uc001ncj.2_Intron|DGKZ_uc001nck.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.2_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	36					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GCCCGGCGTCGCTCCCCCGCT	0.716000														20			4		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540906	65540906	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540906G>A	uc002sdr.4	-	5	1521	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SPRED2_uc010fcw.3_Missense_Mutation_p.A326V	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	329	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCGGGCGCGTCCTGGCA	0.642000														303			105		0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862336	14862336	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14862336G>A	uc003bzc.3	+	0	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_uc011avk.2_Silent_p.S586S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557000														97			32		0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76262729	76262729	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76262729C>T	uc001dhd.2	+	0	174	c.59C>T	c.(58-60)tCg>tTg	p.S20L		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	20				SS -> VV (in Ref. 1; AAB72039).	chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TCCCCGTCGTCGGGAGAAACC	0.602000								Mismatch excision repair (MMR)						124			10		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7046106	7046106	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7046106G>T	uc001qrw.1	+	4	1913	c.1676G>T	c.(1675-1677)aGc>aTc	p.S559I	ATN1_uc001qrx.1_Missense_Mutation_p.S559I	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	559	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GTGTCCTACAGCCAAGCAGGC	0.622000														201			49		1.56793e-16	1.87132e-16	1	1	0
CNN3	1266	broad.mit.edu	37	1	95369040	95369040	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95369040C>T	uc001dqz.4	-	1	383	c.98G>A	c.(97-99)cGc>cAc	p.R33H	CNN3_uc010otv.2_5'UTR|CNN3_uc010otx.2_Missense_Mutation_p.R33H	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	33	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		TATCCAATTGCGAAGATCTTC	0.458000														79			16		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12089241	12089241	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12089241G>A	uc010xmf.2	+	3	688	c.562G>A	c.(562-564)Gga>Aga	p.G188R	ZNF700_uc002msv.3_Missense_Mutation_p.G171R|ZNF700_uc002msw.3_Missense_Mutation_p.G168R|ZNF700_uc010xmg.2_Missense_Mutation_p.G46R	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GAATCACACCGGAGAGAAACC	0.428000														183			50		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28446601	28446601	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28446601C>T	uc001zbj.3	-	48	7822	c.7716_splice	c.e48+1	p.Q2572_splice	HERC2_uc001zbk.1_Splice_Site_p.Q107_splice	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2572					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAATTACTCACCTGAATATTC	0.433000														81			11		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71735344	71735344	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71735344C>T	uc001orl.1	-	4	356	c.184G>A	c.(184-186)Gac>Aac	p.D62N	NUMA1_uc001ork.1_Missense_Mutation_p.D62N|NUMA1_uc001orm.1_Missense_Mutation_p.D62N|NUMA1_uc009ysx.1_Missense_Mutation_p.D62N|NUMA1_uc001oro.1_Missense_Mutation_p.D62N|NUMA1_uc009ysy.2_Missense_Mutation_p.D62N|NUMA1_uc001orp.3_Missense_Mutation_p.D62N|NUMA1_uc001orq.3_Missense_Mutation_p.D62N|NUMA1_uc021qmw.1_Missense_Mutation_p.D62N	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	62					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CACACAAAGTCCAGTCTCTCT	0.468000			T	RARA	APL									115			23		0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229795022	229795022	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229795022G>A	uc001hts.1	+	9	4689	c.4553G>A	c.(4552-4554)gGa>gAa	p.G1518E	URB2_uc009xfd.1_Missense_Mutation_p.G1518E	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	1518						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						AAACATGAAGGAGAGAAAAGA	0.507000														225			63		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26916011	26916011	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26916011G>A	uc002rhn.2	+	0	431	c.268G>A	c.(268-270)Gtc>Atc	p.V90I		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	90					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCCATCACCGTCATCACCAC	0.746000														112			49		0	0	1	0	0
LRCH1	23143	broad.mit.edu	37	13	47269052	47269052	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47269052C>T	uc001vbk.3	+	8	1381	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	LRCH1_uc010acp.2_Missense_Mutation_p.P382L|LRCH1_uc001vbj.3_Missense_Mutation_p.P382L|LRCH1_uc001vbl.4_Missense_Mutation_p.P382L	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	382										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		GAATTTCAACCGGAGCCTTCC	0.398000														107			21		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35714813	35714813	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35714813C>G	uc003zxt.2	-	21	3169	c.2815G>C	c.(2815-2817)Gcc>Ccc	p.A939P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	939					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTAGAGGCTGCGTGCTGA	0.602000														224			33		0	0	1	0	0
ZNF34	80778	broad.mit.edu	37	8	145999156	145999156	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145999156C>T	uc003zdy.4	-	5	1280	c.1178G>A	c.(1177-1179)tGc>tAc	p.C393Y	ZNF34_uc010mgb.3_Missense_Mutation_p.C290Y|ZNF34_uc003zdx.4_Missense_Mutation_p.C372Y	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		ACATTCCTTGCACTCAAATGG	0.428000														41			11		0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30118395	30118395	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30118395G>A	uc003taq.3	+	13	1954	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	PLEKHA8_uc022aba.1_Intron|PLEKHA8_uc003tan.3_Intron	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	518					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ATCTGATGAGGTGGTATGATG	0.517000														76			16		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37440779	37440779	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37440779C>T	uc002ofc.3	+	6	1242	c.724C>T	c.(724-726)Cga>Tga	p.R242*	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Nonsense_Mutation_p.R241*|ZNF568_uc002ofd.3_Nonsense_Mutation_p.R178*|ZNF568_uc010efe.3_Nonsense_Mutation_p.R178*|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAGACATGAGCGAATTCATGC	0.378000														82			21		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50405478	50405478	+	Silent	SNP	G	A	A	rs11698418		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50405478G>A	uc002xwh.4	-	2	2765	c.2664C>T	c.(2662-2664)caC>caT	p.H888H	SALL4_uc010gii.3_Silent_p.H451H|SALL4_uc002xwi.4_Silent_p.H111H	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	888			H -> R (in DRRS).		transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCCGCTCGTGGATCTGAA	0.542000														119			26		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33872190	33872190	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33872190A>G	uc001zhi.3	+	12	1352	c.1282A>G	c.(1282-1284)Aca>Gca	p.T428A	RYR3_uc010bar.3_Missense_Mutation_p.T428A	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	428					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R427P(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAACAATCGCACAGCTGCCCC	0.557000														65			11		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91735055	91735055	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91735055A>G	uc003ulg.3	+	46	11619	c.11394A>G	c.(11392-11394)agA>agG	p.R3798R	AKAP9_uc003ulf.3_Silent_p.R3790R|AKAP9_uc003uli.3_Silent_p.R3421R|AKAP9_uc003ulj.3_Silent_p.R1568R|AKAP9_uc003ull.3_Silent_p.R694R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3802					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATATTAACAGAGATGGCTTTG	0.393000			T	BRAF	papillary thyroid									119			10		0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340290	1340290	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1340290G>A	uc002fsl.3	-	1	551	c.401C>T	c.(400-402)gCg>gTg	p.A134V	CRK_uc002fsm.3_Missense_Mutation_p.A134V	NM_016823	NP_058431	P46108	CRK_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian) (CRK), transcript variant II, mRNA.	134	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	SH2 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		CACATACTCCGCCTCCTCCTG	0.463000														183			50		0	0	1	0	0
ANAPC4	29945	broad.mit.edu	37	4	25418146	25418146	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25418146C>A	uc003gro.3	+	26	2130	c.2001C>A	c.(1999-2001)gtC>gtA	p.V667V	ANAPC4_uc003grp.3_Silent_p.V553V|ANAPC4_uc003grq.3_Silent_p.V120V	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	667					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				GACTCTTGGTCCAGCTGCCTT	0.373000														73			12		0.00010058	0.000104357	1	1	0
JHDM1D	80853	broad.mit.edu	37	7	139829450	139829450	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139829450G>A	uc003vvm.3	-	3	406	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	134					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					TTATTTCATCGGCACTAAGGA	0.328000														46			7		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105621927	105621927	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105621927C>T	uc001yqg.3	-	4	1164	c.760G>A	c.(760-762)Ggg>Agg	p.G254R	JAG2_uc001yqh.3_Missense_Mutation_p.G254R	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	254	EGF-like 1.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTGCATCCCCCGTGGAGCAAA	0.647000														242			51		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47041693	47041693	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47041693C>T	uc003cqp.3	+	26	4283	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G	NBEAL2_uc010hjm.2_Silent_p.G745G|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1368							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TAGGATCAGGCAACACTGCTG	0.637000														199			41		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1255465	1255465	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255465G>T	uc001lta.3	+	19	2467	c.2408G>T	c.(2407-2409)tGc>tTc	p.C803F	MUC5B_uc009yct.2_Missense_Mutation_p.C803F	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	803					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TACCTGGACTGCAGCAACAGC	0.692000														34			10		3.03607e-14	3.56369e-14	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85750273	85750273	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85750273G>A	uc003hpd.3	-	8	1248	c.840C>T	c.(838-840)gtC>gtT	p.V280V	WDFY3_uc003hpf.3_Silent_p.V280V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	280						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.V280V(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAACATTTCGACAATTTCTA	0.358000														94			26		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75130641	75130641	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75130641G>A	uc001xqb.3	-	18	2835	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	KIAA0317_uc010tut.1_Missense_Mutation_p.A616V	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	777	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		GGTCGGAGCGGCAATAATCTG	0.542000														246			15		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140725464	140725464	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140725464C>T	uc003ljm.2	+	0	1864	c.1864C>T	c.(1864-1866)Cac>Tac	p.H622Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.H622Y	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	624	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGTCTGCACACGGGCGA	0.697000														217			27		0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266352	102266352	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102266352C>A	uc003pqp.4	+	8	1604	c.1311C>A	c.(1309-1311)acC>acA	p.T437T	GRIK2_uc003pqn.3_Silent_p.T437T|GRIK2_uc010kcw.3_Silent_p.T437T|GRIK2_uc003pqo.4_Silent_p.T437T|GRIK2_uc021zdk.1_Silent_p.T437T|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	437					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TTGTTACCACCATTTTGGTAA	0.383000														25			9		0.000274275	0.000282808	1	1	0
IFT88	8100	broad.mit.edu	37	13	21212570	21212570	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21212570G>A	uc001unh.3	+	18	1909	c.1513G>A	c.(1513-1515)Gca>Aca	p.A505T	IFT88_uc001uni.3_Missense_Mutation_p.A496T|IFT88_uc001unj.3_Missense_Mutation_p.A495T|IFT88_uc010tcq.2_Missense_Mutation_p.A476T|IFT88_uc001unk.3_Missense_Mutation_p.A251T	NM_175605	NP_006522	Q13099	IFT88_HUMAN	Homo sapiens intraflagellar transport 88 homolog (Chlamydomonas) (IFT88), transcript variant 1, mRNA.	505					cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		TACAGTTTTTGCAAATGGTGA	0.368000														86			20		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73470188	73470188	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73470188G>A	uc002siz.3	+	3	467	c.324G>A	c.(322-324)gtG>gtA	p.V108V	CCT7_uc010yrf.2_Silent_p.V64V|CCT7_uc010yrh.2_5'UTR|CCT7_uc010yrg.2_Silent_p.V8V|CCT7_uc010yri.2_Silent_p.V21V|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	108					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGAAGCAGGTGAAACCCTATG	0.512000														116			28		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744622	37744622	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744622G>A	uc004aag.1	+	15	2637	c.2593G>A	c.(2593-2595)Gac>Aac	p.D865N	FRMPD1_uc004aah.1_Missense_Mutation_p.D865N	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	865						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGTGTAGACGACGTGTGCTA	0.577000														95			25		0	0	1	0	0
POLD2	5425	broad.mit.edu	37	7	44154541	44154541	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44154541G>T	uc010kxz.3	-	11	1903	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	POLD2_uc010kya.3_Missense_Mutation_p.P418H|POLD2_uc003tkf.4_Missense_Mutation_p.P418H	NM_006230	NP_006221	P49005	DPOD2_HUMAN	Homo sapiens polymerase (DNA directed), delta 2, regulatory subunit 50kDa (POLD2), transcript variant 2, mRNA.	418					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|base-excision repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CTGGTCCTCAGGACCTGCAAA	0.562000														49			6		2.7689e-08	3.02839e-08	1	1	0
ADH7	131	broad.mit.edu	37	4	100349765	100349765	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100349765C>T	uc003huv.2	-	2	420	c.179G>A	c.(178-180)cGc>cAc	p.R60H	ADH7_uc021xqj.1_Missense_Mutation_p.R68H	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	60					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	GTCATCTGTGCGACAGATTCC	0.413000														163			14		0	0	1	0	0
WDR11	55717	broad.mit.edu	37	10	122630757	122630757	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:122630757C>T	uc021pzt.1	+	9	1616	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	WDR11_uc010qte.2_Missense_Mutation_p.T59M|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	457						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTCCTGCTGACGGGACTGCTT	0.468000														101			21		0	0	1	0	0
AKAP14	158798	broad.mit.edu	37	X	119054470	119054470	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119054470G>T	uc004ese.3	+	7	633	c.495_splice	c.e7-1	p.R165_splice	AKAP14_uc004esf.3_Splice_Site_p.R105_splice	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	165						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						TTCCTTTGTAGACCAGGAATG	0.333000														38			8		3.09899e-07	3.33423e-07	1	1	0
SSPO	23145	broad.mit.edu	37	7	149479934	149479934	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149479934G>T	uc010lpk.3	+	15	1901	c.1901_splice	c.e15-1	p.G634_splice	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	634	VWFD 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTTCCAGGAGCTGTGCT	0.607000														87			6		5.18039e-06	5.47662e-06	1	1	0
CBX2	84733	broad.mit.edu	37	17	77757883	77757883	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77757883T>G	uc002jxc.3	+	4	699	c.641T>G	c.(640-642)cTg>cGg	p.L214R		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	214					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGGCAGCTCTGAAGGCCCAC	0.706000														121			30		0	0	1	0	0
CTPS2	56474	broad.mit.edu	37	X	16635291	16635291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16635291C>T	uc004cxk.3	-	15	2272	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	CTPS2_uc004cxl.3_Missense_Mutation_p.E510K|CTPS2_uc004cxm.3_Missense_Mutation_p.E510K	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	510	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TCAATGATTTCCATCCTGTCT	0.378000														125			40		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103266610	103266610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103266610C>T	uc003ykr.2	-	58	8775	c.8320G>A	c.(8320-8322)Gtc>Atc	p.V2774I	UBR5_uc003yks.2_Missense_Mutation_p.V2773I|UBR5_uc003ykq.3_Missense_Mutation_p.V285I	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2774	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGAGTGGGACGTAAAGTCGA	0.393000														47			16		0	0	1	0	0
CST2	1470	broad.mit.edu	37	20	23807128	23807128	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23807128T>C	uc002wtq.1	-	0	185	c.170A>G	c.(169-171)aAg>aGg	p.K57R		NM_001322	NP_001313	P09228	CYTT_HUMAN	Homo sapiens cystatin SA (CST2), mRNA.	57						extracellular region	cysteine-type endopeptidase inhibitor activity	p.N56N(1)		breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TTCAGTGGCCTTGTTATACTC	0.572000														135			14		0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24045124	24045124	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24045124G>A	uc001wkq.2	-	3	1839	c.921C>T	c.(919-921)ggC>ggT	p.G307G	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Silent_p.G307G|JPH4_uc001wks.2_Silent_p.G307G	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	307					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCAGCCACTCGCCCTCGTAGC	0.741000														50			6		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123130479	123130479	+	Missense_Mutation	SNP	G	A	A	rs72925924	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123130479G>A	uc003ieh.3	+	15	1963	c.1918G>A	c.(1918-1920)Gtt>Att	p.V640I	KIAA1109_uc003iei.1_Missense_Mutation_p.V394I|KIAA1109_uc010ins.1_Intron|KIAA1109_uc003iej.1_Missense_Mutation_p.V25I	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	640					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						ATGGCGCAACGTTACTCAGGA	0.463000														61			14		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2236773	2236773	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236773C>T	uc010bsg.1	-	9	1015	c.983G>A	c.(982-984)cGg>cAg	p.R328Q		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	328	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						ATTGCCCGTCCGGTTGTCATG	0.667000														130			31		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42154490	42154490	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42154490G>A	uc003baz.1	+	17	2098	c.2073G>A	c.(2071-2073)caG>caA	p.Q691Q	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Silent_p.Q59Q|MEI1_uc003bbc.1_Silent_p.Q59Q|MEI1_uc010gym.1_Silent_p.Q59Q|MEI1_uc003bbd.1_5'UTR	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	691							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCAGAGACAGTACTGCATCC	0.577000														36			8		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79733552	79733552	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79733552G>T	uc003kgr.4	+	3	1350	c.1048G>T	c.(1048-1050)Gac>Tac	p.D350Y	ZFYVE16_uc010jak.2_Missense_Mutation_p.D350Y|ZFYVE16_uc003kgp.3_Missense_Mutation_p.D350Y|ZFYVE16_uc003kgq.4_Missense_Mutation_p.D350Y|ZFYVE16_uc003kgs.4_Missense_Mutation_p.D350Y	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	350					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAAAAGTTTAGACCTTAAGGA	0.368000														87			22		2.98393e-07	3.21458e-07	1	1	0
RUFY3	22902	broad.mit.edu	37	4	71648856	71648856	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71648856C>T	uc003hfr.3	+	8	1538	c.943C>T	c.(943-945)Cga>Tga	p.R315*	RUFY3_uc003hfp.4_Nonsense_Mutation_p.R375*|RUFY3_uc003hfq.3_Nonsense_Mutation_p.R315*|RUFY3_uc011cax.2_Nonsense_Mutation_p.R333*|RUFY3_uc011cay.2_Nonsense_Mutation_p.R251*	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	315					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGAAATGGAACGAGTTAAAGA	0.308000														54			7		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18801889	18801889	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18801889G>T	uc003sui.3	+	13	2194	c.2153G>T	c.(2152-2154)aGg>aTg	p.R718M	HDAC9_uc003sue.3_Missense_Mutation_p.R715M|HDAC9_uc011jyd.2_Missense_Mutation_p.R715M|HDAC9_uc003suh.3_Missense_Mutation_p.R715M|HDAC9_uc003suj.3_Missense_Mutation_p.R674M|HDAC9_uc003sua.1_Missense_Mutation_p.R693M	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	715	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTGGACCCCAGGATACTCCTA	0.507000														47			12		2.27111e-07	2.44751e-07	1	1	0
GPR155	151556	broad.mit.edu	37	2	175300962	175300962	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175300962C>T	uc002uit.3	-	16	2886	c.2495G>A	c.(2494-2496)aGa>aAa	p.R832K	GPR155_uc002uiu.3_Missense_Mutation_p.R832K|GPR155_uc002uiv.3_Missense_Mutation_p.R832K|GPR155_uc010fqs.3_Missense_Mutation_p.R804K	NM_001033045	NP_689742	Q7Z3F1	GP155_HUMAN	Homo sapiens G protein-coupled receptor 155 (GPR155), transcript variant 9, mRNA.	832	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTGAAGAAATCTGTAAAACAA	0.433000														267			54		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33926885	33926885	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926885C>T	uc001zhi.3	+	24	3196	c.3126C>T	c.(3124-3126)cgC>cgT	p.R1042R	RYR3_uc010bar.3_Silent_p.R1042R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1042	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGCTGTGCGCACTTTTGTTG	0.463000														139			24		0	0	1	0	0
DHX15	1665	broad.mit.edu	37	4	24543646	24543646	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24543646C>T	uc003gqx.3	-	8	1504	c.1336_splice	c.e8-1	p.V446_splice	DHX15_uc003gqw.3_5'Flank	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	446	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				GATTGTAGACCTATTGGAATT	0.408000														72			15		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49314776	49314776	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49314776C>T	uc001rso.3	+	6	1317	c.1090C>T	c.(1090-1092)Ctg>Ttg	p.L364L		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAAAGTGCTGCCTTTTTA	0.403000														88			21		0	0	1	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598717	151598717	+	Missense_Mutation	SNP	G	A	A	rs148906217	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151598717G>A	uc003ezf.2	+	2	491	c.386G>A	c.(385-387)cGa>cAa	p.R129Q		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	129						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	TATCCTTTCCGAGAACACCTT	0.368000														103			28		0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78376548	78376548	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78376548G>T	uc003kft.3	+	3	356	c.297G>T	c.(295-297)agG>agT	p.R99S	BHMT2_uc011cth.2_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase 2 (BHMT2), transcript variant 1, mRNA.	99	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	ACCTCGCCAGGGAAGTGGCTG	0.438000														204			34		4.62619e-21	5.66726e-21	1	1	0
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71575657C>T	uc001xmo.2	+	33	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_uc010are.1_Missense_Mutation_p.A2102V|PCNX_uc010arf.1_Missense_Mutation_p.A1001V|PCNX_uc001xmp.2_Missense_Mutation_p.A297V	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	2213						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567000														165			15		0	0	1	0	0
IRAK4	51135	broad.mit.edu	37	12	44166052	44166052	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44166052C>A	uc001rnu.3	+	4	507	c.377C>A	c.(376-378)cCt>cAt	p.P126H	IRAK4_uc001rnt.3_Missense_Mutation_p.P126H|IRAK4_uc001rnx.3_Missense_Mutation_p.P2H|IRAK4_uc001rny.3_Missense_Mutation_p.P2H|IRAK4_uc010sky.1_Missense_Mutation_p.P2H|IRAK4_uc001rnv.3_Missense_Mutation_p.P2H|IRAK4_uc001rnw.3_Missense_Mutation_p.P2H	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	126					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		AAACAGATGCCTTTCTGTGAC	0.373000														85			16		5.01169e-05	5.22235e-05	1	1	0
SMPD3	55512	broad.mit.edu	37	16	68404770	68404770	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68404770A>G	uc002ewa.3	-	2	1737	c.1315T>C	c.(1315-1317)Ttt>Ctt	p.F439L	SMPD3_uc010cfe.3_Missense_Mutation_p.F439L|SMPD3_uc010vlh.2_Missense_Mutation_p.F439L	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	439					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	ACCTTGAGAAACAGAGCTCCC	0.612000														45			14		0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36489433	36489433	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36489433C>A	uc003tff.3	+	22	3442	c.3238C>A	c.(3238-3240)Ctc>Atc	p.L1080I	ANLN_uc011kaz.2_Missense_Mutation_p.L992I|ANLN_uc003tfg.3_Missense_Mutation_p.L1043I|ANLN_uc010kxe.3_Missense_Mutation_p.L1042I	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	1080	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CAGGGACACACTCTGTGTTAC	0.393000														67			15		7.93312e-07	8.47869e-07	1	1	0
SRP72	6731	broad.mit.edu	37	4	57366836	57366836	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57366836G>T	uc003hbv.3	+	17	1853	c.1813G>T	c.(1813-1815)Gca>Tca	p.A605S	SRP72_uc010ihe.3_Missense_Mutation_p.A544S|SRP72_uc003hbx.3_Non-coding_Transcript	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	605					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GACCCAGGGAGCAACTGCAGG	0.453000														55			14		9.31168e-06	9.81217e-06	1	1	0
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34546711C>T	uc001zhw.3	-	7	1120	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_uc001zhv.3_Missense_Mutation_p.R268H|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.R304H|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.R260H|SLC12A6_uc001zib.3_Missense_Mutation_p.R310H|SLC12A6_uc001zic.3_Missense_Mutation_p.R319H|SLC12A6_uc010bau.3_Missense_Mutation_p.R319H|SLC12A6_uc001zid.3_Missense_Mutation_p.R260H|SLC12A6_uc001zhu.3_Missense_Mutation_p.R131H	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	319					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453000														85			13		0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179076722	179076722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076722G>A	uc003fjt.3	+	2	434	c.427G>A	c.(427-429)Gtt>Att	p.V143I	MFN1_uc003fjs.3_Missense_Mutation_p.V115I|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	115					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTTCCTAAGTGTTGAAGGAAC	0.388000														84			10		0	0	1	0	0
SRSF11	9295	broad.mit.edu	37	1	70710389	70710389	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70710389C>T	uc001des.3	+	8	947	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SRSF11_uc001det.3_Missense_Mutation_p.R275W|SRSF11_uc001deu.2_Missense_Mutation_p.R275W|SRSF11_uc001dev.3_Missense_Mutation_p.R85W|SRSF11_uc001dew.3_Missense_Mutation_p.R215W	NM_004768	NP_004759	Q05519	SRS11_HUMAN	Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA.	275	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				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.R275W(1)		large_intestine(3)|ovary(2)|skin(1)	6						CAGATCGAGACGGCGGTCACA	0.428000														103			10		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	T	T	rs113761247	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32725559C>T	uc003obz.2	-	3	831	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000														36			11		0	0	1	0	0
MTSS1	9788	broad.mit.edu	37	8	125580657	125580657	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125580657C>T	uc003yrl.2	-	7	1127	c.593G>A	c.(592-594)cGa>cAa	p.R198Q	NDUFB9_uc011lim.1_3'UTR|MTSS1_uc011lin.1_5'Flank|MTSS1_uc011lio.1_Missense_Mutation_p.R84Q|MTSS1_uc003yri.2_5'UTR|MTSS1_uc003yrj.2_Missense_Mutation_p.R194Q|MTSS1_uc003yrk.2_Missense_Mutation_p.R194Q	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	194	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTACAGAATCGGCCACGTTC	0.438000														107			20		0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126332478	126332478	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126332478G>A	uc003qam.3	+	8	961	c.840G>A	c.(838-840)gaG>gaA	p.E280E	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Silent_p.E280E	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	280					tRNA processing		methyltransferase activity|nucleic acid binding	p.L279L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ATGGTTTAGAGAAGTATTACC	0.388000														36			8		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234180	37234180	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234180C>A	uc002hrg.2	-	10	1384	c.1172G>T	c.(1171-1173)aGc>aTc	p.S391I	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.S99I|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	391					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGTGAGGCTGTCGATGAA	0.607000														112			19		0.000132079	0.000137	1	1	0
TRIM5	85363	broad.mit.edu	37	11	5699533	5699533	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5699533C>T	uc001mbm.2	-	3	948	c.645G>A	c.(643-645)acG>acA	p.T215T	TRIM5_uc001mbq.1_Silent_p.T215T|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.T215T|TRIM5_uc001mbp.3_Silent_p.T215T|TRIM5_uc021qcx.1_Silent_p.T215T	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	215					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTCAGAGTTCGTAAGGCTTT	0.527000														127			10		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207538	32207538	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32207538G>A	uc001btn.3	-	8	1802	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	BAI2_uc010ogo.2_Missense_Mutation_p.A125V|BAI2_uc010ogp.2_Missense_Mutation_p.A416V|BAI2_uc010ogq.2_Missense_Mutation_p.A483V|BAI2_uc001bto.3_Missense_Mutation_p.A483V|BAI2_uc001btq.1_Missense_Mutation_p.A416V|BAI2_uc010ogr.1_Missense_Mutation_p.A416V	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	483	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CAGGCTCCACGCATTCCATGG	0.642000														146			29		0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108984662	108984662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108984662C>T	uc003psk.2	+	2	942	c.626C>T	c.(625-627)tCc>tTc	p.S209F	FOXO3_uc003psm.2_Missense_Mutation_p.S209F|FOXO3_uc011ean.1_5'UTR|FOXO3_uc010kdj.1_5'UTR	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	209					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		CTGCAGAACTCCATCCGGCAC	0.468000														127			26		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13410018	13410018	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13410018T>C	uc002mwy.3	-	18	2665	c.2429A>G	c.(2428-2430)cAc>cGc	p.H810R	CACNA1A_uc010dzc.2_Missense_Mutation_p.H336R|CACNA1A_uc010xnd.2_Missense_Mutation_p.H813R|CACNA1A_uc021ups.1_Missense_Mutation_p.H810R|CACNA1A_uc010xne.2_Missense_Mutation_p.H813R|CACNA1A_uc010dze.2_Missense_Mutation_p.H810R|CACNA1A_uc021upt.1_Missense_Mutation_p.H811R	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	811					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.T809M(1)		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)	TGGCCGCAGGTGCCGCGTGTA	0.647000														165			36		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186709	61186709	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61186709C>T	uc001xfc.3	-	1	1378	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SIX4_uc010app.1_Missense_Mutation_p.V432I	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	440						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GAGACAGGGACACTGGGGCTG	0.512000														170			40		0	0	1	0	0
CLCN7	1186	broad.mit.edu	37	16	1509188	1509188	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1509188G>A	uc002clv.2	-	7	705	c.595_splice	c.e7-1	p.P199_splice	CLCN7_uc002clw.2_Splice_Site_p.P175_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	199						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCACCGGCTGAAAGAGG	0.657000														67			13		0	0	1	0	0
KIAA1161	57462	broad.mit.edu	37	9	34372898	34372898	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34372898C>T	uc003zue.4	-	1	211	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	15					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AGGCCGGCGGCGGCGGGGGTA	0.627000														380			84		0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187387999	187387999	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187387999C>T	uc003frn.3	-	0	203	c.81G>A	c.(79-81)tcG>tcA	p.S27S		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	27					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTCTGGGGTCCGAGGGAGCGC	0.682000														19			8		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78363064	78363064	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78363064C>T	uc002jyh.2	+	65	15382	c.15239C>T	c.(15238-15240)aCt>aTt	p.T5080I	RNF213_uc021uen.1_Missense_Mutation_p.T5031I|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_Missense_Mutation_p.T48I	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTAGAAGTCACTCTGGGGTTT	0.517000														114			13		0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616966	79616966	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79616966G>A	uc011ctk.1	-	0		c.693C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.S311N			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAGAAACTGAGCCATGACACC	0.433000														121			26		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121743937	121743937	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121743937C>T	uc010flp.3	+	11	2070	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	GLI2_uc002tmq.1_Silent_p.G352G|GLI2_uc002tmr.1_Silent_p.G335G|GLI2_uc002tmt.4_Silent_p.G352G|GLI2_uc002tmu.4_Silent_p.G335G|GLI2_uc002tmw.1_Silent_p.G663G	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	680					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ATGACAGTGGCGTGGAGATGC	0.711000														154			11		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73450209	73450209	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73450209A>G	uc002siw.2	+	7	780	c.751A>G	c.(751-753)Acc>Gcc	p.T251A	SMYD5_uc010yre.1_Missense_Mutation_p.T135A	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	251	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCTTGTTGGGACCAATGGCCA	0.483000														211			74		0	0	1	0	0
RRAGD	58528	broad.mit.edu	37	6	90097100	90097100	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90097100C>A	uc003pnd.4	-	1	641	c.358G>T	c.(358-360)Gga>Tga	p.G120*	RRAGD_uc010kcc.3_Intron	NM_021244	NP_067067	Q9NQL2	RRAGD_HUMAN	Homo sapiens Ras-related GTP binding D (RRAGD), mRNA.	120					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity	p.P119Q(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		TCAATCTGTCCTGGGAAGTCC	0.433000														246			58		5.22555e-25	6.50524e-25	1	1	0
TMEM19	55266	broad.mit.edu	37	12	72083392	72083392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72083392C>T	uc001sws.3	+	1	735	c.152C>T	c.(151-153)cCg>cTg	p.P51L	TMEM19_uc001swr.1_Missense_Mutation_p.P37L	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	51						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CCTATTTCTCCGTGGCGTTGG	0.413000														112			22		0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2139202	2139202	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2139202G>A	uc004cqf.4	-	6	922	c.873C>T	c.(871-873)ggC>ggT	p.G291G		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	291							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				ATAGGTAATGGCCACCAACTC	0.532000														119			50		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2143020	2143020	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2143020G>A	uc002cos.1	-	37	11300	c.11091C>T	c.(11089-11091)caC>caT	p.H3697H	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.H3696H|MIR1225_uc021tap.1_5'Flank|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3697					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GACGGTAGGCGTGCCCATGGC	0.642000														362			20		0	0	1	0	0
SETD6	79918	broad.mit.edu	37	16	58550529	58550529	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58550529C>A	uc002ens.3	+	3	683	c.624C>A	c.(622-624)cgC>cgA	p.R208R	SETD6_uc010cdl.2_Silent_p.R208R|SETD6_uc021tjh.1_3'UTR|SETD6_uc002enr.3_Silent_p.R184R|SETD6_uc010cdm.3_Non-coding_Transcript|SETD6_uc010vij.1_Silent_p.R132R	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	208	SET.				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						TCAGGGTTCGCTCCCTAGAAC	0.567000														83			19		5.35267e-07	5.74308e-07	1	1	0
TAPT1	202018	broad.mit.edu	37	4	16192999	16192999	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:16192999G>T	uc010ied.1	-	3	678	c.597C>A	c.(595-597)atC>atA	p.I199I	TAPT1_uc011bxd.1_Non-coding_Transcript|TAPT1_uc011bxe.1_Silent_p.I88I|TAPT1_uc003gow.4_3'UTR	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	199						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GCATGTTGTAGATGATGTAGA	0.483000														10			3		0.00024832	0.000256435	1	1	0
ALPK3	57538	broad.mit.edu	37	15	85407773	85407773	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85407773G>A	uc002ble.3	+	11	5373	c.5206G>A	c.(5206-5208)Gaa>Aaa	p.E1736K	ALPK3_uc010upc.2_Missense_Mutation_p.E37K	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1736	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.R1735L(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTGTTCTCGGGAATGGGGCTG	0.547000														127			30		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16694613	16694613	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16694613C>T	uc003jft.4	-	26	4135	c.3667G>A	c.(3667-3669)Ggg>Agg	p.G1223R	MYO10_uc011cnc.2_Missense_Mutation_p.G102R|MYO10_uc011cnd.2_Missense_Mutation_p.G580R|MYO10_uc011cne.2_Missense_Mutation_p.G580R|MYO10_uc010itx.3_Missense_Mutation_p.G846R	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1223	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.G1223R(10)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GAGCCCCCCCCTTTTTTGTGG	0.557000														203			36		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60642396	60642396	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60642396G>T	uc010ddp.3	+	10	1134	c.866G>T	c.(865-867)aGc>aTc	p.S289I	TLK2_uc002izx.4_Missense_Mutation_p.S137I|TLK2_uc002izz.4_Missense_Mutation_p.S289I|TLK2_uc002jaa.4_Missense_Mutation_p.S257I|TLK2_uc010wpd.2_Missense_Mutation_p.S257I	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	289					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						AGAGATAAGAGCATGCAAGAC	0.413000														61			22		3.62473e-10	4.06567e-10	1	1	0
SPATA22	84690	broad.mit.edu	37	17	3343532	3343532	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3343532G>A	uc002fvm.3	-	8	1239	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SPATA22_uc010vrg.2_Missense_Mutation_p.A318V|SPATA22_uc010vrf.2_3'UTR|SPATA22_uc002fvo.3_Missense_Mutation_p.A334V|SPATA22_uc002fvn.3_Missense_Mutation_p.A334V|SPATA22_uc002fvp.3_Missense_Mutation_p.A334V|SPATA22_uc010ckf.3_Missense_Mutation_p.A291V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	334										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						AGAAACAGACGCCGGTCTGAC	0.378000														95			11		0	0	1	0	0
RSC1A1	6248	broad.mit.edu	37	1	15986601	15986601	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15986601C>T	uc010obn.2	+	0	238	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	DDI2_uc001awx.2_3'UTR|RSC1A1_uc009voj.2_Missense_Mutation_p.H80Y	NM_006511	NP_006502	Q92681	RSCA1_HUMAN	Homo sapiens regulatory solute carrier protein, family 1, member 1 (RSC1A1), mRNA.	80					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	Golgi apparatus|cell junction|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTTCTGATCATGCTTCCTC	0.423000														230			11		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61295552	61295552	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61295552T>C	uc001nrv.3	-	4	509	c.457A>G	c.(457-459)Acc>Gcc	p.T153A	SYT7_uc009ynr.3_Missense_Mutation_p.T228A	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	153	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATCTTCACGGTGAGCGTGGAC	0.617000														220			17		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19144199	19144199	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19144199C>A	uc002kth.1	-	6	2720	c.1786G>T	c.(1786-1788)Gaa>Taa	p.E596*	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	596					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTCTCTGCTTCTTTTAGTTTC	0.313000														17			3		0.115264	0.115636	1	1	0
TPSD1	23430	broad.mit.edu	37	16	1306840	1306840	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1306840G>A	uc002clb.1	+	2	306	c.297G>A	c.(295-297)gaG>gaA	p.E99E	TPSD1_uc010brm.1_Silent_p.E28E	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	99	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				AACTGCGGGAGCAGCACCTCT	0.667000														79			16		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100017440	100017440	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100017440C>T	uc003uut.3	-	3	343	c.95G>A	c.(94-96)tGt>tAt	p.C32Y	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.C31Y|ZCWPW1_uc003uuu.1_Missense_Mutation_p.C31Y|ZCWPW1_uc011kjt.1_Missense_Mutation_p.C31Y|ZCWPW1_uc011kju.1_Missense_Mutation_p.C31Y	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	32							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTTAGGGCTACAAGGTAACAG	0.468000														118			8		0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40522271	40522271	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:40522271C>T	uc004dex.4	-	25	3730	c.3590G>A	c.(3589-3591)gGc>gAc	p.G1197D	MED14_uc004dey.1_Missense_Mutation_p.G99D	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	1197					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTGCCAGGCCGGGCACAAG	0.498000														54			15		0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248636985	248636985	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248636985C>A	uc001iel.1	+	0	334	c.334C>A	c.(334-336)Ctg>Atg	p.L112M		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)			CTACCTGACCCTGGCTGGAGC	0.552000														176			24		9.57634e-11	1.08211e-10	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60503706	60503706	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60503706A>C	uc002izv.2	+	2	267	c.249A>C	c.(247-249)aaA>aaC	p.K83N	METTL2A_uc002izw.3_5'UTR	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	83							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			ACTTCTACAAAATCCACGAAA	0.338000														58			18		0	0	1	0	0
MOK	5891	broad.mit.edu	37	14	102695660	102695660	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102695660C>T	uc001ylm.3	-	11	1452	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	MOK_uc010txv.2_Missense_Mutation_p.R379H|MOK_uc001yln.3_Missense_Mutation_p.R227H|MOK_uc001ylh.3_Intron|MOK_uc001ylj.3_Non-coding_Transcript|MOK_uc001ylk.3_Non-coding_Transcript|MOK_uc001yll.3_Non-coding_Transcript	NM_014226	NP_055041	Q9UQ07	MOK_HUMAN	Homo sapiens MOK protein kinase (MOK), mRNA.	409					signal transduction	Golgi apparatus	ATP binding|cyclin-dependent protein kinase activity|protein binding	p.R409H(1)									GGTGGGCAGGCGACACTGCTG	0.582000														113			25		0	0	1	0	0
SPATA2L	124044	broad.mit.edu	37	16	89764461	89764461	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89764461G>A	uc002foj.3	-	2	643	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPATA2L_uc002fok.3_Intron	NM_152339	NP_689552	Q8IUW3	SPA2L_HUMAN	Homo sapiens spermatogenesis associated 2-like (SPATA2L), mRNA.	186								p.A185T(1)		breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		CTGGCACGCCGTGCCTGCAGC	0.726000														88			16		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10794144	10794144	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10794144C>T	uc002mpn.3	+	14	2094	c.1777C>T	c.(1777-1779)Cct>Tct	p.P593S	ILF3_uc010xli.1_Missense_Mutation_p.P191S|ILF3_uc002mpm.2_Missense_Mutation_p.P597S|ILF3_uc002mpl.2_Missense_Mutation_p.P593S|ILF3_uc002mpk.2_Missense_Mutation_p.P593S|ILF3_uc002mpo.3_Missense_Mutation_p.P597S|ILF3_uc002mpp.3_Missense_Mutation_p.P418S|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	593					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CCCTGACACCCCTCTCGCCCT	0.542000														155			12		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692758	48692758	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48692758G>A	uc002irk.1	+	26	5168	c.4796G>A	c.(4795-4797)cGc>cAc	p.R1599H	CACNA1G_uc002irj.1_Missense_Mutation_p.R1565H|CACNA1G_uc002irl.1_Missense_Mutation_p.R1576H|CACNA1G_uc002irm.1_Missense_Mutation_p.R1565H|CACNA1G_uc002irn.1_Missense_Mutation_p.R1558H|CACNA1G_uc002iro.1_Missense_Mutation_p.R1565H|CACNA1G_uc002irp.1_Missense_Mutation_p.R1599H|CACNA1G_uc002irq.1_Missense_Mutation_p.R1576H|CACNA1G_uc002irr.1_Missense_Mutation_p.R1599H|CACNA1G_uc002irs.1_Missense_Mutation_p.R1588H|CACNA1G_uc002irt.1_Missense_Mutation_p.R1581H|CACNA1G_uc002iru.1_Missense_Mutation_p.R1565H|CACNA1G_uc002irv.1_Missense_Mutation_p.R1588H|CACNA1G_uc002irw.1_Missense_Mutation_p.R1576H|CACNA1G_uc002irx.1_Missense_Mutation_p.R1512H|CACNA1G_uc002iry.1_Missense_Mutation_p.R1501H|CACNA1G_uc002isg.1_Missense_Mutation_p.R1460H|CACNA1G_uc002ish.1_Missense_Mutation_p.R1467H|CACNA1G_uc002isi.1_Missense_Mutation_p.R1455H|CACNA1G_uc002irz.1_Missense_Mutation_p.R1512H|CACNA1G_uc002isa.1_Missense_Mutation_p.R1478H|CACNA1G_uc002isd.1_Missense_Mutation_p.R1494H|CACNA1G_uc002isb.1_Missense_Mutation_p.R1519H|CACNA1G_uc002isc.1_Missense_Mutation_p.R1501H|CACNA1G_uc002ise.1_Missense_Mutation_p.R1467H|CACNA1G_uc002isf.1_Missense_Mutation_p.R1494H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1599					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GACTACTCCCGCTTCCGGCTC	0.632000														88			20		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920607	4920607	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4920607G>A	uc001qng.3	+	0	2266	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q	KCNA6_uc021qtr.1_Missense_Mutation_p.R467Q	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	467						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						TTCTACCACCGGGAGACGGAG	0.617000										HNSCC(72;0.22)				165			27		0	0	1	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57457546	57457546	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57457546G>A	uc001nkx.1	+	4	1684	c.428G>A	c.(427-429)cGc>cAc	p.R143H	ZDHHC5_uc001nky.1_Missense_Mutation_p.R90H|ZDHHC5_uc001nkz.1_5'UTR	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	143						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TGTATTGGTCGCCGGAACTAC	0.458000														198			36		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192856	52192856	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52192856C>T	uc002xwq.4	-	2	2789	c.2447G>A	c.(2446-2448)aGt>aAt	p.S816N	ZNF217_uc010gij.1_Missense_Mutation_p.S808N	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	816					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CTTCAGGTTACTTGGGGCTAA	0.567000														170			39		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				35			4		0	0	1	0	0
SMC1B	27127	broad.mit.edu	37	22	45767427	45767427	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45767427G>A	uc003bgc.3	-	13	2289	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	SMC1B_uc003bgd.3_Missense_Mutation_p.S746F|SMC1B_uc003bge.1_Missense_Mutation_p.S529F	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	746					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AATACATTGAGACTCAATATT	0.289000														41			12		0	0	1	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241517075	241517075	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241517075C>A	uc002vzi.3	+	10	1944	c.1251C>A	c.(1249-1251)tcC>tcA	p.S417S	RNPEPL1_uc002vzj.3_Silent_p.S65S	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	417					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCCTCAAGTCCTTCGCGCTGG	0.657000														75			32		1.26612e-14	1.49017e-14	1	1	0
CEP120	153241	broad.mit.edu	37	5	122734865	122734865	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122734865A>C	uc003ktk.3	-	5	693	c.577T>G	c.(577-579)Tca>Gca	p.S193A	CEP120_uc010jcz.2_Missense_Mutation_p.S167A|CEP120_uc011cwq.2_Missense_Mutation_p.S2A	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	193						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						ATGGTCACTGACATAATAAAG	0.428000														89			17		0	0	1	0	0
WDR89	112840	broad.mit.edu	37	14	64066119	64066119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64066119C>T	uc021ruf.1	-	0	542	c.542G>A	c.(541-543)aGc>aAc	p.S181N	WDR89_uc001xgh.3_Missense_Mutation_p.S181N|WDR89_uc001xgi.3_Missense_Mutation_p.S181N	NM_080666	NP_542397	Q96FK6	WDR89_HUMAN	Homo sapiens WD repeat domain 89 (WDR89), transcript variant 2, mRNA.	181										endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.00543)|all cancers(60;0.0181)|BRCA - Breast invasive adenocarcinoma(234;0.101)		GTTGGGATTGCTGGGATGGAA	0.393000														105			20		0	0	1	0	0
DDX50	79009	broad.mit.edu	37	10	70673194	70673194	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70673194C>T	uc001jou.3	+	5	912	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	DDX50_uc001jot.3_Missense_Mutation_p.R269C	NM_024045	NP_076950	Q9BQ39	DDX50_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA.	269	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						AACACCTGGTCGTATCAAAGA	0.388000														102			30		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44661008	44661008	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44661008G>T	uc002oym.3	+	5	1146	c.839G>T	c.(838-840)aGa>aTa	p.R280I	ZNF234_uc002oyl.4_Missense_Mutation_p.R280I	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAACATCAGAGAATTCATACT	0.418000														160			44		1.57019e-19	1.90796e-19	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43935567	43935567	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43935567A>C	uc001uza.4	-	5	530	c.230T>G	c.(229-231)tTt>tGt	p.F77C	ENOX1_uc001uzc.4_Missense_Mutation_p.F77C|ENOX1_uc001uzb.4_Missense_Mutation_p.F77C|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	77					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GCTTGGATCAAAGCCTGGGAC	0.433000														90			15		0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7831659	7831659	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7831659C>T	uc010dvt.3	+	4	1020	c.902C>T	c.(901-903)gCc>gTc	p.A301V	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.A278V|CLEC4M_uc010xjw.2_Missense_Mutation_p.A234V|CLEC4M_uc010dvs.3_Missense_Mutation_p.A277V|CLEC4M_uc010xjx.2_Missense_Mutation_p.A250V|CLEC4M_uc002mhz.3_Missense_Mutation_p.A209V|CLEC4M_uc002mic.3_Missense_Mutation_p.A273V|CLEC4M_uc002mia.3_Missense_Mutation_p.A165V	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	301	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GAAGTGAGGGCCCAGCTCGTC	0.592000														152			45		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105198541	105198541	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105198541T>C	uc001kwy.1	+	26	4088	c.4001T>C	c.(4000-4002)aTc>aCc	p.I1334T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1334	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTAGGGTCCATCCAGCCACAC	0.552000														137			18		0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109026937	109026937	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:109026937C>A	uc003dxo.3	-	5	847	c.600G>T	c.(598-600)aaG>aaT	p.K200N		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	200						nucleus	nucleic acid binding	p.K200K(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATTCAAAGCCTTAGGCTGAA	0.463000														80			22		2.70639e-06	2.8733e-06	1	1	0
GAD1	2571	broad.mit.edu	37	2	171675171	171675171	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171675171C>A	uc002ugi.3	+	1	492	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	GAD1_uc002ugh.3_Missense_Mutation_p.L24M	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	24					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACCACTAACCTGCGCCCCAC	0.622000														192			59		1.38909e-20	1.6972e-20	1	1	0
DEGS1	8560	broad.mit.edu	37	1	224380108	224380108	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:224380108T>G	uc001hoj.3	+	2	1029	c.900T>G	c.(898-900)ttT>ttG	p.F300L		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	300					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		TGTATGATTTTGTGATGGATG	0.388000														46			18		0	0	1	0	0
TPD52L2	7165	broad.mit.edu	37	20	62514152	62514152	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62514152G>A	uc002ygy.3	+	4	593	c.455G>A	c.(454-456)aGc>aAc	p.S152N	TPD52L2_uc021wgf.1_Intron|TPD52L2_uc021wgg.1_Missense_Mutation_p.S152N|TPD52L2_uc011abk.2_Missense_Mutation_p.S103N|TPD52L2_uc002ygz.3_Missense_Mutation_p.S152N|TPD52L2_uc002yha.3_Missense_Mutation_p.S132N|TPD52L2_uc002yhb.3_Missense_Mutation_p.S132N|TPD52L2_uc011abl.2_Missense_Mutation_p.S109N|TPD52L2_uc002yhc.3_Missense_Mutation_p.S152N|TPD52L2_uc002yhd.3_Missense_Mutation_p.S132N|TPD52L2_uc021wgh.1_Missense_Mutation_p.A142T|TPD52L2_uc021wgi.1_Missense_Mutation_p.S127N	NM_199360	NP_955392	O43399	TPD54_HUMAN	Homo sapiens tumor protein D52-like 2 (TPD52L2), transcript variant 1, mRNA.	152					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCTGCCATCAGCAGGAAGCTT	0.552000														72			18		0	0	1	0	0
C19orf12	83636	broad.mit.edu	37	19	30199248	30199248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30199248C>T	uc002nsj.3	-	1	233	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	C19orf12_uc002nsk.3_Missense_Mutation_p.V25I|C19orf12_uc002nsl.3_Intron|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	25						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GAGTGCTTGACAGCCGCCTTC	0.617000														188			56		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134188732	134188732	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188732C>T	uc010quw.1	+	10	1774	c.1579C>T	c.(1579-1581)Cgc>Tgc	p.R527C	LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.R527C|LRRC27_uc001llj.2_Missense_Mutation_p.R465C	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	527										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAAATGTTCGCAGATACCA	0.552000														91			18		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111476	7111476	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111476C>T	uc001mfc.2	+	0	1312	c.1125C>T	c.(1123-1125)ggC>ggT	p.G375G		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	375	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCCCAGGGGCGGAGGCCGTC	0.602000														42			9		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141113963	141113963	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141113963G>T	uc002tvj.1	-	74	12450	c.11478C>A	c.(11476-11478)ttC>ttA	p.F3826L		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3826	EGF-like 8.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TACAGCGACAGAAAACAGATG	0.343000										TSP Lung(27;0.18)				70			29		3.73988e-18	4.50785e-18	1	1	0
ZNF460	10794	broad.mit.edu	37	19	57802170	57802170	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57802170C>A	uc002qog.2	+	2	583	c.261C>A	c.(259-261)taC>taA	p.Y87*	ZNF460_uc010ygv.1_Nonsense_Mutation_p.Y46*	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	87	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCAAGATACTCCTATTTGG	0.522000														120			33		9.93527e-08	1.07855e-07	1	1	0
AMOTL2	51421	broad.mit.edu	37	3	134084677	134084677	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134084677C>T	uc003eqf.2	-	4	1552	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	AMOTL2_uc003eqg.1_Missense_Mutation_p.A421T|AMOTL2_uc003eqh.1_Missense_Mutation_p.A421T|AMOTL2_uc003eqe.1_Missense_Mutation_p.A46T	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	421										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						AGCAGCTTGGCCACCATGTCC	0.567000														175			35		0	0	1	0	0
C7orf53	286006	broad.mit.edu	37	7	112129971	112129971	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112129971C>T	uc011kmq.2	+	3	498	c.363C>T	c.(361-363)aaC>aaT	p.N121N	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Silent_p.N121N	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	121						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						AGCGACTCAACCAACTCAACC	0.398000														189			41		0	0	1	0	0
CLMP	79827	broad.mit.edu	37	11	122944425	122944425	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122944425G>A	uc001pyt.3	-	6	1238	c.879C>T	c.(877-879)ggC>ggT	p.G293G		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	293	Ser-rich.					integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						AGCTCCGAGAGCCTGAGGAAG	0.542000														217			40		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18215253	18215253	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18215253C>A	uc003nco.1	+	12	1591	c.1516C>A	c.(1516-1518)Ctg>Atg	p.L506M	KDM1B_uc003ncn.1_Missense_Mutation_p.L477M|KDM1B_uc003ncp.1_Missense_Mutation_p.L62M|KDM1B_uc003ncq.1_Missense_Mutation_p.L62M	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	709					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GCACAGCGTGCTGATGTCTGT	0.527000														119			23		7.92952e-12	9.07913e-12	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130409168	130409168	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130409168C>A	uc004ewe.4	-	16	3575	c.3292G>T	c.(3292-3294)Gac>Tac	p.D1098Y	IGSF1_uc004ewd.3_Missense_Mutation_p.D1093Y|IGSF1_uc022cdv.1_Missense_Mutation_p.D1084Y|IGSF1_uc004ewf.2_Missense_Mutation_p.D1073Y	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1093	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AATGTTGAGTCTGGCAGTTCC	0.557000														276			81		4.8811e-34	6.17113e-34	1	1	0
PPP1R3B	79660	broad.mit.edu	37	8	8998463	8998463	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8998463G>T	uc022arp.1	-	0	699	c.699C>A	c.(697-699)atC>atA	p.I233I	PPP1R3B_uc003wsn.4_Silent_p.I233I|PPP1R3B_uc003wso.4_Silent_p.I233I	NM_024607	NP_078883	Q86XI6	PPR3B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3B (PPP1R3B), transcript variant 2, mRNA.	233	CBM21.				glycogen metabolic process					endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	12				COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241)		ACTCAGCCCGGATGATCCTAT	0.483000														120			26		1.64293e-13	1.91604e-13	1	1	0
TUBAL3	79861	broad.mit.edu	37	10	5435806	5435806	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5435806T>G	uc001ihy.3	-	3	1053	c.1015A>C	c.(1015-1017)Atc>Ctc	p.I339L	TUBAL3_uc001ihz.3_Missense_Mutation_p.I299L	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTGGCTGCGATTGCTGCATTC	0.557000														91			18		0	0	1	0	0
CLEC12A	160364	broad.mit.edu	37	12	10134657	10134657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10134657G>A	uc001qwq.3	+	5	631	c.600G>A	c.(598-600)tgG>tgA	p.W200*	CLEC12A_uc001qwr.4_Nonsense_Mutation_p.W190*|CLEC12A_uc001qws.4_Nonsense_Mutation_p.W157*|CLEC12A_uc001qwt.3_Nonsense_Mutation_p.W119*	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	190	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						ATGACTATTGGCTGGGATTAT	0.338000														34			8		0	0	1	0	0
MAST3	23031	broad.mit.edu	37	19	18249857	18249857	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18249857G>A	uc002nhz.4	+	18	2041	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	681	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCTGGGCTCCGAGGACGACGA	0.617000														12			4		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100420043	100420043	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420043C>T	uc003uwn.1	-	3	1149	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	EPHB4_uc003uwm.1_Missense_Mutation_p.A127T|EPHB4_uc010lhj.1_Missense_Mutation_p.A220T|EPHB4_uc011kkf.1_Missense_Mutation_p.A220T|EPHB4_uc011kkg.1_Missense_Mutation_p.A220T|EPHB4_uc011kkh.1_Missense_Mutation_p.A220T	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	220	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CAGCTACCGGCCACGGGCACA	0.662000														33			10		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40817021	40817021	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40817021C>T	uc003ayv.1	-	6	918	c.711G>A	c.(709-711)aaG>aaA	p.K237K	MKL1_uc010gyf.1_Silent_p.K187K|MKL1_uc003ayw.1_Silent_p.K237K|MKL1_uc010gye.1_Silent_p.K237K	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	237	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACTGGTGGTACTTGAGCTTCT	0.592000			T	RBM15	acute megakaryocytic leukemia									136			30		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46264680	46264680	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46264680G>T	uc002xtk.3	+	11	1811	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	NCOA3_uc002xtl.3_Missense_Mutation_p.S517I|NCOA3_uc002xtn.3_Missense_Mutation_p.S517I|NCOA3_uc010ght.2_Missense_Mutation_p.S527I|NCOA3_uc002xtm.3_Missense_Mutation_p.S517I|NCOA3_uc010zyc.2_Missense_Mutation_p.S312I	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	517	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGGAACCACAGCTTTTCCAGC	0.453000														104			21		2.89027e-11	3.28353e-11	1	1	0
DIAPH1	1729	broad.mit.edu	37	5	140913993	140913993	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140913993C>A	uc003llb.4	-	18	2631	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	DIAPH1_uc003llc.4_Missense_Mutation_p.K821N|DIAPH1_uc021yep.1_Missense_Mutation_p.K830N|DIAPH1_uc021yeq.1_Missense_Mutation_p.K821N|DIAPH1_uc010jgc.1_Missense_Mutation_p.K266N	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	830	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTTGATCCTTCTTGGCTA	0.413000														50			13		4.3838e-07	4.70703e-07	1	1	0
LRCH1	23143	broad.mit.edu	37	13	47255891	47255891	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47255891G>A	uc001vbk.3	+	3	831	c.595G>A	c.(595-597)Gag>Aag	p.E199K	LRCH1_uc010acp.2_Missense_Mutation_p.E199K|LRCH1_uc001vbj.3_Missense_Mutation_p.E199K|LRCH1_uc001vbl.4_Missense_Mutation_p.E199K	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	199										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGCAACGAGATCACAGC	0.368000														41			9		0	0	1	0	0
CCDC36	339834	broad.mit.edu	37	3	49293689	49293689	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49293689C>T	uc003cwk.2	+	9	1146	c.759C>T	c.(757-759)gtC>gtT	p.V253V	CCDC36_uc011bck.1_Silent_p.V253V	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	253										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TGCCCAGTGTCCTAGCAGAGC	0.532000														129			43		0	0	1	0	0
KHNYN	23351	broad.mit.edu	37	14	24901383	24901383	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24901383G>A	uc010tpc.2	+	2	1055	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	KHNYN_uc001wph.4_Missense_Mutation_p.A306T|KHNYN_uc010alw.3_Missense_Mutation_p.A306T|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	306										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GAAAGGGAAGGCCCTGGGGAA	0.647000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		69			24		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064336	30064336	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30064336C>A	uc002wwa.3	+	1	372	c.88C>A	c.(88-90)Cct>Act	p.P30T		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	30					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GGGCCACCAGCCTGGCCGCCT	0.657000														242			28		2.12542e-12	2.45163e-12	1	1	0
AZGP1	563	broad.mit.edu	37	7	99564826	99564826	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99564826C>A	uc003ush.3	-	3	789	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	233	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	MHC class I protein complex|extracellular region	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCAATTTTCCCTGGGTAGAAG	0.557000														65			10		0.000673444	0.000690401	1	1	0
TSPYL5	85453	broad.mit.edu	37	8	98289747	98289747	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98289747G>A	uc003yhy.3	-	0	430	c.326C>T	c.(325-327)gCc>gTc	p.A109V		NM_033512	NP_277047	Q86VY4	TSYL5_HUMAN	Homo sapiens TSPY-like 5 (TSPYL5), mRNA.	109					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GAGAGATGCGGCCTTCCCCGG	0.741000														46			13		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39357242	39357242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39357242G>A	uc001uwv.3	+	4	5986	c.5677G>A	c.(5677-5679)Gtt>Att	p.V1893I	FREM2_uc001uww.3_5'UTR	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1893	Calx-beta 2.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1893I(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAAATACTCCGTTGAAGAAGA	0.438000														148			36		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844520	75844520	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844520C>A	uc021zbv.1	-	30	5481	c.5446G>T	c.(5446-5448)Gac>Tac	p.D1816Y	COL12A1_uc021zbw.1_Missense_Mutation_p.D652Y|COL12A1_uc003phs.3_Missense_Mutation_p.D1816Y|COL12A1_uc003pht.3_Missense_Mutation_p.D652Y	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1816	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAAGGAGTGTCTGGCTTCAGT	0.498000														93			17		4.7546e-09	5.25358e-09	1	1	0
LINC00478	388815	broad.mit.edu	37	21	17603377	17603377	+	Splice_Site	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17603377T>A	uc002ykb.2	+	4		c.410_splice	c.e4-1		LINC00478_uc010glc.2_Splice_Site|LINC00478_uc002ykc.2_Splice_Site					Homo sapiens long intergenic non-protein coding RNA 478 (LINC00478), transcript variant 1, non-coding RNA.																		ATTTTTCAGATCTTCAGGAAT	0.269000														47			11		0	0	1	0	0
PLEKHA8	84725	broad.mit.edu	37	7	30100541	30100541	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30100541C>A	uc003taq.3	+	9	1483	c.1081C>A	c.(1081-1083)Ctt>Att	p.L361I	PLEKHA8_uc022aba.1_Missense_Mutation_p.L361I|PLEKHA8_uc003tan.3_Missense_Mutation_p.L361I	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	361				MDLVGNI -> DGSCWKY (in Ref. 4; AAG48267).	protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TAAGATGGATCTTGTTGGAAA	0.323000														74			14		4.75885e-15	5.61893e-15	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525729	150525729	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525729G>T	uc009wlw.3	+	4	592	c.434_splice	c.e4+1	p.R145_splice	ADAMTSL4_uc001euw.3_Splice_Site_p.R145_splice|ADAMTSL4_uc001eux.3_Splice_Site_p.R145_splice|ADAMTSL4_uc010pcg.2_Splice_Site_p.R145_splice	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	145					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCGGCCAGGAGGTGAGAGGCC	0.632000														115			16		2.31682e-05	2.42268e-05	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35705130	35705130	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705130G>A	uc003ola.3	+	1	271	c.244_splice	c.e1+1	p.G82_splice	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Intron	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	55							binding										GGGCCCAAAGGTGATGCCTCC	0.622000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			15		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51223034	51223034	+	Silent	SNP	G	A	A	rs146147470	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51223034G>A	uc001zyx.2	+	6	842	c.735G>A	c.(733-735)ggG>ggA	p.G245G	AP4E1_uc021skz.1_Silent_p.G170G|AP4E1_uc010ufi.2_Silent_p.G245G|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	245					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ACTTGACTGGGAGTTTTGTAA	0.368000														125			26		0	0	1	0	0
ADHFE1	137872	broad.mit.edu	37	8	67356848	67356848	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67356848C>T	uc003xwb.4	+	4	252	c.218C>T	c.(217-219)gCt>gTt	p.A73V	ADHFE1_uc003xwd.4_Non-coding_Transcript|ADHFE1_uc003xwc.4_Missense_Mutation_p.A25V|ADHFE1_uc003xwe.4_Non-coding_Transcript|ADHFE1_uc003xwf.4_Non-coding_Transcript|ADHFE1_uc011les.2_Missense_Mutation_p.A3V|ADHFE1_uc011leq.1_Non-coding_Transcript|ADHFE1_uc011ler.1_Non-coding_Transcript	NM_144650	NP_653251	Q8IWW8	HOT_HUMAN	Homo sapiens alcohol dehydrogenase, iron containing, 1 (ADHFE1), nuclear gene encoding mitochondrial protein, mRNA.	73					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			AACATGGGTGCTAAAAATGTG	0.423000														189			45		0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37382434	37382434	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382434C>T	uc021utr.1	-	5	1569	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Missense_Mutation_p.R420H	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGGTCAGAGCGACTACCAAA	0.373000														108			26		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229864	8229864	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229864G>T	uc003gkv.4	+	11	2544	c.2443G>T	c.(2443-2445)Gcc>Tcc	p.A815S	SH3TC1_uc003gkw.4_Missense_Mutation_p.A739S|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	815							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GGCAGTGGAAGCCAGTGCTAT	0.677000														82			15		1.3612e-06	1.45125e-06	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190148	58190148	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58190148G>T	uc002qpu.3	+	4	1874	c.1177G>T	c.(1177-1179)Gaa>Taa	p.E393*		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	393					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G392V(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACAGGAGAAAAGCCTTA	0.453000														211			41		1.15183e-24	1.43276e-24	1	1	0
RALGAPA1	253959	broad.mit.edu	37	14	36154173	36154173	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36154173G>T	uc001wtj.3	-	18	3129	c.2738C>A	c.(2737-2739)tCt>tAt	p.S913Y	RALGAPA1_uc001wti.3_Missense_Mutation_p.S913Y|RALGAPA1_uc010tpv.2_Missense_Mutation_p.S926Y|RALGAPA1_uc010tpw.1_Missense_Mutation_p.S960Y|RALGAPA1_uc001wtk.1_Missense_Mutation_p.S811Y	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	913					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCGCTGAAAGAATCCGAATG	0.433000														43			10		4.3838e-07	4.70703e-07	1	1	0
SIN3A	25942	broad.mit.edu	37	15	75684615	75684615	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684615C>A	uc002bai.3	-	14	3078	c.2819G>T	c.(2818-2820)aGc>aTc	p.S940I	SIN3A_uc002baj.3_Missense_Mutation_p.S940I|SIN3A_uc010uml.2_Missense_Mutation_p.S940I	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	940					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGGCAGGGCTGTCACTCTT	0.502000														203			66		4.14589e-37	5.26027e-37	1	1	0
GAS2L3	283431	broad.mit.edu	37	12	101017514	101017514	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017514A>C	uc001thu.3	+	9	1157	c.931A>C	c.(931-933)Aca>Cca	p.T311P	GAS2L3_uc009zty.3_Missense_Mutation_p.T311P|GAS2L3_uc001thv.3_Missense_Mutation_p.T207P	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	311					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTGCCAGAACACCTCAGCC	0.383000														105			10		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105761972	105761972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105761972G>A	uc001kxo.1	+	8	1070	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	SLK_uc001kxp.1_Missense_Mutation_p.A346T	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	346	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTAGTATCGCCAGCTCTGA	0.353000														142			23		0	0	1	0	0
C3orf15	89876	broad.mit.edu	37	3	119427480	119427480	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119427480T>G	uc003ede.4	+	3	479	c.402T>G	c.(400-402)gaT>gaG	p.D134E	C3orf15_uc010hqx.1_Missense_Mutation_p.D134E|C3orf15_uc003edc.2_Missense_Mutation_p.D134E|C3orf15_uc010hqy.2_Missense_Mutation_p.D134E|C3orf15_uc010hqz.3_Missense_Mutation_p.D72E|C3orf15_uc011bjd.2_Missense_Mutation_p.D8E|C3orf15_uc011bje.2_Missense_Mutation_p.D114E|C3orf15_uc010hra.2_5'UTR	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	134						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		TTTATGAAGATCCTGAAGTTA	0.289000														59			5		0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122677157	122677157	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122677157C>A	uc001pyi.4	+	11	1995	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	545	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TTTCAGAATCCTATGATACTT	0.299000														69			4		0.150653	0.151008	1	1	0
C7orf25	79020	broad.mit.edu	37	7	42949837	42949837	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949837C>T	uc003thx.4	-	1	1322	c.837G>A	c.(835-837)caG>caA	p.Q279Q	C7orf25_uc010kxq.3_Silent_p.Q221Q|C7orf25_uc010kxr.3_Silent_p.Q279Q|C7orf25_uc022ace.1_Silent_p.Q221Q	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	221										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CTCTGGTCACCTGCAAAAGTT	0.433000														105			27		0	0	1	0	0
C12orf4	57102	broad.mit.edu	37	12	4634664	4634664	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4634664A>C	uc001qms.3	-	4	680	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	C12orf4_uc001qmt.3_Missense_Mutation_p.F198V	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	198										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TGGGATTCAAAATGCTGAGCA	0.318000														81			10		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731922	94731922	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731922T>G	uc021qow.1	+	0	1386	c.1386T>G	c.(1384-1386)gcT>gcG	p.A462A	KDM4D_uc001pfe.3_Silent_p.A462A	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	462					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AACTGAGAGCTCAGGAGCTGA	0.607000														151			44		0	0	1	0	0
P2RX2	22953	broad.mit.edu	37	12	133196281	133196281	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133196281G>T	uc001ukk.1	+	2	326	c.326G>T	c.(325-327)aGc>aTc	p.S109I	P2RX2_uc001uki.1_Missense_Mutation_p.S109I|P2RX2_uc001ukj.1_Missense_Mutation_p.S109I|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.S109I|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	109					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCGTGTTCAGCATCATCACC	0.741000														99			22		7.87624e-14	9.21814e-14	1	1	0
ZNF155	7711	broad.mit.edu	37	19	44501451	44501451	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44501451A>C	uc010xwt.1	+	5	1659	c.1475A>C	c.(1474-1476)aAa>aCa	p.K492T	ZNF155_uc002oxy.1_Missense_Mutation_p.K481T|ZNF155_uc002oxz.1_Missense_Mutation_p.K481T	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				CACTGCCAGAAAAAACCATTC	0.453000														176			46		0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138392846	138392846	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138392846G>A	uc004cfv.4	+	1	120	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	C9orf116_uc004cfs.1_5'Flank|C9orf116_uc004cft.1_5'Flank|C9orf116_uc004cfu.1_5'Flank	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	16					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCCCCCAGGTGCCCGGGCCCC	0.716000														74			17		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15364970	15364970	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15364970G>A	uc002nar.3	-	10	2373	c.2151C>T	c.(2149-2151)tcC>tcT	p.S717S	BRD4_uc002nas.3_Silent_p.S717S|BRD4_uc002nat.3_Silent_p.S717S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	717	Ser-rich.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AACCTGTTTCGGAGTCTTCGC	0.542000			T	C15orf55	lethal midline carcinoma of young people									65			6		0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30749384	30749384	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30749384G>T	uc002dze.1	+	33	8408	c.8023G>T	c.(8023-8025)Gaa>Taa	p.E2675*	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Nonsense_Mutation_p.E2470*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2675	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CAGGACCTCGGAAGAGCTGAC	0.592000														152			20		4.96729e-08	5.40616e-08	1	1	0
CLTC	1213	broad.mit.edu	37	17	57758684	57758684	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57758684G>A	uc002ixr.1	+	19	3549	c.3106G>A	c.(3106-3108)Gca>Aca	p.A1036T	CLTC_uc002ixp.3_Missense_Mutation_p.A1032T|CLTC_uc002ixq.1_Missense_Mutation_p.A1032T	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1032	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TATCCTCACTGCAATTAAGGC	0.358000			T	"""ALK, TFE3"""	"""ALCL, renal """									79			28		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101552339	101552339	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101552339T>C	uc002bwr.3	+	9	1727	c.1408T>C	c.(1408-1410)Ttc>Ctc	p.F470L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	470					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTGGGACTTTTCCAGCTTGA	0.433000														188			24		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73726545	73726545	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73726545C>A	uc002jpg.3	+	7	1149	c.962C>A	c.(961-963)cCc>cAc	p.P321H	ITGB4_uc002jph.3_Missense_Mutation_p.P321H|ITGB4_uc010dgo.3_Missense_Mutation_p.P321H|ITGB4_uc002jpi.4_Missense_Mutation_p.P321H|ITGB4_uc010dgp.1_Missense_Mutation_p.P321H|ITGB4_uc002jpj.3_Missense_Mutation_p.P321H|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	321	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACATCATCCCCATCTTTGCT	0.617000														186			24		8.24728e-16	9.79314e-16	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11687764	11687764	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11687764G>A	uc002gne.3	+	40	8037	c.7969G>A	c.(7969-7971)Gcc>Acc	p.A2657T	DNAH9_uc010coo.3_Missense_Mutation_p.A1951T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2657	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGCCCTCGCCTTCCACCA	0.502000														294			58		0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424359	125424359	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125424359G>A	uc022bmz.1	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						GCCATTGACCGCTATGTGGCC	0.458000														345			78		0	0	1	0	0
SMAP2	64744	broad.mit.edu	37	1	40874336	40874336	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40874336G>A	uc001cfj.3	+	2	664	c.249G>A	c.(247-249)gaG>gaA	p.E83E	SMAP2_uc010ojh.2_Silent_p.E83E|SMAP2_uc001cfk.3_Silent_p.E53E|SMAP2_uc021oma.1_Silent_p.E78E|SMAP2_uc010oji.2_Silent_p.E3E	NM_022733	NP_001185909	Q8WU79	SMAP2_HUMAN	Homo sapiens small ArfGAP2 (SMAP2), transcript variant 1, mRNA.	83	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GCATGCAAGAGATGGGAAATG	0.428000														117			11		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23857491	23857491	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23857491G>A	uc001wjv.3	-	29	4303	c.4232C>T	c.(4231-4233)gCc>gTc	p.A1411V		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1411					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGAGCACTTGGCATTAACAGC	0.597000														189			48		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19212023	19212023	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19212023C>A	uc001bbb.3	-	4	673	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ALDH4A1_uc010ocu.2_Missense_Mutation_p.D73Y|ALDH4A1_uc001bbc.3_Missense_Mutation_p.D133Y|ALDH4A1_uc021ohl.1_Missense_Mutation_p.D133Y|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	133					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CTCAGCATGTCTGCCGCCTTC	0.662000														27			6		0.0215528	0.0217347	1	1	0
ZZEF1	23140	broad.mit.edu	37	17	3977461	3977461	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3977461G>A	uc002fxe.3	-	23	3732	c.3668C>T	c.(3667-3669)gCg>gTg	p.A1223V		NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1223							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						AGACTTGAGCGCCATGCACTG	0.597000														250			55		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47788906	47788906	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47788906C>T	uc003gxm.3	-	2	338	c.245G>A	c.(244-246)aGt>aAt	p.S82N	CORIN_uc011bzf.2_5'UTR|CORIN_uc011bzg.2_Intron|CORIN_uc011bzh.1_Missense_Mutation_p.S82N|CORIN_uc011bzi.1_Missense_Mutation_p.S82N|CORIN_uc003gxn.4_Missense_Mutation_p.S82N	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	82					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAAAGGTTCACTCCCATTTGA	0.348000														45			8		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150720331	150720331	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150720331G>A	uc001evn.3	-	6	1079	c.818C>T	c.(817-819)aCt>aTt	p.T273I	CTSS_uc010pcj.2_Missense_Mutation_p.T223I	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	273					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			CACATTCTGAGTACAGGATGG	0.343000														136			24		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27670790	27670790	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27670790C>A	uc002rku.3	-	41	4480	c.4429_splice	c.e41-1	p.N1477_splice	IFT172_uc010ezb.3_Splice_Site	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1477					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TATTGAAGTTCTAGAGGTAGA	0.493000														97			23		2.21704e-12	2.55528e-12	1	1	0
GDI1	2664	broad.mit.edu	37	X	153668321	153668321	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153668321G>A	uc004fli.4	+	4	764	c.422G>A	c.(421-423)cGc>cAc	p.R141H	GDI1_uc011mzo.1_Missense_Mutation_p.R141H|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	141					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CGGCGCTTCCGCAAGTTCCTG	0.552000														558			168		0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56177918	56177918	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56177918G>T	uc003jqw.4	+	13	3392	c.2891G>T	c.(2890-2892)aGt>aTt	p.S964I		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	964					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGACCCCACAGTCAGTGTTTG	0.453000														114			37		9.8876e-21	1.20929e-20	1	1	0
TIMM21	29090	broad.mit.edu	37	18	71822623	71822623	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71822623C>T	uc010dqr.1	+	2	745	c.447C>T	c.(445-447)tgC>tgT	p.C149C		NM_014177	NP_054896	Q9BVV7	TI21L_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 21 homolog (yeast) (TIMM21), nuclear gene encoding mitochondrial protein, mRNA.	149					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											TAGAAAAATGCAGATCACATC	0.408000														69			16		0	0	1	0	0
KBTBD2	25948	broad.mit.edu	37	7	32910180	32910180	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32910180G>A	uc003tdb.2	-	3	1308	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	217										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTTGGCTAAGAACAGAAGAC	0.413000														123			11		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21859667	21859667	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21859667C>T	uc001war.2	-	34	7085	c.7020G>A	c.(7018-7020)tgG>tgA	p.W2340*	CHD8_uc001was.2_Nonsense_Mutation_p.W2061*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2340					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GACCCTGTAACCACATCTCCA	0.512000														50			18		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112642296	112642296	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112642296G>A	uc021reb.1	-	52	8257	c.7861C>T	c.(7861-7863)Cga>Tga	p.R2621*	C12orf51_uc001ttr.1_Nonsense_Mutation_p.R508*	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.R2583*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AAACCTTTTCGAACTTTATCA	0.393000														103			7		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19028666	19028666	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19028666G>A	uc002zoq.1	-	8	1549	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	DGCR2_uc021wkx.1_Missense_Mutation_p.T431M|DGCR2_uc021wky.1_Missense_Mutation_p.T393M|DGCR2_uc021wkz.1_Missense_Mutation_p.T210M|DGCR2_uc011agr.1_Missense_Mutation_p.T390M|DGCR2_uc002zor.1_Missense_Mutation_p.T210M	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	434					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CTTGTATGCCGTGTAGGGAGG	0.642000														129			31		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12837595	12837595	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12837595G>A	uc001aui.3	+	2	1332	c.1305G>A	c.(1303-1305)gaG>gaA	p.E435E		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	435										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGCTGAGCTGATGAAGA	0.562000														252			28		0	0	1	0	0
PF4	5196	broad.mit.edu	37	4	74846978	74846978	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74846978G>A	uc003hhi.2	-	2	294	c.249C>T	c.(247-249)tgC>tgT	p.C83C		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	83					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of MHC class II biosynthetic process|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	GCAGGTCCAAGCAAATTTTCC	0.448000														110			18		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595239	7595239	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595239C>T	uc002mgo.3	+	11	1568	c.1427C>T	c.(1426-1428)aCg>aTg	p.T476M	MCOLN1_uc002mgp.3_Missense_Mutation_p.T441M	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	476					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGTTTGTGACGTTCGCCGCC	0.602000														536			110		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227289	142227289	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142227289C>T	uc003ywd.1	-	5	1785	c.1477_splice	c.e5-1	p.A493_splice	SLC45A4_uc003ywc.1_Splice_Site_p.A493_splice|SLC45A4_uc010meq.1_Splice_Site_p.A491_splice	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	544					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCGAGGGGGCCTGTTCCGGAA	0.617000														108			33		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26619917	26619917	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26619917G>T	uc001mqt.4	+	14	1598	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	ANO3_uc010rdr.2_Missense_Mutation_p.V469F|ANO3_uc010rds.2_Missense_Mutation_p.V324F|ANO3_uc010rdt.2_Missense_Mutation_p.V339F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	485						chloride channel complex	chloride channel activity	p.V485V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TATAGCCACAGTCTTCCTGGA	0.318000														90			17		1.99824e-07	2.15697e-07	1	1	0
SPEG	10290	broad.mit.edu	37	2	220338459	220338459	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220338459G>T	uc010fwg.3	+	17	4281	c.4281G>T	c.(4279-4281)ggG>ggT	p.G1427G		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1427	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCCGAGGGGCCCTCCTAG	0.657000														443			86		4.869e-31	6.13763e-31	1	1	0
S100A13	6284	broad.mit.edu	37	1	153598820	153598820	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153598820G>A	uc001fcf.4	-	1	303	c.129C>T	c.(127-129)acC>acT	p.T43T	S100A13_uc001fcg.3_Silent_p.T43T|S100A13_uc009woh.3_Silent_p.T43T|S100A13_uc001fch.3_Silent_p.T43T|S100A13_uc001fci.3_Silent_p.T43T|S100A13_uc001fcj.3_Silent_p.T43T|S100A1_uc001fck.1_5'Flank|S100A1_uc001fcl.1_5'Flank	NM_001024213	NP_005970	Q99584	S10AD_HUMAN	Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA.	43	EF-hand 1.				interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	GCAACTGCTGGGTAACCAGCT	0.527000														432			86		0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3740954	3740954	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3740954C>A	uc002cvt.4	-	1	210	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	TRAP1_uc010uxf.2_Intron	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	41					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CCCAACTGGGCTGTGGTCCTC	0.527000											OREG0023572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		100			27		7.38237e-10	8.2451e-10	1	1	0
COBLL1	22837	broad.mit.edu	37	2	165551408	165551408	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165551408C>T	uc002ucp.3	-	11	2830	c.2608G>A	c.(2608-2610)Gac>Aac	p.D870N	COBLL1_uc002ucq.3_Missense_Mutation_p.D832N|COBLL1_uc010zcw.2_Missense_Mutation_p.D937N|COBLL1_uc010zcx.2_Missense_Mutation_p.D878N|COBLL1_uc002ucn.3_Missense_Mutation_p.D298N|COBLL1_uc002uco.3_Missense_Mutation_p.D601N	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	908										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						GTGCCAGTGTCTCTTGTCATT	0.448000														159			33		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33348430	33348430	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348430G>A	uc010cti.1	-	2	793	c.569C>T	c.(568-570)gCc>gTc	p.A190V	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.A184V|RFFL_uc002hin.1_Missense_Mutation_p.A184V|RFFL_uc002hip.2_Missense_Mutation_p.A184V|RFFL_uc002hio.2_Missense_Mutation_p.A184V	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	184					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)		AACAGAGGTGGCTTGTGCAGA	0.552000														63			16		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245060	40245060	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245060C>A	uc003guz.2	+	2	778	c.54C>A	c.(52-54)acC>acA	p.T18T	RHOH_uc021xnp.1_Silent_p.T18T	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	18					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGGGGAAAACCTCTCTGTTGG	0.562000														121			23		5.35356e-11	6.06456e-11	1	1	0
NOD2	64127	broad.mit.edu	37	16	50745492	50745492	+	Missense_Mutation	SNP	G	A	A	rs104895436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745492G>A	uc002egm.1	+	3	1775	c.1670G>A	c.(1669-1671)gGc>gAc	p.G557D	NOD2_uc021tia.1_Missense_Mutation_p.G389D|NOD2_uc010cbk.1_Missense_Mutation_p.G530D|NOD2_uc002egl.1_Missense_Mutation_p.G335D|NOD2_uc010cbl.1_Missense_Mutation_p.G335D|NOD2_uc010cbm.1_Missense_Mutation_p.G335D|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	557	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTCTGTGGGGCCTGGGCATG	0.637000														93			23		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41710129	41710129	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41710129A>C	uc002yyq.1	-	7	2134	c.1682T>G	c.(1681-1683)cTt>cGt	p.L561R	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	561	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACATCTGAAAGTTTAAGAGT	0.473000														156			31		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67260478	67260478	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67260478G>A	uc001olx.3	-	21	3587	c.3398C>T	c.(3397-3399)gCg>gTg	p.A1133V	PITPNM1_uc001olw.3_Missense_Mutation_p.A415V|PITPNM1_uc001oly.3_Missense_Mutation_p.A1133V|PITPNM1_uc001olz.3_Missense_Mutation_p.A1132V	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	1133				A -> T (in Ref. 1; CAA67224).	brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCCCAGCGCCGCGTATACAGC	0.642000														358			65		0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99103950	99103950	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99103950C>T	uc003uqv.3	+	1	407	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	ZKSCAN5_uc010lfx.3_Silent_p.L95L|ZKSCAN5_uc003uqw.3_Silent_p.L95L|ZKSCAN5_uc003uqx.3_Silent_p.L95L|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	95	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCTGCTGGTGCTGGAGCAGTT	0.597000														179			38		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229595	7229595	+	Silent	SNP	C	T	T	rs140980354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229595C>T	uc003mxb.3	+	9	1755	c.1263C>T	c.(1261-1263)ggC>ggT	p.G421G	RREB1_uc021yky.1_Silent_p.G421G|RREB1_uc003mxc.3_Silent_p.G421G|RREB1_uc010jnx.3_Silent_p.G421G|RREB1_uc021ykz.1_Silent_p.G421G|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	421					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTTCCCTAGGCGGTTCTCTCA	0.577000														123			22		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136593153	136593153	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136593153A>C	uc003qgx.1	-	7	2276	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	BCLAF1_uc003qgy.1_Missense_Mutation_p.F673V|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.F673V|BCLAF1_uc003qgw.1_Missense_Mutation_p.F502V	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	675					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTTCTTTAAAAACTCTCTCT	0.303000														79			9		0	0	1	0	0
CCDC114	93233	broad.mit.edu	37	19	48800516	48800516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800516G>A	uc002pir.2	-	13	2413	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	CCDC114_uc002piq.2_Missense_Mutation_p.T386M|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	577								p.T577M(1)|p.T370M(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCACCGTGCGTGATGTGGCT	0.622000														140			30		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66619997	66619997	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66619997T>C	uc001ojn.1	-	12	1787	c.1738A>G	c.(1738-1740)Act>Gct	p.T580A	PC_uc001ojo.1_Missense_Mutation_p.T580A|PC_uc001ojp.1_Missense_Mutation_p.T580A	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	580	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGCACACGAGTGGCCAGCAGT	0.617000														192			44		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181859	81181859	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81181859A>C	uc002fgh.1	-	28	4857	c.4857T>G	c.(4855-4857)cgT>cgG	p.R1619R	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1619					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CGACCCGGGGACGGGTGTTCT	0.572000														103			24		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49001742	49001742	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49001742G>T	uc002pjk.3	-	11	2671	c.2671C>A	c.(2671-2673)Ctg>Atg	p.L891M		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GACATCAGCAGCTGTTCCGTG	0.706000														19			6		2.7689e-08	3.02839e-08	1	1	0
TNFRSF19	55504	broad.mit.edu	37	13	24243246	24243246	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24243246C>T	uc001uov.2	+	8	1459	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	TNFRSF19_uc001uot.3_Intron|TNFRSF19_uc010tcu.2_Intron|TNFRSF19_uc001uow.3_Intron	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	419					JNK cascade|apoptosis|induction of apoptosis	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GGTAAGGCAGCGACTGGGTTC	0.493000														71			9		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50782534	50782534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50782534C>T	uc002xwl.3	-	2	666	c.317G>A	c.(316-318)gGc>gAc	p.G106D	ZFP64_uc002xwk.3_Missense_Mutation_p.G106D|ZFP64_uc002xwm.3_Missense_Mutation_p.G104D|ZFP64_uc002xwn.3_Intron	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGTTTGATAGCCATGTTCAAA	0.423000														77			9		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43024010	43024010	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43024010G>A	uc001zql.3	-	10	1664	c.1547C>T	c.(1546-1548)cCt>cTt	p.P516L	CDAN1_uc001zqj.3_5'Flank|CDAN1_uc001zqk.3_5'UTR	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	516						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCACCACCAGGGCTCTGACA	0.527000														107			30		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170502626	170502626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170502626C>T	uc002ufe.2	-	8	1478	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	462										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						GCCACAAGAGCTTCAGTAAGT	0.323000														244			81		0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1896098	1896098	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1896098C>A	uc002wfq.3	+	2	793	c.433C>A	c.(433-435)Cgc>Agc	p.R145S	SIRPA_uc010zps.2_Missense_Mutation_p.R125S|SIRPA_uc002wfr.3_Missense_Mutation_p.R145S|SIRPA_uc002wfs.3_Missense_Mutation_p.R145S|SIRPA_uc002wft.3_Missense_Mutation_p.R145S	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	145					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GCTGTCTGTGCGCGGTGAGTA	0.542000														146			16		0.000132079	0.000137	1	1	0
RNF157	114804	broad.mit.edu	37	17	74169858	74169858	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169858G>A	uc002jqz.3	-	2	290	c.221C>T	c.(220-222)gCc>gTc	p.A74V	RNF157_uc002jra.3_Missense_Mutation_p.A74V	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	74							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGAGGTGGGGCGGCGTAAGG	0.527000														48			7		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40036947G>A	uc003ayc.3	+	5	816	c.816G>A	c.(814-816)tcG>tcA	p.S272S	CACNA1I_uc003ayd.3_Silent_p.S272S|CACNA1I_uc003aye.3_Silent_p.S187S|CACNA1I_uc003ayf.3_Silent_p.S187S	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	272					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)	GCTCCCTGTCGGGCGACAATG	0.612000														90			10		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23430028	23430028	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23430028A>G	uc002dlo.3	-	7	1327	c.1130T>C	c.(1129-1131)gTg>gCg	p.V377A		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	377					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TACCAGAGGCACAGCACTCAT	0.572000														67			9		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65304578	65304578	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65304578C>T	uc001oea.1	+	13	2015	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	SCYL1_uc009yqk.3_Silent_p.D646D|SCYL1_uc001oeb.1_Silent_p.D629D|SCYL1_uc001oec.1_Silent_p.D646D|SCYL1_uc001oee.1_Silent_p.D290D	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	646					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						GATGGGACGACGAAGACTGGG	0.642000														96			12		0	0	1	0	0
FNTA	2339	broad.mit.edu	37	8	42932451	42932451	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42932451C>T	uc003xps.3	+	5	774	c.726C>T	c.(724-726)ttC>ttT	p.F242F	FNTA_uc003xpt.3_Silent_p.F151F|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	242					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	CAAX-protein geranylgeranyltransferase activity|alpha-tubulin binding|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AAAGATACTTCGTTATTTCTA	0.393000														109			19		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93526947	93526947	+	Missense_Mutation	SNP	G	A	A	rs140935979		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93526947G>A	uc001pem.4	+	3	966	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	231					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACAGATCTCGATCTGGATAA	0.303000														45			11		0	0	1	0	0
NARS2	79731	broad.mit.edu	37	11	78277273	78277273	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78277273G>A	uc001ozi.3	-	3	794	c.418C>T	c.(418-420)Cga>Tga	p.R140*	NARS2_uc010rsq.2_5'UTR	NM_024678	NP_001230180	Q96I59	SYNM_HUMAN	Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					asparaginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)	27	all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19)				L-Asparagine(DB00174)	GGATATTGTCGCAGATACTCC	0.373000														85			13		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76458993	76458993	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76458993G>A	uc010dhp.2	-	56	9232	c.9107C>T	c.(9106-9108)aCg>aTg	p.T3036M	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AACAAGTTCCGTTCTCTTCTT	0.557000														77			20		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335130	141335130	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141335130G>A	uc003llx.3	-	0	3498	c.2287C>T	c.(2287-2289)Ccc>Tcc	p.P763S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	763					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCTTGGGCTGCTGGCGG	0.587000														116			27		0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051455	44051455	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44051455T>A	uc002rtn.3	-	7	1161	c.1021A>T	c.(1021-1023)Aat>Tat	p.N341Y	ABCG5_uc002rtm.3_Intron|ABCG5_uc002rto.3_Missense_Mutation_p.N170Y|ABCG5_uc002rtp.3_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	341					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTTCAATATTCTTCAAAGTT	0.388000														194			40		0	0	1	0	0
PCTP	58488	broad.mit.edu	37	17	53848535	53848535	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:53848535T>C	uc002iul.4	+	2	453	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	PCTP_uc002ium.4_Missense_Mutation_p.S38P|PCTP_uc010dch.3_Non-coding_Transcript	NM_021213	NP_001095872	Q9UKL6	PPCT_HUMAN	Homo sapiens phosphatidylcholine transfer protein (PCTP), transcript variant 1, mRNA.	110	START.					cytosol	phosphatidylcholine binding|phosphatidylcholine transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10			BRCA - Breast invasive adenocarcinoma(1;0.00207)			TTTTCCCATGTCCAACAGAGA	0.458000														127			26		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88677775	88677775	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677775C>T	uc010voz.2	+	8	1578	c.1378C>T	c.(1378-1380)Cga>Tga	p.R460*	ZC3H18_uc021tmm.1_Missense_Mutation_p.A432V|ZC3H18_uc010voy.1_Nonsense_Mutation_p.R319*|ZC3H18_uc002fky.3_Nonsense_Mutation_p.R436*|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	436						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ggagcgcgagcgagagcggga	0.716000														13			8		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70866246	70866246	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70866246A>G	uc003pfc.1	+	32	2340	c.2223A>G	c.(2221-2223)ggA>ggG	p.G741G	COL19A1_uc010kam.2_Silent_p.G637G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	741	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATCCCAGGAAGAGAGGGAC	0.458000														97			26		0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40480536	40480536	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40480536A>G	uc002omq.3	+	4	612	c.575A>G	c.(574-576)aAg>aGg	p.K192R	PSMC4_uc002omr.3_Missense_Mutation_p.K161R	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	192					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GAGCTCTACAAGCAGGTGAGG	0.617000														146			27		0	0	1	0	0
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32687649C>T	uc002hid.1	-	2	292	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981	NP_002972	P22362	CCL1_HUMAN	Homo sapiens chemokine (C-C motif) ligand 1 (CCL1), mRNA.	74					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522000														181			46		0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176951655	176951655	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176951655G>A	uc003mhu.3	-	5	1916	c.1827C>T	c.(1825-1827)tcC>tcT	p.S609S	FAM193B_uc003mhr.3_Silent_p.S113S|FAM193B_uc021yiw.1_Silent_p.S235S|FAM193B_uc003mht.3_Silent_p.S235S|FAM193B_uc003mhv.3_Silent_p.S235S|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	285										kidney(1)|large_intestine(3)	4						TTGGCTCCTCGGAGCTGGGGT	0.617000														118			7		0	0	1	0	0
XRCC6	2547	broad.mit.edu	37	22	42033677	42033677	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42033677G>T	uc003bao.1	+	5	725	c.655G>T	c.(655-657)Gat>Tat	p.D219Y	XRCC6_uc003bap.1_Missense_Mutation_p.D178Y|XRCC6_uc011apc.1_Missense_Mutation_p.D169Y|XRCC6_uc003bar.2_Missense_Mutation_p.D219Y	NM_001469	NP_001460	P12956	XRCC6_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 6 (XRCC6), mRNA.	219					DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GTTCTACAGAGATATCATCAG	0.488000								Non-homologous end-joining						33			6		5.9392e-07	6.36579e-07	1	1	0
PFKL	5211	broad.mit.edu	37	21	45744399	45744399	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45744399C>T	uc002zek.3	+	19	2218	c.1817C>T	c.(1816-1818)gCc>gTc	p.A606V	PFKL_uc002zel.3_Missense_Mutation_p.A559V|PFKL_uc002zem.3_Missense_Mutation_p.A146V|PFKL_uc002zen.3_Missense_Mutation_p.A146V			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	559					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		AAACAGTCTGCCTCGGGGACC	0.672000														146			14		0	0	1	0	0
SYT14L	401135	broad.mit.edu	37	4	68928420	68928420	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68928420A>G	uc021xou.1	-	0	568	c.407T>C	c.(406-408)aTg>aCg	p.M136T	LOC550112_uc003hdl.4_Non-coding_Transcript|TMPRSS11F_uc003hdt.1_Intron|BC041902_uc011cak.2_Non-coding_Transcript|SYT14L_uc010ihn.3_Non-coding_Transcript					RecName: Full=Putative synaptotagmin-14-like protein; AltName: Full=Synaptotagmin XIV-derived protein; AltName: Full=Synaptotagmin XIV-like protein;											endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(2)	11						CACAGACAGCATGAGTGTCAC	0.413000														114			28		0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113975904	113975904	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113975904C>T	uc001vtm.1	+	7	1257	c.976C>T	c.(976-978)Cga>Tga	p.R326*	LAMP1_uc010tka.1_Nonsense_Mutation_p.R273*	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	326	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CGGCTCCCTGCGAGCGCTGCA	0.602000														262			40		0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182783536	182783536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182783536C>T	uc002uoi.3	+	12	3242	c.2920C>T	c.(2920-2922)Caa>Taa	p.Q974*	SSFA2_uc002uoh.3_Nonsense_Mutation_p.Q974*|SSFA2_uc002uoj.3_Nonsense_Mutation_p.Q974*|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Nonsense_Mutation_p.Q821*|SSFA2_uc002uol.3_Nonsense_Mutation_p.Q821*|SSFA2_uc002uom.3_Nonsense_Mutation_p.Q442*	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	974						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GTTTAGAACACAAATGATGGA	0.363000														75			20		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236748389	236748389	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236748389G>A	uc001hyd.2	-	16	2329	c.2177C>T	c.(2176-2178)gCg>gTg	p.A726V	HEATR1_uc009xgh.2_5'Flank	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	726					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GACTCTTATCGCAAATGGAAA	0.398000														118			7		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111953130	111953130	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111953130C>T	uc010tjo.2	+	17	1976	c.1924C>T	c.(1924-1926)Cca>Tca	p.P642S	ARHGEF7_uc001vrv.4_Missense_Mutation_p.P567S|ARHGEF7_uc001vrw.4_Missense_Mutation_p.P567S|ARHGEF7_uc001vrx.4_Missense_Mutation_p.P567S	NM_003899	NP_003890	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 1, mRNA.	0					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTTGCTTCCAGAAGAAGA	0.353000														124			16		0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139186158	139186158	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139186158A>C	uc003qif.2	+	11	1642	c.1317A>C	c.(1315-1317)caA>caC	p.Q439H	ECT2L_uc021zfx.1_Missense_Mutation_p.Q439H|ECT2L_uc011edq.1_Missense_Mutation_p.Q370H	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	439					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGGGATCCCAATGGGGAAAGG	0.428000			"""N, Splice, Mis"""		ETP ALL									94			17		0	0	1	0	0
INCENP	3619	broad.mit.edu	37	11	61919402	61919402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61919402G>A	uc001nsw.1	+	18	2913	c.2711G>A	c.(2710-2712)gGc>gAc	p.G904D	INCENP_uc001nsx.1_Missense_Mutation_p.G900D	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	904					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCTGCAGGGCGCCAGGGTC	0.607000														114			25		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652132	152652132	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652132G>T	uc021zhb.1	-	75	13911	c.13688C>A	c.(13687-13689)tCt>tAt	p.S4563Y	SYNE1_uc003qot.4_Missense_Mutation_p.S4492Y|SYNE1_uc003qou.4_Missense_Mutation_p.S4563Y|SYNE1_uc010kiz.3_Missense_Mutation_p.S318Y	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4563					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGCTTCCTAGAAACCAAATT	0.383000										HNSCC(10;0.0054)				248			46		1.15505e-17	1.38846e-17	1	1	0
ACSM2B	348158	broad.mit.edu	37	16	20559396	20559396	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20559396G>T	uc002dhj.4	-	8	1296	c.1086C>A	c.(1084-1086)ggC>ggA	p.G362G	ACSM2B_uc002dhk.4_Silent_p.G362G|ACSM2B_uc010bwf.1_Silent_p.G362G	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	362					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTCTGTCTGGCCATAGAATT	0.507000														300			47		3.21987e-24	3.99968e-24	1	1	0
FGFBP1	9982	broad.mit.edu	37	4	15937605	15937605	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15937605A>C	uc003gom.3	-	2	946	c.651T>G	c.(649-651)acT>acG	p.T217T	FGFBP1_uc021xml.1_Silent_p.T217T	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	217	Sufficient for interaction with FGF2 and FGF2-induced effects.				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GAGAGCTCCAAGTCTCTCCAC	0.517000														200			47		0	0	1	0	0
JOSD2	126119	broad.mit.edu	37	19	51010878	51010878	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51010878G>A	uc002psn.1	-	2	256	c.225C>T	c.(223-225)gcC>gcT	p.A75A	JOSD2_uc002psp.1_Silent_p.A75A|JOSD2_uc002pso.1_Silent_p.A75A|JOSD2_uc002psq.1_Intron	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	75	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		CCTGCAGAGCGGCCATGATCA	0.667000														292			53		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12968258	12968258	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12968258G>A	uc003wwm.2	-	6	1939	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DLC1_uc003wwk.1_Silent_p.L62L|DLC1_uc003wwl.1_Silent_p.L96L|DLC1_uc011kxx.1_5'UTR	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	499	SAM.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACCTGCATAGAGCCTCAATG	0.358000														153			37		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82789700	82789700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82789700G>A	uc003kii.3	+	4	1054	c.698G>A	c.(697-699)cGt>cAt	p.R233H	VCAN_uc003kij.3_Missense_Mutation_p.R233H|VCAN_uc010jau.2_Missense_Mutation_p.R233H|VCAN_uc003kik.3_Missense_Mutation_p.R233H|VCAN_uc003kih.4_Missense_Mutation_p.R233H	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	233	Link 1.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TATGGATTCCGTTCTCCCCAG	0.438000														133			32		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904434	73904434	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73904434C>T	uc011dyh.2	+	14	2500	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A709V|KCNQ5_uc010kat.3_Missense_Mutation_p.A690V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A699V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A589V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A449V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	699					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GAGTTCAGTGCCCAGACTTTC	0.512000														230			39		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55260120	55260120	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55260120T>C	uc003jqq.3	-	5	825	c.512A>G	c.(511-513)gAt>gGt	p.D171G	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.D171G|IL6ST_uc010iwb.3_Missense_Mutation_p.D171G|IL6ST_uc010iwf.1_Non-coding_Transcript	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	171	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGCTTTGCAATCAGCAAACTT	0.358000			O		hepatocellular ca									64			11		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82583261G>A	uc003uhx.2	-	4	7297	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_uc003uhv.2_Silent_p.S2336S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2267	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428000														146			30		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640301	106640301	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640301A>G	uc003hxz.4	+	2	583	c.511A>G	c.(511-513)Act>Gct	p.T171A	GSTCD_uc003hxx.2_Missense_Mutation_p.T171A|GSTCD_uc003hxy.4_Missense_Mutation_p.T84A|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.T171A	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	171	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		CCAGCCCCCAACTATACCTGT	0.423000														164			40		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45307687	45307687	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45307687G>T	uc001myq.2	-	0	198	c.72C>A	c.(70-72)tgC>tgA	p.C24*	SYT13_uc009yku.1_5'UTR	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	24						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGTGACCCCGCACAACGCGA	0.706000														22			7		8.12818e-05	8.44191e-05	1	1	0
RNF31	55072	broad.mit.edu	37	14	24617572	24617572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24617572G>A	uc001wmn.1	+	2	694	c.445G>A	c.(445-447)Gtc>Atc	p.V149I	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_5'UTR|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_5'UTR|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	149	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GGTTGCTACAGTCACACTGGA	0.557000														68			16		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1542716	1542716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1542716C>T	uc003skn.2	-	2	271	c.170G>A	c.(169-171)cGc>cAc	p.R57H	INTS1_uc003skq.2_Missense_Mutation_p.R57H	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	57					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		ATCCCGCTTGCGCTCAGAAGG	0.647000														232			45		0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63981390	63981390	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63981390C>T	uc003dlv.3	+	11	2445	c.1892C>T	c.(1891-1893)gCt>gTt	p.A631V	ATXN7_uc003dlw.4_Missense_Mutation_p.A631V|ATXN7_uc021wzy.1_Missense_Mutation_p.A631V|ATXN7_uc011bfn.2_Missense_Mutation_p.A486V	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	631					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CAGCCTGCTGCTTCAGGGGCG	0.542000														210			62		0	0	1	0	0
BRMS1L	84312	broad.mit.edu	37	14	36295809	36295809	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36295809C>T	uc001wtl.3	+	0	213	c.87C>T	c.(85-87)agC>agT	p.S29S	BRMS1L_uc010tpx.1_5'UTR	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	29					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGGGGAGCAGCTCCGAGGACG	0.627000														40			8		0	0	1	0	0
PA2G4	5036	broad.mit.edu	37	12	56505030	56505030	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56505030C>A	uc001sjm.3	+	10	1421	c.1002C>A	c.(1000-1002)acC>acA	p.T334T		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	334	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGCGGATAACCAGTGGTCCCT	0.443000														152			21		3.51602e-12	4.04451e-12	1	1	0
CDC37L1	55664	broad.mit.edu	37	9	4684890	4684890	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4684890G>A	uc003zio.3	+	1	348	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	49	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		TATAGCCATGGAATTGAATTG	0.373000														55			9		0	0	1	0	0
TMEM184A	202915	broad.mit.edu	37	7	1590563	1590563	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590563C>T	uc003skv.4	-	2	592	c.275G>A	c.(274-276)cGc>cAc	p.R92H	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	92						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGGAGCAGGCGGATGATGTA	0.627000														82			16		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159897170	159897170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897170G>A	uc001fur.2	-	20	3703	c.3505C>T	c.(3505-3507)Cca>Tca	p.P1169S	IGSF9_uc001fuq.2_Missense_Mutation_p.P1153S|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.P315S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1169						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGGGGGACTGGCTGTCGATAG	0.622000														190			32		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55206408	55206408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55206408C>T	uc002xya.3	+	1	439	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TFAP2C_uc010zzi.2_5'UTR	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	66	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCCCTACCAGCAGCTGGCCTA	0.697000														117			21		0	0	1	0	0
DDX20	11218	broad.mit.edu	37	1	112309448	112309448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112309448G>A	uc001ebs.3	+	10	2759	c.2402G>A	c.(2401-2403)aGa>aAa	p.R801K	DDX20_uc010owf.2_Missense_Mutation_p.R563K|DDX20_uc001ebt.3_Missense_Mutation_p.R409K	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	801					assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATGCTCAGAGACATCCAAGT	0.403000														87			14		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65408934	65408934	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408934C>T	uc001ofb.2	+	1	709	c.542C>T	c.(541-543)gCa>gTa	p.A181V	SIPA1_uc010rom.1_Missense_Mutation_p.A181V|SIPA1_uc001ofd.2_Missense_Mutation_p.A181V	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	181					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GGTGGACCAGCATCCCCACCT	0.672000														129			29		0	0	1	0	0
ZNF137P	7696	broad.mit.edu	37	19	53100317	53100317	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53100317G>T	uc002pzt.3	+	0		c.381G>T								Homo sapiens zinc finger protein 137, pseudogene (ZNF137P), non-coding RNA.																		AATCACTGGAGAATCCATAAT	0.353000														38			17		9.16793e-09	1.00855e-08	1	1	0
SEL1L2	80343	broad.mit.edu	37	20	13868480	13868480	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13868480G>A	uc010gcf.3	-	7	762	c.680C>T	c.(679-681)tCg>tTg	p.S227L	SEL1L2_uc002woq.4_Missense_Mutation_p.S88L|SEL1L2_uc010zrl.2_Missense_Mutation_p.S227L|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	227						integral to membrane	binding	p.S227S(2)|p.S227L(2)|p.L226F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						ATTGATTCCCGACAAATATCT	0.303000														107			17		0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761415	96761415	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96761415A>G	uc003htr.4	+	0	177	c.114A>G	c.(112-114)aaA>aaG	p.K38K		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	38					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AAATTAAGAAATGTGATCTTT	0.507000														74			17		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147820025	147820025	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147820025G>A	uc003lpf.1	+	19	3329	c.3209G>A	c.(3208-3210)cGa>cAa	p.R1070Q	FBXO38_uc003lpg.1_Missense_Mutation_p.R995Q|FBXO38_uc003lph.2_Missense_Mutation_p.R825Q	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	1070						cytoplasm|nucleus		p.R1070G(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGCCACTCGAAGTGAAGAA	0.353000														66			15		0	0	1	0	0
APOL3	80833	broad.mit.edu	37	22	36537445	36537445	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36537445G>A	uc003aot.3	-	2	1050	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	APOL3_uc003aoq.3_Missense_Mutation_p.R267W|APOL3_uc003aor.3_Missense_Mutation_p.R267W|APOL3_uc003aos.3_Missense_Mutation_p.R267W|APOL3_uc003aou.3_Missense_Mutation_p.R138W|APOL3_uc003aov.3_Missense_Mutation_p.R138W|APOL3_uc021wol.1_Missense_Mutation_p.R138W	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	338					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity	p.R338W(1)|p.R267W(1)		endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTCAGGATCCGGGCTCCTCTG	0.577000														138			35		0	0	1	0	0
CERK	64781	broad.mit.edu	37	22	47116880	47116880	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47116880C>T	uc003bia.3	-	1	282	c.175G>A	c.(175-177)Gcc>Acc	p.A59T		NM_022766	NP_073603	Q8TCT0	CERK1_HUMAN	Homo sapiens ceramide kinase (CERK), mRNA.	59	Required for binding to sulfatide and phosphoinositides.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process	integral to membrane of membrane fraction|membrane|nucleus	ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding	p.I58I(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCTCAACGGCGATGATCTCA	0.443000														211			43		0	0	1	0	0
TTC37	9652	broad.mit.edu	37	5	94814107	94814107	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:94814107C>A	uc003klb.3	-	39	4549	c.4252G>T	c.(4252-4254)Gct>Tct	p.A1418S		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1418							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ATCTCTGCAGCTCTCATCATT	0.443000														90			12		3.07112e-06	3.25591e-06	1	1	0
LRP1	4035	broad.mit.edu	37	12	57587393	57587393	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587393C>T	uc001snd.3	+	46	8195	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2577	LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCAATGGGCGCTGTGTGTC	0.607000														77			21		0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118896084	118896084	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118896084C>A	uc009xyx.3	-	1	573	c.328G>T	c.(328-330)Gag>Tag	p.E110*	VAX1_uc001ldb.1_Nonsense_Mutation_p.E110*	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	110						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		TAGAGCTGCTCCGCGGTGAAG	0.652000														126			25		7.92952e-12	9.07913e-12	1	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960434	73960434	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73960434A>C	uc004eby.3	-	2	4575	c.3958T>G	c.(3958-3960)Ttg>Gtg	p.L1320V		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1320					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						ATGTTGGACAAGATATAGGAA	0.527000														111			37		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235810	127235810	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127235810C>A	uc003vmd.2	+	1	813	c.594C>A	c.(592-594)ttC>ttA	p.F198L	FSCN3_uc003vmc.1_Missense_Mutation_p.F153L|FSCN3_uc011kog.1_Non-coding_Transcript|FSCN3_uc011koh.1_Missense_Mutation_p.F64L|FSCN3_uc010llc.2_Missense_Mutation_p.F198L	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	198						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CACACCACTTCTTGTCCCATG	0.562000														160			36		1.26612e-14	1.49017e-14	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78650044	78650044	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650044C>T	uc011ccd.2	-	9	1347	c.1216G>A	c.(1216-1218)Gtg>Atg	p.V406M	CNOT6L_uc003hks.3_Missense_Mutation_p.V406M|CNOT6L_uc003hkt.1_Missense_Mutation_p.V249M	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	406					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GCACATAGCACCAGCGGGATG	0.428000														172			26		0	0	1	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621894	39621894	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39621894G>T	uc001uxc.3	+	6	1197	c.875G>T	c.(874-876)aGc>aTc	p.S292I	NHLRC3_uc001uxd.3_Missense_Mutation_p.S225I|NHLRC3_uc001uxe.3_Missense_Mutation_p.S95I	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	292						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CCAGTGGGAAGCATTGGGGAG	0.483000														73			12		5.16669e-11	5.85653e-11	1	1	0
RAB38	23682	broad.mit.edu	37	11	87908434	87908434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:87908434G>A	uc001pcj.2	-	0	202	c.119C>T	c.(118-120)gCc>gTc	p.A40V		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	40					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCCGATTGTGGCCCGGTAGTG	0.622000														104			15		0	0	1	0	0
TLE3	7090	broad.mit.edu	37	15	70358362	70358362	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70358362C>T	uc002asl.2	-	5	884	c.583G>A	c.(583-585)Gat>Aat	p.D195N	TLE3_uc002ask.2_Missense_Mutation_p.D134N|TLE3_uc010ukd.1_Missense_Mutation_p.D183N|TLE3_uc010bil.1_Missense_Mutation_p.D190N|TLE3_uc002asn.2_Missense_Mutation_p.D190N|TLE3_uc002asm.2_Missense_Mutation_p.D190N|TLE3_uc002asp.2_Missense_Mutation_p.D190N|TLE3_uc002aso.2_Missense_Mutation_p.D190N|TLE3_uc010bim.1_Non-coding_Transcript	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	190	Gly/Pro-rich.				Wnt receptor signaling pathway|organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCTGTGATCGAGTTCATGG	0.672000														88			17		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83810551	83810551	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83810551T>G	uc011dyy.2	+	3	526	c.266T>G	c.(265-267)aTt>aGt	p.I89S	DOPEY1_uc003pjs.1_Missense_Mutation_p.I89S|DOPEY1_uc010kbl.1_Missense_Mutation_p.I89S	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	89					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACATATGAAATTATCTTCAAA	0.338000														240			57		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808430	8808430	+	Missense_Mutation	SNP	C	T	T	rs139329295		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808430C>T	uc002mkl.2	-	0	743	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667000														139			42		0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5927132	5927132	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5927132C>T	uc002wmh.1	-	1	298	c.176G>A	c.(175-177)gGc>gAc	p.G59D	TRMT6_uc010zra.1_5'UTR|TRMT6_uc010gbn.1_5'UTR|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	59					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	p.G59V(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ATAACTATGGCCAATGACGTT	0.408000														131			7		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57954793	57954793	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954793C>A	uc002qoq.2	+	2	531	c.277C>A	c.(277-279)Ctg>Atg	p.L93M		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	93	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGCTCAATTCTGAAGGACAT	0.512000														80			27		1.66031e-10	1.87009e-10	1	1	0
SLX4	84464	broad.mit.edu	37	16	3641221	3641221	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3641221C>A	uc002cvp.2	-	11	3045	c.2418G>T	c.(2416-2418)gaG>gaT	p.E806D		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	806	Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						TTTCGCAATTCTCTGCTTCCT	0.532000								Direct reversal of damage			OREG0032061	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)		216			45		1.15183e-24	1.43276e-24	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123258035	123258035	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123258035G>A	uc003ieh.3	+	69	12056	c.12011_splice	c.e69-1	p.A4004_splice	KIAA1109_uc003iem.3_Splice_Site_p.A360_splice|KIAA1109_uc003ien.3_5'Flank	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4004					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						ATTTTAAACAGCTGTCAGCTC	0.323000														64			18		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110763	20110763	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110763G>A	uc003wzr.3	-	1	790	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	LZTS1_uc010ltg.2_Silent_p.L227L	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	227					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		AGAGCCTTCAGGCTCATCATG	0.637000														183			51		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448197	52448197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448197G>A	uc002pxz.2	+	5	1525	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_uc002pya.2_Missense_Mutation_p.R318H	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458000														122			18		0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140128134	140128134	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128134G>T	uc022bqf.1	+	7	1027	c.806G>T	c.(805-807)aGc>aTc	p.S269I	SLC34A3_uc004cmc.1_Missense_Mutation_p.S126I|SLC34A3_uc011met.2_Missense_Mutation_p.S269I|SLC34A3_uc004cmf.1_Missense_Mutation_p.S269I	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	269					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCACTAACAGCAGTCTCATT	0.627000														202			28		7.41945e-09	8.17068e-09	1	1	0
WDR52	55779	broad.mit.edu	37	3	113120491	113120491	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113120491A>G	uc003ead.2	-	9	1333	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	WDR52_uc003eae.2_Silent_p.N422N	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	422										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AGAGATTCACATTCTTGTCTA	0.353000														44			7		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868238	57868238	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868238C>T	uc010etw.3	+	3	1530	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F	ZNF304_uc010ygw.2_Missense_Mutation_p.S334F|ZNF304_uc010etx.3_Missense_Mutation_p.S292F	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGAGAAAGATCTTATGACTGC	0.463000														81			29		0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235617568	235617568	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235617568C>T	uc001hxc.2	-	9	1440	c.1211G>A	c.(1210-1212)aGc>aAc	p.S404N		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	404					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			GTAAGCGGGGCTCGGGTACTC	0.507000														162			20		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110501445	110501445	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110501445G>A	uc001pkz.1	-	3	544	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	ARHGAP20_uc001pky.1_Silent_p.L64L|ARHGAP20_uc009yyb.1_Silent_p.L51L|ARHGAP20_uc001pla.1_Silent_p.L51L	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	87	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCATCAATCAGCAGAGTCCTA	0.463000														139			28		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127727023	127727023	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127727023C>A	uc003vmi.3	+	20	2564	c.2338C>A	c.(2338-2340)Cta>Ata	p.L780I	SND1_uc010lle.3_Missense_Mutation_p.L433I	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	780	Tudor.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGGTACCCTATCACCTGC	0.597000														117			19		6.33239e-15	7.46874e-15	1	1	0
STAG3L4	64940	broad.mit.edu	37	7	66767872	66767872	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66767872G>A	uc003tvt.4	+	1	248	c.-10_splice	c.e1+1		PMS2P4_uc003tvo.2_5'Flank|PMS2P4_uc003tvq.3_5'Flank|PMS2P4_uc003tvr.4_5'Flank|PMS2P4_uc003tvs.4_5'Flank|STAG3L4_uc010laj.3_Splice_Site			Q8TBR4	STG34_HUMAN	Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA.											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				GCCACCTACAGGTAGGAGCGC	0.746000														26			7		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676485	11676485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11676485G>A	uc021zzo.1	-	1	546	c.294C>T	c.(292-294)aaC>aaT	p.N98N	THSD7A_uc021zzn.1_Silent_p.N98N	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	98	TSP type-1 1.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTGCTTACAGTTAGTATGCA	0.512000										HNSCC(18;0.044)				139			25		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722536	201722536	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722536A>C	uc002uwe.2	-	6	918	c.737T>G	c.(736-738)cTt>cGt	p.L246R	CLK1_uc010zhi.1_Missense_Mutation_p.L288R|CLK1_uc002uwf.2_Missense_Mutation_p.L20R|CLK1_uc002uwg.2_Missense_Mutation_p.L95R	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	246	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GTAAGTACTAAGTCCCAATAG	0.363000														80			13		0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52740484	52740484	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740484C>T	uc011bzo.2	+	3	323	c.316C>T	c.(316-318)Cca>Tca	p.P106S	DCUN1D4_uc003gze.3_Missense_Mutation_p.P62S|DCUN1D4_uc003gzf.3_Missense_Mutation_p.P62S|DCUN1D4_uc011bzn.2_Missense_Mutation_p.P2S|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	62	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TAAAGTGATGCCACCAAGGAA	0.393000														81			17		0	0	1	0	0
ZNF10	7556	broad.mit.edu	37	12	133732818	133732818	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133732818C>A	uc009zzb.3	+	4	1433	c.986C>A	c.(985-987)tCc>tAc	p.S329Y	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S329Y	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TGTGGAAAATCCTTCAGCTGG	0.413000														109			23		7.41877e-09	8.17068e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179569378	179569378	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179569378G>T	uc021vsy.1	-	101	26314	c.26089C>A	c.(26089-26091)Ctg>Atg	p.L8697M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.L5358M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9624	Ig-like 69.						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)			CTGGGTTCCAGTTTTTCAGTT	0.343000														33			3		6.4e-05	6.6609e-05	1	1	0
NEK8	284086	broad.mit.edu	37	17	27067558	27067558	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27067558C>T	uc002hcp.3	+	10	1495	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	499						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					GGAAGCTCAGCGAGTTGTATG	0.572000														213			22		0	0	1	0	0
C17orf85	55421	broad.mit.edu	37	17	3716516	3716516	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3716516T>G	uc010ckl.1	-	12	1708	c.1685A>C	c.(1684-1686)aAa>aCa	p.K562T	C17orf85_uc002fwr.2_Missense_Mutation_p.K272T|C17orf85_uc002fwq.2_Missense_Mutation_p.K282T	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	562							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTGATCCACTTTCTTCGTATT	0.502000														223			45		0	0	1	0	0
KLF14	136259	broad.mit.edu	37	7	130418143	130418143	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130418143C>T	uc003vqk.2	-	0	746	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCAGCTCGTCGGAACGCGTA	0.637000														26			8		0	0	1	0	0
C15orf55	256646	broad.mit.edu	37	15	34640500	34640500	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34640500C>T	uc010ucc.2	+	2	813	c.431C>T	c.(430-432)tCg>tTg	p.S144L	C15orf55_uc010ucd.2_Missense_Mutation_p.S134L|C15orf55_uc001zif.3_Missense_Mutation_p.S116L	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	116	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GCCCTCAATTCGACTGCCCCG	0.542000			T	"""BRD3, BRD4"""	lethal midline carcinoma									124			26		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33402568	33402568	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33402568C>T	uc003amx.3	-	0	242	c.80G>A	c.(79-81)cGc>cAc	p.R27H	SYN3_uc003amy.3_Missense_Mutation_p.R27H|SYN3_uc003amz.3_Missense_Mutation_p.R27H	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	27	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTATCTGGGCGTTGCAGGTC	0.592000														234			44		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329270	88329270	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329270T>G	uc001vln.3	+	1	1846	c.1627T>G	c.(1627-1629)Ttg>Gtg	p.L543V	SLITRK5_uc010tic.1_Missense_Mutation_p.L302V|SLITRK5_uc021rlc.1_Missense_Mutation_p.L543V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	543						integral to membrane		p.L543F(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTCACCTCCTTGCCAGTGAG	0.512000														204			48		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41726632	41726632	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726632G>T	uc010ehj.3	+	1	367	c.177G>T	c.(175-177)caG>caT	p.Q59H	AXL_uc010ehi.1_Missense_Mutation_p.Q59H|AXL_uc010ehk.3_Missense_Mutation_p.Q59H	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	59	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTCAGCTCCAGGTTCAGGGAG	0.642000														50			11		0.000978159	0.0010017	1	1	0
FZD9	8326	broad.mit.edu	37	7	72849501	72849501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72849501C>A	uc003tyb.3	+	0	1393	c.1164C>A	c.(1162-1164)tgC>tgA	p.C388*		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	388					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTGGGCTTTGCTACGTGGCCA	0.642000														145			14		0.000308642	0.000318063	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930552	46930552	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930552G>A	uc003gxg.3	-	8	2338	c.1355C>T	c.(1354-1356)cCa>cTa	p.P452L	GABRA4_uc021xnz.1_Missense_Mutation_p.P433L|GABRA4_uc021xoa.1_Missense_Mutation_p.P382L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	452					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGAAGCAGATGGAAGTGCTCT	0.478000														133			31		0	0	1	0	0
PGP	283871	broad.mit.edu	37	16	2264199	2264199	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264199G>A	uc002cpk.1	-	0	624	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	194					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACGAGCAGGCAGCCGGGC	0.706000														49			9		0	0	1	0	0
CRTAC1	55118	broad.mit.edu	37	10	99667810	99667810	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99667810G>A	uc001kou.2	-	5	1166	c.810C>T	c.(808-810)aaC>aaT	p.N270N	CRTAC1_uc001kov.3_Silent_p.N270N|CRTAC1_uc001kot.2_Silent_p.N60N	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	270						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGCCCCGGTTGTGGAAAA	0.627000														107			6		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11865483	11865483	+	Silent	SNP	G	A	A	rs138480985		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11865483G>A	uc002gne.3	+	67	13211	c.13143G>A	c.(13141-13143)acG>acA	p.T4381T	DNAH9_uc010coo.3_Silent_p.T3599T|DNAH9_uc002gnf.3_Silent_p.T693T	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4381					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGACATGACGAAGAAGAACA	0.552000														147			16		0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57929366	57929366	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57929366C>T	uc002qop.1	+	2	374	c.108C>T	c.(106-108)agC>agT	p.S36S	ZNF17_uc021vck.1_Silent_p.S27S|ZNF17_uc002qoo.1_Silent_p.S34S	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		ACCTGCACAGCGATGTGATGC	0.453000														269			38		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185992272	185992272	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185992272A>G	uc001grq.1	+	35	5965	c.5736A>G	c.(5734-5736)caA>caG	p.Q1912Q		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1912	Ig-like C2-type 16.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGCACATTCAACTGCATGTTC	0.373000														99			20		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37413686	37413686	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37413686C>A	uc002ofc.3	+	2	532	c.14C>A	c.(13-15)tCt>tAt	p.S5Y	ZNF568_uc010efg.3_Missense_Mutation_p.S5Y|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.S5Y|ZNF568_uc002ofd.3_Intron|ZNF568_uc010efe.3_Intron|ZNF568_uc010eff.2_5'UTR	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATCTCAATCTTCAGTGATC	0.512000														78			15		7.93312e-07	8.47869e-07	1	1	0
ZNF642	339559	broad.mit.edu	37	1	40960960	40960960	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40960960C>A	uc010ojk.2	+	5	1107	c.813C>A	c.(811-813)acC>acA	p.T271T	ZNF642_uc001cfo.3_Silent_p.T270T|ZNF642_uc009vwb.3_Silent_p.T270T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			GAACAAAAACCTATGAATGTA	0.308000														48			7		0.00198382	0.00202356	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121878882	121878882	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121878882G>A	uc001uat.3	-	19	3543	c.3439C>T	c.(3439-3441)Cgg>Tgg	p.R1147W	KDM2B_uc010szy.2_Missense_Mutation_p.R587W|KDM2B_uc001uaq.3_Missense_Mutation_p.R587W|KDM2B_uc001uar.3_Missense_Mutation_p.R738W|KDM2B_uc001uas.3_Missense_Mutation_p.R1078W|KDM2B_uc021rfd.1_Missense_Mutation_p.R1078W|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R1147W|KDM2B_uc001uao.3_Missense_Mutation_p.R395W|KDM2B_uc010szx.2_Missense_Mutation_p.R395W|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1147					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCAGGCAGCCGGTTGATGAGC	0.622000														87			15		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104122724	104122724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104122724C>T	uc001tjw.3	+	47	5219	c.5033C>T	c.(5032-5034)tCa>tTa	p.S1678L	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1678	FAS1 5.				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						AAATTGATCTCAAATGCTACT	0.493000														158			30		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56407480	56407480	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56407480G>A	uc010ygg.2	-	10	2988	c.2963C>T	c.(2962-2964)gCg>gTg	p.A988V		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	988							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATTGCATTTCGCCAACCTAGG	0.458000														131			38		0	0	1	0	0
GSG2	83903	broad.mit.edu	37	17	3628844	3628844	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628844T>C	uc002fwp.3	+	0	1648	c.1615T>C	c.(1615-1617)Tcc>Ccc	p.S539P	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	539	Protein kinase.				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GATCATCATCTCCAAAGAGTT	0.473000														118			20		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79403918	79403918	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79403918C>T	uc001diq.4	-	4	599	c.443G>A	c.(442-444)aGa>aAa	p.R148K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	148					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CACAGAATTTCTATAGACTTC	0.318000														52			6		0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45423418	45423418	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45423418C>T	uc001jbn.2	+	1	317	c.120C>T	c.(118-120)agC>agT	p.S40S	TMEM72-AS1_uc001jbk.1_Intron|TMEM72_uc009xmm.1_Intron	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	Homo sapiens transmembrane protein 72 (TMEM72), mRNA.	40						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						AGTTCAAAAGCCTGGCTTTCT	0.517000														110			29		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185074810	185074810	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:185074810G>T	uc003iwc.3	-	1	460	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	106					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CTTTGTTGACGCCAATGTCAA	0.502000														92			6		8.12818e-05	8.44191e-05	1	1	0
ZNF782	158431	broad.mit.edu	37	9	99581773	99581773	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581773C>T	uc004awp.1	-	5	813	c.532G>A	c.(532-534)Ggc>Agc	p.G178S	ZNF782_uc011lup.1_Missense_Mutation_p.G46S	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTAGTTCTGCCATCCTTAATA	0.413000														101			16		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169229212	169229212	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169229212C>T	uc003irp.3	-	3	501	c.209G>A	c.(208-210)cGc>cAc	p.R70H		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	70							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CACAAGATAGCGTTCAACCAG	0.338000														81			14		0	0	1	0	0
ADH4	127	broad.mit.edu	37	4	100057801	100057801	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100057801G>A	uc003hun.3	-	4	474	c.398C>T	c.(397-399)aCc>aTc	p.T133I	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.T152I	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	133					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AAACCTGCTGGTTTTGTCTTC	0.338000														75			21		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86302248	86302248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86302248C>T	uc002sqs.3	-	11	1895	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	506					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCGCTCAGGGCTGTGCGGCTG	0.602000														70			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179462481	179462481	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462481T>A	uc021vsy.1	-	242	49849	c.49624A>T	c.(49624-49626)Atc>Ttc	p.I16542F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I10237F|TTN_uc021vta.1_Missense_Mutation_p.I10170F|TTN_uc021vtb.1_Missense_Mutation_p.I10045F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17469	Fibronectin type-III 20.						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)			ATGATTCGGATCACCCCTCCA	0.453000														88			17		0	0	1	0	0
WT1-AS	51352	broad.mit.edu	37	11	32460538	32460538	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32460538G>A	uc021qfr.1	+	0		c.1064G>A			WT1-AS_uc010rec.2_Non-coding_Transcript|WT1-AS_uc010red.2_Non-coding_Transcript					Homo sapiens Wilms tumor upstream neighbor 1, mRNA (cDNA clone IMAGE:3633024).											endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AAAAATCGAGGCTGGGTAGGA	0.562000														103			20		0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72754977	72754977	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72754977C>A	uc003xyx.1	-	1	858	c.540G>T	c.(538-540)tgG>tgT	p.W180C	LOC100132891_uc011lff.2_5'Flank|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	180					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			CCACGAATGGCCATGTCTGTA	0.473000														465			27		4.87955e-14	5.71551e-14	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107434631	107434631	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107434631C>A	uc004enw.4	-	18	1419	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V	COL4A6_uc004env.4_Missense_Mutation_p.G438V|COL4A6_uc011msn.2_Missense_Mutation_p.G438V|COL4A6_uc010npk.3_Missense_Mutation_p.G438V	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	439	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTAGGTGGGCCTGGTGGACC	0.542000									Alport syndrome with Diffuse Leiomyomatosis					237			46		5.37117e-13	6.23725e-13	1	1	0
RNF24	11237	broad.mit.edu	37	20	3914846	3914846	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3914846C>T	uc002wkj.2	-	5	451	c.311G>A	c.(310-312)tGc>tAc	p.C104Y	RNF24_uc002wkh.2_Missense_Mutation_p.C104Y|RNF24_uc002wki.2_Missense_Mutation_p.C125Y	NM_001134337	NP_009150	Q9Y225	RNF24_HUMAN	Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA.	104						Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						CTTAATAAGGCACCTGCAGAA	0.542000														116			29		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140783390	140783390	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140783390C>A	uc003lkh.2	+	0	871	c.871C>A	c.(871-873)Cta>Ata	p.L291I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.L291I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	292	Cadherin 3.				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)			ACAATCTCTGCTATTCCAGCT	0.383000														152			25		1.10923e-09	1.2355e-09	1	1	0
SMOC1	64093	broad.mit.edu	37	14	70346414	70346414	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70346414G>A	uc001xlt.2	+	0	301	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	SMOC1_uc001xls.2_Missense_Mutation_p.A7T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	7					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CGCGCGCTGCGCCCGCCTGCT	0.736000														29			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107754	168107754	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168107754G>A	uc002udx.3	+	8	9941	c.9852G>A	c.(9850-9852)gtG>gtA	p.V3284V	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.V3109V|XIRP2_uc010fpq.3_Silent_p.V3062V|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3109					actin cytoskeleton organization	cell junction	actin binding			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						ATCACATGGTGCCCGACACTG	0.473000														163			52		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134010555	134010555	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134010555C>A	uc009ybb.3	+	5	725	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	191					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CATCCGGGACCTGGGGGCCTT	0.682000														37			11		4.68919e-08	5.11014e-08	1	1	0
FCN1	2219	broad.mit.edu	37	9	137804960	137804960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137804960G>A	uc004cfi.3	-	5	459	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	124	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)		AAATACCCCCGGTCTAGCAGG	0.682000														65			17		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35841947	35841947	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35841947G>A	uc001iyw.4	+	8	760	c.580_splice	c.e8-1	p.V194_splice	CCNY_uc001iyu.4_Splice_Site_p.V140_splice|CCNY_uc001iyv.4_Splice_Site_p.V140_splice|CCNY_uc001iyx.4_Splice_Site_p.V140_splice|CCNY_uc009xmb.3_Splice_Site_p.V169_splice|CCNY_uc010qet.2_Splice_Site_p.V61_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	194	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						GTCTTCCCAGGTGTACCTTGA	0.438000														109			32		0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129299465	129299465	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129299465C>T	uc001uhu.2	-	1	750	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SLC15A4_uc001uhv.2_Non-coding_Transcript|AK001057_uc001uhw.3_5'Flank	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	233					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.C232C(1)|p.C232*(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GCAAGGCCGACGCAGACAGTG	0.517000														167			45		0	0	1	0	0
IRX5	10265	broad.mit.edu	37	16	54967479	54967479	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54967479G>A	uc002ehv.3	+	2	1146	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	IRX5_uc021tin.1_Silent_p.P381P|IRX5_uc002ehw.3_Silent_p.P316P	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	382					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCCCGGCGCCGTCACGCTCGC	0.716000														56			11		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98709695	98709695	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98709695G>A	uc002syo.3	+	1	404	c.140G>A	c.(139-141)aGc>aAc	p.S47N	VWA3B_uc010yvh.2_5'UTR|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_5'UTR|VWA3B_uc002sym.3_Missense_Mutation_p.S47N|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	47										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GGGCTTAAGAGCAACAAATTG	0.448000														193			20		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341875	121341875	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341875A>G	uc003eeg.2	+	2	1809	c.1599A>G	c.(1597-1599)aaA>aaG	p.K533K		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	533					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAAGGCAAAAGTAATCTATA	0.507000														92			22		0	0	1	0	0
ARHGAP6	395	broad.mit.edu	37	X	11160378	11160378	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11160378G>A	uc004cup.1	-	11	3105	c.2232C>T	c.(2230-2232)agC>agT	p.S744S	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.S541S|ARHGAP6_uc004cun.1_Silent_p.S564S	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	744					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding	p.S744S(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTTGGATCCGCTTTTTAATG	0.303000														94			27		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117303203	117303203	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117303203T>G	uc001prh.1	-	29	5226	c.5224A>C	c.(5224-5226)Atc>Ctc	p.I1742L		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1682					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCACAGGGATGGTGGCCTTG	0.488000														137			20		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8228996	8228996	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8228996G>A	uc003gkv.4	+	11	1676	c.1575G>A	c.(1573-1575)tgG>tgA	p.W525*	SH3TC1_uc003gkw.4_Nonsense_Mutation_p.W449*|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	525							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CGCTGCCGTGGCTGAGCAGCG	0.677000														65			11		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303910	6303910	+	Silent	SNP	C	T	T	rs71532868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303910C>T	uc003giy.3	+	7	2554	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	WFS1_uc003gix.3_Silent_p.D796D|WFS1_uc003giz.3_Silent_p.D614D	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	796					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GCGAGGAGGACGACGTCACCA	0.627000														106			32		0	0	1	0	0
NDUFS7	374291	broad.mit.edu	37	19	1391124	1391124	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1391124G>A	uc002lsf.2	+	6	716	c.607G>A	c.(607-609)Gac>Aac	p.D203N	NDUFS7_uc002lsh.3_Missense_Mutation_p.D203N|NDUFS7_uc002lsg.2_Missense_Mutation_p.D146N|NDUFS7_uc002lse.4_Missense_Mutation_p.D139N			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	139					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	NADH(DB00157)	CCAGGTCTACGACCAGATGCC	0.692000														46			16		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231115	70231115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231115G>A	uc003tvw.4	+	8	2219	c.1484G>A	c.(1483-1485)cGa>cAa	p.R495Q	AUTS2_uc003tvx.4_Missense_Mutation_p.R495Q|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	495										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACATCTTGCGACAGGAACTG	0.582000														160			36		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146032209	146032209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146032209G>A	uc003ijx.3	+	7	1143	c.703G>A	c.(703-705)Gct>Act	p.A235T	ABCE1_uc003ijy.3_Missense_Mutation_p.A235T|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	235	ABC transporter 1.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATACAGAAAGCTGATATGTA	0.358000														67			12		0	0	1	0	0
B3GAT3	26229	broad.mit.edu	37	11	62388054	62388054	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62388054G>A	uc001ntw.3	-	1	400	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.L51F|B3GAT3_uc010rlz.2_Missense_Mutation_p.L58F	NM_012200	NP_036332	O94766	B3GA3_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA.	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GGCCGTCGGAGTTCCGCTTGC	0.647000														33			10		0	0	1	0	0
MBL1P	8512	broad.mit.edu	37	10	81667591	81667591	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81667591G>A	uc021puw.1	+	2		c.529G>A								Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) pseudogene (LOC100288974), non-coding RNA.																		TGAGATCAGAGGCCCTGTGAT	0.483000														91			18		0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358493	112358493	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112358493C>T	uc003dzf.3	-	1	478	c.260G>A	c.(259-261)cGc>cAc	p.R87H	CCDC80_uc011bhv.2_Missense_Mutation_p.R87H|CCDC80_uc003dzg.3_Missense_Mutation_p.R87H|CCDC80_uc003dzh.1_Missense_Mutation_p.R87H	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	87										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTCTGTTGGGCGAGCTAGTCT	0.602000														278			24		0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139876204	139876204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139876204C>T	uc003lfs.2	+	14	2499	c.2345C>T	c.(2344-2346)aCt>aTt	p.T782I	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.T801I|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.T782I|ANKHD1-EIF4EBP3_uc003lft.1_Intron|ANKHD1-EIF4EBP3_uc003lfu.1_Missense_Mutation_p.T262I|ANKHD1-EIF4EBP3_uc003lfv.1_Intron	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	782						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAGGAGACTGAAGGCAAG	0.453000														116			24		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943182	26943182	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943182G>A	uc002hbu.3	-	36	6425	c.6322C>T	c.(6322-6324)Cga>Tga	p.R2108*	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2108						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCAGCTCGCTCTTTCATC	0.478000														68			20		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77625140	77625140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77625140C>T	uc021rks.1	-	81	14180	c.13913G>A	c.(13912-13914)tGt>tAt	p.C4638Y	MYCBP2_uc010aev.3_Missense_Mutation_p.C4004Y|MYCBP2_uc001vke.3_Missense_Mutation_p.C1217Y	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCTGCAGGACAGTGTGGTAG	0.318000														78			11		0	0	1	0	0
OR7G3	390883	broad.mit.edu	37	19	9237060	9237060	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9237060A>G	uc010xkl.2	-	0	567	c.567T>C	c.(565-567)tgT>tgC	p.C189C		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGACATCAGAACAGGCGAGCT	0.458000														95			21		0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88328012	88328012	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328012G>A	uc002sso.1	-	3	465	c.71C>T	c.(70-72)gCc>gTc	p.A24V	KRCC1_uc002ssp.1_Missense_Mutation_p.A24V|KRCC1_uc021vko.1_Missense_Mutation_p.A24V	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	24										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TAAGCCTCTGGCTTTCTGTAC	0.378000														75			18		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367319	367319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367319C>T	uc003gaa.2	+	3	1270	c.1093C>T	c.(1093-1095)Cgg>Tgg	p.R365W	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	365					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TACTGGAGAGCGGCCCTACAA	0.408000														69			24		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109202616	109202616	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109202616C>T	uc003kou.1	+	21	4315	c.3352C>T	c.(3352-3354)Cat>Tat	p.H1118Y		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	1118					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATCCTTGATGCATTCACCTCC	0.358000														135			7		0	0	1	0	0
CIB1	10519	broad.mit.edu	37	15	90774380	90774380	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90774380C>A	uc002bpb.4	-	4	574	c.412G>T	c.(412-414)Gag>Tag	p.E138*		NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	138	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TCCTCGCCCTCTCCCGTGAGG	0.582000														153			20		1.15919e-05	1.21889e-05	1	1	0
TBX20	57057	broad.mit.edu	37	7	35284653	35284653	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35284653C>A	uc011kas.2	-	3	1042	c.562G>T	c.(562-564)Gat>Tat	p.D188Y		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	188						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AAAGGAGAATCTGGATGCACA	0.368000														38			10		3.86212e-05	4.026e-05	1	1	0
PPP1R13L	10848	broad.mit.edu	37	19	45889369	45889369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45889369C>T	uc002pbn.3	-	8	1962	c.1885G>A	c.(1885-1887)Gtg>Atg	p.V629M	PPP1R13L_uc002pbm.3_Missense_Mutation_p.V208M|PPP1R13L_uc002pbo.3_Missense_Mutation_p.V629M	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	629					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGAGGAGCACCAGAGGGTTG	0.736000														27			6		0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32151969	32151969	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32151969C>T	uc003oal.2	-	0	131	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	AGER_uc021yvm.1_5'UTR|AGER_uc021yvn.1_5'UTR|AGER_uc010jtw.2_Non-coding_Transcript|AGER_uc021yvp.1_5'UTR|AGER_uc021yvq.1_5'UTR|AGER_uc011dpn.2_5'UTR|AGER_uc011dpm.2_5'UTR|AGER_uc003oap.2_Missense_Mutation_p.V11M|AGER_uc021yvr.1_Missense_Mutation_p.V11M|AGER_uc003oam.2_Non-coding_Transcript|AGER_uc003oau.2_Missense_Mutation_p.V11M|AGER_uc003oas.2_Missense_Mutation_p.V11M|AGER_uc010jtv.2_Missense_Mutation_p.V11M|AGER_uc003oar.3_5'UTR|AGER_uc003oaq.2_Missense_Mutation_p.V11M|AGER_uc003oat.2_Missense_Mutation_p.V11M|AGER_uc003oan.2_Missense_Mutation_p.V11M|AGER_uc011dpo.2_5'UTR|AGER_uc003oao.2_Non-coding_Transcript|AGER_uc021yvo.1_5'UTR|AGER_uc011dpp.2_Missense_Mutation_p.V42M|AGER_uc011dpq.2_Missense_Mutation_p.V42M|AGER_uc011dpr.2_Missense_Mutation_p.V42M|AGER_uc011dps.2_Missense_Mutation_p.V42M	NM_001136	NP_001127	Q15109	RAGE_HUMAN	Homo sapiens advanced glycosylation end product-specific receptor (AGER), transcript variant 1, mRNA.	11					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGACCAGCACCCAGGCTCCA	0.627000														54			10		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139911650	139911650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139911650C>T	uc004ckm.1	-	17	2688	c.2638G>A	c.(2638-2640)Gcg>Acg	p.A880T	ABCA2_uc022bpy.1_Missense_Mutation_p.A781T|ABCA2_uc022bpz.1_Missense_Mutation_p.A851T|ABCA2_uc011mem.1_Missense_Mutation_p.A850T|ABCA2_uc004ckl.1_Missense_Mutation_p.A781T|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	850					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCCTCACCGCGATGCACTTC	0.637000														213			44		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18721548	18721548	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18721548G>A	uc003zne.4	+	14	2043	c.1891G>A	c.(1891-1893)Gtg>Atg	p.V631M		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	631	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCAGGAGGCTGTGGTGAGCTG	0.587000														287			15		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99863270	99863270	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99863270G>A	uc002szw.1	-	2	170	c.57C>T	c.(55-57)ggC>ggT	p.G19G	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_Silent_p.G19G|LYG2_uc002szx.1_Silent_p.G19G	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	19				G -> S (in Ref. 4; AAK16605/AAO32945).	cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						AGGGGTATGAGCCCCTGGAAG	0.498000														127			26		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122680	119122680	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122680G>A	uc003yok.1	-	0	1379	c.606C>T	c.(604-606)gaC>gaT	p.D202D		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	202					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CCTCGGTGTAGTCAGGCCAAG	0.458000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					204			44		0	0	1	0	0
SRSF6	6431	broad.mit.edu	37	20	42089579	42089579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089579C>T	uc010zwg.2	+	5	1081	c.911C>T	c.(910-912)cCg>cTg	p.P304L	SRSF6_uc002xki.3_Missense_Mutation_p.P175L	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	304	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TCCAATTCGCCGCTACCTGTT	0.493000														142			25		0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27939553	27939553	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27939553A>G	uc001boj.3	-	10	1608	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	FGR_uc001boi.3_Missense_Mutation_p.Y191H|FGR_uc001bok.3_Missense_Mutation_p.Y488H|FGR_uc001bol.3_Missense_Mutation_p.Y488H|FGR_uc001bom.3_Missense_Mutation_p.Y488H	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	488	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATGGCCTCGTACAGGGATGCT	0.597000														115			12		0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131520710	131520710	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131520710G>A	uc003qck.3	+	5	777	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GGCTCCGTAAGAATGTGAGTG	0.453000											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			7		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72828120	72828120	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72828120C>A	uc002fck.3	-	8	9134	c.8461G>T	c.(8461-8463)Gtt>Ttt	p.V2821F	ZFHX3_uc002fcl.3_Missense_Mutation_p.V1907F	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2821					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTAGATTAACTGAGGACATG	0.458000														197			13		9.05144e-12	1.03561e-11	1	1	0
CDC14A	8556	broad.mit.edu	37	1	100964692	100964692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100964692C>T	uc001dtf.2	+	14	2117	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	CDC14A_uc010oui.1_Silent_p.N485N|CDC14A_uc009wed.1_Silent_p.N250N|CDC14A_uc001dtg.4_Silent_p.N543N|CDC14A_uc009wee.3_Silent_p.N543N	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	543					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		GCAACAGCAACGGGGGCAACC	0.562000														122			20		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156640644	156640644	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156640644G>A	uc001fpq.3	-	3	3469	c.3336C>T	c.(3334-3336)ggC>ggT	p.G1112G	NES_uc021pbh.1_Silent_p.G30G	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1112	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGTCAGATGGCCTGGGTCCC	0.642000														120			21		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913689	28913689	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28913689C>T	uc002dro.1	+	16	2690	c.2506C>T	c.(2506-2508)Cgc>Tgc	p.R836C	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R836C|ATP2A1_uc002drp.1_Missense_Mutation_p.R711C	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	836					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GCTCTTCTTCCGCTACATGGC	0.662000														217			18		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113309541	113309541	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113309541T>C	uc002thw.2	+	5	1532	c.952T>C	c.(952-954)Tac>Cac	p.Y318H	POLR1B_uc010fkn.2_Missense_Mutation_p.Y262H|POLR1B_uc002thx.2_Missense_Mutation_p.Y179H|POLR1B_uc010fko.2_Missense_Mutation_p.Y318H|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.Y179H|POLR1B_uc010yxo.1_Missense_Mutation_p.Y95H	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	318					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGACTGGTACCCAAATGA	0.438000														122			35		0	0	1	0	0
SLC34A3	142680	broad.mit.edu	37	9	140130446	140130446	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140130446C>A	uc022bqf.1	+	12	1599	c.1378C>A	c.(1378-1380)Ctg>Atg	p.L460M	SLC34A3_uc011met.2_Missense_Mutation_p.L460M|SLC34A3_uc004cmf.1_Missense_Mutation_p.L460M	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	460					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGCATCCTGCTGTGGTACCT	0.697000											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		218			40		1.22674e-20	1.49977e-20	1	1	0
METAP1	23173	broad.mit.edu	37	4	99969935	99969935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99969935C>T	uc003huf.4	+	8	956	c.839C>T	c.(838-840)gCc>gTc	p.A280V	METAP1_uc003hug.3_Non-coding_Transcript|METAP1_uc010ild.3_Intron	NM_015143	NP_055958	P53582	AMPM1_HUMAN	Homo sapiens methionyl aminopeptidase 1 (METAP1), mRNA.	280					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CAGAAGCATGCCCAAGCAAAT	0.398000														124			41		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8161476	8161476	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8161476C>A	uc002gkr.3	+	10	1436	c.1295C>A	c.(1294-1296)tCc>tAc	p.S432Y	PFAS_uc010vuv.2_Missense_Mutation_p.S8Y	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	432					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCATTGGGTCCATGGAAGCT	0.607000														180			39		4.92203e-23	6.08522e-23	1	1	0
WASH1	100287171	broad.mit.edu	37	9	17145	17145	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17145C>T	uc010mgm.1	-	6	846	c.703G>A	c.(703-705)Gtg>Atg	p.V235M	WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Missense_Mutation_p.V248M	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	235					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	WASH complex|early endosome membrane|recycling endosome membrane	actin binding|alpha-tubulin binding					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)		AGGTCTGGCACATAGAAGTAG	0.592000														41			7		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56926867	56926867	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56926867G>T	uc002ekd.4	+	20	2478	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	SLC12A3_uc010ccm.3_Missense_Mutation_p.D808Y|SLC12A3_uc010ccn.3_Missense_Mutation_p.D816Y	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	808					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCTGCAGTGGACCCCAAGGC	0.642000														77			21		7.45023e-12	8.53574e-12	1	1	0
NAA25	80018	broad.mit.edu	37	12	112509748	112509748	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112509748C>A	uc001ttm.3	-	9	1045	c.987G>T	c.(985-987)gaG>gaT	p.E329D	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.E301D|NAA25_uc009zwa.2_Missense_Mutation_p.E329D	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	329						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GCCTAATCAGCTCCAATTTAG	0.413000														72			23		1.1804e-14	1.38988e-14	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134188633	134188633	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134188633C>T	uc010quw.1	+	10	1675	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Nonsense_Mutation_p.R494*|LRRC27_uc001llj.2_Nonsense_Mutation_p.R432*	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	494										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CAAAGATCGTCGACGGGCGGC	0.468000														116			31		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049199	70049199	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049199G>T	uc001svg.3	-	9	1722	c.1495C>A	c.(1495-1497)Ctg>Atg	p.L499M	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.L286M|BEST3_uc010stm.2_Missense_Mutation_p.L393M	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	499						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAGGTACCAGTGGCATTTTG	0.547000														267			35		1.26612e-14	1.49017e-14	1	1	0
PCNT	5116	broad.mit.edu	37	21	47769052	47769052	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769052C>T	uc002zji.4	+	6	1266	c.1159C>T	c.(1159-1161)Cag>Tag	p.Q387*	PCNT_uc002zjj.3_Nonsense_Mutation_p.Q269*|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	387	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.E386G(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ATTGGCAGAACAGAGAGCTGA	0.368000														159			14		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1585273	1585273	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1585273C>T	uc002fte.3	-	4	608	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	165						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		AGGGGGAAAACGCATCCTCTT	0.502000														123			35		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43411317	43411317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411317G>A	uc021wjo.1	-	0	2888	c.2888C>T	c.(2887-2889)gCt>gTt	p.A963V	ZNF295_uc002yzz.4_Missense_Mutation_p.A762V|ZNF295_uc002zab.4_Missense_Mutation_p.A963V|ZNF295_uc002yzy.4_Missense_Mutation_p.A963V|ZNF295_uc002zaa.4_Missense_Mutation_p.A963V	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	963					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TTCCTCTGAAGCCTGAGACAT	0.507000														179			17		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195486010	195486010	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195486010C>T	uc021xjp.1	-	16	15127	c.14971G>A	c.(14971-14973)Gac>Aac	p.D4991N	MUC4_uc003fuz.3_Missense_Mutation_p.D589N|MUC4_uc003fva.3_Missense_Mutation_p.D471N|MUC4_uc003fvb.3_Missense_Mutation_p.D507N|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.D507N|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.D500N|MUC4_uc021xjn.1_Missense_Mutation_p.D680N|MUC4_uc021xjo.1_Missense_Mutation_p.D471N|MUC4_uc021xjg.1_Missense_Mutation_p.D471N|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.D555N|MUC4_uc021xjj.1_Missense_Mutation_p.D555N|MUC4_uc021xjk.1_Missense_Mutation_p.D732N|MUC4_uc021xjl.1_Missense_Mutation_p.D471N|MUC4_uc003fvo.3_Missense_Mutation_p.D755N|MUC4_uc003fvp.3_Missense_Mutation_p.D704N	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1748					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTCCAAGTCGGTGCAGCTG	0.532000														404			74		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060787	40060787	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060787G>A	uc003ayc.3	+	20	3710	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	CACNA1I_uc003ayd.3_Missense_Mutation_p.R1202H|CACNA1I_uc003aye.3_Missense_Mutation_p.R1152H|CACNA1I_uc003ayf.3_Missense_Mutation_p.R1117H	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1237					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)	GCGTACCTACGCAGCAGCTGG	0.682000														67			7		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25418028	25418028	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25418028A>C	uc001upr.3	+	19	2791	c.2750A>C	c.(2749-2751)gAa>gCa	p.E917A	RNF17_uc010tdd.1_Missense_Mutation_p.E776A|RNF17_uc010tde.2_Missense_Mutation_p.E917A|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E856A|RNF17_uc010aac.3_Missense_Mutation_p.E115A|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	917					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TATAATAAGGAATTGCCTGTG	0.294000														43			12		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690413	99690413	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690413C>T	uc001pga.3	+	3	698	c.194C>T	c.(193-195)tCt>tTt	p.S65F	CNTN5_uc009ywv.2_Missense_Mutation_p.S65F|CNTN5_uc001pfz.3_Missense_Mutation_p.S65F|CNTN5_uc021qpb.1_Missense_Mutation_p.S65F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	65					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTGAGTGCTTCTTCACCCAGC	0.428000														78			8		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70948515	70948515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70948515C>T	uc003kbs.4	+	15	1646	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	503	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GCTGATGAAGCGGCTTTAAAA	0.443000														57			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39264502	39264502	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264502G>A	uc001uwv.3	+	0	3330	c.3021G>A	c.(3019-3021)agG>agA	p.R1007R		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1007					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTACTCAAAGGGACATCTTGG	0.448000														174			23		0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91657411	91657411	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657411T>C	uc003yen.2	-	0	723	c.723A>G	c.(721-723)ggA>ggG	p.G241G	TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Silent_p.G241G|BC040572_uc003yep.3_5'Flank	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	Homo sapiens transmembrane protein 64 (TMEM64), transcript variant 1, mRNA.	241						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TCAGGCCGCTTCCTCCCTCCA	0.617000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		126			27		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40659920	40659920	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40659920G>A	uc001zlk.1	+	7	1696	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	536	SSD.				smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GTGGCCTTCCGCATGGCCTAC	0.617000														119			34		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140553895C>T	uc003lit.3	+	0	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667000														366			66		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57496520	57496520	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57496520A>G	uc003dit.2	-	4	647	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L	DNAH12_uc003diu.2_Silent_p.L156L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	156	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TACTTACCCAAATATCTCTTC	0.398000														71			10		0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76484318	76484318	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76484318C>T	uc002bbq.3	+	8	933	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	C15orf27_uc010bkp.3_Missense_Mutation_p.R76W|C15orf27_uc002bbr.3_Missense_Mutation_p.R76W|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	260						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						GTTTGAGATCCGGCAGCTGCG	0.736000														51			10		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687142	159687142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159687142G>A	uc010kjv.3	+	20	5511	c.5311G>A	c.(5311-5313)Gct>Act	p.A1771T		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1771						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GATCCCATTCGCTTTCAAACA	0.483000														91			9		0	0	1	0	0
CAMK2D	817	broad.mit.edu	37	4	114430832	114430832	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114430832C>A	uc003ibi.3	-	13	1806	c.947_splice	c.e13-1	p.A316_splice	CAMK2D_uc003ibj.3_Splice_Site_p.A316_splice|CAMK2D_uc003ibk.3_Splice_Site_p.A316_splice|CAMK2D_uc003ibo.4_Splice_Site_p.A316_splice|CAMK2D_uc003ibm.2_Splice_Site_p.A316_splice|CAMK2D_uc003ibn.2_Splice_Site_p.A316_splice|CAMK2D_uc003ibl.2_Splice_Site_p.A316_splice	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	316					interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		CTCTTGGCTGCTGTAAAATGA	0.393000														45			5		0.014758	0.0149061	1	1	0
UGT2B10	7365	broad.mit.edu	37	4	69682216	69682216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69682216C>T	uc003hee.3	+	0	504	c.479C>T	c.(478-480)gCt>gTt	p.A160V	UGT2B10_uc011cam.2_Intron	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	160					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAGCTGCTGGCTGAGCTATTT	0.393000														171			29		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18031740	18031740	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18031740G>A	uc010gqw.1	+	16	4230	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	CECR2_uc010gqv.1_Silent_p.S1270S|CECR2_uc002zml.2_Silent_p.S1271S|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1454					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding	p.V1410V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGTCCAGTCGCAGGCCTCGT	0.507000														129			23		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729786	42729786	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42729786C>T	uc003clv.1	+	1	1405	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	435								p.Y435C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCATGTGCTACGACAGGCTGT	0.642000														121			37		0	0	1	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122989	36122989	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36122989G>A	uc003jkb.1	-	7	1312	c.897C>T	c.(895-897)atC>atT	p.I299I		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	299						integral to membrane		p.S298G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTGGATAGATACTATGCT	0.269000														38			4		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26574818	26574818	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26574818G>A	uc001mqt.4	+	12	1457	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ANO3_uc010rdr.2_Missense_Mutation_p.E422K|ANO3_uc010rds.2_Missense_Mutation_p.E277K|ANO3_uc010rdt.2_Missense_Mutation_p.E292K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	438						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TAAAGCCACTGAAGTCTTTAT	0.423000														271			56		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022006	18022006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022006C>T	uc010gqw.1	+	14	2102	c.2102C>T	c.(2101-2103)gCt>gTt	p.A701V	CECR2_uc010gqv.1_Missense_Mutation_p.A562V|CECR2_uc002zml.2_Missense_Mutation_p.A562V	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	745					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGCATGTATGCTCCAGCTCAG	0.582000														48			10		0	0	1	0	0
ASIC3	9311	broad.mit.edu	37	7	150746403	150746403	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150746403T>G	uc003wio.2	+	0	799	c.431T>G	c.(430-432)tTt>tGt	p.F144C	ASIC3_uc003win.2_Missense_Mutation_p.F144C|ASIC3_uc003wip.2_Missense_Mutation_p.F144C|ASIC3_uc003wiq.2_Non-coding_Transcript	NM_020321	NP_064717	Q9UHC3	ACCN3_HUMAN	Homo sapiens amiloride-sensitive cation channel 3 (ACCN3), transcript variant 2, mRNA.	144					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										AGTCCCACCTTTGACATGGCG	0.677000														133			36		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101019	27101019	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27101019C>T	uc001bmv.1	+	17	4674	c.4301C>T	c.(4300-4302)gCc>gTc	p.A1434V	ARID1A_uc001bmt.1_Missense_Mutation_p.A1433V|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Missense_Mutation_p.A1051V|ARID1A_uc001bmx.1_Missense_Mutation_p.A280V|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1434					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TATGGCAATGCCTATCCTGCC	0.617000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									159			48		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085153	64085153	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085153G>A	uc003dmf.3	-	7	2695	c.2109C>T	c.(2107-2109)agC>agT	p.S703S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	703	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding	p.S703N(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCGCGTTCGCTGGCCAGGT	0.617000														153			39		0	0	1	0	0
C9orf123	90871	broad.mit.edu	37	9	7799703	7799703	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799703G>T	uc003zki.3	-	0	76	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	C9orf123_uc022bdi.1_Missense_Mutation_p.S11Y|C9orf123_uc003zkj.3_Missense_Mutation_p.S11Y			Q96GE9	CI123_HUMAN	Homo sapiens chromosome 9 open reading frame 123 (C9orf123), mRNA.	11						integral to membrane				lung(1)	1		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		AGTGATATAGGACTCAAAAGG	0.642000														86			14		2.61681e-11	2.97614e-11	1	1	0
ZNF655	79027	broad.mit.edu	37	7	99170087	99170087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99170087G>A	uc010lga.3	+	3	854	c.461G>A	c.(460-462)aGc>aAc	p.S154N	ZNF655_uc003urh.3_Missense_Mutation_p.S119N|ZNF655_uc010lgc.3_Missense_Mutation_p.S154N|ZNF655_uc003urj.3_Missense_Mutation_p.S119N|ZNF655_uc003urk.3_5'UTR|ZNF655_uc010lgd.3_5'UTR	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	119					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					ATAACAATCAGCAAGGAAACC	0.388000														98			18		0	0	1	0	0
CCDC151	115948	broad.mit.edu	37	19	11534691	11534691	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11534691C>T	uc002mrs.3	-	7	1114	c.971G>A	c.(970-972)cGc>cAc	p.R324H	CCDC151_uc002mrr.3_Missense_Mutation_p.R259H|CCDC151_uc010dxz.3_Missense_Mutation_p.R264H	NM_145045	NP_659482	A5D8V7	CC151_HUMAN	Homo sapiens coiled-coil domain containing 151 (CCDC151), mRNA.	324										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						CAGGTGCTCGCGGTGGGTCTG	0.662000														346			81		0	0	1	0	0
PAFAH1B1	5048	broad.mit.edu	37	17	2576029	2576029	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2576029A>C	uc002fuw.4	+	6	1217	c.649A>C	c.(649-651)Aaa>Caa	p.K217Q	PAFAH1B1_uc010ckb.2_Non-coding_Transcript|PAFAH1B1_uc010vqz.2_Missense_Mutation_p.K46Q	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	217	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAAACTATAAAAATGTGGGA	0.463000														54			13		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10304205	10304205	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10304205T>A	uc002gmm.2	-	25	3421	c.3326A>T	c.(3325-3327)aAg>aTg	p.K1109M	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1109					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTGATCTTCTTCTGTAGTTG	0.343000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					72			6		0	0	1	0	0
TUBA8	51807	broad.mit.edu	37	22	18609586	18609586	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18609586G>A	uc002znw.1	+	2	1210	c.913G>A	c.(913-915)Gcc>Acc	p.A305T	TUBA8_uc002znv.2_Missense_Mutation_p.A281T|TUBA8_uc021wkt.1_Missense_Mutation_p.A215T	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	281					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TGCCGAGAAAGCCTATCACGA	0.582000														205			51		0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47787442	47787442	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47787442C>T	uc002lee.2	-	2	556	c.465G>A	c.(463-465)caG>caA	p.Q155Q		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	155										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		ACCTGAATTGCTGGTCTAGCT	0.313000														112			21		0	0	1	0	0
ALX1	8092	broad.mit.edu	37	12	85695100	85695100	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85695100C>A	uc001tae.4	+	3	832	c.828C>A	c.(826-828)ccC>ccA	p.P276P		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	276					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCCACGTGCCCCTCAACAATT	0.478000														184			14		4.7546e-09	5.25358e-09	1	1	0
LRRC43	254050	broad.mit.edu	37	12	122677357	122677357	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122677357C>T	uc009zxm.3	+	6	1180	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	LRRC43_uc001ubw.4_Silent_p.D200D|LRRC43_uc009zxn.3_Silent_p.D146D	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	385	Glu-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		TCGTGGAAGACGTCATCGAAG	0.517000														120			30		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1396176	1396176	+	Silent	SNP	C	T	T	rs115798223	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1396176C>T	uc002clk.2	+	24	2570	c.2412C>T	c.(2410-2412)tgC>tgT	p.C804C	BAIAP3_uc010uuz.2_Silent_p.C769C|BAIAP3_uc010uva.2_Silent_p.C741C|BAIAP3_uc021tag.1_Silent_p.C746C|BAIAP3_uc002clj.3_Silent_p.C786C|BAIAP3_uc010uvc.1_Silent_p.C733C	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	804					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCAGCTCTGCGTGGTCCTCA	0.711000														86			12		0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362640	105362640	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362640G>A	uc010qqu.1	-	11	2147	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.R586W|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.R628W|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.R586W|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.R751W	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	779	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCTGGCGCCGTAAAGTGCTG	0.647000														593			143		0	0	1	0	0
LINC00336	401253	broad.mit.edu	37	6	33555525	33555525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33555525C>T	uc003oew.1	-	1	465	c.463G>A	c.(463-465)Gca>Aca	p.A155T	GGNBP1_uc021ywq.1_Intron|GGNBP1_uc003oev.3_Intron					Homo sapiens long intergenic non-protein coding RNA 336 (LINC00336), non-coding RNA.																		GAAAGACTTGCCACCTGGggc	0.552000														90			8		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114515703	114515703	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114515703C>T	uc003kqs.3	-	0	541	c.32G>A	c.(31-33)gGc>gAc	p.G11D	TRIM36_uc003kqt.3_5'UTR|TRIM36_uc003kqu.2_Missense_Mutation_p.G11D|TRIM36_uc003kqv.3_Missense_Mutation_p.G11D	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	11						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATGATGTAGCCAAATTCACT	0.557000														220			38		0	0	1	0	0
TOE1	114034	broad.mit.edu	37	1	45806997	45806997	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45806997G>T	uc009vxq.3	+	2	801	c.218G>T	c.(217-219)aGg>aTg	p.R73M	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Missense_Mutation_p.Q25H|TOE1_uc010oln.1_Missense_Mutation_p.R79M|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	73						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CTTGGGGACAGGAAGAGTTTG	0.557000														114			20		8.10497e-08	8.79904e-08	1	1	0
DCLK1	9201	broad.mit.edu	37	13	36686021	36686021	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686021C>T	uc001uvf.3	-	2	991	c.708G>A	c.(706-708)acG>acA	p.T236T		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	236	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.T236M(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCCCATCCAACGTGTACAGGC	0.483000														153			12		0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94257604	94257604	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94257604C>T	uc011kid.1	-	3	519	c.408G>A	c.(406-408)tgG>tgA	p.W136*	SGCE_uc003unm.2_Nonsense_Mutation_p.W100*|SGCE_uc003unl.2_Nonsense_Mutation_p.W100*|SGCE_uc003unn.2_Nonsense_Mutation_p.W100*|SGCE_uc011kic.1_Nonsense_Mutation_p.W59*	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	100					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATATCGAAGCCATCCAGGTC	0.393000														41			12		0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144589969	144589969	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144589969C>T	uc003yyd.2	-	3	1691	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	554					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GGGGGAAGGGCGGGGCGCTGA	0.672000														159			25		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88946237	88946237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88946237C>T	uc001xwv.4	-	12	1869	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	PTPN21_uc010twc.2_Missense_Mutation_p.S309N	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	513						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTAGCTCAGGCTGAACGGGCA	0.711000														182			46		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180057602	180057602	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180057602G>A	uc003mlz.4	-	2	432	c.353C>T	c.(352-354)gCa>gTa	p.A118V	FLT4_uc003mma.4_Missense_Mutation_p.A118V|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.A118V|FLT4_uc011dgz.1_Missense_Mutation_p.A118V|FLT4_uc011dha.1_Missense_Mutation_p.A118V	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	118	Ig-like C2-type 1.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTCGATGCGTGCCTTGATGTA	0.642000														115			44		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48030670	48030670	+	Missense_Mutation	SNP	G	A	A	rs63750253		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48030670G>A	uc002rwd.4	+	4	3436	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	MSH6_uc010fbj.3_Missense_Mutation_p.R793H|MSH6_uc010yoj.2_Missense_Mutation_p.R793H	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1095			R -> H (in CRC; uncertain pathogenicity).		DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.R1095H(4)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGGATCACGCCATCCTTGC	0.458000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					94			21		0	0	1	0	0
CMTM7	112616	broad.mit.edu	37	3	32483422	32483422	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32483422G>A	uc003cey.1	+	1	486	c.250G>A	c.(250-252)Gac>Aac	p.D84N	CMTM7_uc003cez.1_Missense_Mutation_p.D84N	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	84	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACCATTTGCGACTTGATAAT	0.547000														244			13		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75267776	75267776	+	Missense_Mutation	SNP	G	A	A	rs142603608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75267776G>A	uc002fdv.3	-	5	2214	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	BCAR1_uc002fdt.3_Missense_Mutation_p.R143W|BCAR1_uc002fdu.3_Missense_Mutation_p.R480W|BCAR1_uc010vna.2_Missense_Mutation_p.R688W|BCAR1_uc010cgu.3_Missense_Mutation_p.R708W|BCAR1_uc010vnb.2_Missense_Mutation_p.R736W|BCAR1_uc002fdw.3_Missense_Mutation_p.R690W|BCAR1_uc010vnc.2_Missense_Mutation_p.R542W|BCAR1_uc010vnd.2_Missense_Mutation_p.R708W|BCAR1_uc002fdx.3_Missense_Mutation_p.R708W	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	690					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGCCCTGCCGCGTGATGCTG	0.642000														44			7		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158516726	158516726	+	Missense_Mutation	SNP	C	T	T	rs140216302		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158516726C>T	uc003qqx.2	+	26	3927	c.3821C>T	c.(3820-3822)gCc>gTc	p.A1274V	SYNJ2_uc003qqy.2_Missense_Mutation_p.A1037V|SYNJ2_uc003qqz.2_Missense_Mutation_p.A891V|SYNJ2_uc003qra.2_Missense_Mutation_p.A617V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1274	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCGTTGAGGCCCCTCCTGTC	0.562000														166			29		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228829	47228829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228829C>T	uc002pfm.3	-	9	1379	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	STRN4_uc002pfl.3_Missense_Mutation_p.R442H|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	442						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGCCAGGGAACGAATGCCGTC	0.612000														91			19		0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19389273	19389273	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19389273G>A	uc003cbk.1	+	4	822	c.627G>A	c.(625-627)aaG>aaA	p.K209K	KCNH8_uc011awe.1_Silent_p.K209K|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	209						integral to membrane	two-component sensor activity	p.K209K(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGCAAAAAAGTCCAAATTCA	0.373000														142			38		0	0	1	0	0
VN1R5	317705	broad.mit.edu	37	1	247420298	247420298	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247420298G>A	uc010pyu.2	+	1	922	c.922G>A	c.(922-924)Gcc>Acc	p.A308T		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	309					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GGTTATTGTGGCCAATAGCTA	0.393000														197			39		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135279294	135279294	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135279294G>T	uc003vsw.3	+	13	1862	c.1831_splice	c.e13-1	p.S611_splice		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	611					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCAATTCTTAGAGTGAAAATG	0.408000														123			18		1.02788e-11	1.17486e-11	1	1	0
CHD5	26038	broad.mit.edu	37	1	6169927	6169927	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6169927C>T	uc001amb.2	-	37	5617	c.5506G>A	c.(5506-5508)Gcc>Acc	p.A1836T	CHD5_uc001alz.2_Missense_Mutation_p.A693T|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1836					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.A1836T(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGGCTCTCGGCGAGGCACTCC	0.662000														208			23		0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35805906	35805906	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35805906C>A	uc003zyd.3	+	13	2127	c.2127C>A	c.(2125-2127)agC>agA	p.S709R	NPR2_uc010mlb.3_Missense_Mutation_p.S685R	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	709	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ACGTCTATAGCTTTGGGATCA	0.547000														141			32		1.99505e-19	2.42313e-19	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32279785	32279785	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32279785C>T	uc001bts.1	-	1	1208	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	SPOCD1_uc001btu.3_Missense_Mutation_p.A384T|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	384					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CAGGTGTCAGCGGGGGCAGCG	0.667000														51			7		0	0	1	0	0
ADSL	158	broad.mit.edu	37	22	40749110	40749110	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40749110C>T	uc003ayp.4	+	2	450	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	ADSL_uc003ays.4_Missense_Mutation_p.L131F	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	131					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ACTTGACCTGCTTTTGCCAAA	0.363000														57			21		0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131022956	131022956	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131022956C>A	uc011maw.2	-	16	1478	c.1465G>T	c.(1465-1467)Gac>Tac	p.D489Y	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_5'UTR|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ594309_uc004bun.2_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	489						Golgi cisterna membrane	protein binding	p.D477N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTCATTGTCTTGCACCTGG	0.682000														203			46		2.37825e-27	2.97891e-27	1	1	0
KIAA1274	27143	broad.mit.edu	37	10	72299451	72299451	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72299451G>A	uc001jrd.4	+	14	2122	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	KIAA1274_uc001jre.4_5'UTR	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	614										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						AGCCAGCACCGCAGGGCCTGT	0.662000														154			28		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166991023	166991023	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166991023C>A	uc001gdy.1	+	11	1307	c.1236C>A	c.(1234-1236)aaC>aaA	p.N412K	MAEL_uc021peh.1_Missense_Mutation_p.N356K|MAEL_uc001gdz.1_Missense_Mutation_p.N381K|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	412					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						AATTCTCCAACTGTGACACTT	0.393000														128			16		1.56452e-12	1.80666e-12	1	1	0
TINF2	26277	broad.mit.edu	37	14	24710962	24710962	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24710962C>A	uc001woa.4	-	2	660	c.318G>T	c.(316-318)aaG>aaT	p.K106N	TINF2_uc010alm.3_5'UTR|TINF2_uc001wob.4_Missense_Mutation_p.K106N|TINF2_uc010tof.2_Missense_Mutation_p.K71N|TINF2_uc001woc.4_Missense_Mutation_p.K106N	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	106					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCTCCAAAATCTTCCTCAGAT	0.493000									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome					49			9		0.0477658	0.0480153	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228437821	228437821	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228437821C>A	uc009xez.1	+	13	4233	c.4189C>A	c.(4189-4191)Cga>Aga	p.R1397R	OBSCN_uc001hsn.3_Silent_p.R1397R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1397	Ig-like 14.			R -> C (in Ref. 1; CAC85746).|RM -> HV (in Ref. 1; CAC85749).	apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.R1397Q(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCGAAAGTTCGAATGGAGGC	0.672000														270			105		8.2166e-39	1.04392e-38	1	1	0
IL9R	3581	broad.mit.edu	37	X	155233426	155233426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:155233426G>A	uc004fnv.1	+	3	518	c.339G>A	c.(337-339)gtG>gtA	p.V113V	IL9R_uc010nvn.2_Silent_p.V92V|IL9R_uc004fnu.1_Missense_Mutation_p.C158Y	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	113					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGTGCTCGTGCCATCTGACA	0.607000														71			23		0	0	1	0	0
ZNF346	23567	broad.mit.edu	37	5	176477892	176477892	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176477892G>A	uc003mfk.1	+	5	776	c.733G>A	c.(733-735)Gca>Aca	p.A245T	ZNF346_uc003mfi.3_Missense_Mutation_p.A220T|ZNF346_uc011dfr.2_Missense_Mutation_p.A188T|ZNF346_uc011dfs.2_Missense_Mutation_p.A122T|ZNF346_uc011dft.1_Intron	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Homo sapiens zinc finger protein 346 (ZNF346), mRNA.	220						cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAAACTAATGGCACGCTATGG	0.562000														139			30		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36563558	36563558	+	Missense_Mutation	SNP	G	A	A	rs145553904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563558G>A	uc001bzv.2	-	1	1731	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	COL8A2_uc001bzw.2_Missense_Mutation_p.P510L	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	575	C1q.|Nonhelical region (NC1).		P -> L (in FECD1; uncertain pathogenicity).		angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGAAGGCCGGTGTGGCATG	0.667000														66			7		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141543813	141543813	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141543813G>T	uc010ioj.3	-	20	3609	c.3337C>A	c.(3337-3339)Ctg>Atg	p.L1113M		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1113						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTGGCCGGCAGGGGCTCAACA	0.672000														150			32		1.39806e-14	1.64448e-14	1	1	0
NBAS	51594	broad.mit.edu	37	2	15534373	15534373	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15534373A>G	uc002rcc.1	-	27	3261	c.3235T>C	c.(3235-3237)Ttg>Ctg	p.L1079L	NBAS_uc010exl.1_Silent_p.L151L|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1079										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCCTCGTCAATCTAACCATC	0.353000														35			8		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10918751	10918751	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10918751G>T	uc002ras.3	+	11	1126	c.1017G>T	c.(1015-1017)tgG>tgT	p.W339C	ATP6V1C2_uc002rat.3_Missense_Mutation_p.W293C	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	339					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.V338I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		TCATTGCCTGGATCCACATCA	0.622000														139			40		3.09479e-21	3.79487e-21	1	1	0
TTN	7273	broad.mit.edu	37	2	179401007	179401007	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179401007A>G	uc021vsy.1	-	305	92988	c.92763T>C	c.(92761-92763)tcT>tcC	p.S30921S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S24616S|TTN_uc021vta.1_Silent_p.S24549S|TTN_uc021vtb.1_Silent_p.S24424S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31848	Fibronectin type-III 125.						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)			TTGGGACATCAGATTTGGGAG	0.413000														33			8		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2290153	2290153	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2290153G>A	uc001ajb.1	-	9	767	c.746_splice	c.e9-1	p.S249_splice	MORN1_uc009vld.3_Splice_Site_p.S225_splice|MORN1_uc001ajd.1_Splice_Site_p.S249_splice	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		GGCCGCTCTCGCCTTCCAGGA	0.597000														41			8		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96795031	96795031	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96795031A>C	uc001yfi.3	-	12	2319	c.1954T>G	c.(1954-1956)Tct>Gct	p.S652A		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	652										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CTATTCTCAGAATGCTTATAA	0.333000														79			10		0	0	1	0	0
PIGS	94005	broad.mit.edu	37	17	26890850	26890850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26890850G>A	uc002hbo.2	-	3	735	c.362C>T	c.(361-363)tCg>tTg	p.S121L	PIGS_uc002hbn.2_Missense_Mutation_p.S113L|PIGS_uc010wap.1_Missense_Mutation_p.S60L	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	121					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CACACTGCCCGATGACAGGGC	0.483000														240			56		0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58864689	58864689	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864689G>A	uc002qsd.4	-	1	101	c.39C>T	c.(37-39)gtC>gtT	p.V13V	A1BG-AS1_uc002qse.3_Non-coding_Transcript|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Intron	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	13						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GGCCCCAGGTGACACCTGCGG	0.677000														42			8		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23641691	23641691	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23641691T>G	uc002dlx.1	-	4	1984	c.1784A>C	c.(1783-1785)gAt>gCt	p.D595A		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	595					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGCATTCCATCCCTATGAAA	0.393000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						69			7		0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17959282	17959282	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17959282C>T	uc002rct.2	+	11	1289	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Nonsense_Mutation_p.R406*|GEN1_uc002rcu.2_Nonsense_Mutation_p.R406*	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	406					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTTAAGACTCGAATCAGAAA	0.269000								Homologous recombination						71			14		0	0	1	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577555	67577555	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67577555G>A	uc003xwn.3	-	0	1898	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	547					protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CTGACCTTTCGCACAGATGTG	0.423000														276			61		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109794810	109794810	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109794810C>T	uc001dxa.4	+	0	2170	c.2109C>T	c.(2107-2109)acC>acT	p.T703T		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	703	Cadherin 5.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGAATGTCACCGACGCCAACA	0.577000														152			17		0	0	1	0	0
EBLN2	55096	broad.mit.edu	37	3	73111947	73111947	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73111947G>A	uc003dpj.3	+	0	1138	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	PPP4R2_uc003dph.1_Intron|PPP4R2_uc003dpi.1_Intron	NM_018029	NP_060499	Q6P2I7	EBLN2_HUMAN	Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA.	239							protein binding			endometrium(1)|large_intestine(3)|lung(1)|prostate(1)	6						TGCAGAATCAGCCATAGGTTG	0.443000														212			46		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508656	123508656	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123508656G>T	uc003vlc.3	+	2	967	c.329G>T	c.(328-330)gGa>gTa	p.G110V	HYAL4_uc011knz.2_Missense_Mutation_p.G110V	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	110					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCCATTAATGGAGGTCTCCCA	0.428000														139			27		9.80776e-20	1.19282e-19	1	1	0
ZNF609	23060	broad.mit.edu	37	15	64915077	64915077	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64915077C>T	uc002ann.3	+	1	799	c.799C>T	c.(799-801)Cca>Tca	p.P267S		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	267						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTTTTGGTGCCAGTGGTCAA	0.512000														230			11		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117568492	117568492	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117568492G>A	uc010oxb.1	+	7	2848	c.2790G>A	c.(2788-2790)gaG>gaA	p.E930E	CD101_uc009whd.3_Silent_p.E930E|CD101_uc010oxc.1_Silent_p.E930E|CD101_uc010oxd.1_Silent_p.E868E	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	930					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATCCGATGAGTCACAGCGGA	0.532000														99			12		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45433278	45433278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45433278G>A	uc001wvw.3	+	0	1863	c.1654G>A	c.(1654-1656)Gct>Act	p.A552T	FAM179B_uc001wvv.3_Missense_Mutation_p.A552T|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.A552T|FAM179B_uc001wvu.3_Missense_Mutation_p.A552T	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	552							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CCTTTTTAAAGCTGTGGATAC	0.468000														178			28		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622804	38622804	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622804G>A	uc021wvo.1	-	15	2898	c.2846C>T	c.(2845-2847)gCc>gTc	p.A949V	SCN5A_uc021wvk.1_Missense_Mutation_p.A949V|SCN5A_uc021wvl.1_Missense_Mutation_p.A949V|SCN5A_uc021wvm.1_Missense_Mutation_p.A949V|SCN5A_uc021wvn.1_Missense_Mutation_p.A949V|SCN5A_uc021wvp.1_Missense_Mutation_p.A949V|SCN5A_uc021wvq.1_Missense_Mutation_p.A949V|SCN5A_uc021wvr.1_Missense_Mutation_p.A949V|SCN5A_uc021wvs.1_Missense_Mutation_p.A949V|SCN5A_uc021wvt.1_Missense_Mutation_p.A949V|SCN5A_uc021wvu.1_Missense_Mutation_p.A949V|SCN5A_uc021wvv.1_Missense_Mutation_p.A949V|SCN5A_uc021wvj.1_Missense_Mutation_p.A815V|SCN5A_uc021wvi.1_Missense_Mutation_p.A815V|SCN5A_uc021wvw.1_Missense_Mutation_p.A560V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	949					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCATCAGGGGCTGTGAGGTT	0.582000														37			18		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16314368	16314368	+	Silent	SNP	G	A	A	rs146062531	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16314368G>A	uc002ndv.2	+	1	314	c.141G>A	c.(139-141)tcG>tcA	p.S47S	AP1M1_uc002ndu.2_Silent_p.S47S|AP1M1_uc010xpd.1_Silent_p.S47S	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	47					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						GGATGCTGTCGCCCATCCTGG	0.597000														142			21		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080543	54080543	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54080543C>T	uc002qbx.1	+	6	2163	c.729C>T	c.(727-729)taC>taT	p.Y243Y	ZNF331_uc002qby.1_Silent_p.Y243Y|ZNF331_uc002qbz.1_Silent_p.Y243Y|ZNF331_uc010eqr.1_Silent_p.Y243Y|ZNF331_uc002qca.1_Silent_p.Y243Y|ZNF331_uc021uzg.1_Silent_p.Y243Y|ZNF331_uc021uzh.1_Silent_p.Y243Y|ZNF331_uc002qcb.1_Silent_p.Y243Y|ZNF331_uc002qcc.1_Silent_p.Y243Y|ZNF331_uc002qcd.1_Silent_p.Y243Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAAGACTACGAATGCAAAG	0.463000			T	?	follicular thyroid adenoma									119			25		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109494	64109494	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64109494A>C	uc001nzy.3	+	7	753	c.704A>C	c.(703-705)gAa>gCa	p.E235A	CCDC88B_uc009ypo.2_Missense_Mutation_p.E232A|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	235					microtubule cytoskeleton organization	cytoplasm	microtubule binding	p.R234R(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGAGCGAGAACCCCTCTGC	0.642000														73			18		0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128973575	128973575	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:128973575A>C	uc001lju.1	-	0	1126	c.1085T>G	c.(1084-1086)cTt>cGt	p.L362R	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Missense_Mutation_p.L362R|FAM196A_uc001ljv.1_Missense_Mutation_p.L362R|FAM196A_uc009yap.1_Missense_Mutation_p.L362R	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	362										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CATCATCTGAAGTTGTGCTTT	0.537000														370			99		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158631185	158631185	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158631185C>T	uc001fst.1	-	17	2678	c.2479G>A	c.(2479-2481)Gct>Act	p.A827T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	827					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)					TTTTTGGAAGCAATCAGGTCC	0.428000														124			18		0	0	1	0	0
CASQ1	844	broad.mit.edu	37	1	160160767	160160767	+	Missense_Mutation	SNP	G	A	A	rs79469730	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160160767G>A	uc010pja.2	+	0	483	c.226G>A	c.(226-228)Gag>Aag	p.E76K		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	76						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAACCCCCCGAGGATGACAA	0.522000														76			30		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186678279	186678279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186678279C>T	uc002upl.3	+	17	20102	c.20102C>T	c.(20101-20103)gCt>gTt	p.A6701V	FSIP2_uc002upm.3_Non-coding_Transcript	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAGGCCGTTGCTAGAAATTCA	0.284000														24			8		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103093703	103093703	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103093703C>T	uc001phn.1	+	58	9385	c.9241C>T	c.(9241-9243)Cgt>Tgt	p.R3081C	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.R3081C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3081	Stalk (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GAATGCTAAGCGTGCCAGTAC	0.398000														77			13		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229700	8229700	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8229700G>T	uc003gkv.4	+	11	2380	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	SH3TC1_uc003gkw.4_Missense_Mutation_p.S684I|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	760							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCCCCACAGCCTCCCTGCC	0.692000														140			30		2.12542e-12	2.45163e-12	1	1	0
PDZD2	23037	broad.mit.edu	37	5	32088716	32088716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32088716C>T	uc003jhl.3	+	19	5550	c.5162C>T	c.(5161-5163)cCg>cTg	p.P1721L	PDZD2_uc003jhm.3_Missense_Mutation_p.P1721L	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1721					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TTTCACAGTCCGCCCATCATT	0.498000														144			46		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7173250	7173250	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7173250T>C	uc001qsj.3	+	9	1566	c.847T>C	c.(847-849)Tgg>Cgg	p.W283R	C1S_uc001qsk.3_Missense_Mutation_p.W283R|C1S_uc001qsl.3_Missense_Mutation_p.W283R|C1S_uc009zfr.3_Missense_Mutation_p.W116R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	283	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.W283fs*14(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	AAAAAAGGGCTGGAAACTTCG	0.428000														104			12		0	0	1	0	0
TNNC2	7125	broad.mit.edu	37	20	44452970	44452970	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44452970C>A	uc002xpr.3	-	3	341	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	92	EF-hand 3.				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTCCTCCTCGCTCTTCCCTTT	0.657000														162			40		8.16277e-20	9.93979e-20	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121414270	121414270	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121414270C>T	uc010hrc.3	-	12	5226	c.5100G>A	c.(5098-5100)gaG>gaA	p.E1700E	GOLGB1_uc003eei.4_Silent_p.E1695E|GOLGB1_uc003eej.4_Silent_p.E1661E|GOLGB1_uc021xcy.1_Silent_p.E1620E|GOLGB1_uc011bjm.1_Silent_p.E1581E|GOLGB1_uc010hrd.1_Silent_p.E1659E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1695					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCGGTCATTCTCTTCTTCCA	0.438000														227			40		0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388043	41388043	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41388043G>A	uc002opm.3	-	0	615	c.73C>T	c.(73-75)Cag>Tag	p.Q25*	CYP2A7_uc002opo.3_Intron|CYP2A7_uc002opn.3_Nonsense_Mutation_p.Q25*	NM_000764	NP_000755	P20853	CP2A7_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 7 (CYP2A7), transcript variant 1, mRNA.	25						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TTCCTCTGCTGCCAGACAGAC	0.572000														105			26		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21355541	21355541	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21355541T>C	uc001req.4	+	9	1356	c.1252T>C	c.(1252-1254)Tca>Cca	p.S418P		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	418					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGCTGTGATGTCATTGTCCTT	0.323000														36			12		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734599	92734599	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92734599T>C	uc003umf.3	-	2	1082	c.812A>G	c.(811-813)tAt>tGt	p.Y271C	SAMD9_uc003umg.3_Missense_Mutation_p.Y271C|SAMD9_uc022ahg.1_Missense_Mutation_p.Y271C	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	271						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCTTCAAAATACTTGTTTAT	0.388000														142			17		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111317744	111317744	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111317744A>C	uc001trv.1	+	5	719	c.524A>C	c.(523-525)aAt>aCt	p.N175T	CCDC63_uc009zvt.1_Intron|CCDC63_uc010sye.1_Missense_Mutation_p.N135T|CCDC63_uc001trw.1_Missense_Mutation_p.N90T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	175										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTGACCACTAATGCCAAGCTC	0.458000														255			99		0	0	1	0	0
CWC27	10283	broad.mit.edu	37	5	64081400	64081400	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64081400C>T	uc003jtn.1	+	4	708	c.489C>T	c.(487-489)agC>agT	p.S163S	CWC27_uc003jtl.3_Silent_p.S163S|CWC27_uc003jtm.3_Silent_p.S163S|CWC27_uc010iwt.1_Silent_p.S163S	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	163	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAATAAAAAGCTGTGAGGTAG	0.343000														82			29		0	0	1	0	0
TPH1	7166	broad.mit.edu	37	11	18042657	18042657	+	Missense_Mutation	SNP	G	A	A	rs151168710	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18042657G>A	uc001mnp.2	-	9	1242	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	406					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	p.R406L(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TGAATACTCCGTGTATATGGA	0.398000														191			37		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95453692	95453692	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95453692G>A	uc001tdm.4	-	3	610	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NR2C1_uc010suu.1_Silent_p.D118D|NR2C1_uc001tdn.4_Silent_p.D118D|NR2C1_uc001tdo.4_Silent_p.D118D	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	118	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTGATGCTTTGTCTCCACATA	0.313000														39			6		0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64572567	64572567	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64572567G>A	uc001obj.3	-	8	1377	c.1304C>T	c.(1303-1305)cCt>cTt	p.P435L	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.P435L|MEN1_uc001obl.3_Missense_Mutation_p.P395L|MEN1_uc001obm.3_Missense_Mutation_p.P430L|MEN1_uc001obn.3_Missense_Mutation_p.P435L|MEN1_uc001obo.3_Missense_Mutation_p.P435L|MEN1_uc001obq.3_Missense_Mutation_p.P435L|MEN1_uc001obr.3_Missense_Mutation_p.P435L	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	435					DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ATGCAGCACAGGCGTGGGACT	0.622000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					102			25		0	0	1	0	0
MITD1	129531	broad.mit.edu	37	2	99797352	99797352	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99797352A>G	uc002szs.1	-	0	141	c.93T>C	c.(91-93)taT>taC	p.Y31Y	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron|MRPL30_uc002szu.3_5'Flank|MRPL30_uc002szv.3_5'Flank	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	31	MIT.				protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						GAGCCTGCGGATACCGCGACT	0.577000														197			65		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79319009	79319009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79319009C>T	uc010mpk.3	-	8	7644	c.7520G>A	c.(7519-7521)aGc>aAc	p.S2507N	PRUNE2_uc004akj.4_5'UTR|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_5'UTR|PRUNE2_uc022bih.1_Missense_Mutation_p.S2329N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2507					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATTTCCTTGCTGGCACCTAG	0.358000														96			10		0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7629903	7629903	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:7629903A>G	uc002cys.2	+	5	1383	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RBFOX1_uc010buf.1_Missense_Mutation_p.D132G|RBFOX1_uc002cyr.1_Missense_Mutation_p.D131G|RBFOX1_uc002cyt.2_Missense_Mutation_p.D132G|RBFOX1_uc010uxz.1_Missense_Mutation_p.D175G|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.D132G|RBFOX1_uc010uyb.1_Missense_Mutation_p.D132G|RBFOX1_uc002cyw.2_Missense_Mutation_p.D152G|RBFOX1_uc002cyy.2_Missense_Mutation_p.D152G|RBFOX1_uc002cyx.2_Missense_Mutation_p.D152G|RBFOX1_uc010uyc.1_Missense_Mutation_p.D152G	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	132	RRM.				RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CGGGATCCGGACCTCAGACAA	0.527000														106			19		0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134109963	134109963	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134109963C>A	uc001qhe.3	+	2	915	c.459C>A	c.(457-459)agC>agA	p.S153R		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	153					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACACACTCAGCACATACCCAG	0.453000														138			21		2.4624e-09	2.73094e-09	1	1	0
CRADD	8738	broad.mit.edu	37	12	94072626	94072626	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072626G>A	uc001tda.3	+	1	180	c.76G>A	c.(76-78)Gtt>Att	p.V26I	CRADD_uc010sur.1_Missense_Mutation_p.V26I|CRADD_uc010sus.1_Non-coding_Transcript	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	26	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GGAGGGACTGGTTCTTCAGTA	0.498000														100			29		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067278	62067278	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067278A>T	uc002sbm.4	-	2	963	c.861T>A	c.(859-861)gtT>gtA	p.V287V	FAM161A_uc002sbn.4_Silent_p.V97V|FAM161A_uc010ypo.2_Silent_p.V287V|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Silent_p.V178V	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	287					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGATGCAGGAACTGGATTGG	0.403000														191			41		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373565	62373565	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373565C>T	uc010rly.1	-	12	1934	c.1626G>A	c.(1624-1626)ggG>ggA	p.G542G	EML3_uc001ntr.1_Silent_p.G514G|EML3_uc001nts.1_Silent_p.G514G|EML3_uc001ntt.1_Silent_p.G426G|EML3_uc001ntu.1_Silent_p.G542G|EML3_uc009yny.1_Silent_p.G325G			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	542						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCAACCCGGGCCCCCACTGTA	0.637000														439			71		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960761	240960761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240960761C>T	uc010fzc.2	-	2	414	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NDUFA10_uc002vyn.3_Missense_Mutation_p.A105T|NDUFA10_uc002vyo.2_Missense_Mutation_p.A105T|NDUFA10_uc002vyp.3_Missense_Mutation_p.A105T	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	105					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	p.L104L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	TAGTCGGTGGCGAGGGGCTTC	0.488000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			25		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414796	105414796	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105414796G>T	uc010axc.1	-	6	7112	c.6992C>A	c.(6991-6993)tCt>tAt	p.S2331Y	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.S2231Y	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2331						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAAGGGCAGACACCCCAAA	0.602000														610			80		1.62292e-39	2.06276e-39	1	1	0
PRX	57716	broad.mit.edu	37	19	40904649	40904649	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40904649C>T	uc002onr.3	-	5	528	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	PRX_uc002onq.3_5'UTR|PRX_uc002ons.3_Missense_Mutation_p.A87T	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	87	PDZ.				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAAGGCTCGGCGCATTGCAGC	0.647000														126			33		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20850180	20850180	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20850180C>T	uc001vxe.3	-	29	4356	c.4316G>A	c.(4315-4317)cGg>cAg	p.R1439Q	TEP1_uc010ahk.3_Missense_Mutation_p.R782Q|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R1331Q|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1439	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CGGTAGTGTCCGCCACACACT	0.597000														122			25		0	0	1	0	0
FGD6	55785	broad.mit.edu	37	12	95602826	95602826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95602826G>A	uc001tdp.4	-	1	2458	c.2234C>T	c.(2233-2235)gCa>gTa	p.A745V	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	745					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						ATACTCCGGTGCACAGAGGCT	0.453000														138			15		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31597095	31597095	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597095G>A	uc001wrc.1	-	25	5366	c.4877C>T	c.(4876-4878)aCa>aTa	p.T1626I	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.T1094I	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1626	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGATAAAACTGTTGTTGCTGT	0.423000														118			25		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716401	153716401	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716401C>A	uc022cig.1	-	0	879	c.879G>T	c.(877-879)gtG>gtT	p.V293V	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.V264V|SLC10A3_uc004flq.3_Silent_p.V293V|SLC10A3_uc004flp.3_Silent_p.V293V	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	293					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CAGTGGCAGCCACCGTAGAGA	0.627000														161			57		3.28156e-27	4.10917e-27	1	1	0
MRPL38	64978	broad.mit.edu	37	17	73895245	73895245	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73895245G>A	uc010wso.1	-	7	1225	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	FBF1_uc002jqa.1_Non-coding_Transcript|TRIM65_uc002jpx.3_5'Flank|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	334						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTACCCAGAAGCTGGTGGAAG	0.592000														27			7		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129914033	129914033	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129914033G>A	uc001lke.3	-	6	834	c.639C>T	c.(637-639)agC>agT	p.S213S	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	213					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCCATAACGGCTCACTAATT	0.388000														86			20		0	0	1	0	0
MBLAC2	153364	broad.mit.edu	37	5	89769706	89769706	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89769706G>T	uc003kjp.3	-	0	880	c.404C>A	c.(403-405)gCc>gAc	p.A135D	POLR3G_uc003kjq.3_5'Flank|POLR3G_uc011cuc.2_5'Flank	NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 2 (MBLAC2), mRNA.	135							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						GAACTGTCTGGCCCTCCAGCC	0.682000														34			3		1	1	1	1	0
C3AR1	719	broad.mit.edu	37	12	8211461	8211461	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8211461C>A	uc001qtv.1	-	1	1413	c.1321G>T	c.(1321-1323)Gat>Tat	p.D441Y	C3AR1_uc021quj.1_Missense_Mutation_p.D441Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	441					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTCCTAAAATCTTTCCCCAAG	0.478000														147			23		3.62473e-10	4.06567e-10	1	1	0
KIAA0556	23247	broad.mit.edu	37	16	27751850	27751850	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27751850C>A	uc002dow.3	+	14	2256	c.2232C>A	c.(2230-2232)atC>atA	p.I744I		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	744										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GCAGAAAAATCTGTGAGCCAC	0.572000														206			53		2.27781e-18	2.75134e-18	1	1	0
DICER1	23405	broad.mit.edu	37	14	95582075	95582075	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95582075T>C	uc001ydw.2	-	11	2048	c.1836A>G	c.(1834-1836)ccA>ccG	p.P612P	DICER1_uc021sbc.1_Silent_p.P612P|DICER1_uc001ydv.2_Silent_p.P602P|DICER1_uc001ydx.2_Silent_p.P612P	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	612					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACATATGGTGGGAAAACGT	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					116			26		0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225109	206225109	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206225109C>T	uc001hds.2	+	0	827	c.669C>T	c.(667-669)tgC>tgT	p.C223C		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	223					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCTCATCTGCCATGAGATCT	0.607000														193			43		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39030003	39030003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39030003G>A	uc002rrf.3	-	22	3970	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	DHX57_uc002rrd.4_Nonsense_Mutation_p.R630*|DHX57_uc002rre.3_Nonsense_Mutation_p.R724*	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1291							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGAATACTCGACTAGTTTTT	0.473000														227			42		0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50459558	50459558	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50459558C>A	uc003tow.4	+	6	1002	c.847C>A	c.(847-849)Ctt>Att	p.L283I	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Missense_Mutation_p.L58I|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Intron|IKZF1_uc022acu.1_Missense_Mutation_p.L196I|IKZF1_uc003tox.4_Missense_Mutation_p.L241I|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Missense_Mutation_p.L154I|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Missense_Mutation_p.L100I|IKZF1_uc011kck.2_Missense_Mutation_p.L196I|IKZF1_uc003toy.4_Missense_Mutation_p.L241I|IKZF1_uc003toz.4_Missense_Mutation_p.L253I|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	283					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TCAGAAATTTCTTGGTAAGAG	0.408000			"""D,T"""	BCL6	"""ALL, DLBCL"""									24			8		0.000157383	0.000162836	1	1	0
B4GALNT4	338707	broad.mit.edu	37	11	375875	375875	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:375875G>T	uc001lpb.3	+	10	1023	c.1014G>T	c.(1012-1014)gaG>gaT	p.E338D		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	338						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGAGCCTGGAGAACGTGCTGG	0.682000														53			13		9.05144e-12	1.03561e-11	1	1	0
USP4	7375	broad.mit.edu	37	3	49338072	49338072	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49338072A>G	uc003cwq.2	-	10	1419	c.1340T>C	c.(1339-1341)aTt>aCt	p.I447T	USP4_uc003cwp.2_Missense_Mutation_p.I177T|USP4_uc003cwr.2_Missense_Mutation_p.I400T	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	447					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AGTATCCACAATCACAGAATC	0.468000														101			25		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686696	68686696	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686696C>T	uc001jmz.1	+	1	572	c.22C>T	c.(22-24)Cta>Tta	p.L8L	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Silent_p.L8L	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	8						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGTAATTAGGCTACTGAGCGG	0.403000														44			13		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160225117	160225117	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160225117C>T	uc003qsy.1	+	4	408	c.369C>T	c.(367-369)aaC>aaT	p.N123N	PNLDC1_uc003qsx.1_Silent_p.N112N	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	112						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAACTATAACAAGGTATGGC	0.458000														253			12		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48382140	48382140	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48382140G>A	uc002efi.1	+	13	2365	c.2276G>A	c.(2275-2277)cGg>cAg	p.R759Q	MIR548AE2_uc021thr.1_Intron|LONP2_uc002efj.1_Missense_Mutation_p.R715Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	759					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity	p.R759W(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTAGTGGGCGGCTGGTACGT	0.423000														207			44		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101075801	101075801	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101075801T>C	uc003pqk.3	-	27	4767	c.4438A>G	c.(4438-4440)Aca>Gca	p.T1480A		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1480	Helicase ATP-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GGCTTTTCTGTGTGTGATGAG	0.373000														62			15		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99872819	99872819	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99872819A>G	uc001pga.3	+	8	1435	c.931A>G	c.(931-933)Aca>Gca	p.T311A	CNTN5_uc009ywv.2_Missense_Mutation_p.T311A|CNTN5_uc001pfz.3_Missense_Mutation_p.T311A|CNTN5_uc021qpb.1_Missense_Mutation_p.T311A|CNTN5_uc021qpc.1_Missense_Mutation_p.T237A	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	311	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TTTCACGGTTACAGCTGCTAA	0.338000														23			4		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71008431	71008431	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71008431G>A	uc003dol.3	-	16	2324	c.2001C>T	c.(1999-2001)taC>taT	p.Y667Y	FOXP1_uc003dom.3_Silent_p.Y591Y|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.Y667Y|FOXP1_uc003doo.3_Silent_p.Y666Y|FOXP1_uc003dop.3_Silent_p.Y667Y|FOXP1_uc021xao.1_Silent_p.Y683Y|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.3_Silent_p.Y567Y|FOXP1_uc003dok.3_Silent_p.Y593Y|FOXP1_uc003doj.3_Silent_p.Y669Y	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	667					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTCATCTTCGTAATCTCTGT	0.478000			T	PAX5	ALL									167			37		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71148891	71148891	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71148891G>T	uc001oqk.3	-	7	1180	c.930C>A	c.(928-930)gaC>gaA	p.D310E	DHCR7_uc001oql.3_Missense_Mutation_p.D310E	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	310					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.G309G(1)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCCAGACACAGTCGCCCCAGC	0.557000									Smith-Lemli-Opitz syndrome					136			11		0.010729	0.0108564	1	1	0
DDX18	8886	broad.mit.edu	37	2	118582670	118582670	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118582670C>T	uc002tlh.1	+	8	1460	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	454	Helicase C-terminal.						ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CCCGTCTTGGCCATTCATGTA	0.388000														132			17		0	0	1	0	0
HSD17B3	3293	broad.mit.edu	37	9	98997811	98997811	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98997811G>A	uc004awa.1	-	10	912	c.864C>T	c.(862-864)agC>agT	p.S288S	HSD17B3_uc010msc.1_Silent_p.S238S	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	288					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	GGAAGGCACCGCTGTAGAAGG	0.537000														56			8		0	0	1	0	0
ZNF213	7760	broad.mit.edu	37	16	3191230	3191230	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3191230G>A	uc010uws.2	+	5	1709	c.1262G>A	c.(1261-1263)cGt>cAt	p.R421H	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.R421H|ZNF213_uc010uwt.2_3'UTR|CASP14L_uc002cuf.1_5'Flank	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCATCGGCGTGTGCACACC	0.657000														165			41		0	0	1	0	0
C4orf46	201725	broad.mit.edu	37	4	159592872	159592872	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159592872C>A	uc003iqa.2	-	0	331	c.82G>T	c.(82-84)Gca>Tca	p.A28S	C4orf46_uc010iqp.1_Intron|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.	28										kidney(1)|lung(3)|skin(1)	5						GGGGAAGATGCTGCAGAGGCG	0.672000														33			9		0.00621372	0.00630477	1	1	0
C7orf25	79020	broad.mit.edu	37	7	42949409	42949409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949409G>A	uc003thx.4	-	1	1750	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	C7orf25_uc010kxq.3_Missense_Mutation_p.T364M|C7orf25_uc010kxr.3_Missense_Mutation_p.T422M|C7orf25_uc022ace.1_Missense_Mutation_p.T364M	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	364										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						GGTGTCTCCCGTCCCAAAAAT	0.433000														100			14		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149473515	149473515	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149473515G>T	uc010lpk.3	+	1	131	c.131G>T	c.(130-132)aGc>aTc	p.S44I	SSPO_uc010lpl.1_5'UTR	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	44	EMI.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGTGCCAGCCTCGACCAT	0.667000														24			6		3.59834e-05	3.75534e-05	1	1	0
POMGNT1	55624	broad.mit.edu	37	1	46656157	46656157	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46656157T>C	uc001cpg.3	-	18	2288	c.1637A>G	c.(1636-1638)cAc>cGc	p.H546R	POMGNT1_uc010olx.2_Missense_Mutation_p.H524R|POMGNT1_uc010oly.2_Non-coding_Transcript|POMGNT1_uc010olz.2_Missense_Mutation_p.H403R|POMGNT1_uc001cpe.3_Missense_Mutation_p.H546R|POMGNT1_uc001cpf.3_Missense_Mutation_p.H213R|POMGNT1_uc001cph.1_3'UTR|POMGNT1_uc001cpi.1_3'UTR	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	546					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GAGCAGCCTGTGAACTTCCAC	0.527000														427			48		0	0	1	0	0
C9orf69	90120	broad.mit.edu	37	9	139008678	139008678	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139008678C>T	uc004cgx.4	-	1	594	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	C9orf69_uc004cgy.2_Non-coding_Transcript	NM_152833	NP_690046			Homo sapiens chromosome 9 open reading frame 69 (C9orf69), mRNA.											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GCCCGCAGGCCGCATGCAGGC	0.701000														70			12		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20770011	20770011	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20770011C>A	uc001vwt.3	-	1	222	c.165G>T	c.(163-165)caG>caT	p.Q55H	TTC5_uc001vwu.3_5'UTR	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	55					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CTTCCATCTGCTGTAGGGTTT	0.473000														116			9		1.58986e-06	1.69271e-06	1	1	0
GAS2	2620	broad.mit.edu	37	11	22747968	22747968	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22747968C>T	uc009yie.3	+	3	704	c.398C>T	c.(397-399)tCg>tTg	p.S133L	GAS2_uc001mqm.3_Missense_Mutation_p.S133L|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.S133L	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	133	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CTATTTGAATCGGAAGGTTTG	0.383000														105			22		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48746712	48746712	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48746712G>T	uc002isl.3	+	17	2145	c.2065_splice	c.e17-1	p.G689_splice		NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	689	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCTGTGGCCAGGGCTCCGTGG	0.607000														130			24		3.5997e-14	4.22413e-14	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68688070	68688070	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68688070T>C	uc003hdq.3	-	9	1307	c.1242A>G	c.(1240-1242)caA>caG	p.Q414Q	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc003hdp.3_Silent_p.Q195Q|TMPRSS11D_uc011caj.2_Silent_p.Q297Q	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	414	Peptidase S1.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCCCAGTTTGTTGCCTAATCC	0.463000														211			49		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53574165	53574165	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53574165G>T	uc003xre.4	-	8	1846	c.1288C>A	c.(1288-1290)Ctg>Atg	p.L430M	RB1CC1_uc003xrf.4_Missense_Mutation_p.L430M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	430					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATATCTAACAGTTTTCTATGA	0.343000														83			15		2.61681e-11	2.97614e-11	1	1	0
ACADSB	36	broad.mit.edu	37	10	124800885	124800885	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800885A>G	uc001lhb.3	+	4	788	c.671A>G	c.(670-672)gAc>gGc	p.D224G	ACADSB_uc010qub.2_Missense_Mutation_p.D122G	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	224					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCAAATGTAGACCCTACCATT	0.398000														188			15		0	0	1	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														21			9		0	0	1	0	0
VTI1A	143187	broad.mit.edu	37	10	114575062	114575062	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114575062C>T	uc001kzz.3	+	7	950	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_145206	NP_660207	Q96AJ9	VTI1A_HUMAN	Homo sapiens vesicle transport through interaction with t-SNAREs homolog 1A (yeast) (VTI1A), mRNA.	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	SNAP receptor activity|protein transporter activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		CATCCAGAACCGCATCCTGCT	0.493000			T	TCF7L2	colorectal									111			30		0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350364	23350364	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350364C>T	uc010gdb.3	+	5	1945	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GZF1_uc002wsy.3_Missense_Mutation_p.R591W|GZF1_uc010zsq.2_Missense_Mutation_p.R115W|GZF1_uc010zsr.2_Missense_Mutation_p.R100W|GZF1_uc002wsz.3_Missense_Mutation_p.R591W	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	591					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GTCCACTCTTCGGCGGCACAC	0.562000														153			38		0	0	1	0	0
D4S234E	27065	broad.mit.edu	37	4	4419023	4419023	+	Missense_Mutation	SNP	G	A	A	rs139279868		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4419023G>A	uc011bvz.2	+	7	1700	c.419G>A	c.(418-420)cGg>cAg	p.R140Q	D4S234E_uc011bwa.1_Missense_Mutation_p.R101Q|D4S234E_uc003ghz.3_Missense_Mutation_p.R140Q|D4S234E_uc003gia.3_Missense_Mutation_p.R140Q	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	140					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	p.A139A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TCCAGTGCCCGGGAGAAATTT	0.547000														168			37		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58739540	58739540	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58739540G>A	uc003dkt.1	-	14	1944	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.P453L	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	504										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGCTCAGCCGGCTGTTGACT	0.378000														80			21		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34803134	34803134	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34803134C>T	uc003oju.4	+	6	967	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	245										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GCTCTGGGTGCTGACTGACTC	0.502000														121			32		0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17131402	17131402	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17131402C>T	uc002gra.4	-	3	554	c.50G>A	c.(49-51)cGc>cAc	p.R17H	PLD6_uc010cpn.3_Non-coding_Transcript|FLCN_uc002grb.4_Missense_Mutation_p.R17H|FLCN_uc002grc.2_Missense_Mutation_p.R17H	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	17					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GAAGAGAGTGCGGGGGCCGTG	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					100			26		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38308468	38308468	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308468G>T	uc003aui.3	+	2	581	c.306G>T	c.(304-306)caG>caT	p.Q102H		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	102	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ATGTGTCCCAGTATTACAACC	0.602000														149			20		8.34094e-07	8.90579e-07	1	1	0
MFSD12	126321	broad.mit.edu	37	19	3547282	3547282	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547282G>A	uc002lxw.3	-	5	1181	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	MFSD12_uc002lxx.3_Silent_p.C337C|MFSD12_uc002lxy.3_Silent_p.C328C|MFSD12_uc002lxz.3_Silent_p.C337C	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	337					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						TCCTCCCAATGCACTTGTTGA	0.637000														155			21		0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24044904	24044904	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24044904C>T	uc001wkq.2	-	3	2059	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	JPH4_uc010tnr.1_5'Flank|JPH4_uc001wkr.2_Missense_Mutation_p.A381T|JPH4_uc001wks.2_Missense_Mutation_p.A381T	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	381					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CTGGCAGCGGCGATCTCCTGG	0.687000														28			5		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391890	139391890	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139391890C>T	uc004chz.3	-	33	6301	c.6301G>A	c.(6301-6303)Gca>Aca	p.A2101T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2101					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCTCCTGTGCGATGTCGCGC	0.682000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				158			35		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553024	113553024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113553024G>A	uc001tun.2	-	11	1350	c.1049C>T	c.(1048-1050)tCg>tTg	p.S350L	RASAL1_uc010syp.2_Missense_Mutation_p.S350L|RASAL1_uc001tul.3_Missense_Mutation_p.S350L|RASAL1_uc001tum.2_Missense_Mutation_p.S350L|RASAL1_uc010syq.2_Missense_Mutation_p.S350L|RASAL1_uc001tuo.4_Missense_Mutation_p.S350L|RASAL1_uc010syr.2_Missense_Mutation_p.S350L	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	350	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTGTTCCATCGACTTGGATGC	0.572000														349			72		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306705	54306705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54306705G>A	uc021smr.1	+	0	1605	c.1605G>A	c.(1603-1605)tgG>tgA	p.W535*	UNC13C_uc021sms.1_Nonsense_Mutation_p.W535*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	535					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CACCTCTCTGGCACTCACAGA	0.363000														62			16		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25784913	25784913	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25784913G>A	uc001bkk.3	+	5	886	c.684G>A	c.(682-684)tcG>tcA	p.S228S	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	228						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGATTCTTCGATCCTTATAC	0.403000														149			29		0	0	1	0	0
DIRC1	116093	broad.mit.edu	37	2	189599453	189599453	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189599453G>A	uc021vtu.1	-	0	195	c.195C>T	c.(193-195)tgC>tgT	p.C65C	DIRC1_uc002uqi.1_Silent_p.C65C	NM_052952	NP_443184	Q969H9	DIRC1_HUMAN	Homo sapiens disrupted in renal carcinoma 1 (DIRC1), mRNA.	65										large_intestine(1)|lung(6)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102)			GTTTATAAAAGCATGTGTCTG	0.408000														181			54		0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105572504	105572504	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:105572504C>T	uc003dwc.3	-	2	495	c.173G>A	c.(172-174)aGa>aAa	p.R58K	CBLB_uc011bhi.2_Missense_Mutation_p.R80K|CBLB_uc003dwd.2_Missense_Mutation_p.R58K|CBLB_uc003dwe.2_Missense_Mutation_p.R58K|CBLB_uc011bhj.1_Non-coding_Transcript	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	58	4H.|Cbl-PTB.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TTGGCACAGTCTTACCTAAAA	0.274000			Mis S		AML									45			5		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201752962	201752962	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201752962G>T	uc021phi.1	+	6	3133	c.2786G>T	c.(2785-2787)aGa>aTa	p.R929I	NAV1_uc001gwu.3_Missense_Mutation_p.R929I|NAV1_uc001gwv.1_Missense_Mutation_p.R437I|NAV1_uc001gww.2_Missense_Mutation_p.R538I|NAV1_uc001gwx.3_Missense_Mutation_p.R538I|NAV1_uc001gwy.1_Missense_Mutation_p.R310I	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	929					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGAAGCCCCAGAGCTGGGCAA	0.557000														123			24		8.24728e-16	9.79314e-16	1	1	0
RCC2	55920	broad.mit.edu	37	1	17749218	17749218	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17749218T>G	uc001bal.3	-	3	687	c.638A>C	c.(637-639)cAc>cCc	p.H213P	RCC2_uc001bam.3_Missense_Mutation_p.H213P	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	213					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		GGCCAAGGTGTGGTTCCGCCC	0.602000														99			24		0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53260055	53260055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:53260055G>A	uc002xwy.3	+	6	1014	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Homo sapiens docking protein 5 (DOK5), mRNA.	265							insulin receptor binding	p.R265H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCCCTGCCTCGCAGCGCCTAC	0.627000														105			26		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153592400	153592400	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592400C>T	uc004fkk.2	-	14	2519	c.2270G>A	c.(2269-2271)aGc>aAc	p.S757N	FLNA_uc010nuu.1_Missense_Mutation_p.S757N	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	757					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)					CCTGAAGGGGCTGTTGGGGAT	0.572000														336			16		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299095	125299095	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299095G>A	uc004euk.2	-	0	986	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	271										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGTTCTTGCCGCTGAAGGCCA	0.637000														142			40		0	0	1	0	0
DNTT	1791	broad.mit.edu	37	10	98064324	98064324	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98064324G>A	uc001kmf.3	+	0	240	c.70G>A	c.(70-72)Gcc>Acc	p.A24T	DNTT_uc001kmg.3_Missense_Mutation_p.A24T	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	24					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		TGCCTTGATGGCCTCCTCTCC	0.577000														115			31		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115099861	115099861	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115099861C>T	uc001ppi.4	-	4	822	c.693G>A	c.(691-693)ctG>ctA	p.L231L	CADM1_uc001ppf.4_Silent_p.L231L|CADM1_uc001ppk.4_Silent_p.L231L|CADM1_uc001ppj.4_Silent_p.L231L|CADM1_uc001ppl.3_Silent_p.L231L	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	231	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTGGGTCTGCAGGTTTCCAG	0.512000														71			16		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255532	48255532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255532C>T	uc002lev.3	+	5	2072	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	MAPK4_uc010xdm.2_Missense_Mutation_p.P147S|MAPK4_uc010doz.3_Silent_p.T232T	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	358					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGCAGGTACCCTGTGAGCCT	0.652000														171			32		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212251629	212251629	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212251629C>A	uc002veg.1	-	26	3528	c.3430G>T	c.(3430-3432)Gag>Tag	p.E1144*	ERBB4_uc002veh.1_Nonsense_Mutation_p.E1128*|ERBB4_uc010zji.1_Nonsense_Mutation_p.E1134*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.E1118*	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1144					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TCATCCAGCTCTCCTCGTGGG	0.527000										TSP Lung(8;0.080)				188			16		3.41278e-10	3.83229e-10	1	1	0
ZBTB39	9880	broad.mit.edu	37	12	57397725	57397725	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57397725C>A	uc001sml.2	-	1	1130	c.977G>T	c.(976-978)aGt>aTt	p.S326I	ZBTB39_uc021qzg.1_Missense_Mutation_p.S326I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CTCATCCTCACTGTCATCACT	0.507000														358			41		1.04594e-18	1.26598e-18	1	1	0
ADAM30	11085	broad.mit.edu	37	1	120438762	120438762	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120438762C>T	uc001eij.3	-	0	386	c.198G>A	c.(196-198)ctG>ctA	p.L66L		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	66					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CTTTTAACTGCAGTAGGTAGG	0.542000														113			38		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114163362	114163362	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114163362T>C	uc003ibe.4	+	8	988	c.888T>C	c.(886-888)acT>acC	p.T296T	ANK2_uc003ibd.4_Silent_p.T275T|ANK2_uc003ibf.4_Silent_p.T296T|ANK2_uc003ibc.2_Silent_p.T272T|ANK2_uc011cgb.1_Silent_p.T311T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	296					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGCCAAAACTAGGGTGAGTG	0.418000														78			20		0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041356	234041356	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234041356G>T	uc001hvy.1	+	1	280	c.135G>T	c.(133-135)gtG>gtT	p.V45V		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AGTACTTGGTGGTGGACGAGG	0.657000														157			40		6.19805e-25	7.7128e-25	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211449613	211449613	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211449613G>A	uc010psw.2	+	4	564	c.369G>A	c.(367-369)ttG>ttA	p.L123L	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Silent_p.L123L|RCOR3_uc001hif.3_Silent_p.L123L|RCOR3_uc001hig.3_Silent_p.L65L	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	65	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGGCATGTTGTTCTGGCATA	0.373000														237			83		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216243446	216243446	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216243446T>C	uc001hku.1	-	29	6433	c.6046A>G	c.(6046-6048)Aca>Gca	p.T2016A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2016	Fibronectin type-III 6.				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)		CATTTACCTGTGAGGTTGCTT	0.378000										HNSCC(13;0.011)				89			16		0	0	1	0	0
IL18RAP	8807	broad.mit.edu	37	2	103068334	103068334	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103068334T>C	uc002tbx.3	+	11	1977	c.1493T>C	c.(1492-1494)gTg>gCg	p.V498A	IL18RAP_uc010fiz.3_Missense_Mutation_p.V356A	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	498	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGCAGCAGTGAATCTTGCC	0.393000														150			32		0	0	1	0	0
PPWD1	23398	broad.mit.edu	37	5	64863418	64863418	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64863418T>G	uc003jtv.4	+	1	282	c.275T>G	c.(274-276)gTt>gGt	p.V92G	PPWD1_uc011cqv.2_Missense_Mutation_p.V62G|PPWD1_uc011cqw.2_Intron	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	92					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		CATAGAGATGTTATCACCCAT	0.328000														49			12		0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657481	72657481	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72657481G>A	uc003txs.1	-	12	2431	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	FKBP6_uc003twz.2_Intron					Homo sapiens GTF2I repeat domain containing 2 pseudogene 1 (GTF2IRD2P1), non-coding RNA.																		ggtacttgtagaattctggta	0.502000														162			38		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24909750	24909750	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24909750G>A	uc001isb.2	-	8	1561	c.1074C>T	c.(1072-1074)atC>atT	p.I358I	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Silent_p.I358I|ARHGAP21_uc010qdc.1_Silent_p.I193I|ARHGAP21_uc001isc.1_Silent_p.I348I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	357					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGCTGCTTGAGATTCCATCAG	0.428000														94			26		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47398552	47398552	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47398552G>T	uc002leb.2	-	26	3876	c.3588C>A	c.(3586-3588)gcC>gcA	p.A1196A	MYO5B_uc002lea.2_Silent_p.A337A|Y_RNA_uc021uka.1_5'Flank	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1196					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GACTATTGTAGGCCAGATCTG	0.507000														634			23		4.26978e-12	4.90093e-12	1	1	0
CCDC114	93233	broad.mit.edu	37	19	48800327	48800327	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48800327C>T	uc002pir.2	-	13	2602	c.1919G>A	c.(1918-1920)gGa>gAa	p.G640E	CCDC114_uc002piq.2_Missense_Mutation_p.G449E|CCDC114_uc002pio.3_3'UTR	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	640	Ser-rich.									cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CCCGAGGCCTCCGCTCGAATC	0.662000														169			28		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39095428	39095428	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39095428G>A	uc002rrf.3	-	1	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	DHX57_uc002rre.3_5'Flank|DHX57_uc002rrg.3_Silent_p.G40G	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	40	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				caccaccaccgccaccgccac	0.542000														228			36		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48760266	48760266	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48760266C>T	uc001zwx.2	-	37	5011	c.4616G>A	c.(4615-4617)cGa>cAa	p.R1539Q	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1539	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R1539Q(2)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCCTCGAGGTCGAATATCCAA	0.438000														106			15		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56345083	56345083	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56345083A>C	uc003haz.1	-	6	1081	c.155T>G	c.(154-156)gTt>gGt	p.V52G	CLOCK_uc003hba.1_Missense_Mutation_p.V52G	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	52	Helix-loop-helix motif.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			tttaatgagaacattAAATTG	0.299000														24			7		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121187812	121187812	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187812G>A	uc003kss.3	+	0	163	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	52					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGGCCGCAGCCGCCTCCTC	0.766000														61			15		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76799818	76799818	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76799818G>A	uc002jvz.1	-	15	2784	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	USP36_uc002jwa.1_Missense_Mutation_p.P820L|USP36_uc002jwb.1_Missense_Mutation_p.P432L|USP36_uc002jwc.1_Missense_Mutation_p.P520L|USP36_uc002jvy.1_5'Flank	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	820					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCCTCTGCGGCTCTCCCAC	0.622000														125			13		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138195085	138195085	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138195085T>C	uc003esk.3	+	20	2715	c.2489T>C	c.(2488-2490)aTg>aCg	p.M830T		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	830	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TTTGTTCCCATGGAAGAAGTA	0.358000														69			22		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50796920	50796920	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50796920C>T	uc010enu.1	+	38	5492	c.5445C>T	c.(5443-5445)gaC>gaT	p.D1815D	MYH14_uc002prq.1_Silent_p.D1782D|MYH14_uc002prr.1_Silent_p.D1774D|MYH14_uc010ycb.2_Silent_p.D125D|MYH14_uc002prs.1_Silent_p.D125D	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1774					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGCTCAATGACCGCTACCGCA	0.612000														73			27		0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119070262	119070262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119070262C>T	uc004esh.3	-	3	838	c.671G>A	c.(670-672)aGt>aAt	p.S224N	NKAP_uc004esg.3_Missense_Mutation_p.S111N	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	224	Lys-rich.|Necessary for interaction with CIR1.				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			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTCTTACCACTGGAGTCTGT	0.348000														113			6		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27789047	27789047	+	Silent	SNP	C	T	T	rs113619157	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27789047C>T	uc002dow.3	+	25	4692	c.4668C>T	c.(4666-4668)acC>acT	p.T1556T	KIAA0556_uc010vco.2_Silent_p.T58T	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1556										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TCCTCTTCACCGAGGACAGGG	0.637000														164			46		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1081636	1081636	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1081636G>A	uc002lqz.1	+	17	2509	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HMHA1_uc010xgd.1_Missense_Mutation_p.G776S|HMHA1_uc010xge.1_Missense_Mutation_p.G628S|HMHA1_uc002lra.1_Missense_Mutation_p.G600S|HMHA1_uc002lrb.1_Missense_Mutation_p.G643S|HMHA1_uc002lrc.1_Missense_Mutation_p.G395S	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	760					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCTGTTCGGCCAGGACTT	0.677000														23			5		0	0	1	0	0
RPL24	6152	broad.mit.edu	37	3	101405564	101405564	+	Splice_Site	SNP	G	T	T	rs111729740	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101405564G>T	uc003dvh.1	-	1	1	c.-42_splice	c.e1-1			NM_000986	NP_000977	P83731	RL24_HUMAN	Homo sapiens ribosomal protein L24 (RPL24), mRNA.						endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						AAAAGAAAGAGAGAATCATGG	0.537000														65			5		1.024e-07	1.11136e-07	1	1	0
EPB41L4B	54566	broad.mit.edu	37	9	112017853	112017853	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112017853C>T	uc004bdz.1	-	10	1402	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_uc004bea.3_Silent_p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.T369M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522000														139			34		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17838675	17838675	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17838675G>T	uc003stv.3	-	22	2614	c.2401C>A	c.(2401-2403)Ctt>Att	p.L801I	SNX13_uc010kuc.3_Missense_Mutation_p.L598I|SNX13_uc003stw.1_Missense_Mutation_p.L812I|SNX13_uc010kub.3_Missense_Mutation_p.L207I	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	812					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					AGCTGTTGAAGTAGGTTTTTG	0.363000														80			15		6.31663e-08	6.86475e-08	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47690332	47690332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47690332G>A	uc002zir.1	-	8	2647	c.2611C>T	c.(2611-2613)Cac>Tac	p.H871Y		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	871					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAGTAACAGTGTAAAAGACAA	0.408000														121			14		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99472828	99472828	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99472828G>A	uc002bul.3	+	13	2874	c.2824G>A	c.(2824-2826)Gtc>Atc	p.V942I	IGF1R_uc010bon.3_Missense_Mutation_p.V941I|IGF1R_uc010boo.1_Non-coding_Transcript	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	942					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	p.P941P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGCTCTGCCCGTCGCTGTCCT	0.443000														165			15		0	0	1	0	0
TPP1	1200	broad.mit.edu	37	11	6637890	6637890	+	Splice_Site	SNP	A	G	G	rs112046417		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6637890A>G	uc001mel.1	-	7	947	c.886_splice	c.e7+1	p.G296_splice	TPP1_uc001mek.1_Splice_Site_p.G53_splice	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	296					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TCTTGGTAGTACCAGGGCTAC	0.582000														144			28		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141526556	141526556	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141526556T>C	uc011bnd.2	+	2	1204	c.1120T>C	c.(1120-1122)Tgg>Cgg	p.W374R		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	374	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						TCCTGTGGACTGGTTTGCCAT	0.418000														133			26		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16258456	16258456	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16258456C>A	uc001axk.1	+	10	5925	c.5721C>A	c.(5719-5721)gtC>gtA	p.V1907V	SPEN_uc010obp.1_Silent_p.V1866V	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1907					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAAGGAGCGTCTATGCAACCA	0.512000														159			14		0.00185496	0.00189487	1	1	0
MRC2	9902	broad.mit.edu	37	17	60744886	60744886	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60744886C>T	uc002jad.3	+	5	1511	c.1109C>T	c.(1108-1110)aCc>aTc	p.T370I		NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	370					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCCGAGCCCACCCCTCCAGGT	0.692000														134			10		0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50768820	50768820	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50768820A>G	uc001wxu.3	-	2	402	c.323T>C	c.(322-324)cTg>cCg	p.L108P	L2HGDH_uc010tqn.2_Missense_Mutation_p.L108P|L2HGDH_uc010tqo.1_Missense_Mutation_p.L108P	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	108					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					TTTGGCTTTCAGAGACTCAGG	0.408000														108			33		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42652582	42652582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42652582G>A	uc011dur.2	+	43	5124	c.4826G>A	c.(4825-4827)aGc>aAc	p.S1609N	UBR2_uc011dus.2_Missense_Mutation_p.S1254N|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.S197N|UBR2_uc021yzn.1_Non-coding_Transcript|UBR2_uc011duu.2_5'Flank	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1609					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATTACAGCAGCCTCATTAAT	0.333000														47			6		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702763	40702763	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40702763G>A	uc010mmj.3	+	3	449	c.420G>A	c.(418-420)gaG>gaA	p.E140E		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	140	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CCTCTCATGAGCCTATGGAAG	0.587000														461			54		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91346826	91346826	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91346826T>G	uc002bpr.3	+	17	3531	c.3434T>G	c.(3433-3435)cTt>cGt	p.L1145R	BLM_uc010uqh.2_Missense_Mutation_p.L1145R|BLM_uc010uqi.2_Missense_Mutation_p.L770R|BLM_uc010bnx.3_Intron	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1145					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding	p.R1144I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCCGAAAGACTTTTTAAAAAG	0.383000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					92			26		0	0	1	0	0
DHX37	57647	broad.mit.edu	37	12	125432718	125432718	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125432718G>A	uc001ugy.3	-	25	3399	c.3300C>T	c.(3298-3300)ccC>ccT	p.P1100P	DHX37_uc001ugz.1_Silent_p.P187P	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	1100							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCTCCGTACGGGGCTGCAGCC	0.627000														70			12		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137593567	137593567	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137593567G>A	uc003lcn.3	-	3	686	c.546C>T	c.(544-546)taC>taT	p.Y182Y	GFRA3_uc003lco.3_Silent_p.Y151Y	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	182					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACGCCTCCCCGTAGGCCTTGC	0.652000														126			15		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157034982	157034982	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157034982T>C	uc003fbj.2	-	9	2163	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G	VEPH1_uc003fbk.2_Missense_Mutation_p.R582G|VEPH1_uc010hvu.2_Missense_Mutation_p.R582G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	582						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACACAACTTCTCACAGTGTCT	0.378000														101			5		0	0	1	0	0
SRFBP1	153443	broad.mit.edu	37	5	121362759	121362759	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121362759C>T	uc003kst.1	+	7	1300	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*		NM_152546	NP_689759	Q8NEF9	SRFB1_HUMAN	Homo sapiens serum response factor binding protein 1 (SRFBP1), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		p.R410*(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		AAGCAGAAGGCGAAAAGAACA	0.363000														47			11		0	0	1	0	0
TMEM171	134285	broad.mit.edu	37	5	72419582	72419582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72419582G>A	uc003kcm.2	+	1	586	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TMEM171_uc003kcn.3_Missense_Mutation_p.V128I	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	Homo sapiens transmembrane protein 171 (TMEM171), transcript variant 1, mRNA.	128						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		GCTCATCAGCGTCCTGGGCAT	0.587000														229			45		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74561610	74561610	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74561610G>A	uc002lmi.3	+	1	376	c.178G>A	c.(178-180)Gag>Aag	p.E60K	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.E60K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	60					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGGATCACGAGCGAAATGA	0.358000														41			13		0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116439102	116439102	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116439102T>C	uc003pwj.3	+	5	618	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L	NT5DC1_uc003pwl.3_Missense_Mutation_p.F125L	NM_152729	NP_689942	Q5TFE4	NT5D1_HUMAN	Homo sapiens 5'-nucleotidase domain containing 1 (NT5DC1), mRNA.	175							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AATGTCAGCTTTTAAGGGTAA	0.328000														43			6		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	377297	377297	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377297A>G	uc001lpb.3	+	13	2183	c.2174A>G	c.(2173-2175)tAc>tGc	p.Y725C		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	725						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCGCTCAGTACATGGAGCGG	0.701000														31			3		0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100092477	100092477	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100092477G>T	uc003dtw.3	-	7	1689	c.1240C>A	c.(1240-1242)Ctt>Att	p.L414I		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	414					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTGATCAAGGAGTATTTTC	0.358000														72			15		2.61681e-11	2.97614e-11	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189872614	189872614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189872614C>T	uc002uqj.1	+	45	3484	c.3367C>T	c.(3367-3369)Cct>Tct	p.P1123S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1123	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTCCAGGGCCCTGCTGGTCA	0.483000														127			53		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140793471	140793471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140793471G>A	uc003lkl.2	+	0	729	c.729G>A	c.(727-729)gcG>gcA	p.A243A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Silent_p.A243A	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	239	Cadherin 3.				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)			ATGACAACGCGCCGGTCTTCA	0.582000														81			19		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274433	233274433	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751000														68			24		0	0	1	0	0
ICAM3	3385	broad.mit.edu	37	19	10444592	10444592	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10444592G>A	uc002mob.2	-	6	1640	c.1585C>T	c.(1585-1587)Ccc>Tcc	p.P529S	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.P452S	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	529					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGTGAGGGGCAGATAGGTG	0.587000														282			25		0	0	1	0	0
CCND3	896	broad.mit.edu	37	6	41908275	41908275	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41908275T>G	uc003orn.3	-	1	412	c.247A>C	c.(247-249)Aac>Cac	p.N83H	CCND3_uc003orp.3_Missense_Mutation_p.N2H|CCND3_uc011duk.2_Intron|CCND3_uc011dum.1_Missense_Mutation_p.N2H|CCND3_uc003orm.3_Missense_Mutation_p.N33H|CCND3_uc003oro.3_Intron|CCND3_uc011dul.1_Intron	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	83	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCAGGTAGTTCATGGCCAGG	0.637000			T	IGH@	MM									160			39		0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111936884	111936884	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111936884C>A	uc004bdz.1	-	25	2948	c.2653G>T	c.(2653-2655)Gaa>Taa	p.E885*		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	885						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCCAGTTCCTGCCGGAGT	0.448000														49			4		0.00909568	0.00920877	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124256171	124256171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124256171G>A	uc001uft.4	+	2	164	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	47	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGAGAACCGAATCTCTAGG	0.408000														25			6		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721855	135721855	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135721855C>A	uc003eqv.2	+	1	2132	c.1515C>A	c.(1513-1515)agC>agA	p.S505R	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	505					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTCCAGTAGCCAGGAAGAGA	0.343000														74			21		2.37509e-13	2.76693e-13	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53680262	53680262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53680262C>T	uc001sck.2	+	17	3833	c.3742C>T	c.(3742-3744)Cag>Tag	p.Q1248*	ESPL1_uc001scj.2_Nonsense_Mutation_p.Q923*|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1248					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGGTTCTACAGTCAGGGCT	0.557000														247			53		0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160238156	160238156	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160238156C>T	uc003qsy.1	+	14	1169	c.1130C>T	c.(1129-1131)gCa>gTa	p.A377V	PNLDC1_uc003qsx.1_Missense_Mutation_p.A366V	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	366						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGAAAGTGGCACACTTGCTT	0.388000														119			14		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424593	91424593	+	Missense_Mutation	SNP	G	A	A	rs145582614	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424593G>A	uc002bpu.1	+	15	2086	c.1870G>A	c.(1870-1872)Gat>Aat	p.D624N		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	624	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAAGTCCTCGATACGCACTA	0.662000														223			49		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49076311	49076311	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49076311T>C	uc001zwz.3	-	9	1373	c.1180A>G	c.(1180-1182)Att>Gtt	p.I394V	CEP152_uc001zwy.3_Missense_Mutation_p.I394V|CEP152_uc001zxa.2_Missense_Mutation_p.I301V	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	394					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CGAGAGCAAATGTCTTCCTAA	0.294000														33			14		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34953057	34953057	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34953057T>G	uc003ojx.4	+	8	1351	c.1209_splice	c.e8+2	p.P403_splice	ANKS1A_uc011dst.2_Splice_Site|ANKS1A_uc010jvp.2_Splice_Site	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	403						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GTGAGGCCTGTATGTGACCCG	0.622000														111			12		0	0	1	0	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24684946	24684946	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24684946C>T	uc001wnl.2	-	1	210	c.95G>A	c.(94-96)aGc>aAc	p.S32N	TM9SF1_uc010tob.1_5'Flank|TM9SF1_uc010toc.2_5'Flank|TM9SF1_uc001wni.3_5'Flank|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_Missense_Mutation_p.S32N|NEDD8-MDP1_uc021rrl.1_Missense_Mutation_p.S32N|NEDD8-MDP1_uc001wnm.2_Missense_Mutation_p.S32N|NEDD8-MDP1_uc021rrm.1_Intron	NM_138476	NP_612485			Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.																		ACCTCACCTGCTCTTATGGAA	0.597000											OREG0022620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		337			53		0	0	1	0	0
ZNF876P	642280	broad.mit.edu	37	4	206515	206515	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:206515C>T	uc010iba.3	+	0		c.127C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		CTGTGACCTGCGGGTATTGGA	0.637000														56			12		0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40884077	40884077	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40884077C>A	uc002onm.4	+	12	1868	c.1470C>A	c.(1468-1470)ctC>ctA	p.L490L	PLD3_uc002onj.4_Silent_p.L490L|PLD3_uc002onn.3_Silent_p.L490L	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	490					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GCCGCCTGCTCTGAGGCCCGA	0.687000														247			57		2.22609e-26	2.78174e-26	1	1	0
ALDH1A3	220	broad.mit.edu	37	15	101448629	101448629	+	Missense_Mutation	SNP	G	A	A	rs147752643		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101448629G>A	uc002bwn.4	+	11	1512	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	ALDH1A3_uc010bpb.3_Missense_Mutation_p.A363T|BC073817_uc002bwo.1_Intron|AF198444_uc021sxs.1_5'Flank	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	470					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGCTACAACGCCCTCTATGC	0.512000														101			17		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285742	130285742	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130285742C>A	uc010htl.3	+	3	1510	c.1479C>A	c.(1477-1479)taC>taA	p.Y493*		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	493	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAATAAATACTCCAACAAGC	0.488000														159			32		2.80507e-11	3.18974e-11	1	1	0
WDR49	151790	broad.mit.edu	37	3	167246892	167246892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167246892C>T	uc003fev.1	-	9	1602	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	WDR49_uc003feu.1_Missense_Mutation_p.R258Q|WDR49_uc011bpd.1_Missense_Mutation_p.R497Q|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	433										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GGTAAGGTATCGATTCATCTT	0.343000														64			10		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7211110	7211110	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7211110C>T	uc003mxb.3	+	6	991	c.499C>T	c.(499-501)Cga>Tga	p.R167*	RREB1_uc021yky.1_Nonsense_Mutation_p.R167*|RREB1_uc010jnw.3_Nonsense_Mutation_p.R167*|RREB1_uc003mxc.3_Nonsense_Mutation_p.R167*|RREB1_uc010jnx.3_Nonsense_Mutation_p.R167*|RREB1_uc003mxd.3_Nonsense_Mutation_p.R167*|RREB1_uc021ykz.1_Nonsense_Mutation_p.R167*|RREB1_uc021yla.1_Nonsense_Mutation_p.R167*	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	167					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAACGTAGGCGATTGTCCTC	0.507000														205			48		0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94847322	94847322	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94847322T>C	uc001ycy.4	-	4	1357	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.Y268C|SERPINA1_uc010auy.3_Missense_Mutation_p.Y268C|SERPINA1_uc001ycz.4_Missense_Mutation_p.Y268C|SERPINA1_uc010auz.3_Missense_Mutation_p.Y268C|SERPINA1_uc010ava.3_Missense_Mutation_p.Y268C|SERPINA1_uc001ydb.4_Missense_Mutation_p.Y268C|SERPINA1_uc010avb.3_Missense_Mutation_p.Y268C|SERPINA1_uc001ydc.4_Missense_Mutation_p.Y268C|SERPINA1_uc010auw.3_Missense_Mutation_p.Y268C|SERPINA1_uc010aux.3_Missense_Mutation_p.Y268C|SERPINA1_uc001yda.1_Missense_Mutation_p.Y268C	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	268					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	ATTGCCCAGGTATTTCATCAG	0.507000														104			24		0	0	1	0	0
FLOT1	10211	broad.mit.edu	37	6	30708465	30708465	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30708465G>A	uc003nrm.3	-	5	629	c.465C>T	c.(463-465)caC>caT	p.H155H	FLOT1_uc011dmr.2_Silent_p.H107H	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	155						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGGTCATCGTGAATGTCCT	0.478000														162			32		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286249	57286249	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286249C>A	uc002qnr.2	-	10	1773	c.1391G>T	c.(1390-1392)aGa>aTa	p.R464I	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.R260I|PEG3_uc010ygq.1_Missense_Mutation_p.R260I|PEG3_uc010etp.2_Missense_Mutation_p.R464I|PEG3_uc010ygs.1_Missense_Mutation_p.R464I|PEG3_uc002qnq.2_Missense_Mutation_p.R464I	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	602					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGGCAGGCTCTCTCTCCAAC	0.483000														73			10		0.000442599	0.000455268	1	1	0
SDR16C5	195814	broad.mit.edu	37	8	57221490	57221490	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57221490C>T	uc010lyk.1	-	3	1200	c.562G>A	c.(562-564)Gca>Aca	p.A188T	SDR16C5_uc003xsy.1_Missense_Mutation_p.A188T|SDR16C5_uc010lyl.1_Missense_Mutation_p.A144T	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	188					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TTCTTACCTGCCAGCCCATTT	0.358000														75			8		0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145651170	145651170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145651170G>A	uc003lnz.4	+	18	3087	c.2921G>A	c.(2920-2922)cGt>cAt	p.R974H		NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	974					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGACCATCGTCCCAAAGCA	0.468000														94			14		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218713723	218713723	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218713723G>A	uc002vgt.2	-	16	1540	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	TNS1_uc002vgr.2_Missense_Mutation_p.A381V|TNS1_uc002vgs.2_Missense_Mutation_p.A381V|TNS1_uc010zjv.1_Missense_Mutation_p.A381V|TNS1_uc010fvj.1_Missense_Mutation_p.A449V|TNS1_uc010fvk.1_Missense_Mutation_p.A506V|TNS1_uc010fvi.1_Missense_Mutation_p.A68V	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	381						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGCATTAACAGCCCCGGTGCT	0.602000														421			84		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980750	75980750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980750G>A	uc002baw.3	-	2	2749	c.2656C>T	c.(2656-2658)Ctc>Ttc	p.L886F		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	886	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AAGGTATAGAGTGGGGAGAAA	0.602000														130			25		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169634946	169634946	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169634946C>T	uc003qwt.3	-	10	1782	c.1534G>A	c.(1534-1536)Ggt>Agt	p.G512S		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	512	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CGGATCCCACCGGCACAGGTG	0.677000														161			34		0	0	1	0	0
HEXIM1	10614	broad.mit.edu	37	17	43227267	43227267	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43227267G>T	uc002iig.3	+	0	2584	c.710G>T	c.(709-711)aGc>aTc	p.S237I		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	237	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACGACACCAGCGATGACGAC	0.617000														159			32		5.77227e-19	6.99363e-19	1	1	0
CD19	930	broad.mit.edu	37	16	28943379	28943379	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28943379C>T	uc010byo.2	+	0	120	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P20S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	20	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GGAAGTCAGGCCCGAGGAACC	0.592000														193			19		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060121	9060121	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9060121T>A	uc002mkp.3	-	2	27529	c.27325A>T	c.(27325-27327)Act>Tct	p.T9109S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9111	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGATGCAGTTGAGTGGGTC	0.488000														123			15		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134635161	134635161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134635161C>T	uc003vrz.3	+	8	2297	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	CALD1_uc003vry.3_Nonsense_Mutation_p.R356*|CALD1_uc003vsb.3_Nonsense_Mutation_p.R356*|CALD1_uc011kpt.2_Nonsense_Mutation_p.R130*|CALD1_uc010lmm.3_Nonsense_Mutation_p.R382*|CALD1_uc003vsc.3_Nonsense_Mutation_p.R376*|CALD1_uc003vsd.3_Nonsense_Mutation_p.R350*|CALD1_uc011kpu.2_Nonsense_Mutation_p.R361*|CALD1_uc011kpv.2_Nonsense_Mutation_p.R220*|CALD1_uc003vse.3_Nonsense_Mutation_p.R475*	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	611	Tropomyosin-binding (Potential).				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	p.R611Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GATTGAAAGGCGAAGAGCAGA	0.453000														98			6		0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78086953	78086953	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78086953G>A	uc003hkq.4	+	8	1215	c.912_splice	c.e8-1	p.S304_splice	CCNG2_uc003hkn.4_Splice_Site_p.S304_splice|CCNG2_uc003hkp.4_Splice_Site_p.S304_splice	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	304					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTCTCTTTAGTGAGGACTCT	0.378000														55			8		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29236501	29236501	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236501G>A	uc001wqe.3	+	0	215	c.16G>A	c.(16-18)Gat>Aat	p.D6N		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	6					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GGACATGGGAGATAGGAAAGA	0.682000														24			4		0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542402	63542402	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63542402C>T	uc003dlp.3	+	3	689	c.393C>T	c.(391-393)aaC>aaT	p.N131N	SYNPR_uc011bfk.2_Non-coding_Transcript|SYNPR_uc011bfl.2_Intron|SYNPR_uc003dlq.3_Silent_p.N111N|SYNPR_uc010hnt.3_Silent_p.N120N|SYNPR_uc011bfm.2_Intron	NM_001130003	NP_001123475	Q8TBG9	SYNPR_HUMAN	Homo sapiens synaptoporin (SYNPR), transcript variant 1, mRNA.	111	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GGGAAAACAACCGGGGCCCAC	0.418000														31			9		0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48197882	48197882	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48197882C>T	uc002phh.4	+	7	2988	c.2794C>T	c.(2794-2796)Ccg>Tcg	p.P932S	GLTSCR1_uc002phi.4_Missense_Mutation_p.P690S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	932							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GGTCCCTGAGCCGGCAGCACC	0.682000														71			21		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31291115	31291115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31291115G>A	uc010sjy.1	-	14	2047	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					AGATAAAGCGGCTTAGGGAGT	0.398000														54			4		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140202725	140202725	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140202725G>A	uc003lhl.2	+	0	1365	c.1365G>A	c.(1363-1365)gcG>gcA	p.A455A	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_uc003lhk.1_Silent_p.A455A|PCDHAC2_uc003lhj.1_Silent_p.A455A	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		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)			CGGCGTTCGCGCAGCCCCAGT	0.677000														424			21		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	26999265	26999265	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26999265G>T	uc002rhp.1	+	4	637	c.561G>T	c.(559-561)caG>caT	p.Q187H	C2orf18_uc002rhq.1_Missense_Mutation_p.Q104H|C2orf18_uc010eyo.1_Missense_Mutation_p.Q134H|C2orf18_uc010ylc.1_Intron	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	187						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATGGCCCAGATCATCGTTG	0.592000														93			40		3.09479e-21	3.79487e-21	1	1	0
NOP56	10528	broad.mit.edu	37	20	2636638	2636638	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636638C>T	uc002wgh.3	+	7	1097	c.968C>T	c.(967-969)gCa>gTa	p.A323V	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.A157V	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	323	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGTATCCAGCATCCACAGTG	0.557000														92			10		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	651781	651781	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:651781G>A	uc010drs.3	-	3	385	c.273C>T	c.(271-273)ttC>ttT	p.F91F		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	91							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGATCTCGAAGCTGTCAT	0.677000														88			24		0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10045080	10045080	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10045080C>A	uc002qzz.3	+	8	1000	c.900C>A	c.(898-900)tgC>tgA	p.C300*	TAF1B_uc010exc.2_Nonsense_Mutation_p.C300*|TAF1B_uc002qzy.4_Nonsense_Mutation_p.C300*|TAF1B_uc010yja.2_Nonsense_Mutation_p.C45*|TAF1B_uc010exd.3_Nonsense_Mutation_p.C45*	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	300					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAAGACTGCTATCTTCATC	0.388000														92			24		4.26978e-12	4.90093e-12	1	1	0
RASGEF1A	221002	broad.mit.edu	37	10	43691985	43691985	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43691985C>T	uc001jao.1	-	11	1469	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	RASGEF1A_uc001jap.1_Missense_Mutation_p.A454T	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	454					cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	p.A401T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCAAAGGAGGCGACGAAGAGA	0.557000														148			32		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66903959	66903959	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66903959G>T	uc002jhq.3	-	17	2540	c.2200C>A	c.(2200-2202)Cct>Act	p.P734T	ABCA8_uc002jhp.3_Missense_Mutation_p.P694T|ABCA8_uc010wqq.2_Missense_Mutation_p.P734T|ABCA8_uc010wqr.2_Missense_Mutation_p.P673T|ABCA8_uc002jhr.3_Missense_Mutation_p.P734T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	694						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGGCATCAGGGATGTGCTGT	0.333000														27			10		1.58986e-06	1.69271e-06	1	1	0
HRC	3270	broad.mit.edu	37	19	49657295	49657295	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49657295C>T	uc002pmv.3	-	0	1387	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	400					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTTCATCACTCTTGTGGCCTC	0.517000														175			34		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62153813	62153813	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62153813C>T	uc003dlb.3	+	7	1728	c.1009C>T	c.(1009-1011)Cca>Tca	p.P337S	PTPRG_uc003dlc.3_Missense_Mutation_p.P337S	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	337					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTTAGAAAACCCACTGGGGAC	0.448000														91			19		0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072579	94072579	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94072579G>A	uc001tda.3	+	1	133	c.29G>A	c.(28-30)cGc>cAc	p.R10H	CRADD_uc010sur.1_Missense_Mutation_p.R10H|CRADD_uc010sus.1_Non-coding_Transcript	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	10	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	p.L9H(1)		endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CAAGTACTCCGCTCACTTCGC	0.483000														75			23		0	0	1	0	0
SLC35B4	84912	broad.mit.edu	37	7	133991519	133991519	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133991519C>T	uc003vrn.3	-	2	523	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	SLC35B4_uc010lmk.3_5'UTR|SLC35B4_uc003vro.4_Missense_Mutation_p.A67T	NM_032826	NP_116215	Q969S0	S35B4_HUMAN	Homo sapiens solute carrier family 35, member B4 (SLC35B4), mRNA.	67						Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity			large_intestine(1)|lung(2)|skin(1)|stomach(1)	5						ACCATTATGGCATAGTACCTG	0.388000														50			9		0	0	1	0	0
TCEB3B	51224	broad.mit.edu	37	18	44561072	44561072	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44561072C>T	uc002lcr.1	-	0	917	c.564G>A	c.(562-564)gcG>gcA	p.A188A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	188					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTTCCCGGGCGCAGCGGGCT	0.692000														154			30		0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90109727	90109727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90109727G>A	uc002fqi.1	+	10	1533	c.1411G>A	c.(1411-1413)Gcg>Acg	p.A471T	GAS8_uc010vps.1_Missense_Mutation_p.A446T|GAS8_uc002fqh.2_Missense_Mutation_p.A388T|GAS8_uc010cjc.1_Missense_Mutation_p.A388T|GAS8_uc010vpw.1_Missense_Mutation_p.A388T|GAS8_uc002fqj.1_Missense_Mutation_p.A279T|LOC100130015_uc002fql.3_Intron|LOC100130015_uc010cjd.3_3'UTR	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	471					negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CCAGGGCCCCGCGGGACTGGT	0.637000														149			49		0	0	1	0	0
LRRC42	115353	broad.mit.edu	37	1	54433606	54433606	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54433606C>A	uc001cwj.1	+	7	1481	c.1281C>A	c.(1279-1281)tcC>tcA	p.S427S	LRRC42_uc001cwk.1_Silent_p.S427S	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	Homo sapiens leucine rich repeat containing 42 (LRRC42), transcript variant 2, mRNA.	427				KYVCLAVEDWDLLNSY -> IFLLLWCGRGMLWKYVIISNV YFQYIVIFSNKHFCCP (in Ref. 1).						breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TGTTAAATTCCTATTGATTAG	0.388000														87			7		0.00307968	0.00313564	1	1	0
HTR1A	3350	broad.mit.edu	37	5	63256774	63256774	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:63256774G>A	uc011cqt.2	-	0	773	c.773C>T	c.(772-774)tCg>tTg	p.S258L		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	258					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.S258L(2)|p.E257G(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGCTCCCCGACTCTCCATT	0.657000														217			57		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100209827	100209827	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100209827G>T	uc002taf.3	-	13	2515	c.2371C>A	c.(2371-2373)Ctc>Atc	p.L791I	AFF3_uc002tag.3_Missense_Mutation_p.L766I|AFF3_uc010fiq.1_Missense_Mutation_p.L766I|AFF3_uc010yvr.1_Missense_Mutation_p.L919I|AFF3_uc002tah.1_Missense_Mutation_p.L791I	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	766					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TTGACCCAGAGAGACCTGATC	0.577000														150			27		8.24728e-16	9.79314e-16	1	1	0
TXNDC2	84203	broad.mit.edu	37	18	9887884	9887884	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9887884C>T	uc002koi.4	+	1	1857	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	TXNDC2_uc002koh.4_Silent_p.L403L|TXNDC2_uc021ugx.1_Silent_p.L403L	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	470	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CGGGGAGAGGCTGGTGGCTGT	0.572000														72			22		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92730814	92730814	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92730814G>A	uc003umf.3	-	2	4867	c.4597C>T	c.(4597-4599)Cga>Tga	p.R1533*	SAMD9_uc003umg.3_Nonsense_Mutation_p.R1533*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.R1533*	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1533						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTCAGCTCGACCTTGTAAA	0.383000														79			7		0	0	1	0	0
RABL2B	11158	broad.mit.edu	37	22	51208393	51208393	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51208393T>C	uc003bnm.1	-	6	720	c.349A>G	c.(349-351)Aca>Gca	p.T117A	RPL23AP82_uc011asd.2_Intron|RPL23AP82_uc003bni.3_Intron|RABL2B_uc011ase.1_Intron|RABL2B_uc011asf.1_Missense_Mutation_p.T117A|RABL2B_uc003bnn.1_Missense_Mutation_p.T117A|RABL2B_uc003bnk.1_Missense_Mutation_p.T117A|RABL2B_uc003bno.1_Missense_Mutation_p.T117A|RABL2B_uc011asg.1_Missense_Mutation_p.T117A|RABL2B_uc003bnl.1_Missense_Mutation_p.T117A	NM_001130923	NP_001124395	Q9UNT1	RBL2B_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2B (RABL2B), transcript variant 7, mRNA.	117					small GTPase mediated signal transduction		GTP binding|GTPase activity			lung(1)	1		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.0539)|LUAD - Lung adenocarcinoma(64;0.247)		CGAAGCTCTGTATACCAGGTG	0.498000														124			11		0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5694911	5694911	+	Splice_Site	SNP	C	T	T	rs138134205		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5694911C>T	uc002mcx.3	-	14	2047	c.2014_splice	c.e14-1	p.R672_splice	LONP1_uc002mcy.3_Splice_Site_p.R608_splice|LONP1_uc010duh.3_Splice_Site_p.R413_splice|LONP1_uc010dui.3_Splice_Site_p.R656_splice|LONP1_uc002mcz.3_Splice_Site_p.R476_splice	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	672					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACCAGGTAGCGCTGCAAGGG	0.637000														109			17		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593733	16593733	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16593733G>T	uc002gqk.1	+	0	95	c.19G>T	c.(19-21)Gaa>Taa	p.E7*		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	7																	CTGGGGTGGAGAAAAGCGGGG	0.647000														45			17		1.02788e-11	1.17486e-11	1	1	0
HNRNPM	4670	broad.mit.edu	37	19	8528515	8528515	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8528515C>A	uc010dwe.3	+	4	463	c.383C>A	c.(382-384)gCt>gAt	p.A128D	HNRNPM_uc010dwc.1_Missense_Mutation_p.A128D|HNRNPM_uc010xke.1_Missense_Mutation_p.A128D|HNRNPM_uc010dwd.3_Missense_Mutation_p.A128D|HNRNPM_uc002mka.3_Missense_Mutation_p.A8D	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	128	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						ATGAAAAAAGCTGCGGAAGTC	0.413000														87			21		1.10513e-12	1.27896e-12	1	1	0
RGR	5995	broad.mit.edu	37	10	86012754	86012754	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:86012754C>A	uc001kdd.1	+	3	550	c.512C>A	c.(511-513)tCc>tAc	p.S171Y	RGR_uc001kdc.1_Missense_Mutation_p.S167Y|RGR_uc001kde.1_Missense_Mutation_p.S167Y	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	167					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CTGGACTACTCCAAGGGGGAC	0.577000														69			20		1.15919e-05	1.21889e-05	1	1	0
SRPX	8406	broad.mit.edu	37	X	38020292	38020292	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:38020292G>A	uc004ddy.2	-	5	801	c.669C>T	c.(667-669)ggC>ggT	p.G223G	SRPX_uc011mki.2_Silent_p.G223G|SRPX_uc004ddz.2_Silent_p.G203G|SRPX_uc011mkh.2_Silent_p.G164G	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	223	HYR.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						CTGGGGGGAGGCCTTTTAGAA	0.438000														85			9		0	0	1	0	0
GPR19	2842	broad.mit.edu	37	12	12815366	12815366	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12815366C>A	uc001rar.3	-	1	210	c.17G>T	c.(16-18)aGa>aTa	p.R6I	GPR19_uc001raq.2_Missense_Mutation_p.R6I|GPR19_uc021qvj.1_Missense_Mutation_p.R6I	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	6						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GTTATCCATTCTGTGAGCAAA	0.428000														170			27		7.92952e-12	9.07913e-12	1	1	0
RAPGEF6	51735	broad.mit.edu	37	5	131080272	131080272	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131080272C>A	uc003kvp.2	-	1	346	c.204G>T	c.(202-204)gaG>gaT	p.E68D	RAPGEF6_uc003kvs.1_Missense_Mutation_p.E68D|RAPGEF6_uc003kvt.1_Missense_Mutation_p.E68D|RAPGEF6_uc010jdm.1_Missense_Mutation_p.E68D|RAPGEF6_uc003kvu.3_Missense_Mutation_p.E68D	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	18					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGATATGTCCTCATTTCTTC	0.363000														82			17		1.67942e-08	1.84125e-08	1	1	0
MIR365A	100126355	broad.mit.edu	37	16	14403174	14403174	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14403174G>A	uc021tdh.1	+	0		c.33G>A			mir-108-1_uc021tdi.1_Non-coding_Transcript					Homo sapiens microRNA 365a (MIR365A), microRNA.																		TTTGGGGGCAGATGTGTTTCC	0.483000														48			8		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179525504	179525504	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179525504C>A	uc003fki.1	-	13	1764	c.1634G>T	c.(1633-1635)aGa>aTa	p.R545I	PEX5L_uc011bqd.1_Missense_Mutation_p.R502I|PEX5L_uc011bqe.1_Missense_Mutation_p.R353I|PEX5L_uc011bqf.1_Missense_Mutation_p.R437I|PEX5L_uc003fkj.1_Missense_Mutation_p.R510I|PEX5L_uc010hxd.1_Missense_Mutation_p.R543I|PEX5L_uc011bqg.1_Missense_Mutation_p.R521I|PEX5L_uc011bqh.1_Missense_Mutation_p.R486I	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	545					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TAGGTTGTATCTGGACCGGAT	0.577000														357			83		4.38691e-48	5.59579e-48	1	1	0
STARD3NL	83930	broad.mit.edu	37	7	38254645	38254645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38254645G>A	uc003tfr.3	+	3	593	c.320G>A	c.(319-321)cGa>cAa	p.R107Q		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	107	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						GCAGTTTTTCGATTTAAAGTG	0.403000														55			18		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10132384	10132384	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10132384C>T	uc002mmr.3	+	5	1144	c.895C>T	c.(895-897)Ctg>Ttg	p.L299L		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	299					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCTTCAATGTCTGTCCTGCGG	0.587000														132			32		0	0	1	0	0
AY455283	0	broad.mit.edu	37	12	8048157	8048157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8048157C>T	uc001qtp.1	+	1	145	c.65C>T	c.(64-66)aCt>aTt	p.T22I						SubName: Full=Uncharacterized protein;																		CAACCCACTACTGCAGAGAAG	0.473000														142			9		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46859644	46859644	+	Silent	SNP	G	A	A	rs150510873		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46859644G>A	uc003bhw.1	-	1	4143	c.4143C>T	c.(4141-4143)cgC>cgT	p.R1381R		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1381	EGF-like 2; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCCGCCCTCGCGGCTGCGGC	0.687000														32			13		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342983	42342983	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342983G>A	uc002orp.1	-	2	1167	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LYPD4_uc002orq.1_Intron	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	61						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCGTCTCCTCGCAGCCCTCTT	0.493000														176			40		0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12496182	12496182	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12496182G>T	uc001rai.1	-	1	325	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	MANSC1_uc001raj.1_Intron	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	23						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CTAGCAGACAGCCTTAGTGTC	0.403000														93			22		5.26018e-13	6.10868e-13	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119668403	119668403	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668403C>T	uc004esw.3	-	18	2690	c.2253G>A	c.(2251-2253)ctG>ctA	p.L751L	CUL4B_uc010nqq.3_Silent_p.L452L|CUL4B_uc004esv.3_Silent_p.L733L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	751					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTAGCAGCACCAGTGTTTGAA	0.348000														135			26		0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060385	49060385	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060385C>T	uc003cvq.3	+	3	918	c.414C>T	c.(412-414)ggC>ggT	p.G138G	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Silent_p.G81G|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Silent_p.G81G|NDUFAF3_uc003cvr.3_Silent_p.G81G	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	138					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						GGCAGCGGGGCATTGCTGTGG	0.637000														247			14		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262699	45262699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262699G>A	uc003jok.3	-	7	2022	c.1997C>T	c.(1996-1998)cCg>cTg	p.P666L		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	666						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGTGTACACCGGTGGAGATTG	0.577000														137			32		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175371	207175371	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207175371G>A	uc002vbp.2	+	4	6369	c.6119G>A	c.(6118-6120)cGg>cAg	p.R2040Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2040							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGATATTCGGTTTATATGC	0.353000														27			3		0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990621	51990621	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990621C>T	uc003dca.4	+	0	1292	c.953C>T	c.(952-954)cCg>cTg	p.P318L		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	Homo sapiens G protein-coupled receptor 62 (GPR62), mRNA.	318						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCCTGCACTCCGCAAGCCTGG	0.697000														64			28		0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382464	68382464	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382464C>A	uc022byl.1	-	0	618	c.618G>T	c.(616-618)caG>caT	p.Q206H	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Missense_Mutation_p.Q206H|PJA1_uc004dxi.3_Missense_Mutation_p.Q151H|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	206							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CAGAAGACGACTGTGAGGCCA	0.542000														59			5		0.014758	0.0149061	1	1	0
PARP14	54625	broad.mit.edu	37	3	122420074	122420074	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122420074G>A	uc003efq.4	+	5	2732	c.2673G>A	c.(2671-2673)ccG>ccA	p.P891P	PARP14_uc021xdc.1_Silent_p.P755P|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Silent_p.P608P|PARP14_uc003efs.1_Silent_p.P608P	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	891	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ATGAGGCCCCGAGGTGTGTGT	0.552000														57			13		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47361598	47361598	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47361598C>A	uc002xtw.1	-	2	401	c.378G>T	c.(376-378)caG>caT	p.Q126H		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	126	DH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CATGCTGAGACTGCGGCTCCG	0.483000														304			12		7.03913e-09	7.75971e-09	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57955243	57955243	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955243C>T	uc002qoq.2	+	2	981	c.727C>T	c.(727-729)Cag>Tag	p.Q243*		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	243			Q -> R (in dbSNP:rs12986235).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TATTAAATATCAGCAAAATCA	0.413000														86			16		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154834705	154834705	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154834705A>G	uc010hvr.1	+	6	795	c.584A>G	c.(583-585)tAt>tGt	p.Y195C	MME_uc003fab.1_Missense_Mutation_p.Y195C|MME_uc003fac.1_Missense_Mutation_p.Y195C|MME_uc003fad.1_Missense_Mutation_p.Y195C|MME_uc003fae.1_Missense_Mutation_p.Y195C	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	195					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AATTCTAAATATGGGAAAAAA	0.294000														57			7		0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460089	150460089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460089G>A	uc003eyi.3	-	1	1441	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	272	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.R272Q(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GTCAATCTCCGCCGGTTCCCA	0.567000														110			31		0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014721	75014721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75014721G>T	uc002ayp.4	-	1	840	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CYP1A1_uc010bjy.3_Missense_Mutation_p.L240I|CYP1A1_uc010bju.3_5'UTR|CYP1A1_uc010bjv.3_Intron|CYP1A1_uc010bjw.3_Intron|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Missense_Mutation_p.L240I|CYP1A1_uc010bjz.1_5'UTR	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	240					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AGGTAGCGAAGAATAGGGATG	0.473000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					107			20		3.51602e-12	4.04451e-12	1	1	0
BAHD1	22893	broad.mit.edu	37	15	40751773	40751773	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751773G>T	uc001zlu.2	+	1	1181	c.1110G>T	c.(1108-1110)ggG>ggT	p.G370G	BAHD1_uc001zlt.2_Silent_p.G370G|BAHD1_uc010bbp.1_Silent_p.G370G|BAHD1_uc001zlv.2_Silent_p.G370G	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	370					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		TGTGTGTTGGGCCTGAGCTCA	0.632000														196			46		1.47857e-17	1.77599e-17	1	1	0
UBAP2	55833	broad.mit.edu	37	9	33922776	33922776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33922776C>T	uc003ztq.1	-	27	3286	c.3173G>A	c.(3172-3174)gGc>gAc	p.G1058D	UBAP2_uc011loc.1_Missense_Mutation_p.G967D|UBAP2_uc011lod.1_Missense_Mutation_p.G791D|UBAP2_uc011loe.1_Missense_Mutation_p.G813D|UBAP2_uc003ztn.1_Missense_Mutation_p.G297D|UBAP2_uc003zto.1_Missense_Mutation_p.G297D|UBAP2_uc003ztp.2_Missense_Mutation_p.G297D	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	1058										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GGGTGCATAGCCAGGGGCCGC	0.627000														131			33		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728347	50728347	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728347C>T	uc003bkv.4	-	2	760	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	223	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCGTCCTCGAAGGCCGCC	0.622000														140			34		0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103238180	103238180	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103238180G>T	uc001tjq.1	-	9	1472	c.999C>A	c.(997-999)ctC>ctA	p.L333L		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	333			L -> F (in PKU).		L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CTTGTTTGCAGAGCCCAAACT	0.423000														45			10		3.86212e-05	4.026e-05	1	1	0
F8	2157	broad.mit.edu	37	X	154156894	154156894	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154156894C>T	uc004fmt.3	-	13	5342	c.5171G>A	c.(5170-5172)aGg>aAg	p.R1724K		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1724	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATCCCAGAGCCTCTCCACTGC	0.408000														41			11		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98405355	98405355	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98405355G>T	uc001kmq.3	-	7	1378	c.1250C>A	c.(1249-1251)gCt>gAt	p.A417D	PIK3AP1_uc001kmp.3_Missense_Mutation_p.A239D	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	417						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTCGTACACAGCATCAGCCTC	0.552000														131			27		6.32553e-13	7.33687e-13	1	1	0
THADA	63892	broad.mit.edu	37	2	43814082	43814082	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43814082C>T	uc002rsw.4	-	4	714	c.362G>A	c.(361-363)cGt>cAt	p.R121H	THADA_uc002rsx.4_Missense_Mutation_p.R121H|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.R121H|THADA_uc002rtc.4_Missense_Mutation_p.R121H|THADA_uc002rtd.3_Missense_Mutation_p.R121H	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	121							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCCTGAAGACGAGAAGTAAA	0.348000														49			6		0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219764	18219764	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219764G>A	uc002gsy.4	+	0	1171	c.661G>A	c.(661-663)Gac>Aac	p.D221N		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	221										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAAAGCCAACGACAAAGGCTT	0.463000														81			5		0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74700865	74700865	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74700865T>C	uc010xfd.2	-	5	949	c.286A>G	c.(286-288)Acg>Gcg	p.T96A	MBP_uc002lml.3_Missense_Mutation_p.T122A|MBP_uc002lmn.3_Missense_Mutation_p.T122A|MBP_uc002lmp.3_Missense_Mutation_p.T96A|MBP_uc010xfe.1_Missense_Mutation_p.T96A|MBP_uc010dqz.3_5'Flank	NM_001025101	NP_001020272	P02686	MBP_HUMAN	Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA.	229					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		GTGCGAGGCGTCACCTGGAAA	0.537000														250			42		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52343868	52343868	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52343868T>A	uc003pap.4	+	7	1527	c.1312T>A	c.(1312-1314)Ttt>Att	p.F438I	EFHC1_uc011dwv.1_Missense_Mutation_p.F347I|EFHC1_uc011dww.2_Missense_Mutation_p.F419I	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	438	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AGACCGCAGATTTGTCTTCTC	0.438000														127			10		0	0	1	0	0
LOC401127	401127	broad.mit.edu	37	4	39482215	39482215	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39482215C>T	uc011byn.2	+	0		c.341C>T								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		ACTATGCTCTCTAAAGTTCAC	0.542000														168			44		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202625825	202625825	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202625825C>A	uc002uyo.3	-	3	1248	c.892G>T	c.(892-894)Gat>Tat	p.D298Y	ALS2_uc002uyp.4_Missense_Mutation_p.D298Y|ALS2_uc002uyq.3_Missense_Mutation_p.D298Y|ALS2_uc002uyr.3_Missense_Mutation_p.D298Y	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	298					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ACAGACTGATCATTTGCTACA	0.458000														223			73		4.66136e-34	5.894e-34	1	1	0
NAP1L1	4673	broad.mit.edu	37	12	76442238	76442238	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76442238G>A	uc001sxw.2	-	14	1559	c.1147C>T	c.(1147-1149)Caa>Taa	p.Q383*	NAP1L1_uc001sxz.2_Nonsense_Mutation_p.Q314*|NAP1L1_uc010stz.1_Nonsense_Mutation_p.Q200*|NAP1L1_uc001sxx.2_Nonsense_Mutation_p.Q383*|NAP1L1_uc010sty.1_Nonsense_Mutation_p.Q340*	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	383					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GCTGGGTTTTGATCCTTCTGT	0.388000														88			23		0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893616	27893616	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27893616G>T	uc002hed.2	-	0	427	c.369C>A	c.(367-369)gcC>gcA	p.A123A	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	123						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						GGTACTCCCGGGCCAGCTCAG	0.716000														83			12		7.03913e-09	7.75971e-09	1	1	0
GPR87	53836	broad.mit.edu	37	3	151012762	151012762	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151012762G>A	uc003eyt.2	-	2	633	c.272C>T	c.(271-273)aCg>aTg	p.T91M	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAATGTCAGCGTCATTATGAG	0.378000														76			21		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427765	97427765	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427765G>T	uc002swx.3	+	0	1127	c.1029G>T	c.(1027-1029)gaG>gaT	p.E343D		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	343	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AGCTGATGGAGATGTTGAAGG	0.498000														136			37		9.04072e-19	1.09469e-18	1	1	0
NPHP4	261734	broad.mit.edu	37	1	5926444	5926444	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5926444G>A	uc001alq.2	-	25	3901	c.3633C>T	c.(3631-3633)gtC>gtT	p.V1211V	NPHP4_uc001alr.1_Silent_p.V153V	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1211					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAAATGATGACAAAGAAGT	0.582000														25			3		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111163	81111163	+	Missense_Mutation	SNP	G	T	T	rs138763221		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111163G>T	uc001szg.2	+	0	456	c.321G>T	c.(319-321)aaG>aaT	p.K107N		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	107	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AAACCCTCAAGAGGTGTACCA	0.597000														177			19		1.33834e-09	1.48855e-09	1	1	0
C15orf33	196951	broad.mit.edu	37	15	49868971	49868971	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49868971A>C	uc001zxl.2	-	6	807	c.513T>G	c.(511-513)atT>atG	p.I171M	C15orf33_uc001zxm.3_Missense_Mutation_p.I171M	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	171										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TAAAAAGATAAATTTGTTCAG	0.308000														34			3		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39382969	39382969	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39382969C>T	uc003jlx.3	-	9	1623	c.1092G>A	c.(1090-1092)tgG>tgA	p.W364*	DAB2_uc003jlw.3_Nonsense_Mutation_p.W343*	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	364					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAAAAGGGCCATGGGCCTG	0.502000														105			21		0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10931982	10931982	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10931982G>T	uc002rau.3	-	5	661	c.523C>A	c.(523-525)Ctg>Atg	p.L175M	PDIA6_uc010yjg.2_Missense_Mutation_p.L172M|PDIA6_uc002rav.3_Missense_Mutation_p.L227M|PDIA6_uc010yjh.2_Missense_Mutation_p.L180M|PDIA6_uc002raw.3_Missense_Mutation_p.L223M	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	175	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TCACTGTCCAGAACATTCTTA	0.398000														76			39		9.73076e-26	1.21367e-25	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10205050	10205050	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10205050G>A	uc021ogc.1	+	18	3257	c.2569G>A	c.(2569-2571)Gca>Aca	p.A857T	UBE4B_uc001aqs.4_Missense_Mutation_p.A806T|UBE4B_uc001aqr.4_Missense_Mutation_p.A677T|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.A261T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	806					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTCCCCACTGGCAACTAGACA	0.378000														61			6		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812742	144812742	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812742C>T	uc003yzk.3	-	1	80	c.11G>A	c.(10-12)cGc>cAc	p.R4H	FAM83H_uc022bch.1_Missense_Mutation_p.R4H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	4					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTCTGAGAGCGACGGGCCAT	0.662000														50			8		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536846	146536846	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:146536846G>A	uc003weu.2	+	2	768	c.252G>A	c.(250-252)tgG>tgA	p.W84*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	84	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTATCAATGGCTTCAGGTTG	0.463000										HNSCC(39;0.1)				82			14		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284113	223284113	+	Missense_Mutation	SNP	A	C	C	rs150499113		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223284113A>C	uc021pjl.1	-	0	2261	c.2261T>G	c.(2260-2262)aTc>aGc	p.I754S	TLR5_uc001hnv.2_Missense_Mutation_p.I754S|TLR5_uc001hnw.2_Missense_Mutation_p.I754S	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	754	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAGACAAACGATCTTTCTACT	0.473000														100			24		0	0	1	0	0
ZDHHC7	55625	broad.mit.edu	37	16	85024017	85024017	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85024017G>T	uc010voi.1	-	2	561	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	ZDHHC7_uc002fiq.2_Missense_Mutation_p.L70M|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	70						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						GAAGGCAGCAGCATGACGAAA	0.557000														74			12		2.80697e-09	3.10977e-09	1	1	0
KIAA0196	9897	broad.mit.edu	37	8	126051140	126051140	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126051140C>A	uc003yrt.3	-	24	3345	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	KIAA0196_uc011lir.2_Missense_Mutation_p.D858Y	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	1006					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGTGTGTTATCTTCTTTGGGG	0.423000														199			10		7.03913e-09	7.75971e-09	1	1	0
SDF4	51150	broad.mit.edu	37	1	1153037	1153037	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1153037G>A	uc001adh.4	-	6	1273	c.944C>T	c.(943-945)gCg>gTg	p.A315V	SDF4_uc001adg.3_Non-coding_Transcript|SDF4_uc001adi.4_3'UTR|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	315	EF-hand 6.|Necessary for intracellular retention in Golgi apparatus lumen (By similarity).				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CTCGTTCAGCGCGTTGTACTC	0.652000														228			39		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89341252	89341252	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89341252G>A	uc002fmx.1	-	10	8144	c.7683C>T	c.(7681-7683)tcC>tcT	p.S2561S	ANKRD11_uc002fmy.1_Silent_p.S2561S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2561						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTAGACCTCGGAGTCCAGCA	0.647000														168			50		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383288	152383288	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152383288G>A	uc001ezx.2	-	2	344	c.270C>T	c.(268-270)agC>agT	p.S90S		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	90					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCACTCTCGCTCAGTGTCT	0.562000														485			78		0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755643	29755643	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29755643G>A	uc002dtp.2	-	1	739	c.630C>T	c.(628-630)atC>atT	p.I210I	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	210						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGAAAGCTGAGATCTGCTCCA	0.672000														51			8		0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135778797	135778797	+	Missense_Mutation	SNP	C	T	T	rs139944375	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135778797C>T	uc003qgi.3	-	8	1370	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	AHI1_uc003qgh.3_Missense_Mutation_p.R329Q|AHI1_uc003qgj.3_Missense_Mutation_p.R329Q|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.R329Q	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	329						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CGGGCTATCTCGGCTTGTTAT	0.358000														104			19		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21133870	21133870	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21133870G>A	uc001bec.3	-	31	4956	c.4700C>T	c.(4699-4701)tCt>tTt	p.S1567F	EIF4G3_uc010odi.2_Missense_Mutation_p.S1171F|EIF4G3_uc010odj.2_Missense_Mutation_p.S1566F|EIF4G3_uc009vpz.3_Missense_Mutation_p.S1287F|EIF4G3_uc001bef.3_Missense_Mutation_p.S1603F|EIF4G3_uc001bee.3_Missense_Mutation_p.S1573F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1567	EIF4A-binding (By similarity).|W2.				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGCCGTGACAGATTTCAGAGC	0.463000														288			60		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	61761071	61761071	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:61761071T>C	uc002eog.2	-	8	2418	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	CDH8_uc002eoh.3_Missense_Mutation_p.D257G	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	488	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L487L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCATTGACATCCAGCACTTT	0.403000														165			37		0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71720154	71720154	+	Missense_Mutation	SNP	C	A	A	rs148604464		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71720154C>A	uc001orl.1	-	18	5089	c.4917G>T	c.(4915-4917)gaG>gaT	p.E1639D	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.E1188D|NUMA1_uc001ork.1_Missense_Mutation_p.E503D|NUMA1_uc001orm.1_Missense_Mutation_p.E1625D|NUMA1_uc001orn.2_Missense_Mutation_p.E1202D	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1639					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCTGCAGCTGCTCCAGGCTCC	0.567000			T	RARA	APL									111			15		1.99824e-07	2.15697e-07	1	1	0
TNFSF8	944	broad.mit.edu	37	9	117692528	117692528	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117692528G>T	uc004bji.2	-	0	348	c.56C>A	c.(55-57)gCc>gAc	p.A19D	TNFSF8_uc022bmi.1_Missense_Mutation_p.A19D	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	19					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						CACATGCATGGCTGTGTCTCC	0.567000														260			48		3.93605e-18	4.74272e-18	1	1	0
CBY1	25776	broad.mit.edu	37	22	39067160	39067160	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39067160C>A	uc003awb.3	+	4	546	c.270C>A	c.(268-270)ctC>ctA	p.L90L	CBY1_uc011any.1_3'UTR|CBY1_uc003awc.3_Silent_p.L90L|BC036921_uc003awd.3_Non-coding_Transcript	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	90	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGAACAATCTCTTGCGGCTGA	0.567000														183			47		3.2641e-12	3.75851e-12	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183209999	183209999	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183209999G>A	uc003flr.3	-	6	1640	c.1582C>T	c.(1582-1584)Ctg>Ttg	p.L528L	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	528										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TAGGCGTACAGCGCTCTCATG	0.582000														88			22		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164347	92164347	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164347T>G	uc003uma.3	+	3	1121	c.1080T>G	c.(1078-1080)atT>atG	p.I360M	RBM48_uc003ulz.3_Intron			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	0							nucleotide binding										AATGGAGAATTATTTGTGGGA	0.284000														18			5		0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7496331	7496331	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7496331G>A	uc002gia.2	-	12	1864	c.1499C>T	c.(1498-1500)tCg>tTg	p.S500L	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	500						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ATTGTATCTCGAAGTGGGCCG	0.617000														121			23		0	0	1	0	0
PES1	23481	broad.mit.edu	37	22	30980611	30980611	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30980611G>A	uc003aij.2	-	4	569	c.462C>T	c.(460-462)caC>caT	p.H154H	PES1_uc003aik.2_Silent_p.H154H|PES1_uc003aio.1_Silent_p.H15H|PES1_uc003ain.1_Silent_p.H15H	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	154	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|chromosome|nucleoplasm|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						TGGTCTGCACGTGGCACTTGC	0.617000														72			17		0	0	1	0	0
MAP3K8	1326	broad.mit.edu	37	10	30747153	30747153	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30747153C>T	uc001ivi.2	+	6	1626	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	MAP3K8_uc009xlf.2_Silent_p.S338S|MAP3K8_uc001ivj.2_Silent_p.S338S	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	338	Protein kinase.				T cell costimulation|cell cycle	cytosol	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CCTATCCCTCCTACCTGTACA	0.632000														87			6		0	0	1	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39418964	39418964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39418964C>T	uc003awt.4	+	1	562	c.155C>T	c.(154-156)aCa>aTa	p.T52I	APOBEC3D_uc021wpq.1_Missense_Mutation_p.T52I|APOBEC3D_uc010gxu.3_5'UTR|APOBEC3D_uc003awu.4_Missense_Mutation_p.T52I	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	52					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTTTGGGACACAGGGGTCTTT	0.493000														136			32		0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43442565	43442565	+	Silent	SNP	C	T	T	rs143499869		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442565C>T	uc003bdi.3	-	9	1234	c.993G>A	c.(991-993)ccG>ccA	p.P331P	TTLL1_uc010gzh.3_Silent_p.P302P|TTLL1_uc021wqt.1_Silent_p.P293P|TTLL1_uc003bdj.3_Silent_p.P217P	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	331	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		ACGTGAGAGACGGGGACGCAT	0.512000														173			43		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110853794	110853794	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110853794C>A	uc001vqw.4	-	18	1197	c.1075G>T	c.(1075-1077)Ggc>Tgc	p.G359C		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	359	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGGGCCTGGCTCTCCT	0.562000														69			16		2.31682e-05	2.42268e-05	1	1	0
UBXN8	7993	broad.mit.edu	37	8	30623764	30623764	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30623764A>G	uc003xii.3	+	8	681	c.664A>G	c.(664-666)Aga>Gga	p.R222G	UBXN8_uc010lvi.3_3'UTR|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	223	UBX.				single fertilization					central_nervous_system(1)|lung(2)	3						CTGGATGACGAGAATTGGGTA	0.438000														67			9		0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48254262	48254262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48254262C>T	uc002phm.2	+	3	520	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	GLTSCR2_uc010elk.1_5'Flank	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	166				RRKEQLWEKLAKQGELPREVRRAQARLLNPSATRAKPGPQD TVERP -> SGRSSYGRSWPSRASSPGGAQGPSPVAQPFCN KGPNPAPGHRIAA (in Ref. 3; AAG30413).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCGGGAGGTGCGCAGGGCCCA	0.687000														20			3		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40754438	40754438	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40754438G>A	uc001zlu.2	+	2	1831	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	BAHD1_uc001zlt.2_Missense_Mutation_p.R586H|BAHD1_uc010bbp.1_Missense_Mutation_p.R586H|BAHD1_uc001zlv.2_Missense_Mutation_p.R587H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	587	Arg-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CGTCGCCGCCGCACTAATGGC	0.647000														368			83		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139563819	139563819	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139563819T>C	uc021zfy.1	-	9	2064	c.1899A>G	c.(1897-1899)ccA>ccG	p.P633P		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	633						cytoplasm		p.A632A(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTGCGCATGCTGGAGCAGGCA	0.647000														244			47		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54649380	54649380	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54649380G>A	uc002qdj.2	+	7	854	c.530G>A	c.(529-531)cGc>cAc	p.R177H	CNOT3_uc010yel.2_Missense_Mutation_p.R177H|CNOT3_uc002qdi.3_Missense_Mutation_p.R90H|CNOT3_uc002qdk.2_Missense_Mutation_p.R177H|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	177					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGAAGCACCGCTACCACGTG	0.607000														71			16		0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55055322	55055322	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055322G>T	uc003xsa.2	+	3	592	c.529G>T	c.(529-531)Gcc>Tcc	p.A177S		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	177					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TGTTACTACAGCCTTCTATGA	0.383000														80			19		4.96729e-08	5.40616e-08	1	1	0
AKTIP	64400	broad.mit.edu	37	16	53529183	53529183	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53529183A>G	uc002ehm.3	-	3	486	c.304T>C	c.(304-306)Tct>Cct	p.S102P	AKTIP_uc002ehk.3_Missense_Mutation_p.S102P|AKTIP_uc002ehl.3_Missense_Mutation_p.S102P|AKTIP_uc010vgx.2_Missense_Mutation_p.S102P	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	102					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTTAATGCAGAGCGATAAGAT	0.383000														91			10		0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128841803	128841803	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128841803A>C	uc003ifp.3	-	12	1702	c.1539T>G	c.(1537-1539)taT>taG	p.Y513*	MFSD8_uc011cgu.2_Nonsense_Mutation_p.Y468*	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	513					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						GAATCCTCCCATATCTTACAG	0.473000														128			25		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382446	152382446	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152382446G>T	uc001ezx.2	-	2	1186	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	371	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTCTAGCCCCTCCGTG	0.592000														390			82		4.18771e-30	5.27058e-30	1	1	0
NUDT12	83594	broad.mit.edu	37	5	102887938	102887938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102887938G>A	uc003koi.3	-	5	1351	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	NUDT12_uc011cvb.2_Missense_Mutation_p.R402C	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	420	Nudix hydrolase.					nucleus|peroxisome	NAD+ diphosphatase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		GTGAACCAGCGGGCATCCTCT	0.398000														106			19		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	737061	737061	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737061T>A	uc002ciz.1	-	2	1775	c.1015A>T	c.(1015-1017)Aac>Tac	p.N339Y	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	469										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CCCTCAGGGTTGGCGCGCTCG	0.706000														48			11		0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25131759	25131759	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25131759C>A	uc003abd.1	-	12	1967	c.1550G>T	c.(1549-1551)aGc>aTc	p.S517I	PIWIL3_uc011ajx.1_Missense_Mutation_p.S408I|PIWIL3_uc010gut.1_Missense_Mutation_p.S517I|PIWIL3_uc011ajy.1_Missense_Mutation_p.S408I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	517					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TCTGTGACTGCTCCTGCTATA	0.428000														225			45		1.5731e-28	1.97519e-28	1	1	0
NOP56	10528	broad.mit.edu	37	20	2636076	2636076	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636076G>T	uc002wgh.3	+	5	804	c.675G>T	c.(673-675)gaG>gaT	p.E225D	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Missense_Mutation_p.E59D	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	225					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACTGAATGAGGACAAGCTGG	0.542000														139			29		6.38683e-12	7.32513e-12	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14107778	14107778	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14107778A>G	uc001avi.3	+	7	4344	c.3488A>G	c.(3487-3489)aAa>aGa	p.K1163R	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.K1163R|PRDM2_uc001avk.3_Missense_Mutation_p.K962R|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1163						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGGCCCTTCAAATGTGAATTT	0.353000														148			7		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63411844	63411844	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63411844T>C	uc022byb.1	-	0	1323	c.1323A>G	c.(1321-1323)ccA>ccG	p.P441P	FAM123B_uc004dvo.3_Silent_p.P441P	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	441					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						AAGACCTAACTGGGTCAAGGA	0.532000														143			38		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228456263	228456263	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228456263G>T	uc009xez.1	+	16	4938	c.4894G>T	c.(4894-4896)Gca>Tca	p.A1632S	OBSCN_uc001hsn.3_Missense_Mutation_p.A1632S|OBSCN_uc001hso.3_Missense_Mutation_p.A78S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1632	Ig-like 17.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGCAGCCAGCACACAGGGA	0.627000														88			36		9.52127e-25	1.18461e-24	1	1	0
HSPA1A	3303	broad.mit.edu	37	6	31785396	31785396	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31785396C>T	uc003nxj.3	+	0	2106	c.1863C>T	c.(1861-1863)ggC>ggT	p.G621G	HSPA1L_uc003nxh.3_5'Flank|HSPA1L_uc010jte.3_5'Flank|HSPA1A_uc003nxi.1_Silent_p.G456G|HSPA1L_uc011dok.1_Non-coding_Transcript	NM_005345	NP_005337	P08107	HSP71_HUMAN	Homo sapiens heat shock 70kDa protein 1A (HSPA1A), mRNA.	621					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein N-terminus binding|protein binding involved in protein folding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			endometrium(1)|ovary(1)|stomach(1)	3						GGCCTGGGGGCTTCGGGGCTC	0.587000														201			46		0	0	1	0	0
FIG4	9896	broad.mit.edu	37	6	110107619	110107619	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110107619A>C	uc003ptt.2	+	17	2278	c.2063A>C	c.(2062-2064)gAt>gCt	p.D688A	FIG4_uc011eau.1_Missense_Mutation_p.D411A	NM_014845	NP_055660	Q92562	FIG4_HUMAN	Homo sapiens FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) (FIG4), mRNA.	688					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AGCTTTGATGATACCTTTTGC	0.348000														155			31		0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36793196	36793196	+	Missense_Mutation	SNP	T	G	G	rs138865963	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36793196T>G	uc010lvw.3	+	26	3295	c.3208T>G	c.(3208-3210)Tca>Gca	p.S1070A		NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	1070						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAGACACATTCAGACACAAA	0.383000														124			40		0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56831839	56831839	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56831839C>T	uc003hbi.3	+	7	1092	c.858C>T	c.(856-858)gaC>gaT	p.D286D	CEP135_uc003hbj.3_5'UTR|CEP135_uc010igz.1_Silent_p.D116D	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	286					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTAATAAAGACCTGGAGAAGC	0.328000														44			12		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9972601	9972601	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9972601C>T	uc003bua.3	+	15	1792	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	CIDEC_uc003bto.3_Intron|IL17RC_uc003btz.3_Missense_Mutation_p.A454V|IL17RC_uc011atp.2_Missense_Mutation_p.A293V|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.A454V|IL17RC_uc010hcu.3_Missense_Mutation_p.A437V|IL17RC_uc003bub.3_Missense_Mutation_p.A439V|IL17RC_uc010hcv.3_Missense_Mutation_p.A422V|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.A439V|IL17RC_uc003bue.3_Missense_Mutation_p.A90V|CRELD1_uc003buh.3_5'Flank|CRELD1_uc003buf.3_5'Flank|CRELD1_uc003bug.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	525						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GACTTGGGAGCGCTATGGGCC	0.512000														199			46		0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063696	51063696	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51063696G>A	uc003bna.4	-	7	1411	c.1149C>T	c.(1147-1149)gaC>gaT	p.D383D	ARSA_uc021wsd.1_Silent_p.D469D|ARSA_uc021wse.1_Silent_p.D469D|ARSA_uc021wsf.1_Silent_p.D469D|ARSA_uc003bmz.4_Silent_p.D467D	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	467						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	TCACAGCTGCGTCTAACTGGG	0.677000														111			33		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395477	154395477	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395477G>A	uc010jih.1	+	0	2218	c.2058G>A	c.(2056-2058)ctG>ctA	p.L686L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	686	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AATATGAGCTGCTCAAACTTG	0.428000														158			35		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205034326	205034326	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205034326G>A	uc001hbr.3	+	12	1900	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	CNTN2_uc001hbq.1_Nonsense_Mutation_p.W435*|CNTN2_uc001hbs.3_Nonsense_Mutation_p.W332*	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	544	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACCTTCACCTGGACCCTGGAC	0.582000														237			83		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617395	70617395	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70617395A>C	uc003xyl.3	-	5	2200	c.1493T>G	c.(1492-1494)cTt>cGt	p.L498R	SLCO5A1_uc010lzb.3_Missense_Mutation_p.L443R|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.L498R|SLCO5A1_uc010lzc.2_Missense_Mutation_p.L443R	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	498						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGGCACCAAGTTTCAATTT	0.398000														130			28		0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598003	49598003	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49598003T>G	uc010rhy.2	+	1	594	c.116T>G	c.(115-117)gTg>gGg	p.V39G	LOC440040_uc009ymb.3_Missense_Mutation_p.V39G					Homo sapiens glutamate receptor, metabotropic 5 pseudogene (LOC440040), non-coding RNA.																		ATTCAGAGAGTGGAGGCCATG	0.507000														62			11		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91632019	91632019	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91632019A>T	uc003ulg.3	+	7	3013	c.2788A>T	c.(2788-2790)Atg>Ttg	p.M930L	AKAP9_uc003ule.2_Missense_Mutation_p.M942L|AKAP9_uc003ulf.3_Missense_Mutation_p.M930L|AKAP9_uc003uli.3_Missense_Mutation_p.M555L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	942	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACATTGGAAATGGGTGAGGT	0.363000			T	BRAF	papillary thyroid									65			15		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408449	2408449	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2408449C>A	uc022brx.1	-	0	312	c.312G>T	c.(310-312)caG>caT	p.Q104H	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.Q104H|ZBED1_uc004cqg.2_Missense_Mutation_p.Q104H|ZBED1_uc022brw.1_Missense_Mutation_p.Q104H	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	104						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGCCCGGGCTGCTGGGACG	0.667000														212			16		0.000308642	0.000318063	1	1	0
PTGFR	5737	broad.mit.edu	37	1	79002130	79002130	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79002130C>A	uc001din.3	+	2	1104	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	280					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AAATCATTCTCTGGAAACCTG	0.358000														118			13		5.50884e-06	5.8131e-06	1	1	0
TTN	7273	broad.mit.edu	37	2	179547466	179547466	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179547466G>A	uc021vsy.1	-	131	29545	c.29320C>T	c.(29320-29322)Cgg>Tgg	p.R9774W	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6435W|TTN_uc010fre.1_Missense_Mutation_p.R621W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10701	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9774W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATACTCCCGCTCCTCGTAT	0.358000														137			40		0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2236819	2236819	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2236819C>T	uc010bsg.1	-	9	969	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	313	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGATGCTGCTCGAGGACCTGG	0.672000														129			24		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101970438	101970438	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101970438C>T	uc022cbh.1	+	0	641	c.641C>T	c.(640-642)gCc>gTc	p.A214V	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.A214V|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.A214V	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	214						cytoplasm	protein binding										AGGCCCAGGGCCAGAGAGGAG	0.542000														261			79		0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849279	134849279	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134849279T>C	uc003vsi.3	+	1	367	c.86T>C	c.(85-87)tTt>tCt	p.F29S	C7orf49_uc003vsh.3_Intron|TMEM140_uc022aly.1_Missense_Mutation_p.F29S	NM_018295	NP_060765	Q9NV12	TM140_HUMAN	Homo sapiens transmembrane protein 140 (TMEM140), mRNA.	29			F -> L (in dbSNP:rs292501).			integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						TGCCTGATGTTTTACGCTCTT	0.562000														234			63		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128676	35128676	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128676G>T	uc002xff.3	+	9	2600	c.2165G>T	c.(2164-2166)aGc>aTc	p.S722I	DLGAP4_uc010zvp.2_Missense_Mutation_p.S722I|DLGAP4_uc002xfg.3_Missense_Mutation_p.S18I|DLGAP4_uc002xfh.3_Missense_Mutation_p.S186I|DLGAP4_uc002xfi.3_Missense_Mutation_p.S31I|DLGAP4_uc002xfj.3_Missense_Mutation_p.S18I	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	725					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AATGACTCAAGCTGTAAGTCA	0.612000														133			34		1.22384e-17	1.4705e-17	1	1	0
GRID1	2894	broad.mit.edu	37	10	87482893	87482893	+	Missense_Mutation	SNP	C	T	T	rs148165863		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:87482893C>T	uc001kdl.1	-	11	1965	c.1864G>A	c.(1864-1866)Gaa>Aaa	p.E622K	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Missense_Mutation_p.E193K	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	622						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)	ACGGAAGATTCGCCACCTGCG	0.602000										Multiple Myeloma(13;0.14)				64			13		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15989758	15989758	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989758T>G	uc002gpo.3	-	23	3286	c.3017_splice	c.e23-1	p.V1006_splice	NCOR1_uc002gpn.3_Splice_Site_p.V1022_splice|NCOR1_uc002gpp.1_Splice_Site_p.V913_splice|NCOR1_uc002gpq.1_Intron	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1006	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTGAAGGACTTTTAAAAGGA	0.418000														70			11		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121769556	121769556	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121769556A>G	uc003vka.3	-	1	342	c.246T>C	c.(244-246)gaT>gaC	p.D82D	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.D82D|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	82	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.E81V(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTCAGAAATATCCTCCTGAA	0.343000														81			20		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325480	9325480	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325480A>C	uc002mla.2	-	0	68	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGAGGAGAAATTTTGATAAT	0.498000														140			17		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699912	119699912	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119699912C>A	uc002tln.1	+	0	168	c.36C>A	c.(34-36)ctC>ctA	p.L12L	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	12					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.L12L(2)|p.E11K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGACGAGCTCTTGAGTGAGA	0.438000														82			27		7.41945e-09	8.17068e-09	1	1	0
EGFL6	25975	broad.mit.edu	37	X	13645136	13645136	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13645136G>T	uc004cvj.3	+	10	1582	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	EGFL6_uc004cvi.3_Missense_Mutation_p.G431V	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	431	MAM.				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGCTATTGGCTTCTATATG	0.388000														135			27		1.75199e-13	2.04201e-13	1	1	0
USP6	9098	broad.mit.edu	37	17	5042848	5042848	+	Silent	SNP	G	A	A	rs61761605		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042848G>A	uc002gau.1	+	21	3607	c.1377G>A	c.(1375-1377)acG>acA	p.T459T	USP6_uc002gav.1_Silent_p.T459T|USP6_uc010ckz.1_Silent_p.T142T|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	459					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGCTCCCAACGGACCTGGATA	0.622000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									174			31		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25672226	25672226	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25672226T>G	uc001upy.3	+	0	1951	c.1890T>G	c.(1888-1890)acT>acG	p.T630T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	630					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.P629T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTGTTCCAACTGTTTAAAATT	0.393000														162			24		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28710482	28710482	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28710482T>G	uc002kwn.3	-	15	2942	c.2680A>C	c.(2680-2682)Aaa>Caa	p.K894Q	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	894					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CACATTTATTTCTTGATGCAT	0.393000														184			44		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55565810	55565810	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55565810C>T	uc010igr.3	+	3	721	c.634C>T	c.(634-636)Cct>Tct	p.P212S	KIT_uc010igs.3_Missense_Mutation_p.P212S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	212	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAAAGCTGTGCCTGTTGTGTC	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					91			21		0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599698	3599698	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3599698C>T	uc003jde.3	+	1	688	c.636C>T	c.(634-636)ggC>ggT	p.G212G		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G212D(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCGAGGGCGACCCGGAGA	0.627000														146			9		0	0	1	0	0
B3GALT4	8705	broad.mit.edu	37	6	33245950	33245950	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33245950C>T	uc003odr.3	+	0	1034	c.754C>T	c.(754-756)Cct>Tct	p.P252S		NM_003782	NP_003773	O96024	B3GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 (B3GALT4), mRNA.	252					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|ganglioside galactosyltransferase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						GGAGCAGTGGCCTCACACCTG	0.657000														162			45		0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128582342	128582342	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128582342C>A	uc011muk.1	-	23	3222	c.3109G>T	c.(3109-3111)Gaa>Taa	p.E1037*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.E1037*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.E1025*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.E1025*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	1037					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTCTTTTCTGCTCTCTCT	0.313000														61			13		2.68362e-12	3.09043e-12	1	1	0
KCNC4	3749	broad.mit.edu	37	1	110766034	110766034	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766034C>T	uc009wfr.3	+	1	1913	c.1127C>T	c.(1126-1128)gCc>gTc	p.A376V	KCNC4_uc001dzf.3_Missense_Mutation_p.A376V|KCNC4_uc001dzh.3_Missense_Mutation_p.A376V|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.A376V	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	376					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACCCTGAGGGCCAGCACCAAT	0.617000														160			17		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647544	38647544	+	Silent	SNP	G	A	A	rs45565936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38647544G>A	uc021wvo.1	-	8	1288	c.1236C>T	c.(1234-1236)gtC>gtT	p.V412V	SCN5A_uc021wvk.1_Silent_p.V412V|SCN5A_uc021wvl.1_Silent_p.V412V|SCN5A_uc021wvm.1_Silent_p.V412V|SCN5A_uc021wvn.1_Silent_p.V412V|SCN5A_uc021wvp.1_Silent_p.V412V|SCN5A_uc021wvq.1_Silent_p.V412V|SCN5A_uc021wvr.1_Silent_p.V412V|SCN5A_uc021wvs.1_Silent_p.V412V|SCN5A_uc021wvt.1_Silent_p.V412V|SCN5A_uc021wvu.1_Silent_p.V412V|SCN5A_uc021wvv.1_Silent_p.V412V|SCN5A_uc021wvj.1_Silent_p.V278V|SCN5A_uc021wvi.1_Silent_p.V278V|SCN5A_uc021wvw.1_Silent_p.V23V	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	412					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCCATTGCGACCACGGCCA	0.542000														97			29		0	0	1	0	0
TAP1	6890	broad.mit.edu	37	6	32818155	32818155	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32818155A>C	uc003ocg.3	-	4	1525	c.1370T>G	c.(1369-1371)aTa>aGa	p.I457R	TAP1_uc011dqi.2_Missense_Mutation_p.I196R	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	457	ABC transmembrane type-1.|Involved in peptide-binding site.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	TAP complex|cytosol|plasma membrane	ADP binding|ATP binding|MHC class I protein binding|TAP1 binding|TAP2 binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						GAGTGTCTTTATTTCTTGCAG	0.517000														125			28		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147694892	147694892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147694892C>T	uc003qlz.3	+	25	3282	c.3107C>T	c.(3106-3108)cCt>cTt	p.P1036L	STXBP5_uc010khz.2_Missense_Mutation_p.P1000L|STXBP5_uc003qly.3_Missense_Mutation_p.P691L	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1036					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CTCTTCACTCCTGTAGAAACA	0.353000														75			16		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89034473	89034473	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89034473G>A	uc003hrg.3	-	8	1669	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	ABCG2_uc003hrh.3_Silent_p.P392P|ABCG2_uc003hrf.3_Silent_p.P260P	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	392	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAGAGGCCTGGGGATTACCCA	0.423000														165			37		0	0	1	0	0
NICN1	84276	broad.mit.edu	37	3	49463818	49463818	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49463818C>A	uc003cwz.1	-	1	261	c.176G>T	c.(175-177)aGc>aTc	p.S59I	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.S59I	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	59						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GACACGGATGCTCAAAAAAGC	0.517000														94			8		0.000157383	0.000162836	1	1	0
PPL	5493	broad.mit.edu	37	16	4934822	4934822	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934822G>A	uc002cyd.1	-	21	3924	c.3834C>T	c.(3832-3834)gcC>gcT	p.A1278A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1278					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						TGTCTTTCAGGGCCTGGATTT	0.522000														340			82		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2797893	2797893	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2797893C>A	uc009zdu.1	+	48	6627	c.6314C>A	c.(6313-6315)gCt>gAt	p.A2105D	CACNA1C_uc001qkc.2_Missense_Mutation_p.A2041D|CACNA1C_uc001qjz.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qkd.2_Missense_Mutation_p.A2041D|CACNA1C_uc001qke.2_Missense_Mutation_p.A2011D|CACNA1C_uc001qkf.2_Missense_Mutation_p.A2030D|CACNA1C_uc009zdw.1_Missense_Mutation_p.A2063D|CACNA1C_uc001qkg.2_Missense_Mutation_p.A2028D|CACNA1C_uc001qkh.2_Missense_Mutation_p.A2030D|CACNA1C_uc001qkl.2_Missense_Mutation_p.A2070D|CACNA1C_uc001qkj.2_Missense_Mutation_p.A2057D|CACNA1C_uc001qkk.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qkn.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qkm.2_Missense_Mutation_p.A2082D|CACNA1C_uc001qko.2_Missense_Mutation_p.A2042D|CACNA1C_uc001qkp.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qkq.2_Missense_Mutation_p.A2050D|CACNA1C_uc001qku.2_Missense_Mutation_p.A2057D|CACNA1C_uc001qkr.2_Missense_Mutation_p.A2039D|CACNA1C_uc001qks.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qkt.2_Missense_Mutation_p.A2041D|CACNA1C_uc009zdv.1_Missense_Mutation_p.A2019D|CACNA1C_uc001qkb.2_Missense_Mutation_p.A2022D|CACNA1C_uc001qki.1_Missense_Mutation_p.A1829D|CACNA1C_uc010sea.1_Missense_Mutation_p.A713D|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.A340D	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	2105					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCAGCCAGGCTGGGGCCCCA	0.721000														56			10		0.00621372	0.00630477	1	1	0
OLFM1	10439	broad.mit.edu	37	9	137998692	137998692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137998692C>T	uc010nar.3	+	4	793	c.774C>T	c.(772-774)ggC>ggT	p.G258G	OLFM1_uc004cfl.4_Silent_p.G240G|OLFM1_uc004cfn.4_Silent_p.G9G	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	258	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCCCTGAAGGCGATAACCGGG	0.617000														27			4		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837166	82837166	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82837166A>G	uc003kii.3	+	7	8700	c.8344A>G	c.(8344-8346)Att>Gtt	p.I2782V	VCAN_uc003kij.3_Missense_Mutation_p.I1795V|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.I1446V	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2782	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CTATCTAAGTATTGCTACTAC	0.438000														159			27		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47891485	47891485	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891485C>T	uc003cru.3	+	21	3886	c.3460C>T	c.(3460-3462)Cgc>Tgc	p.R1154C	DHX30_uc003crt.3_Missense_Mutation_p.R1115C	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1154						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCGGAGCCTGCGCAGCGAGCT	0.692000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		77			16		0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27679922	27679922	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27679922C>T	uc001mrv.3	-	1	548	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	BDNF-AS_uc009yip.3_Non-coding_Transcript|BDNF-AS_uc001mrn.3_Non-coding_Transcript|BDNF-AS_uc001mro.3_Non-coding_Transcript|BDNF-AS_uc001mrm.3_Non-coding_Transcript|BDNF-AS_uc009yiq.3_Non-coding_Transcript|BDNF-AS_uc001mrp.3_Non-coding_Transcript|BDNF-AS_uc009yij.3_Non-coding_Transcript|BDNF-AS_uc009yik.3_Non-coding_Transcript|BDNF-AS_uc009yil.3_Non-coding_Transcript|BDNF-AS_uc009yin.3_Non-coding_Transcript|BDNF-AS_uc009yio.3_Non-coding_Transcript|BDNF-AS_uc009yim.3_Non-coding_Transcript|BDNF-AS_uc009yir.3_Non-coding_Transcript|BDNF-AS_uc009yis.3_Intron|BDNF-AS_uc009yiu.3_Non-coding_Transcript|BDNF-AS_uc009yix.3_Non-coding_Transcript|BDNF-AS_uc009yiy.3_Non-coding_Transcript|BDNF-AS_uc001mrq.4_Non-coding_Transcript|BDNF-AS_uc009yiw.3_Non-coding_Transcript|BDNF-AS_uc009yiz.3_Non-coding_Transcript|BDNF-AS_uc001mrr.4_Non-coding_Transcript|BDNF-AS_uc009yit.3_Non-coding_Transcript|BDNF-AS_uc009yiv.3_Non-coding_Transcript|BDNF-AS_uc009yja.3_Non-coding_Transcript|BDNF-AS_uc009yjb.3_Non-coding_Transcript|BDNF_uc021qff.1_Missense_Mutation_p.E64K|BDNF_uc010rdu.2_Missense_Mutation_p.E64K|BDNF_uc001mrt.3_Missense_Mutation_p.E79K|BDNF_uc010rdw.2_Missense_Mutation_p.E64K|BDNF_uc009yjd.3_Missense_Mutation_p.E64K|BDNF_uc001mru.3_Missense_Mutation_p.E64K|BDNF_uc010rdx.2_Missense_Mutation_p.E64K|BDNF_uc009yjf.3_Missense_Mutation_p.E93K|BDNF_uc010rdy.2_Missense_Mutation_p.E64K|BDNF_uc009yjg.3_Missense_Mutation_p.E64K|BDNF_uc009yje.3_Missense_Mutation_p.E146K|BDNF_uc001mrw.4_Missense_Mutation_p.E64K|BDNF_uc001mry.4_Missense_Mutation_p.E64K|BDNF_uc001mrz.4_Missense_Mutation_p.E64K|BDNF_uc001mrx.3_Missense_Mutation_p.E64K|BDNF_uc001msa.3_Missense_Mutation_p.E72K	NM_170733	NP_733931	P23560	BDNF_HUMAN	Homo sapiens brain-derived neurotrophic factor (BDNF), transcript variant 5, mRNA.	64						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ATCACGTGTTCGAAAGTGTCA	0.532000														250			50		0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277580	140277580	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140277580A>C	uc003etn.3	+	11	2112	c.1922A>C	c.(1921-1923)gAc>gCc	p.D641A		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	641					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.D641N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CGGGGCACAGACCACTTCTGG	0.572000										HNSCC(16;0.037)				139			27		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159178373	159178373	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178373G>A	uc003qrp.3	+	14	1667	c.1268G>A	c.(1267-1269)aGc>aAc	p.S423N	SYTL3_uc003qrr.3_Missense_Mutation_p.S423N|SYTL3_uc003qro.3_Missense_Mutation_p.S355N|SYTL3_uc003qrs.3_Missense_Mutation_p.S355N|SYTL3_uc011efq.2_Missense_Mutation_p.S149N	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	423					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TTTGAAGACAGCACAACACAG	0.557000														125			8		0	0	1	0	0
SLC25A24	29957	broad.mit.edu	37	1	108742604	108742604	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:108742604T>C	uc001dvn.4	-	0	371	c.157A>G	c.(157-159)Atc>Gtc	p.I53V		NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CCCAGAGGGATGCCCAGGTTC	0.721000														34			5		0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68156483	68156483	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156483C>T	uc002evo.2	+	1	1013	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.H233Y|NFATC3_uc002evm.2_Missense_Mutation_p.H233Y|NFATC3_uc002evn.2_Missense_Mutation_p.H233Y|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	233	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	p.G232V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TGGACTTGGACACTCATTATC	0.552000														110			23		0	0	1	0	0
ARMCX6	54470	broad.mit.edu	37	X	100871474	100871474	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100871474T>C	uc022cao.1	-	0	137	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ARMCX6_uc022cal.1_Intron|ARMCX6_uc022cam.1_Intron|ARMCX6_uc022can.1_Missense_Mutation_p.D46G|ARMCX6_uc004ehx.3_Missense_Mutation_p.D46G|ARMCX6_uc004ehy.3_Missense_Mutation_p.D46G	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	Homo sapiens armadillo repeat containing, X-linked 6 (ARMCX6), transcript variant 1, mRNA.	46						integral to membrane				endometrium(3)|kidney(1)|liver(2)|lung(3)	9						ctggtcatcgtcccactcctc	0.537000														128			27		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70785502	70785502	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70785502A>C	uc003kbp.1	+	9	1748	c.1485A>C	c.(1483-1485)aaA>aaC	p.K495N	BDP1_uc003kbn.1_Missense_Mutation_p.K495N|BDP1_uc003kbo.3_Missense_Mutation_p.K495N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	495					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGAGAAAAACACAAGAGTA	0.348000														68			17		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8548057	8548057	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8548057C>T	uc010dwe.3	+	12	1216	c.1136C>T	c.(1135-1137)gCa>gTa	p.A379V	HNRNPM_uc010xke.1_Missense_Mutation_p.A325V|HNRNPM_uc010dwd.3_Missense_Mutation_p.A340V|HNRNPM_uc002mka.3_Missense_Mutation_p.A244V	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	379					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CTAAGTAATGCACTGAAGAGA	0.388000														85			11		0	0	1	0	0
AB231784	0	broad.mit.edu	37	11	89385740	89385740	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89385740C>A	uc001pcz.3	+	0		c.27C>A								Homo sapiens mRNA for hypothetical protein, partial cds, clone:Hsa11-digit35-15-11-R.																		TCTTTCAGTGCTTTCTCTCCT	0.338000														83			16		6.49762e-13	7.53005e-13	1	1	0
TLE6	79816	broad.mit.edu	37	19	2987962	2987962	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2987962G>A	uc002lwt.2	+	9	801	c.692G>A	c.(691-693)gGt>gAt	p.G231D	TLE6_uc002lwu.2_Missense_Mutation_p.G108D	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	108					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGTTGGGGTGTGGTCCAG	0.667000														56			6		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12694290	12694290	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12694290G>A	uc002mtz.2	-	2	372	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	81	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						CATCTCTGTAGATATTCCTCT	0.488000														214			12		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77287542	77287542	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77287542C>T	uc010xfg.2	+	9	3250	c.2797C>T	c.(2797-2799)Cga>Tga	p.R933*	NFATC1_uc002lnd.3_3'UTR|NFATC1_uc002lne.3_3'UTR|NFATC1_uc010xfh.2_Nonsense_Mutation_p.R703*|NFATC1_uc010xfj.2_Nonsense_Mutation_p.R461*|NFATC1_uc002lnf.3_Nonsense_Mutation_p.R920*|NFATC1_uc002lng.3_3'UTR|NFATC1_uc010xfk.2_Nonsense_Mutation_p.R690*|NFATC1_uc010drc.3_Non-coding_Transcript	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	933	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TGAAATAATACGAAATGACCT	0.428000														99			8		0	0	1	0	0
RTN4	57142	broad.mit.edu	37	2	55252338	55252338	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55252338C>T	uc002rye.3	-	2	3195	c.2897G>A	c.(2896-2898)aGc>aAc	p.S966N	RTN4_uc002ryd.3_Missense_Mutation_p.S760N|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	966					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTAACTATGCTCTCTATCTC	0.403000														128			10		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42683124	42683124	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683124C>T	uc010ggo.3	+	4	877	c.837C>T	c.(835-837)atC>atT	p.I279I	TOX2_uc002xle.4_Silent_p.I237I|TOX2_uc010ggp.3_Silent_p.I237I|TOX2_uc002xlf.4_Silent_p.I288I|TOX2_uc010zwk.2_Silent_p.I157I	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGTCCAAAATCGTGGCCTCCA	0.592000														59			19		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5521531	5521531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5521531C>T	uc003son.4	-	4	2126	c.2032G>A	c.(2032-2034)Gtc>Atc	p.V678I		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGAAGATGACGACGTTTAAC	0.632000														241			51		0	0	1	0	0
RDH8	50700	broad.mit.edu	37	19	10129521	10129521	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10129521T>G	uc002mmr.3	+	2	626	c.377T>G	c.(376-378)cTt>cGt	p.L126R		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	126					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAAGCTGTGCTTCCAGGCATG	0.607000														203			68		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118978770	118978770	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118978770G>T	uc001pvn.3	+	0	678	c.319G>T	c.(319-321)Gtg>Ttg	p.V107L	C2CD2L_uc001pvo.3_Missense_Mutation_p.V107L	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	107						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GCGGGCTTGGGTGCGAGCGCT	0.662000														113			16		1.02788e-11	1.17486e-11	1	1	0
SRSF6	6431	broad.mit.edu	37	20	42089353	42089353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42089353C>T	uc010zwg.2	+	5	855	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	SRSF6_uc002xki.3_Missense_Mutation_p.R100W	NM_006275	NP_006266	Q13247	SRSF6_HUMAN	Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA.	229	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						TTCCAGGTCGCGGAGCAAAGG	0.443000														65			14		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17132946	17132946	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17132946C>A	uc002nfb.3	-	1	311	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	46						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGATGACTTCCTCCACGCCCG	0.602000														24			12		0.00010058	0.000104357	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35254112	35254112	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35254112T>C	uc003oki.1	+	3	373	c.168T>C	c.(166-168)ttT>ttC	p.F56F	ZNF76_uc011dsy.1_Silent_p.F56F|ZNF76_uc011dsz.1_Silent_p.F56F|ZNF76_uc003okj.1_Silent_p.F56F|ZNF76_uc011dsx.2_Silent_p.F56F	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	56	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CTCTCTCCTTTGAGGATGGTC	0.577000														90			13		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35914119	35914119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35914119C>T	uc002hoa.3	-	13	1789	c.1706G>A	c.(1705-1707)gGt>gAt	p.G569D	SYNRG_uc010wde.2_Missense_Mutation_p.G491D|SYNRG_uc010wdf.2_Missense_Mutation_p.G491D|SYNRG_uc002hoc.3_Missense_Mutation_p.G490D|SYNRG_uc002hoe.3_Missense_Mutation_p.G491D|SYNRG_uc002hod.3_Missense_Mutation_p.G491D|SYNRG_uc010wdg.2_Missense_Mutation_p.G408D|SYNRG_uc002hob.3_Missense_Mutation_p.G569D|SYNRG_uc002hof.3_Missense_Mutation_p.G281D|SYNRG_uc010cvd.1_Missense_Mutation_p.G369D	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	569	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATCGGTGAAACCATCATCAGT	0.398000														121			16		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40421334	40421334	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40421334T>C	uc002omp.4	-	4	2595	c.2587A>G	c.(2587-2589)Acc>Gcc	p.T863A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	863	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTGGCAGGTCCCGAAGCGA	0.682000														43			13		0	0	1	0	0
C20orf27	54976	broad.mit.edu	37	20	3735096	3735096	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3735096G>A	uc002wjh.1	-	4	676	c.447C>T	c.(445-447)tgC>tgT	p.C149C	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Silent_p.C124C	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	124										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						TGCCACCTTCGCAGGCTAGCA	0.607000														232			43		0	0	1	0	0
HEXB	3074	broad.mit.edu	37	5	74009400	74009400	+	Nonsense_Mutation	SNP	C	T	T	rs138914144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74009400C>T	uc003kdf.4	+	6	958	c.841C>T	c.(841-843)Cga>Tga	p.R281*	HEXB_uc003kdd.3_Nonsense_Mutation_p.R56*	NM_000521	NP_000512	P07686	HEXB_HUMAN	Homo sapiens hexosaminidase B (beta polypeptide) (HEXB), mRNA.	281					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TGCCAGATTACGAGGAATTCG	0.343000														142			28		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936593	15936593	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936593G>T	uc003jfn.1	+	3	1255	c.774G>T	c.(772-774)cgG>cgT	p.R258R		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	258					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R258W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCTTGACCCGGGAGGCCTCCA	0.577000														70			11		5.16669e-11	5.85653e-11	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47126761	47126761	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47126761G>T	uc002iom.3	+	14	2023	c.1689G>T	c.(1687-1689)caG>caT	p.Q563H	IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q424H	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	563	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTAAGCAGCAGCATCAGAAGG	0.577000														51			6		3.09899e-07	3.33423e-07	1	1	0
NR1H3	10062	broad.mit.edu	37	11	47281365	47281365	+	Missense_Mutation	SNP	C	T	T	rs139438525		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47281365C>T	uc009ylm.3	+	2	317	c.67C>T	c.(67-69)Cca>Tca	p.P23S	NR1H3_uc010rhk.2_Missense_Mutation_p.P29S|NR1H3_uc009yll.2_Missense_Mutation_p.P29S|NR1H3_uc001nek.3_5'UTR|NR1H3_uc001nen.4_Missense_Mutation_p.P23S|NR1H3_uc001nem.3_Missense_Mutation_p.P23S	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	23					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCTGTGGAAGCCAGGCGCACA	0.652000											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		107			19		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153905988	153905988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153905988G>A	uc001fdd.1	-	19	3702	c.3301C>T	c.(3301-3303)Cgg>Tgg	p.R1101W		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1101										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCGCTCCCGGGGGTGCAGA	0.662000														73			26		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17394704	17394704	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17394704A>C	uc003zmz.2	+	14	2278	c.2252A>C	c.(2251-2253)aAa>aCa	p.K751T	CNTLN_uc003zmy.3_Missense_Mutation_p.K751T|CNTLN_uc010mio.3_Missense_Mutation_p.K430T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	751						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGGGAGTAAAGATGTAGAA	0.363000														58			23		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39822803	39822803	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39822803C>T	uc003axt.3	+	8	1066	c.1017C>T	c.(1015-1017)agC>agT	p.S339S	TAB1_uc003axr.3_Silent_p.S415S|TAB1_uc011aok.2_Silent_p.S173S|TAB1_uc003axu.1_Silent_p.S339S	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	339	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GCATCCACAGCGACACCTTCG	0.627000														253			56		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45262730	45262730	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45262730C>A	uc010xxe.2	+	8	1293	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	408	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	p.P407T(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CAGTCTCCCCCCAGGGACCCC	0.627000			T	IGH@	CLL									836			27		7.38237e-10	8.2451e-10	1	1	0
T	6862	broad.mit.edu	37	6	166580185	166580185	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166580185G>A	uc003qut.1	-	1	652	c.366C>T	c.(364-366)tgC>tgT	p.C122C	T_uc003quu.1_Silent_p.C122C|T_uc003quv.1_Silent_p.C122C	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	122					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGATGTAGACGCAGCTGGGCG	0.652000									Chordoma, Familial Clustering of					267			20		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69348991	69348991	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69348991C>T	uc002ars.2	+	15	2294	c.2253C>T	c.(2251-2253)ggC>ggT	p.G751G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.G705G|NOX5_uc002arp.2_Silent_p.G733G|NOX5_uc010bid.2_Silent_p.G716G|NOX5_uc010bie.2_Silent_p.G551G|NOX5_uc002arr.2_Silent_p.G723G|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	751					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TGCTGAAGGGCCATTGTGAGA	0.537000														96			21		0	0	1	0	0
ZNF114	163071	broad.mit.edu	37	19	48785680	48785680	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48785680C>T	uc002pil.1	+	4	559	c.62C>T	c.(61-63)aCc>aTc	p.T21I	ZNF114_uc010elv.1_Missense_Mutation_p.T21I|ZNF114_uc002pim.1_Missense_Mutation_p.T21I|ZNF114_uc002pin.2_5'UTR	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		GAGGAGTGGACCCTGCTGGAC	0.512000														239			43		0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335787	82335787	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335787G>A	uc002bgq.1	-	1	1739	c.1424C>T	c.(1423-1425)gCc>gTc	p.A475V		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	475					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CAGCCCGTTGGCATAAGCGGC	0.697000														27			4		0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231406637	231406637	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231406637C>T	uc002vqu.1	+	27	2575	c.2434C>T	c.(2434-2436)Ccc>Tcc	p.P812S	SP100_uc010fxp.1_Missense_Mutation_p.P130S	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		CCCACAGAAGCCCATGTGGTT	0.458000														91			22		0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9695662	9695662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9695662C>T	uc002qzu.3	-	0	256	c.73G>A	c.(73-75)Ggc>Agc	p.G25S	ADAM17_uc010ewy.3_Missense_Mutation_p.G25S|ADAM17_uc010ewz.3_Missense_Mutation_p.G25S|ADAM17_uc010exb.1_Missense_Mutation_p.G25S|ADAM17_uc002qzv.3_Missense_Mutation_p.G25S	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	25					B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		GGGCCGAAGCCCGGGTCATCC	0.652000											OREG0014419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			5		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23185946	23185946	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23185946G>T	uc003xdh.1	-	5	1438	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M		NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	367	SRCR 3.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCAAAGCCCAGCTCTCTGCAG	0.627000														196			66		1.33661e-31	1.68594e-31	1	1	0
PRR12	57479	broad.mit.edu	37	19	50098064	50098064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098064G>A	uc002poo.4	+	3	472	c.472G>A	c.(472-474)Ggc>Agc	p.G158S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	571	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCTTCCTTCGGCAGCCGCCC	0.667000														48			16		0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205779272	205779272	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779272G>T	uc001hdh.1	-	1	1170	c.298C>A	c.(298-300)Ctg>Atg	p.L100M		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	100						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGTACTTGCAGCCCGATGGAA	0.602000														213			71		7.577e-32	9.55896e-32	1	1	0
APBB2	323	broad.mit.edu	37	4	40832536	40832536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40832536G>A	uc003gvn.3	-	12	2218	c.1588C>T	c.(1588-1590)Cga>Tga	p.R530*	APBB2_uc010ifu.3_Nonsense_Mutation_p.R101*|APBB2_uc003gvl.3_Nonsense_Mutation_p.R529*|APBB2_uc003gvm.3_Nonsense_Mutation_p.R508*|APBB2_uc003gvk.3_5'UTR|APBB2_uc021xnt.1_5'UTR	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	529	PID 1.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GTGTCACATCGAAATACATGA	0.433000														91			15		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7978974	7978974	+	Silent	SNP	C	A	A	rs149967531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7978974C>A	uc002gjy.1	-	11	1854	c.1593G>T	c.(1591-1593)ccG>ccT	p.P531P		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	531	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ACTGCAATTCCGGATCACCCT	0.582000										Multiple Myeloma(8;0.094)				404			87		1.92282e-43	2.44837e-43	1	1	0
SNAI3	333929	broad.mit.edu	37	16	88744989	88744989	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88744989C>T	uc002flj.3	-	2	814	c.746G>A	c.(745-747)cGc>cAc	p.R249H	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	249					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		AAGGTTGGAGCGGTCGGCAAA	0.647000														105			12		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120568522	120568522	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120568522G>A	uc001txo.3	-	55	7612	c.7599C>T	c.(7597-7599)ggC>ggT	p.G2533G		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	2533					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGAGAAAGCCCATGCCCC	0.612000														90			11		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238053923	238053923	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238053923G>A	uc001hym.3	-	0	300	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	5					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.R5W(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAAACGCACCGCAGCAGCCAC	0.557000														79			21		0	0	1	0	0
LMAN2	10960	broad.mit.edu	37	5	176778195	176778195	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176778195C>T	uc003mge.3	-	1	531	c.294G>A	c.(292-294)gaG>gaA	p.E98E		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	98	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATAGAGCCCTCTTTGCTGC	0.607000														284			34		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45431796	45431796	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45431796C>T	uc001zus.1	+	13	1735	c.1389_splice	c.e13+1	p.T463_splice	DUOX1_uc001zut.1_Splice_Site_p.T463_splice|DUOX1_uc010bee.1_Intron	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	463	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCAATGACACTGTGAGGAGG	0.602000														87			16		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155491144	155491144	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155491144C>T	uc009wqq.3	-	1	647	c.167G>A	c.(166-168)aGa>aAa	p.R56K	ASH1L_uc001fkt.3_Missense_Mutation_p.R56K|ASH1L_uc009wqr.1_Missense_Mutation_p.R56K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	56					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCGATGTTTCTTTCTCGATT	0.398000														478			92		0	0	1	0	0
EBF3	253738	broad.mit.edu	37	10	131666130	131666130	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:131666130C>T	uc021qav.1	-	8	860	c.759G>A	c.(757-759)acG>acA	p.T253T	EBF3_uc001lki.2_Silent_p.T267T	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	276					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TGGCACCCCCCGTGGTCCAGC	0.582000														135			27		0	0	1	0	0
C20orf96	140680	broad.mit.edu	37	20	259966	259966	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:259966C>T	uc002wde.2	-	4	480	c.312G>A	c.(310-312)tcG>tcA	p.S104S	C20orf96_uc021vzl.1_Silent_p.S103S|C20orf96_uc010zpi.2_Silent_p.S51S|C20orf96_uc010zpj.1_Silent_p.S69S|C20orf96_uc010zpk.2_Silent_p.S42S	NM_153269	NP_695001	Q9NUD7	CT096_HUMAN	Homo sapiens chromosome 20 open reading frame 96 (C20orf96), transcript variant 1, mRNA.	104										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CGCTCCTGAGCGAGGTCTGCG	0.706000														124			23		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12416088	12416088	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12416088G>A	uc001atv.3	+	47	9953	c.9812G>A	c.(9811-9813)cGa>cAa	p.R3271Q	VPS13D_uc001atw.3_Missense_Mutation_p.R3246Q|VPS13D_uc001atx.3_Missense_Mutation_p.R2458Q	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3270					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTGTGTGTCGAGCAGAAGGA	0.468000														99			30		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79650542	79650542	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79650542A>G	uc011dyp.2	-	39	5557	c.5331T>C	c.(5329-5331)taT>taC	p.Y1777Y	PHIP_uc003piq.3_Silent_p.Y802Y|PHIP_uc003pir.3_Silent_p.Y1778Y|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.4_Silent_p.Y664Y	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1778					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CATCCTCATTATAGAAAGCTG	0.428000														98			17		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145849232	145849232	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849232G>A	uc003lob.3	+	6	1364	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N	TCERG1_uc003loc.3_Missense_Mutation_p.D421N|TCERG1_uc011dbt.2_Missense_Mutation_p.D421N	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	442	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAACAGCAGATGGGAAGAC	0.383000														228			56		0	0	1	0	0
ARC	23237	broad.mit.edu	37	8	143694703	143694703	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143694703C>A	uc022bca.1	-	0	930	c.930G>T	c.(928-930)caG>caT	p.Q310H	ARC_uc003ywn.1_Missense_Mutation_p.Q310H	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	310					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CGTAGAGCGTCTGGTACAGGT	0.667000														129			38		1.836e-18	2.21806e-18	1	1	0
CABIN1	23523	broad.mit.edu	37	22	24509677	24509677	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24509677C>T	uc002zzi.1	+	26	4389	c.4262C>T	c.(4261-4263)gCg>gTg	p.A1421V	CABIN1_uc021wnc.1_Missense_Mutation_p.A1371V|CABIN1_uc002zzj.1_Missense_Mutation_p.A1342V|CABIN1_uc002zzl.2_Missense_Mutation_p.A1421V	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1421					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAAGCAGGAGCGACGGGTAAA	0.507000														179			34		0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179676059	179676059	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179676059C>T	uc003mls.4	-	5	801	c.530G>A	c.(529-531)tGc>tAc	p.C177Y	MAPK9_uc003mlv.4_Missense_Mutation_p.C177Y|MAPK9_uc003mlt.4_Missense_Mutation_p.C177Y|MAPK9_uc010jlc.3_Missense_Mutation_p.C177Y|MAPK9_uc021yji.1_Missense_Mutation_p.C151Y|MAPK9_uc021yjj.1_Missense_Mutation_p.C177Y|MAPK9_uc021yjk.1_Missense_Mutation_p.C177Y|MAPK9_uc021yjl.1_Missense_Mutation_p.C177Y|MAPK9_uc011dgx.2_Missense_Mutation_p.C177Y	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	177	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGTTAGTGCACGCTGTCCG	0.512000														337			86		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196386811	196386811	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196386811C>T	uc003fwv.3	+	2	401	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	99						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TCAGCCGCGGCGCCTTCCAGG	0.657000														96			22		0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862894	135862894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135862894G>A	uc004fab.3	-	0	610	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	50	CH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ACAGAGCCAGGCATGAGTCTG	0.428000														199			61		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128301	68128301	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128301A>G	uc002jiq.3	+	2	309	c.169A>G	c.(169-171)Att>Gtt	p.I57V	KCNJ16_uc002jin.3_Missense_Mutation_p.I25V|KCNJ16_uc002jio.3_Missense_Mutation_p.I25V|KCNJ16_uc002jip.3_Missense_Mutation_p.I25V|KCNJ16_uc021uch.1_Missense_Mutation_p.I25V	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	25					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GCCAGAGCACATTATAGCTGA	0.453000														131			37		0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169327215	169327215	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169327215C>T	uc021xuh.1	-	22	3209	c.3099G>A	c.(3097-3099)gaG>gaA	p.E1033E	DDX60L_uc003irq.4_Silent_p.E1033E|DDX60L_uc003irr.1_Silent_p.E1033E|DDX60L_uc003irs.1_Silent_p.E728E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1033							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GAATGAATTCCTCTGGACACA	0.289000														21			8		0	0	1	0	0
TREX1	11277	broad.mit.edu	37	3	48508597	48508597	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48508597C>T	uc003ctj.3	+	1	1965	c.708C>T	c.(706-708)agC>agT	p.S236S	TREX1_uc010hjy.3_Silent_p.S181S|TREX1_uc010hjz.3_Silent_p.S181S|TREX1_uc003ctk.3_Silent_p.S42S|TREX1_uc010hka.3_Silent_p.S236S	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	236					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding	p.G235S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCTAGGCAGCATCTACACTC	0.612000														135			25		0	0	1	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890438	23890438	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23890438G>A	uc001ywj.4	-	0	2556	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGAGCATATGGCAGTGACTTT	0.562000														140			35		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554915	150554915	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150554915C>T	uc003why.1	+	2	5575	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	ABP1_uc003whz.1_Missense_Mutation_p.R453W|ABP1_uc003wia.1_Missense_Mutation_p.R453W	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	453					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTGGTGCTGCGGACAACTTC	0.517000														126			26		0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12491863	12491863	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12491863G>T	uc002mts.4	-	3	733	c.213C>A	c.(211-213)tcC>tcA	p.S71S				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	177	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AAGAATTGAAGGACTTCCTAC	0.398000														58			21		2.70639e-06	2.8733e-06	1	1	0
ABCF3	55324	broad.mit.edu	37	3	183911153	183911153	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183911153C>T	uc003fmz.2	+	20	2017	c.1884_splice	c.e20-1	p.C628_splice	ABCF3_uc003fna.2_Splice_Site_p.C622_splice|ABCF3_uc003fnb.2_Splice_Site_p.C309_splice	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	628	ABC transporter 2.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCCTTCCAGCCCCAACTTCT	0.522000														224			36		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12875277	12875277	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12875277G>T	uc003bxk.2	+	14	3556	c.3507G>T	c.(3505-3507)caG>caT	p.Q1169H	CAND2_uc003bxj.2_Missense_Mutation_p.Q1052H	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	1169					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGTGAAGCAGGAGTTTGAAA	0.547000														158			36		3.21399e-22	3.95801e-22	1	1	0
ARG2	384	broad.mit.edu	37	14	68113681	68113681	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68113681G>T	uc001xjs.3	+	5	777	c.661G>T	c.(661-663)Gat>Tat	p.D221Y		NM_001172	NP_001163	P78540	ARGI2_HUMAN	Homo sapiens arginase, type II (ARG2), nuclear gene encoding mitochondrial protein, mRNA.	221					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding	p.D221Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	TTCCATGAGAGATATTGATCG	0.353000														93			17		2.35188e-11	2.67805e-11	1	1	0
NALCN	259232	broad.mit.edu	37	13	101735213	101735213	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101735213T>C	uc001vox.1	-	32	3901	c.3712A>G	c.(3712-3714)Acc>Gcc	p.T1238A		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1238						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGGTACGGTCACCGGGTCC	0.522000														111			6		0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31202336	31202336	+	Silent	SNP	C	T	T	rs112061837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31202336C>T	uc002ebf.3	+	13	1551	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	FUS_uc002ebe.2_Silent_p.G478G|FUS_uc002ebg.3_Silent_p.G277G|FUS_uc002ebh.3_Silent_p.G481G	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	482	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		ATGATCGAGGCGGCTACCGGG	0.602000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""									249			49		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5777300	5777300	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5777300A>G	uc001iij.3	+	11	1863	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	413																	TTTGTACAGAAAACCAAATTG	0.408000														158			39		0	0	1	0	0
C6orf72	116254	broad.mit.edu	37	6	149901847	149901847	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149901847A>G	uc003qmq.1	+	5	728	c.705A>G	c.(703-705)ccA>ccG	p.P235P	C6orf72_uc010kie.1_Silent_p.P115P	NM_138785	NP_620140	Q9NU53	CF072_HUMAN	Homo sapiens chromosome 6 open reading frame 72 (C6orf72), mRNA.	235						integral to membrane				endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.66e-12)|GBM - Glioblastoma multiforme(68;0.171)		CAGAGCCGCCATCTTCATATA	0.393000														61			11		0	0	1	0	0
DRG2	1819	broad.mit.edu	37	17	18002358	18002358	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18002358G>A	uc002gsh.1	+	3	398	c.343G>A	c.(343-345)Gac>Aac	p.D115N	DRG2_uc010vxg.1_Missense_Mutation_p.D115N	NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	115	G.				signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					CCAGCTCCTGGACCTTCCTGG	0.547000														145			28		0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12784068	12784068	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12784068C>T	uc002mue.4	+	9	1081	c.736C>T	c.(736-738)Cgt>Tgt	p.R246C	WDR83_uc002muc.3_Non-coding_Transcript|WDR83_uc010dyw.3_Missense_Mutation_p.R246C	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	246					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm		p.R246C(2)		breast(2)|large_intestine(1)|lung(1)	4						CCTGAGCGAGCGTGACACACA	0.587000														122			33		0	0	1	0	0
RNF144B	255488	broad.mit.edu	37	6	18439941	18439941	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18439941G>A	uc003ncs.3	+	3	614	c.297G>A	c.(295-297)caG>caA	p.Q99Q		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	99					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			CTGTGGACCAGTTTCAACTTT	0.378000														70			10		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858390	38858390	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38858390C>A	uc002oih.4	+	24	2991	c.2904C>A	c.(2902-2904)atC>atA	p.I968I	CATSPERG_uc002oig.4_Silent_p.I928I|CATSPERG_uc002oif.4_Silent_p.I608I|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	968					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AGGACGAAATCTACCGCTTCA	0.592000														572			23		6.21321e-17	7.43302e-17	1	1	0
FAM175A	84142	broad.mit.edu	37	4	84391390	84391390	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84391390G>A	uc003hou.2	-	4	507	c.442C>T	c.(442-444)Cga>Tga	p.R148*	FAM175A_uc003hot.2_5'Flank|FAM175A_uc003hov.2_Nonsense_Mutation_p.R39*	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	148					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TGTTCCAGTCGATGAGTAGAG	0.348000														121			34		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64055662	64055662	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64055662C>T	uc010rni.2	+	5	961	c.933C>T	c.(931-933)taC>taT	p.Y311Y	GPR137_uc010rnj.2_Silent_p.Y253Y|GPR137_uc001nze.2_Silent_p.Y253Y|GPR137_uc001nzf.3_Intron|GPR137_uc001nzi.3_Silent_p.Y253Y|GPR137_uc021qkt.1_Silent_p.Y253Y	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	253						integral to membrane		p.L310V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CCTTCGATTACGACTGGTACA	0.637000														225			43		0	0	1	0	0
RNF20	56254	broad.mit.edu	37	9	104303164	104303164	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104303164G>A	uc004bbn.3	+	4	625	c.535G>A	c.(535-537)Gag>Aag	p.E179K		NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN	Homo sapiens ring finger protein 20 (RNF20), mRNA.	179					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GGAACGTGTGGAGTCTTCCCG	0.517000														110			19		0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8633478	8633478	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8633478T>G	uc002gln.3	-	6	1148	c.921A>C	c.(919-921)aaA>aaC	p.K307N	CCDC42_uc002glo.3_Missense_Mutation_p.K233N	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	307										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTTCCTTCTTTTTCACCTCTG	0.542000														72			20		0	0	1	0	0
ZNF37A	7587	broad.mit.edu	37	10	38406336	38406336	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38406336G>T	uc001izk.3	+	7	1087	c.257G>T	c.(256-258)aGa>aTa	p.R86I	ZNF37A_uc001izl.3_Missense_Mutation_p.R86I|ZNF37A_uc001izm.3_Missense_Mutation_p.R86I	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	86						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R86I(3)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AATACCAGTAGAAACTATTCA	0.308000														66			17		0.00498961	0.00506793	1	1	0
AP1G2	8906	broad.mit.edu	37	14	24033058	24033058	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24033058G>T	uc001wkl.2	-	11	1436	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	AP1G2_uc001wkk.3_Missense_Mutation_p.L295M|AP1G2_uc001wkn.2_5'UTR|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Non-coding_Transcript|AP1G2_uc010tnp.1_Missense_Mutation_p.L367M	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	367					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTTAGTTCCAGGGCTCTCCTG	0.592000														106			14		9.05144e-12	1.03561e-11	1	1	0
LPIN2	9663	broad.mit.edu	37	18	2920375	2920375	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2920375A>G	uc002klo.3	-	19	2846	c.2607T>C	c.(2605-2607)aaT>aaC	p.N869N		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	869					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAAAAGCGGAATTCTGCTCCT	0.557000														104			7		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46608739	46608739	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46608739G>A	uc002ruv.3	+	12	2560	c.2050G>A	c.(2050-2052)Gca>Aca	p.A684T	EPAS1_uc002ruw.3_Missense_Mutation_p.A150T	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	684					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TGGCAGGTCTGCAAAGGGTTT	0.582000														108			40		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1052541	1052541	+	Silent	SNP	G	A	A	rs138980870		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052541G>A	uc003jbu.3	-	23	3252	c.3186C>T	c.(3184-3186)acC>acT	p.T1062T		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	1062					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCAGCCCCTCGGTCAGGACTT	0.552000														212			13		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219498467	219498467	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219498467G>A	uc021vwx.1	+	10	1928	c.1589G>A	c.(1588-1590)cGc>cAc	p.R530H	PLCD4_uc010zkk.1_Missense_Mutation_p.R80H	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	530	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AAGGCCAAGCGCCTCATCAAG	0.498000														44			20		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37232786	37232786	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37232786C>T	uc002rpp.1	-	29	4990	c.4894G>A	c.(4894-4896)Gca>Aca	p.A1632T	HEATR5B_uc010ezy.1_Missense_Mutation_p.A216T	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1632							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGATCTTCTGCAATATGGACT	0.403000														114			27		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105221	14105221	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105221C>T	uc001avi.3	+	7	1787	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.R311W|PRDM2_uc021ogk.1_Missense_Mutation_p.R74W|PRDM2_uc001avk.3_Missense_Mutation_p.R110W|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	311	Retinoblastoma protein binding.			EPEIRCDEKPED -> SQKYGVMRSQKI (in Ref. 4; AAA87023).		Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCCAGAAATACGGTGTGATGA	0.423000														90			29		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18647799	18647799	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18647799A>C	uc002gul.3	+	0	474	c.242A>C	c.(241-243)cAg>cCg	p.Q81P	FBXW10_uc002guj.3_Missense_Mutation_p.Q81P|FBXW10_uc002guk.3_Missense_Mutation_p.Q81P|FBXW10_uc010cqh.2_Missense_Mutation_p.Q81P	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	81										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CAGACCACACAGGGAAAGGAT	0.388000														195			22		0	0	1	0	0
XRN2	22803	broad.mit.edu	37	20	21314400	21314400	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21314400G>T	uc002wsf.1	+	10	1087	c.992G>T	c.(991-993)aGc>aTc	p.S331I	XRN2_uc002wsg.1_Missense_Mutation_p.S255I|XRN2_uc010zsk.1_Missense_Mutation_p.S277I	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	331					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTTGAGAGGAGCATTGATGAC	0.418000														350			67		5.10652e-33	6.4505e-33	1	1	0
RELN	5649	broad.mit.edu	37	7	103138584	103138584	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103138584T>C	uc022ajr.1	-	53	8943	c.8783A>G	c.(8782-8784)tAt>tGt	p.Y2928C	RELN_uc022ajq.1_Missense_Mutation_p.Y2928C|RELN_uc010liz.3_Missense_Mutation_p.Y2928C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2928					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCCCCAAAATAGAGTGCAGT	0.423000														129			34		0	0	1	0	0
TOPBP1	11073	broad.mit.edu	37	3	133320197	133320197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133320197G>A	uc003eps.3	-	27	4598	c.4466C>T	c.(4465-4467)gCt>gTt	p.A1489V		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	1489					DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AAATGAAATAGCTTCTGGTAG	0.313000								Other conserved DNA damage response genes						10			4		0	0	1	0	0
KDELR3	11015	broad.mit.edu	37	22	38877488	38877488	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38877488G>T	uc003avu.3	+	3	779	c.623G>T	c.(622-624)aGc>aTc	p.S208I	KDELR3_uc003avv.3_Intron	NM_016657	NP_057839	O43731	ERD23_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3 (KDELR3), transcript variant 2, mRNA.	0					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					TGGGATGACAGCAATGCTGAC	0.433000														121			28		1.74807e-11	1.99175e-11	1	1	0
HNRNPA0	10949	broad.mit.edu	37	5	137089345	137089345	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137089345C>A	uc003lbt.3	-	0	695	c.411G>T	c.(409-411)aaG>aaT	p.K137N	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	137	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCACGCTTCTTGCCGGACT	0.577000														125			36		4.65686e-17	5.57603e-17	1	1	0
LRRC8D	55144	broad.mit.edu	37	1	90400677	90400677	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90400677C>T	uc021opq.1	+	0	2050	c.2050C>T	c.(2050-2052)Cga>Tga	p.R684*	LRRC8D_uc001dnm.3_Nonsense_Mutation_p.R684*|LRRC8D_uc001dnn.3_Nonsense_Mutation_p.R684*	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	684						integral to membrane	protein binding	p.R684*(2)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCATTTAAAACGACTGACTTG	0.343000														99			11		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72128969	72128969	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72128969G>A	uc003xyu.3	-	13	1958	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	EYA1_uc003xyt.4_Missense_Mutation_p.R407W|EYA1_uc003xyr.4_Missense_Mutation_p.R405W|EYA1_uc010lzf.3_Missense_Mutation_p.R367W|EYA1_uc003xys.4_Missense_Mutation_p.R440W|EYA1_uc011lfe.2_Missense_Mutation_p.R434W|EYA1_uc003xyv.3_Missense_Mutation_p.R318W	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	440			R -> Q (in BOR1).		double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCTTTTACCCGTCTGTAGCGG	0.463000														115			28		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1525021	1525021	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525021C>T	uc003skn.2	-	22	3162	c.3061G>A	c.(3061-3063)Gat>Aat	p.D1021N	INTS1_uc003skp.1_Missense_Mutation_p.D368N	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1021					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGCACATCTGTGTCCCCC	0.657000														161			26		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160909	132160909	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160909T>C	uc003kxx.3	-	3	1729	c.924A>G	c.(922-924)tcA>tcG	p.S308S	SHROOM1_uc003kxy.2_Silent_p.S308S	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	308					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	p.S308L(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGACTTCGCCTGAAGCGCTCC	0.617000														70			23		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57969516	57969516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57969516G>A	uc001sor.1	+	16	2207	c.1999G>A	c.(1999-2001)Gag>Aag	p.E667K	KIF5A_uc010srr.1_Missense_Mutation_p.E578K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	667					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.D666N(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTTGAGCGATGAGCTGGCCAA	0.527000														339			75		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121459973	121459973	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121459973G>T	uc001pxx.3	+	28	4081	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y	SORL1_uc010rzp.1_Missense_Mutation_p.D164Y|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1318					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TGTAGCCCAAGATCCTGAGTT	0.517000														383			30		8.53417e-09	9.39779e-09	1	1	0
GPR56	9289	broad.mit.edu	37	16	57689823	57689823	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57689823C>T	uc002emb.2	+	7	1228	c.936C>T	c.(934-936)gtC>gtT	p.V312V	GPR56_uc002elz.1_Silent_p.V142V|GPR56_uc002ema.1_Silent_p.V137V|GPR56_uc002emc.2_Silent_p.V312V|GPR56_uc002emf.2_Silent_p.V312V|GPR56_uc010vhs.1_Silent_p.V312V|GPR56_uc002emd.2_Silent_p.V312V|GPR56_uc002eme.2_Silent_p.V312V|GPR56_uc010vht.1_Silent_p.V317V|GPR56_uc002emg.3_Silent_p.V312V|GPR56_uc010vhu.1_Silent_p.V137V	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	312					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GTGAGAAGGTCTTGGGGATTG	0.562000														274			63		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54586236	54586236	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54586236G>A	uc021smr.1	+	8	3956	c.3956G>A	c.(3955-3957)gGa>gAa	p.G1319E	UNC13C_uc021sms.1_Missense_Mutation_p.G1321E|UNC13C_uc002acl.3_Missense_Mutation_p.G151E	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1321					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACCTTGAGTGGAGAAATGGAT	0.353000														145			24		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128001525	128001525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128001525C>T	uc004bpn.3	-	4	952	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	231					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	p.F230F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGAGACACATCGAAGGTTCCG	0.488000										Prostate(1;0.17)				64			13		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12274332	12274332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12274332G>A	uc001rah.4	-	22	4712	c.4570C>T	c.(4570-4572)Cac>Tac	p.H1524Y	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H1479Y	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1524					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTGCAAAGTGCCGGTAGCTA	0.458000														221			37		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180038401	180038401	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180038401C>T	uc003mlz.4	-	26	3695	c.3616G>A	c.(3616-3618)Gcc>Acc	p.A1206T	FLT4_uc003mma.4_Missense_Mutation_p.A1206T	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1206					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTGTAGGGCCATGGTGGAC	0.667000														308			31		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7682790	7682790	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7682790C>T	uc021pmv.1	-	3	434	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	ITIH5_uc001ijr.2_Missense_Mutation_p.E110K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	110	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTGTAATTTCGCCCTGATAC	0.373000														147			17		0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106236586	106236586	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106236586G>T	uc004emu.4	-	2	457	c.182C>A	c.(181-183)gCt>gAt	p.A61D	MORC4_uc004emp.4_5'UTR|MORC4_uc004emv.4_Missense_Mutation_p.A61D|MORC4_uc004emw.4_5'UTR	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	61							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TGGATCTACAGCATTATCTGC	0.393000														69			16		1.67942e-08	1.84125e-08	1	1	0
ENDOV	284131	broad.mit.edu	37	17	78398856	78398856	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78398856G>A	uc021ueo.1	+	5	569	c.541G>A	c.(541-543)Gac>Aac	p.D181N	ENDOV_uc002jyk.3_Missense_Mutation_p.D136N|ENDOV_uc002jyl.2_Missense_Mutation_p.D136N|ENDOV_uc021uep.1_Non-coding_Transcript|ENDOV_uc021ueq.1_Non-coding_Transcript|ENDOV_uc021uer.1_Non-coding_Transcript|ENDOV_uc021ues.1_Non-coding_Transcript	NM_173627	NP_775898	Q8N8Q3	ENDOV_HUMAN	Homo sapiens endonuclease V (ENDOV), transcript variant 1, mRNA.	181					DNA repair		endodeoxyribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding			endometrium(1)|lung(1)|pancreas(1)|prostate(1)	4						GACTCGAGGAGACTCATTCCC	0.537000								Direct reversal of damage						34			8		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553699	106553699	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106553699A>G	uc003prd.2	+	4	1898	c.1664A>G	c.(1663-1665)aAc>aGc	p.N555S	PRDM1_uc003pre.3_Missense_Mutation_p.N421S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	555					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AACAAAAGAAACATGACCGGC	0.547000			"""D, N, Mis, F, S"""		DLBCL									155			27		0	0	1	0	0
ZNF254	9534	broad.mit.edu	37	19	24289407	24289407	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24289407G>A	uc002nru.3	+	2	349	c.215G>A	c.(214-216)tGg>tAg	p.W72*	ZNF254_uc010xrk.2_Intron|ZNF254_uc002nrt.1_Non-coding_Transcript	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	72	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAAGAGCCCTGGAATATGAAG	0.423000														174			19		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17190264	17190264	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17190264C>T	uc001mmq.4	-	0	1090	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Intron|PIK3C2A_uc001mmr.3_Non-coding_Transcript|PIK3C2A_uc010rcx.1_Missense_Mutation_p.R342Q|PIK3C2A_uc009ygv.1_Missense_Mutation_p.R342Q	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	342					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTGAGTTGTTCGAATATTTAA	0.373000														163			11		0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83900687	83900687	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83900687C>A	uc011dyz.2	-	2	298	c.129G>T	c.(127-129)aaG>aaT	p.K43N	PGM3_uc003pju.2_Missense_Mutation_p.K15N|PGM3_uc003pjw.3_Intron|PGM3_uc021zcd.1_Missense_Mutation_p.K15N|RWDD2A_uc003pjx.4_5'Flank|RWDD2A_uc011dza.2_5'Flank	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	15					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTCCATTGGGCTTGGCGTGTA	0.393000														129			24		5.35356e-11	6.06456e-11	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31822993	31822993	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31822993G>T	uc001zfq.3	-	3	662	c.569C>A	c.(568-570)tCc>tAc	p.S190Y	OTUD7A_uc001zfr.3_Missense_Mutation_p.S190Y	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	190	Catalytic (By similarity).|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GCACACAGTGGACCACCAGTT	0.527000														106			7		1.26484e-09	1.4081e-09	1	1	0
LEMD2	221496	broad.mit.edu	37	6	33744826	33744826	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744826G>T	uc011drm.2	-	7	1279	c.1266C>A	c.(1264-1266)gtC>gtA	p.V422V	LEMD2_uc010jvg.3_Silent_p.V131V|LEMD2_uc011drl.2_Silent_p.V120V	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	422						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						AATGGTCCTGGACCACGTCTG	0.582000														169			15		3.27435e-08	3.57295e-08	1	1	0
SMPDL3A	10924	broad.mit.edu	37	6	123127404	123127404	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123127404G>A	uc003pzg.3	+	6	1467	c.946G>A	c.(946-948)Gct>Act	p.A316T	SMPDL3A_uc003pzh.3_Missense_Mutation_p.A185T	NM_006714	NP_006705	Q92484	ASM3A_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3A (SMPDL3A), mRNA.	316					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		TTTGTTTGTGGCTCCTGCTGT	0.318000														62			15		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890184	55890184	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890184T>C	uc001nii.1	+	0	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CTGCTGAATGTTATCTTCTCT	0.458000														416			84		0	0	1	0	0
DECR1	1666	broad.mit.edu	37	8	91033242	91033242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91033242G>A	uc003yek.1	+	4	664	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	DECR1_uc011lgc.1_Missense_Mutation_p.V166M|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	175					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CACAGCCTTCGTGACACTAGA	0.363000														53			7		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6943388	6943388	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6943388A>G	uc002knm.3	-	61	8952	c.8858T>C	c.(8857-8859)gTc>gCc	p.V2953A	LAMA1_uc002knk.3_Missense_Mutation_p.V283A|LAMA1_uc002knl.3_Missense_Mutation_p.V406A|LAMA1_uc010wzj.2_Missense_Mutation_p.V2429A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2953	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCATTGTTGACATGGAACAA	0.408000														126			27		0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000992	142000992	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142000992C>T	uc011kro.1	+	1	129	c.84C>T	c.(82-84)agC>agT	p.S28S	TRBV2_uc022amx.1_Non-coding_Transcript|TRBV2_uc022amy.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		AGACTCCCAGCCATCAGGTCA	0.428000														38			9		0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45789167	45789167	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45789167A>G	uc010gpt.1	+	4	812	c.712A>G	c.(712-714)Acc>Gcc	p.T238A	TRPM2_uc002zet.1_Missense_Mutation_p.T238A|TRPM2_uc002zeu.1_Missense_Mutation_p.T238A|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T238A|TRPM2_uc002zex.1_Missense_Mutation_p.T24A	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	238						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGAGCTCATCACCATCGGAGT	0.667000														87			16		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305786	43305786	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305786C>T	uc003oux.3	-	9	6028	c.5950G>A	c.(5950-5952)Gat>Aat	p.D1984N	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1984					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGATGGACATCTTGTAGCTCC	0.453000														143			30		0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197566213G>A	uc011bul.1	+	9	1278	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_uc003fyj.1_Missense_Mutation_p.A425T|LRCH3_uc011bum.1_Missense_Mutation_p.A397T|LRCH3_uc011bun.1_Missense_Mutation_p.A271T|LRCH3_uc003fyk.2_Missense_Mutation_p.A20T	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	425						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAAGCCAGTAGCCATTAGGGA	0.333000														46			11		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99053094	99053094	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99053094G>A	uc001tfz.3	+	4	1260	c.683G>A	c.(682-684)cGc>cAc	p.R228H	APAF1_uc001tfy.3_Missense_Mutation_p.R217H|APAF1_uc001tga.3_Missense_Mutation_p.R217H|APAF1_uc001tgb.3_Missense_Mutation_p.R228H|APAF1_uc001tgc.3_Missense_Mutation_p.R228H	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	228	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding	p.R228C(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	GACCGTCTCCGCATTCTGATG	0.453000														142			19		0	0	1	0	0
INA	9118	broad.mit.edu	37	10	105037253	105037253	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105037253G>T	uc001kws.3	+	0	334	c.285G>T	c.(283-285)aaG>aaT	p.K95N	BC040734_uc001kwr.3_5'Flank|INA_uc009xxj.3_Missense_Mutation_p.K95N	NM_032727	NP_116116	Q16352	AINX_HUMAN	Homo sapiens internexin neuronal intermediate filament protein, alpha (INA), mRNA.	95	Coil 1A.|Rod.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCAACGAGAAGGAGCAGCTGC	0.687000														91			17		6.94344e-10	7.75807e-10	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67054530	67054530	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67054530G>T	uc003dmy.3	+	2	1192	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	380								p.R379K(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CTTCGAGCCAGAATAGGCTGC	0.433000														162			43		2.59497e-14	3.04725e-14	1	1	0
CUL1	8454	broad.mit.edu	37	7	148454093	148454093	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148454093G>A	uc010lpg.3	+	3	860	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CUL1_uc003wey.3_Missense_Mutation_p.D112N|CUL1_uc003wez.3_Missense_Mutation_p.D2N	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	112					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			AGATTTGATGGATGAGAGTGT	0.328000														102			16		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067069	62067069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62067069G>A	uc002sbm.4	-	2	1172	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	FAM161A_uc002sbn.4_Missense_Mutation_p.A167V|FAM161A_uc010ypo.2_Missense_Mutation_p.A357V|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.A248V	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	357					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGGTCTGGCTTTAAATCG	0.418000														195			17		0	0	1	0	0
GJA4	2701	broad.mit.edu	37	1	35259805	35259805	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35259805C>A	uc009vul.3	+	1	243	c.219C>A	c.(217-219)ggC>ggA	p.G73G	GJA4_uc001bya.3_5'UTR|GJA4_uc009vum.1_5'UTR|GJA4_uc021olb.1_5'Flank	NM_002060	NP_002051	P35212	CXA4_HUMAN	Homo sapiens gap junction protein, alpha 4, 37kDa (GJA4), mRNA.	0					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGACGGAGGCCCGGGAGCCA	0.617000														52			17		6.94344e-10	7.75807e-10	1	1	0
SUV420H1	51111	broad.mit.edu	37	11	67925463	67925463	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925463C>A	uc001onm.1	-	10	2606	c.2350G>T	c.(2350-2352)Gat>Tat	p.D784Y	SUV420H1_uc009yse.1_Missense_Mutation_p.D370Y|SUV420H1_uc001onn.1_Missense_Mutation_p.D612Y|SUV420H1_uc009ysf.2_Missense_Mutation_p.D544Y	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTTCCTCATCTCGTTTTAGC	0.413000														313			22		1.36565e-18	1.65157e-18	1	1	0
PKMYT1	9088	broad.mit.edu	37	16	3022958	3022958	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3022958G>A	uc002csn.3	-	8	2005	c.1496C>T	c.(1495-1497)aCc>aTc	p.T499I	PAQR4_uc002csj.4_3'UTR|PAQR4_uc002csk.4_3'UTR|PAQR4_uc002csl.4_3'UTR|PAQR4_uc010uwm.2_3'UTR|PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_3'UTR|PKMYT1_uc002cso.3_Missense_Mutation_p.T430I|PKMYT1_uc002csq.3_Missense_Mutation_p.T490I	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	499	Interaction with CDC2-CCNB1.|Interaction with PIN1.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGGGGCTCAGGTTGGGTCTAG	0.577000														14			4		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57599572	57599572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57599572G>A	uc002yak.3	+	3	1359	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GCTGAGCATGGCCGCCACCTT	0.547000														84			24		0	0	1	0	0
GPR3	2827	broad.mit.edu	37	1	27721074	27721074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27721074G>A	uc001bod.3	+	1	867	c.772G>A	c.(772-774)Gcc>Acc	p.A258T	GPR3_uc021ojv.1_Missense_Mutation_p.A258T	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	258					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		AGCCTTTGCCGCCTGCTGGTT	0.607000														138			27		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979372	979372	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:979372C>T	uc001ack.2	+	9	2018	c.1968C>T	c.(1966-1968)atC>atT	p.I656I		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	656	Kazal-like 7.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGACACAGATCGAGGAGGCCC	0.697000														62			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474553	179474553	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474553T>C	uc021vsy.1	-	220	44118	c.43893A>G	c.(43891-43893)gaA>gaG	p.E14631E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E8326E|TTN_uc021vta.1_Silent_p.E8259E|TTN_uc021vtb.1_Silent_p.E8134E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15558	Ig-like 96.						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)			GTACCAGGTGTTCATTGCATC	0.468000														594			62		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174937166	174937166	+	Silent	SNP	C	T	T	rs146805862		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174937166C>T	uc003mda.2	+	3	528	c.390C>T	c.(388-390)gtC>gtT	p.V130V	SFXN1_uc003mdb.1_Silent_p.V69V	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	130					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCAATGCCGTCGTCAATTACA	0.502000														42			11		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39448647	39448647	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39448647C>T	uc001uwv.3	+	17	8514	c.8205C>T	c.(8203-8205)atC>atT	p.I2735I		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2735					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R2734C(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCATGCGCATCGGTGATGAGG	0.473000														147			30		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140729348	140729348	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140729348G>A	uc011mfc.2	+	26	3877	c.3840G>A	c.(3838-3840)gaG>gaA	p.E1280E	EHMT1_uc004coe.3_Silent_p.E185E	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1280					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGGCCCAGGAGGCCCAGGAGG	0.756000														56			8		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109577565	109577565	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109577565G>A	uc001tob.3	+	1	474	c.355G>A	c.(355-357)Ggg>Agg	p.G119R	ACACB_uc001toc.3_Missense_Mutation_p.G119R	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	119					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCAAGCCAACGGGACTGGGAC	0.622000														406			86		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65461485	65461485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65461485G>A	uc001ssk.3	-	4	999	c.624C>T	c.(622-624)caC>caT	p.H208H		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	208	EGF-like 1.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTTCTCACAGTGAGGTCCGT	0.507000			T	HMGA2	pleomorphic salivary gland adenoma									64			17		0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38006201	38006201	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38006201C>A	uc001cbi.3	-	2	556	c.483G>T	c.(481-483)caG>caT	p.Q161H	SNIP1_uc010oid.2_Intron	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	161	Arg-rich.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding	p.G160R(1)		breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GTCCCTGACCCTGCCCACTCC	0.587000														246			69		9.64103e-21	1.17973e-20	1	1	0
FKBP5	2289	broad.mit.edu	37	6	35587999	35587999	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35587999C>T	uc011dte.1	-	3	506	c.303G>A	c.(301-303)gaG>gaA	p.E101E	FKBP5_uc003okx.2_Silent_p.E101E|FKBP5_uc011dtf.1_Intron|FKBP5_uc003oky.2_Silent_p.E101E|FKBP5_uc003okz.2_Silent_p.E101E	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	101	PPIase FKBP-type 1.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATGGCATATCTCTCCTTTCT	0.433000														108			24		0	0	1	0	0
SIAH2	6478	broad.mit.edu	37	3	150460414	150460414	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150460414G>A	uc003eyi.3	-	1	1116	c.489C>T	c.(487-489)taC>taT	p.Y163Y		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	163	SBD.				apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGTAGGGACGGTATTCACATA	0.527000														98			28		0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128680721	128680721	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128680721C>T	uc010sbu.2	+	8	1540	c.1197C>T	c.(1195-1197)aaC>aaT	p.N399N	FLI1_uc010sbt.2_Silent_p.N206N|FLI1_uc010sbv.2_Silent_p.N366N|FLI1_uc009zci.3_Silent_p.N333N	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	399					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AGAAGGTGAACTTTGTCCCTC	0.572000			T	EWSR1	Ewing sarcoma									101			8		0	0	1	0	0
HNRNPR	10236	broad.mit.edu	37	1	23650226	23650226	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23650226C>A	uc001bgr.4	-	6	658	c.499_splice	c.e6-1	p.V167_splice	HNRNPR_uc010odw.2_Splice_Site_p.V129_splice|HNRNPR_uc009vql.3_Splice_Site_p.V28_splice|HNRNPR_uc001bgp.4_Splice_Site_p.V167_splice|HNRNPR_uc001bgs.4_Splice_Site_p.V66_splice|HNRNPR_uc009vqk.3_Splice_Site_p.V66_splice|HNRNPR_uc010odx.2_Intron	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	167	RRM 1.					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)		CTACAAATACCTGAAATAAAA	0.398000														87			12		1.08611e-07	1.17606e-07	1	1	0
APCDD1	147495	broad.mit.edu	37	18	10471563	10471563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:10471563G>A	uc002kom.4	+	2	633	c.279G>A	c.(277-279)agG>agA	p.R93R		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	93					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TCATCACAAGGTCCTACAGAT	0.458000														107			20		0	0	1	0	0
EIF5B	9669	broad.mit.edu	37	2	99980843	99980843	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99980843G>T	uc002tab.3	+	5	1431	c.1247G>T	c.(1246-1248)aGa>aTa	p.R416I		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	416					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGAAGCCAGAGCCAGAGCC	0.398000														162			26		9.90768e-06	1.04397e-05	1	1	0
PLXNB3	5365	broad.mit.edu	37	X	153037356	153037356	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153037356C>T	uc010nuk.2	+	15	2895	c.2624C>T	c.(2623-2625)gCc>gTc	p.A875V	PLXNB3_uc011mzb.1_3'UTR|PLXNB3_uc011mzc.2_Missense_Mutation_p.A534V|PLXNB3_uc004fii.2_Missense_Mutation_p.A852V|PLXNB3_uc011mzd.1_Missense_Mutation_p.A491V|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	852	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	p.S875N(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCTTGGCCCTCACCATC	0.687000														67			11		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95813533	95813533	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95813533C>T	uc001vmd.4	-	18	2484	c.2365G>A	c.(2365-2367)Gtc>Atc	p.V789I	ABCC4_uc010afk.3_Missense_Mutation_p.V742I|ABCC4_uc001vme.2_Missense_Mutation_p.V789I|ABCC4_uc010tih.1_Missense_Mutation_p.V714I	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	789	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TTAACAAGGACGTAGAATACC	0.353000														55			8		0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120182956	120182956	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182956G>A	uc004eto.3	+	0	1495	c.1418G>A	c.(1417-1419)aGt>aAt	p.S473N		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	473					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding	p.E472Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GTTCAAGAGAGTTTAGAAAGA	0.418000														145			49		0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13246249	13246249	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246249G>T	uc002mwm.3	+	1	396	c.228G>T	c.(226-228)caG>caT	p.Q76H		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	76	BTB.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGCAGCCCCAGTCTTTCCAGC	0.647000														137			41		2.35958e-20	2.88004e-20	1	1	0
NOC2L	26155	broad.mit.edu	37	1	892589	892589	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892589C>T	uc009vjq.3	-	2	303	c.244G>A	c.(244-246)Gag>Aag	p.E82K	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Missense_Mutation_p.E82K	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	82						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TTGTAGAACTCGGGGTCTCTG	0.592000														134			36		0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249838	3249838	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249838G>A	uc021qcj.1	-	0	189	c.189C>T	c.(187-189)gaC>gaT	p.D63D	MRGPRE_uc001lxq.4_Silent_p.D63D	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	63						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCAGGCCACGTCCAGGAGGT	0.647000														224			56		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5069022	5069022	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5069022C>T	uc010mhm.3	+	10	1440	c.1327_splice	c.e10-1	p.R443_splice	JAK2_uc003ziw.3_Splice_Site_p.R443_splice	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	443	SH2; atypical.	Breakpoint for translocation to form PCM1-JAK2 fusion protein.			JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ACTTATACAGCGAGAAAATGT	0.328000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					37			8		0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87195518	87195518	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87195518A>C	uc003uiz.2	-	7	1063	c.570T>G	c.(568-570)atT>atG	p.I190M	ABCB1_uc011khc.2_Missense_Mutation_p.I126M	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	190	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGAACATTCCAATTTTGTCAC	0.368000														107			18		0	0	1	0	0
AKAP7	9465	broad.mit.edu	37	6	131486247	131486247	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131486247G>T	uc003qck.3	+	3	396	c.252G>T	c.(250-252)caG>caT	p.Q84H		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGATCCTGCAGAATGCAATAA	0.323000														38			4		0.000602214	0.000618135	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35425705	35425705	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35425705G>A	uc003xjr.2	+	2	740	c.412G>A	c.(412-414)Gcg>Acg	p.A138T	UNC5D_uc003xjs.2_Missense_Mutation_p.A133T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	138	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCAGTGTGTGGCGTGGAGCCA	0.542000														208			42		0	0	1	0	0
SRI	6717	broad.mit.edu	37	7	87838718	87838718	+	Silent	SNP	G	A	A	rs150714131	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87838718G>A	uc010lej.1	-	5	499	c.447C>T	c.(445-447)agC>agT	p.S149S	SRI_uc003ujq.1_Silent_p.S149S|SRI_uc011khg.1_Silent_p.S109S|SRI_uc003ujr.1_Silent_p.S134S|SRI_uc011khh.1_Silent_p.S134S	NM_003130	NP_003121	P30626	SORCN_HUMAN	Homo sapiens sorcin (SRI), transcript variant 1, mRNA.	149	EF-hand 4.				heart development|intracellular sequestering of iron ion|muscle organ development|regulation of action potential|regulation of heart contraction|regulation of striated muscle contraction|signal transduction	sarcoplasmic reticulum membrane	calcium channel regulator activity|calcium ion binding|receptor binding			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(14;0.00202)					TTCCATTGGTGCTGTATCGTT	0.448000														93			23		0	0	1	0	0
AKAP10	11216	broad.mit.edu	37	17	19866323	19866323	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19866323A>G	uc002gwo.3	-	2	286	c.149T>C	c.(148-150)gTa>gCa	p.V50A	AKAP10_uc002gwp.1_Missense_Mutation_p.V50A|AKAP10_uc010cqw.1_Missense_Mutation_p.V50A|AKAP10_uc010vze.1_Intron	NM_007202	NP_009133	O43572	AKA10_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA.	50					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TGGGGAATGTACGGATATTGA	0.358000														150			14		0	0	1	0	0
SNAP23	8773	broad.mit.edu	37	15	42822003	42822003	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42822003C>T	uc001zpz.2	+	6	978	c.556C>T	c.(556-558)Cga>Tga	p.R186*	SNAP23_uc001zqa.2_Nonsense_Mutation_p.R133*	NM_003825	NP_003816	O00161	SNP23_HUMAN	Homo sapiens synaptosomal-associated protein, 23kDa (SNAP23), transcript variant 1, mRNA.	186	t-SNARE coiled-coil homology 2.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	Golgi apparatus|azurophil granule|cell junction|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		ACAAATAAAACGAATCACAGA	0.418000														101			14		0	0	1	0	0
LOC401010	401010	broad.mit.edu	37	2	132200422	132200422	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132200422A>G	uc002tst.2	-	0	2046	c.1580T>C	c.(1579-1581)tTc>tCc	p.F527S						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		TCTTTCCAAGAATCCCTCGGT	0.552000														49			9		0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6442635	6442635	+	Missense_Mutation	SNP	C	T	T	rs104895278		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6442635C>T	uc001qnu.3	-	3	673	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.V16M|TNFRSF1A_uc010sey.2_Intron|TNFRSF1A_uc010sez.2_Missense_Mutation_p.V16M|TNFRSF1A_uc009zek.3_Missense_Mutation_p.V81M|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.V124M	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	124					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CAGCCACACACGGTGTCCCGG	0.547000														58			14		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185969264	185969264	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185969264C>T	uc001grq.1	+	25	4191	c.3962C>T	c.(3961-3963)aCa>aTa	p.T1321I		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1321	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGATGGCACATTGCTGGTT	0.418000														83			24		0	0	1	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66307147	66307147	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66307147G>T	uc001oin.1	-	2	905	c.708C>A	c.(706-708)tcC>tcA	p.S236S	ZDHHC24_uc009yrg.2_Intron	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN	Homo sapiens zinc finger, DHHC-type containing 24 (ZDHHC24), mRNA.	236						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						CCAGGTCATAGGAGTGCTGGC	0.711000														55			18		1.99824e-07	2.15697e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55582479G>T	uc010qhy.1	-	34	5423	c.5028C>A	c.(5026-5028)ttC>ttA	p.F1676L	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.F1671L|PCDH15_uc021pqz.1_Missense_Mutation_p.F1646L|PCDH15_uc010qhv.1_Missense_Mutation_p.F1666L|PCDH15_uc010qhw.1_Missense_Mutation_p.F1629L|PCDH15_uc010qhx.1_Missense_Mutation_p.F1600L|PCDH15_uc010qhz.1_Missense_Mutation_p.F1671L|PCDH15_uc010qia.1_Missense_Mutation_p.F1649L|PCDH15_uc001jju.1_Missense_Mutation_p.F1669L|PCDH15_uc010qib.1_Missense_Mutation_p.F1646L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1669					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGGAGAATGAGAAGTGAGGCC	0.418000										HNSCC(58;0.16)				135			23		1.10923e-09	1.2355e-09	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206166414	206166414	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206166414C>T	uc002var.2	+	17	2826	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	PARD3B_uc010fub.2_Silent_p.G873G|PARD3B_uc002vao.2_Silent_p.G873G|PARD3B_uc002vap.2_Silent_p.G811G|PARD3B_uc002vaq.2_Silent_p.G804G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	873	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		aggGCTTCGGCGCCATGCTGA	0.433000														87			23		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37385817	37385817	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37385817C>T	uc001zjr.3	-	5	1678	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	MEIS2_uc001zjl.3_Missense_Mutation_p.E189K|MEIS2_uc010ucj.2_Missense_Mutation_p.E189K|MEIS2_uc001zjm.3_Missense_Mutation_p.E114K|MEIS2_uc001zjn.3_Missense_Mutation_p.E56K|MEIS2_uc001zjo.3_Missense_Mutation_p.E202K|MEIS2_uc001zjp.3_Missense_Mutation_p.E202K|MEIS2_uc001zjs.3_Missense_Mutation_p.E202K|MEIS2_uc001zju.3_Missense_Mutation_p.E189K|MEIS2_uc001zjt.3_Missense_Mutation_p.E202K	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	202	Ser/Thr-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CCTGAAAGTTCTTCATGATCT	0.448000														120			19		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912529	32912529	+	Missense_Mutation	SNP	C	A	A	rs80359421		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32912529C>A	uc001uub.1	+	10	4264	c.4037C>A	c.(4036-4038)aCt>aAt	p.T1346N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1346					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)		AAAAATGATACTGTTTGTATT	0.328000			"""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)				44			15		3.45872e-05	3.61362e-05	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61600360	61600360	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61600360G>T	uc010xev.2	+	6	802	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	SERPINB2_uc010xew.2_Missense_Mutation_p.G238C	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	253					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)	AAAAGCAGTGGGCCTTCAACT	0.378000														137			43		3.43241e-23	4.24696e-23	1	1	0
YTHDF1	54915	broad.mit.edu	37	20	61834989	61834989	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61834989G>A	uc002yeh.3	-	3	597	c.303C>T	c.(301-303)caC>caT	p.H101H	YTHDF1_uc011aaq.2_Silent_p.H51H	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	101										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AAACAGCATCGTGCATAAAAT	0.532000														132			33		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	410353	410353	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410353G>A	uc001ifp.3	-	19	2528	c.2438C>T	c.(2437-2439)gCg>gTg	p.A813V	DIP2C_uc009xhi.1_Missense_Mutation_p.A199V|DIP2C_uc010pzz.1_Missense_Mutation_p.A134V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	813						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TACGGCCAGCGCAGTGGCCAC	0.577000														191			38		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78947380	78947380	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78947380C>A	uc004akc.2	+	32	5059	c.4521C>A	c.(4519-4521)ggC>ggA	p.G1507G		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	677					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						GCCCAGAGGGCTATTATGCCG	0.542000														78			14		0.00316338	0.00321995	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140724569	140724569	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724569T>C	uc003ljm.2	+	0	969	c.969T>C	c.(967-969)gaT>gaC	p.D323D	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.D323D	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	324	Cadherin 3.				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)			AAGCACAGGATGGACCAGGTC	0.388000														111			26		0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72110289	72110289	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72110289C>T	uc002fby.3	+	4	386	c.356C>T	c.(355-357)gCt>gTt	p.A119V	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	119	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CCCTGGCAGGCTAAGATGGTT	0.532000														93			21		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56492082	56492082	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56492082G>A	uc003pcy.4	-	19	3139	c.3031C>T	c.(3031-3033)Ctg>Ttg	p.L1011L	DST_uc021zay.1_Silent_p.L1377L|DST_uc021zax.1_Silent_p.L1011L|DST_uc003pdc.4_Silent_p.L1011L|DST_uc003pdd.4_Silent_p.L1011L	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1337					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCGGACACCAGCATCTATAAA	0.348000														108			24		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156422599	156422599	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156422599C>A	uc003fav.3	+	5	2075	c.1653C>A	c.(1651-1653)gtC>gtA	p.V551V	TIPARP_uc003faw.3_Silent_p.V551V|TIPARP_uc021xgg.1_Silent_p.V551V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	551	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACCCTCGAGTCTGTGGAAAGC	0.418000														274			51		3.07002e-29	3.86007e-29	1	1	0
HOXA4	3201	broad.mit.edu	37	7	27170305	27170305	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27170305C>T	uc003sym.4	-	0	95	c.48G>A	c.(46-48)aaG>aaA	p.K16K		NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	16	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						AGGGAGGGAACTTGGGCTCGA	0.582000														30			6		0	0	1	0	0
WDR78	79819	broad.mit.edu	37	1	67306218	67306218	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67306218C>T	uc001dcx.3	-	8	1484	c.1428G>A	c.(1426-1428)tgG>tgA	p.W476*	WDR78_uc001dcy.3_Nonsense_Mutation_p.W476*|WDR78_uc009waw.3_Nonsense_Mutation_p.W222*|WDR78_uc009wax.3_Non-coding_Transcript	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	476										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGAAAAAGACCAAAGTCGTT	0.398000														97			17		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78719257	78719257	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78719257G>A	uc003dqe.2	-	10	1745	c.1537C>T	c.(1537-1539)Cga>Tga	p.R513*	ROBO1_uc003dqc.2_Nonsense_Mutation_p.R477*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.R477*|ROBO1_uc003dqb.2_Nonsense_Mutation_p.R474*|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Nonsense_Mutation_p.R85*|ROBO1_uc003dqf.1_Nonsense_Mutation_p.R192*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	513	Ig-like C2-type 5.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTAGCATATCGGATCTGCAGT	0.443000														44			5		0	0	1	0	0
GPC3	2719	broad.mit.edu	37	X	132833993	132833993	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132833993G>T	uc010nrn.2	-	4	1362	c.1165C>A	c.(1165-1167)Ctc>Atc	p.L389I	GPC3_uc004exe.2_Missense_Mutation_p.L366I|GPC3_uc011mvh.2_Missense_Mutation_p.L350I|GPC3_uc010nro.2_Missense_Mutation_p.L312I|GPC3_uc010nrp.2_Missense_Mutation_p.L238I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	366						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)					TCAATAAAGAGATCTTCAGGA	0.333000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					82			24		2.52088e-20	3.07656e-20	1	1	0
NEB	4703	broad.mit.edu	37	2	152512810	152512810	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152512810C>T	uc021vrb.1	-	46	6381	c.6352G>A	c.(6352-6354)Gac>Aac	p.D2118N	NEB_uc002txu.3_Missense_Mutation_p.D2118N|NEB_uc021vrc.1_Missense_Mutation_p.D2118N|NEB_uc010fnx.3_Missense_Mutation_p.D2118N|NEB_uc021vrd.1_Missense_Mutation_p.D2118N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2118					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGCATGTCGGCAGGGGTG	0.473000														273			92		0	0	1	0	0
TSN	7247	broad.mit.edu	37	2	122522723	122522723	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122522723T>C	uc002tnl.3	+	5	702	c.467T>C	c.(466-468)gTc>gCc	p.V156A	TSN_uc002tnm.3_Missense_Mutation_p.V109A|TSN_uc010yze.2_Silent_p.C129C|TSN_uc010flt.3_Non-coding_Transcript	NM_004622	NP_004613	Q15631	TSN_HUMAN	Homo sapiens translin (TSN), mRNA.	156					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				AGGCTGTCTGTCAACAGCGTG	0.512000														500			51		0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89727941	89727941	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89727941G>T	uc001dnc.3	-	10	2146	c.1609C>A	c.(1609-1611)Ctg>Atg	p.L537M	GBP5_uc001dnd.3_Missense_Mutation_p.L537M	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	537						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGCTCTGCCAGCCAATTTTGT	0.468000														196			32		2.20474e-14	2.59082e-14	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762815	92762815	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762815C>A	uc003umh.1	-	4	3686	c.2470G>T	c.(2470-2472)Gaa>Taa	p.E824*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.E824*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.E824*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.E824*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.E824*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.E824*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.E824*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.E824*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	824										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCCTTTTCTGCTAAAACG	0.378000														118			31		2.70662e-09	3.00119e-09	1	1	0
DHCR7	1717	broad.mit.edu	37	11	71152458	71152458	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71152458G>A	uc001oqk.3	-	5	691	c.441C>T	c.(439-441)ggC>ggT	p.G147G	DHCR7_uc001oql.3_Silent_p.G147G	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	147			G -> D (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGGCTTGCAGGCCATTGATCT	0.547000									Smith-Lemli-Opitz syndrome					60			10		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113258669	113258669	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113258669C>T	uc001pny.3	+	0	157	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	21							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCGACGACTTCGAGGGCGACT	0.726000														22			4		0	0	1	0	0
CETN2	1069	broad.mit.edu	37	X	151996394	151996394	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151996394G>A	uc004fgq.3	-	4	557	c.510C>T	c.(508-510)agC>agT	p.S170S		NM_004344	NP_004335	P41208	CETN2_HUMAN	Homo sapiens centrin, EF-hand protein, 2 (CETN2), mRNA.	170	EF-hand 4.				G2/M transition of mitotic cell cycle|cell division|centriole replication|mitosis|nucleotide-excision repair|regulation of cytokinesis	XPC complex|centriole|cytosol	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAATAGAGGCTGGTCTTTT	0.408000								Direct reversal of damage;Nucleotide excision repair (NER)						150			18		0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932898	148932898	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:148932898C>T	uc010pbc.1	+	1		c.213C>T			LOC645166_uc010pbd.1_Non-coding_Transcript|LOC645166_uc009wkw.1_Non-coding_Transcript					Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA.																		GCTCAGTCTGCGGCCAAGACT	0.617000														371			20		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696127	60696127	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696127G>T	uc001nqi.3	+	3	754	c.561G>T	c.(559-561)gaG>gaT	p.E187D	TMEM132A_uc001nqj.3_Missense_Mutation_p.E187D|TMEM132A_uc001nqk.3_Missense_Mutation_p.E200D|TMEM132A_uc001nql.1_Missense_Mutation_p.E200D	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	187						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GCGTGGTGGAGCTGGAGCTTC	0.652000														179			27		3.00307e-07	3.23487e-07	1	1	0
IDH2	3418	broad.mit.edu	37	15	90631955	90631955	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631955T>C	uc002box.3	-	3	484	c.398A>G	c.(397-399)aAa>aGa	p.K133R	IDH2_uc010uqb.2_Missense_Mutation_p.K81R|IDH2_uc010uqc.2_Missense_Mutation_p.K3R	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	133					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATTGGGACTTTTCCACATCTT	0.517000			M		GBM									134			21		0	0	1	0	0
USP50	373509	broad.mit.edu	37	15	50822088	50822088	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50822088G>A	uc021sky.1	-	5	1022	c.842C>T	c.(841-843)aCg>aTg	p.T281M	USP50_uc021skx.1_Missense_Mutation_p.T183M	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	281					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		ATGAATATCCGTTCTCAGCTT	0.388000														128			23		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145771066	145771066	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145771066G>T	uc003zds.1	-	6	2643	c.2088C>A	c.(2086-2088)aaC>aaA	p.N696K	ARHGAP39_uc011llk.1_Missense_Mutation_p.N696K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.N696K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	696					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TGGAGGCCCAGTTCTCGATGT	0.637000														114			13		4.3838e-07	4.70703e-07	1	1	0
SCLY	51540	broad.mit.edu	37	2	238990750	238990750	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990750C>A	uc010fyv.3	+	5	808	c.677C>A	c.(676-678)cCt>cAt	p.P226H	SCLY_uc002vxm.4_Missense_Mutation_p.P193H|SCLY_uc010znr.2_Missense_Mutation_p.P132H|SCLY_uc010znq.2_Intron	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	226					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		GCTGGGCTACCTCCCATCCTC	0.587000														175			32		3.99451e-17	4.78557e-17	1	1	0
ADAM22	53616	broad.mit.edu	37	7	87780610	87780610	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87780610A>G	uc003ujn.3	+	19	1871	c.1656A>G	c.(1654-1656)agA>agG	p.R552R	ADAM22_uc003ujk.2_Silent_p.R552R|ADAM22_uc003ujl.2_Silent_p.R552R|ADAM22_uc003ujm.3_Silent_p.R552R|ADAM22_uc003ujo.3_Silent_p.R552R|ADAM22_uc003ujp.1_Silent_p.R604R	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	552	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGAGATAGACAATGCAAAT	0.403000														66			17		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14842621	14842621	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14842621C>A	uc003zlm.3	-	9	2247	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	477					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		CAACTCCAGCCTGGAGGTCAG	0.542000														192			10		0.000673444	0.000690401	1	1	0
AMZ1	155185	broad.mit.edu	37	7	2752047	2752047	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2752047G>A	uc003smr.1	+	6	1393	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	AMZ1_uc003sms.1_Missense_Mutation_p.A288T|AMZ1_uc011jwa.1_Silent_p.P93P	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	344							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGGACACCCCGCCTGCCAGCG	0.672000														60			9		0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171548988	171548988	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171548988C>T	uc010pmg.2	+	27	7554	c.7288C>T	c.(7288-7290)Cca>Tca	p.P2430S	PRRC2C_uc010pmh.2_Missense_Mutation_p.P1342S|PRRC2C_uc010pmi.2_Missense_Mutation_p.P267S|PRRC2C_uc010pmj.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	2430	Gln-rich.						protein C-terminus binding										TCAGCAGATTCCAATCCCTAT	0.423000														60			18		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468126	66468126	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66468126C>A	uc001ojd.3	-	15	3516	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1148					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TTCCCAGGGCCTCCAGTCGCT	0.697000														89			16		4.7546e-09	5.25358e-09	1	1	0
ACVRL1	94	broad.mit.edu	37	12	52309191	52309191	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52309191G>A	uc001rzj.3	+	6	1238	c.955G>A	c.(955-957)Ggt>Agt	p.G319S	ACVRL1_uc001rzk.3_Missense_Mutation_p.G319S|ACVRL1_uc010snm.2_Missense_Mutation_p.G145S	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	319	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGATCTTCGGTACACAGGG	0.617000														95			23		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167874374	167874374	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874374T>G	uc001ger.3	-	1	303	c.5A>C	c.(4-6)aAc>aCc	p.N2T	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_5'UTR|ADCY10_uc009wvl.3_Missense_Mutation_p.N2T|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	2					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTTTGGAGTGTTCATGTTCAA	0.393000														132			37		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635067	200635067	+	Missense_Mutation	SNP	C	T	T	rs143810968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635067C>T	uc009wzk.3	-	1	1045	c.802G>A	c.(802-804)Gag>Aag	p.E268K	DDX59_uc010ppl.1_Missense_Mutation_p.E268K	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	268	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ACACTTACCTCGAATAAAGCT	0.368000														75			28		0	0	1	0	0
PFDN1	5201	broad.mit.edu	37	5	139661041	139661041	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139661041T>G	uc003lff.1	-	2	309	c.278A>C	c.(277-279)gAa>gCa	p.E93A	CYSTM1_uc010jfi.3_Intron	NM_002622	NP_002613	O60925	PFD1_HUMAN	Homo sapiens prefoldin subunit 1 (PFDN1), mRNA.	93					'de novo' posttranslational protein folding|cell cycle	prefoldin complex	sequence-specific DNA binding transcription factor activity|unfolded protein binding			endometrium(2)|large_intestine(3)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTTCTAGTTCTTTAATTTT	0.328000														17			4		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68153814	68153814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68153814G>A	uc001ont.3	+	5	1121	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	LRP5_uc009ysg.3_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	349	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGCCCGGCGGACGGACCTA	0.662000														171			11		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55665401	55665401	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55665401C>A	uc002qjg.4	-	6	546	c.546G>T	c.(544-546)gaG>gaT	p.E182D	TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	182					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCACCTTCTCGGTGTCCT	0.622000														234			48		2.24722e-20	2.74335e-20	1	1	0
BPTF	2186	broad.mit.edu	37	17	65924474	65924474	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65924474C>T	uc002jgf.3	+	15	5816	c.5755C>T	c.(5755-5757)Cga>Tga	p.R1919*	BPTF_uc002jge.3_Nonsense_Mutation_p.R2045*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2045					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTAGAAACGACTGGAGCA	0.418000														65			10		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98853155	98853155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98853155G>A	uc002syo.3	+	18	2899	c.2635G>A	c.(2635-2637)Gtc>Atc	p.V879I	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.V398I|VWA3B_uc002sym.3_Missense_Mutation_p.V879I|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.V536I|VWA3B_uc002syp.1_Missense_Mutation_p.V271I|VWA3B_uc002syq.1_Missense_Mutation_p.V155I|VWA3B_uc002syr.1_Missense_Mutation_p.V196I|VWA3B_uc010fih.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	879								p.V879F(2)|p.V879A(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTATGTTCCCGTCCTGGACAA	0.478000														277			46		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144918	56144918	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144918G>A	uc002rzi.3	-	4	900	c.399C>T	c.(397-399)ggC>ggT	p.G133G	EFEMP1_uc002rzj.3_Silent_p.G133G|EFEMP1_uc010ypc.2_Silent_p.G75G	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	133					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGTTATTTCGGCCAGTCTGCA	0.597000														162			61		0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140633	143140633	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143140633G>A	uc011ktg.2	+	0	88	c.88G>A	c.(88-90)Gta>Ata	p.V30I	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	30					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TTTACGCCTGGTAGCAATAGC	0.488000														243			17		0	0	1	0	0
ZNF471	57573	broad.mit.edu	37	19	57036570	57036570	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57036570T>C	uc002qnh.3	+	4	1267	c.1134T>C	c.(1132-1134)atT>atC	p.I378I		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	Homo sapiens zinc finger protein 471 (ZNF471), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TTAATTGCATTGATTGTGGGA	0.393000														153			32		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115272969	115272969	+	Silent	SNP	G	A	A	rs147370534	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115272969G>A	uc001efi.3	-	12	1926	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Silent_p.S422S|CSDE1_uc001efm.3_Silent_p.S437S|CSDE1_uc009wgv.3_Silent_p.S422S|CSDE1_uc001efl.3_Silent_p.S391S|CSDE1_uc001efn.3_Silent_p.S391S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	422	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding	p.L468V(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GATCTGAATGGGAATGAAATG	0.373000														105			22		0	0	1	0	0
RAB9A	9367	broad.mit.edu	37	X	13727191	13727191	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13727191C>T	uc022bte.1	+	0	326	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RAB9A_uc004cvm.3_Missense_Mutation_p.A109V|RAB9A_uc010neh.3_Missense_Mutation_p.A109V	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	109					protein transport|small GTPase mediated signal transduction	Golgi membrane|endoplasmic reticulum membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						ATATATTATGCAGATGTGAAA	0.418000														186			45		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33463193	33463193	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33463193C>T	uc002hiy.1	-	8	1034	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M	NLE1_uc002hiz.1_Missense_Mutation_p.V44M	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	336						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CTCACCCGCACGAGGTTGTAT	0.552000														407			81		0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935961	209935961	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209935961T>G	uc001hho.3	+	3	867	c.447T>G	c.(445-447)ctT>ctG	p.L149L	TRAF3IP3_uc001hhm.2_Silent_p.L149L|TRAF3IP3_uc001hhn.3_Silent_p.L129L|TRAF3IP3_uc009xcr.3_Silent_p.L149L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	149						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)		CTGGGGGCCTTCCTCCACAGG	0.592000														125			27		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059868	79059868	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059868G>A	uc002bej.4	-	17	2923	c.2712C>T	c.(2710-2712)gcC>gcT	p.A904A	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	904	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGCAGAGCACGGCCCGGCGGG	0.697000														33			12		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25625529	25625529	+	Missense_Mutation	SNP	C	T	T	rs2330991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25625529C>T	uc003abp.1	+	4	481	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	145	Beta/gamma crystallin 'Greek key' 3.				response to stimulus|visual perception		structural constituent of eye lens	p.R145Q(1)|p.R145P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						GTCATCTGTGCGGGTGCAGAG	0.567000														69			11		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65007778	65007778	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65007778G>A	uc001xhj.3	+	1	287	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	HSPA2_uc001xhk.4_Missense_Mutation_p.A71T	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	71					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCTTCGACGCCAAGAGGCT	0.612000														118			28		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	819456	819456	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:819456C>T	uc002cjz.1	-	15	3134	c.3134G>A	c.(3133-3135)cGc>cAc	p.R1045H	MIR662_uc021tac.1_5'Flank	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	694					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCCAAGTGGGCGTCCAGCTGA	0.632000														127			31		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18419793	18419793	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18419793C>A	uc003cbh.3	-	8	3179	c.1444G>T	c.(1444-1446)Gaa>Taa	p.E482*	SATB1_uc003cbi.3_Nonsense_Mutation_p.E482*|SATB1_uc003cbj.3_Nonsense_Mutation_p.E482*	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	482					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCATTCCTTTCAGTGGCAATA	0.393000														235			55		8.28887e-21	1.01439e-20	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088565	86088565	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:86088565C>T	uc021rxf.1	+	0	707	c.707C>T	c.(706-708)tCa>tTa	p.S236L	FLRT2_uc001xvr.3_Missense_Mutation_p.S236L|FLRT2_uc010atd.3_Missense_Mutation_p.S236L	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	236					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGAATTTTCAATTGTACGT	0.517000														151			34		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100843573	100843573	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100843573G>A	uc003uyc.3	-	2	397	c.230C>T	c.(229-231)tCg>tTg	p.S77L	MOGAT3_uc010lhr.3_Missense_Mutation_p.S77L	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	77					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TATCCACTCCGAACGCCTTCC	0.567000														334			35		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187539140	187539140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187539140C>T	uc003izf.3	-	9	8788	c.8600G>A	c.(8599-8601)gGc>gAc	p.G2867D		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2867	Cadherin 26.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTAATCCAGCCTGTTTCCAT	0.418000										HNSCC(5;0.00058)				83			21		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763286	43763286	+	Splice_Site	SNP	C	T	T	rs4028446		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43763286C>T	uc002owd.4	-	4	809	c.710_splice	c.e4-1	p.P237_splice	PSG9_uc002owe.4_Intron|PSG9_uc010xwm.2_Splice_Site_p.S144_splice|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	237					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.493000														338			66		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82779357	82779357	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82779357G>T	uc003kii.3	+	1	376	c.20G>T	c.(19-21)aGc>aTc	p.S7I	VCAN_uc003kij.3_Missense_Mutation_p.S7I|VCAN_uc010jau.2_Missense_Mutation_p.S7I|VCAN_uc003kik.3_Missense_Mutation_p.S7I|VCAN_uc003kih.4_Missense_Mutation_p.S7I	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	7					cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATATAAAGAGCATCTTATGG	0.323000														46			8		3.09899e-07	3.33423e-07	1	1	0
SACS	26278	broad.mit.edu	37	13	23915088	23915088	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23915088C>T	uc001uon.2	-	9	3516	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_uc001uoo.2_Missense_Mutation_p.R829H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348000														74			25		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40424170	40424170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40424170G>A	uc002omp.4	-	3	2041	c.2033C>T	c.(2032-2034)aCc>aTc	p.T678I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	678	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCGAGCTTGGTCAGCATGCC	0.632000														522			122		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143082630	143082630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143082630G>A	uc003qjd.3	-	7	6334	c.5591C>T	c.(5590-5592)tCg>tTg	p.S1864L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1864					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATCATCCACCGATGTCATTGA	0.403000														162			37		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788293	5788293	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788293G>A	uc001iij.3	+	14	3534	c.2909G>A	c.(2908-2910)gGc>gAc	p.G970D	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	970																	TCTTACAGTGGCACTGTTACT	0.473000														96			27		0	0	1	0	0
RIN3	79890	broad.mit.edu	37	14	93118417	93118417	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93118417C>T	uc001yap.3	+	5	1175	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	RIN3_uc010auk.3_Silent_p.C3C|RIN3_uc001yaq.3_Silent_p.C266C|RIN3_uc001yar.1_Silent_p.C3C|RIN3_uc001yas.1_Silent_p.C3C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	341	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGATGACCTGCGAGAGACTCC	0.697000														82			15		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9517250	9517250	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9517250G>T	uc003brt.3	+	22	4239	c.3804G>T	c.(3802-3804)caG>caT	p.Q1268H	SETD5_uc003bru.3_Missense_Mutation_p.Q1170H|SETD5_uc003brv.3_Missense_Mutation_p.Q1157H|SETD5_uc010hck.3_Missense_Mutation_p.Q750H|SETD5_uc003brx.3_Missense_Mutation_p.Q937H	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	1268	Ser-rich.							p.T1268fs*4(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ATCCTACACAGTCTCCAGGAT	0.522000														115			14		1.52009e-12	1.75732e-12	1	1	0
KIAA1383	54627	broad.mit.edu	37	1	232941539	232941539	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941539C>A	uc001hvh.2	+	0	902	c.770C>A	c.(769-771)aCc>aAc	p.T257N		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	115										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CCGCTTGCCACCTTGCTGCTG	0.726000														48			12		0.00010058	0.000104357	1	1	0
GRXCR1	389207	broad.mit.edu	37	4	42895651	42895651	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42895651T>C	uc003gwt.3	+	0	369	c.368T>C	c.(367-369)tTg>tCg	p.L123S		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	123					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						TTTAACAATTTGACCAAAGTA	0.418000														163			33		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109274296	109274296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109274296C>T	uc003pss.4	+	12	1831	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	ARMC2_uc011eao.2_Missense_Mutation_p.R388C	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	553							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TAACCAGGCTCGTGAACAATT	0.463000														56			14		0	0	1	0	0
FMNL1	752	broad.mit.edu	37	17	43311026	43311026	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43311026A>G	uc002iin.3	+	4	613	c.413A>G	c.(412-414)gAg>gGg	p.E138G	FMNL1_uc002iio.3_Missense_Mutation_p.E83G|FMNL1_uc002iip.1_Missense_Mutation_p.E132G	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	138	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGGTGCAGGAGTTCCTCAAT	0.627000														127			18		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841224	20841224	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841224A>G	uc001vxe.3	-	47	6937	c.6897T>C	c.(6895-6897)aaT>aaC	p.N2299N	TEP1_uc010ahj.1_Non-coding_Transcript|TEP1_uc010ahk.3_Silent_p.N1642N|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.N2191N|TEP1_uc010tlh.1_Silent_p.N637N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2299					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCCAGCTTGATTTCCAGATA	0.517000														142			28		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717474	2717474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717474C>T	uc002lwf.3	-	1	489	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	DIRAS1_uc021umt.1_Missense_Mutation_p.V111M	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	111					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTCCTCCACGCTGCCCTTG	0.642000														125			17		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539009	56539009	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56539009G>A	uc002qmj.3	+	6	1410	c.1410G>A	c.(1408-1410)gtG>gtA	p.V470V	NLRP5_uc002qmi.3_Silent_p.V451V	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	470	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGTGCCAGGTGCCCGCCGTGG	0.632000														98			23		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48587583	48587583	+	Missense_Mutation	SNP	C	T	T	rs147977517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48587583C>T	uc003ctv.3	-	1	199	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	PFKFB4_uc003ctx.3_Missense_Mutation_p.R18Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R61Q|PFKFB4_uc003ctw.3_5'UTR|PFKFB4_uc010hkc.3_Missense_Mutation_p.R61Q|PFKFB4_uc011bbm.2_Missense_Mutation_p.R50Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	61	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTTCAGGTATCGAGTCAGCTT	0.562000														108			23		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89598955	89598955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89598955C>T	uc002fnj.3	+	8	1256	c.1235C>T	c.(1234-1236)gCg>gTg	p.A412V	SPG7_uc002fni.3_Missense_Mutation_p.A412V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	412					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GAGATCGACGCGGTGGGCAAG	0.627000														168			36		0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20409711	20409711	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20409711T>C	uc010tcn.1	-	6	1422	c.1157A>G	c.(1156-1158)tAc>tGc	p.Y386C	ZMYM5_uc001umm.1_Missense_Mutation_p.Y210C	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	386						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTAGGCATGTACTCTCCACA	0.373000														49			14		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220409581	220409581	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220409581G>A	uc002vme.3	+	2	717	c.132G>A	c.(130-132)atG>atA	p.M44I	CHPF_uc010zlh.2_5'Flank|CHPF_uc002vmc.4_5'Flank|TMEM198_uc002vmf.3_Missense_Mutation_p.M44I	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	44						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCTGCATCATGTGCTGTTTGT	0.597000														169			37		0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8046064	8046064	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8046064C>A	uc002mjb.3	-	2	346	c.179G>T	c.(178-180)aGc>aTc	p.S60I		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	60	RRM 1.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATAGCCCAAGCTGTGTCCTGT	0.527000														136			34		4.34311e-12	4.98405e-12	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102467348	102467348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102467348C>T	uc001yks.2	+	18	4296	c.4132C>T	c.(4132-4134)Cga>Tga	p.R1378*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1378	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGCCCGGTTGCGACAGTATGC	0.473000														232			53		0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354048	23354048	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354048C>T	uc001whf.1	+	1	334	c.269C>T	c.(268-270)cCt>cTt	p.P90L	REM2_uc010tnd.1_Missense_Mutation_p.P82L	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	90					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		GACTGGCCACCTCAGGCCTCA	0.632000														160			13		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429170	135429170	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429170C>T	uc004ezu.1	+	5	3596	c.3305C>T	c.(3304-3306)gCa>gTa	p.A1102V	GPR112_uc010nsb.1_Missense_Mutation_p.A897V|GPR112_uc010nsc.1_Missense_Mutation_p.A869V	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1102					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)					ACATCCATGGCAGTTCCTTCT	0.478000														202			53		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151511917	151511917	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151511917G>A	uc010ipj.3	-	39	6418	c.6174C>T	c.(6172-6174)ggC>ggT	p.G2058G	LRBA_uc003ilt.4_Silent_p.G706G|LRBA_uc003ilu.4_Silent_p.G2047G	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2058						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TATCATCATCGCCTTCCAGGA	0.428000														94			20		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8209804	8209804	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8209804G>A	uc002mjf.3	-	4	515	c.498C>T	c.(496-498)cgC>cgT	p.R166R		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	166	EGF-like 1.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CACAGGCGCAGCGGTTGGGCC	0.622000														23			3		0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163130398	163130398	+	Silent	SNP	G	A	A	rs35677292		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163130398G>A	uc002uce.3	-	11	2583	c.2361C>T	c.(2359-2361)atC>atT	p.I787I		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	787	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTGTGGTAGCGATAAGCAGAT	0.338000														109			13		0	0	1	0	0
ZNF395	55893	broad.mit.edu	37	8	28217156	28217156	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28217156C>A	uc003xgq.3	-	2	514	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF395_uc003xgt.3_Missense_Mutation_p.Q142H|ZNF395_uc003xgr.3_Missense_Mutation_p.Q142H|ZNF395_uc003xgs.3_Missense_Mutation_p.Q142H	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	142					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AGGCCAGGGCCTGGGCTCCGG	0.617000														227			66		5.62145e-24	6.97452e-24	1	1	0
RARS	5917	broad.mit.edu	37	5	167922434	167922434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167922434G>A	uc003lzx.3	+	5	735	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	RARS_uc011deo.2_Missense_Mutation_p.V26M	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	232					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		AGGGTATGACGTGCTCAGGTA	0.408000														147			38		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137154342	137154342	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137154342C>T	uc003vtt.3	-	24	2452	c.2451G>A	c.(2449-2451)agG>agA	p.R817R	DGKI_uc003vtu.3_Silent_p.R517R	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	817					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.P816L(1)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CTGAGAGAGCCCTGGGGAAGG	0.532000														102			10		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269797	28269797	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269797G>A	uc003nky.3	+	6	2586	c.2166G>A	c.(2164-2166)caG>caA	p.Q722Q	PGBD1_uc003nkz.3_Silent_p.Q722Q	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	722					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAATCCCTCAGATAAGTCAAC	0.413000														125			30		0	0	1	0	0
TRIM14	9830	broad.mit.edu	37	9	100850171	100850171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100850171G>A	uc004ayd.2	-	5	928	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	TRIM14_uc011luz.1_Missense_Mutation_p.R82W|TRIM14_uc011lva.1_Missense_Mutation_p.R85W|TRIM14_uc004ayg.1_Missense_Mutation_p.R304W|TRIM14_uc004ayh.1_Missense_Mutation_p.R304W	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	304	B30.2/SPRY.					cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				GCGTCGAACCGCAGCACGGGC	0.726000														27			8		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3613437	3613437	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3613437G>A	uc010btn.3	-	4	1912	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	501					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGCATGGCCCGCTGGGCTGCG	0.657000														20			8		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174940559	174940559	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940559C>T	uc003mda.2	+	6	828	c.690C>T	c.(688-690)gtC>gtT	p.V230V	SFXN1_uc003mdb.1_Silent_p.V169V	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	230					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	p.V229A(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGCAAGTTGTCGTGTCCAGGA	0.532000														97			43		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46603819	46603819	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46603819G>T	uc002ruv.3	+	8	1686	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	392					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TATTCACCAAGCTAAAGGAGG	0.562000														313			41		7.63091e-17	9.12654e-17	1	1	0
MAP3K13	9175	broad.mit.edu	37	3	185183578	185183578	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185183578C>T	uc010hyf.3	+	9	1723	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	MAP3K13_uc011brt.2_Missense_Mutation_p.R271W|MAP3K13_uc011bru.2_Missense_Mutation_p.R334W|MAP3K13_uc003fpi.3_Missense_Mutation_p.R478W|MAP3K13_uc010hyg.3_Missense_Mutation_p.R168W	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	478					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.R478W(3)|p.R478R(2)|p.R478L(1)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GAAGCTTGAGCGGGCGAATAA	0.478000														186			42		0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85401163	85401163	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85401163G>A	uc002ble.3	+	5	3967	c.3800G>A	c.(3799-3801)gGt>gAt	p.G1267D		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1267					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGGGGTCCTGGTCCCAGCTCC	0.682000														44			7		0	0	1	0	0
PLK3	1263	broad.mit.edu	37	1	45270982	45270982	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45270982G>A	uc001cmn.3	+	13	1780	c.1680G>A	c.(1678-1680)ccG>ccA	p.P560P		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	560						membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TACCTGCTCCGCCCTTGCTGC	0.592000														152			17		0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242024727	242024727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242024727G>A	uc021plj.1	+	7	1278	c.964G>A	c.(964-966)Gct>Act	p.A322T	EXO1_uc001hzh.3_Missense_Mutation_p.A322T|EXO1_uc009xgq.3_Missense_Mutation_p.A322T|EXO1_uc021plk.1_Missense_Mutation_p.A322T	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	322	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TGATTCCATAGCTCTTCAAAT	0.308000								Editing and processing nucleases						63			13		0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63673584	63673584	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63673584C>A	uc011kdn.2	+	1	154	c.154C>A	c.(154-156)Ctg>Atg	p.L52M		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTACAGAAACCTGTTCTCCCT	0.393000														58			8		5.18039e-06	5.47662e-06	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22664525	22664525	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22664525G>T	uc002yld.2	+	4	832	c.583G>T	c.(583-585)Gaa>Taa	p.E195*	NCAM2_uc011acb.2_Nonsense_Mutation_p.E53*|NCAM2_uc011acc.2_Nonsense_Mutation_p.E220*	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	195	Ig-like C2-type 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GGCCAGGGGAGAAATTGACTT	0.338000														73			11		1.08611e-07	1.17606e-07	1	1	0
SKIV2L	6499	broad.mit.edu	37	6	31930244	31930244	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31930244C>A	uc003nyn.1	+	10	1482	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	SKIV2L_uc011dou.1_Missense_Mutation_p.L207M|SKIV2L_uc011dov.1_Missense_Mutation_p.L172M	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	365	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CATCAAGGCCCTGAGCAACCA	0.592000														129			29		1.30897e-18	1.58338e-18	1	1	0
DMTF1	9988	broad.mit.edu	37	7	86817581	86817581	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86817581G>A	uc003uih.3	+	12	1701	c.1375G>A	c.(1375-1377)Gca>Aca	p.A459T	DMTF1_uc003uii.3_Missense_Mutation_p.A193T|DMTF1_uc003uij.3_Missense_Mutation_p.A193T|DMTF1_uc011khb.2_Missense_Mutation_p.A371T|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.A459T|DMTF1_uc003uin.3_Missense_Mutation_p.A193T	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	459	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCCCCATGGCAGCATTGCA	0.423000														189			49		0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507398	155507398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155507398G>A	uc003iod.1	-	4	1241	c.1183C>T	c.(1183-1185)Cca>Tca	p.P395S	FGA_uc003ioe.1_Missense_Mutation_p.P395S|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	395					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGGCTATCTGGCCTAAAACTT	0.537000														201			29		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411931	51411931	+	Silent	SNP	C	T	T	rs140587389	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411931C>T	uc001nhi.2	-	0	518	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453000														77			18		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120284428	120284428	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120284428G>A	uc001ehz.3	+	9	1344	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	PHGDH_uc009whm.3_Missense_Mutation_p.A271T|PHGDH_uc001eib.3_Missense_Mutation_p.A339T	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	373			A -> T (in PHGDH deficiency; results in almost undetectable enzyme activity with 3-phosphohydroxypyruvate).		L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CCTAAGCCCCGCAGTCATTGT	0.567000														135			15		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123297931	123297931	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123297931A>G	uc001udc.3	+	10	2128	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_Missense_Mutation_p.I417V|CCDC62_uc021rfn.1_Missense_Mutation_p.I471V	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	656						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACTGCTGCCCATCAGCCATGA	0.517000														120			33		0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42406492G>A	uc002orx.3	+	15	1592	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_uc002ory.3_Missense_Mutation_p.V462M|ARHGEF1_uc002orz.3_Missense_Mutation_p.V333M|ARHGEF1_uc002osa.3_Missense_Mutation_p.V510M|ARHGEF1_uc002osb.3_Missense_Mutation_p.V477M|ARHGEF1_uc002osc.3_Missense_Mutation_p.V249M|ARHGEF1_uc002osd.3_Missense_Mutation_p.V154M	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	495	DH.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647000														121			26		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23364329	23364329	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23364329C>A	uc002dln.3	+	2	695	c.519C>A	c.(517-519)ggC>ggA	p.G173G		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	173					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	ACCACAATGGCTTAACAAGCA	0.502000														198			42		2.24893e-16	2.68234e-16	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107677867	107677867	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107677867C>T	uc010ljo.1	-	29	4729	c.4645G>A	c.(4645-4647)Gcc>Acc	p.A1549T	LAMB4_uc003vey.2_Missense_Mutation_p.A1549T|LAMB4_uc010ljp.1_Missense_Mutation_p.A518T	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1549	Domain I.				cell adhesion	basement membrane		p.A1549D(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGCTTTTGGGCTCCATCTGCT	0.388000														220			35		0	0	1	0	0
USP37	57695	broad.mit.edu	37	2	219374752	219374752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219374752C>T	uc010fvs.1	-	10	1388	c.975G>A	c.(973-975)tgG>tgA	p.W325*	USP37_uc002vie.2_Nonsense_Mutation_p.W325*|USP37_uc010zkf.1_Nonsense_Mutation_p.W325*|USP37_uc002vif.2_Nonsense_Mutation_p.W325*|USP37_uc002vig.2_Nonsense_Mutation_p.W253*	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	325					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTGGTTTATTCCAGCCAGTGT	0.423000														125			15		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46497062	46497062	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46497062G>T	uc001cov.3	+	24	3276	c.2993_splice	c.e24-1	p.A998_splice	MAST2_uc001cow.3_Splice_Site_p.A998_splice|MAST2_uc001cpa.3_Splice_Site	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	998					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGGCCTACAGCTATGGAGAC	0.657000														77			32		1.61788e-16	1.92999e-16	1	1	0
PLCXD1	55344	broad.mit.edu	37	X	207360	207360	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:207360G>T	uc004cpc.3	+	3	622	c.310G>T	c.(310-312)Gac>Tac	p.D104Y	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	104	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGGTACCTGGACCTGCGGAT	0.652000														118			33		9.65021e-13	1.11782e-12	1	1	0
TAF4B	6875	broad.mit.edu	37	18	23866330	23866330	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866330C>A	uc002kvt.4	+	6	1946	c.1457C>A	c.(1456-1458)cCt>cAt	p.P486H	TAF4B_uc002kvu.4_Missense_Mutation_p.P486H|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	486					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TCTGTGAAACCTGTTGTTTCT	0.483000														157			29		3.73148e-12	4.28986e-12	1	1	0
PHF17	79960	broad.mit.edu	37	4	129783239	129783239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129783239G>A	uc011cgy.2	+	8	1676	c.1362G>A	c.(1360-1362)tgG>tgA	p.W454*	PHF17_uc003igj.3_Nonsense_Mutation_p.W454*|PHF17_uc003igk.3_Nonsense_Mutation_p.W454*|PHF17_uc003igl.3_Nonsense_Mutation_p.W442*|PHF17_uc003igm.3_Nonsense_Mutation_p.W454*	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	454					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						ACCAGTACTGGAAGTTGAAGA	0.502000														145			47		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043354	20043354	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043354C>T	uc002dgu.1	-	1	927	c.765G>A	c.(763-765)gcG>gcA	p.A255A	GPR139_uc010vaw.1_Silent_p.A162A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532000														155			39		0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132375512	132375512	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375512C>A	uc004byc.4	-	5	1264	c.1062G>T	c.(1060-1062)caG>caT	p.Q354H	C9orf50_uc022boo.1_Missense_Mutation_p.Q353H	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	354										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				AAAGGTAGCCCTGTGTCTTCT	0.632000														116			28		3.90053e-15	4.60698e-15	1	1	0
AFAP1L2	84632	broad.mit.edu	37	10	116060340	116060340	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116060340C>A	uc001lbn.3	-	13	1953	c.1652G>T	c.(1651-1653)aGc>aTc	p.S551I	AFAP1L2_uc001lbo.3_Missense_Mutation_p.S551I|AFAP1L2_uc010qse.2_Missense_Mutation_p.S604I|AFAP1L2_uc001lbp.3_Missense_Mutation_p.S579I|AFAP1L2_uc001lbr.1_Missense_Mutation_p.S551I|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Missense_Mutation_p.S117I|AFAP1L2_uc001lbq.1_Missense_Mutation_p.S73I	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	551					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGTGCACTGCTGGGGCCATG	0.612000														163			7		0.00198382	0.00202356	1	1	0
ZNF713	349075	broad.mit.edu	37	7	56007462	56007462	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56007462C>T	uc003tra.2	+	6	1902	c.1095C>T	c.(1093-1095)acC>acT	p.T365T	ZNF713_uc003trc.1_Silent_p.T352T	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GACTTCATACCGGAGAGAAAC	0.408000														124			23		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432413	26432413	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26432413A>T	uc001isn.2	+	20	2659	c.2299A>T	c.(2299-2301)Att>Ttt	p.I767F	MYO3A_uc009xko.1_Missense_Mutation_p.I767F|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	767	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGCTAGAGTTATTGAATATGA	0.338000														48			15		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30003138	30003138	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30003138C>A	uc001zcr.3	-	23	4744	c.4269G>T	c.(4267-4269)caG>caT	p.Q1423H	TJP1_uc010azl.3_Missense_Mutation_p.Q1411H|TJP1_uc001zcq.3_Missense_Mutation_p.Q1347H|TJP1_uc001zcs.3_Missense_Mutation_p.Q1343H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1423					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGGAGTGGCCTGGATGGGTT	0.527000														308			61		2.03366e-24	2.52734e-24	1	1	0
SFRP1	6422	broad.mit.edu	37	8	41161013	41161013	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41161013C>A	uc003xnt.3	-	1	901	c.589G>T	c.(589-591)Gcc>Tcc	p.A197S		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	197	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCAATGATGGCCTCAGATTTC	0.522000														73			7		5.68852e-11	6.443e-11	1	1	0
TGFBR2	7048	broad.mit.edu	37	3	30732970	30732970	+	Missense_Mutation	SNP	G	A	A	rs104893815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30732970G>A	uc003ceo.3	+	6	1965	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H	TGFBR2_uc003cen.3_Missense_Mutation_p.R553H	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	528	Protein kinase.		R -> C (in LDS1B).|R -> H (in LDS1B).		activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)|p.R528H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CCAGAGGCCCGTCTCACAGCC	0.597000														129			33		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142212021	142212021	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142212021C>T	uc003eux.4	-	34	6153	c.6031G>A	c.(6031-6033)Gaa>Aaa	p.E2011K		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2011	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCTGTTTCTTCCATAAATCGG	0.353000								Other conserved DNA damage response genes						61			9		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120892	47120892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47120892C>T	uc001wwg.3	-	0	137	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	16					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATTTTGGGTACGGCTTGTTCT	0.537000														189			49		0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114282486	114282486	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114282486G>A	uc009zwi.2	-	22	2916	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	RBM19_uc001tvn.4_Silent_p.A924A|RBM19_uc001tvm.3_Silent_p.A924A	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	924					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GAAAGTGAGCGGCCGTCTTCC	0.652000														62			23		0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159546030	159546030	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159546030C>T	uc011ded.2	-	0	423	c.366G>A	c.(364-366)gaG>gaA	p.E122E	PWWP2A_uc003lxv.4_Silent_p.E122E|PWWP2A_uc011dec.2_Silent_p.E122E	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	122	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCGGGGGCTGCTCCGGCGGCG	0.746000														63			13		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492907	71492907	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71492907G>A	uc003kbw.4	+	4	3966	c.3725G>A	c.(3724-3726)aGc>aAc	p.S1242N	MAP1B_uc010iyw.1_Missense_Mutation_p.S1259N|MAP1B_uc010iyx.1_Missense_Mutation_p.S1116N|MAP1B_uc010iyy.1_Missense_Mutation_p.S1116N	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1242						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ATCAAAGATAGCATCTCAGCT	0.502000														120			24		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57272168	57272168	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57272168A>G	uc001xcq.3	-	2	281	c.7T>C	c.(7-9)Tct>Cct	p.S3P	OTX2_uc001xcp.3_Missense_Mutation_p.S3P|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.S3P	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	3					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAGATAAGACATCATGCTA	0.562000														61			13		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926671	1926671	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926671C>T	uc002qxe.3	-	9	1697	c.870G>A	c.(868-870)tcG>tcA	p.S290S	MYT1L_uc002qxd.3_Silent_p.S290S|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	290					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCTTGCTGCGACATGCTGT	0.453000														250			33		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25203540	25203540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25203540C>T	uc002wuj.2	+	11	1292	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	ENTPD6_uc002wum.2_Missense_Mutation_p.T354M|ENTPD6_uc010zta.1_Missense_Mutation_p.T371M|ENTPD6_uc002wuk.2_Missense_Mutation_p.T370M|ENTPD6_uc002wul.2_Missense_Mutation_p.T370M|ENTPD6_uc010ztb.1_Missense_Mutation_p.T343M|ENTPD6_uc010ztc.1_Missense_Mutation_p.T343M|ENTPD6_uc002wuo.2_Missense_Mutation_p.T123M|ENTPD6_uc010zsz.1_Missense_Mutation_p.T153M|ENTPD6_uc010ztd.1_Missense_Mutation_p.T119M|ENTPD6_uc010gdl.1_Non-coding_Transcript|ENTPD6_uc010gdk.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	371						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.T371T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTGCACAGGACGGAGGAAGTG	0.577000														247			44		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113243054	113243054	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113243054C>A	uc001eck.3	+	20	3207	c.2937C>A	c.(2935-2937)gaC>gaA	p.D979E	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.D979E|MOV10_uc001ecm.3_Missense_Mutation_p.D919E	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	979					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		ACAGCCATGACTACCTCCCCC	0.602000														95			16		6.31663e-08	6.86475e-08	1	1	0
KIF13B	23303	broad.mit.edu	37	8	29004938	29004938	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29004938C>A	uc003xhh.4	-	16	2054	c.1995G>T	c.(1993-1995)caG>caT	p.Q665H	KIF13B_uc003xhj.2_Missense_Mutation_p.Q562H	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	665					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTAAGCGTTGCTGAGCGCTGG	0.552000														33			11		5.50884e-06	5.8131e-06	1	1	0
RTN4	57142	broad.mit.edu	37	2	55253303	55253303	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55253303A>G	uc002rye.3	-	2	2230	c.1932T>C	c.(1930-1932)gtT>gtC	p.V644V	RTN4_uc002ryd.3_Silent_p.V438V|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	644					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTTCATAATTAACTGAAGAAG	0.408000														56			19		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25042959	25042959	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042959G>T	uc010ykm.2	-	20	3479	c.3280C>A	c.(3280-3282)Ctc>Atc	p.L1094I	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.L680I|ADCY3_uc002rfs.4_Missense_Mutation_p.L1093I	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1093					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TACTCTCGGAGGATGACTTGG	0.612000														84			24		4.22769e-11	4.79992e-11	1	1	0
AGAP4	119016	broad.mit.edu	37	10	46322028	46322028	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46322028C>T	uc001jcx.4	-	6	1453	c.1327G>A	c.(1327-1329)Gcc>Acc	p.A443T	AGAP4_uc021pps.1_Missense_Mutation_p.A443T|AGAP4_uc010qfl.2_Missense_Mutation_p.A466T|AGAP4_uc001jcy.4_Missense_Mutation_p.A358T|DQ588224_uc010qfm.1_5'Flank	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	443	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GACTGCAGGGCCATGGCCTTG	0.577000														339			37		0	0	1	0	0
STK38L	23012	broad.mit.edu	37	12	27475324	27475324	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27475324A>C	uc001rhr.3	+	13	1530	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	STK38L_uc010sjm.2_Missense_Mutation_p.K351T|STK38L_uc010sjn.2_Missense_Mutation_p.K182T|STK38L_uc010sjo.2_Missense_Mutation_p.K109T	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	444	AGC-kinase C-terminal.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					TATACCTATAAAAGGTTTGAA	0.378000														186			35		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183659682	183659682	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183659682C>T	uc003ivd.1	+	16	3439	c.3364C>T	c.(3364-3366)Ctg>Ttg	p.L1122L	ODZ3_uc003ive.1_Silent_p.L528L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1122					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)		ACATCACGTGCTGGATGTACA	0.438000														107			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13766267	13766267	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13766267C>T	uc003jfd.2	-	58	9961	c.9919G>A	c.(9919-9921)Gcc>Acc	p.A3307T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3307	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A3307T(2)|p.I3306N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGAACAGTGGCGATGTCCGAA	0.522000									Kartagener syndrome					234			35		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44588995	44588995	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44588995C>A	uc002xqw.3	-	13	1995	c.1872G>T	c.(1870-1872)gaG>gaT	p.E624D	ZNF335_uc010zxk.2_Missense_Mutation_p.E469D	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCACAGAACTCACACTTGA	0.552000														102			15		7.93312e-07	8.47869e-07	1	1	0
MBD2	8932	broad.mit.edu	37	18	51715256	51715256	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51715256T>G	uc002lfg.2	-	2	1057	c.828A>C	c.(826-828)gaA>gaC	p.E276D		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	276					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	GACGTGGCTGTTCATTCATTC	0.333000														163			34		0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796947	109796947	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:109796947C>T	uc003ymy.1	-	1	486	c.381G>A	c.(379-381)tcG>tcA	p.S127S	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.S127S	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	127					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			TTGCTGATGGCGAGCTCCGGT	0.493000														142			36		0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16120588	16120588	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120588G>A	uc002gpv.3	+	0	80	c.48G>A	c.(46-48)tgG>tgA	p.W16*	NCOR1_uc002gpo.3_5'Flank|PIGL_uc010vwd.2_Nonsense_Mutation_p.W16*|NCOR1_uc002gps.2_5'Flank|NCOR1_uc010cpb.2_5'Flank|NCOR1_uc010coz.2_5'Flank|NCOR1_uc010cpa.2_5'Flank|NCOR1_uc002gpu.3_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	16					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		TCTTGGCATGGGGCTTCCTCT	0.612000														103			25		0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40939316	40939316	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40939316T>C	uc002ibj.3	+	6	1565	c.1497T>C	c.(1495-1497)tgT>tgC	p.C499C	WNK4_uc010wgx.2_Silent_p.C163C|WNK4_uc002ibk.1_Silent_p.C271C|WNK4_uc010wgy.1_5'UTR	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	499					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GCTTGGTCTGTGAAGCCGATT	0.577000														103			22		0	0	1	0	0
RAET1L	154064	broad.mit.edu	37	6	150343282	150343282	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150343282A>C	uc011eei.2	-	1	244	c.183T>G	c.(181-183)ttT>ttG	p.F61L		NM_130900	NP_570970	Q5VY80	RET1L_HUMAN	Homo sapiens retinoic acid early transcript 1L (RAET1L), mRNA.	61	MHC class I alpha-1 like (By similarity).				antigen processing and presentation|immune response	MHC class I protein complex|anchored to membrane				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CATAGTGAAGAAAAGTCTTTT	0.507000														181			39		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047793	9047793	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047793T>C	uc002mkp.3	-	4	34042	c.33838A>G	c.(33838-33840)Aca>Gca	p.T11280A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11282	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						CTTGAGGTTGTCCTGGGAAGA	0.463000														40			6		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91526692	91526692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91526692C>T	uc001xys.2	-	0	302	c.87G>A	c.(85-87)aaG>aaA	p.K29K	RPS6KA5_uc010twi.1_5'Flank|RPS6KA5_uc001xyt.3_Silent_p.K29K|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	29					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GCAGCTCGTGCTTGACAGTGA	0.761000														26			7		0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75309056	75309056	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75309056G>A	uc002azn.2	+	3	446	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	SCAMP5_uc002azl.2_Missense_Mutation_p.V87I|SCAMP5_uc002azm.2_Missense_Mutation_p.V87I|SCAMP5_uc002azk.2_Missense_Mutation_p.V87I|SCAMP5_uc010uly.2_Intron	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	87					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CTGCTCCTACGTCTGCTGGTT	0.587000														187			37		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8380302	8380302	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8380302G>A	uc002glm.3	-	41	5867	c.5771C>T	c.(5770-5772)gCg>gTg	p.A1924V	MYH10_uc002gll.3_Missense_Mutation_p.A1893V|MYH10_uc010cnx.3_Missense_Mutation_p.A1902V	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1893					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGCACGCGTCGCTTCTTCTTC	0.572000														106			24		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518405	64518405	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518405G>A	uc001xgl.3	+	47	8004	c.7774G>A	c.(7774-7776)Gat>Aat	p.D2592N	SYNE2_uc001xgm.3_Missense_Mutation_p.D2592N|SYNE2_uc021ruh.1_Missense_Mutation_p.D2625N	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2592					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GACTGACATGGATAAGAAATT	0.348000														71			16		0	0	1	0	0
GABARAPL1	23710	broad.mit.edu	37	12	10374440	10374440	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10374440T>C	uc001qxs.3	+	3	583	c.343T>C	c.(343-345)Tat>Cat	p.Y115H	GABARAPL1_uc001qxt.3_Non-coding_Transcript	NM_031412	NP_113600	Q9H0R8	GBRL1_HUMAN	Homo sapiens GABA(A) receptor-associated protein like 1 (GABARAPL1), mRNA.	115						Golgi apparatus|autophagic vacuole|endoplasmic reticulum|membrane|microtubule	GABA receptor binding|beta-tubulin binding			NS(1)|lung(1)	2						TGAGAGTGTCTATGGGAAATG	0.498000														62			17		0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19615452	19615452	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:19615452G>A	uc001ref.2	+	1	706	c.680G>A	c.(679-681)aGt>aAt	p.S227N	AEBP2_uc001ree.2_Missense_Mutation_p.S227N|AEBP2_uc001reg.1_5'UTR	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	227	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					AGCATAAGCAGTACTATAATG	0.343000														17			4		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176518013	176518013	+	Missense_Mutation	SNP	C	T	T	rs139464025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176518013C>T	uc003mfl.3	+	4	678	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	FGFR4_uc003mfm.3_Missense_Mutation_p.R171C|FGFR4_uc011dfu.2_Missense_Mutation_p.R171C|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_3'UTR|FGFR4_uc011dfw.1_Missense_Mutation_p.R171C|FGFR4_uc003mfo.3_Missense_Mutation_p.R171C	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CGTCAAGTTCCGCTGTCCAGC	0.612000										TSP Lung(9;0.080)				79			34		0	0	1	0	0
PDCL	5082	broad.mit.edu	37	9	125585390	125585390	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125585390G>T	uc004bmz.2	-	2	450	c.259C>A	c.(259-261)Ctg>Atg	p.L87M		NM_005388	NP_005379	Q13371	PHLP_HUMAN	Homo sapiens phosducin-like (PDCL), mRNA.	87					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						TTCTTGATCAGCCTTTCCATC	0.522000														267			58		1.45723e-30	1.83595e-30	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48259051	48259051	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259051G>A	uc003toq.2	+	3	412	c.388G>A	c.(388-390)Gac>Aac	p.D130N	ABCA13_uc003top.2_Missense_Mutation_p.D130N|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	130					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGAATGATGGACAAGGCAAA	0.423000														117			36		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115365537	115365537	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115365537C>A	uc001lal.3	-	33	4063	c.3899G>T	c.(3898-3900)gGa>gTa	p.G1300V	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.G1300V|NRAP_uc001lak.3_Missense_Mutation_p.G1265V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1300						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.G1300*(1)		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)		GGCTATATCTCCAGAGGCCCG	0.458000														570			133		5.77923e-69	7.38652e-69	1	1	0
GANAB	23193	broad.mit.edu	37	11	62393376	62393376	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62393376A>G	uc001nua.3	-	24	2845	c.2812T>C	c.(2812-2814)Tcc>Ccc	p.S938P	GANAB_uc001nub.3_Missense_Mutation_p.S916P|GANAB_uc001nuc.3_Missense_Mutation_p.S819P|GANAB_uc010rma.2_Missense_Mutation_p.S824P|GANAB_uc010rmb.2_Missense_Mutation_p.S802P	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	916					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCTGGAAGGACAGGCGGCTT	0.512000														104			11		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84459343	84459343	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84459343C>T	uc010chj.3	+	10	1011	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F	ATP2C2_uc002fhx.3_Missense_Mutation_p.L308F|ATP2C2_uc002fhy.3_Missense_Mutation_p.L325F|ATP2C2_uc002fhz.3_Missense_Mutation_p.L157F	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	308					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						TTCCCCAGGTCTCATCATGCT	0.502000														342			103		0	0	1	0	0
UBE2E1	7324	broad.mit.edu	37	3	23932089	23932089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:23932089G>A	uc003cch.3	+	5	803	c.574G>A	c.(574-576)Gct>Act	p.A192T	UBE2E1_uc003cci.3_Missense_Mutation_p.A175T|UBE2E1_uc021wua.1_Missense_Mutation_p.A159T	NM_003341	NP_003332	P51965	UB2E1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 1 (UBE2E1), transcript variant 1, mRNA.	192					ISG15-protein conjugation|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						CAAGAGATACGCTACATAAAT	0.453000														51			6		0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307409	14307409	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14307409C>T	uc022bdo.1	-	1	676	c.141G>A	c.(139-141)aaG>aaA	p.K47K	NFIB_uc003zlf.3_Silent_p.K47K|NFIB_uc003zle.3_Silent_p.K47K|NFIB_uc022bdp.1_Silent_p.K73K|NFIB_uc011lmo.2_Silent_p.K47K	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	47					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	p.E46E(1)		central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTGACATTCGCTTCTCATGCT	0.458000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									87			21		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31115709	31115709	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31115709T>C	uc009yjk.1	-	3	419	c.350A>G	c.(349-351)cAt>cGt	p.H117R	DCDC5_uc009yjl.1_Missense_Mutation_p.H45R|DCDC5_uc001msu.2_Missense_Mutation_p.H288R	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						AACAGAGGCATGAAGGACAAT	0.433000														120			36		0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19346246	19346246	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19346246G>T	uc003znq.3	+	17	2704	c.2624G>T	c.(2623-2625)aGg>aTg	p.R875M	DENND4C_uc011lnc.2_Missense_Mutation_p.R205M|DENND4C_uc011lnd.2_Missense_Mutation_p.R163M|DENND4C_uc003znr.3_Missense_Mutation_p.R163M|DENND4C_uc003zns.3_Missense_Mutation_p.R57M|DENND4C_uc003znt.3_Missense_Mutation_p.R57M	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	875						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTGATAGTAGGACTTGTATG	0.448000														162			41		1.07121e-22	1.32195e-22	1	1	0
BCS1L	617	broad.mit.edu	37	2	219527252	219527252	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219527252C>T	uc002vip.3	+	6	1085	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Silent_p.L247L|BCS1L_uc010fvu.3_Silent_p.L247L|BCS1L_uc010fvv.3_Silent_p.L247L|BCS1L_uc002vis.3_Silent_p.L247L|BCS1L_uc021vwz.1_Silent_p.L247L	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	247					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTGGGGAACTGGAGCACAG	0.627000														166			23		0	0	1	0	0
LOC643923	643923	broad.mit.edu	37	11	107462633	107462633	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107462633C>A	uc001pjo.1	+	0	163	c.150C>A	c.(148-150)agC>agA	p.S50R	ELMOD1_uc010rvs.2_Intron|ELMOD1_uc001pjm.3_Intron|ELMOD1_uc010rvt.2_Intron					Homo sapiens uncharacterized LOC643923 (LOC643923), non-coding RNA.														Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.61e-05)|Epithelial(105;0.000155)|all cancers(92;0.00283)		GCGCAGCGAGCTGGGAGGAGC	0.662000														22			7		2.0095e-06	2.13635e-06	1	1	0
APP	351	broad.mit.edu	37	21	27354787	27354787	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27354787G>T	uc002ylz.3	-	8	1294	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	APP_uc010glk.3_Missense_Mutation_p.P341H|APP_uc002yma.3_Missense_Mutation_p.P346H|APP_uc011ach.2_Missense_Mutation_p.P309H|APP_uc021whz.1_Missense_Mutation_p.P365H|APP_uc021wia.1_Missense_Mutation_p.P346H|APP_uc002ymb.3_Missense_Mutation_p.P290H|APP_uc010glj.3_Missense_Mutation_p.P234H|APP_uc021wib.1_Missense_Mutation_p.P290H|APP_uc011aci.2_Missense_Mutation_p.P255H	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	365					G2 phase of mitotic cell cycle|Notch signaling pathway|adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|innate immune response|ionotropic glutamate receptor signaling pathway|mRNA polyadenylation|mating behavior|neuron apoptosis|neuron remodeling|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	Golgi apparatus|axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|integral to plasma membrane|platelet alpha granule lumen	DNA binding|PTB domain binding|acetylcholine receptor binding|heparin binding|identical protein binding|metal ion binding|protein binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				TGCTGTTGTAGGAACTATAAA	0.418000														74			16		1.02788e-11	1.17486e-11	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93713536	93713536	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93713536G>T	uc001khr.3	+	5	705	c.607G>T	c.(607-609)Gga>Tga	p.G203*	BTAF1_uc009xua.1_Non-coding_Transcript|BTAF1_uc001khs.1_5'Flank	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	203					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTTTCGAGCAGGAATGAGCAA	0.363000														127			34		1.56442e-22	1.92865e-22	1	1	0
PNISR	25957	broad.mit.edu	37	6	99853950	99853950	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99853950T>C	uc003ppo.4	-	7	1187	c.959A>G	c.(958-960)cAc>cGc	p.H320R	PNISR_uc003ppp.4_Missense_Mutation_p.H320R|PNISR_uc011eag.2_Missense_Mutation_p.H320R	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	320						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						AGGGTCACTGTGCTCTTCTTG	0.388000														106			19		0	0	1	0	0
RHBDD2	57414	broad.mit.edu	37	7	75511175	75511175	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75511175C>T	uc003udw.1	+	1	291	c.207C>T	c.(205-207)gtC>gtT	p.V69V	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	69						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						ACATCTTTGTCTACGAGAATC	0.577000														242			46		0	0	1	0	0
GPS1	2873	broad.mit.edu	37	17	80012478	80012478	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80012478C>T	uc002kdk.1	+	3	941	c.521C>T	c.(520-522)gCg>gTg	p.A174V	RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Missense_Mutation_p.A138V|GPS1_uc010dij.1_Missense_Mutation_p.A174V|GPS1_uc002kdm.1_Missense_Mutation_p.A118V|GPS1_uc002kdn.1_Missense_Mutation_p.A134V|GPS1_uc010wvh.1_Missense_Mutation_p.A130V	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	138					JNK cascade|cell cycle|cullin deneddylation|inactivation of MAPK activity	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGAAGAAGGCGCTGCTGAAG	0.652000														46			13		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115263337	115263337	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115263337G>A	uc001efi.3	-	18	2534	c.2012_splice	c.e18-1	p.G671_splice	CSDE1_uc001efj.3_Splice_Site|CSDE1_uc001efk.3_Splice_Site_p.G625_splice|CSDE1_uc001efm.3_Splice_Site_p.G640_splice|CSDE1_uc009wgv.3_Splice_Site_p.G625_splice|CSDE1_uc001efl.3_Splice_Site_p.G594_splice|CSDE1_uc001efn.3_Splice_Site_p.G594_splice	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	625					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CTTTCATATCGCCTGTAAAAC	0.428000														93			19		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703398	48703398	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48703398C>T	uc001zwx.2	-	65	8800	c.8405G>A	c.(8404-8406)gGc>gAc	p.G2802D	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2802					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.D2801N(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTAAAGAAGCCATCTTCATT	0.423000														161			11		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175299240	175299240	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175299240G>T	uc001gkp.1	-	18	3844	c.3763C>A	c.(3763-3765)Ctc>Atc	p.L1255I	TNR_uc009wwu.1_Missense_Mutation_p.L1255I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1255	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.L1255R(1)|p.L1255L(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCTATGCGGAGTTTGTACAGG	0.602000														128			48		1.61004e-24	2.0018e-24	1	1	0
TPR	7175	broad.mit.edu	37	1	186307228	186307228	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186307228T>C	uc001grv.3	-	30	4596	c.4299A>G	c.(4297-4299)caA>caG	p.Q1433Q	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1433					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTTCTTAACTTGAGTAATAG	0.303000			T	NTRK1	papillary thyroid									34			9		0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140139905	140139905	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140139905G>T	uc004cmi.1	-	2	431	c.376C>A	c.(376-378)Ctg>Atg	p.L126M		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	Homo sapiens family with sequence similarity 166, member A (FAM166A), mRNA.	126										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CCTGCAGGCAGCAGAATCTGT	0.622000														284			12		2.27111e-07	2.44751e-07	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121568253	121568253	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121568253A>C	uc003vjy.3	+	1	497	c.102A>C	c.(100-102)gaA>gaC	p.E34D	PTPRZ1_uc011knt.2_Missense_Mutation_p.E34D|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E34D	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	34					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AACTTGTTGAAGAGATTGGCT	0.274000														143			27		0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96351995	96351995	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96351995G>T	uc009xuo.3	+	16	2020	c.1915G>T	c.(1915-1917)Gaa>Taa	p.E639*	HELLS_uc001kjs.3_Nonsense_Mutation_p.E577*|HELLS_uc001kjt.3_Nonsense_Mutation_p.E593*|HELLS_uc009xul.3_Nonsense_Mutation_p.E495*|HELLS_uc009xum.3_Nonsense_Mutation_p.E463*|HELLS_uc009xun.3_Nonsense_Mutation_p.E469*|HELLS_uc001kju.3_Nonsense_Mutation_p.E232*|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Nonsense_Mutation_p.E455*|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	593	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATCGATGAAGAATTGGTAAC	0.343000														53			10		7.48243e-07	8.00842e-07	1	1	0
POLH	5429	broad.mit.edu	37	6	43565513	43565513	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43565513A>G	uc003ovq.4	+	4	875	c.571A>G	c.(571-573)Acc>Gcc	p.T191A	POLH_uc010jyu.2_Missense_Mutation_p.T67A|POLH_uc011dvl.1_Non-coding_Transcript|POLH_uc003ovr.3_Missense_Mutation_p.T92A	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	Homo sapiens polymerase (DNA directed), eta (POLH), mRNA.	191	UmuC.				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTGCAGCTCACCGTGGGAGC	0.458000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum					110			25		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47459949	47459949	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47459949G>A	uc003crh.1	-	14	2448	c.2193C>T	c.(2191-2193)cgC>cgT	p.R731R	SCAP_uc011baz.1_Silent_p.R476R|SCAP_uc003crg.2_Silent_p.R339R	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	731	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GGCATAGCACGCGGTAGAGGC	0.716000														29			5		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46893834	46893834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46893834G>A	uc002zhi.3	+	2	1238	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	COL18A1_uc002zhg.3_Missense_Mutation_p.R226H	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	641	FZ.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGAAGGTGCGCAGGGACCCC	0.632000														19			7		0	0	1	0	0
BC024306	0	broad.mit.edu	37	19	37266959	37266959	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37266959C>T	uc002oet.3	+	0		c.270C>T								Homo sapiens cDNA FLJ34819 fis, clone NT2NE2008213.																		ACGAGACTAACGGCTGCGGCG	0.657000														22			8		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52896778	52896778	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52896778G>A	uc001cty.2	-	27	4871	c.4618C>T	c.(4618-4620)Cct>Tct	p.P1540S	ZCCHC11_uc001ctx.2_Missense_Mutation_p.P1539S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1539	Pro-rich.				RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATTGCCACAGGTCTGGCAGCA	0.557000														119			30		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793057	65793057	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793057C>T	uc001ogt.3	-	0	932	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	265	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						gtggtactcgctgtgatagtC	0.577000														32			9		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3800140	3800140	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3800140G>A	uc001lyh.3	-	3	739	c.318C>T	c.(316-318)aaC>aaT	p.N106N	NUP98_uc001lyi.3_Silent_p.N106N|NUP98_uc001lyj.2_Silent_p.N106N|NUP98_uc001lyk.2_Silent_p.N106N|NUP98_uc010qxv.2_Intron	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	106	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity	p.Q105K(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CAAAGGCATTGTTTTGGGATG	0.443000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									152			18		0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170592486	170592486	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170592486G>A	uc003qxm.3	-	8	2351	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	627					Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTCTTGTCGGCGCTGTGGT	0.607000														257			51		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2511088	2511088	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2511088G>A	uc002cqh.3	+	3	499	c.468G>A	c.(466-468)cgG>cgA	p.R156R	C16orf59_uc002cqg.2_5'UTR|C16orf59_uc002cqi.3_5'UTR|C16orf59_uc010uwb.2_5'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	156										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				CTGAGCGCCGGCTGCTGTCAG	0.697000														141			12		0	0	1	0	0
CENPW	387103	broad.mit.edu	37	6	126661536	126661536	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126661536T>C	uc003qao.3	+	0	284	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001012507	NP_001012525	Q5EE01	CENPW_HUMAN	Homo sapiens centromere protein W (CENPW), mRNA.	39						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						AGAAAAGTGGTGACTTATTGG	0.517000														118			26		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190301	79190301	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190301G>T	uc001vkw.1	-	5	1654	c.1595C>A	c.(1594-1596)gCt>gAt	p.A532D	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Missense_Mutation_p.A342D	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	532	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AAGGTAAGCAGCATCCATCGA	0.398000														178			32		6.38683e-12	7.32513e-12	1	1	0
DCT	1638	broad.mit.edu	37	13	95118886	95118886	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95118886C>A	uc010afh.3	-	2	1049	c.622G>T	c.(622-624)Gat>Tat	p.D208Y	DCT_uc001vlv.4_Missense_Mutation_p.D208Y	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	208					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TGTGAGAAATCTATGGCCCTG	0.413000														42			11		6.40141e-05	6.6609e-05	1	1	0
OBSL1	23363	broad.mit.edu	37	2	220431577	220431577	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220431577C>A	uc010fwk.3	-	4	2423	c.2109G>T	c.(2107-2109)caG>caT	p.Q703H	OBSL1_uc010fwl.2_Missense_Mutation_p.Q703H|OBSL1_uc002vmi.3_Missense_Mutation_p.Q703H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	703					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGCTGAGTCCTGCACGCCGG	0.597000														158			34		1.61788e-16	1.92999e-16	1	1	0
PCSK1	5122	broad.mit.edu	37	5	95746599	95746599	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95746599C>A	uc003kls.2	-	7	1213	c.974G>T	c.(973-975)aGc>aTc	p.S325I	PCSK1_uc010jbi.2_Intron|PCSK1_uc021ybq.1_Missense_Mutation_p.S278I	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	325	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGTGTAGATGCTGTCTGTGTA	0.577000														353			60		2.5401e-28	3.18824e-28	1	1	0
LEFTY2	7044	broad.mit.edu	37	1	226128787	226128787	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226128787G>A	uc001hpt.2	-	0	297	c.54C>T	c.(52-54)ccC>ccT	p.P18P	LEFTY2_uc010pvk.2_Silent_p.P18P|LEFTY2_uc009xek.2_Silent_p.P18P	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	18					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding	p.G17G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCCGCCCCGGGGCCAGCCA	0.711000														54			19		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28601432	28601432	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28601432C>A	uc001bps.3	+	7	1513	c.1117C>A	c.(1117-1119)Ctc>Atc	p.L373I		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	373					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCTATAGCCTCACCTACAA	0.557000														132			6		0.0215528	0.0217347	1	1	0
PKM2	5315	broad.mit.edu	37	15	72501087	72501087	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72501087A>G	uc002aty.2	-	5	995	c.711T>C	c.(709-711)gtT>gtC	p.V237V	PKM2_uc010bit.1_Silent_p.V242V|PKM2_uc010uki.2_Silent_p.V311V|PKM2_uc002atx.2_Silent_p.V237V|PKM2_uc002atw.2_Silent_p.V237V|PKM2_uc010ukj.2_Silent_p.V222V|PKM2_uc010ukk.2_Silent_p.V163V|PKM2_uc002atv.2_Silent_p.V272V|PKM2_uc010biu.1_Silent_p.V258V	NM_002654	NP_002645	P14618	KPYM_HUMAN	Homo sapiens pyruvate kinase, muscle (PKM2), transcript variant 1, mRNA.	237					glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|prostate(1)	13					Pyruvic acid(DB00119)	ACACCATATCAACATCCTGCT	0.502000														241			15		0	0	1	0	0
TMCO6	55374	broad.mit.edu	37	5	140023463	140023463	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140023463G>T	uc003lgm.3	+	8	1136	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V	TMCO6_uc003lgl.3_Silent_p.V339V|TMCO6_uc010jft.3_Silent_p.V99V|TMCO6_uc003lgn.3_Silent_p.V230V|TMCO6_uc003lgo.3_Silent_p.V99V	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	339					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTGTTGTGGCAGCCTTAT	0.537000														122			31		6.38683e-12	7.32513e-12	1	1	0
XDH	7498	broad.mit.edu	37	2	31560588	31560588	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31560588G>A	uc002rnv.1	-	34	3949	c.3870C>T	c.(3868-3870)aaC>aaT	p.N1290N		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1290					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)	GTTCCTTCACGTTATTACCTG	0.562000														154			48		0	0	1	0	0
MAPRE2	10982	broad.mit.edu	37	18	32681940	32681940	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32681940C>T	uc002kyg.3	+	3	607	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	MAPRE2_uc010xcb.2_Missense_Mutation_p.R100C|MAPRE2_uc010xcc.2_Missense_Mutation_p.R131C|MAPRE2_uc002kyf.2_Missense_Mutation_p.R143C|MAPRE2_uc002kyh.3_Missense_Mutation_p.R90C|MAPRE2_uc010xcd.2_Missense_Mutation_p.R100C	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	143	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						AGTGAAAGGACGTTTCCAGGA	0.398000														93			24		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78365490	78365490	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78365490G>A	uc001xui.3	+	5	729	c.630G>A	c.(628-630)atG>atA	p.M210I	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.M142I|ADCK1_uc001xuk.1_Missense_Mutation_p.M84I	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	217	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TTGAGTTTATGTGGCTTGTGG	0.502000														206			56		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227547	28227547	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227547C>T	uc003nkt.3	+	0	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537000														228			27		0	0	1	0	0
SNTB1	6641	broad.mit.edu	37	8	121706136	121706136	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121706136C>T	uc010mdg.3	-	1	810	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	SNTB1_uc003ype.3_Missense_Mutation_p.R195Q	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	195	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding	p.R195L(2)|p.R195P(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			CGTGGCTTCTCGCATGTACTT	0.483000														132			31		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91709392	91709392	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91709392C>T	uc003ulg.3	+	30	8170	c.7945C>T	c.(7945-7947)Cta>Tta	p.L2649L	AKAP9_uc003ulf.3_Silent_p.L2641L|AKAP9_uc003uli.3_Silent_p.L2272L|AKAP9_uc003ulj.3_Silent_p.L419L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2661	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTACAGAAGCTATTGGAGGG	0.308000			T	BRAF	papillary thyroid									53			15		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980453	75980453	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980453G>A	uc002baw.3	-	2	3046	c.2953C>T	c.(2953-2955)Cca>Tca	p.P985S		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	985	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCAACAAATGGGATATCATCT	0.577000														303			14		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88474333	88474333	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88474333G>A	uc002ssy.4	+	1	2090	c.399G>A	c.(397-399)aaG>aaA	p.K133K	THNSL2_uc002ssw.4_Silent_p.K133K|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_5'UTR|THNSL2_uc021vkq.1_Silent_p.K133K|THNSL2_uc021vkr.1_Silent_p.K133K	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	133					threonine biosynthetic process		threonine synthase activity	p.E132K(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGAGGGAGAAGCACGTCACTG	0.512000														147			37		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98340826	98340826	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98340826G>A	uc002syd.1	+	2	534	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZAP70_uc010yvf.1_Silent_p.E109E|ZAP70_uc002sye.1_5'Flank	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	109	Interdomain A.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CGGGCCTCGAGCCGCAGCCGG	0.711000														22			5		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4755101	4755101	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4755101C>T	uc002cxj.2	-	7	1158	c.863G>A	c.(862-864)cGc>cAc	p.R288H	ANKS3_uc002cxi.2_Missense_Mutation_p.R215H|ANKS3_uc021tcj.1_Missense_Mutation_p.R159H|ANKS3_uc021tck.1_Missense_Mutation_p.R181H|ANKS3_uc002cxk.3_Missense_Mutation_p.R159H|ANKS3_uc010uxs.2_Missense_Mutation_p.R215H|ANKS3_uc002cxm.3_Missense_Mutation_p.R82H	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	288										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CTCACCATAGCGAGGCCGTGG	0.597000														359			32		0	0	1	0	0
PRKAA2	5563	broad.mit.edu	37	1	57170116	57170116	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:57170116C>T	uc001cyk.4	+	6	1332	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*		NM_006252	NP_006243	P54646	AAPK2_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA.	421					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TGAAGTTTACCGAGCTATGAA	0.383000														123			22		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6848025	6848025	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6848025G>T	uc002mfu.1	+	22	2126	c.2029G>T	c.(2029-2031)Gag>Tag	p.E677*	VAV1_uc010xjh.1_Nonsense_Mutation_p.E645*|VAV1_uc010dva.1_Nonsense_Mutation_p.E655*|VAV1_uc002mfv.1_Nonsense_Mutation_p.E622*	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	677	SH2.				T cell costimulation|apoptosis|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|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGGCCCCATGGAGCGGGCAGG	0.602000														230			25		3.28513e-13	3.82035e-13	1	1	0
SHROOM4	57477	broad.mit.edu	37	X	50350432	50350432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50350432C>T	uc004dpe.2	-	5	3736	c.3710G>A	c.(3709-3711)gGc>gAc	p.G1237D	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1237	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CCCACCAATGCCATAGTAGCA	0.507000														94			17		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115385861	115385861	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115385861A>G	uc001lal.3	-	20	2353	c.2189T>C	c.(2188-2190)gTg>gCg	p.V730A	NRAP_uc009xyb.3_Missense_Mutation_p.V41A|NRAP_uc001laj.3_Missense_Mutation_p.V730A|NRAP_uc001lak.3_Missense_Mutation_p.V695A	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	730						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)		GCTGTCGGTCACGCTGGTGAA	0.577000														37			10		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170668042	170668042	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170668042T>C	uc003mba.3	+	22	2675	c.2533T>C	c.(2533-2535)Tat>Cat	p.Y845H	RANBP17_uc003mbb.3_Missense_Mutation_p.Y170H|RANBP17_uc003mbd.3_Missense_Mutation_p.Y208H|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	845					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGTGGAAATTATGTCAGCTT	0.453000			T	TRD@	ALL									235			57		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301000	26301000	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301000C>T	uc001bld.4	-	8	1080	c.900G>A	c.(898-900)caG>caA	p.Q300Q	PAFAH2_uc001ble.4_Silent_p.Q300Q	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	300					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)		ACTGTTCATGCTGGGCACATA	0.468000														61			11		0	0	1	0	0
DUSP12	11266	broad.mit.edu	37	1	161721475	161721475	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161721475G>A	uc001gbo.3	+	1	373	c.362G>A	c.(361-363)cGa>cAa	p.R121Q		NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	Homo sapiens dual specificity phosphatase 12 (DUSP12), mRNA.	121	Tyrosine-protein phosphatase.				positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGAGTCAGTCGAAGTGTGGCC	0.388000														140			32		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46771875	46771875	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46771875G>A	uc001ndi.2	-	41	5779	c.5653C>T	c.(5653-5655)Cgg>Tgg	p.R1885W	CKAP5_uc009ylg.1_Missense_Mutation_p.R1778W|CKAP5_uc001ndj.2_Missense_Mutation_p.R1825W|CKAP5_uc001ndh.1_Missense_Mutation_p.R814W	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1885					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding	p.R1885L(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAATCACCCGAAGGCCTCTT	0.413000														106			25		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23318771	23318771	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23318771A>G	uc002nrb.1	+	2		c.351A>G								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						TCAAAGCCAGACCTGATCACC	0.388000														103			23		0	0	1	0	0
OBP2A	29991	broad.mit.edu	37	9	138440528	138440528	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138440528G>A	uc004cgc.3	+	4	470	c.428G>A	c.(427-429)tGg>tAg	p.W143*	OBP2A_uc004cgb.3_Intron|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Silent_p.L98L			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	0					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCACCTTGGCTCACCTGG	0.597000														88			11		0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91360773	91360773	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91360773C>A	uc001xys.2	-	12	1843	c.1628G>T	c.(1627-1629)aGg>aTg	p.R543M	RPS6KA5_uc010twi.1_Missense_Mutation_p.R464M|RPS6KA5_uc001xyt.3_Missense_Mutation_p.R543M	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	543	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TTTCAGATCCCTGTGCACCAC	0.438000														117			8		0.000442599	0.000455268	1	1	0
SERPINF2	5345	broad.mit.edu	37	17	1652003	1652003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1652003G>A	uc002ftk.1	+	7	904	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SERPINF2_uc010vqr.1_Missense_Mutation_p.R212H|SERPINF2_uc021tnm.1_Missense_Mutation_p.R276H	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	276					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TACCCGCTGCGCTGGTTCTTG	0.622000														286			17		0	0	1	0	0
C11orf1	64776	broad.mit.edu	37	11	111753104	111753104	+	Missense_Mutation	SNP	G	A	A	rs139660891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111753104G>A	uc001pme.3	+	1	853	c.178G>A	c.(178-180)Gcc>Acc	p.A60T	ALG9_uc010rwo.2_5'Flank|FDXACB1_uc001pmc.4_5'Flank|FDXACB1_uc009yyi.3_5'Flank|C11orf1_uc001pmd.3_Missense_Mutation_p.A20T	NM_022761	NP_073598	Q9H5F2	CK001_HUMAN	Homo sapiens chromosome 11 open reading frame 1 (C11orf1), mRNA.	20						nucleus				kidney(2)|lung(3)	5		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281)		all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)		ACAGAACCTCGCCTGTTTCCT	0.428000														72			13		0	0	1	0	0
PLEKHB1	58473	broad.mit.edu	37	11	73372564	73372564	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73372564G>A	uc001oua.3	+	7	1080	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	PLEKHB1_uc001oub.3_Missense_Mutation_p.A182T|PLEKHB1_uc001ouc.3_Missense_Mutation_p.A198T|PLEKHB1_uc001oud.3_Missense_Mutation_p.A163T|PLEKHB1_uc009ytq.3_Missense_Mutation_p.A163T	NM_021200	NP_001123506	Q9UF11	PKHB1_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1 (PLEKHB1), transcript variant 1, mRNA.	217					multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CAGCGCCGGCGCCCCTCTGGC	0.682000											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		192			44		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158564142	158564142	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158564142C>A	uc003qrc.2	-	7	826	c.684G>T	c.(682-684)caG>caT	p.Q228H	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	228					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGTAAAATACTGGATACACT	0.393000														110			22		5.26018e-13	6.10868e-13	1	1	0
FLII	2314	broad.mit.edu	37	17	18150248	18150248	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18150248T>C	uc002gsr.1	-	21	2846	c.2795A>G	c.(2794-2796)gAc>gGc	p.D932G	FLII_uc002gsq.1_Missense_Mutation_p.D803G|FLII_uc010vxn.1_Missense_Mutation_p.D901G|FLII_uc010vxo.1_Missense_Mutation_p.D877G|FLII_uc002gss.1_Missense_Mutation_p.D931G	NM_002018	NP_002009	Q13045	FLII_HUMAN	Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.	932	Glu-rich.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GACGTAGCAGTCCTGCGTGTA	0.612000														159			24		0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85487850	85487850	+	Missense_Mutation	SNP	G	A	A	rs141743037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85487850G>A	uc001dkp.3	-	10	1370	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MCOLN3_uc001dko.3_Missense_Mutation_p.A27V|MCOLN3_uc001dkq.3_Missense_Mutation_p.A352V	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	408						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		ATTGGGCAGCGCTGCCTGAAG	0.468000														88			12		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28586953	28586953	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28586953A>G	uc002kwj.4	-	11	1963	c.1808T>C	c.(1807-1809)gTc>gCc	p.V603A	DSC3_uc002kwi.4_Missense_Mutation_p.V603A	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	603	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGCTCCATGGACAGGTTCATC	0.358000														72			13		0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567800	99567800	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:99567800G>A	uc003dtm.3	-	4	3183	c.2720C>T	c.(2719-2721)aCt>aTt	p.T907I	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.T907I|FILIP1L_uc010hpf.3_Missense_Mutation_p.T483I|FILIP1L_uc010hpg.3_Missense_Mutation_p.T667I|FILIP1L_uc003dtn.3_Missense_Mutation_p.T667I|FILIP1L_uc021xbr.1_Missense_Mutation_p.T667I|FILIP1L_uc003dtp.1_Missense_Mutation_p.T667I	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	907						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						ATGGTCTGGAGTAACCTTTAT	0.463000														333			72		0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055872	29055872	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29055872C>A	uc002kws.3	+	15	2758	c.2649C>A	c.(2647-2649)tcC>tcA	p.S883S	DSG3_uc002kwt.3_Silent_p.S165S	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	883					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGATTGAATCCTGTGGCCATC	0.473000														150			42		1.15183e-24	1.43276e-24	1	1	0
CCNL1	57018	broad.mit.edu	37	3	156866190	156866190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156866190G>A	uc003fbf.3	-	10	2020	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	CCNL1_uc003fbd.1_Intron|CCNL1_uc003fbe.3_Missense_Mutation_p.S268F|CCNL1_uc003fbg.3_Non-coding_Transcript|CCNL1_uc011bor.2_Non-coding_Transcript	NM_020307	NP_064703	Q9UK58	CCNL1_HUMAN	Homo sapiens cyclin L1 (CCNL1), mRNA.	474					RNA processing|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			CTTGCTCTGAGATCGAGAACG	0.453000														262			63		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139942032	139942032	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139942032G>A	uc021yeh.1	-	4	763	c.404C>T	c.(403-405)gCa>gTa	p.A135V	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Missense_Mutation_p.A135V|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.A135V|APBB3_uc021yeg.1_Missense_Mutation_p.A135V|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	135	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCCCCGGTGCCAGGTCCTC	0.582000														362			71		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73012016	73012016	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73012016C>T	uc003tyn.1	-	8	1147	c.1099G>A	c.(1099-1101)Gac>Aac	p.D367N	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.D367N|MLXIPL_uc003tym.1_Missense_Mutation_p.D367N|MLXIPL_uc003tyl.1_Missense_Mutation_p.D367N|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.D274N|MLXIPL_uc003tyq.1_Missense_Mutation_p.D109N	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	367					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCGCTGGAGTCCAAGGGGCCA	0.652000														78			6		0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255695	150255695	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150255695C>T	uc001euj.3	+	0	467	c.18C>T	c.(16-18)agC>agT	p.S6S	C1orf51_uc001euh.3_Silent_p.S6S|C1orf51_uc001eui.3_Intron	NM_144697	NP_653298	Q8N365	CA051_HUMAN	Homo sapiens chromosome 1 open reading frame 51 (C1orf51), mRNA.	6	Ser-rich.									endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCATCTAGCGTTTCTTCCT	0.512000														306			96		0	0	1	0	0
F12	2161	broad.mit.edu	37	5	176830605	176830605	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176830605C>A	uc003mgo.4	-	10	1313	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	PFN3_uc003mgl.2_5'Flank	NM_000505	NP_000496	P00748	FA12_HUMAN	Homo sapiens coagulation factor XII (Hageman factor) (F12), mRNA.	422	Peptidase S1.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCGTCAGATCCTCGGGTGCG	0.692000									Hereditary Angioedema					49			12		2.68362e-12	3.09043e-12	1	1	0
KCTD12	115207	broad.mit.edu	37	13	77460047	77460047	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77460047G>A	uc001vka.1	-	0	494	c.237C>T	c.(235-237)cgC>cgT	p.R79R	KCTD12_uc010aeu.1_Silent_p.R79R	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.	79						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		CCAGAAAGAAGCGGCCTTTGC	0.672000														47			12		0	0	1	0	0
LPAR5	57121	broad.mit.edu	37	12	6730346	6730346	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6730346G>A	uc009zer.2	-	1	350	c.69C>T	c.(67-69)cgC>cgT	p.R23R	LPAR5_uc001qps.2_Silent_p.R23R|LPAR5_uc010sff.1_Silent_p.R23R|LPAR5_uc021qub.1_Silent_p.R23R	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	23						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R23C(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						CCAAGTGCAGGCGGTGGGTAG	0.632000														37			6		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67429051	67429051	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67429051A>C	uc010vjm.2	-	9	1388	c.1084T>G	c.(1084-1086)Tgg>Ggg	p.W362G	TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	362						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TTTCTATCCCACTCCACCTGG	0.637000														53			14		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61543861	61543861	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61543861G>A	uc001nsc.1	+	9	1552	c.1456G>A	c.(1456-1458)Gct>Act	p.A486T	C11orf9_uc001nse.1_Missense_Mutation_p.A477T|C11orf9_uc010rll.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	486					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CGAGACCACCGCTAACAACAT	0.642000											OREG0021012	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			18		0	0	1	0	0
N4BP1	9683	broad.mit.edu	37	16	48587468	48587468	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48587468G>A	uc002efp.3	-	2	2239	c.2002C>T	c.(2002-2004)Cgt>Tgt	p.R668C		NM_153029	NP_694574	O75113	N4BP1_HUMAN	Homo sapiens NEDD4 binding protein 1 (N4BP1), mRNA.	668					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	PML body|nucleolus				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTAGGATCACGCCTTGTTCTC	0.363000														30			8		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6712565	6712565	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6712565G>A	uc002mfm.3	-	9	1135	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	358					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGGTGTCTTGGTGAAGTGGAT	0.612000														364			33		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883239	19883239	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883239G>A	uc010vav.2	-	1	1238	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	GPRC5B_uc021tef.1_Missense_Mutation_p.T302M|GPRC5B_uc002dgt.3_Missense_Mutation_p.T310M	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	310										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GGGCTGCGACGTGTCGAAGTA	0.617000														166			55		0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130949639	130949639	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130949639C>T	uc002tqv.3	-	4	1219	c.1118G>A	c.(1117-1119)cGg>cAg	p.R373Q		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	Homo sapiens tubulin, alpha 3e (TUBA3E), mRNA.	373					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCACACGGCCCGCTGCACCTT	0.607000														210			31		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197298117	197298117	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197298117T>C	uc001gtz.3	+	1	845	c.636T>C	c.(634-636)tgT>tgC	p.C212C	CRB1_uc010poz.2_Silent_p.C143C|CRB1_uc001gty.2_Silent_p.C212C|CRB1_uc009wza.3_Silent_p.C212C|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.C212C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	212	EGF-like 5; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTGTATCTGTCCCCACAATT	0.418000														51			22		0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27889827	27889827	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27889827G>A	uc002hed.2	-	1	1217	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C		NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	387						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CCTCCGTGGCGACTGAGCAGG	0.602000														146			22		0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32087337	32087337	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32087337G>A	uc003jhl.3	+	19	4171	c.3783G>A	c.(3781-3783)cgG>cgA	p.R1261R	PDZD2_uc003jhm.3_Silent_p.R1261R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1261					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAGTCAGTCGGCCAGAGAATC	0.637000														220			44		0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149638350	149638350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149638350G>A	uc011mxu.2	+	2	740	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	MAMLD1_uc011mxt.1_Missense_Mutation_p.V131M|MAMLD1_uc004fee.2_Missense_Mutation_p.V169M|MAMLD1_uc011mxv.2_Missense_Mutation_p.V144M|MAMLD1_uc011mxw.2_Missense_Mutation_p.V96M	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	169					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.V96L(1)|p.V144L(1)|p.V169L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AATCAACAGCGTGCCGGCTGT	0.478000														130			48		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81427610	81427610	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81427610G>T	uc002bgb.3	+	2	97	c.70_splice	c.e2-1	p.E24_splice	C15orf26_uc010blp.1_Splice_Site	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	24										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TTTCTGTTTAGGAGCTCATGA	0.343000														63			8		0.0381472	0.038366	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70605707	70605707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70605707C>T	uc002ezf.3	+	25	3856	c.3645C>T	c.(3643-3645)taC>taT	p.Y1215Y		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1215					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GGACCCGCTACGCCTTCTGAG	0.552000														106			29		0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29259479	29259479	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29259479G>A	uc010ezl.3	+	17	2842	c.2491G>A	c.(2491-2493)Gcc>Acc	p.A831T	FAM179A_uc010ymm.2_Missense_Mutation_p.A776T|FAM179A_uc002rmr.4_Missense_Mutation_p.A358T|FAM179A_uc002rms.1_Missense_Mutation_p.A129T	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	831							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGAGTCCTTCGCCAAGATGAT	0.498000														110			34		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21240602	21240602	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21240602A>C	uc002npj.3	+	4	1669	c.1488A>C	c.(1486-1488)caA>caC	p.Q496H	ZNF430_uc002npk.3_Missense_Mutation_p.Q495H	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						CTTTTAACCAATTCTCAAACC	0.363000														32			15		0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223496342	223496342	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223496342G>A	uc010zlq.1	-	8	862	c.827C>T	c.(826-828)aCg>aTg	p.T276M	FARSB_uc002vne.1_Missense_Mutation_p.T256M|FARSB_uc002vnf.1_Missense_Mutation_p.T157M	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	256					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity	p.T256M(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	GTCAGTTCCCGTGCATTCAAT	0.299000														95			19		0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857782	101857782	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857782G>A	uc022cbb.1	+	0	713	c.713G>A	c.(712-714)gGg>gAg	p.G238E	ARMCX5_uc004ejg.3_Missense_Mutation_p.G238E|ARMCX5_uc022caw.1_Missense_Mutation_p.G238E|ARMCX5_uc022cax.1_Missense_Mutation_p.G238E|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.G238E|ARMCX5_uc022cba.1_Missense_Mutation_p.G238E|ARMCX5_uc004ejh.3_Missense_Mutation_p.G238E	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	238							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTGAAGGAGGGGAGCAATCC	0.473000														110			27		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731589	16731589	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731589G>A	uc001ayn.3	-	7	1167	c.684C>T	c.(682-684)agC>agT	p.S228S	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Silent_p.S205S	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	228							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TCTCAAAGTAGCTGCGGAAGG	0.557000														100			12		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38962576	38962576	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38962576C>T	uc021wvy.1	-	5	1082	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	295					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.P294L(1)|p.P294P(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CCATAAGCTTCCGGGTTACTG	0.448000														411			84		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696901	11696901	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11696901T>C	uc002gne.3	+	41	8211	c.8143T>C	c.(8143-8145)Tat>Cat	p.Y2715H	DNAH9_uc010coo.3_Missense_Mutation_p.Y2009H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2715					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATCGAGTTTATCGGGATAA	0.398000														98			20		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24480696	24480696	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24480696C>T	uc002zzi.1	+	20	3202	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	CABIN1_uc021wnc.1_Silent_p.S975S|CABIN1_uc002zzj.1_Silent_p.S975S|CABIN1_uc002zzl.2_Silent_p.S1025S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1025					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGCCCTTAGCCTGGACAAAG	0.552000														116			30		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10996056	10996056	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10996056C>T	uc002yis.1	-	11		c.2130G>A						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAACAGAGCCTGAGGAATCT	0.378000														78			5		0	0	1	0	0
ALG13	79868	broad.mit.edu	37	X	110954908	110954908	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:110954908G>A	uc011msy.2	+	5	941	c.840G>A	c.(838-840)gtG>gtA	p.V280V	ALG13_uc011msw.2_Silent_p.V202V|ALG13_uc011msx.2_Silent_p.V176V|ALG13_uc011msz.2_Silent_p.V202V|ALG13_uc011mta.2_Silent_p.V176V|ALG13_uc011mtb.2_Silent_p.V176V	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	280	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						TGAAGTATGTGGAGGGATCTT	0.343000														23			7		0	0	1	0	0
RCAN1	1827	broad.mit.edu	37	21	35890400	35890400	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35890400C>T	uc002yue.3	-	3	813	c.741G>A	c.(739-741)acG>acA	p.T247T	RCAN1_uc002yuc.3_Silent_p.T166T|RCAN1_uc002yud.3_Silent_p.T112T|RCAN1_uc002yub.3_Silent_p.T192T	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	247					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGTGGATCGGCGTGTACTCCG	0.498000														280			17		0	0	1	0	0
FKBP8	23770	broad.mit.edu	37	19	18648447	18648447	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18648447C>T	uc002njk.1	-	5	1019	c.906G>A	c.(904-906)caG>caA	p.Q302Q	FKBP8_uc010xqi.1_Silent_p.Q331Q|FKBP8_uc002njj.1_Silent_p.Q303Q|FKBP8_uc021uqp.1_Silent_p.Q143Q	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	302					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.H302Y(1)|p.E301D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGTTGTCTGGCTGGTGCTCCA	0.637000														102			12		0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27061014	27061014	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27061014T>C	uc002hcp.3	+	1	61	c.61T>C	c.(61-63)Tgc>Cgc	p.C21R		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	21	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGTGCACCTGTGCCTGCGAAA	0.562000														70			13		0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	964313	964313	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:964313C>A	uc002lql.3	+	4	1122	c.832C>A	c.(832-834)Ctg>Atg	p.L278M		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	278	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGTACGTGCTGGTGACGGA	0.617000														75			18		1.56452e-12	1.80666e-12	1	1	0
GOLT1B	51026	broad.mit.edu	37	12	21659878	21659878	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21659878T>G	uc001rez.2	+	1	244	c.85T>G	c.(85-87)Ttt>Gtt	p.F29V	GOLT1B_uc009zis.2_Non-coding_Transcript|GOLT1B_uc009zit.2_Intron|GOLT1B_uc009ziu.2_Intron	NM_016072	NP_057156	Q9Y3E0	GOT1B_HUMAN	Homo sapiens golgi transport 1B (GOLT1B), mRNA.	29	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum|integral to membrane	signal transducer activity			large_intestine(2)|lung(3)	5						AATGATTCTCTTTTTTGACAA	0.274000														61			7		0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154184951	154184951	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154184951C>T	uc001fei.2	-	4	880	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	C1orf43_uc001feg.2_Missense_Mutation_p.A130T|C1orf43_uc001feh.2_Missense_Mutation_p.A112T|C1orf43_uc009wos.1_Missense_Mutation_p.A146T|C1orf43_uc001fek.3_Missense_Mutation_p.A164T	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	164						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATAGCGGGCTGTTTCATAG	0.488000														130			54		0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962746	94962746	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94962746T>C	uc001ydj.3	-	3	1665	c.869A>G	c.(868-870)gAc>gGc	p.D290G		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	290					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGAGAAAGTGTCCACCTGCAA	0.478000														183			33		0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27071139	27071139	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27071139C>T	uc002hcs.3	+	0	117	c.9C>T	c.(7-9)ggC>ggT	p.G3G	TRAF4_uc002hcq.1_Silent_p.G3G	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	3					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CCATGCCTGGCTTCGACTACA	0.746000														46			9		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37051929	37051929	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051929C>T	uc003jkl.4	+	40	7502	c.7003C>T	c.(7003-7005)Cgg>Tgg	p.R2335W	NIPBL_uc003jkk.4_Missense_Mutation_p.R2335W|NIPBL_uc003jkn.3_Missense_Mutation_p.R28W	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2335					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGCTATGCGGAACAAGGC	0.313000														77			14		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495386	161495386	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495386G>A	uc001gaq.3	+	0	1351	c.938G>A	c.(937-939)cGc>cAc	p.R313H	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	313					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GACCTCTTCCGCAGCACCCTG	0.632000														76			20		0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25818054	25818054	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25818054C>T	uc001bkk.3	+	9	1973	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	TMEM57_uc009vru.3_Missense_Mutation_p.R364W|TMEM57_uc009vrv.3_Missense_Mutation_p.R233W	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	591						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		p.R591W(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGATGCAAAGCGGCAGCTCGA	0.567000														80			7		0	0	1	0	0
LRP8	7804	broad.mit.edu	37	1	53716509	53716509	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53716509A>G	uc001cvi.2	-	16	2766	c.2529T>C	c.(2527-2529)agT>agC	p.S843S	LRP8_uc001cvh.2_Silent_p.S396S|LRP8_uc001cvj.2_Silent_p.S843S|LRP8_uc001cvk.2_Silent_p.S673S|LRP8_uc001cvl.2_Silent_p.S639S|LRP8_uc001cvm.1_Silent_p.S428S	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	843					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCAGGTATCCACTCATGCACA	0.498000														126			12		0	0	1	0	0
C1orf43	25912	broad.mit.edu	37	1	154185064	154185064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154185064G>A	uc001fei.2	-	4	767	c.377C>T	c.(376-378)tCc>tTc	p.S126F	C1orf43_uc001feg.2_Missense_Mutation_p.S92F|C1orf43_uc001feh.2_Missense_Mutation_p.S74F|C1orf43_uc009wos.1_Missense_Mutation_p.S108F|C1orf43_uc001fek.3_Missense_Mutation_p.S126F	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN	Homo sapiens chromosome 1 open reading frame 43 (C1orf43), transcript variant 3, mRNA.	126						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					GCCCATTAAGGAACGGGGATG	0.443000														106			8		0	0	1	0	0
CEMP1	752014	broad.mit.edu	37	16	2580903	2580903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2580903C>T	uc002cqr.3	-	0	507	c.172G>A	c.(172-174)Gcg>Acg	p.A58T	AMDHD2_uc010uwc.2_3'UTR|AMDHD2_uc010uwd.2_3'UTR	NM_001048212	NP_001041677	Q6PRD7	CEMP1_HUMAN	Homo sapiens cementum protein 1 (CEMP1), mRNA.	58						cytoplasm				lung(1)|skin(1)	2						TTGACGGCCGCGCACCCCTTA	0.662000														119			30		0	0	1	0	0
MRPL51	51258	broad.mit.edu	37	12	6601500	6601500	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6601500G>A	uc001qom.2	-	2	493	c.324C>T	c.(322-324)caC>caT	p.H108H	NCAPD2_uc009zen.1_5'Flank|NCAPD2_uc001qoo.2_5'Flank|NCAPD2_uc010sfd.1_5'Flank	NM_016497	NP_057581	Q4U2R6	RM51_HUMAN	Homo sapiens mitochondrial ribosomal protein L51 (MRPL51), nuclear gene encoding mitochondrial protein, mRNA.	108					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TATTAAGGTTGTGCAGGTCAT	0.448000														282			57		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895700	90895700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895700G>A	uc003ula.3	+	0	1918	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	502					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.G502C(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTTTATCGGCACGTCCTTT	0.602000														371			104		0	0	1	0	0
FLVCR2	55640	broad.mit.edu	37	14	76108229	76108229	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76108229A>G	uc001xrs.2	+	8	1873	c.1497A>G	c.(1495-1497)gaA>gaG	p.E499E	FLVCR2_uc010tvd.1_Silent_p.E294E	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	499					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		CAAACAAAGAAACTCTTGAGA	0.453000														129			37		0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14109100	14109100	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14109100T>G	uc001avi.3	+	7	5666	c.4810T>G	c.(4810-4812)Tcc>Gcc	p.S1604A	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.S1604A|PRDM2_uc001avk.3_Missense_Mutation_p.S1403A|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1604						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCTCAGCTTTCCAGCAAAAC	0.453000														111			10		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	881707	881707	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:881707C>T	uc021zym.1	+	2	411	c.391C>T	c.(391-393)Cgg>Tgg	p.R131W	SUN1_uc021zyl.1_Missense_Mutation_p.R131W|SUN1_uc010ksa.1_Missense_Mutation_p.R152W|SUN1_uc003sje.1_Missense_Mutation_p.R131W|SUN1_uc011jvq.2_Missense_Mutation_p.R131W|SUN1_uc003sjf.3_Missense_Mutation_p.R81W|SUN1_uc003sjg.3_5'Flank	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	131	LMNA-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTGACTCGACGGCCTCCTGT	0.557000														108			18		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899058	175899058	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175899058G>T	uc003iuc.3	+	4	3052	c.2382G>T	c.(2380-2382)caG>caT	p.Q794H	ADAM29_uc003iud.3_Missense_Mutation_p.Q794H|ADAM29_uc010irr.3_Missense_Mutation_p.Q794H|ADAM29_uc011cki.2_Missense_Mutation_p.Q794H|ADAM29_uc021xuo.1_Missense_Mutation_p.Q794H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	794	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CGCCTTCCCAGAGTCAACCTC	0.572000														258			42		2.2871e-25	2.8511e-25	1	1	0
STEAP3	55240	broad.mit.edu	37	2	120003362	120003362	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120003362C>T	uc002tlp.3	+	2	447	c.290C>T	c.(289-291)tCt>tTt	p.S97F	STEAP3_uc002tlq.3_Missense_Mutation_p.S107F|STEAP3_uc002tlr.3_Missense_Mutation_p.S97F|STEAP3_uc010fle.3_Missense_Mutation_p.S97F	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	Homo sapiens STEAP family member 3, metalloreductase (STEAP3), transcript variant 2, mRNA.	97					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GAGCACTACTCTTCACTGTGC	0.572000														68			26		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54814949	54814949	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54814949G>A	uc004dtj.2	-	4	780	c.750C>T	c.(748-750)taC>taT	p.Y250Y		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	250					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGACCACATCGTACTGAACCA	0.572000														88			16		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58084521	58084521	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58084521A>G	uc003djj.2	+	7	1396	c.1231A>G	c.(1231-1233)Aac>Gac	p.N411D	FLNB_uc010hne.2_Missense_Mutation_p.N411D|FLNB_uc003djk.2_Missense_Mutation_p.N411D|FLNB_uc010hnf.2_Missense_Mutation_p.N411D|FLNB_uc003djl.2_Missense_Mutation_p.N242D|FLNB_uc003djm.2_Missense_Mutation_p.N242D	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	411					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGACAAAGGAAACCAGGTGTA	0.522000														177			10		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40048575	40048575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40048575C>T	uc002hyg.3	-	15	1890	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	ACLY_uc002hyh.3_Missense_Mutation_p.R566H|ACLY_uc002hyi.3_Missense_Mutation_p.R630H|ACLY_uc010wfx.2_Missense_Mutation_p.R620H|ACLY_uc010wfy.2_Missense_Mutation_p.R305H	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	576					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATAGGCAGAGCGGAGAGAGGC	0.552000														87			18		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10401761	10401761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10401761G>A	uc003bvt.3	-	12	2145	c.1706C>T	c.(1705-1707)aCg>aTg	p.T569M	ATP2B2_uc003bvv.3_Missense_Mutation_p.T524M|ATP2B2_uc003bvw.3_Missense_Mutation_p.T524M|ATP2B2_uc010hdo.3_Missense_Mutation_p.T274M	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	569					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCGCACTCCGTCTTGTTGCC	0.647000														158			35		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214819626	214819626	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214819626G>A	uc001hkm.3	+	12	6887	c.6713G>A	c.(6712-6714)aGt>aAt	p.S2238N		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2334	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATTTAAAAGTCTGTTAGAA	0.358000														104			16		0	0	1	0	0
OR6C1	390321	broad.mit.edu	37	12	55714983	55714983	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55714983T>G	uc010spi.2	+	0	600	c.600T>G	c.(598-600)tgT>tgG	p.C200W		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GATTTTCTTGTGCTGCGTTTA	0.348000														47			12		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103566837	103566837	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103566837G>A	uc001ymk.3	+	0	357	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	94										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						CTGAATGACGGCCCAGCTACC	0.642000														56			18		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847305	49847305	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847305C>T	uc003cxr.3	-	14	2018	c.1847G>A	c.(1846-1848)cGg>cAg	p.R616Q		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	616					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AAACTCATGCCGGGCCCACTG	0.582000														221			31		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27835000	27835000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27835000C>T	uc003njx.3	-	0	360	c.308G>A	c.(307-309)gGt>gAt	p.G103D		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	103	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCCAGAAGCACCAGTGCCCTT	0.607000														393			76		0	0	1	0	0
BPIFC	254240	broad.mit.edu	37	22	32843277	32843277	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32843277G>T	uc003amn.2	-	2	296	c.296C>A	c.(295-297)cCt>cAt	p.P99H	BPIFC_uc010gwo.2_5'UTR|BPIFC_uc011amb.1_5'UTR	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN	Homo sapiens BPI fold containing family C (BPIFC), mRNA.	99						extracellular region	lipopolysaccharide binding|phospholipid binding										TCCCACTCCAGGCACAAAAGC	0.448000														120			21		2.37509e-13	2.76693e-13	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118484538	118484538	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118484538G>T	uc010jcl.1	+	17	3197	c.3016G>T	c.(3016-3018)Gat>Tat	p.D1006Y	DMXL1_uc003ksd.2_Missense_Mutation_p.D1006Y|DMXL1_uc021ycw.1_Missense_Mutation_p.D833Y	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1006										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAGAGTAACAGATGGAGAATC	0.383000														132			34		4.34311e-12	4.98405e-12	1	1	0
HIPK1	204851	broad.mit.edu	37	1	114483457	114483457	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114483457C>A	uc001eem.3	+	1	613	c.452C>A	c.(451-453)aCt>aAt	p.T151N	HIPK1_uc001eel.3_Missense_Mutation_p.T151N|HIPK1_uc001een.3_Missense_Mutation_p.T151N	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAACAGGACTGTGGTGGGT	0.493000														84			25		2.39556e-15	2.83283e-15	1	1	0
ZNF273	10793	broad.mit.edu	37	7	64389058	64389058	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389058T>G	uc003tto.3	+	3	1428	c.1352T>G	c.(1351-1353)aTt>aGt	p.I451S	ZNF273_uc003ttl.3_Missense_Mutation_p.I386S|ZNF273_uc003ttn.3_Missense_Mutation_p.I386S	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CATAAGATAATTCATACTGGA	0.348000														47			14		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88799241	88799241	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88799241C>T	uc002bme.2	-	2	450	c.144G>A	c.(142-144)ccG>ccA	p.P48P	NTRK3_uc002bmh.2_Silent_p.P48P|NTRK3_uc002bmf.2_Silent_p.P48P|NTRK3_uc021sua.1_Silent_p.P48P|NTRK3_uc010bnh.1_Silent_p.P48P|NTRK3_uc002bmg.3_Silent_p.P48P|LOC283738_uc021sub.1_Intron	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	48					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCCATCGTCCGGCCGCCGGC	0.547000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				170			39		0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75763911	75763911	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75763911C>T	uc001sxo.3	+	5	730	c.684C>T	c.(682-684)gcC>gcT	p.A228A	CAPS2_uc001sxm.3_Intron|CAPS2_uc009zsa.2_Intron|GLIPR1L1_uc001sxn.3_Silent_p.A219A	NM_152779	NP_689992	Q6UWM5	GPRL1_HUMAN	Homo sapiens GLI pathogenesis-related 1 like 1 (GLIPR1L1), mRNA.	228						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						AGCAGACAGCCTTTAATCCAT	0.313000														60			11		0	0	1	0	0
CD63	967	broad.mit.edu	37	12	56121030	56121030	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56121030G>A	uc001shn.3	-	2	345	c.160C>T	c.(160-162)Cca>Tca	p.P54S	CD63_uc009znz.3_Missense_Mutation_p.P31S|CD63_uc001sho.3_Missense_Mutation_p.P54S	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	54					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATGACCACTGGCAACAGAGAG	0.577000														229			61		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6007343C>T	uc001mcd.2	-	0	873	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512000														119			22		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303919	45303919	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45303919C>T	uc003jok.3	-	5	1425	c.1400G>A	c.(1399-1401)cGg>cAg	p.R467Q		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	467						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCAGTTTCCGACAGTTGAA	0.358000														112			30		0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609630	73609630	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73609630C>T	uc003uad.1	+	6	747	c.739C>T	c.(739-741)Caa>Taa	p.Q247*	EIF4H_uc003uae.1_Nonsense_Mutation_p.Q227*	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	247					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCAAAAGGAGCAAGAATGAGC	0.607000														98			13		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228837	47228837	+	Silent	SNP	G	A	A	rs145271240	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228837G>A	uc002pfm.3	-	9	1371	c.1338C>T	c.(1336-1338)gaC>gaT	p.D446D	STRN4_uc002pfl.3_Silent_p.D439D|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	439						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AACGAATGCCGTCGTAGTGCG	0.612000														102			14		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508579	24508579	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24508579T>C	uc001iru.4	+	1	498	c.95T>C	c.(94-96)gTa>gCa	p.V32A	KIAA1217_uc001irs.3_5'UTR|KIAA1217_uc001irt.4_Missense_Mutation_p.V32A|KIAA1217_uc010qcy.2_Missense_Mutation_p.V32A|KIAA1217_uc010qcz.2_Missense_Mutation_p.V32A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	32					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATCTGCATGTAACATCACCA	0.428000														38			16		0	0	1	0	0
RNF219	79596	broad.mit.edu	37	13	79190435	79190435	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79190435C>T	uc001vkw.1	-	5	1520	c.1461G>A	c.(1459-1461)acG>acA	p.T487T	BX647243_uc001vku.1_Non-coding_Transcript|RNF219_uc010afb.1_Silent_p.T297T	NM_024546	NP_078822	Q5W0B1	RN219_HUMAN	Homo sapiens ring finger protein 219 (RNF219), mRNA.	487	Ser-rich.						zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		AATTTGCTATCGTGTTCCCCT	0.363000														82			9		0	0	1	0	0
RAB13	5872	broad.mit.edu	37	1	153956050	153956050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153956050C>T	uc001fdt.1	-	2	287	c.193G>A	c.(193-195)Gct>Act	p.A65T	RAB13_uc001fdu.1_Missense_Mutation_p.A65T	NM_002870	NP_002861	P51153	RAB13_HUMAN	Homo sapiens RAB13, member RAS oncogene family (RAB13), mRNA.	65					cell adhesion|protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	cytoplasmic vesicle membrane|tight junction	GTP binding|GTPase activity			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTTGGCCAGCCGTGTCCCTA	0.443000														64			14		0	0	1	0	0
GOLGA8IP	283796	broad.mit.edu	37	15	23261073	23261073	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23261073G>A	uc001yvh.1	+	8	1047	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	DQ600342_uc001yvi.3_5'Flank|DQ582939_uc021sfm.1_5'Flank|DQ578838_uc021sfn.1_5'Flank|DQ588973_uc001yvl.3_5'Flank					Homo sapiens golgin A8 family, member I, pseudogene (GOLGA8IP), non-coding RNA.											endometrium(1)|lung(2)|prostate(1)	4						AGGAGAGAGGGCCCGGTGGCA	0.478000														185			35		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153038807	153038807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153038807G>A	uc010nuk.2	+	18	3369	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	PLXNB3_uc004fii.2_Missense_Mutation_p.R1010H|PLXNB3_uc011mzd.1_Missense_Mutation_p.R649H|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1010	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTTCCGCTACACCGCC	0.692000														49			10		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134021520	134021520	+	Missense_Mutation	SNP	A	G	G	rs142397246		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134021520A>G	uc004cag.3	+	12	1885	c.1774A>G	c.(1774-1776)Act>Gct	p.T592A	NUP214_uc004cah.3_Intron|NUP214_uc004cai.3_Missense_Mutation_p.T21A|NUP214_uc004caf.1_Intron|NUP214_uc010mzf.3_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	592	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTCAGGTTTACTGCTGCAGC	0.483000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									471			59		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117742	117742	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000205.1:117742G>A	uc002kgk.4	+	0		c.1120G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CATCGGCTTCGGTCGCACGCA	0.602000														155			12		0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139890402	139890402	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139890402G>A	uc003yvd.3	-	2	696	c.249C>T	c.(247-249)agC>agT	p.S83S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	83	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGGGCCGGTCGCTGTAGCGCA	0.677000										HNSCC(7;0.00092)				26			6		0	0	1	0	0
IDO1	3620	broad.mit.edu	37	8	39780089	39780089	+	Silent	SNP	C	T	T	rs115833371	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39780089C>T	uc003xnm.3	+	5	570	c.456C>T	c.(454-456)ttC>ttT	p.F152F		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	152					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACGTTTTGTTCTCATTTCGTG	0.373000														52			16		0	0	1	0	0
TFDP1	7027	broad.mit.edu	37	13	114288234	114288234	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114288234C>T	uc001vtw.3	+	6	716	c.504C>T	c.(502-504)cgC>cgT	p.R168R	TFDP1_uc010tkd.2_Silent_p.R73R|TFDP1_uc010tke.2_Silent_p.R73R|TFDP1_uc001vty.4_Silent_p.R168R|TFDP1_uc010agx.3_Silent_p.R168R	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	168					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R168H(2)|p.R167Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TAAGACGGCGCGTCTACGATG	0.488000										TSP Lung(29;0.18)				178			28		0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24859587	24859587	+	Silent	SNP	C	T	T	rs34116411	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24859587C>T	uc021ojc.1	+	3	556	c.384C>T	c.(382-384)ggC>ggT	p.G128G	RCAN3_uc021ojd.1_Silent_p.G3G|RCAN3_uc021oje.1_Silent_p.G128G|RCAN3_uc001bjj.3_Silent_p.G128G|RCAN3_uc009vre.3_Silent_p.G70G|RCAN3_uc021ojf.1_Silent_p.G3G|RCAN3_uc021ojg.1_Silent_p.G128G|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Intron|RCAN3_uc009vrf.3_Intron	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	128					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGATGTCCGGCGAAGTGCGGG	0.562000														56			11		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42788611	42788611	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42788611G>A	uc002xli.1	-	1	1689	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	272					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCTCGTCGGCGCCCTCGGCGG	0.687000														48			8		0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27645271	27645271	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27645271G>A	uc001uqy.3	-	7	1205	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	316					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R315Q(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CAATATAATGGCCTCGATTGG	0.274000														65			7		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94668169	94668169	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94668169G>A	uc001dqj.4	-	10	1443	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dql.3_Silent_p.G358G	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	358					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGCTAATCCGCCACTTGAAG	0.373000														145			37		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8108314	8108314	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8108314C>T	uc003gko.3	-	1	204	c.61G>A	c.(61-63)Gcg>Acg	p.A21T	ABLIM2_uc003gkm.4_Missense_Mutation_p.A21T|ABLIM2_uc003gkp.3_Missense_Mutation_p.A21T|ABLIM2_uc003gkq.3_Missense_Mutation_p.A21T|ABLIM2_uc003gkr.3_Missense_Mutation_p.A21T|ABLIM2_uc003gkj.4_Missense_Mutation_p.A21T|ABLIM2_uc003gks.3_Missense_Mutation_p.A21T|ABLIM2_uc011bwl.1_Missense_Mutation_p.A26T	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	21					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CACAGGATCGCCGTGCTGGGC	0.592000														42			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8999547	8999547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8999547G>A	uc002mkp.3	-	55	40832	c.40628C>T	c.(40627-40629)gCa>gTa	p.A13543V	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.A360V|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13545	SEA 10.			Missing (in Ref. 3; AAK74120).	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						TTTGGTGGCTGCCCCATCCTT	0.597000														136			38		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77631357	77631357	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77631357C>T	uc011cbx.2	+	2	1325	c.372C>T	c.(370-372)ttC>ttT	p.F124F	SHROOM3_uc011cbz.1_5'UTR	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	124					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCTAACTTCGTCAGCCCAG	0.537000														123			33		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87970351	87970351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87970351G>A	uc003plm.4	+	7	7045	c.7004G>A	c.(7003-7005)cGa>cAa	p.R2335Q		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAGACCAAACGAAAGAAAAAA	0.358000														43			9		0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1866938	1866938	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1866938C>T	uc002cna.3	-	6	1110	c.703G>A	c.(703-705)Gag>Aag	p.E235K	HAGH_uc002cmz.3_Missense_Mutation_p.E187K|HAGH_uc010uvp.2_Nonsense_Mutation_p.W198*	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	235					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	TTGCCGGGCTCCACGTGGCGT	0.627000														90			19		0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343147	54343147	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54343147A>G	uc003hag.4	-	9	1920	c.1664_splice	c.e9-1	p.G555_splice	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Splice_Site_p.G459_splice|LNX1_uc003hah.4_Splice_Site	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	555	PDZ 3.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACAAAATGTCACCTGATGGCC	0.483000														165			31		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41410595	41410595	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41410595C>T	uc001rmm.1	+	18	2409	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	CNTN1_uc001rmn.1_Nonsense_Mutation_p.R755*	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	766	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGATACTGGCCGATATGTCCA	0.403000														102			24		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110882581	110882581	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110882581C>T	uc001dzl.1	+	0	637	c.554C>T	c.(553-555)gCg>gTg	p.A185V	RBM15_uc001dzm.1_Missense_Mutation_p.A185V|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Missense_Mutation_p.A185V	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	185	RRM 1.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTGACGAAGCGGTGGAGGAC	0.597000			T	MKL1	acute megakaryocytic leukemia						OREG0013656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		179			30		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41900458	41900458	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41900458G>T	uc010skn.2	+	3	1052	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	PDZRN4_uc001rmq.4_Missense_Mutation_p.K90N|PDZRN4_uc009zjz.3_Missense_Mutation_p.K88N|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	348							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTCTGGCCAAGCTTCGTCCAC	0.488000														123			23		6.44725e-10	7.21145e-10	1	1	0
KSR1	8844	broad.mit.edu	37	17	25909842	25909842	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25909842T>C	uc010crg.3	+	4	725	c.280T>C	c.(280-282)Tca>Cca	p.S94P	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	229					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CATCTCCGTGTCAGCTCTGCC	0.706000														91			24		0	0	1	0	0
RAD23B	5887	broad.mit.edu	37	9	110084292	110084292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110084292C>T	uc004bde.3	+	6	1104	c.710C>T	c.(709-711)gCt>gTt	p.A237V	RAD23B_uc011lwa.2_Missense_Mutation_p.A237V|RAD23B_uc022blj.1_Missense_Mutation_p.A165V|RAD23B_uc011lwb.2_Missense_Mutation_p.A216V	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	237					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	XPC complex|cytoplasm|nucleoplasm|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAAGTCAGGCTGTGGTTGAC	0.433000								Direct reversal of damage;Nucleotide excision repair (NER)						52			15		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139943436	139943436	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139943436G>A	uc021yeh.1	-	1	473	c.114C>T	c.(112-114)atC>atT	p.I38I	APBB3_uc003lgb.1_5'Flank|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Silent_p.I38I|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Silent_p.I38I|APBB3_uc021yeg.1_Silent_p.I38I|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|APBB3_uc010jfr.1_Silent_p.I38I|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	38	WW.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCATCGTGGATCTTCCTCC	0.597000														86			17		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95871751	95871751	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95871751G>A	uc003yhb.3	+	15	2093	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	INTS8_uc003yha.1_Missense_Mutation_p.R656H|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.R483H	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	656					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ATTCCTCTTCGTCAAGTTATA	0.343000														41			6		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75967644	75967644	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75967644C>T	uc003kek.3	+	23	3126	c.2904C>T	c.(2902-2904)gtC>gtT	p.V968V	IQGAP2_uc010izv.2_Silent_p.V521V|IQGAP2_uc011csv.2_Silent_p.V464V|IQGAP2_uc003kel.3_Silent_p.V464V|IQGAP2_uc010izw.1_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	968	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TCAAGATGGTCGTCAGCTTCA	0.468000														88			25		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17352928	17352928	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17352928C>T	uc002dfa.3	-	2	915	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	277					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AATCTCCTGGCGGCAGTGCTT	0.607000														189			39		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610461	136610461	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610461G>A	uc002tuw.3	-	11	1727	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	551	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding	p.R551H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TCTACTATGCGCCTGGCAATG	0.363000														54			21		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44074024	44074024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44074024G>A	uc003bdy.2	-	12	1585	c.1271C>T	c.(1270-1272)aCa>aTa	p.T424I	EFCAB6_uc003bdz.2_Missense_Mutation_p.T272I|EFCAB6_uc010gzi.2_Missense_Mutation_p.T272I|EFCAB6_uc010gzk.1_Non-coding_Transcript|EFCAB6_uc011aqa.2_3'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	424	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCTTCTCTTGTTATCGGTCC	0.343000														54			18		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139299093	139299093	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139299093C>A	uc003vvf.4	-	7	2200	c.1929G>T	c.(1927-1929)caG>caT	p.Q643H	HIPK2_uc003vvd.4_Missense_Mutation_p.Q616H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	643	Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGGCACAAATCTGGGCTGTTC	0.587000														47			12		6.40141e-05	6.6609e-05	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38803860	38803860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38803860C>T	uc001zke.4	-	7	1089	c.911G>A	c.(910-912)aGc>aAc	p.S304N	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Missense_Mutation_p.S166N|RASGRP1_uc010bbg.3_Missense_Mutation_p.S166N|RASGRP1_uc001zkd.4_Missense_Mutation_p.S304N	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	304	Ras-GEF.				Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		CGAGATTGAGCTGTGACACAG	0.488000														88			24		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99883713	99883713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99883713G>A	uc003ppx.2	-	17	2857	c.2324C>T	c.(2323-2325)gCg>gTg	p.A775V	USP45_uc003ppv.2_Non-coding_Transcript|USP45_uc003ppw.2_Missense_Mutation_p.A455V	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	775					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		ATTATCAGCCGCTTTCAAACC	0.368000														87			15		0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494232	55494232	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55494232C>T	uc021vbq.1	+	5	1277	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NLRP2_uc010yfp.2_Missense_Mutation_p.A366V|NLRP2_uc002qij.3_Missense_Mutation_p.A389V|NLRP2_uc010esp.3_Missense_Mutation_p.A367V|NLRP2_uc010esn.3_Missense_Mutation_p.A365V|NLRP2_uc010eso.3_Missense_Mutation_p.A386V	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	389	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGAGCAACGCGGCCCTGTTC	0.632000														107			24		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109156033	109156033	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109156033G>T	uc003kou.1	+	14	3404	c.2441G>T	c.(2440-2442)gGt>gTt	p.G814V		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	814					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTACCTGATGGTAATGCCAAG	0.343000														69			11		3.86212e-05	4.026e-05	1	1	0
AK302879	0	broad.mit.edu	37	15	76075187	76075187	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76075187G>T	uc010umm.1	+	9	827	c.750G>T	c.(748-750)caG>caT	p.Q250H	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank|DQ582208_uc021sqs.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		GGCACCCCCAGCAGTGACCTC	0.552000														88			13		2.27111e-07	2.44751e-07	1	1	0
DCAF11	80344	broad.mit.edu	37	14	24587623	24587623	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24587623C>T	uc001wlv.3	+	6	884	c.604C>T	c.(604-606)Cga>Tga	p.R202*	DCAF11_uc001wlw.3_Nonsense_Mutation_p.R202*|DCAF11_uc001wlz.3_Nonsense_Mutation_p.R102*|DCAF11_uc001wly.3_Nonsense_Mutation_p.R158*|DCAF11_uc010tny.2_Nonsense_Mutation_p.R69*|DCAF11_uc001wmc.3_Nonsense_Mutation_p.R102*|DCAF11_uc001wmb.4_Nonsense_Mutation_p.R176*|DCAF11_uc001wma.4_Nonsense_Mutation_p.R202*	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	202						CUL4 RING ubiquitin ligase complex	protein binding										CTATGACTGCCGATATGGCCG	0.488000														185			47		0	0	1	0	0
CCP110	9738	broad.mit.edu	37	16	19551989	19551989	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19551989G>T	uc002dgl.4	+	4	2176	c.1929G>T	c.(1927-1929)gaG>gaT	p.E643D	CCP110_uc002dgk.4_Missense_Mutation_p.E643D	NM_001199022	NP_001185951	O43303	CP110_HUMAN	Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA.	643					G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						AAAGCGAGGAGTTACTAAAAA	0.358000														44			4		1	1	1	1	0
BMP15	9210	broad.mit.edu	37	X	50659581	50659581	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50659581A>G	uc011mnw.2	+	1	1202	c.1153A>G	c.(1153-1155)Att>Gtt	p.I385V		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	385					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TGAGGGTATGATTGCTGAGTC	0.443000														142			10		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585624	7585624	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7585624C>T	uc003mxp.1	+	23	8408	c.8129C>T	c.(8128-8130)gCa>gTa	p.A2710V	DSP_uc003mxq.1_Missense_Mutation_p.A2111V|DSP_uc021yle.1_Missense_Mutation_p.A2267V	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2710	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)		ATGTCAGCAGCAGAGGCAGTG	0.552000														281			62		0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58452630	58452630	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58452630C>A	uc002qqu.3	-	2	1781	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	ZNF256_uc010euj.3_Nonsense_Mutation_p.E363*	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	516					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCCTTTCTCCAGTGTGA	0.463000														109			21		0.000175454	0.000181507	1	1	0
NUAK2	81788	broad.mit.edu	37	1	205275355	205275355	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205275355C>T	uc001hce.3	-	4	778	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	217	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CAATCTCTGGCGAGGCATAGA	0.537000														150			39		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635379	122635379	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635379A>G	uc003vkl.1	-	0	376	c.310T>C	c.(310-312)Tgc>Cgc	p.C104R		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	104					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACCTTGATGCAGTAGAACACG	0.373000														74			13		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447675	100447675	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100447675G>T	uc003duf.3	+	3	573	c.388G>T	c.(388-390)Gga>Tga	p.G130*	TFG_uc003due.3_Nonsense_Mutation_p.G130*|TFG_uc003dug.3_Nonsense_Mutation_p.G130*|TFG_uc003dui.3_Nonsense_Mutation_p.G130*	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	130					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						TGGAGAACCAGGACCTTCCAC	0.373000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									136			23		7.92952e-12	9.07913e-12	1	1	0
PTPRN	5798	broad.mit.edu	37	2	220162710	220162710	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162710G>T	uc002vkz.3	-	12	2025	c.1784C>A	c.(1783-1785)gCt>gAt	p.A595D	PTPRN_uc010zlc.2_Missense_Mutation_p.A505D|PTPRN_uc002vla.3_Missense_Mutation_p.A566D	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	595					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CAGAGCCACAGCCAGAGCCAC	0.657000														118			32		1.61788e-16	1.92999e-16	1	1	0
SYT11	23208	broad.mit.edu	37	1	155851245	155851245	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851245C>A	uc001fmg.3	+	3	1535	c.1242C>A	c.(1240-1242)gtC>gtA	p.V414V	SYT11_uc010pgq.2_Silent_p.V107V	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	414						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GGAGAGAGGTCTGCGAGAGCC	0.597000														228			82		9.59377e-39	1.21881e-38	1	1	0
AK7	122481	broad.mit.edu	37	14	96871122	96871122	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96871122G>A	uc001yfn.2	+	2	367	c.323G>A	c.(322-324)cGc>cAc	p.R108H		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	108					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.R108C(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CTTCTCATGCGCCTGCTGGAG	0.433000														63			16		0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	102980404	102980404	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102980404G>A	uc001phn.1	+	0	245	c.101G>A	c.(100-102)tGc>tAc	p.C34Y	DYNC2H1_uc009yxe.1_Missense_Mutation_p.C34Y|DYNC2H1_uc001pho.2_Missense_Mutation_p.C34Y	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	34	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCACTGTTGTGCAACTGTCTT	0.517000														57			10		0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89758865	89758865	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89758865C>T	uc010cio.3	+	5	469	c.426C>T	c.(424-426)tgC>tgT	p.C142C	CDK10_uc010cip.2_Silent_p.C71C|CDK10_uc010vpl.1_Silent_p.C136C|CDK10_uc002fob.2_Silent_p.C71C|CDK10_uc002fod.3_Silent_p.C71C|CDK10_uc002foe.3_Silent_p.C71C|CDK10_uc002fof.3_Silent_p.C71C|CDK10_uc002fog.4_Silent_p.C71C|CDK10_uc002foh.4_Silent_p.C71C|CDK10_uc002foi.3_5'Flank	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	142	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		AGGTCAAGTGCATCGTGCTGC	0.597000														146			33		0	0	1	0	0
PSMB5	5693	broad.mit.edu	37	14	23502760	23502760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23502760C>T	uc001wii.3	-	1	586	c.322G>A	c.(322-324)Gca>Aca	p.A108T	PSMB5_uc001wij.3_Missense_Mutation_p.A108T|PSMB5_uc010tni.2_Missense_Mutation_p.A5T	NM_002797	NP_001124197	P28074	PSB5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 5 (PSMB5), transcript variant 1, mRNA.	108					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity	p.A108T(2)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	CAATCCGCTGCGCCCCCAGCC	0.552000														126			13		0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61443875	61443875	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61443875C>T	uc002ydj.3	+	6	943	c.908C>T	c.(907-909)cCg>cTg	p.P303L	OGFR_uc002ydk.3_Missense_Mutation_p.P286L|OGFR_uc002ydl.3_Missense_Mutation_p.P251L	NM_007346	NP_031372	Q9NZT2	OGFR_HUMAN	Homo sapiens opioid growth factor receptor (OGFR), mRNA.	303					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					CTGCCCCATCCGCTCGAGGGC	0.677000														20			6		0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33795562	33795562	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33795562G>A	uc002kzq.4	+	7	1442	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S		NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	473					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GATACATGTCGACGCTGGATG	0.542000														67			14		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38840488	38840488	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38840488C>T	uc021yzh.1	+	49	7276	c.7167C>T	c.(7165-7167)gaC>gaT	p.D2389D	DNAH8_uc003ooe.2_Silent_p.D2172D	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGACTGGACACTGCTACCA	0.408000														90			17		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923313	26923313	+	Silent	SNP	C	T	T	rs67269290		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923313C>T	uc001uqr.1	+	2	332	c.309C>T	c.(307-309)gaC>gaT	p.D103D	CDK8_uc001uqs.1_Silent_p.D103D|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	103	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.D103N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CTGAACATGACCTCTGGGTAA	0.413000														213			11		0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7963918	7963918	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7963918G>A	uc002mir.3	+	2	612	c.511G>A	c.(511-513)Ggg>Agg	p.G171R		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	171						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGAGGTATCCGGGGAGAACCA	0.627000														219			55		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31083901	31083901	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31083901G>A	uc003nsm.2	-	1	1547	c.1491C>T	c.(1489-1491)cgC>cgT	p.R497R	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	497					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						CCCGGATGGAGCGGCAGGGGA	0.602000														117			31		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934818	28934818	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28934818C>T	uc002kwp.3	+	14	2871	c.2659C>T	c.(2659-2661)Cga>Tga	p.R887*	DSG1_uc010xbp.2_Nonsense_Mutation_p.R246*	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	887					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCCTGACTTGCGAGATGGGTC	0.478000														219			53		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	251561	251561	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:251561C>T	uc011clv.1	+	12	1887	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	SDHA_uc003jao.4_Missense_Mutation_p.A591V|SDHA_uc011clw.2_Missense_Mutation_p.A543V|SDHA_uc003jaq.4_Missense_Mutation_p.A366V|SDHA_uc021xvu.1_Intron	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	591				A -> T (in Ref. 3; AAD51006).	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCACGGGGCGCGCATGCCAGG	0.627000									Familial Paragangliomas					70			19		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43708516	43708516	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43708516A>G	uc001zrs.3	-	21	4913	c.4765T>C	c.(4765-4767)Tcc>Ccc	p.S1589P	TP53BP1_uc010udp.2_Missense_Mutation_p.S1589P|TP53BP1_uc001zrq.4_Missense_Mutation_p.S1594P|TP53BP1_uc001zrr.4_Missense_Mutation_p.S1594P|TP53BP1_uc010udq.1_Missense_Mutation_p.S1594P|TP53BP1_uc001zrp.3_Missense_Mutation_p.S6P	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1589					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TGCTCCAAGGACAGGATGACA	0.473000								Other conserved DNA damage response genes						115			33		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18778902	18778902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18778902G>A	uc002njz.1	+	2	722	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	232	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGCCGTCCGCTGGCTGCAG	0.687000														185			10		0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184614276	184614276	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184614276G>T	uc003ivx.3	+	19	2415	c.2213G>T	c.(2212-2214)aGc>aTc	p.S738I	TRAPPC11_uc003ivw.3_Missense_Mutation_p.S738I|TRAPPC11_uc010isc.3_Missense_Mutation_p.S82I|TRAPPC11_uc003ivy.3_Missense_Mutation_p.S344I	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	738				Missing (in Ref. 3; BAB14556).													CACTGGGACAGCATTATAATT	0.438000														61			13		5.50884e-06	5.8131e-06	1	1	0
PTGER4	5734	broad.mit.edu	37	5	40681899	40681899	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40681899C>A	uc003jlz.3	+	1	1396	c.804C>A	c.(802-804)atC>atA	p.I268I		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	268					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GCGCCGAGATCCAGATGGTCA	0.687000														103			24		1.10513e-12	1.27896e-12	1	1	0
FPGS	2356	broad.mit.edu	37	9	130575653	130575653	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575653G>A	uc004bsg.1	+	14	1584	c.1534G>A	c.(1534-1536)Gcc>Acc	p.A512T	FPGS_uc004bsh.1_Missense_Mutation_p.A329T|FPGS_uc011mal.1_Missense_Mutation_p.A486T|FPGS_uc004bsi.1_Missense_Mutation_p.A462T|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	512					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CACCTGCAGTGCCAGCTCCCT	0.657000														190			48		0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47618869	47618869	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47618869A>G	uc003crp.4	-	1	823	c.647T>C	c.(646-648)cTg>cCg	p.L216P	CSPG5_uc003crn.3_Missense_Mutation_p.L78P|CSPG5_uc003cro.4_Missense_Mutation_p.L216P|CSPG5_uc021wxh.1_Missense_Mutation_p.L216P|CSPG5_uc021wxi.1_Missense_Mutation_p.L78P|CSPG5_uc011bbb.2_Missense_Mutation_p.L78P	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	216					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCACCATCCAGTCCTTCGAA	0.587000														84			13		0	0	1	0	0
SH3GLB1	51100	broad.mit.edu	37	1	87185243	87185243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87185243C>T	uc001dly.3	+	2	598	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SH3GLB1_uc001dlw.3_Missense_Mutation_p.R90C|SH3GLB1_uc001dlz.3_5'UTR|SH3GLB1_uc001dlx.3_Missense_Mutation_p.R90C	NM_001206651	NP_001193580	Q9Y371	SHLB1_HUMAN	Homo sapiens SH3-domain GRB2-like endophilin B1 (SH3GLB1), transcript variant 2, mRNA.	90	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	SH3 domain binding|cytoskeletal adaptor activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AGCTCCAAGTCGTATAAACAA	0.358000														77			5		0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	624165	624165	+	Missense_Mutation	SNP	G	A	A	rs148273392		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:624165G>A	uc002cho.3	+	1	229	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	PIGQ_uc010bqw.3_Missense_Mutation_p.V31M|PIGQ_uc002chm.3_Missense_Mutation_p.V31M|PIGQ_uc002chn.3_Missense_Mutation_p.V31M|PIGQ_uc010uui.2_Missense_Mutation_p.V45M	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	31					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GAGCAGCGCCGTGGTCCTGGC	0.701000														87			26		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70517147	70517147	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70517147G>A	uc003xyg.2	+	11	1918	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	SULF1_uc010lza.1_Missense_Mutation_p.A453T|SULF1_uc003xyd.2_Missense_Mutation_p.A453T|SULF1_uc003xye.2_Missense_Mutation_p.A453T|SULF1_uc003xyf.2_Missense_Mutation_p.A453T|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	453					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTACCAGACAGCCTGTGAACA	0.448000														169			31		0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28318399	28318399	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:28318399G>C	uc001msh.2	+	5	1154	c.699G>C	c.(697-699)aaG>aaC	p.K233N	METTL15_uc001msg.2_Missense_Mutation_p.K233N|METTL15_uc001mse.2_Missense_Mutation_p.E219Q	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN	Homo sapiens methyltransferase like 15 (METTL15), transcript variant 1, mRNA.	233							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCATGCCAAGAAAATCGCTT	0.498000														113			31		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68517909	68517909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517909C>T	uc001ooc.3	-	1	360	c.220G>A	c.(220-222)Gac>Aac	p.D74N	MTL5_uc001ood.1_Missense_Mutation_p.D74N|MTL5_uc009ysi.1_Missense_Mutation_p.D74N|MTL5_uc001ooe.3_Missense_Mutation_p.D74N	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	74					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CCCTTGCAGTCGGCGCCCAGC	0.697000														24			11		0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940506	67940506	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67940506C>T	uc001xjk.3	-	2	545	c.135G>A	c.(133-135)acG>acA	p.T45T	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Silent_p.T45T	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	45						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCCACACGCTCGTGACCCCAG	0.627000														62			7		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858441	43858441	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858441C>A	uc002owi.3	+	2	318	c.276C>A	c.(274-276)ggC>ggA	p.G92G	CD177_uc021uvf.1_Silent_p.G92G|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	92					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACCGGATGGGCCCCGGCCTCT	0.657000														100			11		4.68919e-08	5.11014e-08	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11632901	11632901	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11632901A>C	uc021zzo.1	-	2	1503	c.1251T>G	c.(1249-1251)gaT>gaG	p.D417E	THSD7A_uc021zzn.1_Missense_Mutation_p.D417E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	417						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGACAACTCCATCTCCTTGAG	0.443000										HNSCC(18;0.044)				61			16		0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702155	81702155	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81702155G>T	uc001kbh.3	-	3	465	c.422C>A	c.(421-423)gCt>gAt	p.A141D		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	141	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TTTGGGCCCAGCTTCTCCTTT	0.607000														103			21		6.21321e-17	7.43302e-17	1	1	0
GLI1	2735	broad.mit.edu	37	12	57860099	57860099	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57860099G>T	uc001snx.3	+	7	933	c.839G>T	c.(838-840)aGg>aTg	p.R280M	GLI1_uc021qzi.1_Missense_Mutation_p.R239M|GLI1_uc009zpq.3_Missense_Mutation_p.R152M	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	280					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGGGAGCTGAGGCCCTTCAAA	0.602000														259			62		9.59835e-30	1.20768e-29	1	1	0
SLC7A7	9056	broad.mit.edu	37	14	23282281	23282281	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23282281C>T	uc001wgr.4	-	1	465	c.327G>A	c.(325-327)gaG>gaA	p.E109E	SLC7A7_uc001wgs.4_Silent_p.E109E|SLC7A7_uc001wgt.4_Silent_p.E109E|SLC7A7_uc001wgu.4_Silent_p.E109E|SLC7A7_uc001wgv.4_Silent_p.E109E	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	109					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CTCCAAAGGCCTCCAGGATAT	0.552000														236			48		0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740146	76740146	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740146A>G	uc001syd.1	-	1	1703	c.1619T>C	c.(1618-1620)tTa>tCa	p.L540S		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	540					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTTCTTGAGTAATGGTTCATA	0.363000									Bardet-Biedl syndrome					113			26		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	160385	160385	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000192.1:160385G>A	uc010yih.1	-	11		c.2037C>T						Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.											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)				TGCTGACATCGCCCATGTTCC	0.458000														280			42		0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32133784	32133784	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32133784C>A	uc001btk.1	-	50	3650	c.3285G>T	c.(3283-3285)acG>acT	p.T1095T	COL16A1_uc001btj.1_Silent_p.T893T	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1095	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CTGGGGGGCCCGTGGCACCTG	0.622000														113			9		0.0581538	0.0584306	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86948009	86948009	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86948009C>A	uc001dlt.3	+	4	939	c.679C>A	c.(679-681)Ctc>Atc	p.L227I	CLCA1_uc001dls.1_Missense_Mutation_p.L166I	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	227					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGAGTTTGTTCTCCAATCCCG	0.413000														83			13		4.3838e-07	4.70703e-07	1	1	0
CDK5RAP1	51654	broad.mit.edu	37	20	31973465	31973465	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31973465A>G	uc010gek.3	-	6	991	c.867T>C	c.(865-867)ctT>ctC	p.L289L	CDK5RAP1_uc002wyy.3_Silent_p.L199L|CDK5RAP1_uc002wyz.3_Silent_p.L289L|CDK5RAP1_uc002wza.3_Silent_p.L289L|CDK5RAP1_uc010gel.3_Silent_p.L199L|CDK5RAP1_uc010gem.3_Silent_p.L289L|CDK5RAP1_uc002wzc.1_Silent_p.L289L|CDK5RAP1_uc010gen.3_Silent_p.L289L	NM_016408	NP_057492	Q96SZ6	CK5P1_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1 (CDK5RAP1), transcript variant 1, mRNA.	289					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CCTGCTCAGAAAGCTTCTTCA	0.498000														144			14		0	0	1	0	0
SCYL3	57147	broad.mit.edu	37	1	169847944	169847944	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169847944C>T	uc001ggs.2	-	2	380	c.182G>A	c.(181-183)cGt>cAt	p.R61H	SCYL3_uc001ggt.2_Missense_Mutation_p.R61H	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	61	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAAGGGTGACGAAGTGTCTT	0.408000														193			9		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606350	55606350	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606350G>A	uc010rio.2	+	0	123	c.123G>A	c.(121-123)gtG>gtA	p.V41V		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				GCTTCAGTGTGGTAGGGAATC	0.443000														190			48		0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29641220	29641220	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29641220C>T	uc011dlw.2	-	3	819	c.668G>A	c.(667-669)cGc>cAc	p.R223H		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	139					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						AAGATGCATGCGTCTGTGATA	0.537000														137			43		0	0	1	0	0
BBS12	166379	broad.mit.edu	37	4	123663084	123663084	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123663084C>A	uc021xrm.1	+	2	418	c.37C>A	c.(37-39)Cac>Aac	p.H13N	BBS12_uc003ieu.3_Missense_Mutation_p.H13N|BBS12_uc021xrn.1_Missense_Mutation_p.H13N	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	13					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAAAAGAAGACACATGGGACT	0.333000									Bardet-Biedl syndrome					73			10		1.76689e-08	1.93511e-08	1	1	0
PAXIP1	22976	broad.mit.edu	37	7	154767875	154767875	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154767875T>G	uc022aqg.1	-	5	648	c.605A>C	c.(604-606)gAa>gCa	p.E202A	PAXIP1_uc022aqf.1_Missense_Mutation_p.E202A|PAXIP1_uc022aqh.1_Missense_Mutation_p.E168A|PAXIP1_uc022aqi.1_Missense_Mutation_p.E166A|PAXIP1_uc003wlr.1_Missense_Mutation_p.E111A	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	Homo sapiens PAX interacting (with transcription-activation domain) protein 1 (PAXIP1), mRNA.	202					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ttcctcattttctacttcctc	0.438000														21			3		0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113740496	113740496	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113740496G>T	uc001vsu.3	+	20	2477	c.2477G>T	c.(2476-2478)aGc>aTc	p.S826I	MCF2L_uc001vsq.3_Missense_Mutation_p.S826I|MCF2L_uc010tjr.2_Missense_Mutation_p.S769I|MCF2L_uc001vsr.3_Missense_Mutation_p.S773I|MCF2L_uc001vss.4_Missense_Mutation_p.S767I|MCF2L_uc010tjs.2_Missense_Mutation_p.S767I|MCF2L_uc001vst.1_Missense_Mutation_p.S731I	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	799					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGGCGCTGAGCTCCATCCTG	0.632000														88			26		4.72057e-08	5.14176e-08	1	1	0
BAI1	575	broad.mit.edu	37	8	143607953	143607953	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143607953C>T	uc003ywm.3	+	22	3546	c.3363C>T	c.(3361-3363)gaC>gaT	p.D1121D		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1121					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TGTCCAAAGACGGCATCACGG	0.657000														47			7		0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111895132C>T	uc001tsj.3	-	21	3564	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_uc001tsh.3_Silent_p.A869A|ATXN2_uc001tsi.3_Silent_p.A827A|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.A135A	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1134					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537000														105			16		0	0	1	0	0
LSAMP	4045	broad.mit.edu	37	3	115805293	115805293	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115805293C>T	uc011bis.2	-	1	773	c.266G>A	c.(265-267)cGc>cAc	p.R89H	LSAMP_uc003ebs.3_Missense_Mutation_p.R89H	NM_002338	NP_002329	Q13449	LSAMP_HUMAN	Homo sapiens limbic system-associated membrane protein (LSAMP), mRNA.	89	Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CAGAGAATGGCGTTTCTCCAG	0.512000														74			22		0	0	1	0	0
CHCHD4	131474	broad.mit.edu	37	3	14154654	14154654	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14154654T>C	uc003byj.4	-	2	357	c.162A>G	c.(160-162)ccA>ccG	p.P54P	CHCHD4_uc003byi.4_Silent_p.P67P	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4 (CHCHD4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCCCAAGGCATGGGCAGTTCC	0.463000														106			34		0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43944880	43944880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43944880C>T	uc002xns.3	+	9	1146	c.1074C>T	c.(1072-1074)tgC>tgT	p.C358C	RBPJL_uc002xnt.3_Silent_p.C358C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	358					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				ACAGCTCTTGCTGGACCATCA	0.627000														178			26		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43033296	43033296	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43033296C>T	uc003xpx.4	+	9	979	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	339			P -> L (in MPS3C; results in a negligible amount of protein synthesis and very low enzyme activity; retained in the endoplasmic reticulum).		lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATTCAGATTGCTGGGGAAGAT	0.363000														142			27		0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114611181	114611181	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114611181C>T	uc003kqz.2	-	5	868	c.650G>A	c.(649-651)aGc>aAc	p.S217N	CCDC112_uc003kqy.2_Missense_Mutation_p.S134N|CCDC112_uc003kra.2_Missense_Mutation_p.S217N	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	134								p.S216L(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		AGGAACTTTGCTTGAGATTGC	0.408000														126			30		0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731619	94731619	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94731619G>A	uc021qow.1	+	0	1083	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	KDM4D_uc001pfe.3_Silent_p.Q361Q	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	361					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAGCACCCAGAAGGAAGTCC	0.622000														99			20		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19147945	19147945	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19147945A>C	uc002kth.1	-	4	2575	c.1641T>G	c.(1639-1641)ttT>ttG	p.F547L	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	547					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.K546T(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTACCTGGAAATTTATTCT	0.328000														71			22		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223811	2223811	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223811C>T	uc002cow.3	+	11	1208	c.1109C>T	c.(1108-1110)gCg>gTg	p.A370V		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	370					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CACATCAACGCGCGGCTGAAC	0.706000														112			22		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24880896	24880896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24880896G>A	uc001isb.2	-	21	4409	c.3922C>T	c.(3922-3924)Cga>Tga	p.R1308*	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1307	Rho-GAP.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCTGATGTTCGAACAAGGGTG	0.438000														149			32		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39285830	39285830	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39285830A>T	uc002rrk.4	-	2	370	c.329T>A	c.(328-330)aTt>aAt	p.I110N	SOS1_uc010ynr.1_Non-coding_Transcript	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	110					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TAAAGGATGAATTTTTTCTAC	0.343000									Noonan syndrome					92			28		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124748188	124748188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124748188G>A	uc011bke.2	-	1	529	c.461C>T	c.(460-462)tCg>tTg	p.S154L	HEG1_uc003ehs.4_Missense_Mutation_p.S154L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	154						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TGGAGCATCCGAAGCAGCATG	0.483000														96			14		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47538546	47538546	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47538546G>T	uc002zia.1	+	12	1217	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	COL6A2_uc002zhz.1_Nonsense_Mutation_p.G379*|COL6A2_uc002zhy.1_Nonsense_Mutation_p.G379*	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	379	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCCGCCCAGGACGCAGAGG	0.682000														60			11		6.40141e-05	6.6609e-05	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234526586	234526586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234526586C>T	uc002vup.3	+	0	296	c.233C>T	c.(232-234)tCa>tTa	p.S78L	UGT1A1_uc010zmv.1_Missense_Mutation_p.S78L	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	80					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.S78*(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGACTTACTCAACCTCATAC	0.463000														252			57		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042451	75042451	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75042451C>A	uc002ayr.1	+	1	436	c.372C>A	c.(370-372)acC>acA	p.T124T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	124					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)	AGAGCTTGACCTTCAGCACAG	0.642000														318			82		2.72187e-29	3.42272e-29	1	1	0
EPN3	55040	broad.mit.edu	37	17	48618173	48618173	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48618173G>A	uc010wms.2	+	6	1271	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	SPATA20_uc002irc.3_5'Flank|EPN3_uc002ira.4_Silent_p.E333E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E306E			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	333	5 X 3 AA repeats of [DE]-P-W.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGAACACAGAGGCCAGTGGAT	0.617000														117			29		0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220384297	220384297	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220384297C>A	uc010puk.1	-	5	598	c.434_splice	c.e5+1	p.R145_splice	RAB3GAP2_uc021pjf.1_Splice_Site_p.R145_splice|RAB3GAP2_uc001hmf.2_Splice_Site|RAB3GAP2_uc001hmg.2_Splice_Site|RAB3GAP2_uc010pum.1_Splice_Site_p.R145_splice	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	145					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTATCCTTACCTCTTTTGGCT	0.353000														55			8		5.18039e-06	5.47662e-06	1	1	0
DLGAP3	58512	broad.mit.edu	37	1	35370403	35370403	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35370403G>T	uc001byc.3	-	0	582	c.582C>A	c.(580-582)gaC>gaA	p.D194E		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	194					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GCCCATTATAGTCCCGCTTCC	0.647000														120			12		3.27435e-08	3.57295e-08	1	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189278	26189278	+	Missense_Mutation	SNP	C	A	A	rs142303259		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26189278C>A	uc003ngu.3	-	0	27	c.27G>T	c.(25-27)aaG>aaT	p.K9N		NM_003539	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4d (HIST1H4D), mRNA.	9					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.K9R(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TACCTAGACCCTTTCCGCCCT	0.552000														173			24		1.13719e-10	1.28347e-10	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138669337	138669337	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138669337G>A	uc011mdq.2	+	20	2577	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M	KCNT1_uc011mdr.2_Missense_Mutation_p.V662M|KCNT1_uc010nbf.3_Missense_Mutation_p.V790M|KCNT1_uc004cgo.1_Missense_Mutation_p.V584M	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	835						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GAACCCCATCGTGCTGCTGCT	0.657000														90			20		0	0	1	0	0
BHLHE40	8553	broad.mit.edu	37	3	5025367	5025367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5025367C>T	uc003bqf.3	+	4	1536	c.1229C>T	c.(1228-1230)aCc>aTc	p.T410I	BHLHE40_uc011asw.2_Missense_Mutation_p.T270I	NM_003670	NP_003661	O14503	BHE40_HUMAN	Homo sapiens basic helix-loop-helix family, member e40 (BHLHE40), mRNA.	410						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AACTTAGAAACCAAAGACTAA	0.468000														194			30		0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45918173	45918173	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45918173C>T	uc002pbs.2	-	6	794	c.648G>A	c.(646-648)gaG>gaA	p.E216E	ERCC1_uc002pbt.2_Silent_p.E216E|ERCC1_uc002pbu.2_Silent_p.E144E|ERCC1_uc002pbv.3_Silent_p.E216E	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	216					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CTGGTTTCTGCTCATAGGCCT	0.602000								Nucleotide excision repair (NER)						103			20		0	0	1	0	0
CDYL2	124359	broad.mit.edu	37	16	80718665	80718665	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:80718665T>C	uc002ffs.3	-	1	491	c.386A>G	c.(385-387)gAc>gGc	p.D129G		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	129						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGTGGCCCTGTCACCTCCTGA	0.542000														157			34		0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242815311	242815311	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242815311G>T	uc010fzu.1	+	1	1627	c.1604G>T	c.(1603-1605)aGg>aTg	p.R535M		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	535						integral to membrane											GCCTGCCGTAGGCCGCACGCC	0.642000														344			109		4.26718e-67	5.45331e-67	1	1	0
CCDC144B	284047	broad.mit.edu	37	17	18528487	18528487	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18528487C>T	uc002guc.2	-	0	444	c.274G>A	c.(274-276)Gac>Aac	p.D92N	CCDC144B_uc002gua.4_Non-coding_Transcript|CCDC144B_uc010vyc.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CCAGGGACGTCGCCCGACCGG	0.652000														343			99		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261125	160261125	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160261125C>A	uc001fvv.4	-	31	3841	c.3447_splice	c.e31+1	p.Q1149_splice	COPA_uc009wti.3_Splice_Site_p.Q1140_splice	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	1140					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCCATCTACCTGTTGGGCCA	0.517000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		167			64		4.13886e-29	5.20307e-29	1	1	0
SORCS1	114815	broad.mit.edu	37	10	108923970	108923970	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:108923970G>A	uc001kyl.3	-	0	497	c.315C>T	c.(313-315)tcC>tcT	p.S105S	SORCS1_uc021pxw.1_Silent_p.S105S|SORCS1_uc009xxs.3_Silent_p.S105S|SORCS1_uc001kym.3_Silent_p.S105S|SORCS1_uc001kyn.2_Silent_p.S105S|SORCS1_uc001kyo.3_Silent_p.S105S	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	105						integral to membrane	neuropeptide receptor activity|protein binding	p.S105S(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		TCCTCCGGCCGGAGCGTGCAG	0.701000														61			19		0	0	1	0	0
JSRP1	126306	broad.mit.edu	37	19	2255205	2255205	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2255205C>A	uc002lvj.2	-	2	180	c.109_splice	c.e2+1	p.A37_splice		NM_144616	NP_653217	Q96MG2	JSPR1_HUMAN	Homo sapiens junctional sarcoplasmic reticulum protein 1 (JSRP1), mRNA.	37	Mediates interaction with CACNA1S (By similarity).					sarcoplasmic reticulum membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAAGGGTACCTGAAGCCCTG	0.652000														63			9		2.52707e-12	2.91184e-12	1	1	0
STRA8	346673	broad.mit.edu	37	7	134927583	134927583	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134927583C>A	uc011kpx.2	+	2	309	c.309C>A	c.(307-309)acC>acA	p.T103T		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	103					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.T103T(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						TGGAGCAAACCCTGGATAATT	0.458000														136			17		1.99824e-07	2.15697e-07	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158725615	158725615	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158725615G>T	uc001fsw.1	+	0	1010	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	337					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					TATCAGAAGAGGGCTGGTTGG	0.408000														85			43		2.95478e-19	3.58478e-19	1	1	0
ZNF433	163059	broad.mit.edu	37	19	12125782	12125782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12125782G>A	uc002msy.1	-	3	2071	c.1900C>T	c.(1900-1902)Cga>Tga	p.R634*	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Nonsense_Mutation_p.R599*	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CCATGCCTTCGAAGGTTTGAG	0.443000														90			16		0	0	1	0	0
ZNF792	126375	broad.mit.edu	37	19	35449350	35449350	+	Missense_Mutation	SNP	C	T	T	rs146414036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35449350C>T	uc002nxh.1	-	3	1796	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTGTGAACTCGCTGATGTTT	0.512000														194			47		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74013961	74013961	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74013961C>A	uc010wss.1	-	13	1863	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H	EVPL_uc002jqi.2_Missense_Mutation_p.Q523H|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	523	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCTTCTGGGCCTGTGGGTTGG	0.677000														164			21		3.83957e-06	4.06525e-06	1	1	0
SVIL	6840	broad.mit.edu	37	10	29762878	29762878	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29762878G>A	uc001iut.1	-	29	6171	c.5418C>T	c.(5416-5418)gcC>gcT	p.A1806A	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.A720A|SVIL_uc001iuu.1_Silent_p.A1380A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1806					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCTCTTTGCCGGCTGCCCTCA	0.597000														72			12		0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1606276	1606276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1606276G>A	uc001ltu.1	-	0	238	c.204C>T	c.(202-204)ggC>ggT	p.G68G	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	68	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		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;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AAGAGCCACAGCCCCCTTTGC	0.662000														458			83		0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56977193	56977193	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56977193C>T	uc002eke.1	+	7	1576	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	HERPUD1_uc002ekf.1_Silent_p.I388I|HERPUD1_uc002ekg.1_Silent_p.I364I|HERPUD1_uc010cco.1_3'UTR|HERPUD1_uc010ccp.1_Silent_p.I291I|HERPUD1_uc002ekh.1_Silent_p.I207I	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.	389						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						CCCCAGCCATCGCAAACTGAT	0.522000			T	ERG	prostate									307			48		0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87445750	87445750	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87445750C>T	uc002fjz.1	-	11	2193	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Silent_p.T498T	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	722	Ser-rich.				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGCTGGGCAACGTGGCCATGT	0.642000														203			39		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131179	147131179	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131179G>A	uc003ewe.3	+	2	1904	c.1185G>A	c.(1183-1185)ccG>ccA	p.P395P		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	395	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCCTTCGCCGGCCGCCAGCT	0.617000														196			51		0	0	1	0	0
PORCN	64840	broad.mit.edu	37	X	48370880	48370880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48370880C>T	uc010nie.1	+	4	698	c.540C>T	c.(538-540)gtC>gtT	p.V180V	PORCN_uc004djr.1_Silent_p.V180V|PORCN_uc004djs.1_Silent_p.V180V|PORCN_uc011mlx.1_Silent_p.V109V|PORCN_uc004dju.1_Silent_p.V49V|PORCN_uc004djv.1_Silent_p.V180V|PORCN_uc004djw.1_Silent_p.V180V	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	180					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAAGCTGTCCAAGGCCGCC	0.612000														31			6		0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33591414	33591414	+	Silent	SNP	G	A	A	rs145462116	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33591414G>A	uc002xbk.3	-	17	2089	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Silent_p.N276N|TRPC4AP_uc010zur.2_Silent_p.N646N|TRPC4AP_uc002xbl.3_Silent_p.N677N	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	685					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGCAGCTGACGTTCTCCTGCA	0.667000														45			22		0	0	1	0	0
USP24	23358	broad.mit.edu	37	1	55569592	55569592	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55569592G>T	uc021onw.1	-	41	5235	c.4982C>A	c.(4981-4983)tCt>tAt	p.S1661Y	USP24_uc001cyg.4_Missense_Mutation_p.S1495Y	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1661					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.M1660I(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTGATGCATAGAAAGCAGTTC	0.378000														22			5		0.000602214	0.000618135	1	1	0
ABLIM1	3983	broad.mit.edu	37	10	116203826	116203826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116203826G>A	uc021pyx.1	-	16	1994	c.1895C>T	c.(1894-1896)tCt>tTt	p.S632F	ABLIM1_uc021pyw.1_Missense_Mutation_p.S632F|ABLIM1_uc021pyy.1_Missense_Mutation_p.S600F|ABLIM1_uc021pyz.1_Missense_Mutation_p.S566F|ABLIM1_uc021pza.1_Missense_Mutation_p.S572F|ABLIM1_uc021pze.1_Missense_Mutation_p.S509F|ABLIM1_uc021pzf.1_Missense_Mutation_p.S596F|ABLIM1_uc021pyv.1_Missense_Mutation_p.S302F|ABLIM1_uc021pzb.1_Missense_Mutation_p.S227F|ABLIM1_uc021pzc.1_Missense_Mutation_p.S248F|ABLIM1_uc021pzd.1_Missense_Mutation_p.S445F|ABLIM1_uc021pyu.1_Missense_Mutation_p.S309F	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	632					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GGCTAACAGAGATGACCTTTC	0.463000														167			50		0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57731164	57731164	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57731164G>A	uc010bfw.3	+	2	1160	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	CGNL1_uc002aeg.3_Missense_Mutation_p.A323T	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	323	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TGCCATCCATGCCGACAACGT	0.498000														83			7		0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70049400	70049400	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70049400C>A	uc001svg.3	-	9	1521	c.1294G>T	c.(1294-1296)Gcc>Tcc	p.A432S	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.A219S|BEST3_uc010stm.2_Missense_Mutation_p.A326S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	432						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AGGTCCCTGGCTGGGCTGAGG	0.597000														154			21		0.000132079	0.000137	1	1	0
GSG1L	146395	broad.mit.edu	37	16	27840187	27840187	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27840187C>A	uc002doz.2	-	4	838	c.753G>T	c.(751-753)aaG>aaT	p.K251N	GSG1L_uc010bya.1_Missense_Mutation_p.K200N|GSG1L_uc010bxz.1_Missense_Mutation_p.K96N|GSG1L_uc002doy.2_Missense_Mutation_p.K96N	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	251						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						AGACCTTGCGCTTGTGCCGGA	0.592000														117			31		2.08457e-15	2.46654e-15	1	1	0
STAB1	23166	broad.mit.edu	37	3	52550718	52550718	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52550718G>A	uc003dej.3	+	40	4371	c.4297G>A	c.(4297-4299)Gac>Aac	p.D1433N	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1433	EGF-like 10.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTGCGTGCAGGACTCGGCCGG	0.682000														64			18		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56328406	56328406	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56328406G>A	uc003pcy.4	-	80	15083	c.14975C>T	c.(14974-14976)gCg>gTg	p.A4992V	DST_uc003pcv.4_Missense_Mutation_p.A114V|DST_uc003pcw.4_Missense_Mutation_p.A75V|DST_uc003pcx.4_Missense_Mutation_p.A75V	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7428					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCCGCCTGCGCAGCCTGACT	0.587000														178			39		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10250488	10250488	+	Silent	SNP	T	C	C	rs111848991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10250488T>C	uc003jeq.3	+	0	207	c.36T>C	c.(34-36)taT>taC	p.Y12Y	FAM173B_uc003jeo.2_5'Flank|FAM173B_uc003jep.2_5'Flank|FAM173B_uc010itr.2_5'Flank|CCT5_uc011cmq.2_Missense_Mutation_p.M1T|CCT5_uc011cmr.2_Silent_p.Y12Y|CCT5_uc011cms.2_5'Flank|CCT5_uc011cmt.2_5'Flank	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	12					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TCGATGAATATGGGCGCCCTT	0.592000														95			10		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150692340	150692340	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150692340C>T	uc003wif.3	+	2	504	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	NOS3_uc011kuy.2_5'UTR|NOS3_uc011kva.2_Missense_Mutation_p.R70C|NOS3_uc011kuz.2_Missense_Mutation_p.R70C|NOS3_uc011kvb.2_Missense_Mutation_p.R70C	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	70					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAAGTTCCCTCGTGTGAAGAA	0.637000														70			9		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91477381	91477381	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91477381G>A	uc001kgs.1	+	10	1245	c.1173G>A	c.(1171-1173)caG>caA	p.Q391Q	KIF20B_uc001kgr.1_Silent_p.Q391Q	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	391	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGAAGACACAGAATGAAGGTG	0.313000														81			16		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997340	144997340	+	Missense_Mutation	SNP	C	T	T	rs62641756	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997340C>T	uc003zaf.1	-	30	7338	c.7168G>A	c.(7168-7170)Gca>Aca	p.A2390T	PLEC_uc003zab.1_Missense_Mutation_p.A2253T|PLEC_uc003zac.1_Missense_Mutation_p.A2257T|PLEC_uc003zad.2_Missense_Mutation_p.A2253T|PLEC_uc003zae.1_Missense_Mutation_p.A2221T|PLEC_uc003zag.1_Missense_Mutation_p.A2231T|PLEC_uc003zah.2_Missense_Mutation_p.A2239T|PLEC_uc003zaj.2_Missense_Mutation_p.A2280T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2390	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642000														86			25		0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89775730	89775730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89775730G>A	uc002fom.1	-	11	1627	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	C16orf7_uc002fol.1_Missense_Mutation_p.A431V|LOC100128881_uc002fon.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	501	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGCCCCCTTGGCCTCAGGGTT	0.672000														151			55		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134055268	134055268	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134055268G>A	uc001qhd.1	-	16	2805	c.2199C>T	c.(2197-2199)gaC>gaT	p.D733D	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	733					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TTCTGCTGTAGTCCAGCCTGG	0.438000														49			14		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101560322	101560322	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101560322T>C	uc001kqf.2	+	9	1348	c.1209_splice	c.e9+2	p.K403_splice		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	403	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TATAAGAAGGTAAGCAGAATA	0.408000														122			19		0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35210976	35210976	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35210976C>A	uc003okf.1	+	14	1878	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	SCUBE3_uc003okg.1_Silent_p.S623S|SCUBE3_uc003okh.1_Silent_p.S511S	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	624					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGATGGAGTCCTGTAGGCCCG	0.632000														128			31		6.38683e-12	7.32513e-12	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60926993	60926993	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60926993G>A	uc002ycq.3	-	4	897	c.830C>T	c.(829-831)gCg>gTg	p.A277V	LAMA5_uc021wfw.1_Missense_Mutation_p.A277V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	277	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.A277A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCCGCAGCGCCTTCCCCAT	0.697000														55			11		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51011411	51011411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51011411G>A	uc003bmm.3	-	10	1344	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	CPT1B_uc003bmk.4_Silent_p.A415A|CPT1B_uc003bml.3_Silent_p.A415A|CPT1B_uc003bmo.3_Silent_p.A415A|CPT1B_uc011asa.2_Silent_p.A381A|CPT1B_uc003bmn.3_Silent_p.A415A|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Silent_p.A212A|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	415					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CGAAGAAAGCGGCACGCTCGA	0.592000														212			63		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27565856	27565856	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27565856G>T	uc003szf.3	-	7	1201	c.988C>A	c.(988-990)Cta>Ata	p.L330I	HIBADH_uc003szg.3_Missense_Mutation_p.L281I	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	330					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	TCCTCTCGTAGGAACTGGAAC	0.502000														49			11		0.00829132	0.00840732	1	1	0
AK296065	0	broad.mit.edu	37	7	150772281	150772281	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150772281A>G	uc011kvf.2	-	1	778	c.605T>C	c.(604-606)gTc>gCc	p.V202A	SLC4A2_uc022apz.1_Intron|SLC4A2_uc003wit.4_Intron|SLC4A2_uc011kve.2_Intron|SLC4A2_uc003wiu.4_Intron					SubName: Full=cDNA FLJ59028;																		TTCTGGAAAGACCCTGTGGTC	0.592000														30			6		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18021876	18021876	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18021876C>A	uc010gqw.1	+	14	1972	c.1972C>A	c.(1972-1974)Ccc>Acc	p.P658T	CECR2_uc010gqv.1_Missense_Mutation_p.P519T|CECR2_uc002zml.2_Missense_Mutation_p.P519T	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	702					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding	p.L657L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CCTCCGAGGACCCAGGCTAGG	0.537000														51			5		0.00116845	0.00119477	1	1	0
GGTLC2	91227	broad.mit.edu	37	22	22989491	22989491	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22989491G>A	uc010gts.2	+	2	377	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.V115M	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	115					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GACGATCATGGTGGGCCAGGA	0.647000														307			25		0	0	1	0	0
SLC35C1	55343	broad.mit.edu	37	11	45832503	45832503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45832503G>A	uc001nbp.3	+	1	1424	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	SLC35C1_uc001nbo.3_Missense_Mutation_p.A225T|SLC35C1_uc010rgm.2_Missense_Mutation_p.A225T	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	238						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		CAACGTCAACGCCTGCATCCT	0.627000														105			28		0	0	1	0	0
STH	246744	broad.mit.edu	37	17	44076881	44076881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44076881G>A	uc002ijy.2	+	0	266	c.236G>A	c.(235-237)aGc>aAc	p.S79N	MAPT_uc010dau.3_Intron|MAPT_uc002ijr.4_Intron|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	Homo sapiens saitohin (STH), mRNA.	79						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGTTCTTACAGCTCTGAAGAG	0.557000														51			15		0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53224076	53224076	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53224076C>T	uc001sbb.3	-	3	732	c.699_splice	c.e3-1	p.K233_splice	KRT79_uc001sba.3_Silent_p.R4R	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	233	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCCTCGTACCTGTTACACA	0.572000														152			28		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5040979	5040979	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5040979G>A	uc002gau.1	+	19	3089	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	USP6_uc002gav.1_Missense_Mutation_p.V287M|USP6_uc010ckz.1_5'UTR|DQ584383_uc021toj.1_5'Flank|DQ574802_uc021tok.1_5'Flank|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	287	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCTGTGGGACGTGTATTTGGT	0.587000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									385			70		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101016096G>A	uc001thu.3	+	8	918	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	GAS2L3_uc009zty.3_Missense_Mutation_p.R231Q|GAS2L3_uc001thv.3_Missense_Mutation_p.R127Q	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	231	GAR.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318000														60			17		0	0	1	0	0
KIF12	113220	broad.mit.edu	37	9	116856514	116856514	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116856514C>T	uc004bif.3	-	9	1084	c.846G>A	c.(844-846)caG>caA	p.Q282Q	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	415	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						ACAGGTTCCGCTGGGCCCAGG	0.632000														175			35		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152676008	152676008	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152676008G>A	uc021zhb.1	-	64	10935	c.10712C>T	c.(10711-10713)gCt>gTt	p.A3571V	SYNE1_uc003qot.4_Missense_Mutation_p.A3578V|SYNE1_uc003qou.4_Missense_Mutation_p.A3571V|SYNE1_uc010kja.2_Missense_Mutation_p.A276V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3571					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGACTCTAAAGCCCGGTCCTC	0.547000										HNSCC(10;0.0054)				253			52		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80478528	80478528	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:80478528C>T	uc002bfm.2	+	13	1401	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	FAH_uc002bfn.2_Silent_p.L343L	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	413					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGAAAAGTGCTGCCTGCTCT	0.562000									Tyrosinemia, type 1					89			30		0	0	1	0	0
ABHD3	171586	broad.mit.edu	37	18	19283700	19283700	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19283700C>T	uc002ktl.2	-	1	311	c.171G>A	c.(169-171)caG>caA	p.Q57Q	ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	57						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CGGTCACTAACTGGGGTTTCT	0.562000														104			16		0	0	1	0	0
SP7	121340	broad.mit.edu	37	12	53722858	53722858	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53722858G>T	uc001sct.3	-	1	475	c.368C>A	c.(367-369)cCc>cAc	p.P123H	SP7_uc001scv.3_Missense_Mutation_p.P123H|SP7_uc001scu.3_Missense_Mutation_p.P105H	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GTAGACACTGGGCAGACAGTC	0.577000														96			27		3.01185e-09	3.33505e-09	1	1	0
SUCLG1	8802	broad.mit.edu	37	2	84668576	84668576	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84668576T>G	uc002son.3	-	3	519	c.326A>C	c.(325-327)gAa>gCa	p.E109A	SUCLG1_uc010ysk.1_Missense_Mutation_p.E96A	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	109					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TCCTGTCTGTTCTTTGGCCTG	0.378000														69			7		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754626	47754626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47754626C>T	uc002zji.4	+	2	690	c.583C>T	c.(583-585)Cgt>Tgt	p.R195C	PCNT_uc002zjj.3_Missense_Mutation_p.R77C|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	195					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCAGAACAGCGTGGGATCTT	0.488000														158			15		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028103	102028103	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028103C>T	uc021sdx.1	+	0	416	c.270C>T	c.(268-270)ggC>ggT	p.G90G	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	64					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				ACAGTGAAGGCGAGGAGGTGC	0.647000														229			38		0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70360997	70360997	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:70360997G>A	uc003hek.4	-	0	630	c.583C>T	c.(583-585)Cct>Tct	p.P195S	UGT2B4_uc011cap.2_Missense_Mutation_p.P59S|UGT2B4_uc003hel.4_Missense_Mutation_p.P195S	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	195					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ATAACAACAGGCACATAGGAA	0.388000														79			14		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47735874	47735874	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47735874A>C	uc001ngg.3	-	2	361	c.59T>G	c.(58-60)tTt>tGt	p.F20C	AGBL2_uc010rhq.1_Missense_Mutation_p.F20C|AGBL2_uc001ngh.1_Missense_Mutation_p.F20C	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	20					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						ACGGTACATAAAGTCTTCATA	0.363000														78			19		0	0	1	0	0
ECHDC2	55268	broad.mit.edu	37	1	53370467	53370467	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53370467G>A	uc001cup.4	-	6	799	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	ECHDC2_uc001cun.3_Silent_p.L108L|ECHDC2_uc001cuo.4_Silent_p.L154L|ECHDC2_uc021onl.1_Silent_p.L154L|ECHDC2_uc010onk.2_Silent_p.L139L	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	185					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TCCTTCGCCAGGGCCACCCCC	0.637000														90			12		0	0	1	0	0
TAL2	6887	broad.mit.edu	37	9	108424910	108424910	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108424910C>T	uc004bct.3	+	0	173	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_005421	NP_005412	Q16559	TAL2_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 2 (TAL2), mRNA.	45	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										TGAAACGCTTCGCCTGGCAAT	0.537000			T	TRB@	T-ALL									95			24		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56355451	56355451	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56355451C>T	uc002ivu.1	-	6	1118	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	314					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CGGGCAGGAGCGGAAGAACGG	0.622000														213			41		0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6692877	6692877	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6692877G>T	uc001aoc.3	+	5	619	c.460G>T	c.(460-462)Gca>Tca	p.A154S	THAP3_uc001aod.3_Missense_Mutation_p.A153S|THAP3_uc001aoe.2_Intron	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	154							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GAGGCCGCAAGCAACAGAGGC	0.622000														243			17		6.49762e-13	7.53005e-13	1	1	0
MAP7D3	79649	broad.mit.edu	37	X	135328253	135328253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135328253C>T	uc004ezt.3	-	2	445	c.224G>A	c.(223-225)cGc>cAc	p.R75H	MAP7D3_uc004ezs.3_Missense_Mutation_p.R75H|MAP7D3_uc011mwc.2_Missense_Mutation_p.R57H|MAP7D3_uc010nsa.2_Missense_Mutation_p.R74H	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	75						cytoplasm|spindle		p.R372H(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTCCTCTCTGCGCTCTCTTGC	0.274000														94			16		0	0	1	0	0
FKTN	2218	broad.mit.edu	37	9	108366669	108366669	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108366669C>T	uc004bcr.3	+	5	759	c.543C>T	c.(541-543)ggC>ggT	p.G181G	FKTN_uc011lvx.2_Silent_p.G181G|FKTN_uc004bcs.3_Silent_p.G181G|FKTN_uc011lvy.2_Silent_p.G181G|FKTN_uc010mtm.3_Silent_p.G49G	NM_001079802	NP_006722	O75072	FKTN_HUMAN	Homo sapiens fukutin (FKTN), transcript variant 1, mRNA.	181					muscle organ development|negative regulation of JNK cascade|negative regulation of cell proliferation|nervous system development|regulation of protein glycosylation	Golgi membrane|cis-Golgi network|endoplasmic reticulum|extracellular space|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						AGAGGAGTGGCAACTACCTCT	0.473000														146			27		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14568859	14568859	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14568859G>A	uc002myp.3	+	7	1350	c.1182G>A	c.(1180-1182)gtG>gtA	p.V394V	PKN1_uc002myq.3_Silent_p.V400V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	394	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TCAGCACTGTGCTTAAGCTGG	0.552000														334			80		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53684805	53684805	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53684805G>T	uc003dgv.4	+	4	647	c.484_splice	c.e4-1	p.E162_splice	CACNA1D_uc003dgu.4_Splice_Site_p.E162_splice|CACNA1D_uc003dgy.4_Splice_Site_p.E162_splice	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	162					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTCTTCACAGGAAAAAGTAG	0.358000														99			12		2.80697e-09	3.10977e-09	1	1	0
SOLH	6650	broad.mit.edu	37	16	602440	602440	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:602440G>A	uc002chi.3	+	10	3010	c.2647G>A	c.(2647-2649)Gac>Aac	p.D883N	SOLH_uc002chj.3_5'UTR	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	883					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CGTCAGCTGCGACGTCATGCT	0.706000														76			19		0	0	1	0	0
LOC100101266	100101266	broad.mit.edu	37	19	24346083	24346083	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24346083G>A	uc010edb.1	-	0		c.167C>T								Homo sapiens hepatitis A virus cellular receptor 1 pseudogene (LOC100101266), non-coding RNA.																		AATAAAGAACGTGCGCCTCTA	0.493000														59			5		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10318882	10318882	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10318882G>A	uc002gmm.2	-	6	650	c.555C>T	c.(553-555)gcC>gcT	p.A185A	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	185	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAGTCTTTCCGGCACCAGATT	0.438000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					113			28		0	0	1	0	0
LOC148709	148709	broad.mit.edu	37	1	202843176	202843176	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202843176G>T	uc001gyk.1	+	2		c.1128G>T								Homo sapiens actin pseudogene (LOC148709), non-coding RNA.																		GCATCCACCAGGCCACCTTCA	0.562000														24			4		0.00909568	0.00920877	1	1	0
PKD1	5310	broad.mit.edu	37	16	2153410	2153410	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153410G>T	uc002cos.1	-	22	8857	c.8648C>A	c.(8647-8649)gCt>gAt	p.A2883D	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.A2883D|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2883					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCCCGGGCAGCCCAGTCCGA	0.682000														389			95		9.07443e-57	1.159e-56	1	1	0
PLRG1	5356	broad.mit.edu	37	4	155465619	155465619	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155465619T>C	uc003iny.3	-	6	697	c.572A>G	c.(571-573)cAc>cGc	p.H191R	PLRG1_uc003inz.3_Missense_Mutation_p.H182R|PLRG1_uc011cil.2_Missense_Mutation_p.H30R	NM_002669	NP_002660	O43660	PLRG1_HUMAN	Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA.	191						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CCACGGTGGGTGCCACTGGGG	0.423000														61			23		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517519	158517519	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517519T>C	uc010pil.2	-	0	377	c.377A>G	c.(376-378)gAc>gGc	p.D126G		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TACATAGCGGTCAAAGGCCAT	0.468000														107			32		0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74749838	74749838	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74749838T>C	uc010yrw.2	-	7	1529	c.1364A>G	c.(1363-1365)gAt>gGt	p.D455G	DQX1_uc002smc.3_Missense_Mutation_p.D16G	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	455						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGGTCCCCATCATCATCCAG	0.527000														532			29		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179193167	179193167	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179193167G>A	uc003mkm.3	+	1	1419	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	MAML1_uc003mkn.1_Missense_Mutation_p.G386S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	386					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCAGTCAGGGCCCAGGAGG	0.642000														220			24		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242079416	242079416	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242079416G>A	uc002wao.2	-	3	617	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Silent_p.L162L|PASK_uc010fzl.2_Silent_p.L162L|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Silent_p.L162L|PASK_uc002waq.3_Silent_p.L162L	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	162	PAS 1.				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)		TGGCCAATCAGGTCCTGGCTG	0.587000														81			21		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112048243	112048243	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:112048243G>A	uc004epr.3	-	4	1726	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	AMOT_uc004eps.3_Nonsense_Mutation_p.R161*	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	570					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCGATGTGTCGTCTTTGGTCC	0.512000														311			77		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222460	22222460	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22222460C>A	uc009vqd.3	-	3	240	c.200_splice	c.e3-1	p.D67_splice	HSPG2_uc001bfj.3_Splice_Site_p.D67_splice|HSPG2_uc009vqe.1_Splice_Site_p.D22_splice	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	67					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGTCGTCTATAAGCAAA	0.552000														53			14		2.32078e-09	2.57599e-09	1	1	0
E2F4	1874	broad.mit.edu	37	16	67229844	67229844	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229844G>T	uc002erz.3	+	6	1031	c.968G>T	c.(967-969)aGc>aTc	p.S323I		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	323	Poly-Ser.				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		aacagtaacagcagcagTTCG	0.622000														208			36		9.17885e-22	1.12858e-21	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141059951	141059951	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059951C>T	uc003llm.3	-	1	181	c.103G>A	c.(103-105)Gca>Aca	p.A35T	ARAP3_uc003lln.3_5'UTR|ARAP3_uc003llo.1_Missense_Mutation_p.A35T	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	35	SAM.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCCGGGCTGCACCTGCTGTA	0.647000														141			36		0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193111038	193111038	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193111038G>A	uc001gtb.3	+	6	814	c.571G>A	c.(571-573)Gct>Act	p.A191T		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	191					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						CAAAATTATGGCTAAGAAAAG	0.373000														41			12		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26483316	26483316	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26483316C>A	uc003gse.1	-	4	1384	c.1231G>T	c.(1231-1233)Gcc>Tcc	p.A411S		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	411					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GACAGAGAGGCTCCTGTGGTC	0.667000														296			28		7.38237e-10	8.2451e-10	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143704586	143704586	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704586G>A	uc003evo.3	+	1	1394	c.859G>A	c.(859-861)Gac>Aac	p.D287N	C3orf58_uc011bnl.2_Missense_Mutation_p.D78N	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	287						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTCCTGGACGTCAGCTT	0.403000														211			28		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371093	55371093	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371093T>C	uc010rii.2	-	0	782	c.757A>G	c.(757-759)Ata>Gta	p.I253V		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TATATGAATATACATGGGCCA	0.443000														106			31		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55539291	55539291	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55539291A>C	uc003xsd.1	+	3	2997	c.2849A>C	c.(2848-2850)aAt>aCt	p.N950T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	950					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGTAGCAATAATAGTTTTTCA	0.333000														65			14		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478873	110478873	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478873C>A	uc003yne.3	+	49	8584	c.8480C>A	c.(8479-8481)gCt>gAt	p.A2827D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2827					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTCAGGAAGCTGAGTGGAGC	0.448000										HNSCC(38;0.096)				18			4		0.00024832	0.000256435	1	1	0
RPL35	11224	broad.mit.edu	37	9	127620235	127620235	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127620235G>A	uc004boy.1	-	3	383	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W		NM_007209	NP_009140	P42766	RL35_HUMAN	Homo sapiens ribosomal protein L35 (RPL35), mRNA.	112					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GGGTACAGCCGCTCCTTCCGC	0.602000														114			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233848	21233848	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233848A>G	uc002red.3	-	25	6020	c.5892T>C	c.(5890-5892)ctT>ctC	p.L1964L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1964					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTTGTGTTCAAGAGCTGCAC	0.458000														157			63		0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316257	125316257	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125316257G>A	uc011lyx.2	+	0	809	c.809G>A	c.(808-810)gGg>gAg	p.G270E		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473000														146			37		0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74524940	74524940	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74524940G>A	uc002fcx.3	-	7	1458	c.1408C>T	c.(1408-1410)Cga>Tga	p.R470*	GLG1_uc002fcw.4_Nonsense_Mutation_p.R459*|GLG1_uc002fcy.4_Nonsense_Mutation_p.R470*|GLG1_uc002fcz.4_Intron	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	470						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTCTCCCCTCGAACTACTTTC	0.493000														176			46		0	0	1	0	0
GNAT1	2779	broad.mit.edu	37	3	50230697	50230697	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50230697G>T	uc003cym.2	+	3	266	c.150_splice	c.e3-1	p.K50_splice	GNAT1_uc003cyl.2_Splice_Site_p.K50_splice	NM_144499	NP_653082	P11488	GNAT1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 (GNAT1), transcript variant 1, mRNA.	50					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|acyl binding|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTCGGCCTCAGGATTATCCAC	0.612000											OREG0015579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		196			37		9.85521e-28	1.23557e-27	1	1	0
ZBTB2	57621	broad.mit.edu	37	6	151687588	151687588	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687588C>A	uc003qoh.3	-	2	748	c.613G>T	c.(613-615)Gaa>Taa	p.E205*		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GAAACAAGTTCTGGAGACAGC	0.582000														118			23		2.89027e-11	3.28353e-11	1	1	0
SLC52A2	79581	broad.mit.edu	37	8	145583404	145583404	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583404G>A	uc003zcc.2	+	2	416	c.252G>A	c.(250-252)gtG>gtA	p.V84V	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.V84V|SLC52A2_uc010mfy.2_Silent_p.V84V|SLC52A2_uc011llc.2_5'UTR|SLC52A2_uc003zcd.2_Silent_p.V84V	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	84						integral to plasma membrane	receptor activity|riboflavin transporter activity										TCCGGGTGGTGCAGGTGCTGG	0.642000														229			48		0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124422143	124422143	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124422143C>A	uc001ufw.1	-	4	605	c.458G>T	c.(457-459)aGc>aTc	p.S153I	CCDC92_uc001ufv.1_Missense_Mutation_p.S136I|CCDC92_uc001ufx.1_Missense_Mutation_p.S153I	NM_025140	NP_079416	Q53HC0	CCD92_HUMAN	Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA.	153										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGCGATGGTGCTGGCCCGCTG	0.622000														249			69		1.84395e-34	2.33251e-34	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48317894	48317894	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48317894C>T	uc003toq.2	+	17	7127	c.7103C>T	c.(7102-7104)gCc>gTc	p.A2368V		NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2368					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTAATGCCCTTCTCAGG	0.308000														27			4		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5773107	5773107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5773107C>T	uc001iij.3	+	10	1770	c.1145C>T	c.(1144-1146)tCg>tTg	p.S382L	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	382																	GACAACAGCTCGGACTCTCCA	0.428000														149			32		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886550	39886550	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39886550C>T	uc001zkh.3	+	20	3593	c.3414C>T	c.(3412-3414)atC>atT	p.I1138I	THBS1_uc010bbi.3_Silent_p.I610I	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1138	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAGGACCCATCTATGATAAAA	0.388000														108			14		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90578293	90578293	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90578293T>C	uc003pnr.3	+	7	5480	c.5284T>C	c.(5284-5286)Ttg>Ctg	p.L1762L	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.L1762L|CASP8AP2_uc011dzz.2_Silent_p.L1762L	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1762	NCOA2-binding.				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TGTGGAAGACTTGGGATGTGG	0.403000														40			6		0	0	1	0	0
PSMF1	9491	broad.mit.edu	37	20	1144966	1144966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1144966C>T	uc002wel.4	+	6	778	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	PSMF1_uc010zpo.2_Missense_Mutation_p.R116W|PSMF1_uc010zpp.2_Missense_Mutation_p.R142W|PSMF1_uc002wen.4_Missense_Mutation_p.R204W|PSMF1_uc002wep.4_Missense_Mutation_p.R155W	NM_178578	NP_848693	Q92530	PSMF1_HUMAN	Homo sapiens proteasome (prosome, macropain) inhibitor subunit 1 (PI31) (PSMF1), transcript variant 2, mRNA.	204	Pro-rich.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome core complex	endopeptidase inhibitor activity|protein binding	p.R204L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						CCTCAGGCCTCGGAGAGGTGG	0.552000														469			113		0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682402	114682402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114682402G>A	uc021osa.1	-	1	425	c.347C>T	c.(346-348)gCg>gTg	p.A116V	SYT6_uc021orz.1_Missense_Mutation_p.A31V|SYT6_uc001eev.3_Missense_Mutation_p.A31V	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	116					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCTTGTCCGCCATGTTGCC	0.622000														310			32		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24455729	24455729	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24455729T>C	uc002zzi.1	+	10	1429	c.1302T>C	c.(1300-1302)ttT>ttC	p.F434F	CABIN1_uc021wnc.1_Silent_p.F384F|CABIN1_uc002zzj.1_Silent_p.F384F|CABIN1_uc002zzl.2_Silent_p.F434F	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	434					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATGATTCCTTTAATAACTATG	0.443000														59			16		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115832009	115832009	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:115832009T>C	uc003krx.4	-	5	989	c.280_splice	c.e5-1	p.K94_splice	SEMA6A_uc010jck.3_Splice_Site_p.K94_splice	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	94	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		catgtcagtttctgcagggat	0.423000														99			26		0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74189713	74189713	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74189713G>T	uc010kav.3	+	5	1117	c.993G>T	c.(991-993)caG>caT	p.Q331H	MTO1_uc003pgy.4_Missense_Mutation_p.Q331H|MTO1_uc003pgz.4_Missense_Mutation_p.Q331H|MTO1_uc003pha.4_5'UTR|MTO1_uc003phb.4_Missense_Mutation_p.Q257H|MTO1_uc010kaw.1_Non-coding_Transcript	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	331					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GTCTACATCAGGTTTGGTTGG	0.383000											OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		87			15		1.99824e-07	2.15697e-07	1	1	0
MRPS31	10240	broad.mit.edu	37	13	41340970	41340970	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41340970T>C	uc001uxm.4	-	1	427	c.352A>G	c.(352-354)Aca>Gca	p.T118A		NM_005830	NP_005821	Q92665	RT31_HUMAN	Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA.	118						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGGGGCTTTGTTGTTCGTACA	0.378000														108			20		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122446723	122446723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122446723C>T	uc003efq.4	+	15	5065	c.5006C>T	c.(5005-5007)gCc>gTc	p.A1669V	PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.A1386V	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1669	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		ACTATGGATGCCAAGAATGGC	0.453000														58			16		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1538395	1538395	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1538395C>T	uc010uvf.2	-	0	74	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GTGGACCCCGCGTGGGAGTCC	0.667000														162			8		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696342	33696342	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696342G>A	uc010edh.3	+	4	759	c.666G>A	c.(664-666)gcG>gcA	p.A222A	LRP3_uc010xrp.1_Silent_p.A96A|LRP3_uc002nuk.4_Silent_p.A96A	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	222	LDL-receptor class A 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGCGGGGCGCGCTCCACGC	0.741000														41			9		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55739599	55739599	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55739599A>G	uc003pcq.3	-	0	777	c.65T>C	c.(64-66)gTg>gCg	p.V22A	BMP5_uc011dxf.2_Missense_Mutation_p.V22A	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	22					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGCATAACCCACTAGAACCCA	0.388000														229			50		0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7079535	7079535	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7079535G>T	uc001mfb.1	+	7	2810	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	829					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTCTCACAGAGGCTGGCTGTG	0.443000														117			29		3.73988e-18	4.50785e-18	1	1	0
GIT1	28964	broad.mit.edu	37	17	27910532	27910532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27910532C>T	uc002heg.2	-	1	369	c.155G>A	c.(154-156)cGc>cAc	p.R52H	GIT1_uc002hef.2_Missense_Mutation_p.R52H|GIT1_uc010wbg.1_Missense_Mutation_p.R52H	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	52	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGCTGTGGCGAAGGTGCTT	0.642000														64			17		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162865071	162865071	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162865071C>T	uc002ubz.3	-	22	2548	c.1987_splice	c.e22+1	p.D663_splice	DPP4_uc010fpb.3_Splice_Site_p.D339_splice	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	663				D -> E (in Ref. 2; AAA52308).	T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	CAATTACATACCATAGTACTC	0.478000														110			31		0	0	1	0	0
SLC25A39	51629	broad.mit.edu	37	17	42398537	42398537	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42398537C>T	uc002ign.2	-	7	734	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	SLC25A39_uc002igm.2_Missense_Mutation_p.V186M|SLC25A39_uc010wiw.1_Missense_Mutation_p.V171M|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	194					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CGGTACGACACATGCTGAGCC	0.627000														105			8		0	0	1	0	0
LOC392232	392232	broad.mit.edu	37	8	73157215	73157215	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73157215C>T	uc022avu.1	-	2		c.387G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		TCATCTACAGCACAGTGCAGA	0.418000														64			12		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114269970	114269970	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114269970G>A	uc003vhb.3	+	4	881	c.507G>A	c.(505-507)caG>caA	p.Q169Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q194Q|FOXP2_uc003vha.3_Silent_p.Q77Q|FOXP2_uc011kmv.2_Silent_p.Q169Q|FOXP2_uc011kmu.2_Silent_p.Q186Q|FOXP2_uc010ljz.2_Silent_p.Q77Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q169Q|FOXP2_uc003vgx.2_Silent_p.Q169Q|FOXP2_uc003vhc.3_Silent_p.Q194Q|FOXP2_uc003vhd.3_Silent_p.Q169Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	169	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						aacagcagcagcaacaacaac	0.502000														85			15		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206657010	206657010	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206657010G>A	uc002vaw.3	+	16	3282	c.2491_splice	c.e16+1	p.D831_splice	NRP2_uc002vax.3_Splice_Site_p.D826_splice|NRP2_uc002vay.3_Intron	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	831					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAAATTGATGGTGAGTACTGT	0.333000														135			6		0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23217627	23217627	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23217627G>A	uc003xdh.1	-	2	846	c.507C>T	c.(505-507)gaC>gaT	p.D169D	LOC100507156_uc003xdj.3_Intron	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	169					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TCAACGAATTGTCAAATTTGA	0.478000														116			19		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956804	57956804	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956804A>C	uc002qoq.2	+	2	2542	c.2288A>C	c.(2287-2289)aAc>aCc	p.N763T		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTTAAATACAACTCCAGCCTC	0.408000														121			21		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17757938	17757938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17757938G>A	uc009yhc.1	+	0	444	c.389G>A	c.(388-390)aGc>aAc	p.S130N	KCNC1_uc001mnk.4_Missense_Mutation_p.S130N	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	130						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGGACAACAGCGCCGACGAC	0.711000														57			24		0	0	1	0	0
C1orf74	148304	broad.mit.edu	37	1	209956447	209956447	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209956447C>T	uc001hhp.1	-	1	776	c.533G>A	c.(532-534)gGc>gAc	p.G178D	C1orf74_uc021pio.1_Missense_Mutation_p.G178D	NM_152485	NP_689698	Q96LT6	CA074_HUMAN	Homo sapiens chromosome 1 open reading frame 74 (C1orf74), mRNA.	178								p.L177M(1)|p.G178G(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		AACAGGATAGCCCAGGAGGAT	0.507000														138			45		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156908832	156908832	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156908832C>A	uc003lwz.3	-	21	2749	c.2670G>T	c.(2668-2670)caG>caT	p.Q890H	ADAM19_uc003lww.2_Intron|ADAM19_uc003lwy.3_Missense_Mutation_p.Q489H|ADAM19_uc021ygq.1_5'Flank|ADAM19_uc011ddr.1_Missense_Mutation_p.Q821H	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	890					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCGGGACTGCTGAGGGCCAG	0.687000														31			8		0.0381472	0.038366	1	1	0
LOC731789	731789	broad.mit.edu	37	10	26939577	26939577	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26939577A>G	uc001isu.4	+	3		c.5571A>G								Homo sapiens uncharacterized LOC731789 (LOC731789), non-coding RNA.																		CACATGCTGAAACATGGAAGG	0.562000														95			26		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111639200	111639200	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111639200G>A	uc010hqa.3	+	4	2346	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	PHLDB2_uc003dyc.3_Silent_p.E672E|PHLDB2_uc003dyd.3_Silent_p.E645E|PHLDB2_uc003dyg.3_Silent_p.E645E|PHLDB2_uc003dyh.3_Silent_p.E645E|PHLDB2_uc003dyi.3_Silent_p.E231E	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	645						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAGAAGGAGATTTTGGATC	0.353000														83			12		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55668952	55668952	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55668952C>T	uc002qjg.4	-	0	6	c.6G>A	c.(4-6)gcG>gcA	p.A2A	TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	2			A -> V (in CMD2A).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CTCACCCATCCGCCATGCTGA	0.687000														300			71		0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915676	119915676	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:119915676G>A	uc003vjj.1	+	0	1955	c.990G>A	c.(988-990)tcG>tcA	p.S330S		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	330					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TGCTTTTCTCGCTCACCATGG	0.502000														139			32		0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26409847	26409847	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26409847T>C	uc003nhv.3	+	4	1170	c.802T>C	c.(802-804)Tac>Cac	p.Y268H	BTN3A1_uc011dkj.2_Missense_Mutation_p.Y268H|BTN3A1_uc010jqj.3_Missense_Mutation_p.Y268H|BTN3A1_uc011dkk.2_Missense_Mutation_p.Y216H	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	268					lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGAGCCGGTTACTTCCTGTG	0.542000														228			45		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17150888	17150888	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17150888T>G	uc001mmq.4	-	11	2423	c.2358A>C	c.(2356-2358)gaA>gaC	p.E786D	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.E406D|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	786					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TGCCCAAAGCTTCTGGTCCCT	0.383000														99			25		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5964847	5964847	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5964847C>T	uc001alq.2	-	15	2241	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	658					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGTTCCTCGGCAGTCCTG	0.547000														187			16		0	0	1	0	0
CNP	1267	broad.mit.edu	37	17	40120260	40120260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40120260G>A	uc002hyl.1	+	1	322	c.178G>A	c.(178-180)Gga>Aga	p.G60R	CNP_uc010wfz.1_Missense_Mutation_p.G60R|CNP_uc002hym.1_Missense_Mutation_p.G40R|CNP_uc010wga.1_Intron|CNP_uc021txq.1_5'Flank	NM_033133	NP_149124	P09543	CN37_HUMAN	Homo sapiens 2',3'-cyclic nucleotide 3' phosphodiesterase (CNP), mRNA.	60					RNA metabolic process|cell killing|cyclic nucleotide catabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		CGGCCTGCCAGGAAGCGGCAA	0.602000														94			12		0	0	1	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734550	16734550	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16734550C>T	uc010vwr.1	-	3	911	c.469G>A	c.(469-471)Gca>Aca	p.A157T						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		ACGCCAGGTGCGGCATCCATC	0.597000														126			13		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822080	72822080	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822080C>T	uc002fck.3	-	9	10768	c.10095G>A	c.(10093-10095)caG>caA	p.Q3365Q	ZFHX3_uc002fcl.3_Silent_p.Q2451Q	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3365					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGGTATTGCTGGTACTGCT	0.592000														122			31		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341984	46341984	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46341984C>T	uc021qil.1	+	10	1863	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	CREB3L1_uc021qik.1_Silent_p.H476H|CREB3L1_uc001ncg.3_Silent_p.H110H	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	476					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACAGCACCCACGAGACCACCA	0.652000			T	FUS	myxofibrosarcoma									31			9		0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123794273	123794273	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123794273A>G	uc010tap.2	-	24	3426	c.3426T>C	c.(3424-3426)taT>taC	p.Y1142Y	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.Y1141Y|SBNO1_uc010taq.2_Silent_p.Y93Y|SBNO1_uc001ues.1_Silent_p.Y93Y	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1142							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTCCCATATCATATCTTCCAT	0.398000														137			16		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119727762	119727762	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119727762G>T	uc002tln.1	+	2	404	c.272G>T	c.(271-273)aGc>aTc	p.S91I	MARCO_uc010yyf.1_Missense_Mutation_p.S13I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	91					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GCTGAGGACAGCCCGTCCTTC	0.607000														167			15		1.52009e-12	1.75732e-12	1	1	0
ARFGAP1	55738	broad.mit.edu	37	20	61912699	61912699	+	Splice_Site	SNP	C	T	T	rs6122111		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61912699C>T	uc002yem.3	+	8	796	c.684_splice	c.e8+1	p.G228_splice	ARFGAP1_uc011aas.1_Splice_Site_p.G175_splice|ARFGAP1_uc011aat.1_Splice_Site_p.G115_splice|ARFGAP1_uc002yel.3_Splice_Site_p.G228_splice|ARFGAP1_uc002yen.3_Splice_Site_p.G228_splice	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	228					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCAAGGAGGGCGTAAGTCACT	0.662000														26			5		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641685	55641685	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55641685T>G	uc010spg.2	+	0	614	c.614T>G	c.(613-615)cTc>cGc	p.L205R		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T204M(1)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATTTTGACGCTCCTGGTTACA	0.368000														135			6		0	0	1	0	0
ADARB2-AS1	642394	broad.mit.edu	37	10	1598859	1598859	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1598859C>T	uc001ign.3	+	1	324	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S	ADARB2_uc009xhq.3_Intron					Homo sapiens ADARB2 antisense RNA 1 (non-protein coding) (ADARB2-AS1), non-coding RNA.																		TCCAAGTACCCCGGCTGCAAC	0.587000														42			11		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31537445	31537445	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31537445G>A	uc010dmi.3	-	7	1571	c.1273C>T	c.(1273-1275)Cga>Tga	p.R425*	NOL4_uc010xbs.2_Nonsense_Mutation_p.R140*|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Nonsense_Mutation_p.R351*|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	425						nucleolus	RNA binding	p.D424N(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGGACCATTCGGTCCAAGTTT	0.488000														59			11		0	0	1	0	0
NR1I3	9970	broad.mit.edu	37	1	161201197	161201197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161201197G>A	uc001fzx.3	-	5	819	c.616C>T	c.(616-618)Ctc>Ttc	p.L206F	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.L206F|NR1I3_uc001fzm.3_Missense_Mutation_p.L131F|NR1I3_uc001fzn.3_Missense_Mutation_p.L39F|NR1I3_uc001fzf.3_Missense_Mutation_p.L206F|NR1I3_uc009wug.3_Missense_Mutation_p.L39F|NR1I3_uc001fzo.3_Missense_Mutation_p.L39F|NR1I3_uc001fzt.3_Missense_Mutation_p.L39F|NR1I3_uc001fzs.3_Missense_Mutation_p.L39F|NR1I3_uc001fzr.3_Silent_p.Y102Y|NR1I3_uc001fzq.3_Silent_p.Y102Y|NR1I3_uc001fzv.3_Silent_p.Y73Y|NR1I3_uc001fzu.3_Silent_p.Y73Y|NR1I3_uc001fzy.3_Missense_Mutation_p.L206F|NR1I3_uc001fzw.3_Missense_Mutation_p.L206F|NR1I3_uc001fzz.3_Missense_Mutation_p.L206F|NR1I3_uc001fzh.3_Missense_Mutation_p.L177F|NR1I3_uc001gab.3_Missense_Mutation_p.L206F|NR1I3_uc001gac.3_Missense_Mutation_p.L177F|NR1I3_uc001fzp.3_Missense_Mutation_p.L206F|NR1I3_uc001fzg.3_Missense_Mutation_p.L177F|NR1I3_uc001gaa.3_Missense_Mutation_p.L206F|NR1I3_uc001fzj.3_Missense_Mutation_p.L177F|NR1I3_uc001fzi.3_Missense_Mutation_p.L177F|NR1I3_uc001fzl.3_Missense_Mutation_p.L177F|NR1I3_uc001fzk.3_Missense_Mutation_p.L177F|NR1I3_uc010pkm.2_Missense_Mutation_p.L177F|NR1I3_uc010pkn.1_Missense_Mutation_p.L206F	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	206					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GTGGTATTGAGTACGATGTGA	0.483000														154			68		0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47467101	47467101	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47467101C>T	uc003crh.1	-	8	1166	c.911_splice	c.e8-1	p.R304_splice	SCAP_uc011baz.1_Splice_Site_p.R49_splice|SCAP_uc003crg.2_Intron	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	304	SSD.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		GTCGATCTTCCCTGGAGGGCA	0.652000														136			27		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589472	156589472	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156589472T>G	uc003lwn.3	-	1	1904	c.1804A>C	c.(1804-1806)Acc>Ccc	p.T602P		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	602						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)			ATGGATTTGGTTTCAAAGACG	0.498000														318			26		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15794373	15794373	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15794373C>A	uc002nbl.3	+	6	837	c.718C>A	c.(718-720)Ctc>Atc	p.L240I		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.I239I(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCAGCATATCCTCCAGCACAT	0.562000														221			49		2.24722e-20	2.74335e-20	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109367806	109367806	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109367806C>T	uc002tem.4	+	9	1486	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	454					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	p.R454Q(1)	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						ACCTGGAATCCGAAAATGGCT	0.388000														178			55		0	0	1	0	0
LINC00207	388910	broad.mit.edu	37	22	44965315	44965315	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44965315C>T	uc011aqg.2	+	0		c.96C>T			LINC00207_uc021wre.1_Non-coding_Transcript|LINC00207_uc011aqh.2_Non-coding_Transcript					Homo sapiens long intergenic non-protein coding RNA 207 (LINC00207), transcript variant 1, non-coding RNA.											lung(3)	3						aggcgtgtgacatgggagtaa	0.448000														72			16		0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671386	112671386	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112671386C>T	uc003pvx.1	+	2	788	c.476C>T	c.(475-477)tCc>tTc	p.S159F	RFPL4B_uc021zdy.1_Missense_Mutation_p.S159F	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	159	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGTCATGGTCCCTGGGCGTC	0.547000														122			20		0	0	1	0	0
CDC6	990	broad.mit.edu	37	17	38445693	38445693	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38445693G>T	uc002huj.1	+	1	231	c.21G>T	c.(19-21)caG>caT	p.Q7H		NM_001254	NP_001245	Q99741	CDC6_HUMAN	Homo sapiens cell division cycle 6 homolog (S. cerevisiae) (CDC6), mRNA.	7					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|mitosis|negative regulation of DNA replication|negative regulation of cell proliferation|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CCCGATCCCAGGCACAGGCTA	0.403000														92			8		0.0381472	0.038366	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144855838	144855838	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144855838C>G	uc021ouh.1	-	40	7017	c.6715G>C	c.(6715-6717)Gcc>Ccc	p.A2239P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.A2239P|PDE4DIP_uc001elx.4_Missense_Mutation_p.A2133P|PDE4DIP_uc001elv.4_Missense_Mutation_p.A1246P	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2239					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGCAGGGCACTGGTGCTG	0.582000			T	PDGFRB	MPD									116			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870231	140870231	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870231C>T	uc003lla.2	+	0	1424	c.1424C>T	c.(1423-1425)aCt>aTt	p.T475I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.T475I	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	475	Cadherin 5.				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)			CTTCTTTGCACTGTGGCTGCC	0.527000														353			64		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33953440	33953440	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33953440A>G	uc003ztq.1	-	11	1012	c.899T>C	c.(898-900)gTt>gCt	p.V300A	UBAP2_uc011loc.1_Missense_Mutation_p.V209A|UBAP2_uc011lod.1_Missense_Mutation_p.V33A|UBAP2_uc011loe.1_Missense_Mutation_p.V55A|UBAP2_uc011lof.1_Missense_Mutation_p.V225A|UBAP2_uc011log.1_Missense_Mutation_p.V246A|UBAP2_uc003ztr.2_Missense_Mutation_p.V172A|SNORD121A_uc010mjz.3_5'Flank	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	300										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGTGAGGAACAGGCTTCTG	0.453000														90			15		0	0	1	0	0
STOML2	30968	broad.mit.edu	37	9	35101490	35101490	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35101490C>T	uc003zwi.3	-	5	575	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_uc011lou.2_Intron	NM_013442	NP_038470	Q9UJZ1	STML2_HUMAN	Homo sapiens stomatin (EPB72)-like 2 (STOML2), mRNA.	171						cytoskeleton	receptor binding	p.R171C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567000														291			29		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22059428	22059428	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22059428C>T	uc003xbg.3	+	15	2486	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	BMP1_uc003xbf.3_3'UTR|BMP1_uc003xbb.3_3'UTR|BMP1_uc003xbc.3_3'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.H489H|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	740	EGF-like 2; calcium-binding (Potential).				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACAACAAGCACGACTGCAAAG	0.592000														50			5		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964196	70964196	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70964196C>T	uc003pfg.4	-	24	1861	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R	COL9A1_uc003pfe.4_Missense_Mutation_p.G141R|COL9A1_uc003pff.4_Missense_Mutation_p.G325R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	568	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCCTGCAATCCTGCATCACCA	0.373000														81			14		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648459	62648459	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62648459G>A	uc001jli.3	-	6	1405	c.967C>T	c.(967-969)Cgg>Tgg	p.R323W	RHOBTB1_uc009xpe.2_Missense_Mutation_p.R261W|RHOBTB1_uc001jlh.3_Missense_Mutation_p.R323W|RHOBTB1_uc001jlj.3_Missense_Mutation_p.R323W|RHOBTB1_uc001jlk.3_Missense_Mutation_p.R323W	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	323	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTCAATATCCGCCCCTGGAAA	0.502000														164			10		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135583384	135583384	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135583384G>A	uc003lbn.2	-	6	1841	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L	TRPC7_uc010jef.2_Missense_Mutation_p.S476L|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.S91L|TRPC7_uc010jeh.2_Missense_Mutation_p.S479L|TRPC7_uc010jei.2_Missense_Mutation_p.S424L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	540					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCCCTTCCGATATGATCTG	0.522000														139			41		0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72239558	72239558	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239558C>T	uc002jkc.3	+	4	712	c.681C>T	c.(679-681)tgC>tgT	p.C227C	TTYH2_uc010wqw.2_Silent_p.C206C	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	227						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGTCATCTGCCTCATTGCCT	0.607000														180			42		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35433281	35433281	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35433281C>T	uc021wcx.1	-	9	3284	c.2944G>A	c.(2944-2946)Gcc>Acc	p.A982T	SOGA1_uc002xgd.1_Missense_Mutation_p.A744T	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	744										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TTCATGTCGGCCAGTGTCTTG	0.577000														109			11		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152537333	152537333	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152537333G>A	uc021vrb.1	-	27	2982	c.2953C>T	c.(2953-2955)Cgc>Tgc	p.R985C	NEB_uc002txu.3_Missense_Mutation_p.R985C|NEB_uc021vrc.1_Missense_Mutation_p.R985C|NEB_uc010fnx.3_Missense_Mutation_p.R985C|NEB_uc021vrd.1_Missense_Mutation_p.R985C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	985					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGATGTTGGCGATATTTTTTC	0.353000														133			50		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373496	373496	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373496C>A	uc001lpb.3	+	6	693	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	228						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTCAGCTCCCAGGTGTCCA	0.622000														183			26		2.44723e-14	2.87423e-14	1	1	0
FTMT	94033	broad.mit.edu	37	5	121187676	121187676	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121187676G>A	uc003kss.3	+	0	27	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	6					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTGCTTCAGGCTCCTCTCCA	0.697000														182			43		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20966215	20966215	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20966215G>A	uc010vbe.2	-	54	10991	c.10991C>T	c.(10990-10992)gCg>gTg	p.A3664V	DNAH3_uc010vbd.2_Missense_Mutation_p.A1099V	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3664	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCACATCACCGCCTTTGCACA	0.527000														224			57		0	0	1	0	0
CHAF1B	8208	broad.mit.edu	37	21	37781761	37781761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37781761C>T	uc002yvj.3	+	9	1055	c.917C>T	c.(916-918)aCa>aTa	p.T306I		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	306					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GTGGTGGAAACAGGTATCCTC	0.512000														217			70		0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260657	45260657	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45260657C>T	uc010xxe.2	+	4	868	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_005178	NP_005169	P20749	BCL3_HUMAN	Homo sapiens B-cell CLL/lymphoma 3 (BCL3), mRNA.	266					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				AGCGCGGTGCCGACATCGACG	0.687000			T	IGH@	CLL									27			4		0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30873798	30873798	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30873798C>T	uc001rji.1	-	11	2846	c.2095G>A	c.(2095-2097)Gat>Aat	p.D699N	CAPRIN2_uc001rjf.1_Missense_Mutation_p.D496N|CAPRIN2_uc001rjg.1_Missense_Mutation_p.D366N|CAPRIN2_uc001rjh.1_Missense_Mutation_p.D699N|CAPRIN2_uc001rjk.4_Missense_Mutation_p.D699N|CAPRIN2_uc001rjj.1_Missense_Mutation_p.D366N|CAPRIN2_uc001rjl.4_Intron|CAPRIN2_uc001rjm.1_Intron	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	699					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	RNA binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAAGCCTGATCGGTAGTAACC	0.368000														91			24		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27263359	27263359	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27263359A>G	uc002ria.4	+	15	2048	c.1938A>G	c.(1936-1938)gcA>gcG	p.A646A	TMEM214_uc002rib.4_Silent_p.A601A	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	646						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCCATGAGGCATGCAGGTGAG	0.637000														120			37		0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102368104	102368104	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102368104G>T	uc001yko.3	+	8	1041	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	PPP2R5C_uc010txr.2_Nonsense_Mutation_p.E332*|PPP2R5C_uc001ykk.3_Nonsense_Mutation_p.E356*|PPP2R5C_uc010txt.2_Nonsense_Mutation_p.E291*|PPP2R5C_uc001ykn.3_Nonsense_Mutation_p.E301*|PPP2R5C_uc001ykp.3_Nonsense_Mutation_p.E301*|PPP2R5C_uc001ykq.3_Nonsense_Mutation_p.E199*	NM_002719	NP_002710	Q13362	2A5G_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', gamma (PPP2R5C), transcript variant 1, mRNA.	301					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAGTCCAAAAGAAGTAATGTT	0.443000														121			34		1.61788e-16	1.92999e-16	1	1	0
ROBO2	6092	broad.mit.edu	37	3	75986709	75986709	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75986709T>C	uc021xat.1	+	0	65	c.65T>C	c.(64-66)aTg>aCg	p.M22T		NM_001128929	NP_001122401	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 1, mRNA.	0					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTGTTGATGATGACTGTGGTG	0.463000														29			6		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417408	54417408	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417408A>G	uc001xal.4	-	2	756	c.569T>C	c.(568-570)gTg>gCg	p.V190A	BMP4_uc010aoh.3_Missense_Mutation_p.V190A|BMP4_uc001xao.4_Missense_Mutation_p.V190A|BMP4_uc001xan.4_Missense_Mutation_p.V190A	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	190					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						CCCAGGCACCACTTCTGCTGG	0.567000														120			24		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57091998	57091998	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57091998C>T	uc021tiu.1	+	26	3895	c.3768C>T	c.(3766-3768)ggC>ggT	p.G1256G	NLRC5_uc021tiv.1_Silent_p.G1060G|NLRC5_uc021tiw.1_Silent_p.G1030G|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Silent_p.G143G	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1256					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)				ACCTGCTGGGCGACAGCGGAC	0.577000														34			6		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573870	64573870	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573870G>T	uc010qio.2	-	2	587	c.567C>A	c.(565-567)ggC>ggA	p.G189G	EGR2_uc010qim.2_Silent_p.G176G|EGR2_uc010qin.2_Silent_p.G126G|EGR2_uc001jmi.3_Silent_p.G176G|EGR2_uc009xph.3_Silent_p.G176G	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	176					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CTCCTGCACAGCCAGAATAAG	0.622000														204			37		1.06647e-15	1.26527e-15	1	1	0
ZNF805	390980	broad.mit.edu	37	19	57764897	57764897	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57764897G>A	uc010ygt.2	+	3	917	c.710G>A	c.(709-711)gGa>gAa	p.G237E	ZNF805_uc010ygu.2_Missense_Mutation_p.G104E|ZNF805_uc021vcj.1_Missense_Mutation_p.G104E	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACAGAGTGTGGAAAAACCTTT	0.468000														37			8		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145024727	145024727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024727G>A	uc003zaf.1	-	0	318	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	50	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCATGGCACGCATGACCTGC	0.667000														39			4		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25605662	25605662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25605662C>T	uc001zaq.3	-	7	2390	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.A521T|UBE3A_uc001zas.3_Missense_Mutation_p.A541T|UBE3A_uc001zat.3_Missense_Mutation_p.A521T	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	544					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTTTCCATAGCGATCATCTCT	0.353000														51			12		0	0	1	0	0
ZNF337	26152	broad.mit.edu	37	20	25657080	25657080	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25657080G>A	uc002wva.3	-	3	1366	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.H250Y|ZNF337_uc002wvc.3_Missense_Mutation_p.H282Y	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTCTCATGCACAGTGAGG	0.502000														249			56		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28541211	28541211	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28541211C>T	uc003nlo.3	-	3	3073	c.2455G>A	c.(2455-2457)Gct>Act	p.A819T		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	819					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.S818C(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gcccgcaaagcactaatgttt	0.373000														133			27		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	263943	263943	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000192.1:263943A>C	uc010yij.1	-	12		c.2113T>G				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGATTTATCAGTCTCACATA	0.512000														34			10		0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130022008	130022008	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130022008G>T	uc003vpx.3	+	3	513	c.441G>T	c.(439-441)caG>caT	p.Q147H	CPA1_uc011kpf.1_Missense_Mutation_p.Q59H|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	147					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAAGATCCAGATTGGCAACA	0.522000														116			24		7.88262e-20	9.60081e-20	1	1	0
CNOT2	4848	broad.mit.edu	37	12	70731292	70731292	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70731292C>A	uc001svv.3	+	9	1482	c.900_splice	c.e9+1	p.S300_splice	CNOT2_uc009zro.3_Splice_Site_p.S300_splice|CNOT2_uc009zrp.3_Splice_Site_p.S280_splice|CNOT2_uc009zrq.3_Splice_Site_p.S300_splice|CNOT2_uc001svw.1_Splice_Site_p.S40_splice	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	300					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GACAGTAAATCTGTAAGTAAC	0.328000														60			9		0.000274275	0.000282808	1	1	0
RYR3	6263	broad.mit.edu	37	15	34040438	34040438	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34040438C>T	uc001zhi.3	+	53	8183	c.8113C>T	c.(8113-8115)Cga>Tga	p.R2705*	RYR3_uc010bar.3_Nonsense_Mutation_p.R2705*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2705	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2705Q(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAGAAGCTTCGAAGTGTGTC	0.572000														78			15		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36351456	36351456	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36351456G>A	uc002ocb.4	+	6	1027	c.815G>A	c.(814-816)cGc>cAc	p.R272H	KIRREL2_uc002obz.4_Missense_Mutation_p.R272H|KIRREL2_uc002oca.4_Missense_Mutation_p.R222H|KIRREL2_uc002ocd.4_Missense_Mutation_p.R269H	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	272	Ig-like C2-type 3.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGGCCCGCGGGCCAAGG	0.652000														204			55		0	0	1	0	0
DUSP14	11072	broad.mit.edu	37	17	35872880	35872880	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35872880C>T	uc002hnx.2	+	2	800	c.506C>T	c.(505-507)tCg>tTg	p.S169L	DUSP14_uc002hnz.2_Missense_Mutation_p.S156L|DUSP14_uc021tvt.1_Missense_Mutation_p.S169L	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	169							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TTTGGGAAGTCGACAGTTAAA	0.537000														151			33		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036817	193036817	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036817T>C	uc011bsq.2	-	16	1996	c.1996A>G	c.(1996-1998)Aag>Gag	p.K666E		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	666					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCCCCATCTTTAAGGTTTTG	0.498000														179			50		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56958693	56958693	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56958693C>T	uc002adu.3	-	15	2111	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	ZNF280D_uc002adv.3_Missense_Mutation_p.E619K|ZNF280D_uc010bfq.3_Missense_Mutation_p.E632K|ZNF280D_uc002adw.1_Missense_Mutation_p.E660K|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc010bfp.3_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCTTTTATTTCGGAACAACAC	0.333000														103			27		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109768373	109768373	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768373G>T	uc011eaq.2	-	16	2478	c.2187C>A	c.(2185-2187)ctC>ctA	p.L729L	MICAL1_uc003ptj.3_Silent_p.L710L|MICAL1_uc003ptk.3_Silent_p.L710L|MICAL1_uc010kdr.3_Silent_p.L624L	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	710	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CGTTGACACAGAGGCGTTCCA	0.627000														176			39		4.67007e-22	5.74789e-22	1	1	0
MUC16	94025	broad.mit.edu	37	19	9090171	9090171	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090171G>T	uc002mkp.3	-	0	1848	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	548	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						TTGATGCTGGGGGTCTCTCTG	0.527000														90			20		4.35082e-09	4.81328e-09	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68200271	68200271	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68200271C>T	uc003xxo.2	-	6	1336	c.946G>A	c.(946-948)Gga>Aga	p.G316R		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	316			G -> E (in a colorectal cancer sample; somatic mutation).		exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	p.G316E(1)		breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGGTTTTCTCCGTCATATAAC	0.294000														94			15		0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43886389	43886389	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43886389T>G	uc010skx.2	-	5	995	c.995A>C	c.(994-996)aAc>aCc	p.N332T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	332	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGAACAAAAGTTCTTTAATGT	0.363000														39			10		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100637318	100637318	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637318C>T	uc001von.3	+	1	1487	c.1194C>T	c.(1192-1194)tgC>tgT	p.C398C		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	398					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAGATGTGCGACAAGTCCT	0.647000														168			48		0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884176	110884176	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110884176C>T	uc001dzl.1	+	0	2232	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	RBM15_uc001dzm.1_Nonsense_Mutation_p.R717*|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Nonsense_Mutation_p.R717*	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	717	Arg-rich.				interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTGACAAGCGAGACCGTAA	0.502000			T	MKL1	acute megakaryocytic leukemia									151			12		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113238174	113238174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113238174G>A	uc001eck.3	+	10	2027	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.R586H|MOV10_uc001ecm.3_Missense_Mutation_p.R526H|MOV10_uc009wgj.1_Missense_Mutation_p.R526H	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	586					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	p.R586L(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGGGACATCCGCATGGTACCT	0.602000														58			9		0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725792	55725792	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55725792T>C	uc010spj.2	+	0	308	c.308T>C	c.(307-309)tTc>tCc	p.F103S		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TTCTTTATCTTCATGGGGGTG	0.418000														174			34		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149937711	149937711	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149937711C>A	uc001etn.3	-	4	951	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S	OTUD7B_uc001eto.3_Missense_Mutation_p.A120S	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	199	Catalytic.|OTU.|TRAF-binding.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAAGGGAGGCTGCATGCAGG	0.507000														49			6		0.0215528	0.0217347	1	1	0
TRPM5	29850	broad.mit.edu	37	11	2436266	2436266	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2436266C>T	uc010qxl.2	-	9	1500	c.1491G>A	c.(1489-1491)ccG>ccA	p.P497P	TRPM5_uc001lwm.4_Silent_p.P497P|TRPM5_uc009ydn.3_Silent_p.P499P	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	497						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCCGCTTGGCCGGGCCCTTCT	0.726000														73			9		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29781263	29781263	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:29781263T>G	uc003cel.3	+	4	822	c.452T>G	c.(451-453)aTg>aGg	p.M151R	RBMS3_uc010hfq.3_Missense_Mutation_p.M151R|RBMS3_uc003cek.3_Missense_Mutation_p.M151R|RBMS3_uc010hfr.3_Missense_Mutation_p.M151R|RBMS3_uc003cem.3_Missense_Mutation_p.M150R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	151	RRM 2.					cytoplasm	RNA binding|nucleotide binding	p.M151V(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CCCATTTCTATGGATGAGCAG	0.408000														164			41		0	0	1	0	0
NDUFA6	4700	broad.mit.edu	37	22	42482233	42482233	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42482233C>A	uc003bcb.3	-	2	481	c.419G>T	c.(418-420)aGg>aTg	p.R140M		NM_002490	NP_002481	P56556	NDUA6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa (NDUFA6), nuclear gene encoding mitochondrial protein, mRNA.	140					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5					NADH(DB00157)	ATCCTTTGGCCTTGGCGCTTC	0.428000														149			35		9.17885e-22	1.12858e-21	1	1	0
FAT2	2196	broad.mit.edu	37	5	150948345	150948345	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150948345T>C	uc003lue.4	-	0	161	c.148A>G	c.(148-150)Acc>Gcc	p.T50A	FAT2_uc010jhx.1_Missense_Mutation_p.T50A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	50	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCACATAGGTCTTGGGAGAA	0.502000														234			59		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655931	46655931	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655931T>C	uc003bhh.3	-	0	3289	c.3289A>G	c.(3289-3291)Att>Gtt	p.I1097V		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1097					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAAATAGAAATTCTCACTAGC	0.473000														116			7		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492786	21492786	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21492786C>T	uc002wsi.3	-	1	954	c.597G>A	c.(595-597)tcG>tcA	p.S199S		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	199					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCGGCGCGGCGAGGGCAGGG	0.672000														143			17		0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179292	33179292	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179292G>A	uc003odk.3	+	4	1007	c.813G>A	c.(811-813)ctG>ctA	p.L271L	RING1_uc011dqx.1_Silent_p.L271L|RING1_uc003odl.3_Silent_p.L242L	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	271	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						CCCACCCCCTGCTCGTGGAGA	0.627000														71			21		0	0	1	0	0
INTS7	25896	broad.mit.edu	37	1	212151704	212151704	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212151704C>T	uc001hiw.2	-	10	1603	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	INTS7_uc001hix.2_Silent_p.L336L|INTS7_uc009xdb.2_Silent_p.L460L|INTS7_uc001hiy.2_Silent_p.L460L|INTS7_uc010pta.2_Silent_p.L411L	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	460					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCAGCACCGGCAGTTGCATGG	0.522000														189			33		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66718889	66718889	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66718889A>G	uc001sti.2	+	10	2681	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	885					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ATGGGCAAGAACTATTCACAC	0.343000														77			13		0	0	1	0	0
BASP1	10409	broad.mit.edu	37	5	17275470	17275470	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:17275470G>A	uc003jfx.3	+	1	324	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	BASP1_uc021xws.1_Missense_Mutation_p.A49T	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	49					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CGCAGAGCCCGCCGAGGCCAA	0.697000														40			8		0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921228	247921228	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247921228C>T	uc010pza.2	-	0	481	c.481G>A	c.(481-483)Gtc>Atc	p.V161I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GCTATTAGGACAGTATGCAGG	0.507000														68			23		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7810694	7810694	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7810694A>G	uc002gjd.2	+	31	4991	c.4989A>G	c.(4987-4989)ccA>ccG	p.P1663P	CHD3_uc002gje.2_Silent_p.P1604P|CHD3_uc002gjf.2_Silent_p.P1604P|CHD3_uc002gjh.2_Silent_p.P180P|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1604	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GCCCAGCCCCATCACTTGGGG	0.647000														85			16		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105177065	105177065	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105177065G>T	uc003vda.1	+	2	373	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	48					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGAAGGTACAGATAATGGTGA	0.338000														101			22		1.10923e-09	1.2355e-09	1	1	0
MBLAC2	153364	broad.mit.edu	37	5	89770000	89770000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89770000C>T	uc003kjp.3	-	0	586	c.110G>A	c.(109-111)gGc>gAc	p.G37D	POLR3G_uc003kjq.3_5'Flank|POLR3G_uc011cuc.2_5'Flank	NM_203406	NP_981951	Q68D91	MBLC2_HUMAN	Homo sapiens metallo-beta-lactamase domain containing 2 (MBLAC2), mRNA.	37							hydrolase activity|metal ion binding			kidney(1)|liver(1)|lung(3)	5						CTGCTCGGAGCCGCGCACCAG	0.607000														29			5		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665011	6665011	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6665011C>T	uc002mfk.2	-	4	1031	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	TNFSF14_uc002mfj.2_Missense_Mutation_p.V181I	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	217					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.V216V(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AGCACACGGACGACCACCTTC	0.622000														213			38		0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9821334	9821334	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9821334T>C	uc002gmg.1	-	12	1462	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	GAS7_uc010vvc.1_Missense_Mutation_p.D248G|GAS7_uc002gmh.1_Missense_Mutation_p.D294G|GAS7_uc010vvd.1_Missense_Mutation_p.D386G|GAS7_uc002gmi.2_Missense_Mutation_p.D370G|GAS7_uc002gmj.1_Missense_Mutation_p.D374G|GAS7_uc010coh.1_Missense_Mutation_p.D374G	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	434					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTTGAACATGTCTGTTTCATG	0.637000			T	MLL	AML*									78			15		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48790367	48790367	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48790367A>C	uc003xqi.3	-	40	5335	c.5278T>G	c.(5278-5280)Ttg>Gtg	p.L1760V	PRKDC_uc003xqj.3_Missense_Mutation_p.L1760V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1761					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTGTCATCAATTCCAACAAC	0.368000								Non-homologous end-joining						90			19		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119145758	119145758	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119145758C>T	uc003ibx.3	+	6	2055	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	NDST3_uc011cgf.1_Missense_Mutation_p.T470I	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	551	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CGACTTCAGACTCTGCCTCCA	0.418000														110			13		0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70182500	70182500	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70182500C>A	uc021pru.1	-	14	2614	c.2614G>T	c.(2614-2616)Ggg>Tgg	p.G872W	DNA2_uc021prt.1_Missense_Mutation_p.G872W|DNA2_uc021prv.1_Missense_Mutation_p.G43W|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	786					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGATGGTCCCCCACTAACACA	0.408000														49			23		1.22574e-08	1.34739e-08	1	1	0
UBC	7316	broad.mit.edu	37	12	125397088	125397088	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125397088G>A	uc001ugs.4	-	1	1688	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Silent_p.I410I	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	410	Ubiquitin-like 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCTTGTCTTGGATCTTTGCCT	0.517000														306			29		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690369	106690369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106690369C>T	uc010fjf.3	+	2	263	c.155C>T	c.(154-156)gCc>gTc	p.A52V		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	52			A -> T (in dbSNP:rs10187689).			extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						ACTAAAGTGGCCGTTGATGAG	0.522000														332			53		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101090473	101090473	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101090473C>T	uc010qpi.2	+	0	1618	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	CNNM1_uc009xwe.3_Silent_p.R443R|CNNM1_uc001kpp.4_Silent_p.R443R|CNNM1_uc009xwf.3_Silent_p.R443R	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	443	CBS 1.				ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		TCATGCTGCGCTCAGACGCGG	0.612000														112			22		0	0	1	0	0
TP53INP2	58476	broad.mit.edu	37	20	33296666	33296666	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33296666G>A	uc002xau.1	+	3	459	c.124_splice	c.e3+1	p.D42_splice	TP53INP2_uc021wcc.1_5'Flank	NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 2 (TP53INP2), mRNA.	42						nucleus				endometrium(1)|urinary_tract(1)	2						TTGACCTGCCGGGTGAGGCCT	0.667000														64			20		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81554371	81554371	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81554371C>A	uc001xvd.1	+	4	548	c.392_splice	c.e4+1	p.L131_splice	TSHR_uc001xvb.1_Splice_Site_p.L131_splice|TSHR_uc001xvc.3_Splice_Site_p.L131_splice|TSHR_uc010tvs.2_Splice_Site_p.L131_splice	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	131					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CCTAAAGTTCCTGTAAGTATT	0.458000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							64			17		1.67942e-08	1.84125e-08	1	1	0
ZNF462	58499	broad.mit.edu	37	9	109689396	109689396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689396G>A	uc004bcz.3	+	2	3492	c.3203G>A	c.(3202-3204)cGa>cAa	p.R1068Q	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.R916Q|ZNF462_uc004bda.3_Missense_Mutation_p.R916Q	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1068					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R1068*(1)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAAACTATGCGAATGGTGTCT	0.483000														193			42		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652276	88652276	+	Missense_Mutation	SNP	C	T	T	rs144714447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88652276C>T	uc001xwm.3	-	6	1357	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	KCNK10_uc001xwn.3_Missense_Mutation_p.R412H|KCNK10_uc001xwo.3_Missense_Mutation_p.R407H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	407					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GGCCTTGAAGCGGCCGGTGTC	0.667000														178			46		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13597566	13597566	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13597566A>C	uc003gmz.1	-	11	8139	c.8022T>G	c.(8020-8022)gcT>gcG	p.A2674A		NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2674							DNA binding										AAGGCACATAAGCCTAAAAAA	0.393000														162			19		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857634	144857634	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144857634C>T	uc021ouh.1	-	38	6722	c.6420G>A	c.(6418-6420)acG>acA	p.T2140T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.T2140T|PDE4DIP_uc001elx.4_Silent_p.T2034T|PDE4DIP_uc001elv.4_Silent_p.T1147T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2140					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGATTATGGGCGTTTCTGAGC	0.483000			T	PDGFRB	MPD									444			36		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554076	140554076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554076G>A	uc003lit.3	+	0	1834	c.1660G>A	c.(1660-1662)Gcc>Acc	p.A554T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	554	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.726000														292			68		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76369557	76369557	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76369557G>A	uc021rkq.1	+	4	673	c.338G>A	c.(337-339)aGa>aAa	p.R113K	LMO7_uc010thv.2_Missense_Mutation_p.R165K|LMO7_uc001vjt.1_Missense_Mutation_p.R113K|LMO7_uc001vjv.3_5'UTR|LMO7_uc010thw.2_Missense_Mutation_p.R74K|LMO7_uc001vju.1_Non-coding_Transcript	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	165	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.N113S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTGACAGGAGAGTGAAAAAT	0.303000														98			15		0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34997011	34997011	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34997011G>A	uc021wio.1	-	2	302	c.122C>T	c.(121-123)gCt>gTt	p.A41V	DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Missense_Mutation_p.A65V|CRYZL1_uc002yss.1_Non-coding_Transcript|CRYZL1_uc002yst.1_Non-coding_Transcript|CRYZL1_uc002ysu.3_Missense_Mutation_p.A41V	NM_145858	NP_665857	O95825	QORL1_HUMAN	Homo sapiens crystallin, zeta (quinone reductase)-like 1 (CRYZL1), mRNA.	41					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						CTGGCTCAGAGCACAAGCTTT	0.308000														67			14		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150877688	150877688	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150877688T>C	uc003eyp.3	+	6	1036	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.S303P|MED12L_uc003eyo.3_Missense_Mutation_p.S303P	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	303					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCGGCGTCTTTCCTTGCTGCT	0.557000														343			71		0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47495763	47495763	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47495763C>T	uc001cqt.3	+	1	529	c.279C>T	c.(277-279)atC>atT	p.I93I	CYP4X1_uc001cqr.3_Silent_p.I92I|CYP4X1_uc001cqs.3_Silent_p.I28I	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	93						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TTTTCTGTATCTATGACCCAG	0.433000														120			18		0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11967016	11967016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11967016G>A	uc010bux.3	-	14	2143	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	GSPT1_uc002dbu.3_Missense_Mutation_p.A624V|GSPT1_uc002dbt.3_Missense_Mutation_p.A625V	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	487					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTTTCCAATTGCAATGGTCTT	0.308000														115			24		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150704352	150704352	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150704352G>T	uc003wif.3	+	16	2396	c.2100G>T	c.(2098-2100)caG>caT	p.Q700H	NOS3_uc011kuy.2_Missense_Mutation_p.Q494H	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	700	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTGGGCCCAGGCTGCCTTCC	0.682000														114			25		4.26978e-12	4.90093e-12	1	1	0
SHROOM3	57619	broad.mit.edu	37	4	77661164	77661164	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77661164C>T	uc011cbx.2	+	4	2791	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	SHROOM3_uc011cbz.1_Missense_Mutation_p.A437V|SHROOM3_uc003hkf.1_Missense_Mutation_p.A488V|SHROOM3_uc003hkg.3_Missense_Mutation_p.A391V	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	613					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCTGGCAAGCGGGTGAAGAC	0.562000														304			54		0	0	1	0	0
ZNF621	285268	broad.mit.edu	37	3	40571782	40571782	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40571782C>T	uc003ckm.2	+	3	450	c.234C>T	c.(232-234)acC>acT	p.T78T	ZNF621_uc003ckn.2_Silent_p.T78T|ZNF621_uc003cko.2_Silent_p.T43T|ZNF621_uc011aze.1_Silent_p.T70T	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CCTGGGACACCGAGATTCTGA	0.488000														111			20		0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17052328	17052328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17052328G>A	uc011awc.2	+	2	1562	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	PLCL2_uc010het.1_Intron|PLCL2_uc011awd.2_Missense_Mutation_p.R371H	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	497	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATAGTTTTCCGCAGTGTCATT	0.398000														98			20		0	0	1	0	0
C5orf49	134121	broad.mit.edu	37	5	7832130	7832130	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7832130G>T	uc003jea.4	-	2	407	c.277C>A	c.(277-279)Ccg>Acg	p.P93T		NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN	Homo sapiens chromosome 5 open reading frame 49 (C5orf49), mRNA.	93										large_intestine(3)|lung(5)|skin(1)	9						ACTCCAACCGGCCTCTCCTGT	0.567000														287			51		1.83081e-24	2.27564e-24	1	1	0
FICD	11153	broad.mit.edu	37	12	108913102	108913102	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108913102C>T	uc001tmx.1	+	2	1373	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	409	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	p.G409G(2)		NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCAACGAGGGCGACGTGAGGC	0.582000														136			25		0	0	1	0	0
HABP2	3026	broad.mit.edu	37	10	115345621	115345621	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115345621A>C	uc001lai.4	+	11	1545	c.1442A>C	c.(1441-1443)cAa>cCa	p.Q481P	HABP2_uc021pyr.1_Missense_Mutation_p.Q455P	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	481	Peptidase S1.	Cleavage (By similarity).			cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AACTCCCGCCAACTCTATGAC	0.512000														94			27		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228565678	228565678	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228565678C>A	uc009xez.1	+	102	23594	c.23550C>A	c.(23548-23550)atC>atA	p.I7850I	OBSCN_uc001hsr.1_Silent_p.I2479I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7850	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGACAGACATCTGGGCCATCG	0.647000														113			8		0.00307968	0.00313564	1	1	0
FAM219A	203259	broad.mit.edu	37	9	34402709	34402709	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34402709C>T	uc011lok.2	-	2	564	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	FAM219A_uc003zuj.3_Missense_Mutation_p.R69Q|FAM219A_uc011lol.2_Missense_Mutation_p.R75Q|FAM219A_uc003zul.3_Missense_Mutation_p.R58Q|FAM219A_uc022bgc.1_Missense_Mutation_p.R86Q|FAM219A_uc022bgd.1_Missense_Mutation_p.R69Q|FAM219A_uc003zuk.3_Missense_Mutation_p.R58Q	NM_001184940	NP_001171869	Q8IW50	CI025_HUMAN	Homo sapiens chromosome 9 open reading frame 25 (C9orf25), transcript variant 1, mRNA.	86								p.R69Q(1)									CTACCTTGTTCGGGCCATGAC	0.622000														100			17		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578270	10578270	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10578270C>T	uc002moj.2	+	14	2742	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	PDE4A_uc021uow.1_Silent_p.G856G|PDE4A_uc002mok.2_Silent_p.G852G|PDE4A_uc002mol.2_Silent_p.G817G|PDE4A_uc002mom.2_Silent_p.G639G|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	878					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CTCCTGGTGGCGGGGGGTCAG	0.662000														181			40		0	0	1	0	0
FAM222B	55731	broad.mit.edu	37	17	27086440	27086440	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27086440C>T	uc002hct.1	-	2	804	c.537G>A	c.(535-537)ccG>ccA	p.P179P	FAM222B_uc010wax.1_Silent_p.P179P|FAM222B_uc010way.1_Silent_p.P179P|FAM222B_uc002hcw.3_Silent_p.P51P	NM_018182	NP_060652	Q8WU58	CQ063_HUMAN	Homo sapiens chromosome 17 open reading frame 63 (C17orf63), transcript variant 2, mRNA.	179	Gln-rich.																CCTGGGGTGGCGGGATACCCT	0.711000														33			5		0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49575299	49575299	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49575299C>T	uc002pmg.3	-	0	900	c.544G>A	c.(544-546)Gca>Aca	p.A182T		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	182						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGGCCGGCTGCGGCTGCAGCA	0.701000														55			12		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70644973	70644973	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644973A>C	uc001jos.2	+	2	1508	c.1421A>C	c.(1420-1422)aAa>aCa	p.K474T	STOX1_uc001joq.3_Missense_Mutation_p.K364T|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.K364T	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	474						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GTAGGTCAGAAACCACTTGGT	0.453000														129			18		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717676	142717676	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142717676T>C	uc022cfm.1	-	0	1249	c.1249A>G	c.(1249-1251)Aag>Gag	p.K417E	SLITRK4_uc022cfl.1_Missense_Mutation_p.K417E|SLITRK4_uc004fbx.3_Missense_Mutation_p.K417E|SLITRK4_uc004fby.3_Missense_Mutation_p.K417E	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	417						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACGTCTCCCTTAATCACTGTA	0.383000														141			35		0	0	1	0	0
TEX33	339669	broad.mit.edu	37	22	37387247	37387247	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37387247G>A	uc003aqf.3	-	5	962	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEX33_uc003aqe.3_Silent_p.N187N	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	272																	TGGATTTGCTGTTTTCTCCAT	0.463000														114			24		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19901641	19901641	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901641G>T	uc010rdm.2	+	4	1099	c.738G>T	c.(736-738)caG>caT	p.Q246H	NAV2_uc001mpp.3_Missense_Mutation_p.Q182H|NAV2_uc001mpr.4_Missense_Mutation_p.Q246H|NAV2_uc021qew.1_Missense_Mutation_p.Q246H	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	246	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CGCCACATCAGCAGTCAAAAG	0.622000														61			23		3.7963e-18	4.57459e-18	1	1	0
LSS	4047	broad.mit.edu	37	21	47639448	47639448	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47639448G>T	uc002zij.3	-	5	668	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	LSS_uc002zil.2_Missense_Mutation_p.L197M|LSS_uc011afv.1_Missense_Mutation_p.L186M|LSS_uc002zik.2_Missense_Mutation_p.L117M	NM_001001438	NP_002331	P48449	ERG7_HUMAN	Homo sapiens lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase) (LSS), transcript variant 2, mRNA.	197					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGGACAGCCAGCCAGAACTTC	0.567000														69			8		5.18039e-06	5.47662e-06	1	1	0
RPL4	6124	broad.mit.edu	37	15	66791951	66791951	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66791951C>T	uc002apv.3	-	9	1143	c.1078G>A	c.(1078-1080)Gca>Aca	p.A360T	SNAPC5_uc002apu.1_5'Flank|RPL4_uc002apx.3_Missense_Mutation_p.A266T	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	360					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAGTGCCGCTGCTGCA	0.478000														111			8		0	0	1	0	0
EPHX1	2052	broad.mit.edu	37	1	226027621	226027621	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226027621C>A	uc001hpk.3	+	5	894	c.814C>A	c.(814-816)Ctt>Att	p.L272I	EPHX1_uc001hpl.3_Missense_Mutation_p.L272I	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	272					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CGGGAGGTTTCTTGGCCTCAC	0.547000														306			26		2.27525e-19	2.76268e-19	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11845625	11845625	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11845625G>A	uc002gne.3	+	66	12734	c.12666G>A	c.(12664-12666)aaG>aaA	p.K4222K	DNAH9_uc010coo.3_Silent_p.K3440K|DNAH9_uc002gnf.3_Silent_p.K534K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4222					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCAGGTCAAGGCACTTCTGG	0.498000														229			47		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43614381	43614381	+	Missense_Mutation	SNP	G	A	A	rs150769460	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43614381G>A	uc003bdt.2	-	14	1898	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	591					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	p.G590D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AACTGCTGCCGGCCGATGGAC	0.652000														340			62		0	0	1	0	0
CHMP2A	27243	broad.mit.edu	37	19	59063087	59063087	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59063087C>T	uc002qti.3	-	4	1024	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CHMP2A_uc002qtj.3_Missense_Mutation_p.A200T|CHMP2A_uc002qtk.3_Missense_Mutation_p.A200T	NM_198426	NP_940818	O43633	CHM2A_HUMAN	Homo sapiens charged multivesicular body protein 2A (CHMP2A), transcript variant 2, mRNA.	200	Interaction with VPS4B.				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein domain specific binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	7		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGCTGCGGCCTCTGCTTTT	0.612000														206			12		0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49883338	49883338	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49883338G>T	uc001rud.2	+	4	1185	c.196G>T	c.(196-198)Gta>Tta	p.V66L	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.V66L|SPATS2_uc001ruf.2_Missense_Mutation_p.V66L	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	66						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						GGACAAAACAGTACAAGCATT	0.323000														53			5		8.12818e-05	8.44191e-05	1	1	0
abParts	0	broad.mit.edu	37	14	106452767	106452767	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106452767G>A	uc021ser.1	-	2607		c.45193C>T								Parts of antibodies, mostly variable regions.																		TGGTGACCCTGCCCTGAAACT	0.557000														387			22		0	0	1	0	0
MRPL37	51253	broad.mit.edu	37	1	54670848	54670848	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54670848G>A	uc001cxa.4	+	1	581	c.504G>A	c.(502-504)gaG>gaA	p.E168E	MRPL37_uc009vzp.3_Intron	NM_016491	NP_057575	Q9BZE1	RM37_HUMAN	Homo sapiens mitochondrial ribosomal protein L37 (MRPL37), nuclear gene encoding mitochondrial protein, mRNA.	168					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						AGACCACTGAGGAAATCCCCA	0.473000														96			26		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55992598	55992598	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55992598C>T	uc021vbv.1	+	0	26	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ZNF628_uc002qld.2_Missense_Mutation_p.A9V	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	9						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCGGACATGGCGCCGGCCTCT	0.692000														21			6		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45293758	45293758	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45293758G>T	uc010olf.2	-	13	1827	c.1815C>A	c.(1813-1815)caC>caA	p.H605Q	PTCH2_uc021omv.1_Missense_Mutation_p.H605Q|PTCH2_uc010olg.2_Missense_Mutation_p.H303Q	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	605					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGGCTTCACAGTGGGTAAAGG	0.622000									Basal Cell Nevus syndrome					221			29		1.5548e-18	1.87917e-18	1	1	0
OR7E24	26648	broad.mit.edu	37	19	9362432	9362432	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362432A>C	uc002mlb.1	+	0	713	c.713A>C	c.(712-714)aAa>aCa	p.K238T		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCTTACTATAAAATTGTTTCC	0.423000														30			3		0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103970160	103970160	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103970160C>A	uc003hwx.4	-	5	1475	c.603G>T	c.(601-603)aaG>aaT	p.K201N	SLC9B2_uc010iln.2_Missense_Mutation_p.K53N|SLC9B2_uc003hwy.3_Missense_Mutation_p.K201N|SLC9B2_uc011cew.2_Missense_Mutation_p.K144N|SLC9B2_uc011cex.1_Missense_Mutation_p.K144N|SLC9B2_uc011cey.2_Missense_Mutation_p.K144N	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	201					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										CACAAACGCCCTTTAACTTCT	0.448000														61			4		0.014758	0.0149061	1	1	0
SATB2	23314	broad.mit.edu	37	2	200137187	200137187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137187G>A	uc002uuy.2	-	10	2766	c.1949C>T	c.(1948-1950)gCt>gTt	p.A650V	SATB2_uc010fsq.2_Missense_Mutation_p.A532V|SATB2_uc002uva.2_Missense_Mutation_p.A650V|SATB2_uc002uuz.2_Missense_Mutation_p.A650V	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	650						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCCAGCTGAGCCGAAAGAGT	0.542000														183			39		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90020790	90020790	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90020790T>G	uc003kju.3	+	45	9986	c.9890T>G	c.(9889-9891)aTt>aGt	p.I3297S	GPR98_uc003kjt.3_Missense_Mutation_p.I1003S|GPR98_uc003kjv.3_Missense_Mutation_p.I897S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3297					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGCAGGGGATTTTTATTCCA	0.284000														44			9		0	0	1	0	0
C9orf114	51490	broad.mit.edu	37	9	131591055	131591055	+	Missense_Mutation	SNP	C	T	T	rs138669669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131591055C>T	uc004bwd.3	-	2	208	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	56										kidney(2)|large_intestine(4)|ovary(1)	7						CTCTTCCAGGCGCTTTGCCTG	0.562000														311			51		0	0	1	0	0
ZC3H15	55854	broad.mit.edu	37	2	187370212	187370212	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187370212C>T	uc002upo.3	+	6	977	c.752C>T	c.(751-753)aCt>aTt	p.T251I	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	251	Required for interaction with DRG1 (By similarity).					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			ACCAAAATCACTCTAGAATCT	0.368000														64			11		0	0	1	0	0
ZNF613	79898	broad.mit.edu	37	19	52448557	52448557	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52448557A>G	uc002pxz.2	+	5	1885	c.1421A>G	c.(1420-1422)cAc>cGc	p.H474R	ZNF613_uc002pya.2_Missense_Mutation_p.H438R	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCATTAACCACCAGAGAATT	0.418000														95			19		0	0	1	0	0
MRPL10	124995	broad.mit.edu	37	17	45904115	45904115	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45904115G>A	uc002ily.3	-	4	548	c.450C>T	c.(448-450)taC>taT	p.Y150Y	MRPL10_uc002ilz.3_Silent_p.Y140Y|MRPL10_uc010wky.2_Silent_p.Y101Y	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	140					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGATTTTGGTACTTGGAAT	0.537000														139			24		0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142408575	142408575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142408575C>T	uc010huv.3	+	9	1256	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V	PLS1_uc003euz.3_Missense_Mutation_p.A366V|PLS1_uc003eva.3_Missense_Mutation_p.A366V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	366	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTTAATTTAGCTTTTGTAGCT	0.408000														105			25		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170038097	170038097	+	Missense_Mutation	SNP	C	T	T	rs137983840	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170038097C>T	uc002ues.3	-	51	10243	c.10030G>A	c.(10030-10032)Gca>Aca	p.A3344T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3344					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R3343C(2)|p.R3343R(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAATGTATGCGCGGTGACCC	0.483000														81			23		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101631905	101631905	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101631905C>T	uc003knm.3	-	0	349	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	21					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGACAAGCGGCGCAGGATGTC	0.572000														125			34		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128927887	128927887	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128927887G>T	uc002tps.3	+	26	3125	c.2947G>T	c.(2947-2949)Ggg>Tgg	p.G983W	UGGT1_uc010fme.1_Missense_Mutation_p.G858W|UGGT1_uc002tpr.3_Missense_Mutation_p.G959W	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	983					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding	p.G983G(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GCCGAAGGAAGGGGAGACATA	0.443000														84			20		1.87028e-06	1.99088e-06	1	1	0
SRP68	6730	broad.mit.edu	37	17	74056448	74056448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74056448G>A	uc002jqk.1	-	6	813	c.778C>T	c.(778-780)Ctc>Ttc	p.L260F	SRP68_uc010wsu.1_Missense_Mutation_p.L159F|SRP68_uc002jql.1_Missense_Mutation_p.L222F	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	260					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ATCTGCATGAGTTCATTGATG	0.418000														76			6		0	0	1	0	0
SETD4	54093	broad.mit.edu	37	21	37420647	37420647	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37420647C>T	uc002yuw.2	-	3	1628	c.255G>A	c.(253-255)acG>acA	p.T85T	SETD4_uc021wiy.1_Silent_p.T85T|SETD4_uc002yuu.3_Intron|SETD4_uc002yux.2_Silent_p.T61T|SETD4_uc002yuz.3_Silent_p.T61T|SETD4_uc002yuy.3_Silent_p.T85T|SETD4_uc002yva.3_Silent_p.T61T	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN	Homo sapiens SET domain containing 4 (SETD4), transcript variant 1, mRNA.	85	SET.									autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TCACTGTGTCCGTGGTGAGCA	0.478000														369			36		0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227172643	227172643	+	Splice_Site	SNP	G	A	A	rs113227759		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227172643G>A	uc001hqm.1	+	18	4991	c.1572_splice	c.e18+1	p.Q524_splice	ADCK3_uc001hqn.1_Splice_Site_p.Q524_splice|ADCK3_uc009xeq.1_Splice_Site_p.Q472_splice|ADCK3_uc010pvq.1_Splice_Site_p.Q245_splice|ADCK3_uc010pvr.1_Splice_Site_p.Q198_splice|ADCK3_uc001hqo.1_Splice_Site_p.Q245_splice|ADCK3_uc009xer.1_Splice_Site_p.Q40_splice	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	524					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CTACATTCAGGTAACTGGAGA	0.567000														72			17		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55994231	55994231	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994231C>T	uc021vbv.1	+	0	1659	c.1659C>T	c.(1657-1659)cgC>cgT	p.R553R	ZNF628_uc002qld.2_Silent_p.R553R|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	553						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GTCGCCACCGCCACGTGCACA	0.701000														102			26		0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18532153	18532153	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18532153G>T	uc002dfe.3	-	18	2279	c.2207C>A	c.(2206-2208)cCt>cAt	p.P736H	NOMO2_uc002dff.3_Missense_Mutation_p.P736H|NOMO2_uc010bvx.3_Missense_Mutation_p.P569H|Mir_548_uc021teb.1_5'Flank	NM_001004060	NP_001004060	Q5JPE7	NOMO2_HUMAN	Homo sapiens NODAL modulator 2 (NOMO2), transcript variant 1, mRNA.	736						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding	p.K735N(1)		endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						CTGCACGGGAGGCTTGGTCAT	0.557000														428			60		5.02462e-34	6.35221e-34	1	1	0
DHDDS	79947	broad.mit.edu	37	1	26769270	26769270	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26769270G>A	uc001bmk.3	+	3	379	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DHDDS_uc001bml.3_Missense_Mutation_p.A77T|DHDDS_uc001bmn.3_Missense_Mutation_p.A77T|DHDDS_uc010ofd.2_Missense_Mutation_p.A77T|DHDDS_uc001bmm.3_5'UTR	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	77							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		GACAGTCTACGCATTCAGCAT	0.522000														158			42		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561477	147561477	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561477C>T	uc003ikv.3	+	1	995	c.747C>T	c.(745-747)agC>agT	p.S249S		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	249					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTGCATGAGCGACGTGGACG	0.697000														61			14		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160019849	160019849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160019849G>A	uc002uag.3	+	7	1012	c.738G>A	c.(736-738)tgG>tgA	p.W246*	TANC1_uc010fol.1_Nonsense_Mutation_p.W140*|TANC1_uc010zcm.2_Nonsense_Mutation_p.W245*|TANC1_uc010fom.1_Intron	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	246						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GTTTGGAATGGAATAAAGATG	0.488000														104			48		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79403572	79403572	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79403572C>T	uc003hlb.2	+	57	9075	c.8635C>T	c.(8635-8637)Cag>Tag	p.Q2879*		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2874	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGATGACACTCAGTATCCGGT	0.458000														239			63		0	0	1	0	0
WDR5B	54554	broad.mit.edu	37	3	122134224	122134224	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122134224G>T	uc003efa.1	-	0	659	c.152C>A	c.(151-153)cCt>cAt	p.P51H		NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN	Homo sapiens WD repeat domain 5B (WDR5B), mRNA.	51										kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		TTCTCCATTAGGACTAAACTT	0.413000														267			59		8.52622e-23	1.0525e-22	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55659283	55659283	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55659283A>C	uc010rip.2	+	7	1627	c.1535_splice	c.e7+1		TRIM51_uc010riq.2_Splice_Site	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.							intracellular	zinc ion binding										TGAAAACATTAAAACCATGTG	0.244000														15			5		0	0	1	0	0
VSNL1	7447	broad.mit.edu	37	2	17773500	17773500	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17773500G>A	uc002rcm.3	+	1	543	c.159G>A	c.(157-159)gtG>gtA	p.V53V		NM_003385	NP_003376	P62760	VISL1_HUMAN	Homo sapiens visinin-like 1 (VSNL1), mRNA.	53	EF-hand 1.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCTCTATGTGAAGGTAAGTT	0.398000														198			13		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39450468	39450468	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39450468C>T	uc001uwv.3	+	19	8802	c.8493C>T	c.(8491-8493)acC>acT	p.T2831T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2831					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCCAGTCACCTGCAACCCCA	0.483000														106			23		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69323949	69323949	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69323949C>A	uc002ars.2	+	3	458	c.417C>A	c.(415-417)ggC>ggA	p.G139G	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.G93G|NOX5_uc002arp.2_Silent_p.G121G|NOX5_uc010bid.2_Silent_p.G104G|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Silent_p.G111G|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	139	EF-hand 3; atypical; contains an insert of 28 residues.|N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCAGTGGCTCCATTGACC	0.662000														80			15		1.05317e-09	1.17384e-09	1	1	0
ZXDC	79364	broad.mit.edu	37	3	126185060	126185060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126185060C>T	uc003eiv.3	-	4	1433	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Missense_Mutation_p.R460K	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	460					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		GGTGAAGAGTCTGTTGCAGGT	0.577000														145			9		0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11066877	11066877	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11066877C>T	uc021tcy.1	+	6	917	c.687C>T	c.(685-687)agC>agT	p.S229S	CLEC16A_uc002dan.4_Silent_p.S227S|CLEC16A_uc002dao.3_Silent_p.S227S	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	229										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCATTGGGAGCCATGTGATCG	0.488000														21			5		0	0	1	0	0
UBLCP1	134510	broad.mit.edu	37	5	158711927	158711927	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158711927G>T	uc003lxq.2	+	10	1271	c.945G>T	c.(943-945)aaG>aaT	p.K315N		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	315						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCTCAAAGAAGCAAGGACAGT	0.338000														59			15		6.72482e-11	7.60803e-11	1	1	0
SIGLEC5	8778	broad.mit.edu	37	19	52131089	52131089	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52131089T>C	uc002pxe.3	-	4	1134	c.995A>G	c.(994-996)tAc>tGc	p.Y332C		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	332					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACACTCACAGTAAACTGAGAG	0.562000														90			25		0	0	1	0	0
C22orf28	51493	broad.mit.edu	37	22	32808119	32808119	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32808119G>A	uc003amm.2	-	0	156	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	C22orf28_uc011ama.1_Non-coding_Transcript	NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	9					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						AAGAACTGCAGCTCATCATTA	0.537000														269			63		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119978917	119978917	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119978917A>G	uc010inb.3	+	4	3810	c.3614A>G	c.(3613-3615)aAt>aGt	p.N1205S	SYNPO2_uc011cgh.2_3'UTR|SYNPO2_uc010inc.3_Missense_Mutation_p.N1075S	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	0						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACAGCCAATAATAATATGTCC	0.433000														154			39		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229727	39229727	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229727G>A	uc003cjk.2	-	1	1439	c.1210C>T	c.(1210-1212)Cga>Tga	p.R404*	XIRP1_uc003cji.3_Nonsense_Mutation_p.R404*|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Nonsense_Mutation_p.R404*	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	404							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGATCCACTCGCTGTAGGTGA	0.582000														430			17		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991499	47991499	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47991499C>T	uc002xur.1	-	1	764	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	KCNB1_uc002xus.1_Missense_Mutation_p.V200I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	200					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTGGAGAGGACGATGAACATG	0.522000														72			17		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49147789	49147789	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49147789C>T	uc003cwd.2	-	24	3876	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	USP19_uc003cwa.3_Missense_Mutation_p.R994H|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.R1289H|USP19_uc011bcg.2_Missense_Mutation_p.R1277H|USP19_uc003cwc.2_Missense_Mutation_p.R944H|USP19_uc011bch.2_Missense_Mutation_p.R1287H	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	1186					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCAAACAAGCGCCAGCCTAC	0.577000														125			33		0	0	1	0	0
FCRLB	127943	broad.mit.edu	37	1	161695827	161695827	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161695827C>T	uc001gbh.3	+	5	758	c.524C>T	c.(523-525)cCg>cTg	p.P175L	FCRLB_uc009wus.3_Missense_Mutation_p.P175L|FCRLB_uc001gbi.3_Missense_Mutation_p.P175L|FCRLB_uc001gbj.3_Missense_Mutation_p.P175L|FCRLB_uc001gbk.3_Missense_Mutation_p.P175L|FCRLB_uc001gbl.3_Missense_Mutation_p.P168L|FCRLB_uc001gbm.3_Missense_Mutation_p.P168L|FCRLB_uc001gbn.4_5'UTR	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	175	Ig-like C2-type 2.					endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ATGCGCATCCCGGTGGAGAGC	0.637000											OREG0013944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			23		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2812144	2812144	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2812144C>T	uc002crk.3	+	10	2164	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	SRRM2_uc002crj.1_Nonsense_Mutation_p.R443*|SRRM2_uc002crl.1_Nonsense_Mutation_p.R539*|SRRM2_uc010bsu.1_Nonsense_Mutation_p.R443*	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	539	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCTCCTCAGCGACCAGGCTG	0.607000														122			16		0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70806004	70806004	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70806004A>G	uc003kbp.1	+	16	3348	c.3085A>G	c.(3085-3087)Att>Gtt	p.I1029V	BDP1_uc003kbn.1_Missense_Mutation_p.I1029V|BDP1_uc003kbo.3_Missense_Mutation_p.I1029V	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1029	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACCAGAGGTGATTGATGCTAC	0.463000														124			31		0	0	1	0	0
SLC17A8	246213	broad.mit.edu	37	12	100806634	100806634	+	Nonsense_Mutation	SNP	G	T	T	rs144447013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100806634G>T	uc010svi.2	+	9	1586	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	SLC17A8_uc009ztx.3_Nonsense_Mutation_p.G375*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	425					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACTTGCTGTAGGATTTAGTGG	0.453000														175			28		1.39806e-14	1.64448e-14	1	1	0
SDK2	54549	broad.mit.edu	37	17	71354234	71354234	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71354234G>A	uc010dfm.3	-	39	5577	c.5577C>T	c.(5575-5577)atC>atT	p.I1859I	SDK2_uc002jjt.4_Silent_p.I999I|SDK2_uc010dfn.2_Silent_p.I1538I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1859	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCTGGCCTCGATGACGTAGC	0.647000														430			91		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23810940	23810940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23810940C>A	uc001ywh.4	+	0	487	c.11C>A	c.(10-12)cCt>cAt	p.P4H	MKRN3_uc001ywi.3_Missense_Mutation_p.P4H|MKRN3_uc010ayi.1_Missense_Mutation_p.P4H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	4						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ATGGAAGAGCCTGCAGCTCCC	0.647000														41			6		0.00116845	0.00119477	1	1	0
C19orf21	126353	broad.mit.edu	37	19	758345	758345	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:758345C>T	uc002lpo.3	+	1	1482	c.1399C>T	c.(1399-1401)Ccg>Tcg	p.P467S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	467										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGATGTCCCCGAGGCATCT	0.612000														130			36		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157667073	157667073	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157667073G>A	uc001fqz.4	-	5	993	c.701C>T	c.(700-702)aCc>aTc	p.T234I	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Intron|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Missense_Mutation_p.T234I|FCRL3_uc001frc.1_Missense_Mutation_p.T234I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	234	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CAATCCGAGGGTCTGGCTATC	0.582000														184			52		0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90027341	90027341	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90027341T>C	uc002fpn.2	+	6	833	c.700T>C	c.(700-702)Tgt>Cgt	p.C234R	DEF8_uc002fpo.2_Missense_Mutation_p.C173R|DEF8_uc002fpp.2_Missense_Mutation_p.C163R|DEF8_uc021tmv.1_Missense_Mutation_p.C173R|DEF8_uc010vpq.2_Missense_Mutation_p.C113R|DEF8_uc010vpr.2_Missense_Mutation_p.C173R|DEF8_uc002fpq.2_5'Flank	NM_207514	NP_001229746	Q6ZN54	DEFI8_HUMAN	Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.	234					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CACCCTAGGGTGTTATTACCG	0.582000														259			77		0	0	1	0	0
ZNF187	7741	broad.mit.edu	37	6	28244175	28244175	+	Missense_Mutation	SNP	A	G	G	rs34029667		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28244175A>G	uc011dlc.2	+	4	1009	c.739A>G	c.(739-741)Att>Gtt	p.I247V	ZNF187_uc003nku.4_Missense_Mutation_p.I113V|ZNF187_uc003nkw.4_Missense_Mutation_p.I94V|ZNF187_uc011dle.2_Missense_Mutation_p.I94V|ZNF187_uc011dlf.2_Missense_Mutation_p.I39V|ZNF187_uc011dld.2_Missense_Mutation_p.I246V|ZNF187_uc011dlg.2_Missense_Mutation_p.I94V	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	247					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CTTGGACCTGATTGAACATGC	0.463000														92			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598373	179598373	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598373C>T	uc021vsy.1	-	49	12236	c.12011G>A	c.(12010-12012)aGc>aAc	p.S4004N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S665N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4931							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)			AGATGTTTGGCTTCCAGCTTC	0.363000														154			65		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029672	71029672	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:71029672C>A	uc001swc.4	-	1	275	c.230G>T	c.(229-231)gGc>gTc	p.G77V	PTPRB_uc001swa.4_Missense_Mutation_p.G77V|PTPRB_uc001swd.4_Missense_Mutation_p.G76V|PTPRB_uc009zrr.2_Intron|PTPRB_uc001swe.3_Missense_Mutation_p.G77V	NM_001109754	NP_001103224	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 1, mRNA.	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GCGGGAGGGGCCGCGGGAAGA	0.547000														48			11		2.80697e-09	3.10977e-09	1	1	0
CCDC73	493860	broad.mit.edu	37	11	32635356	32635356	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32635356C>A	uc001mtv.3	-	15	2552	c.2508G>T	c.(2506-2508)caG>caT	p.Q836H		NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN	Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA.	836										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					ACAATGTATGCTGTCTTTCAT	0.328000														121			23		2.21704e-12	2.55528e-12	1	1	0
COL11A1	1301	broad.mit.edu	37	1	103496747	103496747	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103496747G>T	uc001dum.3	-	4	1023	c.705C>A	c.(703-705)taC>taA	p.Y235*	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Nonsense_Mutation_p.Y235*|COL11A1_uc001dun.3_Nonsense_Mutation_p.Y235*|COL11A1_uc009weh.3_Nonsense_Mutation_p.Y235*	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	235	Nonhelical 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)		AATGCTCACAGTAGTCATATG	0.453000														52			12		4.3838e-07	4.70703e-07	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60646154	60646154	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60646154C>T	uc021ule.1	+	16	4889	c.4644C>T	c.(4642-4644)gaC>gaT	p.D1548D		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1548					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TTGACAGTGACGATGAGGAGC	0.622000														27			8		0	0	1	0	0
FAM117A	81558	broad.mit.edu	37	17	47841426	47841426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47841426G>A	uc002ipk.3	-	0	93	c.24C>T	c.(22-24)ggC>ggT	p.G8G	FAM117A_uc010wlz.2_Intron	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	8										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						ctccgcctctgccgcccgctg	0.801000														26			5		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178427268	178427268	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178427268C>T	uc001glq.3	+	13	3605	c.2841C>T	c.(2839-2841)aaC>aaT	p.N947N	RASAL2_uc001glr.3_Silent_p.N806N|RASAL2_uc009wxc.3_Silent_p.N320N	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	806					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTTTGGAGAACCTAAGCACTG	0.483000														146			42		0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134696257	134696257	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134696257C>A	uc003lam.1	-	4	728	c.518G>T	c.(517-519)aGc>aTc	p.S173I	H2AFY_uc003lao.1_Missense_Mutation_p.S172I|H2AFY_uc003lan.1_Missense_Mutation_p.S173I|H2AFY_uc011cxz.1_Intron|H2AFY_uc003las.1_Missense_Mutation_p.S173I|H2AFY_uc003lat.1_Missense_Mutation_p.S172I	NM_138610	NP_613258	O75367	H2AY_HUMAN	Homo sapiens H2A histone family, member Y (H2AFY), transcript variant 3, mRNA.	173					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCGGTTGTGCTGTCGGCGCT	0.587000														146			11		2.27111e-07	2.44751e-07	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72286859	72286859	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72286859C>T	uc002atl.4	-	9	2011	c.1538G>A	c.(1537-1539)cGa>cAa	p.R513Q	MYO9A_uc010biq.3_Missense_Mutation_p.R108Q|MYO9A_uc002ato.3_Missense_Mutation_p.R513Q|MYO9A_uc002atn.1_Missense_Mutation_p.R494Q	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	513	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGATTAATTCGAAAAACTAT	0.338000														137			30		0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	163369	163369	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:163369A>G	uc002kkf.1	+	1	294	c.78A>G	c.(76-78)ccA>ccG	p.P26P	USP14_uc002kkg.1_Silent_p.P26P|USP14_uc010wyr.1_Silent_p.P26P	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	26	Ubiquitin-like.				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				ATGAACCTCCAATGGTATTCA	0.373000														63			18		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46448083	46448083	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448083G>A	uc002ldg.3	-	3	1227	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	SMAD7_uc002ldf.3_Missense_Mutation_p.R126W|SMAD7_uc010xde.2_Missense_Mutation_p.R99W|SMAD7_uc021ujr.1_Missense_Mutation_p.R313W	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	314	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATTTTGCTCCGCACCTTCTGC	0.557000														116			22		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50290492	50290492	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50290492G>A	uc003cyq.1	+	3	461	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	GNAI2_uc003cyo.1_Missense_Mutation_p.A98T|GNAI2_uc003cyp.1_Missense_Mutation_p.A98T|GNAI2_uc010hlg.1_Missense_Mutation_p.A33T|GNAI2_uc011bdn.2_Missense_Mutation_p.A77T|GNAI2_uc003cyr.1_Missense_Mutation_p.A33T	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	114					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A114T(4)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		GTCCTGCACCGCCGAGGAGCA	0.637000														349			67		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455562	4455562	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4455562C>T	uc002fxz.4	-	6	825	c.763G>A	c.(763-765)Gcc>Acc	p.A255T	MYBBP1A_uc002fyb.4_Missense_Mutation_p.A255T	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	255	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						ACAGAGGAGGCGGCCATCTTC	0.617000														156			28		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39053104	39053104	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39053104G>A	uc002rrf.3	-	15	2998	c.2899C>T	c.(2899-2901)Cgt>Tgt	p.R967C	DHX57_uc002rrd.4_Missense_Mutation_p.R351C|DHX57_uc002rre.3_Missense_Mutation_p.R400C	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	967	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GATGCAACACGGCCTGCTCGG	0.428000														97			37		0	0	1	0	0
LOC647264	0	broad.mit.edu	37	13	64321008	64321008	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:64321008C>A	uc010thk.1	+	0		c.49C>A								Homo sapiens hypothetical LOC647264, mRNA (cDNA clone MGC:189721 IMAGE:9057045), complete cds.																		ctggttatggctatggctatg	0.527000														66			20		5.03518e-11	5.70985e-11	1	1	0
SPHKAP	80309	broad.mit.edu	37	2	228881439	228881439	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881439G>A	uc002vpq.2	-	6	4178	c.4131C>T	c.(4129-4131)acC>acT	p.T1377T	SPHKAP_uc002vpp.2_Silent_p.T1377T|SPHKAP_uc010zlx.1_Silent_p.T1377T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1377						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)		GTTTACATTCGGTAACAGAGT	0.478000														171			30		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846513	117846513	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846513A>C	uc004bjj.4	-	3	2518	c.2106T>G	c.(2104-2106)atT>atG	p.I702M	TNC_uc010mvf.3_Missense_Mutation_p.I702M|TNC_uc022bmj.1_Missense_Mutation_p.I702M	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	702	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGCTGACAGGAATGCTCTTCT	0.577000														142			19		0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255611	85255611	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85255611C>A	uc001szv.3	-	11	2486	c.1993G>T	c.(1993-1995)Gag>Tag	p.E665*	SLC6A15_uc010sul.2_Nonsense_Mutation_p.E558*	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	665					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TTCACAGGCTCTTTCAGGACC	0.413000														146			33		4.11147e-13	4.78056e-13	1	1	0
XKR9	389668	broad.mit.edu	37	8	71646532	71646532	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646532G>T	uc003xyq.3	+	4	1529	c.995G>T	c.(994-996)gGa>gTa	p.G332V	XKR9_uc010lzd.3_Missense_Mutation_p.G200V|XKR9_uc010lze.3_Missense_Mutation_p.G332V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	332						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTTCTTCTTGGAATTCTTTTT	0.333000														20			7		0.0293803	0.0295844	1	1	0
ADCY5	111	broad.mit.edu	37	3	123008674	123008674	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123008674G>A	uc003egh.2	-	18	3455	c.3455C>T	c.(3454-3456)gCc>gTc	p.A1152V	ADCY5_uc021xdd.1_Missense_Mutation_p.A802V|ADCY5_uc003egg.2_Missense_Mutation_p.A810V	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1152	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGCAAAGTCGGCCAGTGCCTT	0.552000														170			49		0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46962105	46962105	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46962105C>A	uc001jea.3	-	7	1284	c.1131G>T	c.(1129-1131)caG>caT	p.Q377H	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.Q255H|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	377	C2 2.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGCCCAGCTGCTGGCTCTCTG	0.652000														158			12		1.08611e-07	1.17606e-07	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147092868	147092868	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147092868G>C	uc003weu.2	+	9	2182	c.1666G>C	c.(1666-1668)Gac>Cac	p.D556H	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	556	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.I555T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGCGATCATAGACAGGTAAAT	0.413000										HNSCC(39;0.1)				181			27		0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50901842	50901842	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50901842A>C	uc001zyt.4	-	18	2798	c.2516T>G	c.(2515-2517)cTt>cGt	p.L839R	TRPM7_uc010bew.2_Missense_Mutation_p.L839R|TRPM7_uc001zyu.3_Missense_Mutation_p.L397R	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	839					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CGTAATTGGAAGCTTTTTTGA	0.274000														50			7		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62868708	62868708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62868708G>A	uc002yii.3	+	20	3422	c.3058G>A	c.(3058-3060)Gag>Aag	p.E1020K	MYT1_uc002yij.3_Missense_Mutation_p.E679K	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	1020					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GTCCAACTCGGAGATGGAGGC	0.577000														20			3		0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257523	134257523	+	Missense_Mutation	SNP	C	T	T	rs144109297		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134257523C>T	uc001qhq.3	-	2	292	c.31G>A	c.(31-33)Gtc>Atc	p.V11I	B3GAT1_uc001qhr.3_Missense_Mutation_p.V11I|B3GAT1_uc010scv.1_Missense_Mutation_p.V24I	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	11					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding	p.V11I(2)|p.I10I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		ACGATGAGGACGATCGCTAGG	0.627000														131			22		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21134137	21134137	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21134137G>A	uc002ztc.2	+	0	624	c.621G>A	c.(619-621)tcG>tcA	p.S207S	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Silent_p.S179S	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	179	Glycosaminoglycan-binding site.				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	AAGTGCACTCGATTTTGCATT	0.433000														116			29		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142241618	142241618	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142241618C>T	uc003eux.4	-	22	4340	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1406					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.L1405I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TATCAGCATACGCAAGGTAAG	0.363000								Other conserved DNA damage response genes						127			13		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14518786	14518786	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518786G>A	uc010heg.3	+	10	1582	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	SLC6A6_uc003byq.3_Missense_Mutation_p.R428Q|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	428					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.R427C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GGTTATCGTCGGGAAATCTTC	0.517000														140			39		0	0	1	0	0
NOC2L	26155	broad.mit.edu	37	1	892379	892379	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:892379C>T	uc009vjq.3	-	3	440	c.381G>A	c.(379-381)gcG>gcA	p.A127A	NOC2L_uc001aby.4_5'UTR|NOC2L_uc001abz.4_Silent_p.A127A	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	127						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTCCTTCCTCCGCTCCATCCT	0.582000														268			81		0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395608	138395608	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395608G>A	uc004cfv.4	+	3	594	c.520G>A	c.(520-522)Ggc>Agc	p.G174S	BC015688_uc004cfy.3_Intron	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	174					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CTTCAGGGGCGGCATGCTGAC	0.582000														126			23		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134238539	134238539	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134238539G>T	uc001qhp.3	+	10	1078	c.890_splice	c.e10-1	p.E297_splice	GLB1L2_uc009zdg.1_Splice_Site	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	297					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CTCCGGCAGAGGTTTTGAAAA	0.542000														161			13		2.27111e-07	2.44751e-07	1	1	0
ANK2	287	broad.mit.edu	37	4	114161720	114161720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161720C>T	uc003ibe.4	+	7	873	c.773C>T	c.(772-774)gCt>gTt	p.A258V	ANK2_uc003ibd.4_Missense_Mutation_p.A237V|ANK2_uc003ibf.4_Missense_Mutation_p.A258V|ANK2_uc003ibc.2_Missense_Mutation_p.A234V|ANK2_uc011cgb.1_Missense_Mutation_p.A273V	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	258					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.A258T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGGGGAGCTGCTGTGGACTTC	0.398000														106			8		0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198460765	198460765	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460765C>T	uc002uuo.4	-	7	1585	c.1183G>A	c.(1183-1185)Gta>Ata	p.V395I		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	395						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						TGAAGGAATACGATCTGCTTT	0.323000														58			5		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185171911	185171911	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185171911C>A	uc001grg.4	+	10	1763	c.1649C>A	c.(1648-1650)cCt>cAt	p.P550H	SWT1_uc001grh.4_Missense_Mutation_p.P550H	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	550										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CCTTGTATTCCTAAGCAACAG	0.313000														101			30		3.90053e-15	4.60698e-15	1	1	0
FBXO46	23403	broad.mit.edu	37	19	46216211	46216211	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46216211C>T	uc002pcz.3	-	1	666	c.543G>A	c.(541-543)caG>caA	p.Q181Q	FBXO46_uc002pcy.3_Silent_p.Q181Q|FBXO46_uc021uvz.1_Silent_p.Q181Q	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	181							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGCTGCCCGCTGTTCCACCA	0.711000														31			7		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130947959G>T	uc011mas.2	-	4	710	c.545C>A	c.(544-546)cCc>cAc	p.P182H	CIZ1_uc004btr.3_Missense_Mutation_p.P152H|CIZ1_uc004bts.3_Missense_Mutation_p.P128H|CIZ1_uc011maq.2_Missense_Mutation_p.P152H|CIZ1_uc004btu.3_Missense_Mutation_p.P128H|CIZ1_uc004btt.3_Missense_Mutation_p.P152H|CIZ1_uc011mar.2_Missense_Mutation_p.P51H|CIZ1_uc004btw.3_Missense_Mutation_p.P152H|CIZ1_uc004btv.3_Missense_Mutation_p.P152H|CIZ1_uc004btx.2_Missense_Mutation_p.P128H	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	152						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612000														100			20		3.99206e-14	4.68177e-14	1	1	0
SMG6	23293	broad.mit.edu	37	17	2202763	2202763	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202763C>T	uc002fub.1	-	1	1339	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SMG6_uc002fud.2_Silent_p.A397A	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	428	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCAAAGGCGCGGACTCTG	0.547000														213			45		0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86519307	86519307	+	Missense_Mutation	SNP	G	A	A	rs149020963		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86519307G>A	uc021qok.1	+	0	622	c.622G>A	c.(622-624)Gac>Aac	p.D208N	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.D176N|PRSS23_uc001pcb.3_Missense_Mutation_p.D208N	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	208					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity	p.N207N(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGGCCAACGACTCCACTTC	0.517000														70			19		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489462	149489462	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149489462T>C	uc010lpk.3	+	36	5606	c.5606T>C	c.(5605-5607)gTg>gCg	p.V1869A		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1872	EGF-like 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCCTGGTGGACGGTGCC	0.701000														27			11		0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284326	33284326	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33284326T>C	uc003oeb.3	-	1	520	c.368A>G	c.(367-369)gAc>gGc	p.D123G	TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.D123G|ZBTB22_uc021ywm.1_Missense_Mutation_p.D123G	NM_005453	NP_005444	O15209	ZBT22_HUMAN	Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.	123					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTTGACAATGTCAGCAGCAGC	0.582000														301			55		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217285073	217285073	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285073C>T	uc002vgc.4	+	4	1244	c.914C>T	c.(913-915)gCc>gTc	p.A305V	SMARCAL1_uc002vgd.4_Missense_Mutation_p.A305V|SMARCAL1_uc010fvg.3_Missense_Mutation_p.A305V	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	305					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGGAATGGGCCTATGGCAGC	0.557000									Schimke Immuno-Osseous Dysplasia					73			16		0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720670	63720670	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63720670G>T	uc003tsx.3	+	2	380	c.111G>T	c.(109-111)caG>caT	p.Q37H		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATCACGCTCAGCAGAATTTAT	0.383000														132			28		8.58068e-18	1.03204e-17	1	1	0
TFEC	22797	broad.mit.edu	37	7	115582018	115582018	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115582018T>G	uc003vhj.2	-	6	845	c.592A>C	c.(592-594)Aga>Cga	p.R198R	TFEC_uc003vhm.2_Silent_p.R131R|TFEC_uc003vhk.2_Silent_p.R169R|TFEC_uc003vhl.4_Silent_p.R169R|TFEC_uc011kmw.2_Silent_p.R288R	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTCGGGCTCTCTGTTGTTCT	0.418000														150			35		0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603718	603718	+	Silent	SNP	C	T	T	rs143343881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:603718C>T	uc002lpe.3	+	1	860	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	269					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCATTGTGATCGAGGACAACA	0.557000														165			23		0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798970	124798970	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798970C>T	uc021rfy.1	+	4	813	c.307C>T	c.(307-309)Cac>Tac	p.H103Y	FAM101A_uc001ugd.2_Missense_Mutation_p.H103Y|FAM101A_uc001uge.2_Missense_Mutation_p.H103Y	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	184										endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		GACCACCCTGCACTGCAGCCT	0.706000														174			41		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92983071	92983071	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92983071A>C	uc003umo.3	+	25	2711	c.2583A>C	c.(2581-2583)gaA>gaC	p.E861D	CCDC132_uc003ump.3_Missense_Mutation_p.E831D|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E581D	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	861										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTATTGTAGAAGGGTAAGTTT	0.323000														97			26		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1961614	1961614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1961614C>T	uc001aip.2	+	8	1347	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	418						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CATCCGTGCCCGGCTCAGGCC	0.662000														226			21		0	0	1	0	0
FAM69B	138311	broad.mit.edu	37	9	139617866	139617866	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139617866G>A	uc004cik.3	+	4	1030	c.936G>A	c.(934-936)aaG>aaA	p.K312K	FAM69B_uc004cil.3_Silent_p.K225K|SNHG7_uc004cim.2_Intron	NM_152421	NP_689634	Q5VUD6	FA69B_HUMAN	Homo sapiens family with sequence similarity 69, member B (FAM69B), mRNA.	312						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		ACGACTTCAAGATGGCCGACC	0.642000														95			20		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154395412	154395412	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154395412A>G	uc010jih.1	+	0	2153	c.1993A>G	c.(1993-1995)Aag>Gag	p.K665E		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	665	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGACAATGGAAGCAGAAAAA	0.398000														176			32		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570669	20570669	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20570669G>A	uc002dhj.4	-	3	488	c.278C>T	c.(277-279)gCa>gTa	p.A93V	ACSM2B_uc002dhk.4_Missense_Mutation_p.A93V|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93V	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATGTTGGCTGCCTGCTGGCT	0.602000														38			16		0	0	1	0	0
DNAH12	201625	broad.mit.edu	37	3	57493472	57493472	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57493472T>G	uc003dit.2	-	7	976	c.795A>C	c.(793-795)ccA>ccC	p.P265P	DNAH12_uc003diu.2_Silent_p.P265P	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	265	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTATAACCTTTGGATACCATG	0.343000														86			28		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52864412	52864412	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52864412G>A	uc001sal.4	-	5	1128	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	360	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCAGCTCCTCGTACTGCAGCC	0.542000														156			24		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127705025	127705025	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127705025T>C	uc003kuu.3	-	15	2537	c.2098A>G	c.(2098-2100)Act>Gct	p.T700A	FBN2_uc003kuv.2_Missense_Mutation_p.T667A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	700					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCATGTGAGTATCTAAAGGA	0.468000														69			14		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407193	105407193	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105407193G>A	uc010axc.1	-	6	14715	c.14595C>T	c.(14593-14595)ttC>ttT	p.F4865F	AHNAK2_uc021sen.1_Silent_p.F262F|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.F4765F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4865						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGGTTTATAGAATTTAGGAA	0.488000														57			8		0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6534897	6534897	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6534897G>A	uc002mfh.2	+	2	623	c.585G>A	c.(583-585)tcG>tcA	p.S195S		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	195					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCGGAACTCGGCCTTCGGTT	0.692000														45			23		0	0	1	0	0
NEMF	9147	broad.mit.edu	37	14	50255946	50255946	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50255946T>G	uc010anj.1	-	27	2881	c.2813A>C	c.(2812-2814)aAc>aCc	p.N938T	NEMF_uc001wwz.3_Missense_Mutation_p.N138T|NEMF_uc001wxa.3_Missense_Mutation_p.N218T|NEMF_uc001wxc.3_Missense_Mutation_p.N938T|NEMF_uc010tqi.2_Missense_Mutation_p.N917T|NEMF_uc001wxe.2_Missense_Mutation_p.N896T	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	938						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TTTCTTAATGTTGTCAGAGAC	0.428000														223			39		0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71540352	71540352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71540352C>T	uc001xmo.2	+	26	5389	c.4943C>T	c.(4942-4944)cCt>cTt	p.P1648L	PCNX_uc010are.1_Missense_Mutation_p.P1537L|PCNX_uc010arf.1_Missense_Mutation_p.P436L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1648						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCCATATTCCTCACATGCTT	0.443000														180			36		0	0	1	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816688	67816688	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67816688G>T	uc001one.3	+	14	1943	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	TCIRG1_uc001ong.3_Missense_Mutation_p.S389I|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	605					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TCGGCCCCCAGCATCCTCATC	0.642000														257			50		1.22102e-19	1.48475e-19	1	1	0
CARM1	10498	broad.mit.edu	37	19	11019791	11019791	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11019791C>A	uc002mpz.3	+	3	592	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	156					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TTATGGCTACCTGTCCCAGCA	0.597000														123			25		1.1804e-14	1.38988e-14	1	1	0
GALR1	2587	broad.mit.edu	37	18	74962940	74962940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74962940C>A	uc002lms.4	+	0	933	c.436C>A	c.(436-438)Ctc>Atc	p.L146I		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	146					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CTCCTCCTCCCTCAGGGTGTC	0.672000														143			31		5.45727e-16	6.48868e-16	1	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65371060	65371060	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65371060T>C	uc003juk.2	+	23	4273	c.3963_splice	c.e23+2	p.E1321_splice	ERBB2IP_uc011cqx.2_Splice_Site_p.E1328_splice|ERBB2IP_uc003jui.2_Splice_Site_p.E1280_splice|ERBB2IP_uc003jul.2_Splice_Site_p.E1276_splice|ERBB2IP_uc011cqy.2_Splice_Site_p.E1280_splice|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Splice_Site_p.E519_splice|ERBB2IP_uc010iwx.2_Splice_Site_p.E1324_splice	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1321	PDZ.				basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AAACAAGAGGTAAGAATAATC	0.348000														113			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719048	140719048	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719048C>T	uc003ljk.2	+	0	695	c.510C>T	c.(508-510)taC>taT	p.Y170Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.Y170Y	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	170	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGAAGTACGCACTCAACC	0.537000														199			16		0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162394349	162394349	+	Missense_Mutation	SNP	G	A	A	rs137853054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162394349G>A	uc021zhu.1	-	6	951	c.860C>T	c.(859-861)aCg>aTg	p.T287M	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_Missense_Mutation_p.T49M|PARK2_uc010kkd.3_Missense_Mutation_p.T49M|PARK2_uc003qtx.4_Missense_Mutation_p.T240M|PARK2_uc021zhs.1_Missense_Mutation_p.T212M|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.T212M|PARK2_uc003qtz.4_Missense_Mutation_p.T91M|PARK2_uc021zhv.1_Missense_Mutation_p.T161M|PARK2_uc021zhw.1_Missense_Mutation_p.T49M|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.T240M|PARK2_uc010kke.1_Missense_Mutation_p.T240M	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	240	SYT11 binding 2.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.T240M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTCTGTGCACGTAATGCAAGT	0.448000														68			18		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976037	131976037	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976037G>T	uc002tsn.2	+	0	114	c.62G>T	c.(61-63)aGg>aTg	p.R21M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	21							ATP binding										TTTGGTCTCAGGAGCAAGATG	0.552000														308			23		5.60225e-13	6.5042e-13	1	1	0
GBX1	2636	broad.mit.edu	37	7	150846225	150846225	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150846225C>A	uc011kvg.2	-	1	775	c.543G>T	c.(541-543)gaG>gaT	p.E181D		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	181						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACACCTTCCCCTCTGCTGTGA	0.582000														467			108		6.46527e-39	8.21458e-39	1	1	0
PABPC3	5042	broad.mit.edu	37	13	25671992	25671992	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671992G>T	uc001upy.3	+	0	1717	c.1656G>T	c.(1654-1656)aaG>aaT	p.K552N		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	552	PABC.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCTCAAAAGCAAAAGCAAA	0.453000														156			33		3.03874e-20	3.70712e-20	1	1	0
PITRM1	10531	broad.mit.edu	37	10	3205979	3205979	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3205979C>T	uc009xhv.2	-	6	798	c.729G>A	c.(727-729)ccG>ccA	p.P243P	PITRM1_uc001igr.2_Silent_p.P243P|PITRM1_uc001igt.2_Silent_p.P243P|PITRM1_uc010qah.2_Silent_p.P211P|PITRM1_uc001igu.1_Silent_p.P235P|PITRM1_uc010qai.2_Silent_p.P214P|BC039685_uc001igx.1_5'Flank	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	211					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						ATGTAAGCTCCGGGATGCACA	0.483000														137			30		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96412999	96412999	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412999A>G	uc001ten.1	-	6	726	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L	LTA4H_uc010suy.1_Silent_p.L182L|LTA4H_uc010suz.1_Silent_p.L182L|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	220					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GACCACACCAAAGTTCTTGGG	0.348000														82			22		0	0	1	0	0
ZMPSTE24	10269	broad.mit.edu	37	1	40747106	40747106	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40747106C>A	uc001cfg.3	+	6	1072	c.861C>A	c.(859-861)taC>taA	p.Y287*		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	287						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TAGAAGAGTACTCTGTACTAA	0.393000														83			10		0.000673444	0.000690401	1	1	0
SNAP29	9342	broad.mit.edu	37	22	21242053	21242053	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21242053C>T	uc011ahw.2	+	4	813	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	236	t-SNARE coiled-coil homology.				cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CATTCTTGACCGGCTGACAAC	0.468000														128			35		0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67205955	67205955	+	Missense_Mutation	SNP	C	A	A	rs150750630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67205955C>A	uc001oll.2	-	11	1495	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Missense_Mutation_p.E454D|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	454					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCATCACCTCCTCCAGCTTCC	0.677000														133			24		1.96895e-08	2.15575e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179422791	179422791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179422791G>A	uc021vsy.1	-	276	79811	c.79586C>T	c.(79585-79587)gCt>gTt	p.A26529V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A20224V|TTN_uc021vta.1_Missense_Mutation_p.A20157V|TTN_uc021vtb.1_Missense_Mutation_p.A20032V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27456	Fibronectin type-III 93.						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)			CAGGTTCTCAGCAGTAATTTC	0.433000														139			48		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64536602	64536602	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64536602C>T	uc001obb.2	-	8	1232	c.780_splice	c.e8-1	p.R260_splice	SF1_uc010rnm.2_5'UTR|SF1_uc010rnn.2_Splice_Site_p.R234_splice|SF1_uc001oaz.2_Splice_Site_p.R385_splice|SF1_uc001oba.2_Splice_Site_p.R260_splice|SF1_uc001obd.2_Splice_Site_p.R260_splice|SF1_uc001obc.2_Splice_Site_p.R260_splice|SF1_uc001obe.2_Splice_Site_p.R145_splice|SF1_uc010rno.2_Splice_Site_p.R145_splice	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	260					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TCTTAAGATCCTATTAAAGGA	0.458000														144			41		0	0	1	0	0
FOXN4	121643	broad.mit.edu	37	12	109719515	109719515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109719515C>T	uc001toe.4	-	8	1096	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	FOXN4_uc009zvg.3_Missense_Mutation_p.A128T|FOXN4_uc001tof.4_Missense_Mutation_p.A151T	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	331					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			large_intestine(5)|lung(9)|ovary(2)	16						ACTGTGGTGGCGTGAGTCAGC	0.677000														60			10		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178608	65178608	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178608C>T	uc002lke.1	-	1	4492	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	DSEL_uc021ulg.1_Missense_Mutation_p.E1090K	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1080			K -> E (in a colorectal cancer sample; somatic mutation).			integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTTCATACTCGAAAGCATAA	0.363000														76			7		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9968460	9968460	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9968460C>A	uc002mmp.3	-	2	319	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	97						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCATGAGGGTCTCCATGCCGC	0.617000														129			38		9.8876e-21	1.20929e-20	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15296201	15296201	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15296201C>A	uc002nan.3	-	13	2239	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	NOTCH3_uc002nao.1_Missense_Mutation_p.E721D	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	721	EGF-like 18.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCAGCCAGGCTCACACACAC	0.692000														82			8		1.26484e-09	1.4081e-09	1	1	0
SPTLC1	10558	broad.mit.edu	37	9	94812267	94812267	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94812267C>T	uc011ltv.1	-	8	901	c.863G>A	c.(862-864)gGa>gAa	p.G288E	SPTLC1_uc004arl.1_Missense_Mutation_p.G288E			O15269	SPTC1_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), transcript variant 1, mRNA.	288						SPOTS complex|integral to membrane	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TTCAGTGACTCCTCGGCCATG	0.388000														142			29		0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912876	170912876	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170912876G>A	uc003isp.4	-	2	1061	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	MFAP3L_uc003isn.4_Missense_Mutation_p.R192W|MFAP3L_uc021xuj.1_Missense_Mutation_p.R192W	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	295						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAGTCGCTCCGCTTCAGAGAG	0.582000														131			30		0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57345960	57345960	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57345960C>T	uc001smi.4	-	3	979	c.807G>A	c.(805-807)gaG>gaA	p.E269E	RDH16_uc009zpa.3_Silent_p.E124E	NM_003708	NP_003699	O75452	RDH16_HUMAN	Homo sapiens retinol dehydrogenase 16 (all-trans) (RDH16), mRNA.	269					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TCAGCGCATGCTCCATGCAGT	0.512000														89			22		0	0	1	0	0
POLR2B	5431	broad.mit.edu	37	4	57887134	57887134	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57887134G>A	uc003hcl.1	+	16	2436	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	POLR2B_uc011cae.1_Missense_Mutation_p.R791H|POLR2B_uc011caf.1_Missense_Mutation_p.R723H|POLR2B_uc003hcm.1_Missense_Mutation_p.R291H	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	798					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCATGAATCGTTCAGCTGTA	0.353000														102			29		0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982780	36982780	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36982780G>A	uc010jwp.1	+	7	1166	c.995G>A	c.(994-996)cGc>cAc	p.R332H	FGD2_uc003ong.2_Missense_Mutation_p.R54H|FGD2_uc011dtv.1_5'UTR|FGD2_uc003oni.1_Missense_Mutation_p.R138H	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	332	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ATCTCCTTCCGCCGCAACGAC	0.632000														99			21		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636716	44636716	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636716A>C	uc002oyj.1	+	4	2192	c.1949A>C	c.(1948-1950)aAa>aCa	p.K650T	ZNF225_uc010ejf.1_Missense_Mutation_p.K650T	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K650T(2)		NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGTAGAGAAAAACTACTTCAA	0.438000														57			9		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67665742	67665742	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67665742G>T	uc002aqo.2	+	9	1440	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	IQCH_uc002aqn.2_Missense_Mutation_p.R275M|IQCH_uc002aqp.2_Missense_Mutation_p.R200M|IQCH_uc002aqq.2_Missense_Mutation_p.R196M	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	448										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGGACCTCCAGGAGGACTATT	0.428000														83			16		3.99206e-14	4.68177e-14	1	1	0
FAM193B	54540	broad.mit.edu	37	5	176959576	176959576	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176959576G>A	uc003mhu.3	-	4	1232	c.1143C>T	c.(1141-1143)tgC>tgT	p.C381C	FAM193B_uc021yiw.1_5'UTR|FAM193B_uc003mht.3_5'UTR|FAM193B_uc003mhv.3_5'UTR|FAM193B_uc003mhw.3_Non-coding_Transcript	NM_001190946	NP_001177875	Q6IPW0	Q6IPW0_HUMAN	Homo sapiens family with sequence similarity 193, member B (FAM193B), transcript variant 3, mRNA.	57										kidney(1)|large_intestine(3)	4						CATCTGCCTCGCAGGGCTGGG	0.617000														26			3		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49740132	49740132	+	Missense_Mutation	SNP	C	T	T	rs146532174		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49740132C>T	uc003cxh.3	+	19	1782	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	RNF123_uc010hky.1_Missense_Mutation_p.R228C|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	566						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)		CTCTGCCCTGCGCTACTATTG	0.562000														563			66		0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242441007	242441007	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242441007C>T	uc002wbm.3	-	1	418	c.147G>A	c.(145-147)aaG>aaA	p.K49K	STK25_uc002wbl.3_5'Flank|STK25_uc002wbn.3_Silent_p.K49K|STK25_uc002wbo.3_Intron|STK25_uc010zos.2_5'UTR|STK25_uc010zot.2_5'UTR|STK25_uc002wbp.3_Silent_p.K49K|STK25_uc010fzo.3_Intron|STK25_uc010zou.2_5'UTR|STK25_uc010zov.2_5'UTR|STK25_uc010zow.2_Silent_p.K49K	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	49	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GGTCGATGATCTTGATGGCCA	0.567000														155			40		0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88119631	88119631	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88119631G>A	uc003plv.3	+	1	197	c.74G>A	c.(73-75)gGa>gAa	p.G25E	C6orf165_uc003plu.2_Missense_Mutation_p.G25E|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.	25										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)		GCAGCCCATGGAGAGATTGTT	0.333000														78			22		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74407148	74407148	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74407148G>T	uc003php.3	+	1	531	c.100G>T	c.(100-102)Ggg>Tgg	p.G34W	CD109_uc003phq.3_Missense_Mutation_p.G34W|CD109_uc010kba.3_Missense_Mutation_p.G34W|AK124950_uc003pho.1_5'Flank	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	34						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.P33T(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACAGCCCCAGGGATCATCAG	0.507000														150			19		4.63292e-17	5.5492e-17	1	1	0
ZNF574	64763	broad.mit.edu	37	19	42585038	42585038	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42585038C>T	uc002osk.4	+	1	2785	c.2550C>T	c.(2548-2550)caC>caT	p.H850H	ZNF574_uc002osm.4_Silent_p.H760H|ZNF574_uc021uva.1_Silent_p.H760H	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGCGCATCCACACAGGTGAGC	0.647000														440			89		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073361	135073361	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135073361C>T	uc004cbh.2	+	2	998	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	74	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.P74L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		AGGAGAATCCCTACCTATGCA	0.667000														88			23		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064784	49064784	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064784C>T	uc001zwz.3	-	12	1875	c.1682G>A	c.(1681-1683)cGt>cAt	p.R561H	CEP152_uc001zwy.3_Missense_Mutation_p.R561H|CEP152_uc001zxa.2_Missense_Mutation_p.R468H	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	561					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CACCAGATGACGCTTCATTGA	0.398000														138			19		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137308289	137308289	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137308289T>G	uc003vtt.3	-	6	817	c.816A>C	c.(814-816)caA>caC	p.Q272H	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	272					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						AGGAGAACTTTTGCTGGAAGC	0.443000														177			46		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650130	146650130	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650130G>T	uc001epg.1	+	0	701	c.438G>T	c.(436-438)aaG>aaT	p.K146N						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		AAGAATTTAAGAAATTCATTA	0.458000														166			12		0.000978159	0.0010017	1	1	0
C15orf55	256646	broad.mit.edu	37	15	34649395	34649395	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34649395G>A	uc010ucc.2	+	7	3568	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	C15orf55_uc010ucd.2_Silent_p.E1052E|C15orf55_uc001zif.3_Silent_p.E1034E	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	1034						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		CACCAAGGGAGCATCCCCTCA	0.527000			T	"""BRD3, BRD4"""	lethal midline carcinoma									94			11		0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261844	21261844	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21261844G>T	uc010bwp.1	+	1	1000	c.957G>T	c.(955-957)gaG>gaT	p.E319D	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	319										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGATGAAGAGGGAGAGGAAA	0.507000														85			18		1.33834e-09	1.48855e-09	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61513636	61513636	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513636G>A	uc002ydr.2	-	15	3984	c.3672C>T	c.(3670-3672)gaC>gaT	p.D1224D	DIDO1_uc002yds.2_Silent_p.D1224D	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1224					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCGGAACGTCCGCTTCTT	0.532000														272			67		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769443	37769443	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37769443C>T	uc003asq.4	-	2	2918	c.2132G>A	c.(2131-2133)aGc>aAc	p.S711N	ELFN2_uc021wph.1_Missense_Mutation_p.S711N	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	711						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GGCGGGAAAGCTGTGCCGGTG	0.716000														35			6		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183594220	183594220	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183594220C>T	uc003ivd.1	+	5	1249	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	392					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)		TGATATTGGCCGAAGAGCAAT	0.388000														26			4		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169849	36169849	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169849G>A	uc003zzb.4	+	0	461	c.350G>A	c.(349-351)cGa>cAa	p.R117Q		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	117	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.R117L(2)|p.R117Q(2)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CCACGCCTTCGAGTTCACTGT	0.507000														127			8		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55922469	55922469	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55922469C>A	uc003pcs.3	-	29	3092	c.2860G>T	c.(2860-2862)Gga>Tga	p.G954*	COL21A1_uc010jzz.3_Nonsense_Mutation_p.G339*|COL21A1_uc011dxg.2_Nonsense_Mutation_p.G327*|COL21A1_uc011dxh.2_Nonsense_Mutation_p.G305*|COL21A1_uc003pcr.3_Nonsense_Mutation_p.G311*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	954					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TAGTTTGGTCCTTTTCTGAAC	0.473000														34			9		0.00621372	0.00630477	1	1	0
SNRK	54861	broad.mit.edu	37	3	43389079	43389079	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43389079T>G	uc003cms.4	+	6	1660	c.1328T>G	c.(1327-1329)tTc>tGc	p.F443C	SNRK_uc003cmt.4_Missense_Mutation_p.F443C|SNRK_uc010hik.3_Missense_Mutation_p.F443C|SNRK_uc011azr.2_Missense_Mutation_p.F237C	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	443					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		AAGTGTCTGTTCAGGGTGGAA	0.537000														64			19		0	0	1	0	0
FAM123B	139285	broad.mit.edu	37	X	63412815	63412815	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63412815G>T	uc022byb.1	-	0	352	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	FAM123B_uc004dvo.3_Missense_Mutation_p.L118M	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	118					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						GGCAAAGGCAGGGAGAAGCCA	0.557000														104			31		1.30897e-18	1.58338e-18	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761865	92761865	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92761865G>T	uc003umh.1	-	4	4636	c.3420C>A	c.(3418-3420)aaC>aaA	p.N1140K	SAMD9L_uc003umj.1_Missense_Mutation_p.N1140K|SAMD9L_uc003umi.1_Missense_Mutation_p.N1140K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N1140K|SAMD9L_uc003umk.1_Missense_Mutation_p.N1140K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N1140K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N1140K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N1140K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1140								p.N1140N(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCTCCTACAGTTTTTGTTCC	0.383000														190			53		2.37804e-12	2.7407e-12	1	1	0
OSBP2	23762	broad.mit.edu	37	22	31091406	31091406	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31091406C>T	uc003aiy.1	+	0	614	c.510C>T	c.(508-510)ggC>ggT	p.G170G	OSBP2_uc011ala.1_Intron|OSBP2_uc010gwc.1_Intron|OSBP2_uc003aix.1_Silent_p.G170G|OSBP2_uc011alb.1_Silent_p.G170G|OSBP2_uc003aiz.1_Silent_p.G170G	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	170					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CGGGGACTGGCACGACCTCCA	0.612000														148			29		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17850613	17850613	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17850613G>A	uc003ncg.4	-	7	818	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	KIF13A_uc003ncf.3_Missense_Mutation_p.R220C|KIF13A_uc003nch.4_Missense_Mutation_p.R220C|KIF13A_uc003nci.4_Missense_Mutation_p.R220C	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	220	Kinesin-motor.				Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCATGGGAGCGGCTGCTTTCT	0.468000														70			15		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123906201	123906201	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123906201A>C	uc004bkx.1	+	17	2923	c.2892A>C	c.(2890-2892)aaA>aaC	p.K964N	CNTRL_uc004bky.1_Missense_Mutation_p.K568N|CNTRL_uc004bla.1_Missense_Mutation_p.K412N|CNTRL_uc010mvo.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	964					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAGATGCCAAATCTCAGGAGC	0.393000														66			10		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624909	29624909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624909C>T	uc001rix.1	-	15	1682	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	561					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AGGGATGCCACAGACATCTAC	0.478000														42			14		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493870	170493870	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493870T>C	uc002uez.3	+	13	2322	c.2102T>C	c.(2101-2103)tTa>tCa	p.L701S	PPIG_uc010fpx.3_Missense_Mutation_p.L686S|PPIG_uc010fpy.3_Missense_Mutation_p.L694S|PPIG_uc002ufb.3_Missense_Mutation_p.L701S|PPIG_uc002ufd.3_Missense_Mutation_p.L698S	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	701					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAATGAATTAAAGTCCTCC	0.353000														51			10		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224712	20224712	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20224712G>T	uc010cqy.1	+	0		c.226G>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AAAACCGGTAGCGTCAGGAGC	0.637000														111			29		1.77063e-15	2.09702e-15	1	1	0
CIT	11113	broad.mit.edu	37	12	120168356	120168356	+	Missense_Mutation	SNP	C	T	T	rs146605071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120168356C>T	uc001txj.2	-	26	3486	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	CIT_uc001txh.2_Missense_Mutation_p.A636T|CIT_uc001txi.2_Missense_Mutation_p.A1102T	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1102	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGCTGCAGAGCGAGAATCTCA	0.562000														65			17		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20063940	20063940	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20063940G>T	uc001bcn.3	-	12	1431	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	TMCO4_uc001bco.1_Missense_Mutation_p.P397T|TMCO4_uc001bcp.1_Missense_Mutation_p.P357T	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	397						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		AAGGTGACAGGTCGTCGCCCC	0.517000														106			26		5.45024e-15	6.43213e-15	1	1	0
DDX5	1655	broad.mit.edu	37	17	62496398	62496398	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62496398T>G	uc010deh.2	-	12	1531	c.1488A>C	c.(1486-1488)agA>agC	p.R496S	DDX5_uc002jek.2_Missense_Mutation_p.R496S|DDX5_uc002jej.2_Missense_Mutation_p.R391S|DDX5_uc010wqa.1_Missense_Mutation_p.R417S	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	496					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCGCAGAGTATCTGTCCCGAC	0.423000			T	ETV4	prostate									147			48		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207643379	207643379	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207643379A>G	uc001hfw.3	+	5	1276	c.1157A>G	c.(1156-1158)aAg>aGg	p.K386R	CR2_uc001hfv.3_Missense_Mutation_p.K386R|CR2_uc009xch.3_Missense_Mutation_p.K386R|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	386	Sushi 6.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTCACCTTGAAGGGCAGCAAG	0.493000														91			26		0	0	1	0	0
ARHGEF15	22899	broad.mit.edu	37	17	8222373	8222373	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8222373G>T	uc002glc.3	+	12	2237	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H	ARHGEF15_uc002gld.3_Missense_Mutation_p.Q694H|ARHGEF15_uc010vuw.2_Missense_Mutation_p.Q583H	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	694					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCCTGGTCCAGGCCCAGCAGG	0.642000														232			40		1.69901e-12	1.96103e-12	1	1	0
NEFH	4744	broad.mit.edu	37	22	29881809	29881809	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29881809C>T	uc003afo.3	+	2	1252	c.1181C>T	c.(1180-1182)gCt>gTt	p.A394V		NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	394	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCAAGATGGCTCTGGATATA	0.547000														101			20		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94038695	94038695	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94038695T>C	uc003ung.1	+	16	1325	c.854T>C	c.(853-855)gTg>gCg	p.V285A	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	285					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CGTGGTGAAGTGGGTCTTCCA	0.493000										HNSCC(75;0.22)				173			42		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21150489	21150489	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21150489C>T	uc002zsz.4	-	17	2309	c.2048G>A	c.(2047-2049)gGg>gAg	p.G683E		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	683					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCCCTCCAGCCCCAGCTGCAC	0.587000														89			11		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120139738	120139738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120139738C>T	uc001txj.2	-	41	5386	c.5330G>A	c.(5329-5331)aGc>aAc	p.S1777N	CIT_uc001txh.2_Missense_Mutation_p.S1254N|CIT_uc001txi.2_Missense_Mutation_p.S1735N	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1735	CNH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GTGGATACAGCTGCAGGGCTC	0.498000														151			51		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818475	214818475	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214818475G>T	uc001hkm.3	+	12	5736	c.5562G>T	c.(5560-5562)caG>caT	p.Q1854H		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1950					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTGATCACCAGGAGTTACTCC	0.343000														65			12		5.16669e-11	5.85653e-11	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155451439	155451439	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155451439G>A	uc009wqq.3	-	2	1702	c.1222C>T	c.(1222-1224)Cta>Tta	p.L408L	ASH1L_uc001fkt.3_Silent_p.L408L|ASH1L_uc009wqr.1_Silent_p.L408L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	408					DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAACTCATTAGTTTCTTTCCA	0.448000														173			72		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41748838	41748838	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41748838C>A	uc010ehj.3	+	10	1553	c.1363C>A	c.(1363-1365)Cta>Ata	p.L455I	AXL_uc010ehi.1_Missense_Mutation_p.L455I|AXL_uc010ehk.3_Missense_Mutation_p.L446I|TRNA_Pseudo_uc021uux.1_5'Flank	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	455						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTATGTACTGCTAGGAGCAGT	0.552000														179			42		5.44703e-19	6.60141e-19	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1041388	1041388	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1041388C>T	uc002lqw.4	+	1	259	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Silent_p.L10L	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	10					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGATGCTGCTGCTCTGGAA	0.652000														246			51		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5077407	5077407	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5077407G>A	uc010xim.2	+	6	814	c.706G>A	c.(706-708)Gac>Aac	p.D236N	KDM4B_uc010xil.1_Missense_Mutation_p.D236N|KDM4B_uc002mbq.4_Missense_Mutation_p.D236N|KDM4B_uc002mbr.4_5'UTR	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	236	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.C235C(1)		breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCAGGGCTGCGACGCCTTCCT	0.657000														534			107		0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790217	4790217	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4790217T>C	uc010qyl.2	-	0	931	c.931A>G	c.(931-933)Aca>Gca	p.T311A		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	311						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTTCATTTTGTAAGCAGCAGA	0.423000														98			23		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233635	67233635	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233635G>A	uc002esa.3	+	2	370	c.327G>A	c.(325-327)ggG>ggA	p.G109G	ELMO3_uc002esb.3_Silent_p.G109G|ELMO3_uc002esc.3_5'UTR	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	56					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TTGCGGATGGGCACCGGAGAT	0.672000														68			12		0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315942	70315942	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315942G>T	uc002sgf.3	+	0	1358	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	356					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						ATGGGGTGCAGCTAGAACAGT	0.463000														40			13		4.36969e-10	4.89342e-10	1	1	0
ZNF501	115560	broad.mit.edu	37	3	44776675	44776675	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44776675C>A	uc003cnu.1	+	2	1163	c.762C>A	c.(760-762)tcC>tcA	p.S254S	ZNF501_uc021wwq.1_Silent_p.S254S	NM_145044	NP_659481	Q96CX3	ZN501_HUMAN	Homo sapiens zinc finger protein 501 (ZNF501), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		GTGGGAAATCCTTTAGGCACA	0.403000														88			21		2.27731e-05	2.38354e-05	1	1	0
NCOA4	8031	broad.mit.edu	37	10	51584652	51584652	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51584652G>A	uc001jis.4	+	7	954	c.751G>A	c.(751-753)Ggg>Agg	p.G251R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.G267R|NCOA4_uc010qhd.2_Missense_Mutation_p.G267R|NCOA4_uc010qhe.2_Missense_Mutation_p.G151R|NCOA4_uc010qhf.2_Missense_Mutation_p.G85R|NCOA4_uc001jit.3_Missense_Mutation_p.G251R|NCOA4_uc009xoo.3_Missense_Mutation_p.G251R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	251					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	p.G267W(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CAATAATGTCGGGGGAAACCT	0.388000			T	RET	papillary thyroid									140			31		0	0	1	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941591	6941591	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6941591T>G	uc002geh.3	+	2	772	c.464T>G	c.(463-465)tTt>tGt	p.F155C		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	155						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						TCCTTCACATTTGCCCCCTTT	0.642000														177			31		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342916	48342916	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342916G>A	uc002phq.4	+	3	796	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	198					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P197P(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)		CTACGCCCCGGCCTCCGCTTT	0.672000														247			68		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100367375	100367375	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100367375C>A	uc001ygr.3	+	10	1134	c.1065_splice	c.e10+1	p.S355_splice	EML1_uc010avt.1_Splice_Site_p.S323_splice|EML1_uc010tww.2_Splice_Site_p.S324_splice|EML1_uc001ygq.3_Splice_Site_p.S355_splice|EML1_uc001ygs.3_Splice_Site_p.S336_splice	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	336						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTCTCAAAATCTGTAAGTATG	0.458000														104			14		1.49906e-05	1.573e-05	1	1	0
MCOLN2	255231	broad.mit.edu	37	1	85412808	85412808	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85412808A>C	uc001dkm.3	-	6	996	c.755T>G	c.(754-756)tTt>tGt	p.F252C	MCOLN2_uc001dkn.3_Intron	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	252						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		TTTATTGTCAAAGATAATCTG	0.318000														79			18		0	0	1	0	0
FAM166A	401565	broad.mit.edu	37	9	140138683	140138683	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140138683G>T	uc004cmi.1	-	5	860	c.805C>A	c.(805-807)Ccc>Acc	p.P269T		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	Homo sapiens family with sequence similarity 166, member A (FAM166A), mRNA.	269										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						TGGTTGCTGGGCCAGTGTGTT	0.607000														123			7		0.0293803	0.0295844	1	1	0
PHF15	23338	broad.mit.edu	37	5	133896555	133896555	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133896555G>A	uc003kzk.2	+	5	678	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PHF15_uc011cxt.1_Missense_Mutation_p.E198K|PHF15_uc003kzl.2_Missense_Mutation_p.E198K|PHF15_uc003kzm.2_Missense_Mutation_p.E198K|PHF15_uc003kzn.2_Missense_Mutation_p.E198K|PHF15_uc003kzo.1_Missense_Mutation_p.E198K	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	198					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGAGTACGACGAGGATGTTGT	0.592000														122			22		0	0	1	0	0
TMEM109	79073	broad.mit.edu	37	11	60689496	60689496	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60689496C>T	uc001nqg.3	+	3	969	c.591C>T	c.(589-591)gcC>gcT	p.A197A	TMEM132A_uc001nqi.3_5'Flank|TMEM132A_uc001nqj.3_5'Flank	NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	197						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						TCCTCTACGCCCTGCTGAGCC	0.677000														166			36		0	0	1	0	0
OR2B6	26212	broad.mit.edu	37	6	27925530	27925530	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27925530C>T	uc011dkx.2	+	0	512	c.512C>T	c.(511-513)cCc>cTc	p.P171L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTCTGTGACCCCTATGTGATA	0.488000														212			28		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65241151	65241151	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65241151C>T	uc001xht.3	-	22	4988	c.4937G>A	c.(4936-4938)cGg>cAg	p.R1646Q	SPTB_uc001xhr.3_Missense_Mutation_p.R1646Q|SPTB_uc001xhs.3_Missense_Mutation_p.R1646Q|SPTB_uc001xhu.3_Missense_Mutation_p.R1646Q|SPTB_uc010aqi.3_Missense_Mutation_p.R307Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1646					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGGGCCCGGCTGGCCAG	0.662000														13			3		0	0	1	0	0
ZNF14	7561	broad.mit.edu	37	19	19822954	19822954	+	Missense_Mutation	SNP	C	T	T	rs3752153	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19822954C>T	uc002nnk.1	-	3	1290	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q		NM_021030	NP_066358	P17017	ZNF14_HUMAN	Homo sapiens zinc finger protein 14 (ZNF14), mRNA.	379			R -> Q (in dbSNP:rs3752153).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTCATGCAATCGAAGAGAAAT	0.373000														95			18		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128494556	128494556	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128494556G>A	uc003vnz.4	+	40	7026	c.6817G>A	c.(6817-6819)Gcc>Acc	p.A2273T	FLNC_uc003voa.4_Missense_Mutation_p.A2240T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2273					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGAGGACAGCGCCTACAGCGT	0.632000														24			10		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20224721	20224721	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20224721G>T	uc010cqy.1	+	0		c.235G>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AGCGTCAGGAGCCAGGAGGAC	0.632000														138			28		8.24728e-16	9.79314e-16	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36049967	36049967	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049967G>A	uc001uvc.3	-	1	891	c.309C>T	c.(307-309)agC>agT	p.S103S	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	103					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TGCGCCCGTCGCTCAACTTCA	0.592000														171			30		0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855532	64855532	+	Silent	SNP	C	T	T	rs143603280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64855532C>T	uc001ocq.1	+	7	1044	c.879C>T	c.(877-879)agC>agT	p.S293S		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	293					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CAGCTGACAGCGATCCCAACC	0.667000														313			65		0	0	1	0	0
C17orf85	55421	broad.mit.edu	37	17	3721599	3721599	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3721599G>T	uc010ckl.1	-	9	1291	c.1268C>A	c.(1267-1269)aCt>aAt	p.T423N	C17orf85_uc002fwr.2_Missense_Mutation_p.T133N|C17orf85_uc002fwq.2_Missense_Mutation_p.T143N	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	423							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGCATACATAGTCATTTTCAT	0.338000														133			29		4.59853e-10	5.14677e-10	1	1	0
TMEM98	26022	broad.mit.edu	37	17	31266550	31266550	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31266550G>A	uc002hhq.3	+	6	927	c.469G>A	c.(469-471)Gca>Aca	p.A157T	TMEM98_uc002hhr.3_Missense_Mutation_p.A157T	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	157						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			ACTCCTGGACGCACGGTGAGA	0.532000														94			24		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36143867	36143867	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36143867G>T	uc001wtj.3	-	21	3546	c.3155C>A	c.(3154-3156)aCt>aAt	p.T1052N	RALGAPA1_uc010amp.3_5'Flank|RALGAPA1_uc001wti.3_Missense_Mutation_p.T1052N|RALGAPA1_uc010tpv.2_Missense_Mutation_p.T1065N|RALGAPA1_uc010tpw.1_Missense_Mutation_p.T1099N	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1052					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCCAGTCAGAGTACCTCCTGC	0.373000														50			8		1.76689e-08	1.93511e-08	1	1	0
ATP2A1	487	broad.mit.edu	37	16	28900144	28900144	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28900144G>A	uc002dro.1	+	8	1149	c.965G>A	c.(964-966)gGt>gAt	p.G322D	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.G322D|ATP2A1_uc002drp.1_Missense_Mutation_p.G197D|ATP2A1_uc010bym.1_Non-coding_Transcript	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	322					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTGGCCCTGGGTACCCGTCGG	0.602000														256			62		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27454442	27454442	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27454442C>T	uc002rji.3	+	15	2556	c.2394C>T	c.(2392-2394)agC>agT	p.S798S	CAD_uc010eyw.3_Silent_p.S735S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	798	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AACCAGTCAGCGATATGGTAA	0.532000														60			11		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186423589	186423589	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423589G>A	uc003ixw.4	-	7	1078	c.954C>T	c.(952-954)ttC>ttT	p.F318F	PDLIM3_uc003ixx.4_Silent_p.F270F|PDLIM3_uc010isi.3_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	318	LIM zinc-binding.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CGGCACACACGAAGCACTCAG	0.532000														203			20		0	0	1	0	0
GEMIN2	8487	broad.mit.edu	37	14	39587259	39587259	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39587259G>A	uc001wuq.3	+	2	334	c.312G>A	c.(310-312)caG>caA	p.Q104Q	GEMIN2_uc001wur.3_Silent_p.Q104Q|GEMIN2_uc001wus.3_Silent_p.Q104Q|GEMIN2_uc010amx.3_Non-coding_Transcript	NM_003616	NP_003607	O14893	GEMI2_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 2 (GEMIN2), transcript variant alpha, mRNA.	104	Poly-Gln.				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding										AATGGCAACAGCAACAAGTGG	0.408000														48			11		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	434085	434085	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:434085T>C	uc003jav.3	+	11	1339	c.1296T>C	c.(1294-1296)gaT>gaC	p.D432D	AHRR_uc003jaw.3_Silent_p.D414D|AHRR_uc010isy.3_Silent_p.D260D|AHRR_uc010isz.3_Silent_p.D410D|AHRR_uc003jax.3_Silent_p.D173D|AHRR_uc003jay.3_Silent_p.D270D|AHRR_uc003jaz.3_Silent_p.D31D	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGTGAGGATGGTGCCAGGC	0.682000														85			18		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909116	153909116	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153909116C>T	uc001fdd.1	-	15	2742	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	781										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCACATAGGCAGGCAGACAC	0.637000														65			25		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472178	47472178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47472178C>T	uc001rpm.3	-	2	1263	c.608G>A	c.(607-609)cGa>cAa	p.R203Q	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R203Q|AMIGO2_uc001rpl.3_Missense_Mutation_p.R203Q|AMIGO2_uc021qxg.1_Missense_Mutation_p.R203Q	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	203					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.R203Q(2)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GGAAGGAATTCGGTTATAAGA	0.413000														84			19		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48905247	48905247	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48905247A>G	uc001zwx.2	-	2	602	c.207T>C	c.(205-207)ccT>ccC	p.P69P		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	69					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTTTCCATCCAGGGCAACAGT	0.383000														114			30		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34500719	34500719	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34500719G>T	uc003zum.3	+	11	1095	c.902_splice	c.e11-1	p.D301_splice		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	301					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTGTTTAAGATTTTAAGTA	0.522000									Kartagener syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			5		0.014758	0.0149061	1	1	0
ATF6	22926	broad.mit.edu	37	1	161821543	161821543	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161821543C>T	uc001gbs.3	+	10	1468	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	ATF6_uc001gbq.2_Silent_p.L451L	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	451					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TGACAAAGCCCTGATGGTGCT	0.368000														192			32		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580223	99580223	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99580223T>G	uc004awp.1	-	5	2363	c.2082A>C	c.(2080-2082)aaA>aaC	p.K694N	ZNF782_uc011lup.1_Missense_Mutation_p.K562N	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTGGGTGGGCTTTCTGATGTT	0.388000														84			24		0	0	1	0	0
SYT7	9066	broad.mit.edu	37	11	61290707	61290707	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61290707C>T	uc001nrv.3	-	7	999	c.947G>A	c.(946-948)cGg>cAg	p.R316Q	SYT7_uc009ynr.3_Missense_Mutation_p.R391Q	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	316	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTTCTCCACCCGCTTGTCCTT	0.562000														153			39		0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798871	84798871	+	Missense_Mutation	SNP	C	A	A	rs145761372	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84798871C>A	uc003pkg.4	+	3	479	c.289C>A	c.(289-291)Cct>Act	p.P97T	MRAP2_uc010kbo.3_Missense_Mutation_p.P11T	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	97					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						CTTTGGAAGACCTCTGGAGCC	0.433000														129			23		0.00047179	0.000485271	1	1	0
MATK	4145	broad.mit.edu	37	19	3784220	3784220	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3784220G>A	uc002lyt.3	-	4	664	c.264C>T	c.(262-264)cgC>cgT	p.R88R	MATK_uc002lyv.3_Silent_p.R89R|MATK_uc002lyu.3_Silent_p.R47R|MATK_uc010dtq.3_Silent_p.R88R	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	88	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCTTGACGCGGTACCAGC	0.692000														170			32		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085080	64085080	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085080G>A	uc003dmf.3	-	7	2768	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	728	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CTCCGCTGGCGCATAAATTGG	0.617000														186			20		0	0	1	0	0
TREML2	79865	broad.mit.edu	37	6	41166116	41166116	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41166116G>T	uc010jxm.1	-	1	286	c.107C>A	c.(106-108)aCt>aAt	p.T36N		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	36	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACAGACAGAGTCTCCCCTTC	0.502000														278			65		2.32099e-22	2.86038e-22	1	1	0
MAMDC4	158056	broad.mit.edu	37	9	139752883	139752883	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139752883C>T	uc004cjs.3	+	21	2756	c.2706C>T	c.(2704-2706)ggC>ggT	p.G902G	MAMDC4_uc011mej.2_Silent_p.G239G	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	981	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTGTGTGGCTGGAGCCACC	0.687000														99			23		0	0	1	0	0
RNF126	55658	broad.mit.edu	37	19	652265	652265	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:652265C>A	uc010drs.3	-	2	278	c.166G>T	c.(166-168)Gct>Tct	p.A56S		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	56							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGGGAGCTGTGGAGGGG	0.687000														10			3		0.004672	0.00474578	1	1	0
LMO7	4008	broad.mit.edu	37	13	76429476	76429476	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76429476G>A	uc021rkq.1	+	28	5077	c.4742G>A	c.(4741-4743)gGt>gAt	p.G1581D	LMO7_uc010thv.2_Missense_Mutation_p.G1299D|LMO7_uc001vjv.3_Intron|LMO7_uc010thw.2_Missense_Mutation_p.G1225D|LMO7_uc001vjx.1_5'Flank	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1633						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAGTCCCTGGGTCTTTGTTAT	0.493000														52			13		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487245	63487245	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487245C>A	uc001nxq.3	+	2	1458	c.1271C>A	c.(1270-1272)tCt>tAt	p.S424Y	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.S312Y|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.S405Y|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	424					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GTACCTGACTCTTTGAATTCC	0.423000														98			20		3.99206e-14	4.68177e-14	1	1	0
HNRNPC	3183	broad.mit.edu	37	14	21702191	21702191	+	Silent	SNP	G	A	A	rs117138992	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21702191G>A	uc001vzy.3	-	2	406	c.162C>T	c.(160-162)ttC>ttT	p.F54F	HNRNPC_uc001vzw.3_Silent_p.F54F|HNRNPC_uc001wad.3_Intron|HNRNPC_uc001vzx.3_Intron|HNRNPC_uc001vzz.3_Silent_p.F54F|HNRNPC_uc001waa.3_Silent_p.F54F|HNRNPC_uc010ail.3_Silent_p.F54F|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_Silent_p.F54F|HNRNPC_uc001wae.3_Silent_p.F54F	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	54	RRM.					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATACTGAACGAAGGCAAAGC	0.443000														170			37		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242192398	242192398	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242192398T>C	uc002waz.3	-	10	1519	c.1346A>G	c.(1345-1347)cAc>cGc	p.H449R	HDLBP_uc002wba.3_Missense_Mutation_p.H449R|HDLBP_uc021vzg.1_Missense_Mutation_p.H416R	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	449	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCAATGAGGTGCCTGTGGAA	0.572000														139			50		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62200677	62200677	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62200677G>A	uc002yfm.2	-	4	1804	c.912C>T	c.(910-912)ggC>ggT	p.G304G	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	304					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCGCTCCACGCCAGGCACCA	0.706000														47			10		0	0	1	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535367	166535367	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166535367C>A	uc002udf.3	+	6	1238	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	CSRNP3_uc002udg.3_Missense_Mutation_p.L288M	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	288					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AATCCCCACGCTGAATGGCTG	0.438000														80			32		1.30897e-18	1.58338e-18	1	1	0
C17orf28	283987	broad.mit.edu	37	17	72949126	72949126	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72949126C>A	uc002jmj.4	-	15	2176	c.2027G>T	c.(2026-2028)gGg>gTg	p.G676V	C17orf28_uc002jmi.3_Missense_Mutation_p.G78V|C17orf28_uc010wrs.2_Missense_Mutation_p.G475V	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	676						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					GCTCCACTGCCCACTGGCTGA	0.687000														36			9		0.0692343	0.0695478	1	1	0
GDPD5	81544	broad.mit.edu	37	11	75153542	75153542	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153542G>T	uc001owo.4	-	12	1570	c.1033C>A	c.(1033-1035)Ctc>Atc	p.L345I	GDPD5_uc001owp.4_Missense_Mutation_p.L345I|GDPD5_uc001own.4_Missense_Mutation_p.L100I|GDPD5_uc009yuc.3_Missense_Mutation_p.L207I|GDPD5_uc009yud.3_Missense_Mutation_p.L226I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	345	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGCTCCAGGAGCTCTGCCAGG	0.632000														93			19		3.32936e-07	3.57961e-07	1	1	0
HPSE2	60495	broad.mit.edu	37	10	100503711	100503711	+	Missense_Mutation	SNP	C	T	T	rs138827531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100503711C>T	uc001kpn.2	-	3	786	c.713G>A	c.(712-714)aGt>aAt	p.S238N	HPSE2_uc009xwc.2_Missense_Mutation_p.S238N|HPSE2_uc001kpo.2_Intron|HPSE2_uc009xwd.2_Intron	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	238					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGCACTAGAACTGTTCCAGGA	0.423000														170			28		0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944327	96944327	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96944327C>A	uc002svu.3	-	37	5578	c.5446G>T	c.(5446-5448)Ggc>Tgc	p.G1816C	SNRNP200_uc002svt.3_Missense_Mutation_p.G426C|SNRNP200_uc010yuj.2_Non-coding_Transcript	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1816	SEC63 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						GCGATCATGCCTAGGTTCAGA	0.582000														211			20		3.51602e-12	4.04451e-12	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101342956	101342956	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342956A>G	uc001pgk.4	-	7	2542	c.2117T>C	c.(2116-2118)gTt>gCt	p.V706A	TRPC6_uc009ywy.3_Missense_Mutation_p.V590A|TRPC6_uc009ywz.1_Missense_Mutation_p.V651A	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	706					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCCATAAAGAACGTAACCAAT	0.338000														99			21		0	0	1	0	0
SDHA	6389	broad.mit.edu	37	5	235284	235284	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:235284G>A	uc011clv.1	+	8	1205	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	SDHA_uc003jao.4_Missense_Mutation_p.V364I|SDHA_uc011clw.2_Missense_Mutation_p.V316I|SDHA_uc003jaq.4_Missense_Mutation_p.V139I|SDHA_uc021xvu.1_Missense_Mutation_p.V139I	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	364					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAAAGATCACGTCTACCTGCA	0.567000									Familial Paragangliomas					123			12		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127765336	127765336	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127765336C>A	uc011ebs.2	-	5	2339	c.2003G>T	c.(2002-2004)aGa>aTa	p.R668I	KIAA0408_uc003qbc.3_Missense_Mutation_p.R668I|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_Missense_Mutation_p.R79I|KIAA0408_uc003qbb.3_Missense_Mutation_p.R551I	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	668							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AGATGGAGATCTGGATGCCCA	0.517000														79			22		2.32416e-17	2.78873e-17	1	1	0
OR2S2	56656	broad.mit.edu	37	9	35957155	35957155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35957155G>A	uc011lpi.2	-	0	997	c.941C>T	c.(940-942)cCa>cTa	p.P314L		NM_019897	NP_063950	Q9NQN1	OR2S1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily S, member 2 (OR2S2), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGCCTTTTGGTCTCAGCAG	0.502000														115			30		0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40122325	40122325	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40122325G>T	uc003guy.4	+	8	2932	c.2594G>T	c.(2593-2595)aGc>aTc	p.S865I	N4BP2_uc010ifq.3_Missense_Mutation_p.S785I|N4BP2_uc010ifr.3_Missense_Mutation_p.S785I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	865						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CCACTCAATAGCTATAAATAT	0.398000														57			8		5.18039e-06	5.47662e-06	1	1	0
SETX	23064	broad.mit.edu	37	9	135203494	135203494	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203494C>T	uc004cbk.3	-	9	3674	c.3491G>A	c.(3490-3492)cGa>cAa	p.R1164Q	SETX_uc004cbj.3_Missense_Mutation_p.R783Q|SETX_uc010mzt.3_Missense_Mutation_p.R783Q	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1164					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTTTCAGATCGTTTTCTCTT	0.393000														100			24		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854270	12854270	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854270G>T	uc001auj.2	+	2	597	c.494G>T	c.(493-495)aGa>aTa	p.R165I		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	165										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAATGCCTGAGATACCTCTTC	0.468000														460			58		7.06795e-37	8.9667e-37	1	1	0
UBN2	254048	broad.mit.edu	37	7	138968305	138968305	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138968305G>A	uc011kqr.2	+	14	2654	c.2654G>A	c.(2653-2655)aGc>aAc	p.S885N		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	885	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGAGGTCAAGCCAGATTCAC	0.483000														140			17		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23856842	23856842	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23856842C>T	uc001wjv.3	-	31	4617	c.4546G>A	c.(4546-4548)Gag>Aag	p.E1516K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1516					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTAGCTGCTCAGTAAGGTCC	0.587000														160			33		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99422666	99422666	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99422666C>T	uc001kog.1	+	4	982	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PI4K2A_uc010qoy.1_Nonsense_Mutation_p.R279*|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	309	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GTTCACAGATCGAGGCAATGA	0.388000														114			26		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53427635	53427635	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53427635C>A	uc001sbh.4	+	8	1231	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	EIF4B_uc010snu.2_Missense_Mutation_p.P342H|EIF4B_uc010snv.2_Missense_Mutation_p.P303H	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	342					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CGGAGTACTCCTAAGGAAGAT	0.458000														70			15		1.56452e-12	1.80666e-12	1	1	0
ZC3H12A	80149	broad.mit.edu	37	1	37948755	37948755	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:37948755C>T	uc001cbb.4	+	5	1493	c.1343C>T	c.(1342-1344)tCg>tTg	p.S448L	ZC3H12A_uc001cbc.1_Missense_Mutation_p.S243L	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	448					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGCCAGATGTCGGAACTTTGG	0.647000														138			26		0	0	1	0	0
ZNF167	55888	broad.mit.edu	37	3	44612305	44612305	+	Missense_Mutation	SNP	G	A	A	rs147008651	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44612305G>A	uc003cnj.3	+	5	2119	c.1703G>A	c.(1702-1704)cGa>cAa	p.R568Q	ZNF167_uc003cnk.3_Intron|ZNF167_uc010hin.3_Missense_Mutation_p.R568Q|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Intron	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	568					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R568*(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		TGTCTTATTCGACATCAGAGC	0.428000														127			9		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126128656	126128656	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126128656G>A	uc001uhe.1	+	5	1465	c.1457G>A	c.(1456-1458)gGg>gAg	p.G486E	TMEM132B_uc001uhf.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	486						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTGTGAATGGGAAGGAAATG	0.483000														95			26		0	0	1	0	0
COX17	10063	broad.mit.edu	37	3	119394074	119394074	+	Silent	SNP	G	A	A	rs143622776	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119394074G>A	uc003ecz.1	-	1	200	c.114C>T	c.(112-114)atC>atT	p.I38I	AK095366_uc003edb.1_5'Flank	NM_005694	NP_005685	Q14061	COX17_HUMAN	Homo sapiens COX17 cytochrome c oxidase assembly homolog (S. cerevisiae) (COX17), nuclear gene encoding mitochondrial protein, mRNA.	38					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CTCCTTTCTCGATGATACTAT	0.363000														48			12		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31484505	31484505	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31484505G>A	uc002rnu.3	+	4	1614	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	336					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACAACCTGGCCGAGATCTA	0.562000														172			65		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584110	145584110	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584110G>A	uc003zcc.2	+	2	1122	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.A320T|SLC52A2_uc010mfy.2_Missense_Mutation_p.A320T|SLC52A2_uc011llc.2_Missense_Mutation_p.A232T|SLC52A2_uc003zcd.2_Missense_Mutation_p.A320T	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	320						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGGCAGTGCTGCCAATCCCCT	0.657000														262			48		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917907	65917907	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65917907G>A	uc010ujf.2	+	1	1776	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T	SLC24A1_uc010ujd.1_Missense_Mutation_p.A497T|SLC24A1_uc010uje.1_Missense_Mutation_p.A497T|SLC24A1_uc010ujg.2_Missense_Mutation_p.A497T|SLC24A1_uc010ujh.2_Missense_Mutation_p.A497T	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	497					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	p.A497T(2)		breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTGGCAGGCGCCACATTCAT	0.557000														136			54		0	0	1	0	0
YWHAB	7529	broad.mit.edu	37	20	43530459	43530459	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43530459C>T	uc002xmt.3	+	2	567	c.285C>T	c.(283-285)atC>atT	p.I95I	YWHAB_uc002xmu.3_Silent_p.I95I	NM_003404	NP_647539	P31946	1433B_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide (YWHAB), transcript variant 1, mRNA.	95					Ras protein signal transduction|activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				TGCAGGACATCTGCAATGATG	0.413000														119			18		0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202912992	202912992	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202912992C>A	uc001gyq.4	-	5	966	c.699G>T	c.(697-699)caG>caT	p.Q233H	ADIPOR1_uc010pqd.2_Missense_Mutation_p.Q157H|ADIPOR1_uc001gyr.4_Splice_Site_p.P33_splice|ADIPOR1_uc001gys.4_Missense_Mutation_p.Q233H	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	233					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGAGCCGTGGCTGTGGGGAGC	0.507000														76			9		0.00621372	0.00630477	1	1	0
ZAP70	7535	broad.mit.edu	37	2	98351789	98351789	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98351789G>A	uc002syd.1	+	9	1366	c.1159G>A	c.(1159-1161)Gcg>Acg	p.A387T	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.A277T|ZAP70_uc002syf.1_Missense_Mutation_p.A80T	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	387	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATGCGCGAGGCGCAGATCAT	0.652000														307			119		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157504525	157504525	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157504525G>T	uc009wsm.3	-	7	1718	c.1560C>A	c.(1558-1560)ccC>ccA	p.P520P	FCRL5_uc001fqu.3_Silent_p.P520P|FCRL5_uc010phv.1_Silent_p.P520P|FCRL5_uc010phw.1_Silent_p.P435P|FCRL5_uc001fqv.1_Silent_p.P520P|FCRL5_uc010phx.2_Silent_p.P271P	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	520	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTCCCACAGAGGGTGTTGAGC	0.512000														82			15		3.27435e-08	3.57295e-08	1	1	0
MAN2B2	23324	broad.mit.edu	37	4	6599013	6599013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6599013C>T	uc003gjf.1	+	7	1267	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MAN2B2_uc003gje.1_Missense_Mutation_p.R411C|MAN2B2_uc011bwf.1_Missense_Mutation_p.R360C	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	411					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCAGCAGCTTCGCTGGGCCGT	0.632000														199			42		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26705280	26705280	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26705280C>T	uc002rhk.3	-	13	1700	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	525					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.G524E(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACCTTTGTCTCCGTCATTA	0.572000														137			50		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7034541	7034541	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7034541A>G	uc002knm.3	-	13	2082	c.1988T>C	c.(1987-1989)cTt>cCt	p.L663P	LAMA1_uc010wzj.2_Missense_Mutation_p.L139P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	663	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACATTGGCAAGGACAGTCAT	0.408000														112			7		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79841408	79841408	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79841408C>T	uc004akr.3	+	14	1511	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	VPS13A_uc004akp.4_Silent_p.Y417Y|VPS13A_uc004akq.4_Silent_p.Y417Y|VPS13A_uc004aks.3_Silent_p.Y417Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	417					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						ACAAAATTTACAAAGAAGGAG	0.318000														61			14		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790821	133790821	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790821C>A	uc001qgx.4	-	17	3030	c.2799G>T	c.(2797-2799)caG>caT	p.Q933H		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	933	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCGCGGGGCTGGAACCGAG	0.697000														144			45		2.20914e-33	2.79121e-33	1	1	0
TUBA3C	7278	broad.mit.edu	37	13	19751686	19751686	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19751686C>T	uc009zzj.3	-	3	542	c.437G>A	c.(436-438)gGc>gAc	p.G146D		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	146					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.T145N(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAACCCAGAGCCAGTGCCACC	0.562000														168			26		0	0	1	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796399	69796399	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69796399C>T	uc003hef.2	-	4	1200	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	390						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATGGGAACTCCCACCATAGG	0.403000														121			7		0	0	1	0	0
APPL1	26060	broad.mit.edu	37	3	57294725	57294725	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57294725C>T	uc003dio.3	+	18	1912	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W	APPL1_uc010hnb.3_Missense_Mutation_p.R589W|APPL1_uc011bey.1_Missense_Mutation_p.R572W	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	589	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R589Q(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		ATTTGTTCTTCGGACATCAAG	0.393000														185			33		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56270749	56270749	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56270749G>A	uc002ivq.3	+	2	307	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	63					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R63H(2)|p.R63C(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAGCGGCTTCGCAGCGGTTCA	0.612000														304			45		0	0	1	0	0
CCDC159	126075	broad.mit.edu	37	19	11459744	11459744	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11459744C>T	uc010xlw.1	+	1	222	c.143C>T	c.(142-144)gCa>gTa	p.A48V	TMEM205_uc002mra.2_5'Flank|TMEM205_uc002mrb.2_5'Flank|TMEM205_uc002mqz.2_5'Flank|CCDC159_uc010xlr.2_Intron|CCDC159_uc010xls.2_Intron|CCDC159_uc010xlt.2_Intron|CCDC159_uc010xlu.2_Intron|CCDC159_uc010xlv.2_Intron	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	80										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						GTGAGGACTGCAGACTGCAGG	0.617000														29			5		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99657821	99657821	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99657821T>G	uc010nmz.3	-	2	3993	c.2317A>C	c.(2317-2319)Aag>Cag	p.K773Q	PCDH19_uc004efw.4_Missense_Mutation_p.K726Q|PCDH19_uc004efx.4_Missense_Mutation_p.K726Q	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	773					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CTTGATTTCTTTTGATGCCCA	0.423000														71			17		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14548183	14548183	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14548183A>G	uc010neq.3	+	0	764	c.4A>G	c.(4-6)Aac>Gac	p.N2D	GLRA2_uc004cwe.4_Missense_Mutation_p.N2D|GLRA2_uc011mio.2_5'UTR|GLRA2_uc010nep.3_Missense_Mutation_p.N2D|GLRA2_uc011mip.2_5'Flank	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	2					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AACAGGAATGAACCGGCAGCT	0.378000														83			25		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100189512	100189512	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100189512G>A	uc011kjz.1	+	3	727	c.659G>A	c.(658-660)cGt>cAt	p.R220H	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R168H|FBXO24_uc003uvm.1_Missense_Mutation_p.R182H|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.R170H	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	182						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGTGTCGTGGAGCCAAG	0.552000														152			39		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573467	140573467	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573467G>A	uc003lix.3	+	0	1516	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	448	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.597000														269			56		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131749134	131749134	+	Silent	SNP	C	T	T	rs141269541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131749134C>T	uc004bws.1	+	21	2266	c.2244C>T	c.(2242-2244)caC>caT	p.H748H	NUP188_uc004bwu.3_Silent_p.H91H	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	748					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGTGCCACGAGACAGACC	0.507000														104			19		0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57626282	57626282	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626282G>A	uc001snf.2	+	5	847	c.641G>A	c.(640-642)cGa>cAa	p.R214Q	SHMT2_uc001snh.2_Missense_Mutation_p.R216Q|SHMT2_uc009zpk.2_Missense_Mutation_p.R204Q|SHMT2_uc001sng.2_Missense_Mutation_p.R110Q|SHMT2_uc001sni.2_Missense_Mutation_p.R193Q|SHMT2_uc010srg.2_Missense_Mutation_p.R223Q|SHMT2_uc010srh.2_Missense_Mutation_p.R193Q|SHMT2_uc001snj.2_Missense_Mutation_p.R118Q|SHMT2_uc010sri.2_Missense_Mutation_p.R193Q|SHMT2_uc001snk.2_Missense_Mutation_p.R118Q|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	214						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTGACTGCTCGACTTTTCCGG	0.582000														299			66		0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36229026	36229026	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36229026C>T	uc010mlh.3	-	5	1283	c.1062G>A	c.(1060-1062)caG>caA	p.Q354Q	GNE_uc010mlg.3_Silent_p.Q354Q|GNE_uc011lpl.2_Silent_p.Q244Q|GNE_uc010mli.3_Silent_p.Q385Q|GNE_uc010mlj.3_Silent_p.Q349Q	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	354					N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACCAAGGGTACTGTTTACCAA	0.403000														138			32		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766994	130766994	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130766994C>T	uc003kvn.2	-	25	4229	c.4023G>A	c.(4021-4023)tcG>tcA	p.S1341S	RAPGEF6_uc003kvp.2_Silent_p.S1391S|RAPGEF6_uc003kvo.2_Silent_p.S1354S|RAPGEF6_uc010jdi.2_Silent_p.S1349S|RAPGEF6_uc010jdj.2_Silent_p.S1349S|RAPGEF6_uc003kvm.2_Silent_p.S264S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1341	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGCTCACAGACGATGAGACAG	0.423000														99			21		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109768629	109768629	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768629G>A	uc011eaq.2	-	15	2349	c.2058C>T	c.(2056-2058)acC>acT	p.T686T	MICAL1_uc003ptj.3_Silent_p.T667T|MICAL1_uc003ptk.3_Silent_p.T667T|MICAL1_uc010kdr.3_Silent_p.T581T	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	667					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CAGTACTTGGGGTCTCGGCCT	0.617000														105			10		0	0	1	0	0
FAM50B	26240	broad.mit.edu	37	6	3850321	3850321	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3850321G>T	uc003mvu.3	+	1	388	c.276G>T	c.(274-276)caG>caT	p.Q92H	FAM50B_uc021ykt.1_Missense_Mutation_p.Q92H	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	92						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCAAGCGCCAGCACCTGGAGG	0.682000														51			10		0.000442599	0.000455268	1	1	0
CLIP2	7461	broad.mit.edu	37	7	73768325	73768325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73768325C>T	uc003uam.3	+	3	1121	c.794C>T	c.(793-795)gCg>gTg	p.A265V	CLIP2_uc003uan.3_Missense_Mutation_p.A265V	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	265	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGGGCGGTGGCGGGCACCAGG	0.652000														313			67		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31597990	31597990	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31597990G>T	uc001wrc.1	-	24	5076	c.4587C>A	c.(4585-4587)agC>agA	p.S1529R	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.S997R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1529	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGCACTAGAGCTCATAGGGG	0.453000														59			19		1.67942e-08	1.84125e-08	1	1	0
ANKMY1	51281	broad.mit.edu	37	2	241468599	241468599	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241468599G>A	uc010fzd.1	-	4	933	c.808C>T	c.(808-810)Ccc>Tcc	p.P270S	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.P181S|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	181							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		CTTGTCATGGGCAGGTGGTCA	0.468000														151			49		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393838	179393838	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179393838G>T	uc021vsy.1	-	308	99161	c.98936C>A	c.(98935-98937)tCt>tAt	p.S32979Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S26674Y|TTN_uc021vta.1_Missense_Mutation_p.S26607Y|TTN_uc021vtb.1_Missense_Mutation_p.S26482Y|TTN_uc002umq.3_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33906							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)			AATTTCTTCAGACCTTAGGGC	0.393000														36			15		2.61681e-11	2.97614e-11	1	1	0
GALNTL4	374378	broad.mit.edu	37	11	11362395	11362395	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11362395C>T	uc001mjo.2	-	6	1670	c.1249G>A	c.(1249-1251)Gtc>Atc	p.V417I		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	417						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GCCATGTAGACGTGGCTTTTA	0.532000														392			79		0	0	1	0	0
PELI3	246330	broad.mit.edu	37	11	66243552	66243552	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66243552T>C	uc001oic.4	+	7	1488	c.1324T>C	c.(1324-1326)Ttc>Ctc	p.F442L	PELI3_uc021qlx.1_Missense_Mutation_p.F418L|PELI3_uc001oid.4_Missense_Mutation_p.F418L|PELI3_uc021qly.1_Missense_Mutation_p.F335L	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	442						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CACCCATGCTTTCCATGCCGC	0.672000														43			8		0	0	1	0	0
BSG	682	broad.mit.edu	37	19	578071	578071	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:578071C>T	uc002loz.3	+	1	463	c.365C>T	c.(364-366)gCg>gTg	p.A122V	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	122					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCCGGGCGCCCAGGGTC	0.687000														55			13		0	0	1	0	0
ZADH2	284273	broad.mit.edu	37	18	72913911	72913911	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72913911G>A	uc002llx.3	-	1	862	c.594C>T	c.(592-594)tgC>tgT	p.C198C	ZADH2_uc010dqv.3_Silent_p.C75C	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	198						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CAATTACATGGCACTTTGCCT	0.478000														473			49		0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160679678	160679678	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160679678C>T	uc003qtf.3	-	0	286	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	SLC22A2_uc003qth.2_Missense_Mutation_p.V38M	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	38					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ACGATGCCCACGTAGATGGGC	0.607000														259			15		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103559127	103559127	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103559127G>A	uc001ktv.2	-	8	1724	c.1281C>T	c.(1279-1281)acC>acT	p.T427T	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Silent_p.T374T|MGEA5_uc009xws.2_Silent_p.T374T|MGEA5_uc001ktw.2_Silent_p.T427T|MGEA5_uc009xwt.2_Silent_p.T190T	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	427					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTGTTACTACGGTTGTGGCAT	0.453000														184			32		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902766	236902766	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902766G>A	uc001hyf.2	+	9	1245	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	ACTN2_uc001hyg.2_Silent_p.T139T|ACTN2_uc009xgi.1_Silent_p.T347T|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	347					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACTTCAACACGCTGCAGACCA	0.597000														157			26		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9506325	9506325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9506325C>T	uc003brt.3	+	17	3128	c.2693C>T	c.(2692-2694)gCt>gTt	p.A898V	SETD5_uc003brs.1_Missense_Mutation_p.A879V|SETD5_uc003bru.3_Missense_Mutation_p.A800V|SETD5_uc003brv.3_Missense_Mutation_p.A787V|SETD5_uc010hck.3_Missense_Mutation_p.A380V|SETD5_uc003brx.3_Missense_Mutation_p.A567V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	898										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CTTACTACTGCTAGTCGCTGC	0.468000														191			44		0	0	1	0	0
SFRP2	6423	broad.mit.edu	37	4	154702681	154702681	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154702681G>A	uc003inv.1	-	2	1051	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	270	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCACCGAGGTGATCACCAGCT	0.592000														143			32		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49850508	49850508	+	Missense_Mutation	SNP	G	A	A	rs148849452	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49850508G>A	uc003cxr.3	-	3	625	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	152	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ACGAGGCCCCGGGTGTCAGCC	0.602000														71			12		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	53786923	53786923	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53786923G>A	uc003gzu.3	-	5	1810	c.1676C>T	c.(1675-1677)tCt>tTt	p.S559F	SCFD2_uc010igm.3_Missense_Mutation_p.S559F	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	559					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AACATATACAGACTTAAACTG	0.378000														90			10		0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108227665	108227665	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108227665C>T	uc003psc.4	-	9	1217	c.948G>A	c.(946-948)gaG>gaA	p.E316E	SEC63_uc003psb.4_Silent_p.E176E	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	316	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTCAAGGGTCTCAGGAATTT	0.388000														121			26		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8993578	8993578	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8993578G>A	uc002czl.2	-	21	2545	c.2346C>T	c.(2344-2346)acC>acT	p.T782T	USP7_uc010uyk.1_Silent_p.T683T|USP7_uc010uyj.1_Silent_p.T683T|USP7_uc002czk.2_Silent_p.T766T	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	782	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTCCTTTGCGGTGGGTAATT	0.428000														103			23		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98562313	98562313	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98562313C>T	uc003upp.3	+	46	7079	c.6870C>T	c.(6868-6870)atC>atT	p.I2290I	TRRAP_uc011kis.2_Silent_p.I2272I|TRRAP_uc003upr.3_Silent_p.I1989I	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2290	Interaction with TP53.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAGGCTGATCTCCGTCTTTA	0.512000														102			28		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25913550	25913550	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25913550G>A	uc011dkb.2	-	10	1515	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	SLC17A2_uc011dkc.2_3'UTR|SLC17A2_uc003nfl.3_Silent_p.A428A			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TGTCCTCAGAGGCGGGTAAGG	0.428000														132			29		0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676536	123676536	+	Missense_Mutation	SNP	G	T	T	rs141670886		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123676536G>T	uc010rzz.2	-	0	522	c.522C>A	c.(520-522)ttC>ttA	p.F174L		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTCACAGAAGAAATGATTAA	0.463000														115			19		7.21436e-19	8.73891e-19	1	1	0
DENND4B	9909	broad.mit.edu	37	1	153903473	153903473	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903473G>A	uc001fdd.1	-	24	4465	c.4064C>T	c.(4063-4065)aCc>aTc	p.T1355I		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1355										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGTCAGGGGTCAGTACATC	0.597000														34			15		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	841944	841944	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:841944G>A	uc002ckf.4	+	7	1345	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	CHTF18_uc010uus.1_3'UTR|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.A400T|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_5'UTR	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	400					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAGATGAACGCCAGGTGAGT	0.627000														30			5		0	0	1	0	0
MYB	4602	broad.mit.edu	37	6	135518322	135518322	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135518322C>A	uc003qfh.3	+	9	1626	c.1427C>A	c.(1426-1428)cCa>cAa	p.P476Q	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Intron|MYB_uc003qfk.3_Intron|MYB_uc003qfc.3_Intron|MYB_uc003qfr.3_Intron|MYB_uc003qft.3_Intron|MYB_uc003qfs.3_Intron|MYB_uc003qfw.3_Intron|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Missense_Mutation_p.P473Q|MYB_uc010kgj.3_Intron|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Intron|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Intron|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Intron|MYB_uc003qgb.3_Intron|MYB_uc010kgk.3_Intron|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Missense_Mutation_p.P460Q|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Intron|MYB_uc003qff.3_Intron|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Intron|MYB_uc003qfb.1_Intron|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	449					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		AGCACAATTCCACTGGTCATC	0.527000			T	NFIB	adenoid cystic carcinoma									119			17		7.07596e-05	7.35997e-05	1	1	0
KIAA0317	9870	broad.mit.edu	37	14	75142633	75142633	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142633G>A	uc001xqb.3	-	7	1354	c.849C>T	c.(847-849)atC>atT	p.I283I	KIAA0317_uc010tut.1_Silent_p.I122I	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TGCGTTCGACGATATTCTTCT	0.413000														193			41		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119234403	119234403	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119234403A>G	uc003ica.2	-	6	1489	c.1442T>C	c.(1441-1443)gTt>gCt	p.V481A		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	481	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GGCAATGCTAACATCTTCGCG	0.547000														86			15		0	0	1	0	0
APBA3	9546	broad.mit.edu	37	19	3753771	3753771	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3753771C>T	uc002lyp.1	-	5	1180	c.1003G>A	c.(1003-1005)Gcg>Acg	p.A335T	APBA3_uc002lyo.1_Missense_Mutation_p.A93T	NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	335	PID.				intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTCCTCCGCGTAGAATACG	0.697000														15			8		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31920095	31920095	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31920095G>A	uc003nyk.3	-	10	1330	c.1126C>T	c.(1126-1128)Ctt>Ttt	p.L376F	RDBP_uc011dot.2_Missense_Mutation_p.L346F	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	376					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CCATCCACAAGGTTTTCCTTG	0.522000														82			19		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148979385	148979385	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148979385G>A	uc011kuo.2	+	5	1755	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	AF035281_uc003wfr.4_Intron|LOC155060_uc011kup.1_5'Flank|AF035281_uc003wft.4_5'Flank	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	531					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GCCCCCGCCCGCCACGGGAGC	0.731000														23			8		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109389383	109389383	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109389383A>C	uc002tem.4	+	22	8299	c.8173A>C	c.(8173-8175)Aaa>Caa	p.K2725Q		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2725	2 X 50 AA approximate repeats.|Interaction with SUMO1.				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						AGAGAAGGCAAAAGCAGATAC	0.353000														56			5		0	0	1	0	0
KRT8P41	283102	broad.mit.edu	37	11	9117139	9117139	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9117139C>A	uc010rbv.1	+	0		c.1230C>A								Homo sapiens keratin 8 pseudogene 41 (KRT8P41), non-coding RNA.																		GGTGCAGCAGCTGTGCCATGG	0.612000														131			29		8.58068e-18	1.03204e-17	1	1	0
SEMA3A	10371	broad.mit.edu	37	7	83675699	83675699	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:83675699C>T	uc003uhz.3	-	5	923	c.608G>A	c.(607-609)cGa>cAa	p.R203Q		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	203	Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCCAAGAGTTCGGAAGATAGC	0.428000														179			41		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152352790	152352790	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152352790C>T	uc021vrb.1	-	139	18947	c.18918_splice	c.e139+1	p.S6306_splice	NEB_uc002txr.3_Splice_Site_p.S2741_splice|NEB_uc002txu.3_Splice_Site_p.S8162_splice|NEB_uc021vrc.1_Splice_Site_p.S8162_splice|NEB_uc010fnx.3_Splice_Site_p.S6294_splice|NEB_uc021vrd.1_Splice_Site_p.S6306_splice|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Splice_Site_p.S106_splice|NEB_uc002txq.3_Splice_Site_p.S185_splice|NEB_uc010zca.2_Splice_Site_p.S137_splice|NEB_uc010zcb.2_Splice_Site_p.S106_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6306					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.S8162S(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCCAAGTACCGAGCTAATAT	0.333000														20			11		0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112228631	112228631	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112228631G>T	uc021ycm.1	+	0	1323	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	SRP19_uc011cvu.2_3'UTR|REEP5_uc011cvw.1_Intron|REEP5_uc003kqe.1_Intron|REEP5_uc011cvx.1_Intron|REEP5_uc011cvy.1_Intron|REEP5_uc011cvz.1_Intron					RecName: Full=U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1; AltName: Full=CCCH type zinc finger, RNA-binding motif and serine/arginine rich protein 1; AltName: Full=U2(RNU2) small nuclear RNA auxiliary factor 1-like 1;											breast(1)|skin(1)|stomach(2)	4						GGAAGAAATAGGCACCGCAGC	0.572000														30			13		5.50884e-06	5.8131e-06	1	1	0
LINGO4	339398	broad.mit.edu	37	1	151773618	151773618	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151773618G>A	uc001ezf.1	-	1	1753	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	LINGO4_uc021oyu.1_Silent_p.I521I	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	521						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGGCCCTGGGATCCCTGGCA	0.577000														372			86		0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62729775	62729775	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62729775C>T	uc002yic.3	+	4	1155	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	OPRL1_uc002yid.3_Missense_Mutation_p.R246C|OPRL1_uc021wgs.1_Missense_Mutation_p.R246C|OPRL1_uc002yif.4_Missense_Mutation_p.R241C	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	246					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CCGTGGAGTCCGCCTGCTCTC	0.632000														279			50		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17756803	17756803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17756803G>A	uc021uqk.1	-	17	2201	c.2159C>T	c.(2158-2160)cCg>cTg	p.P720L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	721	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCCCACACCGGGTTGAGGTT	0.572000														34			8		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756950	56756950	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56756950T>G	uc010rjp.2	+	0	562	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TCTTGCTCTTTCATGCTCCAA	0.398000														310			68		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33287473	33287473	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33287473T>C	uc003oec.3	-	5	1828	c.1624A>G	c.(1624-1626)Agc>Ggc	p.S542G	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.S542G|DAXX_uc021ywo.1_Missense_Mutation_p.S542G|DAXX_uc011dre.2_Missense_Mutation_p.S554G|DAXX_uc003oed.3_Missense_Mutation_p.S542G|DAXX_uc011drd.2_Missense_Mutation_p.S467G	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	542	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATCTATGCTGGAGGGGGCC	0.522000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									168			35		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38292919	38292919	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38292919A>G	uc003chy.3	+	15	1743	c.1401A>G	c.(1399-1401)gaA>gaG	p.E467E	OXSR1_uc010hhb.3_Silent_p.E401E	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	467					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCTCTCAGGAACTCATTTCTG	0.478000														319			69		0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101141638	101141638	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101141638G>A	uc011mrl.2	-	5	921	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	ZMAT1_uc004eim.3_Missense_Mutation_p.R20W|ZMAT1_uc004ein.3_Missense_Mutation_p.R20W|ZMAT1_uc011mrm.2_Missense_Mutation_p.R20W	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	20						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						ATGTGGGACCGGAACATATCT	0.348000														47			13		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31089384	31089384	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31089384G>A	uc002eap.3	+	1	2028	c.1739G>A	c.(1738-1740)tGt>tAt	p.C580Y	ZNF646_uc021tgu.1_Missense_Mutation_p.C580Y	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TGTAGCATCTGTGGGCTGCTC	0.532000														160			26		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623794	9623794	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623794G>A	uc003wss.3	+	24	3604	c.3599G>A	c.(3598-3600)cGa>cAa	p.R1200Q	TNKS_uc011kww.2_Missense_Mutation_p.R963Q	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1200	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.R1200Q(3)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TTTGATGAGCGACATGCATAC	0.383000														116			28		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503186	140503186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503186G>A	uc003lip.1	+	0	1606	c.1606G>A	c.(1606-1608)Ggt>Agt	p.G536S		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAGACCGCGGTTCTCCGGC	0.662000														323			74		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231256917	231256917	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231256917C>T	uc010fxm.1	+	11	1171	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	SP140L_uc010fxo.1_Silent_p.G132G	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	360	SAND.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						TGCGCTGTGGCGGGTGGCCCC	0.493000														112			33		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14187592	14187592	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14187592C>A	uc011ave.2	-	15	2776	c.2672G>T	c.(2671-2673)aGc>aTc	p.S891I	XPC_uc011avf.2_Missense_Mutation_p.S698I|XPC_uc011avg.2_Missense_Mutation_p.S854I	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	891	Interaction with ERCC2 and GTF2H1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCTTGAGAGCTGGTCCCCTC	0.577000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					74			20		1.33834e-09	1.48855e-09	1	1	0
PHKB	5257	broad.mit.edu	37	16	47730390	47730390	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47730390C>T	uc002eev.4	+	28	3046	c.2994C>T	c.(2992-2994)atC>atT	p.I998I	PHKB_uc002eeu.4_Silent_p.I991I|PHKB_uc002eew.4_Silent_p.I239I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	998					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ACAGACAGATCGTTGTAGAGG	0.423000														83			17		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39328261	39328261	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39328261G>A	uc003oot.2	-	17	2087	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KIF6_uc003oos.2_Silent_p.I115I|KIF6_uc010jwz.1_Silent_p.I39I|KIF6_uc010jxa.1_Silent_p.I455I|KIF6_uc011dua.1_Silent_p.I647I|KIF6_uc010jxb.1_Silent_p.I608I	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	664					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCAAGTGCTCGATCTCCACCT	0.542000														136			41		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53043735	53043735	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53043735C>T	uc001sat.3	-	2	857	c.824G>A	c.(823-825)cGc>cAc	p.R275H		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	275	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGCAGCTGTGCGCTTATTGAT	0.433000														99			16		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167802330	167802330	+	Missense_Mutation	SNP	C	T	T	rs143185037		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167802330C>T	uc001ger.3	-	24	3786	c.3488G>A	c.(3487-3489)cGa>cAa	p.R1163Q	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.R1010Q|ADCY10_uc009wvk.3_Missense_Mutation_p.R1071Q	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGGAAAGATTCGGTTGAGGAG	0.468000														336			97		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99039839	99039839	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99039839A>G	uc003yic.3	+	13	2369	c.2138A>G	c.(2137-2139)aAc>aGc	p.N713S	MATN2_uc010mbh.1_Missense_Mutation_p.N672S|MATN2_uc003yid.3_Missense_Mutation_p.N713S|MATN2_uc003yie.1_Missense_Mutation_p.N713S|MATN2_uc010mbi.1_Missense_Mutation_p.N546S|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	713	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AGAAACTTCAACTCAGCCAAA	0.478000														67			16		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811271	23811271	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23811271C>A	uc001ywh.4	+	0	818	c.342C>A	c.(340-342)aaC>aaA	p.N114K	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.N114K	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	114						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AGGGGGAGAACTGTCGCTATT	0.607000														186			43		5.20837e-25	6.48422e-25	1	1	0
SLC24A4	123041	broad.mit.edu	37	14	92909751	92909751	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92909751G>A	uc001yak.3	+	6	613	c.590G>A	c.(589-591)cGt>cAt	p.R197H	SLC24A4_uc001yai.3_Missense_Mutation_p.R133H|SLC24A4_uc010twm.2_Missense_Mutation_p.R197H|SLC24A4_uc010auj.3_Missense_Mutation_p.R88H|SLC24A4_uc010twn.2_5'UTR	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	197						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.S196Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		CAGGTGGTCCGTCTGACGTGG	0.657000														93			15		0	0	1	0	0
TGFB1	7040	broad.mit.edu	37	19	41854288	41854288	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41854288G>A	uc002oqh.2	-	1	1310	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BCKDHA_uc002oqi.3_5'Flank	NM_000660	NP_000651	P01137	TGFB1_HUMAN	Homo sapiens transforming growth factor, beta 1 (TGFB1), mRNA.	143					ATP biosynthetic process|SMAD protein complex assembly|SMAD protein import into nucleus|active induction of host immune response by virus|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of DNA replication|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of SMAD protein import into nucleus|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway|viral infectious cycle	Golgi lumen|extracellular space|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix	growth factor activity|type II transforming growth factor beta receptor binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)	8					Hyaluronidase(DB00070)	TTCAGGTACCGCTTCTCGGAG	0.507000														245			58		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75187529	75187529	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75187529C>A	uc003uds.2	-	14	1451	c.1406G>T	c.(1405-1407)aGc>aTc	p.S469I	HIP1_uc011kfz.2_Missense_Mutation_p.S469I	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	469	pDED.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTTTAGCTTGCTATATCGCTG	0.542000			T	PDGFRB	CMML									140			23		6.36457e-07	6.82071e-07	1	1	0
HOXC11	3227	broad.mit.edu	37	12	54367428	54367428	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54367428G>A	uc001sem.3	+	0	519	c.403G>A	c.(403-405)Gcc>Acc	p.A135T		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	135					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CGCAACCCCCGCCGGCTTCTA	0.657000			T	NUP98	AML									604			22		0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411733	79411733	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79411733G>A	uc002kaf.2	+	6	2366	c.2366G>A	c.(2365-2367)gGc>gAc	p.G789D	BAHCC1_uc002kae.2_Missense_Mutation_p.G50D	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	851	Pro-rich.						DNA binding	p.P789L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CTGCCCCCCGGCTTCCCCGCC	0.711000														109			34		0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70486761	70486761	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70486761C>T	uc001dep.3	+	13	1410	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	460						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTTGCCTTTGAATTTG	0.378000														56			7		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118298138	118298138	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118298138C>A	uc001two.2	-	1	247	c.192G>T	c.(190-192)cgG>cgT	p.R64R		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	93					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAACCAGTGCCGTAGCTGGG	0.632000														96			7		2.0095e-06	2.13635e-06	1	1	0
ING1	3621	broad.mit.edu	37	13	111368056	111368056	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111368056C>A	uc001vri.3	+	0	698	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	89					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCTCCTGGCCTCCGCCCTCC	0.697000														28			8		1.06961e-07	1.15953e-07	1	1	0
MCM3	4172	broad.mit.edu	37	6	52148176	52148176	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52148176A>G	uc003pan.1	-	1	217	c.107T>C	c.(106-108)gTt>gCt	p.V36A	MCM3_uc011dwu.1_Intron	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	36					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CAGCTCCCGAACTTTGCTCTG	0.453000														121			19		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33399973	33399973	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33399973C>A	uc011dri.2	+	3	526	c.331C>A	c.(331-333)Cca>Aca	p.P111T	SYNGAP1_uc003oeo.1_Missense_Mutation_p.P96T|SYNGAP1_uc010juy.3_Missense_Mutation_p.P96T	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	111					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding	p.F111F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						GAAGAGTGTCCCAGGGGGGAA	0.637000														85			10		7.03913e-09	7.75971e-09	1	1	0
ITGAE	3682	broad.mit.edu	37	17	3632827	3632827	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3632827C>A	uc002fwo.4	-	23	2956	c.2857G>T	c.(2857-2859)Gcc>Tcc	p.A953S		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	953					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GTCTCGTTGGCCAAAGACCGT	0.493000														159			30		5.91797e-21	7.2477e-21	1	1	0
ZDHHC17	23390	broad.mit.edu	37	12	77239525	77239525	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77239525T>C	uc001syk.1	+	12	1529	c.1366T>C	c.(1366-1368)Tgc>Cgc	p.C456R		NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	Homo sapiens zinc finger, DHHC-type containing 17 (ZDHHC17), mRNA.	456					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTGTGGTGTGTGCAACCGCTG	0.363000														140			27		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87677922	87677922	+	Silent	SNP	C	T	T	rs140115944	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87677922C>T	uc002fkd.3	+	1	695	c.441C>T	c.(439-441)agC>agT	p.S147S	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	147					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TCCGGCAGAGCGTCCCGTATG	0.677000														246			85		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139265101	139265101	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139265101G>A	uc003qii.3	-	5	1384	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	REPS1_uc003qig.4_Missense_Mutation_p.R269C|REPS1_uc011edr.2_Missense_Mutation_p.R269C|REPS1_uc003qij.3_Missense_Mutation_p.R269C|REPS1_uc003qik.3_Intron	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	269						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GATTGCCTACGAATTTCAATG	0.363000														52			16		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172944904	172944904	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172944904C>T	uc002uhk.3	+	8	972	c.899C>T	c.(898-900)gCa>gTa	p.A300V	METAP1D_uc010zdw.2_Missense_Mutation_p.A182V	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	300					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						ctggaggatgcatggactgtg	0.448000														216			40		0	0	1	0	0
HPCAL4	51440	broad.mit.edu	37	1	40150155	40150155	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40150155C>T	uc001cdr.3	-	1	241	c.121G>A	c.(121-123)Ggc>Agc	p.G41S	HPCAL4_uc010oix.2_Missense_Mutation_p.G41S	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	41	EF-hand 1.				central nervous system development	intracellular	calcium ion binding	p.S40S(1)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTGAGGATGCCGCTGGGGCAG	0.622000														59			6		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697702	99697702	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697702C>T	uc001yga.3	-	2	887	c.620G>A	c.(619-621)gGa>gAa	p.G207E	BCL11B_uc001ygb.3_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	207						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACTGGCATCCAAAGGGAGC	0.721000			T	TLX3	T-ALL									60			17		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69725910	69725910	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725910C>T	uc002exm.2	+	11	2464	c.2128C>T	c.(2128-2130)Cag>Tag	p.Q710*	NFAT5_uc002exj.2_Nonsense_Mutation_p.Q634*|NFAT5_uc002exk.2_Nonsense_Mutation_p.Q634*|NFAT5_uc002exl.2_Nonsense_Mutation_p.Q728*|NFAT5_uc002exn.2_Nonsense_Mutation_p.Q727*|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Nonsense_Mutation_p.Q634*	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	710					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAGGCTACACAGTTTCAGAC	0.453000														112			30		0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90048877	90048877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90048877C>T	uc001dni.3	+	6	1175	c.668C>T	c.(667-669)tCc>tTc	p.S223F	LRRC8B_uc001dnh.3_Missense_Mutation_p.S223F|LRRC8B_uc001dnj.3_Missense_Mutation_p.S223F	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	223						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGCCCAACTTCCAGTGTCCTG	0.488000														85			29		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485422	52485422	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485422G>A	uc003deb.3	-	4	465	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	147	EF-hand 4.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding	p.R147C(2)		endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	TAGTCGATGCGGCCGTCGTTG	0.592000														91			22		0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65178816	65178816	+	Silent	SNP	C	A	A	rs139752903		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178816C>A	uc002lke.1	-	1	4284	c.3060G>T	c.(3058-3060)acG>acT	p.T1020T	DSEL_uc021ulg.1_Silent_p.T1020T	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1010						integral to membrane	isomerase activity|sulfotransferase activity	p.T1020M(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAGCTTTAACGTCCAGCTTC	0.418000														126			30		2.08457e-15	2.46654e-15	1	1	0
AKAP7	9465	broad.mit.edu	37	6	131602681	131602681	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131602681G>A	uc003qck.3	+	7	940	c.796G>A	c.(796-798)Gga>Aga	p.G266R	AKAP7_uc003qcm.2_Missense_Mutation_p.G44R|AKAP7_uc003qcn.2_Missense_Mutation_p.G21R	NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	44					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		TGAAAAGAACGGAGGGGAGCC	0.507000														80			15		0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788516	26788516	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26788516A>C	uc001uqo.3	-	4	1848	c.1503T>G	c.(1501-1503)gaT>gaG	p.D501E	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.D501E|RNF6_uc001uqq.3_Missense_Mutation_p.D501E|RNF6_uc010tdk.2_Missense_Mutation_p.D145E	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	501					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTGACTCAGAATCGGCCTCCA	0.458000														140			20		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48185667	48185667	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48185667C>T	uc010slo.2	-	13	1994	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	HDAC7_uc001rqe.3_Missense_Mutation_p.R34Q|HDAC7_uc001rqj.4_Missense_Mutation_p.R563Q|HDAC7_uc001rqk.4_Missense_Mutation_p.R583Q	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	561	Histone deacetylase.				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		ACACTGGCTCCGGAGCCCCCG	0.706000														64			22		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301583	42301583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301583C>T	uc002orn.1	+	1	203	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	CEACAM3_uc010eia.1_Missense_Mutation_p.L43F|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	43	Ig-like V-type.					integral to membrane		p.P42P(1)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						ATCCATGCCGCTCAGTGTCGC	0.517000														251			62		0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220100257	220100257	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220100257C>T	uc002vkg.3	+	10	1927	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	ANKZF1_uc002vkh.3_Nonsense_Mutation_p.R375*|ANKZF1_uc002vki.3_Nonsense_Mutation_p.R585*	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	585						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATGAGTTCCGAAGGTTCAT	0.488000														120			38		0	0	1	0	0
TOX3	27324	broad.mit.edu	37	16	52473589	52473589	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:52473589C>T	uc002egw.2	-	6	1450	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	TOX3_uc010vgt.1_Missense_Mutation_p.A422T	NM_001080430	NP_001073899	O15405	TOX3_HUMAN	Homo sapiens TOX high mobility group box family member 3 (TOX3), transcript variant 1, mRNA.	427					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GTGGAGGGTGCTGAGCCAACC	0.532000														126			29		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200819344	200819344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200819344C>A	uc001gvl.3	+	11	3750	c.3480C>A	c.(3478-3480)tgC>tgA	p.C1160*	CAMSAP2_uc001gvk.3_Nonsense_Mutation_p.C1149*|CAMSAP2_uc001gvm.3_Nonsense_Mutation_p.C1133*	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1160						cytoplasm|microtubule	protein binding										AGAAAGTATGCTGTGGATTCT	0.353000														139			17		5.01169e-05	5.22235e-05	1	1	0
BTNL9	153579	broad.mit.edu	37	5	180480219	180480219	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180480219C>A	uc003mmt.3	+	4	987	c.756C>A	c.(754-756)gcC>gcA	p.A252A	BTNL9_uc011dhi.1_Silent_p.A183A	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	252						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TACCCGGAGCCTCTGCGTGGA	0.721000														37			8		0.00307968	0.00313564	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61513253	61513253	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61513253T>C	uc002ydr.2	-	15	4367	c.4055A>G	c.(4054-4056)gAc>gGc	p.D1352G	DIDO1_uc002yds.2_Missense_Mutation_p.D1352G	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1352					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.D1352D(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCACCCCGTCCTCTGCTGT	0.577000														311			75		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346643	89346643	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346643G>T	uc002fmx.1	-	8	6768	c.6307C>A	c.(6307-6309)Ctg>Atg	p.L2103M	ANKRD11_uc002fmy.1_Missense_Mutation_p.L2103M|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2103M|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2060M	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2103	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCCGTCCAGGAAGCTATTT	0.716000														100			17		3.45872e-05	3.61362e-05	1	1	0
MMP26	56547	broad.mit.edu	37	11	5013323	5013323	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013323C>T	uc001lzv.3	+	4	743	c.725C>T	c.(724-726)gCc>gTc	p.A242V		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	242					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGCTCAGTGCCGATGATATC	0.473000														91			9		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77425553	77425553	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77425553G>A	uc021sqy.1	-	6	4447	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1291					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGAAGGCTTCGGATTTTACCC	0.527000														250			46		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142168272	142168272	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142168272C>T	uc003eux.4	-	46	8056	c.7934G>A	c.(7933-7935)tGa>tAa	p.*2645*	XRN1_uc003eus.3_5'Flank|XRN1_uc003eut.3_5'Flank|XRN1_uc003euu.3_5'Flank|XRN1_uc003euw.3_5'Flank|XRN1_uc011bnh.2_5'Flank|ATR_uc003euy.1_3'UTR	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	0					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AATTTCATTTCACATATATGG	0.313000								Other conserved DNA damage response genes						62			17		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927041	55927041	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927041G>T	uc010rja.2	-	0	753	c.753C>A	c.(751-753)ttC>ttA	p.F251L		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GAGACCCATAGAACACAACCA	0.413000														90			21		6.33239e-15	7.46874e-15	1	1	0
GALNT7	51809	broad.mit.edu	37	4	174235199	174235199	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:174235199G>A	uc003isz.4	+	8	1563	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	GALNT7_uc011ckb.2_Missense_Mutation_p.D271N	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	494					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCATATGGGGATATATCGGA	0.373000														93			20		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070821	70070821	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70070821T>G	uc010kak.3	+	27	3932	c.3656T>G	c.(3655-3657)aTt>aGt	p.I1219S	BAI3_uc003pev.4_Missense_Mutation_p.I1219S|BAI3_uc011dxx.2_Missense_Mutation_p.I425S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1219					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTTTCTAGGATTTCTCTAAAT	0.393000														107			18		0	0	1	0	0
CCDC78	124093	broad.mit.edu	37	16	775563	775563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:775563G>A	uc002cjg.3	-	3	391	c.285C>T	c.(283-285)agC>agT	p.S95S	CCDC78_uc002cjh.3_5'UTR|CCDC78_uc002cji.3_Silent_p.S169S|CCDC78_uc002cjj.3_Intron|CCDC78_uc010uuo.1_Silent_p.S95S|CCDC78_uc002cjk.2_Silent_p.S95S|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	Homo sapiens coiled-coil domain containing 78 (CCDC78), mRNA.	95										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CCAGTACCCGGCTCTCCAGCC	0.667000														94			19		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241713053	241713053	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241713053A>C	uc009xgp.3	+	2	512	c.201A>C	c.(199-201)aaA>aaC	p.K67N	KMO_uc001hyy.3_Missense_Mutation_p.K107N|KMO_uc009xgo.2_Missense_Mutation_p.K107N	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	67					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGCCTTGAAAGCTGTTGGCC	0.418000														122			48		0	0	1	0	0
PIK3R5	23533	broad.mit.edu	37	17	8791855	8791855	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8791855G>A	uc002glt.3	-	9	1316	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	PIK3R5_uc010vuz.2_Missense_Mutation_p.P417S|PIK3R5_uc021tqc.1_Missense_Mutation_p.P31S|PIK3R5_uc010cob.2_Missense_Mutation_p.P31S|PIK3R5_uc010coa.2_Missense_Mutation_p.P31S|PIK3R5_uc002glu.4_Missense_Mutation_p.P31S	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	417					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TTCTGCCCAGGCCTGCGGTGG	0.637000														49			15		0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78477491	78477491	+	Nonsense_Mutation	SNP	G	A	A	rs104894391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:78477491G>A	uc001vkp.1	-	3	1024	c.871C>T	c.(871-873)Cga>Tga	p.R291*	EDNRB_uc001vkq.1_Nonsense_Mutation_p.R201*|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Nonsense_Mutation_p.R201*|EDNRB_uc010aez.1_Nonsense_Mutation_p.R201*	NM_001201397	NP_001188326	P24530	EDNRB_HUMAN	Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA.	201					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCAACAGCTCGATATCTGAAG	0.343000														127			22		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111216	81111216	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111216G>A	uc001szg.2	+	0	509	c.374G>A	c.(373-375)aGg>aAg	p.R125K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	125	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAGATCCTCAGGAATGCCATC	0.597000														234			57		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525688	150525688	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150525688C>T	uc009wlw.3	+	3	551	c.393C>T	c.(391-393)caC>caT	p.H131H	ADAMTSL4_uc001euw.3_Silent_p.H131H|ADAMTSL4_uc001eux.3_Silent_p.H131H|ADAMTSL4_uc010pcg.2_Silent_p.H131H	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	131					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCGCTTCCCACCTAGGGAGAG	0.642000														143			29		0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39448080	39448080	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39448080T>G	uc003gua.3	+	3	1831	c.1734T>G	c.(1732-1734)gaT>gaG	p.D578E	KLB_uc011byj.2_Missense_Mutation_p.D569E	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	578	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AATGCACAGATTTTGTAAACA	0.512000														149			29		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24991146	24991146	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24991146C>T	uc002rfk.3	+	20	4471	c.4212C>T	c.(4210-4212)ggC>ggT	p.G1404G	NCOA1_uc010eye.3_3'UTR|NCOA1_uc002rfi.3_3'UTR|NCOA1_uc002rfj.3_3'UTR|NCOA1_uc002rfl.3_Silent_p.G1403G|NCOA1_uc010eyf.3_3'UTR	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1404								p.G1404G(2)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGTAGGCGGGGACCCTT	0.557000			T	PAX3	alveolar rhadomyosarcoma									193			38		0	0	1	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126345	32126345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32126345C>T	uc003jhp.1	-	3	1155	c.870G>A	c.(868-870)tgG>tgA	p.W290*		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	290					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.W290L(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						CCACCACCGCCCACAGAACCT	0.498000														197			36		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37416155	37416155	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37416155C>T	uc002ofc.3	+	3	648	c.130C>T	c.(130-132)Cct>Tct	p.P44S	ZNF568_uc010efg.3_Missense_Mutation_p.P44S|ZNF568_uc010xtn.2_5'UTR|ZNF568_uc021uts.1_Missense_Mutation_p.P44S|ZNF568_uc002ofd.3_5'UTR|ZNF568_uc010efe.3_Intron|ZNF568_uc010eff.2_Missense_Mutation_p.P30S	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACAACCAGGCCTCTTGTACG	0.403000														56			11		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275077	41275077	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275077A>C	uc010hia.1	+	9	1399	c.1243A>C	c.(1243-1245)Aat>Cat	p.N415H	CTNNB1_uc003ckq.2_Missense_Mutation_p.N415H|CTNNB1_uc003ckp.2_Missense_Mutation_p.N415H|CTNNB1_uc003ckr.2_Missense_Mutation_p.N415H|CTNNB1_uc011azf.1_Missense_Mutation_p.N408H|CTNNB1_uc011azg.1_Missense_Mutation_p.N343H|CTNNB1_uc003cks.3_Missense_Mutation_p.N18H|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	415					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGATGATATAAATGTGGTCAC	0.428000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					258			50		0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99474422	99474422	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99474422G>T	uc003usc.1	-	0	235	c.235C>A	c.(235-237)Ctg>Atg	p.L79M		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCATCTTCAGGATGATTGTG	0.478000														111			24		7.88262e-20	9.60081e-20	1	1	0
OR4K14	122740	broad.mit.edu	37	14	20483064	20483064	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20483064C>A	uc010tky.2	-	0	289	c.289G>T	c.(289-291)Gga>Tga	p.G97*		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCCATACATCCTCCAAAGGAG	0.488000														79			14		4.3838e-07	4.70703e-07	1	1	0
KSR1	8844	broad.mit.edu	37	17	25936261	25936261	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25936261G>T	uc010crg.3	+	16	2228	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	KSR1_uc002gzm.3_Missense_Mutation_p.D375Y|KSR1_uc002gzn.3_5'Flank	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	731					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.E595*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CGTACACAAAGATCTCAAATC	0.537000														118			23		2.89027e-11	3.28353e-11	1	1	0
BCAN	63827	broad.mit.edu	37	1	156618630	156618630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156618630G>A	uc001fpp.3	+	5	1376	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	BCAN_uc001fpo.3_Missense_Mutation_p.R347H	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	347	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACAGCCGCTTCAACGTC	0.572000														251			90		0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87744864	87744864	+	Missense_Mutation	SNP	G	A	A	rs141733244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87744864G>A	uc002fki.3	-	8	1123	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.2_Missense_Mutation_p.R160C|KLHDC4_uc002fkj.3_Missense_Mutation_p.R310C|KLHDC4_uc002fkl.3_Missense_Mutation_p.R284C|KLHDC4_uc010chu.1_Missense_Mutation_p.R160C	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	341										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TCAAACCAACGGTTCCTGGTG	0.587000														157			27		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14485348	14485348	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14485348T>G	uc003jff.3	+	46	6834	c.6828T>G	c.(6826-6828)ttT>ttG	p.F2276L	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.F1925L	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGCGCAATTTTTTAAATGGTA	0.383000														96			30		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677208	48677208	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48677208C>T	uc002irk.1	+	16	4050	c.3678C>T	c.(3676-3678)gaC>gaT	p.D1226D	CACNA1G_uc002iri.1_Silent_p.D1226D|CACNA1G_uc002irj.1_Silent_p.D1203D|CACNA1G_uc002irl.1_Silent_p.D1203D|CACNA1G_uc002irm.1_Silent_p.D1203D|CACNA1G_uc002irn.1_Silent_p.D1203D|CACNA1G_uc002iro.1_Silent_p.D1203D|CACNA1G_uc002irp.1_Silent_p.D1226D|CACNA1G_uc002irq.1_Silent_p.D1203D|CACNA1G_uc002irr.1_Silent_p.D1226D|CACNA1G_uc002irs.1_Silent_p.D1226D|CACNA1G_uc002irt.1_Silent_p.D1226D|CACNA1G_uc002iru.1_Silent_p.D1203D|CACNA1G_uc002irv.1_Silent_p.D1226D|CACNA1G_uc002irw.1_Silent_p.D1203D|CACNA1G_uc002irx.1_Silent_p.D1139D|CACNA1G_uc002iry.1_Silent_p.D1139D|CACNA1G_uc002isg.1_Silent_p.D1139D|CACNA1G_uc002ish.1_Silent_p.D1139D|CACNA1G_uc002isi.1_Silent_p.D1116D|CACNA1G_uc002irz.1_Silent_p.D1139D|CACNA1G_uc002isa.1_Silent_p.D1139D|CACNA1G_uc002isd.1_Silent_p.D1139D|CACNA1G_uc002isb.1_Silent_p.D1139D|CACNA1G_uc002isc.1_Silent_p.D1139D|CACNA1G_uc002ise.1_Silent_p.D1139D|CACNA1G_uc002isf.1_Silent_p.D1139D|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1226					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACGCCGATGACGAGGGCAACC	0.652000														59			6		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116617112	116617112	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116617112C>T	uc003yny.3	-	3	1662	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	TRPS1_uc011lhy.2_Missense_Mutation_p.E353K|TRPS1_uc003ynz.3_Missense_Mutation_p.E349K|TRPS1_uc010mcy.3_Missense_Mutation_p.E349K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	349					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E349K(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGTTCTAATTCGGTGGATGAG	0.408000									Langer-Giedion syndrome					104			25		0	0	1	0	0
ST13	6767	broad.mit.edu	37	22	41252472	41252472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41252472T>C	uc003aze.3	-	0	216	c.73A>G	c.(73-75)Acc>Gcc	p.T25A	XPNPEP3_uc011aox.2_5'Flank|XPNPEP3_uc003azh.3_5'Flank|XPNPEP3_uc003azi.3_5'Flank|ST13_uc011aow.2_Missense_Mutation_p.T25A|XPNPEP3_uc003azf.2_5'Flank|XPNPEP3_uc003azg.2_5'Flank	NM_003932	NP_003923	P50502	F10A1_HUMAN	Homo sapiens suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) (ST13), mRNA.	25							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						ATTTCCTCGGTGTGCAGAACG	0.642000														209			43		0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965137	48965137	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965137C>T	uc002pje.1	+	1	561	c.156C>T	c.(154-156)ttC>ttT	p.F52F	KCNJ14_uc002pjf.1_Silent_p.F52F	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	52						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GCGGTCGCTTCGTCAAGAAAG	0.706000														31			9		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179631200	179631200	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179631200C>T	uc021vsy.1	-	40	9836	c.9611G>A	c.(9610-9612)cGa>cAa	p.R3204Q	TTN_uc021vsz.1_Missense_Mutation_p.R3158Q|TTN_uc021vta.1_Missense_Mutation_p.R3158Q|TTN_uc021vtb.1_Missense_Mutation_p.R3158Q|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.R3204Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3204							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)			GATAAACATTCGGTGGATTCT	0.418000														146			21		0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40257177	40257177	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40257177C>T	uc002hyw.3	-	9	1483	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.Q413Q	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	420	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACTTCTTGCTGGTCCCTCT	0.587000														44			8		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939172	67939172	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67939172G>A	uc001onm.1	-	6	914	c.658C>T	c.(658-660)Cga>Tga	p.R220*	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Nonsense_Mutation_p.R48*|SUV420H1_uc009ysf.2_Intron|SUV420H1_uc001ono.1_Nonsense_Mutation_p.R220*|SUV420H1_uc010rqa.1_Nonsense_Mutation_p.R197*	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	220	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTGTCATTTCGTTTCCTATTT	0.299000														73			11		0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133654654	133654654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133654654G>A	uc003eqa.4	-	12	2052	c.1778C>T	c.(1777-1779)gCc>gTc	p.A593V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	593					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTAGGCGCAGGCCCCTCGCCT	0.597000														68			13		0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113102908	113102908	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113102908G>T	uc021qqp.1	+	11	1701	c.1329G>T	c.(1327-1329)caG>caT	p.Q443H	NCAM1_uc001pnp.3_Missense_Mutation_p.Q407H|NCAM1_uc021qqo.1_Missense_Mutation_p.Q407H|NCAM1_uc001pnq.3_Missense_Mutation_p.Q417H|NCAM1_uc001pnr.3_Missense_Mutation_p.Q407H	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	419	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAAAGCTACAGGGCCCTGTGG	0.537000														70			10		0.000673444	0.000690401	1	1	0
MACROD2	140733	broad.mit.edu	37	20	16021894	16021894	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16021894G>T	uc002wou.3	+	15	1466	c.1202G>T	c.(1201-1203)aGt>aTt	p.S401I	MACROD2_uc002wot.3_Missense_Mutation_p.S401I|MACROD2_uc002woz.3_Missense_Mutation_p.S166I|MACROD2_uc002wpb.3_Missense_Mutation_p.S166I|MACROD2_uc002wpd.3_Missense_Mutation_p.S52I	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	401										breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GAAGGCTCCAGTGACCTAGAA	0.448000														48			9		0.000274275	0.000282808	1	1	0
DST	667	broad.mit.edu	37	6	56535563	56535563	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56535563C>T	uc021zay.1	-	6	703	c.577G>A	c.(577-579)Gca>Aca	p.A193T	DST_uc011dxl.1_Missense_Mutation_p.A182T|DST_uc021zaz.1_Missense_Mutation_p.A153T|DST_uc003pde.2_Missense_Mutation_p.A269T	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	153	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCTTTTGCAGACATATCC	0.403000														23			5		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163241	159163241	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163241T>G	uc001ftl.2	+	3	590	c.411T>G	c.(409-411)ggT>ggG	p.G137G	CADM3_uc009wsx.1_Silent_p.G171G|CADM3_uc009wsy.1_Silent_p.G137G|CADM3_uc001ftk.2_Silent_p.G171G	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	137	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCATCACTGGTTATAAATCTT	0.542000														153			13		0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20635250	20635250	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20635250G>A	uc001umr.3	+	17	3095	c.2797G>A	c.(2797-2799)Gca>Aca	p.A933T	ZMYM2_uc001ums.3_Missense_Mutation_p.A933T|ZMYM2_uc021rgy.1_Missense_Mutation_p.A933T|ZMYM2_uc001umt.3_Missense_Mutation_p.A933T|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Missense_Mutation_p.A313T|ZMYM2_uc001umw.3_Missense_Mutation_p.A386T	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GATTCCTGCAGCAATTGAGGA	0.408000														25			7		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116340022	116340022	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116340022C>A	uc003vij.3	+	1	1071	c.884C>A	c.(883-885)cCt>cAt	p.P295H	MET_uc022akk.1_Missense_Mutation_p.P295H|MET_uc010lkh.3_Missense_Mutation_p.P295H|MET_uc011knc.1_Missense_Mutation_p.P295H|MET_uc011knd.2_Missense_Mutation_p.P295H|MET_uc011knf.2_Missense_Mutation_p.P295H|MET_uc011kne.2_Missense_Mutation_p.P295H|MET_uc011kng.1_Missense_Mutation_p.P295H|MET_uc011knh.1_Missense_Mutation_p.P295H|MET_uc011kni.2_Missense_Mutation_p.P295H|MET_uc003vii.1_Missense_Mutation_p.P314H|MET_uc010lkg.3_Missense_Mutation_p.P295H|MET_uc011kmz.1_Missense_Mutation_p.P295H|MET_uc011kna.1_Missense_Mutation_p.P295H|MET_uc011knb.1_Missense_Mutation_p.P295H	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	295	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ATGGAAATGCCTCTGGAGTGT	0.428000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					130			30		2.65835e-16	3.16856e-16	1	1	0
KIAA0020	9933	broad.mit.edu	37	9	2811514	2811514	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2811514C>T	uc003zhp.1	-	14	1578	c.1482G>A	c.(1480-1482)ctG>ctA	p.L494L	KIAA0020_uc003zhq.1_Silent_p.L493L	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	494	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTGTTCTTGCAGGTAGCTTA	0.483000														185			52		0	0	1	0	0
ZNF793	390927	broad.mit.edu	37	19	38028593	38028593	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028593G>A	uc010efm.3	+	7	1475	c.1033G>A	c.(1033-1035)Gga>Aga	p.G345R	ZNF793_uc010xts.2_Missense_Mutation_p.G345R	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGAGAATGTGGAAAATCCTT	0.448000														48			8		0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19612635	19612635	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:19612635T>G	uc003jgd.3	-	5	1253	c.719A>C	c.(718-720)gAc>gCc	p.D240A	CDH18_uc011cnm.2_Missense_Mutation_p.D240A|CDH18_uc003jgc.3_Missense_Mutation_p.D240A|CDH18_uc021xwu.1_Missense_Mutation_p.D240A	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	240	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCAGCCATGTCTTTGGCTTG	0.418000														71			20		0	0	1	0	0
ZFAND4	93550	broad.mit.edu	37	10	46121762	46121762	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46121762C>T	uc001jcp.4	-	6	1751	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	ZFAND4_uc001jcl.4_Silent_p.Q23Q|ZFAND4_uc001jcm.4_Silent_p.Q503Q|ZFAND4_uc009xmu.3_Silent_p.Q429Q|ZFAND4_uc001jcn.4_Silent_p.Q429Q|ZFAND4_uc001jco.4_Intron	NM_001128324	NP_777550	Q86XD8	ANUB1_HUMAN	Homo sapiens zinc finger, AN1-type domain 4 (ZFAND4), transcript variant 2, mRNA.	503							zinc ion binding										AAGAAGAAGGCTGTAGCTTCC	0.413000														110			31		0	0	1	0	0
CD1E	913	broad.mit.edu	37	1	158325793	158325793	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158325793T>C	uc001fse.3	+	3	1095	c.802T>C	c.(802-804)Tat>Cat	p.Y268H	CD1E_uc010pid.2_Missense_Mutation_p.Y266H|CD1E_uc010pie.2_Missense_Mutation_p.Y169H|CD1E_uc001fsh.3_Missense_Mutation_p.Y79H|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Missense_Mutation_p.Y268H|CD1E_uc001fsg.3_Splice_Site_p.W78_splice|CD1E_uc009wsv.3_Missense_Mutation_p.Y169H|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Missense_Mutation_p.Y178H|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Splice_Site_p.W267_splice|CD1E_uc001frz.3_Missense_Mutation_p.Y178H|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Missense_Mutation_p.Y79H|CD1E_uc021pbm.1_Splice_Site|CD1E_uc009wsw.3_Missense_Mutation_p.Y26H	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	268	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CGAGACATGGTATCTCCGAGC	0.602000														252			16		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61644341	61644341	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61644341A>T	uc001nsm.3	-	7	1133	c.980T>A	c.(979-981)gTc>gAc	p.V327D		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	327					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water	p.A326V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GCCATACCTGACAGCAACAAA	0.612000														22			6		0	0	1	0	0
GATAD2A	54815	broad.mit.edu	37	19	19613287	19613287	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19613287G>A	uc010xqt.2	+	10	2035	c.1723G>A	c.(1723-1725)Ggc>Agc	p.G575S	GATAD2A_uc010xqu.2_Missense_Mutation_p.G204S|GATAD2A_uc010xqv.2_Missense_Mutation_p.G595S|GATAD2A_uc010xqw.2_Missense_Mutation_p.G378S	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	575					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						CGTGAGCGCCGGCAAGGGCAG	0.642000														226			55		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27730853	27730853	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27730853C>G	uc002rky.3	+	14	1316	c.1250C>G	c.(1249-1251)aCg>aGg	p.T417R	GCKR_uc010ezd.3_Missense_Mutation_p.T415R|GCKR_uc010ylu.2_Missense_Mutation_p.T227R	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	417	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GACAACCTCACGGAGGTGCAG	0.587000														76			17		0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738730	41738730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41738730G>A	uc003orc.1	-	6	1350	c.1106C>T	c.(1105-1107)cCa>cTa	p.P369L		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	369					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGCAGTGGGGTCTCGTC	0.667000														231			48		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603992	52603992	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603992T>C	uc001vgb.3	+	1	1614	c.1052T>C	c.(1051-1053)gTg>gCg	p.V351A	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.V351A	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	351					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		GGCACAGAAGTGGAAGAACTC	0.522000														116			30		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227286	56227286	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227286C>A	uc002xyq.3	-	3	1080	c.687G>T	c.(685-687)ccG>ccT	p.P229P	PMEPA1_uc002xyr.3_Silent_p.P179P|PMEPA1_uc002xys.3_Silent_p.P194P|PMEPA1_uc002xyt.3_Silent_p.P179P	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	229					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						TGTAGGTGGGCGGCGGCCCCT	0.716000														58			16		2.31682e-05	2.42268e-05	1	1	0
MCEE	84693	broad.mit.edu	37	2	71351596	71351596	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71351596C>A	uc002shs.2	-	1	163	c.118G>T	c.(118-120)Ggt>Tgt	p.G40C		NM_032601	NP_115990	Q96PE7	MCEE_HUMAN	Homo sapiens methylmalonyl CoA epimerase (MCEE), mRNA.	40					L-methylmalonyl-CoA metabolic process|fatty acid beta-oxidation	mitochondrial matrix	methylmalonyl-CoA epimerase activity			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						CACACAGAACCTGTCACTTGA	0.468000														212			57		5.10508e-28	6.40477e-28	1	1	0
DCT	1638	broad.mit.edu	37	13	95131483	95131483	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95131483C>T	uc010afh.3	-	0	454	c.27G>A	c.(25-27)ctG>ctA	p.L9L	DCT_uc001vlv.4_Silent_p.L9L	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	9					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCAACTGAGCAGAAACCCCC	0.527000														60			10		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80788752	80788752	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80788752G>T	uc002kga.3	-	3	1748	c.1437_splice	c.e3-1	p.S479_splice	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	479						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACAACATTGAGGCTAGAAGAA	0.572000														125			39		1.90571e-15	2.25613e-15	1	1	0
GLDC	2731	broad.mit.edu	37	9	6645328	6645328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6645328G>A	uc003zkc.3	-	0	365	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	58					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCGTGTCTGGGCAGAAGGCGC	0.721000														15			4		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10258614	10258614	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10258614C>T	uc003jeq.3	+	5	1011	c.840C>T	c.(838-840)taC>taT	p.Y280Y	CCT5_uc011cmq.2_Silent_p.Y127Y|CCT5_uc011cmr.2_Silent_p.Y225Y|CCT5_uc011cms.2_Silent_p.Y242Y|CCT5_uc011cmt.2_Silent_p.Y187Y	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	280					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TTCAGAAATACGAAAAGGAGA	0.383000														114			22		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308961	248308961	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308961C>A	uc010pze.2	+	0	512	c.512C>A	c.(511-513)tCt>tAt	p.S171Y		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TACTGTGGGTCTCGGGAAATA	0.438000														495			70		1.49723e-40	1.90345e-40	1	1	0
PDE8A	5151	broad.mit.edu	37	15	85658679	85658679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85658679C>T	uc002blh.3	+	14	1549	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	PDE8A_uc021stv.1_Nonsense_Mutation_p.R382*|PDE8A_uc002bli.3_Nonsense_Mutation_p.R408*|PDE8A_uc010bnc.3_Nonsense_Mutation_p.R207*|PDE8A_uc010bnd.3_Nonsense_Mutation_p.R207*|PDE8A_uc002blj.3_Nonsense_Mutation_p.R74*|PDE8A_uc002blk.3_Nonsense_Mutation_p.R74*	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	454					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GGATGGTTTGCGAAGACTATC	0.358000														37			4		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379823	220379823	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379823C>T	uc002vlz.3	+	0	932	c.758C>T	c.(757-759)tCg>tTg	p.S253L	ASIC4_uc010fwi.2_Missense_Mutation_p.S253L|ASIC4_uc010fwj.2_Missense_Mutation_p.S253L|ASIC4_uc002vly.2_Missense_Mutation_p.S253L|ASIC4_uc002vma.3_Missense_Mutation_p.S253L|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	253						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										TTCCGGCATTCGGCACTCAGC	0.672000														122			51		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21105625	21105625	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21105625C>T	uc002zsz.4	-	26	3196	c.2935G>A	c.(2935-2937)Gcc>Acc	p.A979T		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	979					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGGTAGGGGGCGTCGGGGATG	0.552000														77			13		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764883	77764883	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764883C>A	uc003yau.2	+	9	6113	c.5726C>A	c.(5725-5727)gCc>gAc	p.A1909D	ZFHX4_uc003yaw.1_Missense_Mutation_p.A1864D	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1864						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAAATGCTGCCAAAGCGTTA	0.458000										HNSCC(33;0.089)				27			8		0.000157383	0.000162836	1	1	0
TRHR	7201	broad.mit.edu	37	8	110100072	110100072	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110100072G>T	uc003ymz.4	+	0	420	c.331G>T	c.(331-333)Gca>Tca	p.A111S		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	111						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGGAATTAATGCATCCTCTTG	0.453000														148			9		0.000274275	0.000282808	1	1	0
SEC31A	22872	broad.mit.edu	37	4	83793168	83793168	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793168C>T	uc003hnh.3	-	6	891	c.711G>A	c.(709-711)cgG>cgA	p.R237R	SEC31A_uc003hne.3_5'Flank|SEC31A_uc011ccl.2_Silent_p.R237R|SEC31A_uc003hnl.3_Silent_p.R237R|SEC31A_uc003hng.3_Silent_p.R237R|SEC31A_uc011ccm.2_Silent_p.R232R|SEC31A_uc003hni.3_Silent_p.R237R|SEC31A_uc003hnk.3_Silent_p.R237R|SEC31A_uc003hnf.3_Silent_p.R237R|SEC31A_uc011ccn.2_Silent_p.R237R|SEC31A_uc003hnm.3_Silent_p.R237R|SEC31A_uc003hnn.2_Silent_p.R237R|SEC31A_uc003hno.3_Silent_p.R237R	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	237	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCACTGGTAACCGGTCATCCT	0.473000														69			17		0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160187443	160187443	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160187443C>A	uc001fvo.2	-	13	2045	c.1733G>T	c.(1732-1734)aGc>aTc	p.S578I	DCAF8_uc001fvn.2_Missense_Mutation_p.S578I|DCAF8_uc009wth.2_Missense_Mutation_p.S578I|DCAF8_uc010pjb.1_Missense_Mutation_p.S578I|DCAF8_uc010pjc.1_Missense_Mutation_p.S732I	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	578						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GTCTGAGGAGCTGGGAGACTC	0.612000														135			34		5.91797e-21	7.2477e-21	1	1	0
CSF3R	1441	broad.mit.edu	37	1	36939383	36939383	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36939383A>G	uc001caw.2	-	4	1051	c.467T>C	c.(466-468)tTc>tCc	p.F156S	CSF3R_uc001cav.2_Missense_Mutation_p.F156S|CSF3R_uc001cax.2_Missense_Mutation_p.F156S	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	156	Fibronectin type-III 1.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTCAGAGTGAAGCTGGTGGG	0.602000														108			25		0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40714637	40714637	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40714637C>T	uc010cyj.3	+	2	286	c.84C>T	c.(82-84)ggC>ggT	p.G28G	COASY_uc002hzz.3_5'UTR|COASY_uc002iab.3_Intron|COASY_uc002iad.3_5'UTR|COASY_uc002iac.3_5'UTR|COASY_uc002iae.3_5'Flank	NM_001042532	NP_079509	Q13057	COASY_HUMAN	Homo sapiens CoA synthase (COASY), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	0					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CAGGCCTGGGCAGCATGGCCG	0.701000														126			36		0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483459	59483459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59483459C>T	uc002lih.1	-	1	650	c.238G>A	c.(238-240)Gcc>Acc	p.A80T	RNF152_uc021ula.1_Missense_Mutation_p.A80T	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	80					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	p.I79I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGTGGAATGGCGATGACAGCC	0.637000														151			24		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961295	34961295	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961295C>T	uc004ddi.2	+	0	383	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	116								p.A116A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCACGGAAGGCGTTCGTAGAG	0.542000														140			37		0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34957800	34957800	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34957800A>G	uc002nvk.3	+	15	1692	c.1622A>G	c.(1621-1623)gAc>gGc	p.D541G	UBA2_uc002nvl.3_Missense_Mutation_p.D445G	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	541					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity	p.D541V(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CTAGGAAAGGACGTTGAATTT	0.458000														56			11		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48026622	48026622	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48026622A>C	uc002rwd.4	+	3	1652	c.1500A>C	c.(1498-1500)gcA>gcC	p.A500A	MSH6_uc002rwc.2_Silent_p.A500A|MSH6_uc010fbj.3_Silent_p.A198A|MSH6_uc010yoj.2_Silent_p.A198A	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	500					DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAAGATGGCACATATATCCA	0.473000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					66			17		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35154346	35154346	+	Silent	SNP	C	T	T	rs147941086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35154346C>T	uc002xff.3	+	11	3123	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	DLGAP4_uc010zvp.2_Silent_p.F896F|DLGAP4_uc002xfg.3_Silent_p.F192F|DLGAP4_uc002xfh.3_Silent_p.F360F|DLGAP4_uc002xfi.3_Silent_p.F205F|DLGAP4_uc002xfj.3_Silent_p.F192F|BC039668_uc002xfk.3_Intron	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	899					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCATGAAGTTCGATGAACTCT	0.607000														205			60		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150298269	150298269	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150298269C>T	uc001eum.4	+	2	368	c.206C>T	c.(205-207)gCt>gTt	p.A69V	PRPF3_uc009wlo.3_Missense_Mutation_p.A69V|PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Missense_Mutation_p.A28V|PRPF3_uc010pcb.2_Missense_Mutation_p.A69V	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	69	PWI.				nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		CTGTTTGAGGCTGTGGAGGAA	0.458000														247			50		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114814	145114814	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114814G>T	uc003zar.3	-	1	204	c.122C>A	c.(121-123)gCc>gAc	p.A41D	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	41							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGCATAGTTGGCAGGGTCCTC	0.657000														133			27		1.2476e-16	1.49007e-16	1	1	0
IFT80	57560	broad.mit.edu	37	3	160073820	160073820	+	Missense_Mutation	SNP	C	T	T	rs144738877	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160073820C>T	uc021xgr.1	-	6	804	c.758G>A	c.(757-759)cGc>cAc	p.R253H	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.R116H|IFT80_uc021xgq.1_Missense_Mutation_p.R251H|IFT80_uc003fde.2_Missense_Mutation_p.R116H|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	253						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATCACACAAGCGTAAAGTATG	0.423000														128			19		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419603	53419603	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53419603G>A	uc001vhi.3	-	1	3000	c.2796C>T	c.(2794-2796)agC>agT	p.S932S	PCDH8_uc001vhj.3_Silent_p.S835S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	932					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GAGCGTCCCCGCTGATGTCGG	0.522000														140			8		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021716	51021716	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021716G>A	uc002pss.3	-	2	1391	c.1254C>T	c.(1252-1254)gaC>gaT	p.D418D		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	418	Ig-like C2-type.					cell junction|integral to membrane|presynaptic membrane		p.D418N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		TAAGCGTGCCGTCATGCAGGA	0.652000														135			21		0	0	1	0	0
OR4P4	81300	broad.mit.edu	37	11	55406127	55406127	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55406127A>C	uc010rij.2	+	0	294	c.294A>C	c.(292-294)caA>caC	p.Q98H		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GTATGATACAACTCTTTACCA	0.448000														134			42		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	347979	347979	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:347979G>A	uc002cgp.2	-	5	1916	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Silent_p.A509A	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	509	Interaction with RNF111.				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCCCCGAGGCGGCACCCCCCA	0.706000														56			10		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808659	8808659	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808659G>A	uc002mkl.2	-	0	514	c.393C>T	c.(391-393)caC>caT	p.H131H		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	131						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCTCCAGCAGGTGGCGCCAGA	0.697000														144			28		0	0	1	0	0
CCDC144C	348254	broad.mit.edu	37	17	20266241	20266241	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20266241C>T	uc010cqy.1	+	10		c.2443C>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						CTAGGTTGTGCAGGAGAGAAA	0.388000														91			19		0	0	1	0	0
C21orf7	56911	broad.mit.edu	37	21	30521531	30521531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30521531C>T	uc002ynf.3	+	6	669	c.392C>T	c.(391-393)tCc>tTc	p.S131F	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.S131F|C21orf7_uc010glo.3_5'UTR|C21orf7_uc002yng.3_Missense_Mutation_p.S31F|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	131						cytosol|nucleus	protein binding			ovary(2)|prostate(1)	3				Colorectal(56;0.248)		CCTGAAGACTCCATTCCTTTG	0.418000														140			23		0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322876	5322876	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5322876T>C	uc010qza.2	-	0	301	c.301A>G	c.(301-303)Att>Gtt	p.I101V	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F100L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGAATGAATGAAGGATTGG	0.493000														127			23		0	0	1	0	0
OPHN1	4983	broad.mit.edu	37	X	67283811	67283811	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67283811C>A	uc004dww.4	-	20	2337	c.2043G>T	c.(2041-2043)ggG>ggT	p.G681G	OPHN1_uc011mpg.2_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	681	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGATCTTGGTCCCTCCATCCT	0.612000														78			16		6.31663e-08	6.86475e-08	1	1	0
ABCA7	10347	broad.mit.edu	37	19	1043053	1043053	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1043053G>A	uc002lqw.4	+	7	824	c.593G>A	c.(592-594)cGc>cAc	p.R198H	ABCA7_uc010dsb.1_Missense_Mutation_p.R60H	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	198					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R198L(2)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCGCTGCGCAGCCTGGTG	0.667000														105			14		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6181169	6181169	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6181169C>T	uc001amb.2	-	32	5019	c.4908G>A	c.(4906-4908)ccG>ccA	p.P1636P	CHD5_uc001alz.2_Silent_p.P493P|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1636					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCAACCTCTCGGCAGCTGCT	0.652000														65			8		0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404198	20404198	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404198G>T	uc001vwj.2	+	0	432	c.373G>T	c.(373-375)Gcc>Tcc	p.A125S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CAGATTTATAGCCATATGTAA	0.438000														205			20		1.33834e-09	1.48855e-09	1	1	0
INO80D	54891	broad.mit.edu	37	2	206870181	206870181	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206870181G>A	uc002vaz.4	-	10	2400	c.1995C>T	c.(1993-1995)ctC>ctT	p.L665L		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	665					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						TCAGGCACTCGAGAGAAGTTA	0.542000														111			23		0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10774566	10774566	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10774566G>A	uc001qys.2	-	9	1494	c.973C>T	c.(973-975)Cca>Tca	p.P325S		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	325	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGATACGGTGGTGCTCCTGTC	0.423000										HNSCC(73;0.22)				109			36		0	0	1	0	0
TMEM97	27346	broad.mit.edu	37	17	26653722	26653722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26653722C>T	uc002hat.3	+	2	579	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_014573	NP_055388	Q5BJF2	TMM97_HUMAN	Homo sapiens transmembrane protein 97 (TMEM97), mRNA.	145					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ACCCTTGTGTCTGTCTATGCC	0.408000														66			19		0	0	1	0	0
RAD51AP1	10635	broad.mit.edu	37	12	4652985	4652985	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4652985G>T	uc001qmw.3	+	2	280	c.124G>T	c.(124-126)Gag>Tag	p.E42*	RAD51AP1_uc001qmu.3_Nonsense_Mutation_p.E42*|RAD51AP1_uc010sep.2_5'UTR|RAD51AP1_uc010seq.2_5'UTR	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	42					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			AGCACCAAAGGAGTTAAAACA	0.328000														46			11		2.27111e-07	2.44751e-07	1	1	0
WWOX	51741	broad.mit.edu	37	16	78149014	78149014	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:78149014C>T	uc002ffk.3	+	3	721	c.372C>T	c.(370-372)ggC>ggT	p.G124G	WWOX_uc002ffl.3_Silent_p.G124G|WWOX_uc010che.3_Silent_p.G124G|WWOX_uc010vnk.2_Silent_p.G11G|WWOX_uc002ffj.2_Silent_p.G124G	NM_016373	NP_057457	Q9NZC7	WWOX_HUMAN	Homo sapiens WW domain containing oxidoreductase (WWOX), transcript variant 1, mRNA.	124					Wnt receptor signaling pathway|apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATTTCACTGGCAAAGTGGTTG	0.478000														139			51		0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2964855	2964855	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2964855C>T	uc003ggj.1	-	0	264	c.192G>A	c.(190-192)agG>agA	p.R64R	GRK4_uc003ggn.1_5'Flank|GRK4_uc003ggo.1_5'Flank|GRK4_uc003ggp.1_5'Flank|GRK4_uc003ggq.1_5'Flank|NOP14_uc003ggl.3_Silent_p.R64R|NOP14_uc010icq.1_Non-coding_Transcript|GRK4_uc003ggm.3_5'Flank	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	64					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CGCTTACCTTCCTGAGGGCCC	0.672000														165			38		0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41437686	41437686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41437686G>A	uc004dfk.4	-	9	981	c.855C>T	c.(853-855)ggC>ggT	p.G285G	CASK_uc004dfj.4_Silent_p.G33G|CASK_uc004dfl.4_Silent_p.G470G|CASK_uc004dfm.4_Silent_p.G470G|CASK_uc004dfn.4_Silent_p.G464G	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	470					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTGGAGAATCGCCGTTTAAAT	0.463000														64			7		0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160851893	160851893	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160851893C>T	uc001fxc.3	-	3	375	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	87	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTCATTCTCGTGCACGCTG	0.597000														158			60		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45636216	45636216	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45636216G>C	uc001wwd.4	+	10	1951	c.1852G>C	c.(1852-1854)Gtc>Ctc	p.V618L	FANCM_uc001wwc.2_Missense_Mutation_p.V618L|FANCM_uc010anf.3_Missense_Mutation_p.V592L|FANCM_uc001wwe.4_Missense_Mutation_p.V154L	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	618	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TAACAGGCAGGTCCTTCATTT	0.328000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					167			26		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155444	155444	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155444C>A	uc003fzw.4	+	1	897	c.308C>A	c.(307-309)cCt>cAt	p.P103H	ZNF718_uc003fzt.4_Silent_p.S323S|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTACCACATCCTCAGACTTTG	0.398000														35			6		0.217242	0.217542	1	1	0
KIAA0226	9711	broad.mit.edu	37	3	197431564	197431564	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197431564G>A	uc003fyc.2	-	3	495	c.312C>T	c.(310-312)agC>agT	p.S104S	KIAA0226_uc003fyd.3_Silent_p.S44S|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.S97S	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	104	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGCACGCTGATGAACT	0.542000														116			7		0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24190912	24190912	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24190912C>T	uc011mjv.2	+	2	302	c.53C>T	c.(52-54)gCa>gTa	p.A18V	ZFX_uc004dbd.2_Missense_Mutation_p.A18V|ZFX_uc004dbf.3_Missense_Mutation_p.A18V|ZFX_uc004dbe.3_Missense_Mutation_p.A18V|ZFX_uc022bua.1_Missense_Mutation_p.A18V|ZFX_uc010nfx.2_Intron|ZFX_uc010nfy.1_Missense_Mutation_p.A18V	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTTTTTGATGCAACAGGTATA	0.383000														56			11		0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20009753	20009753	+	Missense_Mutation	SNP	G	A	A	rs144713907	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20009753G>A	uc001bcn.3	-	15	1927	c.1685C>T	c.(1684-1686)aCc>aTc	p.T562I	TMCO4_uc001bco.1_Intron|TMCO4_uc001bcp.1_Intron	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	562						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGGACCCTGGGTTTGCCCAAC	0.667000														153			44		0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128852143	128852143	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128852143C>T	uc003vor.3	+	11	2495	c.2215C>T	c.(2215-2217)Cca>Tca	p.P739S	SMO_uc003vos.3_3'UTR	NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	739					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCATTCTGCCCAGAGCCCAG	0.677000			Mis		skin basal cell									88			7		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27449826	27449826	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27449826C>T	uc002rji.3	+	14	2445	c.2283C>T	c.(2281-2283)agC>agT	p.S761S	CAD_uc010eyw.3_Silent_p.S698S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	761	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCATGAAGAGCGTTGGTGAGA	0.527000														178			34		0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247081580	247081580	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247081580T>A	uc001ibv.2	-	1	217	c.120A>T	c.(118-120)gaA>gaT	p.E40D		NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	31	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GAAGCACAGATTCTAATGTTA	0.358000														63			7		0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939224	76939224	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:76939224G>A	uc004ecp.4	-	8	1756	c.1524C>T	c.(1522-1524)aaC>aaT	p.N508N	ATRX_uc004ecq.4_Silent_p.N470N|ATRX_uc004eco.4_Silent_p.N293N|ATRX_uc004ecr.2_Silent_p.N469N|ATRX_uc010nlx.1_Silent_p.N508N|ATRX_uc010nly.1_Silent_p.N453N	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	508					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCAGAAGTGTTGGCAGGTT	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							331			93		0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257476	41257476	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41257476C>T	uc003azj.3	-	0	655	c.523G>A	c.(523-525)Gct>Act	p.A175T	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	175					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						TTATCAAAAGCCAGGGAAGAG	0.338000														101			33		0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125853983	125853983	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125853983G>A	uc009zbw.3	-	15	2907	c.2779C>T	c.(2779-2781)Cgt>Tgt	p.R927C	CDON_uc001qdb.4_Missense_Mutation_p.R304C|CDON_uc001qdc.4_Missense_Mutation_p.R927C	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	927					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CCAGGAACACGTTTCACTAGT	0.453000														58			13		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076509	134076509	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134076509G>A	uc001qhd.1	-	7	1607	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	334					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AAACTGGACCGCCTGGTTTCT	0.458000														151			34		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42266957	42266957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42266957G>A	uc003bbi.3	+	3	954	c.785G>A	c.(784-786)gGc>gAc	p.G262D	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	262	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAGACAGATGGCAGCCCTGTT	0.537000														301			72		0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175921013	175921013	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175921013C>A	uc003mej.4	+	5	550	c.497C>A	c.(496-498)gCc>gAc	p.A166D		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	166					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CTTAACGATGCCAAAAGGGAG	0.403000														95			47		6.03219e-31	7.60257e-31	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91873534	91873534	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91873534G>A	uc004efk.2	+	6	4484	c.3639G>A	c.(3637-3639)ccG>ccA	p.P1213P	PCDH11X_uc004efl.2_Silent_p.P1203P|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.P1205P|PCDH11X_uc004efn.2_Silent_p.P1195P|PCDH11X_uc004efo.2_Silent_p.P1176P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1213					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P1213T(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCCACCACCGATACAGGTGT	0.597000														232			62		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21236120	21236120	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21236120G>A	uc002red.3	-	24	4256	c.4128C>T	c.(4126-4128)ggC>ggT	p.G1376G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1376					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTGGTGTTGCCACCACTGT	0.517000														245			86		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365484	37365484	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37365484C>A	uc010ynh.2	-	7	1173	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	EIF2AK2_uc010fab.2_Missense_Mutation_p.G206C|EIF2AK2_uc010yng.2_Missense_Mutation_p.G206C|EIF2AK2_uc010fac.3_Missense_Mutation_p.G206C|EIF2AK2_uc010fad.2_Missense_Mutation_p.G206C	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	206					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAGAAGTCACCTTCAGATGAT	0.343000														55			16		2.32078e-09	2.57599e-09	1	1	0
GPLD1	2822	broad.mit.edu	37	6	24429337	24429337	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24429337C>T	uc003ned.1	-	24	2557	c.2446G>A	c.(2446-2448)Gtc>Atc	p.V816I		NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	816						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						GCAGCAATGACGACTTGGTTC	0.468000														58			10		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4104554	4104554	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4104554G>A	uc021qco.1	+	9	1868	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	STIM1_uc001lyv.2_Missense_Mutation_p.E434K|STIM1_uc009yef.2_Missense_Mutation_p.E434K|STIM1_uc009yeg.2_Missense_Mutation_p.E261K	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	434					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GCAACAGATCGAGATCCTCTG	0.582000														155			7		0	0	1	0	0
FOXB1	27023	broad.mit.edu	37	15	60297560	60297560	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60297560C>T	uc002agj.1	+	1	877	c.398C>T	c.(397-399)gCc>gTc	p.A133V	FOXB1_uc010bgh.1_Intron|FOXB1_uc021sna.1_Missense_Mutation_p.A133V	NM_012182	NP_036314	Q99853	FOXB1_HUMAN	Homo sapiens forkhead box B1 (FOXB1), mRNA.	133					axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning	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			central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)	6						CAGCAGCAGGCCAAGCTGCGG	0.721000														65			16		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511392	61511392	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61511392G>A	uc002ydr.2	-	15	6228	c.5916C>T	c.(5914-5916)gtC>gtT	p.V1972V	DIDO1_uc002yds.2_Silent_p.V1972V	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1972	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTGGTGAATGGACCCTCTGGT	0.562000														427			93		0	0	1	0	0
PPFIBP2	8495	broad.mit.edu	37	11	7654163	7654163	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7654163C>T	uc001mfj.4	+	11	1522	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	PPFIBP2_uc010rbb.1_Silent_p.T301T|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Silent_p.T301T|PPFIBP2_uc010rbd.1_Silent_p.T220T|PPFIBP2_uc010rbe.2_Silent_p.T266T|PPFIBP2_uc001mfl.4_Silent_p.T235T|PPFIBP2_uc009yfj.1_Silent_p.T22T	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	378					DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CACTGGAAACCAGGTAAGAGG	0.562000														47			8		0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230667001	230667001	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230667001C>A	uc002vpx.1	-	20	3201	c.3092G>T	c.(3091-3093)aGc>aTc	p.S1031I	TRIP12_uc021vxw.1_Missense_Mutation_p.S1016I|TRIP12_uc002vpy.1_Missense_Mutation_p.S713I|TRIP12_uc002vpw.1_Missense_Mutation_p.S983I|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	983					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATCATCCCTGCTGTGCTGCAA	0.488000														87			33		4.74835e-14	5.56603e-14	1	1	0
ACTC1	70	broad.mit.edu	37	15	35084354	35084354	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35084354C>A	uc001ziu.1	-	4	988	c.745G>T	c.(745-747)Gtc>Ttc	p.V249F	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	249					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATAGTGATGACTTGGCCATCA	0.532000														96			30		3.99451e-17	4.78557e-17	1	1	0
CADM1	23705	broad.mit.edu	37	11	115049448	115049448	+	Missense_Mutation	SNP	C	T	T	rs145171991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115049448C>T	uc001ppi.4	-	8	1255	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	CADM1_uc001ppf.4_Missense_Mutation_p.V348M|CADM1_uc001ppk.4_Missense_Mutation_p.V348M|CADM1_uc001ppj.4_Missense_Mutation_p.V377M|CADM1_uc001pph.4_Missense_Mutation_p.V139M	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	376					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCACCGATCACGGCATGATCC	0.512000														212			36		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654660	31654660	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31654660G>T	uc002ynv.3	-	0	617	c.591C>A	c.(589-591)agC>agA	p.S197R		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	197	6 X 10 AA repeats of Y-[ILR]-[SVPC]- [NRTS]-[SNTG]-X-[QHRP]-[PSY]-[QSL]-[SRK].					keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						GGGGTTGGCAGCTGTTGGAAA	0.423000														116			36		2.42023e-17	2.90129e-17	1	1	0
OR2J3	442186	broad.mit.edu	37	6	29079778	29079778	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29079778C>A	uc011dll.2	+	0	111	c.111C>A	c.(109-111)ttC>ttA	p.F37L		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTGATCTTCTACTTGATGA	0.403000														254			67		3.30712e-30	4.16372e-30	1	1	0
OPCML	4978	broad.mit.edu	37	11	132812857	132812857	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132812857T>C	uc010sck.2	-	0	181	c.131A>G	c.(130-132)aAc>aGc	p.N44S	OPCML_uc001qgu.3_Missense_Mutation_p.N37S|OPCML_uc001qgs.3_Missense_Mutation_p.N44S|OPCML_uc001qgt.3_Missense_Mutation_p.N44S|OPCML_uc010scl.2_Missense_Mutation_p.N3S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	44	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GACCGTCACGTTGTCCATAGC	0.662000														180			45		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104440202	104440202	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104440202C>T	uc004elz.1	+	2	884	c.128C>T	c.(127-129)gCt>gTt	p.A43V		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	43	Ig-like C2-type 1.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ACATACATGGCTTTGGCAGGT	0.458000														117			14		0	0	1	0	0
VCL	7414	broad.mit.edu	37	10	75863594	75863594	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75863594G>A	uc001jwd.3	+	14	2133	c.2039G>A	c.(2038-2040)cGt>cAt	p.R680H	VCL_uc009xrr.3_Missense_Mutation_p.R429H|VCL_uc010qky.1_Missense_Mutation_p.R587H|VCL_uc001jwe.3_Missense_Mutation_p.R680H|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	680	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					TCGGCTGCTCGTATCTTACTT	0.433000														122			29		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142675037	142675037	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142675037G>T	uc003lnd.3	-	6	3005	c.2011C>A	c.(2011-2013)Ctt>Att	p.L671I	NR3C1_uc003lmy.3_Missense_Mutation_p.L672I|NR3C1_uc003lmz.3_Missense_Mutation_p.L336I|NR3C1_uc003lna.3_Missense_Mutation_p.L671I|NR3C1_uc003lnb.3_Missense_Mutation_p.L671I|NR3C1_uc011dbk.2_Missense_Mutation_p.L274I|NR3C1_uc003lnf.3_Missense_Mutation_p.L672I|NR3C1_uc003lne.3_Missense_Mutation_p.L671I|NR3C1_uc003lnc.3_Missense_Mutation_p.L671I|NR3C1_uc021yfa.1_Intron|NR3C1_uc021yfb.1_Missense_Mutation_p.L671I	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	671	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GAAGAGAGAAGCAGTAAGGTT	0.363000														58			12		0.00010058	0.000104357	1	1	0
PSEN1	5663	broad.mit.edu	37	14	73673163	73673163	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73673163C>T	uc001xnr.3	+	8	1222	c.938C>T	c.(937-939)tCc>tTc	p.S313F	PSEN1_uc001xnv.3_Missense_Mutation_p.S309F|PSEN1_uc010ark.3_Missense_Mutation_p.S309F|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	313					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum	PDZ domain binding|aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		TCCAAAAATTCCAAGTATAAT	0.368000														61			13		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151155762	151155762	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151155762C>T	uc011bod.2	-	5	6587	c.6587G>A	c.(6586-6588)gGg>gAg	p.G2196E	IGSF10_uc011bob.2_Missense_Mutation_p.G223E|IGSF10_uc011boc.2_Missense_Mutation_p.G175E	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2196	Ig-like C2-type 8.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTCAAAGACCCATTGGCATG	0.438000														141			35		0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43917061	43917061	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43917061C>T	uc003tiw.3	-	5	2058	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.T624T|URGCP_uc003tiv.3_Silent_p.T592T|URGCP_uc003tix.3_Silent_p.T658T|URGCP_uc003tiy.3_Silent_p.T624T|URGCP_uc003tiz.3_Silent_p.T624T|URGCP_uc011kbj.2_Silent_p.T624T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCATGCTCAGCGTGCTCCCAT	0.657000														106			17		0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132862	126132862	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126132862G>A	uc004bnx.1	+	6	1622	c.1530G>A	c.(1528-1530)ccG>ccA	p.P510P	CRB2_uc004bnw.1_Silent_p.P510P	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	510	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						TGAGACTGCCGGACCTGGCCC	0.612000														171			36		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62290017	62290017	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290017C>T	uc002jed.3	-	1	1712	c.1561G>A	c.(1561-1563)Gct>Act	p.A521T	TEX2_uc002jec.3_Missense_Mutation_p.A521T|TEX2_uc002jee.3_Missense_Mutation_p.A521T	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	521					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TATTTATGAGCACTTGGTGGT	0.458000														199			57		0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45022235	45022235	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45022235G>A	uc010zxr.1	-	4	335	c.125C>T	c.(124-126)tCg>tTg	p.S42L	ELMO2_uc002xrt.1_Missense_Mutation_p.S42L|ELMO2_uc002xru.1_Missense_Mutation_p.S42L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.S42L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	42					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	SH3 domain binding|lyase activity|receptor tyrosine kinase binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTTGGCAACGACCACCTATG	0.453000														228			53		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118250	37118250	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37118250G>T	uc002oek.3	+	4	1564	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF382_uc010efa.3_Missense_Mutation_p.R435I|ZNF382_uc010efb.3_Missense_Mutation_p.R483I|ZNF382_uc002oel.3_Missense_Mutation_p.R483I	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	484	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCATCACAGAATACATACA	0.463000														63			12		1.08611e-07	1.17606e-07	1	1	0
PDE5A	8654	broad.mit.edu	37	4	120474867	120474867	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120474867C>T	uc003idh.3	-	7	1389	c.1234G>A	c.(1234-1236)Gct>Act	p.A412T	PDE5A_uc003idf.3_Missense_Mutation_p.A370T|PDE5A_uc003idg.3_Missense_Mutation_p.A360T	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	412	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ACATACTGAGCATACATGTAA	0.343000														73			15		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46009762	46009762	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46009762C>T	uc011bal.1	-	6	1176	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	FYCO1_uc003cpb.4_Missense_Mutation_p.R355Q	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	355					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAGTGAGTCCCGTGTGGCCTC	0.602000														229			54		0	0	1	0	0
ATF3	467	broad.mit.edu	37	1	212791502	212791502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212791502C>T	uc001hjf.3	+	2	428	c.274C>T	c.(274-276)Cga>Tga	p.R92*	ATF3_uc001hjj.3_Nonsense_Mutation_p.R92*|ATF3_uc021piu.1_Nonsense_Mutation_p.R35*|ATF3_uc001hji.3_Nonsense_Mutation_p.R92*|ATF3_uc021pit.1_Nonsense_Mutation_p.R35*|ATF3_uc001hjh.3_Nonsense_Mutation_p.R92*|ATF3_uc021piv.1_Nonsense_Mutation_p.R63*	NM_001030287	NP_001025458	P18847	ATF3_HUMAN	Homo sapiens activating transcription factor 3 (ATF3), transcript variant 3, mRNA.	92						nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)		GAAAAAGAGGCGACGAGAAAG	0.448000														142			15		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229661725	229661725	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229661725C>A	uc001htp.4	-	9	1907	c.1864G>T	c.(1864-1866)Ggg>Tgg	p.G622W		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	622	ABC transporter.			FIRNFPQG -> SPEFPPR (in Ref. 6; AAA84438).		integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				GTGTTGAACCCTTGGGGGAAA	0.478000														335			37		2.05212e-20	2.50602e-20	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620460	7620460	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620460G>T	uc003bqm.2	+	7	2141	c.1867G>T	c.(1867-1869)Gca>Tca	p.A623S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A623S|GRM7_uc003bql.2_Missense_Mutation_p.A623S|GRM7_uc003bqn.1_Missense_Mutation_p.A206S|GRM7_uc010hch.1_Missense_Mutation_p.A134S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	623					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.R622L(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CATTGTCCGGGCATCTGGGCG	0.502000														240			21		1.64113e-05	1.72175e-05	1	1	0
LZTS2	84445	broad.mit.edu	37	10	102763691	102763691	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102763691G>A	uc001ksj.3	+	2	1006	c.836G>A	c.(835-837)aGc>aAc	p.S279N	LZTS2_uc010qpw.2_Missense_Mutation_p.S279N|LZTS2_uc001ksk.3_Missense_Mutation_p.S279N|LZTS2_uc001ksl.3_Missense_Mutation_p.S279N|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	279	Required for centrosomal localization (By similarity).|Ser-rich.				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		TCCTCCTCCAGCAAGAGCACA	0.697000														162			46		0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56283999	56283999	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56283999G>A	uc003hax.2	+	3	906	c.639G>A	c.(637-639)ccG>ccA	p.P213P	TMEM165_uc011bzy.1_Silent_p.P150P	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	213						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAAATGGACCGGGAGATGTTG	0.333000														40			8		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75682033	75682033	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75682033G>T	uc002bai.3	-	15	3240	c.2981C>A	c.(2980-2982)gCc>gAc	p.A994D	SIN3A_uc002baj.3_Missense_Mutation_p.A994D|SIN3A_uc010uml.2_Missense_Mutation_p.A994D	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	994					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CATGGTAAAGGCAATGTAGGC	0.498000														136			32		3.99451e-17	4.78557e-17	1	1	0
IGSF1	3547	broad.mit.edu	37	X	130415855	130415855	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:130415855A>G	uc004ewe.4	-	7	1593	c.1310T>C	c.(1309-1311)aTc>aCc	p.I437T	IGSF1_uc004ewd.3_Missense_Mutation_p.I437T|IGSF1_uc022cdv.1_Missense_Mutation_p.I428T|IGSF1_uc004ewf.2_Missense_Mutation_p.I417T	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	437	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAAGGGTGATGGCCTTTCC	0.473000														91			25		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52429072	52429072	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52429072C>T	uc011bef.2	+	67	11226	c.10965C>T	c.(10963-10965)ccC>ccT	p.P3655P	DNAH1_uc003ddv.3_Silent_p.P513P	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3720					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCATTGAACCCCAGGCAAGTG	0.617000														26			5		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85691142	85691142	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85691142G>A	uc002fix.3	+	7	1646	c.1572G>A	c.(1570-1572)gaG>gaA	p.E524E	KIAA0182_uc002fiw.3_Silent_p.E420E|KIAA0182_uc002fiy.3_Silent_p.E451E	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	524							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						AGGTGCTGGAGCAGCACCTGG	0.687000														45			11		0	0	1	0	0
PARP11	57097	broad.mit.edu	37	12	3931121	3931121	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3931121G>T	uc001qmk.1	-	4	500	c.445C>A	c.(445-447)Ctc>Atc	p.L149I	PARP11_uc001qml.2_Missense_Mutation_p.L156I|PARP11_uc009zef.2_Non-coding_Transcript|PARP11_uc001qmm.2_Missense_Mutation_p.L75I|PARP11_uc001qmn.2_Missense_Mutation_p.L75I	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 11 (PARP11), mRNA.	149	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			TTCCCAAAGAGATTAGCAACT	0.353000														81			20		5.03518e-11	5.70985e-11	1	1	0
ABCA2	20	broad.mit.edu	37	9	139903317	139903317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903317G>A	uc004ckm.1	-	46	7071	c.7021C>T	c.(7021-7023)Cgg>Tgg	p.R2341W	ABCA2_uc022bpy.1_Missense_Mutation_p.R2242W|ABCA2_uc022bpz.1_Missense_Mutation_p.R2312W|ABCA2_uc011mem.1_Missense_Mutation_p.R2311W|ABCA2_uc004ckl.1_Missense_Mutation_p.R2242W|ABCA2_uc022bqa.1_5'UTR	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2311					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGTGGTGCCGCTCCTGCAGG	0.672000														46			14		0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284433	100284433	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284433C>T	uc003uwg.1	-	6	1542	c.533G>A	c.(532-534)gGc>gAc	p.G178D		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	178										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCTCAAAGCCACATCGTGC	0.647000														156			30		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213872294	213872294	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213872294G>T	uc002vem.3	-	7	1540	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	IKZF2_uc010fuu.3_Silent_p.I312I|IKZF2_uc002vej.3_Silent_p.I404I|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.I383I|IKZF2_uc002vel.3_Silent_p.I378I|IKZF2_uc010fuw.3_Silent_p.I231I|IKZF2_uc010fux.3_Silent_p.I231I|IKZF2_uc010fuy.3_Silent_p.I385I|IKZF2_uc002ven.3_Silent_p.I431I|IKZF2_uc002vei.3_Silent_p.I235I	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D456N(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AGACCTTGTAGATGTCCTTCA	0.473000														247			97		2.76863e-45	3.52784e-45	1	1	0
MAP2	4133	broad.mit.edu	37	2	210559824	210559824	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210559824C>T	uc002vde.1	+	6	3178	c.2930C>T	c.(2929-2931)gCc>gTc	p.A977V	MAP2_uc002vdc.1_Missense_Mutation_p.A977V|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A973V	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	977					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AAAGAACATGCCAAGAAAACT	0.393000														100			23		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603632	138603632	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603632C>T	uc011kql.2	-	1	789	c.740G>A	c.(739-741)gGc>gAc	p.G247D	KIAA1549_uc011kqj.2_Missense_Mutation_p.G247D	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	247						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAAATTCCTGCCAGGAGTTGG	0.512000			O	BRAF	pilocytic astrocytoma									144			25		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	T	T	rs149912828		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653805C>T	uc004cfe.3	+	18	2352	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	657	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGGACCTCCGGGAGACGAT	0.597000														129			13		0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42775003	42775003	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42775003C>T	uc003cly.4	-	10	1554	c.1470G>A	c.(1468-1470)ccG>ccA	p.P490P		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	490										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTGCTGAGGCCGGGGACTTGG	0.547000														401			88		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81627222	81627222	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81627222G>A	uc021xav.1	-	11	1754	c.1472C>T	c.(1471-1473)gCa>gTa	p.A491V	GBE1_uc021xax.1_Missense_Mutation_p.A450V	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	491					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CAACCAAAATGCCAGCGACTT	0.358000									Glycogen Storage Disease, type IV					17			5		0	0	1	0	0
HDAC4	9759	broad.mit.edu	37	2	240029793	240029793	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240029793T>C	uc002vyk.4	-	14	2842	c.2050A>G	c.(2050-2052)Agc>Ggc	p.S684G	HDAC4_uc010fyz.1_Missense_Mutation_p.S679G|HDAC4_uc010zoa.1_Missense_Mutation_p.S684G|HDAC4_uc010fza.2_Missense_Mutation_p.S689G|HDAC4_uc010fyy.3_Missense_Mutation_p.S641G|HDAC4_uc010znz.1_Missense_Mutation_p.S567G	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	684	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GACCAGATGCTCTGGATCCTC	0.682000														99			31		0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46264949	46264949	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46264949C>T	uc001jcu.3	+	19	2040	c.1922C>T	c.(1921-1923)tCt>tTt	p.S641F	FAM21C_uc001jcs.2_Missense_Mutation_p.S584F|FAM21C_uc010qfk.2_Missense_Mutation_p.S641F|FAM21C_uc010qfi.2_Missense_Mutation_p.S617F|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	641										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GACAGCAGGTCTAAAGGAGAA	0.463000														102			22		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95569987	95569987	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95569987T>G	uc001ydw.2	-	21	3958	c.3746A>C	c.(3745-3747)aAa>aCa	p.K1249T	DICER1_uc010avh.1_Missense_Mutation_p.K147T|DICER1_uc021sbc.1_Missense_Mutation_p.K1249T|DICER1_uc001ydv.2_Missense_Mutation_p.K1239T|DICER1_uc001ydx.2_Missense_Mutation_p.K1249T|DICER1_uc001ydy.1_Missense_Mutation_p.K101T|DICER1_uc021sbd.1_Missense_Mutation_p.K531T	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1249					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAGGTAGATTTGTTAGCATT	0.453000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					172			35		0	0	1	0	0
CAMSAP3	57662	broad.mit.edu	37	19	7671252	7671252	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7671252G>T	uc002mgu.4	+	2	599	c.498G>T	c.(496-498)gaG>gaT	p.E166D	CAMSAP3_uc002mgv.4_Missense_Mutation_p.E166D	NM_001080429	NP_001073898	Q9P1Y5	CAMP3_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 3 (CAMSAP3), transcript variant 1, mRNA.	166	CH.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCAGCTTGGAGCACAAGCTGC	0.627000														137			16		6.72482e-11	7.60803e-11	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226834905	226834905	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226834905C>T	uc010pvo.2	-	3	2549	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	737							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CAGGGCGAGTCGAAGTCGGCC	0.607000														165			18		0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67863822	67863822	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67863822C>T	uc002lkp.2	-	6	824	c.756G>A	c.(754-756)tcG>tcA	p.S252S	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Silent_p.S252S	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	252							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GGCAGGACACCGACTGTAATG	0.418000														95			16		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65682504	65682504	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65682504G>T	uc002aou.1	-	12	2607	c.2397C>A	c.(2395-2397)acC>acA	p.T799T	IGDCC4_uc002aot.1_Silent_p.T387T	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	799	Fibronectin type-III 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGTGTAATAGGTGACCAGGG	0.532000														118			17		2.23348e-06	2.37297e-06	1	1	0
ZNF702P	79986	broad.mit.edu	37	19	53472933	53472933	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53472933T>C	uc002qan.4	-	3		c.1568A>G								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		CCTTGCCACATTCATTACACT	0.333000														49			9		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124742334	124742334	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742334A>C	uc001qbc.3	+	7	1385	c.1216A>C	c.(1216-1218)Aga>Cga	p.R406R		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	406	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity	p.R406I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		AGTGTCTCCAAGAGGCCAACT	0.612000														110			29		0	0	1	0	0
GEMIN6	79833	broad.mit.edu	37	2	39008821	39008821	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39008821G>T	uc002rrc.3	+	2	476	c.291G>T	c.(289-291)gaG>gaT	p.E97D	GEMIN6_uc002rrb.3_Non-coding_Transcript	NM_024775	NP_079051	Q8WXD5	GEMI6_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6), mRNA.	97					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				ACAGCCCAGAGGATCTGGAAG	0.493000														115			6		0.0215528	0.0217347	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66460174	66460174	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66460174G>A	uc001ojd.3	-	24	5095	c.5023C>T	c.(5023-5025)Ctg>Ttg	p.L1675L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1675					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGGCATACAGCTTGTCCACC	0.637000														109			20		0	0	1	0	0
ZNF432	9668	broad.mit.edu	37	19	52550105	52550105	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52550105A>G	uc002pyk.3	-	2	333	c.15_splice	c.e2+1	p.Q5_splice		NM_014650	NP_055465	O94892	ZN432_HUMAN	Homo sapiens zinc finger protein 432 (ZNF432), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGAAAAAGTCACCTGGGCATT	0.363000														56			12		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29649590	29649590	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29649590G>A	uc001rix.1	-	1	82	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	28					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R28C(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGACCATGCGAATTCCACAC	0.428000														103			19		0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48695003	48695003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:48695003G>A	uc001crn.2	+	4	503	c.451G>A	c.(451-453)Gtc>Atc	p.V151I	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.V126I|SLC5A9_uc010omt.1_Missense_Mutation_p.V140I|SLC5A9_uc001crp.2_5'UTR|SLC5A9_uc010omu.1_5'UTR	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	126						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTGGGTCTTCGTCCCTGTGTA	0.582000														118			6		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239049856	239049856	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239049856C>A	uc002vxr.2	+	1	568	c.461C>A	c.(460-462)gCc>gAc	p.A154D		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	154	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGCCAAGGCCTGGGCCTTC	0.657000														86			18		2.39187e-15	2.82985e-15	1	1	0
CCDC88C	440193	broad.mit.edu	37	14	91763825	91763825	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91763825G>T	uc010aty.3	-	21	3944	c.3790C>A	c.(3790-3792)Ctg>Atg	p.L1264M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1264					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGGTGGTGCAGGAAATTGACC	0.587000														13			3		0.004672	0.00474578	1	1	0
DENND4A	10260	broad.mit.edu	37	15	66007885	66007885	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66007885G>T	uc002api.3	-	13	2269	c.1884C>A	c.(1882-1884)ttC>ttA	p.F628L	DENND4A_uc002aph.3_Missense_Mutation_p.F628L|DENND4A_uc002apj.3_Missense_Mutation_p.F628L|DENND4A_uc010ujj.1_Missense_Mutation_p.F628L	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	628	dDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R627H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						ATTCTTCAATGAAGCGAATAA	0.338000														22			6		0.00116845	0.00119477	1	1	0
SMG5	23381	broad.mit.edu	37	1	156238182	156238182	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156238182C>A	uc001foc.4	-	7	887	c.738G>T	c.(736-738)gaG>gaT	p.E246D		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	246					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CATAGGCTCCCTCAAAGGACA	0.498000														283			72		2.10328e-26	2.62844e-26	1	1	0
CYP20A1	57404	broad.mit.edu	37	2	204156990	204156990	+	Silent	SNP	C	T	T	rs149090400	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204156990C>T	uc010zif.2	+	10	1735	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	CYP20A1_uc002uzv.4_Silent_p.L363L|CYP20A1_uc002uzx.4_Silent_p.L261L|CYP20A1_uc002uzy.4_Silent_p.L261L|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Silent_p.L93L	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	363						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CACAGACCCTCGTCCTTTATG	0.343000														158			24		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91660882	91660882	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91660882A>G	uc003ulg.3	+	15	4527	c.4302A>G	c.(4300-4302)aaA>aaG	p.K1434K	AKAP9_uc003ule.2_Silent_p.K1446K|AKAP9_uc003ulf.3_Silent_p.K1434K|AKAP9_uc003uli.3_Silent_p.K1059K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1446					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.K1434K(1)|p.K1446K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGCTTGAAAAACAATACCAAG	0.294000			T	BRAF	papillary thyroid									55			15		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1109544	1109544	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109544C>T	uc002lrk.4	-	27	3415	c.3177G>A	c.(3175-3177)gcG>gcA	p.A1059A	SBNO2_uc002lrj.4_Silent_p.A1002A|SBNO2_uc010dse.3_Silent_p.A1042A	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	1059					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCCGTCAGCGCCAGCGACT	0.731000														29			4		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79867222	79867222	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79867222T>G	uc004akr.3	+	21	2502	c.2242T>G	c.(2242-2244)Ttg>Gtg	p.L748V	VPS13A_uc004akp.4_Missense_Mutation_p.L748V|VPS13A_uc004akq.4_Missense_Mutation_p.L748V|VPS13A_uc004aks.3_Missense_Mutation_p.L748V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	748					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						GCACTTCAATTTGGAACTGTC	0.373000														140			43		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1647332	1647332	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1647332G>T	uc002qxa.3	-	18	3824	c.3760C>A	c.(3760-3762)Cct>Act	p.P1254T		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1254					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		AACACCCCAGGGTTCTCATAC	0.567000														179			8		0.000157383	0.000162836	1	1	0
AARS2	57505	broad.mit.edu	37	6	44279892	44279892	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44279892G>T	uc010jza.1	-	1	355	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	TMEM151B_uc003oxg.3_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	118					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	ACATCTTCCAGGTCGTTATGG	0.517000														184			30		1.75199e-13	2.04201e-13	1	1	0
CLIP3	25999	broad.mit.edu	37	19	36517067	36517067	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517067G>A	uc010eeq.2	-	4	977	c.663C>T	c.(661-663)ggC>ggT	p.G221G	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Silent_p.G221G	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	221					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	p.G221G(2)|p.H220H(1)		cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGGGTTGGCGCCGTGCTCCA	0.637000														104			33		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48073291	48073291	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48073291C>T	uc001rpr.3	-	11	1388	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P	RPAP3_uc010slk.2_Silent_p.P265P|RPAP3_uc001rps.3_Intron	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	424							binding	p.P424L(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					ATCCAGGATGCGGTGGATTAT	0.323000														34			7		0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1537406	1537406	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1537406G>A	uc010uvf.2	-	1	692	c.692C>T	c.(691-693)cCt>cTt	p.P231L		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	236						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGCTGGAGGCTCCCGCCT	0.662000														141			26		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55663261	55663261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663261G>A	uc002qjg.4	-	7	574	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	TNNT1_uc002qjb.4_5'Flank|TNNT1_uc002qjc.4_5'Flank|TNNT1_uc002qje.4_5'Flank|TNNT1_uc002qjd.4_5'Flank|TNNT1_uc002qjf.2_5'Flank|TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	192			R -> H (in RCM1).		cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ATGTTCTTGCGCCAGTCTCCC	0.572000														71			19		0	0	1	0	0
MED20	9477	broad.mit.edu	37	6	41874828	41874828	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41874828C>T	uc003ork.3	-	3	742	c.621G>A	c.(619-621)ccG>ccA	p.P207P	MED20_uc003orj.3_Silent_p.P142P|MED20_uc011duh.2_3'UTR|MED20_uc011dui.2_Non-coding_Transcript|MED20_uc011duj.2_Silent_p.P142P	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Homo sapiens mediator complex subunit 20 (MED20), mRNA.	207				Missing (in Ref. 1; AAD16169).	regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCCAGCCACCGGCACCTGCT	0.572000														121			21		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148880586	148880586	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148880586A>G	uc003ewu.1	+	12	2542	c.2402A>G	c.(2401-2403)aAa>aGa	p.K801R	CP_uc011bnr.2_Non-coding_Transcript|HPS3_uc011bnq.1_Missense_Mutation_p.K636R|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	801						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTCTTTTTCAAACTCACATCA	0.453000									Hermansky-Pudlak syndrome					123			31		0	0	1	0	0
CCR6	1235	broad.mit.edu	37	6	167550300	167550300	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167550300C>T	uc003qvl.3	+	12	3058	c.582C>T	c.(580-582)agC>agT	p.S194S	CCR6_uc010kkm.3_Silent_p.S194S|CCR6_uc003qvn.4_Silent_p.S194S|CCR6_uc003qvm.4_Silent_p.S194S	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	194					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		CCCAAGGCAGCGATGTCTGTG	0.493000														127			36		0	0	1	0	0
TTBK1	84630	broad.mit.edu	37	6	43250511	43250511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43250511C>T	uc003ouq.1	+	13	2312	c.2033C>T	c.(2032-2034)gCt>gTt	p.A678V	TTBK1_uc021yzs.1_5'UTR	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	678						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CTCCCACGAGCTGTGCCTCTG	0.627000														280			61		0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469049	86469049	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86469049C>T	uc003uid.3	+	3	3318	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S612F|GRM3_uc010leh.3_Missense_Mutation_p.S332F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	740					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGTTGATCTCTCTTACCTAC	0.468000														119			12		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35549147	35549147	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35549147C>T	uc002hnm.3	-	36	4380	c.4189G>A	c.(4189-4191)Gct>Act	p.A1397T	ACACA_uc002hnk.3_Missense_Mutation_p.A1319T|ACACA_uc002hnl.3_Missense_Mutation_p.A1339T|ACACA_uc002hnn.3_Missense_Mutation_p.A1397T|ACACA_uc002hno.3_Missense_Mutation_p.A1434T|ACACA_uc010cuy.3_Missense_Mutation_p.A91T	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1397					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTGTGATTAGCACATGGAATG	0.493000														101			18		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40319092	40319092	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40319092C>T	uc002omj.3	-	5	932	c.652G>A	c.(652-654)Gcg>Acg	p.A218T	DYRK1B_uc002omi.3_Missense_Mutation_p.A218T|DYRK1B_uc002omk.3_Missense_Mutation_p.A218T	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	218	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGCTGCTGCGCCAGCTTCCGG	0.597000														38			11		0	0	1	0	0
TCF7	6932	broad.mit.edu	37	5	133473798	133473798	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133473798G>A	uc003kyt.3	+	3	686	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	TCF7_uc003kyv.3_Missense_Mutation_p.E49K|TCF7_uc003kyw.3_Missense_Mutation_p.E49K|TCF7_uc003kyu.2_Missense_Mutation_p.E49K|TCF7_uc003kyy.3_Missense_Mutation_p.E49K|TCF7_uc003kyx.3_5'UTR|TCF7_uc003kyz.3_Missense_Mutation_p.E49K|TCF7_uc003kza.3_Missense_Mutation_p.E49K	NM_003202	NP_998813	P36402	TCF7_HUMAN	Homo sapiens transcription factor 7 (T-cell specific, HMG-box) (TCF7), transcript variant 1, mRNA.	164					Wnt receptor signaling pathway|cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription regulatory region DNA binding	p.E164K(3)		kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCTCTCTACGAACATTTCAA	0.592000														141			33		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139237004	139237004	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139237004C>A	uc003qii.3	-	13	2290	c.1711G>T	c.(1711-1713)Gtc>Ttc	p.V571F	REPS1_uc003qig.4_Missense_Mutation_p.V544F|REPS1_uc011edr.2_Missense_Mutation_p.V570F|REPS1_uc003qij.3_Intron|REPS1_uc003qik.3_Missense_Mutation_p.V177F	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	571	Pro-rich.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CCTGTGGTGACTGTAAAGGTC	0.398000														110			27		4.43304e-23	5.48192e-23	1	1	0
PTPDC1	138639	broad.mit.edu	37	9	96860214	96860214	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96860214G>A	uc010mrj.2	+	5	1468	c.1366G>A	c.(1366-1368)Gag>Aag	p.E456K	PTPDC1_uc004auf.2_Missense_Mutation_p.E402K|PTPDC1_uc004aug.2_Missense_Mutation_p.E402K|PTPDC1_uc004auh.2_Missense_Mutation_p.E454K|PTPDC1_uc010mri.2_Missense_Mutation_p.E454K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	402							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAAGAGGGCCGAGAACCTCCT	0.527000														81			9		0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408806	45408806	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45408806G>A	uc001zuo.3	+	3	714	c.433G>A	c.(433-435)Gca>Aca	p.A145T	DUOX2_uc001zun.3_5'Flank|DUOX2_uc010bea.3_5'Flank|DUOXA2_uc010beb.3_Non-coding_Transcript	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN	Homo sapiens dual oxidase maturation factor 2 (DUOXA2), mRNA.	145					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GTACGCGAACGCACTGGAGAA	0.607000														123			28		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52115445	52115445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52115445C>T	uc001ryw.3	+	11	1929	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	SCN8A_uc010snl.2_Missense_Mutation_p.A584V|SCN8A_uc001ryx.1_Missense_Mutation_p.A449V|SCN8A_uc001ryz.1_Missense_Mutation_p.A449V|SCN8A_uc001ryy.2_Missense_Mutation_p.A449V	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	584					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AATGAGTTCGCGGATGACGAG	0.672000														42			12		0	0	1	0	0
HECA	51696	broad.mit.edu	37	6	139498117	139498117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139498117G>A	uc003qin.3	+	3	1792	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	503					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GCCGGTGATCGACGTGAGGAT	0.547000														49			12		0	0	1	0	0
RGL4	266747	broad.mit.edu	37	22	24034358	24034358	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24034358C>T	uc002zxo.3	+	0	1398	c.141C>T	c.(139-141)ggC>ggT	p.G47G	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.G47G|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	47					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						TGCTGTATGGCCAGGTCTGCC	0.632000														236			55		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20769306	20769306	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20769306C>T	uc001reh.2	+	3	1452	c.1412C>T	c.(1411-1413)gCa>gTa	p.A471V	PDE3A_uc021qwa.1_Missense_Mutation_p.A149V	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	471					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGCAGGAAGCACCTTCATCC	0.512000														135			31		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113984	147113984	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147113984C>T	uc011bno.2	-	2	679	c.493G>A	c.(493-495)Gct>Act	p.A165T	ZIC4_uc003ewc.2_Missense_Mutation_p.A45T|ZIC4_uc021xff.1_Missense_Mutation_p.A153T|ZIC4_uc003ewd.2_Missense_Mutation_p.A115T|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	115						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGGAAGAAAGCGCCAGGACCG	0.677000														134			33		0	0	1	0	0
ADAM9	8754	broad.mit.edu	37	8	38940233	38940233	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38940233G>A	uc003xmr.3	+	16	2033	c.1955G>A	c.(1954-1956)gGa>gAa	p.G652E	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Intron	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	652	EGF-like.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AAGTGTCATGGACATGGGGTA	0.358000														50			17		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38763851	38763851	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38763851C>T	uc003ciq.3	-	18	3405	c.3405G>A	c.(3403-3405)tgG>tgA	p.W1135*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1135					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCACATCCCATGGACTCT	0.562000														198			42		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15212016	15212016	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15212016C>T	uc002gon.3	-	7	1408	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P		NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.	407					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		ACTCAATGTTCGGCCGTCTTG	0.577000														189			38		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1270821	1270821	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1270821G>A	uc001lta.3	+	30	12770	c.12711G>A	c.(12709-12711)acG>acA	p.T4237T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4237	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCTCTACGGCCATGCCCT	0.607000														307			67		0	0	1	0	0
CTSL3	392360	broad.mit.edu	37	9	90388108	90388108	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90388108G>A	uc004apm.1	+	1	179	c.173G>A	c.(172-174)cGc>cAc	p.R58H						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						CATGACATCCGCAAATCTGTG	0.498000														76			24		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	134999981	134999981	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134999981C>A	uc001llz.1	+	5	1130	c.1129C>A	c.(1129-1131)Ccc>Acc	p.P377T	KNDC1_uc001lma.1_Missense_Mutation_p.P312T	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	377					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGGACGGGTTCCCTGTGCAGG	0.672000														70			18		9.16793e-09	1.00855e-08	1	1	0
RNF103	7844	broad.mit.edu	37	2	86831816	86831816	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831816G>T	uc002srn.3	-	3	2199	c.1208C>A	c.(1207-1209)gCt>gAt	p.A403D	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.A264D|RNF103_uc021vkg.1_Missense_Mutation_p.A399D|BC066991_uc002sro.3_Intron	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	403					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TACCCATGAAGCCAGTGTGGT	0.398000														93			20		3.99206e-14	4.68177e-14	1	1	0
PPFIA3	8541	broad.mit.edu	37	19	49632175	49632175	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49632175G>A	uc002pmr.3	+	3	745	c.413G>A	c.(412-414)cGc>cAc	p.R138H	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.R62H|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.R6H	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	138						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GTGGTGAAGCGCCAGGCCCAG	0.597000														194			36		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689673	109689673	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109689673C>T	uc004bcz.3	+	2	3769	c.3480C>T	c.(3478-3480)gtC>gtT	p.V1160V	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Silent_p.V1008V|ZNF462_uc004bda.3_Silent_p.V1008V	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1160					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGAGAGGGGTCGAAGGGCCCC	0.552000														265			58		0	0	1	0	0
ETV7	51513	broad.mit.edu	37	6	36336729	36336729	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36336729C>T	uc003omb.3	-	5	1043	c.784G>A	c.(784-786)Gcc>Acc	p.A262T	ETV7_uc003olz.2_Missense_Mutation_p.A262T|ETV7_uc003oma.2_Missense_Mutation_p.A207T|ETV7_uc003omc.3_Missense_Mutation_p.A207T|ETV7_uc010jwj.3_Missense_Mutation_p.A203T|ETV7_uc010jwi.3_Missense_Mutation_p.A185T|ETV7_uc010jwh.3_Missense_Mutation_p.A181T|ETV7_uc011dtl.2_Missense_Mutation_p.A111T	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	262					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						CAGAGTCTGGCGAGCCCATTT	0.537000														228			49		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131243904	131243904	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131243904C>T	uc004bvc.3	+	8	1167	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	ODF2_uc011maz.2_Silent_p.L297L|ODF2_uc011mba.2_Non-coding_Transcript|ODF2_uc010myb.3_Silent_p.L273L|ODF2_uc011mbc.2_Silent_p.L216L|ODF2_uc022boj.1_Silent_p.L322L|ODF2_uc004bva.3_Silent_p.L341L|ODF2_uc004bvb.3_Silent_p.L273L|ODF2_uc011mbd.2_Silent_p.L297L|ODF2_uc011mbe.2_Silent_p.L292L|ODF2_uc010myc.3_Silent_p.L240L|ODF2_uc011mbf.2_Silent_p.L278L|ODF2_uc004bvd.4_Silent_p.L297L|ODF2_uc004bve.3_Silent_p.L278L	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	297					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCTGAAACGGCTGGCGGAGGC	0.483000														76			13		0	0	1	0	0
FGGY	55277	broad.mit.edu	37	1	60139717	60139717	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60139717C>T	uc009wac.3	+	14	1708	c.1496C>T	c.(1495-1497)cCt>cTt	p.P499L	FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.P475L|FGGY_uc001czl.4_Missense_Mutation_p.P387L|FGGY_uc001czm.4_Missense_Mutation_p.P176L	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	475					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GCAGGCATGCCTGTGGTCCTG	0.582000														27			5		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102055907	102055907	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102055907G>T	uc001kqx.1	-	6	1711	c.1328C>A	c.(1327-1329)gCt>gAt	p.A443D	PKD2L1_uc009xwm.1_Missense_Mutation_p.A396D	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	443					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GAGGTTGACAGCATTCATGTT	0.493000														121			24		1.55469e-16	1.85573e-16	1	1	0
PRPH	5630	broad.mit.edu	37	12	49691311	49691311	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49691311G>T	uc001rtu.3	+	5	1243	c.1168G>T	c.(1168-1170)Gac>Tac	p.D390Y		NM_006262	NP_006253	P41219	PERI_HUMAN	Homo sapiens peripherin (PRPH), mRNA.	390	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GATGGCCCTGGACATCGAGAT	0.692000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		121			17		2.35188e-11	2.67805e-11	1	1	0
ZNF878	729747	broad.mit.edu	37	19	12155662	12155662	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12155662G>T	uc021upl.1	-	3	720	c.554C>A	c.(553-555)tCt>tAt	p.S185Y	ZNF878_uc002mta.1_Missense_Mutation_p.S232Y	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TCTACGAACAGAACTGGGAAA	0.398000														238			53		6.27289e-28	7.86898e-28	1	1	0
IL32	9235	broad.mit.edu	37	16	3117423	3117423	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3117423C>T	uc002ctq.3	+	2	156	c.61C>T	c.(61-63)Ctc>Ttc	p.L21F	IL32_uc002ctn.3_Intron|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Missense_Mutation_p.L21F|IL32_uc010uwp.2_Intron|IL32_uc010btb.3_Intron|IL32_uc002ctl.3_Intron|IL32_uc002ctm.3_Intron|IL32_uc002ctp.3_Intron|IL32_uc010uwq.1_Missense_Mutation_p.L21F|IL32_uc002ctr.3_Intron|IL32_uc002ctt.3_Intron|IL32_uc010uwr.2_Intron|IL32_uc002ctu.3_Intron|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	21					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						AATGGTAATGCTCCTCCCTAC	0.567000														190			43		0	0	1	0	0
ZNF77	58492	broad.mit.edu	37	19	2934085	2934085	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2934085C>T	uc002lws.4	-	3	1171	c.1040G>A	c.(1039-1041)aGt>aAt	p.S347N		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTCTCTCCACTGTGCGTTCT	0.512000														104			26		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568492	119568492	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568492C>T	uc001txa.2	+	7	1012	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	208	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding	p.R207H(1)|p.R207C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GGCACCGCGGCCGGTCCCCTG	0.632000														48			12		0	0	1	0	0
TMEM173	340061	broad.mit.edu	37	5	138860412	138860412	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860412C>T	uc003lep.3	-	4	785	c.483G>A	c.(481-483)tgG>tgA	p.W161*		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	161					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGTAATATGACCATGCCAGCC	0.562000														66			13		0	0	1	0	0
RPL10A	4736	broad.mit.edu	37	6	35438416	35438416	+	Nonsense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35438416T>A	uc003okp.1	+	5	577	c.543T>A	c.(541-543)taT>taA	p.Y181*	RPL10A_uc003oks.1_Nonsense_Mutation_p.Y97*	NM_007104	NP_009035	P62906	RL10A_HUMAN	Homo sapiens ribosomal protein L10a (RPL10A), mRNA.	181					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			breast(1)|large_intestine(2)|ovary(1)	4						AGCTTGTGTATAACATTCACC	0.502000														135			6		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411487	5411487	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411487C>T	uc010qzc.2	+	0	881	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	287						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCATCTTCTTATGGCCAA	0.498000														66			13		0	0	1	0	0
C8orf31	286122	broad.mit.edu	37	8	144124636	144124636	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144124636G>T	uc003yxp.1	+	2	495	c.143G>T	c.(142-144)aGg>aTg	p.R48M	C8orf31_uc003yxq.1_Non-coding_Transcript|C8orf31_uc003yxr.1_Non-coding_Transcript	NM_173687	NP_775958	Q8N9H6	CH031_HUMAN	Homo sapiens chromosome 8 open reading frame 31 (C8orf31), mRNA.	48										breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10	all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCATTGCAGAGGTCTCCCTTG	0.622000														75			8		5.18039e-06	5.47662e-06	1	1	0
DSP	1832	broad.mit.edu	37	6	7565651	7565651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7565651G>A	uc003mxp.1	+	6	1116	c.837G>A	c.(835-837)acG>acA	p.T279T	DSP_uc003mxq.1_Silent_p.T279T|DSP_uc021yle.1_Silent_p.T279T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	279	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		TTCAGGCCACGTCCAGGGAGA	0.507000														151			14		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32722003	32722003	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32722003T>G	uc001utx.3	+	12	1807	c.1311T>G	c.(1309-1311)ctT>ctG	p.L437L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCACAACACTTTTCCCCAAAG	0.463000														127			28		0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19389537	19389537	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19389537C>T	uc002nmh.3	-	10	1613	c.1597G>A	c.(1597-1599)Gag>Aag	p.E533K	SUGP1_uc002nmf.3_Missense_Mutation_p.E83K|SUGP1_uc002nmg.3_Missense_Mutation_p.E83K|SUGP1_uc002nmi.3_Missense_Mutation_p.E323K|SUGP1_uc002nmj.3_Missense_Mutation_p.E323K|SUGP1_uc002nme.3_Missense_Mutation_p.E83K	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	Homo sapiens SURP and G patch domain containing 1 (SUGP1), mRNA.	533					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TTTTCCAGCTCGTCTGGAGGC	0.592000														59			12		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432737	104432737	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104432737A>C	uc004bbp.2	-	2	2558	c.1957T>G	c.(1957-1959)Ttg>Gtg	p.L653V	GRIN3A_uc004bbq.1_Missense_Mutation_p.L653V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	653					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AAGATGCCCAAGCTGGTGGAG	0.537000														115			28		0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25973170	25973170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25973170G>A	uc002rgs.2	-	10	1476	c.1255C>T	c.(1255-1257)Ctt>Ttt	p.L419F	ASXL2_uc002rgt.1_Missense_Mutation_p.L159F	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTCTGATAAGAGAGGCCTCT	0.438000														349			82		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52323862	52323862	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52323862C>T	uc003xqu.4	-	15	2111	c.2010G>A	c.(2008-2010)caG>caA	p.Q670Q	PXDNL_uc003xqt.4_5'Flank	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	670					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)				CCCGTATCAGCTGCAGCGTGT	0.522000														22			6		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31927189	31927189	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927189G>T	uc002ecs.4	+	3	1828	c.1619G>T	c.(1618-1620)aGa>aTa	p.R540I		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	540					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGCATGAGAGAATTCATACT	0.343000														73			17		5.3912e-06	5.69533e-06	1	1	0
TMEM59L	25789	broad.mit.edu	37	19	18724721	18724721	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724721G>A	uc010ebu.1	+	1	298	c.211G>A	c.(211-213)Gcc>Acc	p.A71T	TMEM59L_uc002njy.4_Missense_Mutation_p.A71T	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	71						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						CTATGACAGAGCCGTTCTGAT	0.662000														205			44		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122219028	122219028	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122219028G>A	uc001ubb.3	-	2	352	c.297C>T	c.(295-297)gaC>gaT	p.D99D	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Non-coding_Transcript|RHOF_uc001ubd.4_Silent_p.D99D	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	99					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GATTCATGACGTCATAGCAGA	0.642000														145			23		0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228205077	228205077	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228205077C>T	uc002vos.3	+	5	911	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	MFF_uc002vot.3_Silent_p.L141L|MFF_uc002vow.3_Silent_p.L141L|MFF_uc002voy.3_Silent_p.L167L|MFF_uc021vxu.1_Silent_p.L141L|MFF_uc002voz.3_Silent_p.L141L	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	167						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AAATGGACAGCTGGTCAGAAA	0.388000														36			13		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37605152	37605152	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37605152G>A	uc003onu.1	-	16	4039	c.2860C>T	c.(2860-2862)Cag>Tag	p.Q954*	MDGA1_uc003onv.1_3'UTR	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	954					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		p.A954A(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CATCATCTCTGCAACGCCAAG	0.637000														140			9		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017342	91017342	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91017342C>T	uc002bpl.1	+	21	2653	c.2552C>T	c.(2551-2553)gCt>gTt	p.A851V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	851	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAAAGCTCGGGATGAC	0.433000														55			6		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568590	119568590	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568590C>T	uc001txa.2	+	7	1110	c.722C>T	c.(721-723)cCg>cTg	p.P241L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	241	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCCAGTCGCCCGCCCAGTCAA	0.647000														57			14		0	0	1	0	0
GFPT1	2673	broad.mit.edu	37	2	69553337	69553337	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69553337G>T	uc002sfi.2	-	19	2267	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	GFPT1_uc002sfh.3_Missense_Mutation_p.S677Y	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	695					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TACAGTCACAGATTTGGCAAG	0.333000														32			9		1.08611e-07	1.17606e-07	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57829178	57829178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829178C>T	uc002yan.3	+	4	4414	c.4414C>T	c.(4414-4416)Cct>Tct	p.P1472S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1472						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCTCAAAGGCCTTCTTCCTT	0.498000														147			30		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120277277	120277277	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120277277C>T	uc001ehz.3	+	5	758	c.531C>T	c.(529-531)atC>atT	p.I177I	PHGDH_uc009whl.3_Silent_p.I79I|PHGDH_uc009whm.3_Silent_p.I75I|PHGDH_uc001eib.3_Silent_p.I143I	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	177					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	ATGACCCCATCATTTCCCCAG	0.463000														345			33		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1282650	1282650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1282650C>T	uc003jcb.1	-	2	1721	c.1663G>A	c.(1663-1665)Gag>Aag	p.E555K	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.E555K|TERT_uc003jca.1_Missense_Mutation_p.E555K|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.E7K	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	555					DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.E555Q(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGAGCAGCTCGACGACGTAC	0.527000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					141			25		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77458776	77458776	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77458776C>A	uc003kfj.3	-	13	1356	c.1231_splice	c.e13-1	p.T411_splice		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	411					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TCACATAGGTCTAAAAGATAT	0.348000									Hermansky-Pudlak syndrome					105			14		0.00244969	0.00249783	1	1	0
IFLTD1	160492	broad.mit.edu	37	12	25702320	25702320	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25702320T>G	uc010sji.1	-	2	495	c.250A>C	c.(250-252)Act>Cct	p.T84P	IFLTD1_uc001rgt.1_5'UTR|IFLTD1_uc001rgs.2_Missense_Mutation_p.T63P|IFLTD1_uc010sjj.2_Intron|IFLTD1_uc009zjc.2_Missense_Mutation_p.T84P	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	63						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					AATTGTCCAGTTGTTGATATA	0.388000														48			11		0	0	1	0	0
GALNTL2	117248	broad.mit.edu	37	3	16254087	16254087	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16254087T>G	uc003car.4	+	5	1684	c.1209T>G	c.(1207-1209)tgT>tgG	p.C403W	GALNTL2_uc003caq.4_Missense_Mutation_p.C136W	NM_054110	NP_473451	Q8N3T1	GLTL2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2 (GALNTL2), mRNA.	403	Catalytic subdomain B.					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						CCTGGCTCTGTGGTGGCTCTG	0.542000														78			17		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33641986	33641986	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33641986T>C	uc003jia.1	-	10	1810	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	ADAMTS12_uc010iuq.1_Silent_p.S549S	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	549	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGACCAGGGTGACCAGCGGC	0.572000										HNSCC(64;0.19)				111			20		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106791307	106791307	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791307C>T	uc021ser.1	-	619		c.17085G>A								Parts of antibodies, mostly variable regions.																		TGACACTGGACACCTGCAAAC	0.517000														346			13		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951867	30951867	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951867G>A	uc003aig.1	-	3	485	c.345C>T	c.(343-345)ttC>ttT	p.F115F	GAL3ST1_uc003aih.1_Silent_p.F115F|GAL3ST1_uc003aii.1_Silent_p.F115F|GAL3ST1_uc010gvz.1_Silent_p.F115F	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	115					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						TCGGGTAGTCGAAGTCATTGC	0.612000														301			25		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107390904	107390904	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107390904G>T	uc003prs.2	-	4	2141	c.1491C>A	c.(1489-1491)gaC>gaA	p.D497E		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	497										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGTAGCAGTCATCACGCG	0.672000														114			20		1.01871e-10	1.15017e-10	1	1	0
ODF1	4956	broad.mit.edu	37	8	103564276	103564276	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103564276G>T	uc003ykt.2	+	1	428	c.320_splice	c.e1+1	p.K107_splice		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	Homo sapiens outer dense fiber of sperm tails 1 (ODF1), mRNA.	107					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AGCTTGCCAAGtaaaataact	0.343000														78			17		5.01169e-05	5.22235e-05	1	1	0
TCRA	0	broad.mit.edu	37	14	22616333	22616333	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22616333G>A	uc010ajk.2	+	1	160	c.74G>A	c.(73-75)aGc>aAc	p.S25N	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|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		CTGGAGCAGAGCCCTCAGTTT	0.483000														61			11		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064762	49064762	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064762T>C	uc001zwz.3	-	12	1897	c.1704A>G	c.(1702-1704)caA>caG	p.Q568Q	CEP152_uc001zwy.3_Silent_p.Q568Q|CEP152_uc001zxa.2_Silent_p.Q475Q	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	568					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGAGGTCATTTTGTAACTGAG	0.388000														130			23		0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692672	140692672	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140692672G>T	uc003etr.2	+	5	802	c.567G>T	c.(565-567)gaG>gaT	p.E189D	SLC25A36_uc003ets.2_Missense_Mutation_p.E189D|SLC25A36_uc003etq.2_Missense_Mutation_p.E32D|SLC25A36_uc011bmz.1_Missense_Mutation_p.E163D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	189					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTATATCAGAGACTGTTATCC	0.353000														72			17		0.000422831	0.000435635	1	1	0
PSME4	23198	broad.mit.edu	37	2	54159848	54159848	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54159848C>T	uc002rxp.2	-	8	1063	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	PSME4_uc010yop.1_Missense_Mutation_p.S222N|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Missense_Mutation_p.S321N	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	336					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGATGTGATGCTGTTAAACAA	0.383000														123			31		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140774173	140774173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140774173C>T	uc003lkd.2	+	0	2691	c.1793C>T	c.(1792-1794)tCg>tTg	p.S598L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.S598L|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGACTCGGGCCAGAAC	0.711000														216			48		0	0	1	0	0
CBX3	11335	broad.mit.edu	37	7	26251332	26251332	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26251332T>C	uc003sxt.3	+	4	760	c.381T>C	c.(379-381)atT>atC	p.I127I	CBX3_uc003sxu.3_Silent_p.I127I|CBX3_uc003sxv.3_3'UTR	NM_007276	NP_057671	Q13185	CBX3_HUMAN	Homo sapiens chromobox homolog 3 (CBX3), transcript variant 1, mRNA.	127	Chromo 2; shadow subtype.				chromatin remodeling|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome, centromeric region|nuclear centromeric heterochromatin|nuclear euchromatin|nuclear inner membrane|spindle	enzyme binding|protein domain specific binding			endometrium(4)|large_intestine(2)|lung(2)|ovary(1)	9						AAAGAATAATTGGTGCCACAG	0.348000														74			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473062	22473062	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22473062T>C	uc001yuj.2	-	6		c.266A>G								Parts of antibodies, mostly variable regions.																		ATGATAGATTTCCCCAATCCA	0.567000														457			49		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49420094	49420094	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420094G>T	uc001rta.4	-	47	15655	c.15655C>A	c.(15655-15657)Ctc>Atc	p.L5219I		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5219	FYR N-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TTGGTGCGGAGGCTCCAATAG	0.582000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				115			19		3.32936e-07	3.57961e-07	1	1	0
MSH3	4437	broad.mit.edu	37	5	80150042	80150042	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80150042G>T	uc003kgz.3	+	20	3160	c.2907G>T	c.(2905-2907)caG>caT	p.Q969H		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	969					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		CAACATCACAGTCCTTGGTTA	0.403000								Mismatch excision repair (MMR)						95			20		7.45023e-12	8.53574e-12	1	1	0
ADAR	103	broad.mit.edu	37	1	154574527	154574527	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154574527G>A	uc001ffh.3	-	1	833	c.591C>T	c.(589-591)atC>atT	p.I197I	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Silent_p.I197I|ADAR_uc001ffi.3_Silent_p.I197I|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	197					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	p.I197I(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TGGAGACCGCGATTTTCCACA	0.522000														253			71		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34118487	34118487	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34118487T>C	uc011kap.2	+	12	1471	c.1097T>C	c.(1096-1098)gTg>gCg	p.V366A		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	366	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTTTGCACGGTGTTTGGAGAT	0.537000														181			36		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458178	120458178	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120458178C>T	uc001eik.3	-	33	7464	c.7167G>A	c.(7165-7167)caG>caA	p.Q2389Q		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	2389					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.S2388L(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATAACTGTGCTGTGAAGGGG	0.582000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					165			28		0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62356929	62356929	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62356929G>A	uc003dlh.2	-	2	1290	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	FEZF2_uc003dli.2_Silent_p.F361F	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	361					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		ATTCGCAGACGAAGGGCTTGT	0.572000														204			22		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66816068	66816068	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66816068G>A	uc009yrl.3	+	7	1336	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SYT12_uc001oju.3_Missense_Mutation_p.R369H	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	369	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane		p.R369H(2)|p.R369C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CTGTCTCTCCGCGTGACGGTG	0.597000														136			31		0	0	1	0	0
KRT6C	286887	broad.mit.edu	37	12	52863465	52863465	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52863465G>A	uc001sal.4	-	6	1461	c.1413C>T	c.(1411-1413)ggC>ggT	p.G471G		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	471	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TGCACTCCTCGCCCTCCAGCA	0.582000														217			37		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33855181	33855181	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33855181A>G	uc001zhi.3	+	10	1186	c.1116A>G	c.(1114-1116)aaA>aaG	p.K372K	RYR3_uc010bar.3_Silent_p.K372K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	372	MIR 5.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGACGCCAAAACTTCCCGCC	0.448000														135			27		0	0	1	0	0
STK33	65975	broad.mit.edu	37	11	8414220	8414220	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8414220T>G	uc001mgi.1	-	11	2301	c.1382A>C	c.(1381-1383)aAg>aCg	p.K461T	STK33_uc001mgj.1_Missense_Mutation_p.K461T|STK33_uc001mgk.1_Missense_Mutation_p.K461T|STK33_uc010rbn.1_Missense_Mutation_p.K420T|STK33_uc001mgl.3_Missense_Mutation_p.K274T	NM_030906	NP_112168	Q9BYT3	STK33_HUMAN	Homo sapiens serine/threonine kinase 33 (STK33), mRNA.	461						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		AAAGTTGTCCTTACTGGTTGC	0.393000														112			30		0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58260429	58260429	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58260429G>T	uc003djs.4	+	5	978	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	ABHD6_uc003djt.4_Nonsense_Mutation_p.E190*	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	190						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		ACGGCTCAAAGAACTGCAGGG	0.493000														186			38		6.05902e-23	7.48453e-23	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885789	88885789	+	Missense_Mutation	SNP	G	T	T	rs118036816		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:88885789G>T	uc003ydz.3	-	0	508	c.411C>A	c.(409-411)caC>caA	p.H137Q		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	137										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGGAATCCAAGTGATTCAGTG	0.562000														178			25		9.86323e-18	1.1857e-17	1	1	0
SWAP70	23075	broad.mit.edu	37	11	9761736	9761736	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9761736G>T	uc001mhw.3	+	8	1296	c.1197G>T	c.(1195-1197)caG>caT	p.Q399H	SWAP70_uc001mhv.3_Missense_Mutation_p.Q399H|SWAP70_uc001mhx.3_Missense_Mutation_p.Q341H	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	399						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AGATCAGACAGCAGATGGAAG	0.493000														72			13		7.03913e-09	7.75971e-09	1	1	0
CCDC13	152206	broad.mit.edu	37	3	42781273	42781273	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42781273C>T	uc003cly.4	-	8	1101	c.1017G>A	c.(1015-1017)caG>caA	p.Q339Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	339										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CAAGCTCTCTCTGGAGGACAT	0.532000														145			33		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169116331	169116331	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169116331C>A	uc003maf.3	+	8	917	c.837C>A	c.(835-837)gtC>gtA	p.V279V	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	279					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			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)			TGAAGGTGGTCTTCACGGTGA	0.552000														76			18		3.32936e-07	3.57961e-07	1	1	0
EIF3C	8663	broad.mit.edu	37	16	28734529	28734529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28734529G>A	uc010byj.3	+	8	910	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	NPIPL1_uc010vct.2_Intron|EIF3C_uc010byi.3_Missense_Mutation_p.R274Q|EIF3C_uc002dqs.4_Missense_Mutation_p.R274Q|EIF3C_uc002dqt.4_Missense_Mutation_p.R274Q|EIF3C_uc010vcy.2_Missense_Mutation_p.R264Q|EIF3C_uc002dqu.4_Missense_Mutation_p.R274Q|EIF3C_uc002dqv.4_Missense_Mutation_p.R20Q	NM_001099661	NP_003743	Q99613	EIF3C_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit C-like (EIF3CL), mRNA.	274						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			lung(5)|skin(1)	6						GAGAAGAAACGGGAGGACAAA	0.582000														413			24		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24880593	24880593	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24880593A>C	uc001wpf.4	+	5	2897	c.2579A>C	c.(2578-2580)aAg>aCg	p.K860T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	860					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CACTCGCTCAAGATGCTTTCA	0.552000											OREG0022626	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		378			80		0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31136041	31136041	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31136041C>A	uc010sju.2	+	6	1038	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TSPAN11_uc001rjp.3_Missense_Mutation_p.L220M|TSPAN11_uc010sjv.2_Missense_Mutation_p.L210M	NM_001080509	NP_001073978	A1L157	TSN11_HUMAN	Homo sapiens tetraspanin 11 (TSPAN11), mRNA.	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGCCGACCACCTGCTGCTTAT	0.662000														47			12		0.00010058	0.000104357	1	1	0
RHD	6007	broad.mit.edu	37	1	25599174	25599174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25599174G>A	uc009vro.3	+	0	194	c.136G>A	c.(136-138)Gca>Aca	p.A46T	C1orf63_uc021ojj.1_Intron|RHD_uc010oep.2_Missense_Mutation_p.A46T|RHD_uc001bjz.3_Missense_Mutation_p.A46T|RHD_uc001bkc.3_Missense_Mutation_p.A46T|RHD_uc009vrm.3_5'UTR|RHD_uc001bka.3_Missense_Mutation_p.A46T|RHD_uc001bkb.3_Missense_Mutation_p.A46T|RHD_uc009vrn.3_Missense_Mutation_p.A46T|RHD_uc009vrp.3_Missense_Mutation_p.A46T			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	46						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGCTCGTGGCATCCTATCA	0.537000														198			35		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32783857	32783857	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32783857C>A	uc001utx.3	+	32	4907	c.4411C>A	c.(4411-4413)Ctc>Atc	p.L1471I	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.V1470V(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGACACAGTTCTCCTACCCTA	0.488000														91			23		7.87624e-14	9.21814e-14	1	1	0
DPF2	5977	broad.mit.edu	37	11	65113775	65113775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113775G>A	uc001odm.3	+	8	1095	c.962G>A	c.(961-963)cGc>cAc	p.R321H	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	321					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	p.R321S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AAGACATACCGCTGGCAGTGC	0.562000														76			25		0	0	1	0	0
ACTN3	89	broad.mit.edu	37	11	66329613	66329613	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66329613C>T	uc021qma.1	+	7	1063	c.550C>T	c.(550-552)Cga>Tga	p.R184*	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	766	Actin-binding.|CH 2.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAACGAGTTCCGAGCATCCTT	0.597000														100			29		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36216437	36216437	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36216437G>A	uc021usv.1	+	11	3700	c.3700G>A	c.(3700-3702)Gag>Aag	p.E1234K	MLL2_uc021usu.1_Missense_Mutation_p.E48K	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1413					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.T1233S(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGAGGAGGCCGAGCGGCCCCT	0.597000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				483			104		0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48506304	48506304	+	Silent	SNP	C	T	T	rs3135938		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48506304C>T	uc003ctf.1	+	11	2162	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	ATRIP_uc011bbj.1_Silent_p.T583T|ATRIP_uc003ctg.1_Silent_p.T683T|TREX1_uc010hjy.3_5'UTR|TREX1_uc003ctj.3_5'UTR|TREX1_uc010hjz.3_5'Flank|TREX1_uc003ctk.3_5'Flank|TREX1_uc010hka.3_5'Flank	NM_130384	NP_569055	Q8WXE1	ATRIP_HUMAN	Homo sapiens ATR interacting protein (ATRIP), transcript variant 1, mRNA.	710					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCCAAGGACCGACCAGCAGA	0.642000								Other conserved DNA damage response genes						112			18		0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46637220	46637220	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46637220C>T	uc001ncy.3	-	1	816	c.568G>A	c.(568-570)Gag>Aag	p.E190K	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	190						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CAGTTTGTCTCCACGGTCATT	0.512000														302			82		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45173747	45173747	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45173747C>T	uc010skz.1	-	4	669	c.544G>A	c.(544-546)Ggc>Agc	p.G182S	NELL2_uc001rof.3_Missense_Mutation_p.G131S|NELL2_uc001rog.2_Missense_Mutation_p.G132S|NELL2_uc001roh.2_Missense_Mutation_p.G132S|NELL2_uc009zkd.2_Missense_Mutation_p.G131S|NELL2_uc010sla.1_Missense_Mutation_p.G155S|NELL2_uc001roi.1_Missense_Mutation_p.G132S|NELL2_uc010slb.1_Missense_Mutation_p.G131S|NELL2_uc001roj.2_Missense_Mutation_p.G132S	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	132	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CGGTGACTGCCTGAGCGGTAA	0.468000														167			32		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60913186	60913186	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60913186C>A	uc002ycq.3	-	13	1844	c.1777G>T	c.(1777-1779)Gga>Tga	p.G593*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.G593*	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	593	Laminin EGF-like 6.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAAGGTTCCTGCAGGGCTG	0.672000														35			9		0.0477658	0.0480153	1	1	0
DLG3	1741	broad.mit.edu	37	X	69719830	69719830	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69719830C>T	uc004dyi.2	+	15	2423	c.2076C>T	c.(2074-2076)atC>atT	p.I692I	DLG3_uc004dyj.2_Silent_p.I387I|DLG3_uc011mpn.2_Silent_p.I241I	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	692	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					ACAAGTTCATCGAGGCGGGCC	0.507000														48			18		0	0	1	0	0
EDN3	1908	broad.mit.edu	37	20	57899506	57899506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57899506G>A	uc002yap.3	+	4	1078	c.709G>A	c.(709-711)Gcc>Acc	p.A237T	EDN3_uc002yao.1_3'UTR|EDN3_uc002yaq.3_Missense_Mutation_p.A237T|EDN3_uc002yar.3_3'UTR|EDN3_uc002yas.3_Missense_Mutation_p.A223T	NM_000114	NP_996917	P14138	EDN3_HUMAN	Homo sapiens endothelin 3 (EDN3), transcript variant 1, mRNA.	237					cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of MAP kinase activity|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					TCAGGAAGGAGCCCCTTAGGA	0.557000														213			61		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060913	111060913	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060913A>C	uc001dzt.1	-	0	885	c.497T>G	c.(496-498)aTc>aGc	p.I166S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	166						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.I166I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		ATAGAAGGAGATTTCATCAGC	0.488000														101			30		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39292728	39292728	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39292728G>A	uc002ojg.3	-	8	943	c.729C>T	c.(727-729)aaC>aaT	p.N243N		NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	243	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding	p.G242S(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCACGGTACCGTTGCCCATGC	0.552000														99			22		0	0	1	0	0
AKTIP	64400	broad.mit.edu	37	16	53532472	53532472	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53532472C>T	uc002ehm.3	-	2	261	c.79G>A	c.(79-81)Gtg>Atg	p.V27M	AKTIP_uc002ehk.3_Missense_Mutation_p.V27M|AKTIP_uc002ehl.3_Missense_Mutation_p.V27M|AKTIP_uc010vgx.2_Missense_Mutation_p.V27M	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	27					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding	p.D26H(1)		large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				CTGGTTTTCACGTCCCCTGTT	0.423000														130			27		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17211831	17211831	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:17211831G>A	uc002dfa.3	-	10	2314	c.2229C>T	c.(2227-2229)ggC>ggT	p.G743G		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	743					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCAGTCAGTGCCGACCTGAA	0.547000														95			15		0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132636673	132636673	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636673C>T	uc001ujz.1	+	13	1403	c.1362C>T	c.(1360-1362)agC>agT	p.S454S		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	454					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding	p.A453S(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		AAGCCGCCAGCGTCATCAACC	0.692000														69			12		0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416403	9416403	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9416403C>T	uc010oae.2	+	1	792	c.453C>T	c.(451-453)caC>caT	p.H151H	SPSB1_uc001apv.3_Silent_p.H151H	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	151	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		GGCTCTACCACGATGGCAAGA	0.592000														173			19		0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79224731	79224731	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79224731C>T	uc021srk.1	-	5	572	c.475G>A	c.(475-477)Gga>Aga	p.G159R	CTSH_uc010unf.1_Non-coding_Transcript	NM_004390	NP_004381	P09668	CATH_HUMAN	Homo sapiens cathepsin H (CTSH), mRNA.	159					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						AGCATCTTTCCGGTTGCGATG	0.622000														93			9		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132043409	132043409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132043409G>A	uc003qcu.4	+	18	1957	c.1610G>A	c.(1609-1611)gGt>gAt	p.G537D	ENPP3_uc003qcv.3_Missense_Mutation_p.G537D|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	537					immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GGAACCCATGGTAGTTTAAAC	0.408000														98			24		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47329321	47329321	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47329321C>T	uc010gqb.3	+	7	655	c.392C>T	c.(391-393)aCg>aTg	p.T131M	PCBP3_uc002zhp.2_Missense_Mutation_p.T131M|PCBP3_uc010gqc.2_Missense_Mutation_p.T131M|PCBP3_uc002zhq.2_Missense_Mutation_p.T131M|PCBP3_uc002zhs.2_Missense_Mutation_p.T131M|PCBP3_uc002zht.2_Missense_Mutation_p.T99M	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	131	KH 2.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCCCCAGTGACGCTGAGGCTG	0.597000														153			51		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784223	151784223	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151784223G>A	uc003luv.2	-	0	618	c.452C>T	c.(451-453)cCg>cTg	p.P151L		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	151					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.P151R(2)|p.H150H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGCGCGGAACGGGTGTAGGAT	0.642000														216			50		0	0	1	0	0
SND1	27044	broad.mit.edu	37	7	127714631	127714631	+	Silent	SNP	C	T	T	rs138799870	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127714631C>T	uc003vmi.3	+	16	2083	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	SND1_uc010lle.3_Silent_p.S272S	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	619	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCAACCTGTCCGTCCTGCTGG	0.617000														68			7		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113538230	113538230	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113538230A>C	uc022blv.1	+	9	1481	c.1347A>C	c.(1345-1347)agA>agC	p.R449S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.R368S|MUSK_uc022blu.1_Missense_Mutation_p.R358S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	449	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCTGTGCCAGACTGCCACATC	0.468000														216			51		0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72308348	72308348	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72308348C>T	uc002jkf.3	+	11	1811	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	DNAI2_uc002jkg.3_Silent_p.A555A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	567					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCAGACGCCATAAAGCTGA	0.607000									Kartagener syndrome					50			7		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129202634	129202634	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129202634C>T	uc010qun.2	+	39	4127	c.4063C>T	c.(4063-4065)Ccc>Tcc	p.P1355S	DOCK1_uc001ljt.3_Missense_Mutation_p.P1334S|DOCK1_uc009yaq.3_Missense_Mutation_p.P329S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1334	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGTGATCAGGCCCAAGCCTGA	0.438000														37			8		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7417442	7417442	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7417442C>A	uc002ghf.4	+	28	6245	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1953	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCAGCCCCACCTACAGTCTCA	0.662000														136			7		8.12818e-05	8.44191e-05	1	1	0
GMPR	2766	broad.mit.edu	37	6	16254937	16254937	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16254937C>T	uc003nbs.3	+	3	550	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	146					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				GAAACTTGTCCGTGCCAAATT	0.448000														169			27		0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004916	36004916	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004916G>A	uc001wth.1	+	0	1669	c.1458G>A	c.(1456-1458)gaG>gaA	p.E486E		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ATATCAGGGAGAAGCACCGGC	0.682000														162			28		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147128543	147128543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128543G>A	uc003ewe.3	+	0	1363	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	215					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCTTCTTCCGCTACATGCGC	0.617000														100			25		0	0	1	0	0
NSUN5	55695	broad.mit.edu	37	7	72721672	72721672	+	Missense_Mutation	SNP	G	A	A	rs137916678	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72721672G>A	uc003txw.3	-	2	376	c.299C>T	c.(298-300)gCg>gTg	p.A100V	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.A100V|NSUN5_uc003txv.3_Missense_Mutation_p.A100V|NSUN5_uc003txx.3_Intron	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	100				A -> P (in Ref. 1; AAL16067).			methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTTGAGCCTCGCCTGGTGCCG	0.597000														39			14		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47324240	47324240	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47324240A>T	uc001wwj.4	-	14	3028	c.2870T>A	c.(2869-2871)aTt>aAt	p.I957N	MDGA2_uc001wwh.4_Missense_Mutation_p.I90N|MDGA2_uc001wwi.4_Missense_Mutation_p.I659N	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	888					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AAATGAAGTAATTGGGTATAT	0.323000														48			8		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121883178	121883178	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121883178G>A	uc001uat.3	-	13	2107	c.2003C>T	c.(2002-2004)gCg>gTg	p.A668V	KDM2B_uc010szy.2_Missense_Mutation_p.A108V|KDM2B_uc001uaq.3_Missense_Mutation_p.A108V|KDM2B_uc001uar.3_Missense_Mutation_p.A259V|KDM2B_uc001uas.3_Missense_Mutation_p.A637V|KDM2B_uc021rfd.1_Missense_Mutation_p.A637V|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.A668V|KDM2B_uc001uao.3_5'Flank|KDM2B_uc010szx.2_5'Flank|KDM2B_uc001uap.3_5'Flank	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	668					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTCCTTCCCCGCCTCGCCACA	0.587000														34			7		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380410	380410	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380410G>A	uc001lpb.3	+	17	2843	c.2834G>A	c.(2833-2835)cGc>cAc	p.R945H		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	945						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGTCATGCGCCTGAGCTGC	0.682000														62			13		0	0	1	0	0
DMRT1	1761	broad.mit.edu	37	9	847106	847106	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:847106G>T	uc003zgv.3	+	1	650	c.501G>T	c.(499-501)caG>caT	p.Q167H	DMRT1_uc003zgu.1_Missense_Mutation_p.Q167H	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	167					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GCACCTCTCAGCCACCGCCGG	0.627000														110			15		1.5739e-10	1.77479e-10	1	1	0
SLC12A1	6557	broad.mit.edu	37	15	48537060	48537060	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48537060C>T	uc001zwn.4	+	10	1627	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*	SLC12A1_uc010uew.1_Nonsense_Mutation_p.R277*|SLC12A1_uc010bem.3_Nonsense_Mutation_p.R471*|SLC12A1_uc001zwq.4_Nonsense_Mutation_p.R242*|SLC12A1_uc001zwr.4_Nonsense_Mutation_p.R198*	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	471					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CTCAAGATGTCGACATGAACC	0.423000														63			6		0	0	1	0	0
MAPK9	5601	broad.mit.edu	37	5	179666973	179666973	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179666973A>T	uc003mls.4	-	9	1282	c.1011T>A	c.(1009-1011)atT>atA	p.I337I	MAPK9_uc003mlv.4_Silent_p.I337I|MAPK9_uc003mlt.4_Silent_p.I337I|MAPK9_uc010jlc.3_Silent_p.I337I|MAPK9_uc021yji.1_Silent_p.I311I|MAPK9_uc021yjj.1_Silent_p.I337I|MAPK9_uc021yjk.1_Silent_p.I337I	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	337					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCATAAATTTGAGGTG	0.338000														89			14		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117052362	117052362	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117052362G>A	uc011lxl.2	+	45	4231	c.4231G>A	c.(4231-4233)Gca>Aca	p.A1411T	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1411	Collagen-like 13.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCAAGGCAAGGCAGGGGCCCC	0.647000														125			29		0	0	1	0	0
NKD1	85407	broad.mit.edu	37	16	50583467	50583467	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50583467G>A	uc002egg.2	+	3	416	c.192_splice	c.e3+1	p.R64_splice		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	64					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AAGCACCCGGGTATGATTCCC	0.652000														42			9		0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84811238	84811238	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84811238C>T	uc010fgb.3	+	14	2482	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	DNAH6_uc002soo.3_Missense_Mutation_p.S361F|DNAH6_uc002sop.3_Missense_Mutation_p.S361F	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	782	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGAAGCCATCCATTGTTGCT	0.398000														182			52		0	0	1	0	0
ATP5B	506	broad.mit.edu	37	12	57032949	57032949	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57032949T>C	uc001slr.3	-	8	1535	c.1430A>G	c.(1429-1431)cAt>cGt	p.H477R	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	477					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCCCCATATGACCTGTGAA	0.468000														209			45		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38038957	38038957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38038957G>A	uc003ati.3	+	4	1078	c.340G>A	c.(340-342)Gag>Aag	p.E114K	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.E114K|SH3BP1_uc003ath.1_Missense_Mutation_p.E114K|SH3BP1_uc003atj.1_Missense_Mutation_p.E50K|SH3BP1_uc003atk.1_Missense_Mutation_p.E28K|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	114	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CATCCTGGCCGAGTTTGAGAT	0.642000											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		160			27		0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112724738	112724738	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112724738G>A	uc001kzl.4	+	1	971	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	SHOC2_uc009xxx.3_Missense_Mutation_p.E208K|SHOC2_uc010qrg.2_Intron|SHOC2_uc001kzn.3_Missense_Mutation_p.E208K	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	208					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		AACTACTGTGGAAAAGGACAT	0.378000														85			19		0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140509464	140509464	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140509464G>A	uc004cnp.2	+	6	1323	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	ARRDC1_uc004cns.3_Intron|ARRDC1_uc004cnx.2_Missense_Mutation_p.A292T			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	319										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		TGAGTCGACAGCCAGGGCTTG	0.637000														159			37		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54659048	54659048	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659048G>T	uc002qdj.2	+	18	2488	c.2164_splice	c.e18-1	p.G722_splice	CNOT3_uc002qdi.3_3'UTR|CNOT3_uc002qdk.2_Splice_Site_p.G722_splice|CNOT3_uc010ere.2_Splice_Site	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	722					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCCGGCCAGGGCACCTACATC	0.592000														40			7		0.0293803	0.0295844	1	1	0
BCLAF1	9774	broad.mit.edu	37	6	136597377	136597377	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136597377C>T	uc003qgx.1	-	4	1539	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R427Q|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R427Q|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	429					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R429W(3)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CTCAGTATTCCGGTGAGATGC	0.403000														370			39		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61497715	61497715	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61497715T>A	uc002jal.4	+	24	4395	c.4372T>A	c.(4372-4374)Tca>Aca	p.S1458T	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.S569T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1458							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATCTCCAGCTCACCTCTTGG	0.607000														99			22		0	0	1	0	0
LOXL4	84171	broad.mit.edu	37	10	100015438	100015438	+	Missense_Mutation	SNP	C	T	T	rs139275517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100015438C>T	uc001kpa.1	-	9	1638	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	496	SRCR 4.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity	p.R496C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCCTGAGCAGCGCACCCCACT	0.662000														227			18		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41746752	41746752	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41746752C>T	uc003ckv.4	-	25	2881	c.2680G>A	c.(2680-2682)Gcc>Acc	p.A894T		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	894							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCACCTATGGCTCCATCTATG	0.284000														82			10		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89038501	89038501	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89038501C>T	uc001xww.3	+	4	588	c.363C>T	c.(361-363)agC>agT	p.S121S	ZC3H14_uc010twd.2_Silent_p.S121S|ZC3H14_uc010twe.2_Silent_p.S121S|ZC3H14_uc001xwx.3_Silent_p.S121S|ZC3H14_uc010twf.2_5'UTR|ZC3H14_uc001xwy.3_Silent_p.S87S|ZC3H14_uc010twg.2_5'Flank	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	121						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						CCATTCCTAGCGCGAGACCTG	0.488000														92			27		0	0	1	0	0
MYBL2	4605	broad.mit.edu	37	20	42328479	42328479	+	Missense_Mutation	SNP	C	T	T	rs142211101	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42328479C>T	uc002xlb.1	+	6	961	c.746C>T	c.(745-747)aCc>aTc	p.T249I	MYBL2_uc010zwj.1_Missense_Mutation_p.T225I	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	249						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GCAGCAGCCACCACATCGAAG	0.552000														87			6		0	0	1	0	0
TMEM48	55706	broad.mit.edu	37	1	54291547	54291547	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54291547C>A	uc001cvs.3	-	4	809	c.518G>T	c.(517-519)gGa>gTa	p.G173V	TMEM48_uc010onu.2_Missense_Mutation_p.G133V|TMEM48_uc001cvt.3_Missense_Mutation_p.G50V|TMEM48_uc009vzk.3_Non-coding_Transcript|TMEM48_uc010onv.2_5'UTR	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	173					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						CATAAATGCTCCAGTCAGTAG	0.368000														95			21		7.41877e-09	8.17068e-09	1	1	0
SOX30	11063	broad.mit.edu	37	5	157065339	157065339	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157065339C>T	uc003lxb.1	-	3	2121	c.1779G>A	c.(1777-1779)caG>caA	p.Q593Q	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.Q288Q	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	593	Pro-rich.				regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGAGGGGGCTGGTAGACAT	0.557000														97			10		0	0	1	0	0
ATAD3A	55210	broad.mit.edu	37	1	1458924	1458924	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1458924G>A	uc001afz.2	+	8	1210	c.1084G>A	c.(1084-1086)Gcg>Acg	p.A362T	ATAD3A_uc001aga.2_Missense_Mutation_p.A314T|ATAD3A_uc001agb.2_Missense_Mutation_p.A235T	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	362							ATP binding|nucleoside-triphosphatase activity|protein binding	p.A362V(1)		endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		ACCCCAGGACGCGCTGGAGGG	0.711000														68			18		0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190593005	190593005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190593005G>A	uc002uqw.2	+	13	2978	c.2890G>A	c.(2890-2892)Gat>Aat	p.D964N	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Missense_Mutation_p.D60N	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	964						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATTTCAAATAGATGTTAAGGA	0.284000														44			16		0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885340	50885340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885340G>A	uc010ona.2	-	1	722	c.626C>T	c.(625-627)cCg>cTg	p.P209L	DMRTA2_uc010onb.2_Missense_Mutation_p.P209L	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	209	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						CGGCGGCAGCGGGCTGCCCGG	0.687000														23			7		0	0	1	0	0
WASF3	10810	broad.mit.edu	37	13	27255212	27255212	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27255212G>A	uc001uqv.3	+	7	963	c.738G>A	c.(736-738)acG>acA	p.T246T	WASF3_uc001uqw.3_Silent_p.T243T	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	246					actin filament polymerization	cytoplasm|cytoskeleton	actin binding	p.V245I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CGGACGTTACGGATTACTCTT	0.498000														260			56		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072986	9072986	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9072986A>G	uc002mkp.3	-	2	14664	c.14460T>C	c.(14458-14460)gaT>gaC	p.D4820D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4822	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						TTGTCTCTATATCTGTGGTGG	0.463000														80			15		0	0	1	0	0
THOC2	57187	broad.mit.edu	37	X	122755365	122755365	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122755365C>A	uc004etu.3	-	30	3891	c.3859G>T	c.(3859-3861)Gct>Tct	p.A1287S	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Missense_Mutation_p.A108S	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1287	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						GGAGTAGTAGCTGGAGtcttt	0.358000														68			27		5.61819e-17	6.72451e-17	1	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81608455	81608455	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81608455T>C	uc003khv.3	+	8	1482	c.157T>C	c.(157-159)Ttg>Ctg	p.L53L	ATP6AP1L_uc003khw.3_Silent_p.L53L	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	53					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTACAACAAGTTGTCCATCCA	0.418000											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		213			56		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036989	75036989	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75036989C>A	uc001dgg.3	-	13	4624	c.4405G>T	c.(4405-4407)Gga>Tga	p.G1469*		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1469	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCAGCTGCTCCTGTCTCCTGC	0.582000														288			69		1.7104e-27	2.14325e-27	1	1	0
LRRC14	9684	broad.mit.edu	37	8	145746029	145746029	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145746029G>A	uc003zdk.2	+	2	911	c.737G>A	c.(736-738)cGc>cAc	p.R246H	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R246H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	246										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACGTGGCCCGCTTCCAGCAC	0.642000														196			35		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139907734	139907734	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139907734G>A	uc004ckm.1	-	29	4724	c.4674C>T	c.(4672-4674)ctC>ctT	p.L1558L	ABCA2_uc022bpy.1_Silent_p.L1459L|ABCA2_uc022bpz.1_Silent_p.L1529L|ABCA2_uc011mem.1_Silent_p.L1528L|ABCA2_uc004ckl.1_Silent_p.L1459L|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1528					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACGTGCTCACGAGCTGCTGGG	0.736000														39			9		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49204705	49204705	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:49204705G>T	uc001ngy.3	-	6	1177	c.916C>A	c.(916-918)Cta>Ata	p.L306I	FOLH1_uc009yly.3_Missense_Mutation_p.L291I|FOLH1_uc009ylz.3_Missense_Mutation_p.L291I|FOLH1_uc001ngz.3_Missense_Mutation_p.L306I|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	306	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACTTACTCTAGGAGCTTCTGT	0.348000														66			7		1.06961e-07	1.15953e-07	1	1	0
FLRT1	23769	broad.mit.edu	37	11	63884481	63884481	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63884481C>T	uc021qks.1	+	0	742	c.742C>T	c.(742-744)Cag>Tag	p.Q248*	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Nonsense_Mutation_p.Q248*	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	220					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CAGCCGCCTACAGAACCTCAC	0.652000														73			23		0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117862951	117862951	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117862951G>A	uc003yod.3	-	11	1814	c.1526C>T	c.(1525-1527)cCt>cTt	p.P509L		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	509	Pro-rich.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					GATATTTGGAGGTTCTTCTGG	0.383000														113			18		0	0	1	0	0
FAM20B	9917	broad.mit.edu	37	1	179033100	179033100	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179033100C>T	uc001gmc.3	+	4	906	c.613C>T	c.(613-615)Cga>Tga	p.R205*		NM_014864	NP_055679	O75063	XYLK_HUMAN	Homo sapiens family with sequence similarity 20, member B (FAM20B), mRNA.	205						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						CTATTACTGCCGAGAAACAGA	0.458000														190			10		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44153526	44153526	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153526C>T	uc003tkb.3	+	20	3448	c.3143C>T	c.(3142-3144)aCt>aTt	p.T1048I	AEBP1_uc003tkc.4_Missense_Mutation_p.T623I|AEBP1_uc003tkd.3_Missense_Mutation_p.T298I	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1048	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GGCCCCCACACTGTGCCTCCC	0.701000														117			17		0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22964203	22964203	+	Nonsense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22964203A>T	uc001bfy.3	+	1	179	c.94A>T	c.(94-96)Aag>Tag	p.K32*		NM_015991	NP_057075	P02745	C1QA_HUMAN	Homo sapiens complement component 1, q subcomponent, A chain (C1QA), mRNA.	32	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCAGACGGGAAGAAAGGGGA	0.662000														44			9		0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186545525	186545525	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186545525G>A	uc003iyg.3	-	12	1420	c.1388C>T	c.(1387-1389)cCa>cTa	p.P463L	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.P449L|SORBS2_uc003iyl.3_Missense_Mutation_p.P349L|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.P253L|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.	349						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)		AATGGCTCTTGGTGAGTCCCG	0.522000														124			12		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168461613	168461613	+	Silent	SNP	G	A	A	rs143590279		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168461613G>A	uc003qwo.4	-	8	1235	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	FRMD1_uc003qwm.4_Silent_p.A184A|FRMD1_uc011egs.2_Silent_p.A161A|FRMD1_uc011egt.2_Silent_p.A325A|FRMD1_uc003qwn.4_Silent_p.A322A	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	390						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CGTGGCTGTCGGCGGAGTGGC	0.642000														150			20		0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32917607	32917607	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32917607G>A	uc002kyt.2	-	3	853	c.696C>T	c.(694-696)acC>acT	p.T232T	ZNF24_uc002kys.2_Silent_p.T232T	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	232					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TGGGGAAACAGGTTTCTCCAT	0.433000														135			31		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880187	121880187	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880187C>T	uc001uat.3	-	18	3161	c.3057G>A	c.(3055-3057)ccG>ccA	p.P1019P	KDM2B_uc010szy.2_Silent_p.P459P|KDM2B_uc001uaq.3_Silent_p.P459P|KDM2B_uc001uar.3_Silent_p.P610P|KDM2B_uc001uas.3_Silent_p.P950P|KDM2B_uc021rfd.1_Silent_p.P950P|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Silent_p.P1019P|KDM2B_uc001uao.3_Silent_p.P267P|KDM2B_uc010szx.2_Silent_p.P267P|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1019	Pro-rich.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TGACACGGGGCGGGCTGCGCA	0.741000														43			6		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184930594	184930594	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184930594C>T	uc003ivz.1	+	2	2038	c.603C>T	c.(601-603)tgC>tgT	p.C201C	STOX2_uc003iwa.1_5'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	201					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CTTGCCACTGCTGCAGAGAAG	0.602000														153			12		0	0	1	0	0
UTF1	8433	broad.mit.edu	37	10	135044157	135044157	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135044157A>G	uc001lmc.3	+	0	380	c.365A>G	c.(364-366)aAa>aGa	p.K122R		NM_003577	NP_003568	Q5T230	UTF1_HUMAN	Homo sapiens undifferentiated embryonic cell transcription factor 1 (UTF1), mRNA.	122	Pro-rich.				male gonad development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)	1		all_cancers(35;3.05e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AAGTTCCTTAAAGACAAGTTT	0.721000														16			4		0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808505	18808505	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18808505G>A	uc001bax.3	+	0	1082	c.1030G>A	c.(1030-1032)Gaa>Aaa	p.E344K	KLHDC7A_uc009vpg.3_Missense_Mutation_p.E126K	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	344						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTGCAGCCGAAAGAGCCGC	0.672000														73			6		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232650199	232650199	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232650199C>T	uc001hvg.3	-	0	1045	c.887G>A	c.(886-888)cGa>cAa	p.R296Q		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	296					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)				TTTAACAGTTCGAAGCTTTCG	0.502000														122			23		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42643106	42643106	+	Missense_Mutation	SNP	C	T	T	rs145996171	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42643106C>T	uc010dni.3	+	5	4530	c.4234C>T	c.(4234-4236)Cgg>Tgg	p.R1412W		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1412						nucleus	DNA binding	p.D1411N(1)		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)		GTGCGAAGTGCGGAAGATGTG	0.532000									Schinzel-Giedion syndrome					99			23		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67578324	67578324	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67578324G>A	uc010vjp.2	+	14	2969	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	FAM65A_uc002eth.3_Missense_Mutation_p.R908H|FAM65A_uc010cej.3_Missense_Mutation_p.R912H|FAM65A_uc010vjq.2_Missense_Mutation_p.R922H|FAM65A_uc002etk.3_Missense_Mutation_p.R906H	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	912						cytoplasm	binding	p.R908H(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CACTGCAGTCGCCTCCTGCTG	0.627000														231			48		0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57566038	57566038	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57566038G>A	uc002yag.3	+	7	916	c.889G>A	c.(889-891)Ggg>Agg	p.G297R	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	297					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			CCAGGCTCTCGGGGCCATGCT	0.562000														192			59		0	0	1	0	0
C5orf51	285636	broad.mit.edu	37	5	41912217	41912217	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41912217G>A	uc003jmo.3	+	4	533	c.533G>A	c.(532-534)cGa>cAa	p.R178Q		NM_175921	NP_787117	A6NDU8	CE051_HUMAN	Homo sapiens chromosome 5 open reading frame 51 (C5orf51), mRNA.	178										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTAAATTATCGATGTCCTATC	0.328000														132			17		0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97220650	97220650	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97220650C>T	uc004aur.3	+	10	1442	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	HIATL1_uc011luh.2_Missense_Mutation_p.P294S	NM_032558	NP_115947	Q5SR56	HIAL1_HUMAN	Homo sapiens hippocampus abundant transcript-like 1 (HIATL1), mRNA.	391					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TATGCAATGGCCTGGGGCCAG	0.448000														140			22		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241697877	241697877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241697877C>T	uc010fzk.3	-	25	2729	c.2482G>A	c.(2482-2484)Gct>Act	p.A828T	KIF1A_uc002vzy.3_Missense_Mutation_p.A819T|KIF1A_uc002vzz.2_Missense_Mutation_p.A828T	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	819					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ACCTCTGCAGCGCGGTCGTAC	0.662000														47			9		0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218335	134218335	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134218335G>A	uc001lll.4	+	1	360	c.331G>A	c.(331-333)Gcc>Acc	p.A111T	PWWP2B_uc009ybe.3_Missense_Mutation_p.A111T	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	111	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		GCCGCTGCCCGCCGGAAGCCT	0.756000														32			11		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753347	42753347	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753347C>A	uc002ote.4	-	3	1075	c.917G>T	c.(916-918)aGc>aTc	p.S306I	ERF_uc002otd.4_Missense_Mutation_p.S37I	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	306					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GTCCTCAGGGCTGAAGGAGAA	0.667000														78			14		2.31682e-05	2.42268e-05	1	1	0
FLCN	201163	broad.mit.edu	37	17	17124912	17124912	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17124912G>A	uc002gra.4	-	7	1314	c.810C>T	c.(808-810)acC>acT	p.T270T	PLD6_uc010cpn.3_Intron|FLCN_uc002grb.4_Silent_p.T270T	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	270					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGAGCTTCTCGGTCAGCCGGC	0.622000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					108			25		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114018494	114018494	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114018494G>A	uc003ebg.2	+	2	1197	c.442G>A	c.(442-444)Gcg>Acg	p.A148T		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	148					negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.A147A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						AGCCATGGCCGCGACGCTGGT	0.582000														90			19		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96691710	96691710	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96691710C>A	uc002svf.3	-	11	1429	c.1206G>T	c.(1204-1206)gaG>gaT	p.E402D	GPAT2_uc002sve.3_Missense_Mutation_p.E204D|GPAT2_uc002svd.3_Missense_Mutation_p.E215D|GPAT2_uc002svg.3_Missense_Mutation_p.E275D|GPAT2_uc010yuh.2_Missense_Mutation_p.E331D|GPAT2_uc002svh.3_Missense_Mutation_p.E402D	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	402					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCAGTAGCTGCTCCAGGGTCT	0.617000														108			21		6.44725e-10	7.21145e-10	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113352444	113352444	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352444A>C	uc003ian.4	+	10	1968	c.1741A>C	c.(1741-1743)Agt>Cgt	p.S581R	ALPK1_uc003iap.4_Missense_Mutation_p.S581R|ALPK1_uc011cfx.2_Missense_Mutation_p.S503R|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S409R	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	581							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCAGACTTCCAGTGCTTGGAG	0.502000														119			22		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074947	54074947	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54074947C>T	uc002qbx.1	+	5	1533	c.99C>T	c.(97-99)gaC>gaT	p.D33D	ZNF331_uc002qby.1_Silent_p.D33D|ZNF331_uc002qbz.1_Silent_p.D33D|ZNF331_uc010eqr.1_Silent_p.D33D|ZNF331_uc002qca.1_Silent_p.D33D|ZNF331_uc021uzg.1_Silent_p.D33D|ZNF331_uc021uzh.1_Silent_p.D33D|ZNF331_uc002qcb.1_Silent_p.D33D|ZNF331_uc002qcc.1_Silent_p.D33D|ZNF331_uc002qcd.1_Silent_p.D33D	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	33	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTACTGGGACGTGATGCTGG	0.522000			T	?	follicular thyroid adenoma									317			63		0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29284866	29284866	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29284866G>A	uc010csk.3	+	10	1422	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	ADAP2_uc002hfy.3_Silent_p.E374E|ADAP2_uc010csl.3_Non-coding_Transcript|ADAP2_uc002hfx.3_Silent_p.E375E	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN	Homo sapiens ArfGAP with dual PH domains 2 (ADAP2), mRNA.	375					heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CATCAACAGAGAGTGGCCGCA	0.582000														38			12		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151125824	151125824	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151125824G>A	uc011eem.1	+	6	1124	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	PLEKHG1_uc011eel.1_Missense_Mutation_p.A327T|PLEKHG1_uc003qny.1_Missense_Mutation_p.A287T|PLEKHG1_uc003qnz.2_Missense_Mutation_p.A287T	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	287	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.A287T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GCAGCGAGTCGCCTGGCATAT	0.517000														92			27		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62775384	62775384	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62775384C>T	uc001src.2	+	8	1104	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	USP15_uc001srb.2_Silent_p.A314A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	343					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AATCTTATGCCGAACTGATCA	0.403000														94			19		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33874450	33874450	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33874450C>A	uc021wck.1	-	3	2250	c.2132G>T	c.(2131-2133)aGt>aTt	p.S711I	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.S366I	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	711										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCAGGTCACTGTTACCACC	0.562000														190			41		1.22674e-20	1.49977e-20	1	1	0
WFS1	7466	broad.mit.edu	37	4	6302625	6302625	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6302625G>T	uc003giy.3	+	7	1269	c.1103G>T	c.(1102-1104)aGc>aTc	p.S368I	WFS1_uc003gix.3_Missense_Mutation_p.S368I|WFS1_uc003giz.3_Missense_Mutation_p.S186I	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	368					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCAGGACAGCAAGGCCTGG	0.582000														243			54		3.31993e-32	4.19028e-32	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107706353	107706353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107706353C>T	uc010ljo.1	-	20	2774	c.2690G>A	c.(2689-2691)gGt>gAt	p.G897D	LAMB4_uc003vey.2_Missense_Mutation_p.G897D|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	897	Laminin EGF-like 8.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCCATAGTAACCATCAATACA	0.418000														118			24		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48134179	48134179	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48134179C>A	uc001rpz.4	-	22	2782	c.2232_splice	c.e22-1	p.H744_splice	AL831948_uc001rpv.3_Non-coding_Transcript|RAPGEF3_uc001rpw.3_Splice_Site_p.H37_splice|RAPGEF3_uc001rpx.3_Splice_Site_p.H159_splice|RAPGEF3_uc010sln.2_Intron|RAPGEF3_uc001rpy.3_Splice_Site|RAPGEF3_uc009zkp.3_Splice_Site_p.H702_splice|RAPGEF3_uc009zkq.3_Splice_Site_p.H702_splice	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	702					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTCCTTGAGGCTGTGAGCAGA	0.582000														91			22		8.10497e-08	8.79904e-08	1	1	0
DNAJA2	10294	broad.mit.edu	37	16	47001552	47001552	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47001552G>A	uc002eeo.2	-	4	592	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	150					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CAGACTTTCCGCCTTGGCTAA	0.463000														200			49		0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169548369	169548369	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169548369C>A	uc003fgb.3	+	2	1284	c.1284C>A	c.(1282-1284)tgC>tgA	p.C428*		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	428										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTCTTGATTGCCGGCACAATT	0.438000														28			7		2.0095e-06	2.13635e-06	1	1	0
C16orf70	80262	broad.mit.edu	37	16	67154021	67154021	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67154021C>T	uc002erd.3	+	1	235	c.71C>T	c.(70-72)cCt>cTt	p.P24L	C16orf70_uc002erc.3_Missense_Mutation_p.P24L|C16orf70_uc002ere.1_Missense_Mutation_p.P2L	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	24										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		TCAGGAATGCCTCTGGCTCAG	0.458000														130			26		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005738	40005738	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40005738T>G	uc001zki.3	-	9	1313	c.1095A>C	c.(1093-1095)ggA>ggC	p.G365G		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	365										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GTATCTTTTCTCCTGGAGTTA	0.378000														203			41		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1112468	1112468	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112468G>A	uc002lrk.4	-	20	2686	c.2448C>T	c.(2446-2448)aaC>aaT	p.N816N	SBNO2_uc002lrj.4_Silent_p.N759N|SBNO2_uc010dse.3_Silent_p.N799N	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	816					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGCCGCTGGTTCTGGACAC	0.706000														32			4		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8555099	8555099	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555099T>G	uc002mkd.3	-	9	2050	c.1987A>C	c.(1987-1989)Aac>Cac	p.N663H		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	711	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGTGGTTGGTTTTCCAGGGGA	0.687000														35			7		0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150307598	150307598	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150307598C>T	uc001eum.4	+	6	1083	c.921C>T	c.(919-921)tcC>tcT	p.S307S	PRPF3_uc009wlp.2_Non-coding_Transcript|PRPF3_uc010pca.2_Silent_p.S266S|PRPF3_uc010pcb.2_Silent_p.S258S|PRPF3_uc009wlq.1_Non-coding_Transcript	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	307					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		ACATGGAATCCAATACCTTTT	0.463000														91			5		0	0	1	0	0
RECQL	5965	broad.mit.edu	37	12	21624421	21624421	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21624421T>C	uc001rex.3	-	13	1956	c.1608A>G	c.(1606-1608)acA>acG	p.T536T	RECQL_uc001rey.3_Silent_p.T536T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	536					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CACGAGGAAGTGTGGGAGCCA	0.398000								Other identified genes with known or suspected DNA repair function						121			29		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092376	30092376	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30092376T>C	uc010dmc.3	+	0		c.751T>C								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TGGGACGTGGTGTTCCACATT	0.567000														96			15		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77244750	77244750	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77244750C>A	uc004ecx.4	+	3	792	c.632C>A	c.(631-633)gCt>gAt	p.A211D	ATP7A_uc004ecw.2_Missense_Mutation_p.A211D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	211	HMA 2.				ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATCAAGAAGCTACTATTGTT	0.338000														66			20		2.4624e-09	2.73094e-09	1	1	0
C18orf21	83608	broad.mit.edu	37	18	33557545	33557545	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33557545G>A	uc002kzc.3	+	3	577	c.473G>A	c.(472-474)aGc>aAc	p.S158N	C18orf21_uc002kzd.3_Missense_Mutation_p.S70N|C18orf21_uc021uit.1_Intron|C18orf21_uc021uiu.1_Missense_Mutation_p.S70N	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	158								p.S158R(1)		endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						AAAGGCAAGAGCCCAGCATCG	0.413000														100			27		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14022092	14022092	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14022092G>T	uc002dce.2	+	4	801	c.792_splice	c.e4+1	p.K264_splice	ERCC4_uc010bva.3_Splice_Site_p.K264_splice	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	264					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CTTTTGACAAGGTACTCTTTT	0.284000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					55			14		1.5842e-08	1.73923e-08	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263870	34263870	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263870G>A	uc002nus.4	+	4	1682	c.1177G>A	c.(1177-1179)Gcc>Acc	p.A393T	CHST8_uc002nut.4_Missense_Mutation_p.A393T|CHST8_uc002nuu.3_Missense_Mutation_p.A393T	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	393					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CCAGTACTTCGCCCAACTCTC	0.602000														98			30		0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149866864	149866864	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149866864C>T	uc010zbu.2	+	24	3162	c.2767_splice	c.e24+1	p.A923_splice	KIF5C_uc002tws.1_Splice_Site|KIF5C_uc002twu.1_Splice_Site_p.A205_splice	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	923	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGCCCAGATCGGTACGTGCG	0.607000														15			9		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145635402	145635402	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145635402C>T	uc003ijs.2	+	8	2129	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	483						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TTTTAGAATTCAAGCCATTCA	0.378000														51			13		0	0	1	0	0
HOXB9	3219	broad.mit.edu	37	17	46703204	46703204	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46703204C>A	uc002inx.3	-	0	632	c.428G>T	c.(427-429)gGc>gTc	p.G143V		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	143					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A142A(1)		breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GGCCTCCCTGCCCGCCGAAGT	0.602000														92			21		8.10497e-08	8.79904e-08	1	1	0
ZNF117	51351	broad.mit.edu	37	7	64438880	64438880	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64438880C>T	uc003ttr.2	-	3	2354	c.1069G>A	c.(1069-1071)Gga>Aga	p.G357R		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	357						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GGTTTCTCTCCAGTATGAATT	0.388000														90			18		0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3300833	3300833	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3300833C>A	uc002fvj.1	-	0	872	c.872G>T	c.(871-873)aGc>aTc	p.S291I		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GTTCCTCAGGCTGTAGATGAA	0.443000														84			25		1.1804e-14	1.38988e-14	1	1	0
ZNF28	7576	broad.mit.edu	37	19	53304225	53304225	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304225C>T	uc002qad.3	-	3	1030	c.873G>A	c.(871-873)gcG>gcA	p.A291A	ZNF28_uc002qac.3_Silent_p.A237A|ZNF28_uc010eqe.3_Silent_p.A237A|ZNF28_uc021uza.1_Silent_p.A238A	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		CAGTATGAAGCGCCTTGTGAA	0.398000														135			25		0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33202821	33202821	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33202821C>T	uc010edf.3	+	2	1086	c.1086C>T	c.(1084-1086)caC>caT	p.H362H		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	362						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					AGTATAAACACGTTTATCCTA	0.408000														142			34		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51900516	51900516	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51900516C>A	uc003pah.1	-	27	3377	c.3101G>T	c.(3100-3102)gGg>gTg	p.G1034V	PKHD1_uc003pai.3_Missense_Mutation_p.G1034V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1034	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCCCAGAGCCCTCCTGTAAC	0.398000														91			15		4.93089e-13	5.72934e-13	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114476770	114476770	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114476770C>A	uc002tku.1	-	13	1871	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	SLC35F5_uc002tkt.3_Non-coding_Transcript	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	486					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AGCAAATATTCTTCTGATTCC	0.313000														74			8		1.76689e-08	1.93511e-08	1	1	0
FAM75C2	645961	broad.mit.edu	37	9	90746806	90746806	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90746806C>T	uc011lti.2	-	3	1175	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	382																	CTTTATTCTGCGACGCAGGGC	0.517000														342			78		0	0	1	0	0
C4orf27	54969	broad.mit.edu	37	4	170671837	170671837	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170671837G>A	uc003isl.4	-	2	313	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_017867	NP_060337	Q9NWY4	CD027_HUMAN	Homo sapiens chromosome 4 open reading frame 27 (C4orf27), mRNA.	83						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GATATCATAAGGACCAACTAA	0.348000														156			22		0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73476192	73476192	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73476192C>T	uc002siz.3	+	7	1000	c.857C>T	c.(856-858)gCc>gTc	p.A286V	CCT7_uc010yrf.2_Missense_Mutation_p.A242V|CCT7_uc010yrh.2_Missense_Mutation_p.A158V|CCT7_uc010yrg.2_Missense_Mutation_p.A186V|CCT7_uc010yri.2_Missense_Mutation_p.A199V|CCT7_uc002sja.3_Missense_Mutation_p.A82V	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	286					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CATTCTGGAGCCAAAGTTGTC	0.483000														98			7		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387061	6387061	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6387061C>T	uc002gdd.4	-	5	514	c.363G>A	c.(361-363)ccG>ccA	p.P121P	PITPNM3_uc010cln.3_Silent_p.P85P|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	121					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AGGAGCGCTGCGGGCAGCCTT	0.637000														126			25		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67522730	67522730	+	Missense_Mutation	SNP	G	A	A	rs146595343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67522730G>A	uc002jij.3	+	9	1049	c.761G>A	c.(760-762)cGa>cAa	p.R254Q		NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	254	Protein kinase.				DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R254L(2)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					GCCATCCTTCGATTTCCCTAT	0.463000														108			16		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149377	41149377	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41149377G>T	uc003jmk.2	-	16	2799	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	C6_uc003jml.1_Silent_p.G863G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	863	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AGGTGTCATAGCCACAGGATT	0.428000														258			58		6.4685e-43	8.2336e-43	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20430652	20430652	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20430652C>T	uc002dhe.3	+	3	665	c.518C>T	c.(517-519)gCt>gTt	p.A173V	ACSM5_uc002dhd.1_Missense_Mutation_p.A173V	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	173					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						GACTCCCTAGCTCCAAGGGTG	0.582000														111			27		0	0	1	0	0
TM4SF18	116441	broad.mit.edu	37	3	149042779	149042779	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149042779C>T	uc021xfl.1	-	2	388	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TM4SF18_uc003exa.3_Missense_Mutation_p.G100R	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	100						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGCAATTCCGAGGGAAGAA	0.438000														52			13		0	0	1	0	0
RSAD2	91543	broad.mit.edu	37	2	7027154	7027154	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7027154C>T	uc002qyp.1	+	2	733	c.597C>T	c.(595-597)aaC>aaT	p.N199N		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	199					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		GAAAGAAGAACCATGTGGAAA	0.438000														84			20		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64727439	64727439	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64727439C>T	uc001xha.1	-	4	1148	c.680G>A	c.(679-681)cGc>cAc	p.R227H	ESR2_uc001xgy.2_Missense_Mutation_p.R227H|ESR2_uc001xgu.3_Missense_Mutation_p.R227H|ESR2_uc001xgv.3_Missense_Mutation_p.R227H|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.R227H|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.R227H|ESR2_uc001xgz.2_Missense_Mutation_p.R227H|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	227	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.R227L(3)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCGCACAAGGCGGTACCCACA	0.587000														120			31		0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5021052	5021052	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5021052G>A	uc001qnh.3	+	1	1613	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	KCNA1_uc021qts.1_Missense_Mutation_p.A170T	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	170					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	p.A170T(2)		NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGGGTCATCGCCATCGTCTC	0.622000														232			25		0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713042	42713042	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42713042G>A	uc003osl.3	-	0	843	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_003192	NP_003183	Q15814	TBCC_HUMAN	Homo sapiens tubulin folding cofactor C (TBCC), mRNA.	257	C-CAP/cofactor C-like.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	GTPase activity|chaperone binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CTGTTGGCAGGCCACTGCCAG	0.612000														123			18		0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15508540	15508540	+	Silent	SNP	C	T	T	rs79796304	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15508540C>T	uc002naw.1	-	9	1383	c.1284G>A	c.(1282-1284)acG>acA	p.T428T	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Silent_p.T367T	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	428						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						GAAAGTCAGCCGTCTGCTTAG	0.502000														131			14		0	0	1	0	0
PPARA	5465	broad.mit.edu	37	22	46614253	46614253	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46614253T>C	uc003bhb.1	+	3	586	c.463T>C	c.(463-465)Tat>Cat	p.Y155H	PPARA_uc003bgw.1_Missense_Mutation_p.Y155H|PPARA_uc003bgx.1_Missense_Mutation_p.Y155H|PPARA_uc010hab.1_Missense_Mutation_p.Y155H|PPARA_uc003bha.3_Missense_Mutation_p.Y155H|PPARA_uc010hac.1_Silent_p.S19S	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	155					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	CAAATGCCAGTATTGTCGATT	0.498000														196			41		0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22140961	22140961	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22140961G>A	uc001bfg.1	+	1	343	c.156G>A	c.(154-156)tcG>tcA	p.S52S		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	52						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACGCCGCATCGCGCAGGTTCT	0.706000														81			33		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200978481	200978481	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200978481C>A	uc001gvs.2	-	1	494	c.177G>T	c.(175-177)tgG>tgT	p.W59C	KIF21B_uc009wzl.2_Missense_Mutation_p.W59C|KIF21B_uc001gvr.2_Missense_Mutation_p.W59C|KIF21B_uc010ppn.2_Missense_Mutation_p.W59C	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	59	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCTGTTCTTGCCAGGTGTCCA	0.562000														92			26		3.01185e-09	3.33505e-09	1	1	0
RPA1	6117	broad.mit.edu	37	17	1780550	1780550	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1780550C>T	uc002fto.2	+	7	747	c.632C>T	c.(631-633)aCc>aTc	p.T211I		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	211					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						CAGATCCGTACCTGGAGCAAC	0.493000								Nucleotide excision repair (NER)						68			15		0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60705372	60705372	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60705372C>T	uc001nqn.2	-	6	1795	c.1561G>A	c.(1561-1563)Ggg>Agg	p.G521R	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	521					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCAGCCCCCGGGCAAGGAC	0.637000														73			17		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5014837	5014837	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5014837C>T	uc001iho.3	+	11	1583	c.742C>T	c.(742-744)Cac>Tac	p.H248Y	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.H248Y	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	248					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGCAAAAAAGCACAAGCGAAC	0.597000														155			33		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34081331	34081331	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34081331G>A	uc021wco.1	+	22	3612	c.2965G>A	c.(2965-2967)Gat>Aat	p.D989N	CEP250_uc010zve.2_Missense_Mutation_p.D357N	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	989	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCAGCACAGAGATGACCTTGC	0.577000														183			52		0	0	1	0	0
TNFRSF13C	115650	broad.mit.edu	37	22	42321490	42321490	+	Missense_Mutation	SNP	G	T	T	rs151243201	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42321490G>T	uc010gyp.1	-	2	483	c.439C>A	c.(439-441)Cct>Act	p.P147T	bK250D10.C22.8_uc003bba.1_Intron|TNFRSF13C_uc003bbl.2_Missense_Mutation_p.P146T	NM_052945	NP_443177	Q96RJ3	TR13C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13C (TNFRSF13C), mRNA.	146						integral to membrane	receptor activity			lung(2)|urinary_tract(1)	3						CCAGGAGGAGGCCAGGCAGGA	0.637000														133			11		9.31168e-06	9.81217e-06	1	1	0
ATAD3A	55210	broad.mit.edu	37	1	1455928	1455928	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1455928G>A	uc001afz.2	+	7	951	c.825_splice	c.e7-1	p.R275_splice	ATAD3A_uc001aga.2_Splice_Site_p.R227_splice|ATAD3A_uc001agb.2_Splice_Site_p.R148_splice	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	275							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		TTCCCCGCAGGACGGCTGGCA	0.587000														146			46		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709091	77709091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709091C>T	uc002jxa.3	+	2	669	c.649C>T	c.(649-651)Cgg>Tgg	p.R217W		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	217					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGAGATGGTGCGGCAGGTGGA	0.657000														108			33		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141215049	141215049	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141215049G>T	uc002tvj.1	-	60	10769	c.9797C>A	c.(9796-9798)tCt>tAt	p.S3266Y		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3266					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TTGTCTATAAGAATGATACAC	0.363000										TSP Lung(27;0.18)				109			40		2.24893e-16	2.68234e-16	1	1	0
APH1A	51107	broad.mit.edu	37	1	150240131	150240131	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150240131G>A	uc001ety.2	-	2	742	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	APH1A_uc001etz.2_Missense_Mutation_p.R115C|APH1A_uc010pbx.2_Intron|APH1A_uc010pby.2_Missense_Mutation_p.R58C|APH1A_uc010pbz.2_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	115					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCATCTGGCGGATGGAGATG	0.582000														38			10		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710412	18710412	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710412G>A	uc010ebt.2	-	1	554	c.360C>T	c.(358-360)gaC>gaT	p.D120D		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	120	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.R119H(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGCTGCCGTCACGGGCGT	0.647000														95			27		0	0	1	0	0
ZNF764	92595	broad.mit.edu	37	16	30567266	30567266	+	Missense_Mutation	SNP	C	T	T	rs142253089		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567266C>T	uc002dyq.3	-	2	615	c.476G>A	c.(475-477)cGc>cAc	p.R159H	ZNF764_uc002dyr.2_Missense_Mutation_p.R158H	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GAGGGAGGGGCGTCCCCGGTG	0.701000														87			7		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321942	52321942	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52321942C>T	uc003xqu.4	-	16	2343	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	748					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)				CGCGCGAAGGCGGTCAGCGCC	0.736000														69			11		0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62164956	62164956	+	Silent	SNP	G	A	A	rs61736391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62164956G>A	uc002yfg.3	-	3	658	c.618C>T	c.(616-618)ttC>ttT	p.F206F	PTK6_uc011aay.2_Silent_p.F105F|PTK6_uc011aaz.1_5'Flank	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	206	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)			AGAGCCCCTCGAAGACCTCCC	0.647000														210			43		0	0	1	0	0
C3orf75	54859	broad.mit.edu	37	3	47545887	47545887	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47545887C>A	uc003crk.3	-	3	375	c.256G>T	c.(256-258)Gga>Tga	p.G86*	C3orf75_uc011bba.2_Nonsense_Mutation_p.G37*|C3orf75_uc003crl.1_Nonsense_Mutation_p.G86*	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	Homo sapiens chromosome 3 open reading frame 75 (C3orf75), mRNA.	86										endometrium(2)|large_intestine(1)|lung(2)	5						GACTTGAGTCCCTCAAGGAAC	0.562000														105			20		5.03518e-11	5.70985e-11	1	1	0
MYEOV2	150678	broad.mit.edu	37	2	241073376	241073376	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241073376T>G	uc002vyu.1	-	1	203	c.203A>C	c.(202-204)aAg>aCg	p.K68T	MYEOV2_uc010zof.1_Missense_Mutation_p.K37T	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	37										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		ATGAACGGCCTTTTCATTGGC	0.483000														191			28		0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70252875	70252875	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252875G>T	uc001xlr.2	-	1	640	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	169					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		TATGGTGCAAGGAATGAGAAC	0.493000														126			31		1.08312e-15	1.2841e-15	1	1	0
STOX1	219736	broad.mit.edu	37	10	70644062	70644062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70644062G>A	uc001jos.2	+	2	597	c.510G>A	c.(508-510)acG>acA	p.T170T	STOX1_uc001joq.3_Silent_p.T60T|STOX1_uc001jor.3_Silent_p.T170T|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Silent_p.T60T	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	170						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTCTGGGAACGCTGATTAAAG	0.333000														142			12		0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228145242	228145242	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228145242T>C	uc002vom.2	+	29	2472	c.2310T>C	c.(2308-2310)atT>atC	p.I770I	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	770	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ATGGAGAAATTGGACTCCCTG	0.502000														137			49		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742452	15742452	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15742452T>G	uc001rcv.2	+	24	3944	c.3474T>G	c.(3472-3474)gaT>gaG	p.D1158E	PTPRO_uc001rcw.2_Missense_Mutation_p.D1130E|PTPRO_uc001rcx.2_Missense_Mutation_p.D347E|PTPRO_uc001rcy.2_Missense_Mutation_p.D347E|PTPRO_uc001rcz.2_Missense_Mutation_p.D319E|PTPRO_uc001rda.2_Missense_Mutation_p.D319E	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1158	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTCGGGATCATGAGTTTG	0.448000														166			49		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128389839	128389839	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128389839C>A	uc002top.3	+	37	5243	c.5190C>A	c.(5188-5190)ggC>ggA	p.G1730G	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1730	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAGAGCGGGGCTGGCAGCTGC	0.672000														96			5		0.000602214	0.000618135	1	1	0
KCNJ14	3770	broad.mit.edu	37	19	48965405	48965405	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48965405C>A	uc002pje.1	+	1	829	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	KCNJ14_uc002pjf.1_Missense_Mutation_p.L142M	NM_013348	NP_733838	Q9UNX9	IRK14_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 14 (KCNJ14), transcript variant 1, mRNA.	142						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CCTCTTCGCGCTGGAGACGCA	0.721000														23			6		0.0293803	0.0295844	1	1	0
SYN2	6854	broad.mit.edu	37	3	12203526	12203526	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12203526C>A	uc003bwm.3	+	9	1004	c.840C>A	c.(838-840)aaC>aaA	p.N280K	SYN2_uc003bwl.1_Missense_Mutation_p.N280K|SYN2_uc003bwn.3_5'UTR|TIMP4_uc003bwo.3_5'Flank	NM_133625	NP_598328	Q86VA8	Q86VA8_HUMAN	Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA.	284					neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AAGTGGAAAACCACTACGACT	0.527000														53			16		4.7546e-09	5.25358e-09	1	1	0
IGFL3	388555	broad.mit.edu	37	19	46627247	46627247	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46627247G>T	uc002pea.1	-	2	271	c.246C>A	c.(244-246)tgC>tgA	p.C82*		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	82						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		ACTCGGGACAGCAGAGCTCAA	0.532000														285			79		1.78839e-46	2.2796e-46	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293600	3293600	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3293600C>T	uc002cun.1	-	9	1927	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	MEFV_uc021tbw.1_3'UTR|MEFV_uc021tbx.1_Silent_p.L209L|MEFV_uc021tby.1_Silent_p.L132L|MEFV_uc021tbz.1_Silent_p.L48L|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_3'UTR	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	629	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCCATCAGGCAGCCTCTCCC	0.502000														397			89		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19413252	19413252	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19413252C>T	uc022btq.1	-	15	2141	c.2141G>A	c.(2140-2142)gGc>gAc	p.G714D	MAP3K15_uc004czj.2_Missense_Mutation_p.G149D|MAP3K15_uc004czk.2_Missense_Mutation_p.G189D	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	714	Protein kinase.						ATP binding|MAP kinase kinase kinase activity|metal ion binding	p.R714K(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TGAAACAGAGCCCAGGTACTG	0.483000														171			39		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75942572	75942572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75942572C>T	uc002bau.3	+	0	1225	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	IMP3_uc002bat.2_5'Flank|SNX33_uc002bav.3_Missense_Mutation_p.R64C	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	377	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CGTGGAAGATCGCGTGGACAC	0.592000														123			27		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173744849	173744849	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744849T>C	uc001gjc.3	+	9	1685	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	KLHL20_uc010pmr.2_Silent_p.C313C|KLHL20_uc009wwf.3_Silent_p.C484C	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	502					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCTAGGCTGTGCAGTATATC	0.488000														133			24		0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92663014	92663014	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92663014C>A	uc001khd.2	+	12	1234	c.964C>A	c.(964-966)Ctt>Att	p.L322I		NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	0					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						caagaacaggctttgaccctt	0.353000														35			8		0.00307968	0.00313564	1	1	0
TCF7L1	83439	broad.mit.edu	37	2	85536398	85536398	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85536398C>T	uc002soy.3	+	11	1805	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	527					Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						TCGGCTAAGGCTGCAGCCTCC	0.692000														123			41		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797891	148797891	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148797891C>A	uc004fdq.3	+	4	900	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	MAGEA11_uc004fdr.3_Missense_Mutation_p.L220M	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	249	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGCAGAAATGCTGGGGAGTGT	0.413000														190			50		1.21353e-23	1.50409e-23	1	1	0
E2F3	1871	broad.mit.edu	37	6	20402509	20402509	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20402509G>A	uc003nda.2	+	0	373	c.46G>A	c.(46-48)Gcc>Acc	p.A16T	E2F3_uc003ncz.2_Missense_Mutation_p.A16T|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	16					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			CCTGGTGACCGCCGGGGGTGG	0.607000														76			7		0	0	1	0	0
SMCR8	140775	broad.mit.edu	37	17	18219847	18219847	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18219847C>T	uc002gsy.4	+	0	1254	c.744C>T	c.(742-744)gaC>gaT	p.D248D		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AACATCAAGACCTGCTGAAGC	0.498000														76			15		0	0	1	0	0
CPO	130749	broad.mit.edu	37	2	207824388	207824388	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207824388C>T	uc002vby.2	+	4	452	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	136					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CTCAAGTATACGCAAGCTCCT	0.348000														77			12		0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143747217	143747217	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143747217C>A	uc003ywp.3	-	1	775	c.261G>T	c.(259-261)gaG>gaT	p.E87D	JRK_uc003ywo.3_Missense_Mutation_p.E87D|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ggtccaggtgctccagcttgg	0.662000														59			5		5.9392e-07	6.36579e-07	1	1	0
NFE2L1	4779	broad.mit.edu	37	17	46134725	46134725	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46134725G>T	uc002imz.4	+	4	1484	c.833G>T	c.(832-834)aGc>aTc	p.S278I	NFE2L1_uc002ina.4_Missense_Mutation_p.S248I|NFE2L1_uc002inb.4_Missense_Mutation_p.S248I|NFE2L1_uc010wle.2_Missense_Mutation_p.S90I|NFE2L1_uc010wlf.2_Missense_Mutation_p.S122I	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	278	Asp/Glu-rich (acidic).				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GACATTTCCAGCATAACAGAA	0.488000														220			42		4.44401e-20	5.4145e-20	1	1	0
ZSCAN23	222696	broad.mit.edu	37	6	28403940	28403940	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28403940C>T	uc003nli.4	-	1	285	c.104G>A	c.(103-105)gGc>gAc	p.G35D	ZSCAN23_uc003nlh.2_Non-coding_Transcript|ZSCAN23_uc010jrf.1_Intron|ZSCAN23_uc011dli.2_Missense_Mutation_p.G35D	NM_001012455	NP_001012458	Q3MJ62	ZSC23_HUMAN	Homo sapiens zinc finger and SCAN domain containing 23 (ZSCAN23), mRNA.	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						TCTTGACAGGCCTGATTCTGG	0.527000														20			4		0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36766592	36766592	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36766592G>T	uc001cae.4	+	9	2633	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	THRAP3_uc001caf.4_Missense_Mutation_p.E803D	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	803					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGAAAGAGAGGAGAGCACCA	0.512000			T	USP6	aneurysmal bone cysts									94			9		0.000274275	0.000282808	1	1	0
SEC14L4	284904	broad.mit.edu	37	22	30890926	30890926	+	Missense_Mutation	SNP	G	A	A	rs142766376	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30890926G>A	uc003aid.2	-	5	546	c.446C>T	c.(445-447)gCg>gTg	p.A149V	SEC14L4_uc011akz.1_Missense_Mutation_p.A149V|SEC14L4_uc003aie.2_Missense_Mutation_p.A134V|SEC14L4_uc003aif.2_Missense_Mutation_p.A95V	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	149	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CACCATCAGCGCCATCTCGAT	0.592000														126			37		0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149809786	149809786	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149809786C>A	uc004fef.4	+	7	649	c.573C>A	c.(571-573)tgC>tgA	p.C191*	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Nonsense_Mutation_p.C154*|MTM1_uc011mxz.2_Nonsense_Mutation_p.C76*|MTM1_uc010nte.3_Nonsense_Mutation_p.C59*	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	191	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)					TTAATAAGTGCTATGAGCTCT	0.433000														95			27		4.7796e-09	5.27959e-09	1	1	0
TRDMT1	1787	broad.mit.edu	37	10	17210891	17210891	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17210891C>A	uc001iop.3	-	2	637	c.200G>T	c.(199-201)aGa>aTa	p.R67I	TRDMT1_uc001ios.3_5'UTR|TRDMT1_uc009xjt.3_Intron|TRDMT1_uc010qcc.1_5'UTR|TRDMT1_uc010qcd.2_Intron|TRDMT1_uc021pnn.1_Non-coding_Transcript|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc021pno.1_Non-coding_Transcript|TRDMT1_uc009xju.1_Intron	NM_004412	NP_004403	O14717	TRDMT_HUMAN	Homo sapiens tRNA aspartic acid methyltransferase 1 (TRDMT1), mRNA.	67					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AAAAGATAATCTGTCAAACTC	0.378000														33			9		1.11149e-13	1.2982e-13	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978191	247978191	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978191T>C	uc001idm.1	-	0	841	c.841A>G	c.(841-843)Acc>Gcc	p.T281A		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GGATTAAAGGTTGGGGGCAGC	0.408000														68			10		0	0	1	0	0
SLC19A2	10560	broad.mit.edu	37	1	169446393	169446393	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169446393C>T	uc001gge.4	-	2	1011	c.807_splice	c.e2+1	p.P269_splice	SLC19A2_uc001ggf.4_Intron	NM_006996	NP_008927	O60779	S19A2_HUMAN	Homo sapiens solute carrier family 19 (thiamine transporter), member 2 (SLC19A2), mRNA.	269					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					CTGAGCTTACCGGTTCCTCCA	0.468000														219			11		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642572	122642572	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122642572G>A	uc003efz.1	-	9	1468	c.1164C>T	c.(1162-1164)tgC>tgT	p.C388C	SEMA5B_uc011bju.1_Silent_p.C330C|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.C388C|SEMA5B_uc010hro.1_Silent_p.C330C|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	388	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C388C(2)|p.C442C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTGAAGGCGCAGACAGCAG	0.592000														177			40		0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185200169	185200169	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185200169C>T	uc010hyf.3	+	14	3117	c.2826C>T	c.(2824-2826)gaC>gaT	p.D942D	MAP3K13_uc011brt.2_Silent_p.D735D|MAP3K13_uc011bru.2_Silent_p.D798D|MAP3K13_uc003fpi.3_Silent_p.D942D|MAP3K13_uc010hyg.3_Silent_p.D632D	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	942					JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding	p.D942D(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAGAATCGGACTGTGACTCTT	0.423000														182			48		0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374874	135374874	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135374874G>A	uc004cbn.3	+	3	567	c.519G>A	c.(517-519)gaG>gaA	p.E173E	C9orf171_uc004cbo.3_Silent_p.E137E	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	173								p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCGGGAGAACTTGCTCT	0.592000														234			58		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455008	84455008	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84455008T>G	uc001vlk.3	-	0	1521	c.635A>C	c.(634-636)aAc>aCc	p.N212T		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	212	LRRCT 1.					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)		GTCCCAAGGGTTATCCTCTAG	0.562000														111			16		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204394128	204394128	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204394128C>T	uc001haw.3	-	33	5236	c.4757G>A	c.(4756-4758)cGg>cAg	p.R1586Q	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R1558Q	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1586	C2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGGAGCTCCCGCTGCTGCAG	0.572000														54			17		0	0	1	0	0
PIGW	284098	broad.mit.edu	37	17	34894032	34894032	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34894032T>C	uc002hmy.1	+	1	1125	c.1082T>C	c.(1081-1083)gTa>gCa	p.V361A	MYO19_uc010cuu.3_5'Flank|MYO19_uc010wcy.2_5'Flank|MYO19_uc002hmw.3_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_Missense_Mutation_p.V361A|PIGW_uc021tvq.1_Missense_Mutation_p.V361A	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	361					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAAGTAAATGTAGAAGCAGTA	0.348000														60			11		0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212434	62212434	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62212434G>T	uc003xuh.3	+	1	372	c.48G>T	c.(46-48)tgG>tgT	p.W16C	CLVS1_uc003xug.2_Missense_Mutation_p.W16C|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	16					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.W16L(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TAAACACTTGGAACGGAGATT	0.453000														79			15		2.61681e-11	2.97614e-11	1	1	0
CGRRF1	10668	broad.mit.edu	37	14	55004875	55004875	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55004875G>A	uc001xay.3	+	5	864	c.773G>A	c.(772-774)gGa>gAa	p.G258E		NM_006568	NP_006559	Q99675	CGRF1_HUMAN	Homo sapiens cell growth regulator with ring finger domain 1 (CGRRF1), mRNA.	258					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						GAAAAGGTGGGACTCTCTGAA	0.423000														119			15		0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56160870	56160870	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56160870G>A	uc002qlr.3	+	3	968	c.233G>A	c.(232-234)cGc>cAc	p.R78H	CCDC106_uc021vcc.1_Missense_Mutation_p.R78H|CCDC106_uc021vcd.1_Missense_Mutation_p.R78H|CCDC106_uc002qls.3_Missense_Mutation_p.R78H	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	78						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTGCAGAAGCGCATCGAGGAC	0.607000														95			17		0	0	1	0	0
ZNF280D	54816	broad.mit.edu	37	15	56985325	56985325	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56985325T>C	uc002adu.3	-	6	687	c.470A>G	c.(469-471)tAc>tGc	p.Y157C	ZNF280D_uc002adv.3_Missense_Mutation_p.Y144C|ZNF280D_uc010bfq.3_Missense_Mutation_p.Y157C|ZNF280D_uc002adw.1_Missense_Mutation_p.Y185C|ZNF280D_uc010bfr.1_Non-coding_Transcript	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TCCCCCTTGGTAATGTGATAA	0.343000														45			6		0	0	1	0	0
CHPT1	56994	broad.mit.edu	37	12	102117041	102117041	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102117041G>A	uc001tin.3	+	5	1099	c.876G>A	c.(874-876)aaG>aaA	p.K292K	CHPT1_uc001tio.3_Non-coding_Transcript|CHPT1_uc001tip.1_Silent_p.K292K	NM_020244	NP_064629	Q8WUD6	CHPT1_HUMAN	Homo sapiens choline phosphotransferase 1 (CHPT1), mRNA.	292					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTGAAAAGCATCCTTGTC	0.318000														45			8		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671625	25671625	+	Missense_Mutation	SNP	G	A	A	rs150466188	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671625G>A	uc001upy.3	+	0	1350	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	430					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCAAGTCCTCGCTGGACTGCT	0.512000														227			39		0	0	1	0	0
HGFAC	3083	broad.mit.edu	37	4	3446679	3446679	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3446679C>T	uc003ghc.3	+	7	978	c.975C>T	c.(973-975)ggC>ggT	p.G325G	HGFAC_uc010icw.3_Silent_p.G325G	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	325	Kringle.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		ACTCCGTGGGCGCCGCGGCCC	0.716000														43			12		0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62066556	62066556	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62066556C>A	uc002sbm.4	-	3	1685	c.1583_splice	c.e3+1	p.R528_splice	FAM161A_uc002sbn.4_Splice_Site_p.R338_splice|FAM161A_uc010ypo.2_Splice_Site_p.R528_splice|FAM161A_uc010fcm.1_Splice_Site|FAM161A_uc010fcn.1_Splice_Site_p.R419_splice	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	528					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTACTTACCTTACGGCTTG	0.463000														89			23		5.77227e-19	6.99363e-19	1	1	0
SLC52A2	79581	broad.mit.edu	37	8	145583671	145583671	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145583671G>A	uc003zcc.2	+	2	683	c.519G>A	c.(517-519)ccG>ccA	p.P173P	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Silent_p.P173P|SLC52A2_uc010mfy.2_Silent_p.P173P|SLC52A2_uc011llc.2_Silent_p.P85P|SLC52A2_uc003zcd.2_Silent_p.P173P	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	173						integral to plasma membrane	receptor activity|riboflavin transporter activity										TCGAGTGCCCGCCAGCCCCCA	0.657000														291			72		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140856829	140856829	+	Silent	SNP	C	T	T	rs60063068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856829C>T	uc003lkv.2	+	0	1261	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Silent_p.G382G|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	380	Cadherin 4.				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)			TGGATGCTGGCGAGAACGGGC	0.567000														79			19		0	0	1	0	0
FAM108B1	51104	broad.mit.edu	37	9	74481776	74481776	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74481776T>G	uc004ail.3	-	3	1396	c.794A>C	c.(793-795)aAt>aCt	p.N265T	FAM108B1_uc004aim.1_Missense_Mutation_p.N265T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	265						extracellular region	hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						TTCCACATCATTGTGACCTGC	0.418000														111			21		0	0	1	0	0
PBX3	5090	broad.mit.edu	37	9	128723010	128723010	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128723010T>A	uc004bqb.3	+	5	1007	c.891T>A	c.(889-891)atT>atA	p.I297I	PBX3_uc004bqc.3_Silent_p.I116I|PBX3_uc004bqd.3_Silent_p.I116I|PBX3_uc011lzw.2_Silent_p.I222I|PBX3_uc011lzx.2_Silent_p.I208I|PBX3_uc004bqe.3_Silent_p.I205I	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	297					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						AGAAGAACATTGGCAAGTTTC	0.483000														71			16		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476283	21476283	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476283C>T	uc002npq.1	-	3	1683	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	ZNF708_uc002npr.1_Silent_p.K431K|ZNF708_uc010ecs.1_Silent_p.K431K	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TATGAATTATCTTATGTGTAG	0.333000														51			17		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4163832	4163832	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4163832A>G	uc002cvx.3	-	1	2151	c.1612T>C	c.(1612-1614)Tac>Cac	p.Y538H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCATCTAAGTATTTTGCGGTG	0.498000														204			56		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15558986	15558986	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15558986G>A	uc002nbb.4	-	1	347	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MIR1470_uc021upx.1_5'Flank	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1117						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CGGGTGGACCGGAAGATGCCA	0.647000														198			36		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700178	30700178	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30700178G>A	uc003xil.3	-	0	6356	c.6356C>T	c.(6355-6357)tCa>tTa	p.S2119L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2119										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACATCTGTTGAGTTATCTTT	0.368000														48			16		0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102766458	102766458	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102766458C>T	uc001ksj.3	+	4	1713	c.1543C>T	c.(1543-1545)Cga>Tga	p.R515*	LZTS2_uc010qpw.2_Nonsense_Mutation_p.R515*|LZTS2_uc001ksk.3_Nonsense_Mutation_p.R515*|LZTS2_uc001ksl.3_Nonsense_Mutation_p.R515*|LZTS2_uc001ksm.3_Non-coding_Transcript	NM_032429	NP_115805	Q9BRK4	LZTS2_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 2 (LZTS2), mRNA.	515	Sufficient for interaction with CTNNB1.|Sufficient for interaction with KATNB1 and for inhibition of katanin-mediated microtubule severing (By similarity).				Wnt receptor signaling pathway|cell division|mitosis	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGAGCTGCAGCGACACCGCCA	0.701000														52			17		0	0	1	0	0
KCNMB4	27345	broad.mit.edu	37	12	70760741	70760741	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70760741G>A	uc001svx.3	+	0	680	c.227G>A	c.(226-228)tGc>tAc	p.C76Y		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	76					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GGCGCCGACTGCAGGGGCACC	0.637000														181			41		0	0	1	0	0
C22orf29	79680	broad.mit.edu	37	22	19838878	19838878	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19838878G>T	uc002zqg.3	-	1	1506	c.907C>A	c.(907-909)Ctg>Atg	p.L303M	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.L303M|C22orf29_uc002zqi.3_Missense_Mutation_p.L303M|C22orf29_uc021wli.1_Missense_Mutation_p.L303M	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	303	Pro-rich.									NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GACTCCGACAGTCTAGGGACA	0.597000														94			17		6.49762e-13	7.53005e-13	1	1	0
RIPK4	54101	broad.mit.edu	37	21	43171324	43171324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43171324C>T	uc002yzn.1	-	2	604	c.556G>A	c.(556-558)Gcc>Acc	p.A186T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	186						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGGAGGTAGGCGATTGTGCCA	0.577000														118			25		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32014362	32014362	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32014362C>T	uc003ale.3	+	32	4080	c.3687C>T	c.(3685-3687)gcC>gcT	p.A1229A	SFI1_uc003alf.3_Silent_p.A1198A|SFI1_uc003alg.3_Silent_p.A1147A|SFI1_uc011alp.2_Silent_p.A1135A|SFI1_uc011alq.2_Silent_p.A1174A|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Silent_p.A321A|SFI1_uc003alj.3_Silent_p.A363A	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	1229					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATTGGCGCCTGCGTTGCCC	0.687000														50			10		0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945946	72945946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945946G>A	uc021qna.1	+	0	742	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	P2RY2_uc001otk.3_Missense_Mutation_p.A248T|P2RY2_uc001otj.3_Missense_Mutation_p.A248T|P2RY2_uc001otl.3_Missense_Mutation_p.A248T	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I247I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCGCACCATCGCCGTGGTGCT	0.647000														207			61		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28386688	28386688	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386688G>T	uc002het.3	+	13	2898	c.2706G>T	c.(2704-2706)aaG>aaT	p.K902N	EFCAB5_uc010wbj.2_Intron|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Missense_Mutation_p.K781N	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	902	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACATACAAGGAGGGAATGG	0.388000														60			18		3.41278e-10	3.83229e-10	1	1	0
SPATA25	128497	broad.mit.edu	37	20	44515471	44515471	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44515471C>T	uc002xqf.3	-	1	378	c.369G>A	c.(367-369)agG>agA	p.R123R		NM_080608	NP_542175	Q9BR10	CT165_HUMAN	Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA.	123						integral to membrane											GCATCAGGGGCCTAGGCCTGC	0.632000														275			61		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53515625	53515625	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53515625G>A	uc002ehi.4	+	20	3245	c.3127G>A	c.(3127-3129)Ggc>Agc	p.G1043S	RBL2_uc002ehj.3_Missense_Mutation_p.G753S|RBL2_uc010vgw.2_Splice_Site_p.G422_splice	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	1043					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTAAGAACAGGCTCCCCTCG	0.333000														47			8		0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37113493	37113493	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37113493T>G	uc002hrc.2	-	3	566	c.366A>C	c.(364-366)aaA>aaC	p.K122N		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	122										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						ATGTGCATCTTTTAAACAGTA	0.318000														111			19		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20422901	20422901	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20422901C>A	uc002dhe.3	+	1	242	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ACSM5_uc002dhd.1_Missense_Mutation_p.P32H	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	32					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						CTACCTGTTCCTCAGAAGATC	0.577000														92			21		3.62473e-10	4.06567e-10	1	1	0
EEFSEC	60678	broad.mit.edu	37	3	127965783	127965783	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127965783C>A	uc003eki.3	+	1	459	c.421C>A	c.(421-423)Ctg>Atg	p.L141M		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	141						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CTGCCAGAAGCTGGTCGTGGT	0.488000														328			60		3.76997e-23	4.66409e-23	1	1	0
PKD1L2	114780	broad.mit.edu	37	16	81164153	81164153	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81164153G>A	uc002fgh.1	-	35	5951	c.5951C>T	c.(5950-5952)aCc>aTc	p.T1984I	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1985					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAGCCCCTGGTGAAGCTGTG	0.592000														24			7		0	0	1	0	0
COG1	9382	broad.mit.edu	37	17	71197321	71197321	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71197321T>G	uc002jjg.3	+	6	1391	c.1355T>G	c.(1354-1356)cTt>cGt	p.L452R	COG1_uc002jjf.1_Missense_Mutation_p.L452R|COG1_uc002jjh.3_Missense_Mutation_p.L452R	NM_018714	NP_061184	Q8WTW3	COG1_HUMAN	Homo sapiens component of oligomeric golgi complex 1 (COG1), mRNA.	452					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			TTGCAGGAACTTGAAAGCAGC	0.463000														182			44		0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30114887	30114887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30114887G>A	uc003npk.2	+	3	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_uc003npm.2_Silent_p.A160A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597000														102			33		0	0	1	0	0
DNAJB11	51726	broad.mit.edu	37	3	186302256	186302256	+	Missense_Mutation	SNP	C	T	T	rs139219315		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186302256C>T	uc003fqi.3	+	8	1625	c.890C>T	c.(889-891)gCg>gTg	p.A297V		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	297					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		AGGCCAGGAGCGAAGCTATGG	0.448000														86			6		0	0	1	0	0
PCDHB9	56127	broad.mit.edu	37	5	140567868	140567868	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140567868G>T	uc003liw.1	+	0	976	c.976G>T	c.(976-978)Ggc>Tgc	p.G326C		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACGGCGGAGGCCTTTCTGC	0.353000														53			8		0.000274275	0.000282808	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99123455	99123455	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99123455T>C	uc003uqv.3	+	5	916	c.792T>C	c.(790-792)aaT>aaC	p.N264N	ZKSCAN5_uc010lfx.3_Silent_p.N264N|ZKSCAN5_uc003uqw.3_Silent_p.N264N|ZKSCAN5_uc003uqx.3_Silent_p.N191N|ZKSCAN5_uc003uqy.3_5'UTR	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCAGGGACAATATGGAGCTCA	0.423000														152			32		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913334	36913334	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36913334G>A	uc002odz.1	+	0		c.1259G>A								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TTGTAGGAGGGTATAAGAACC	0.478000														45			9		0	0	1	0	0
RBMS1	5937	broad.mit.edu	37	2	161223761	161223761	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:161223761T>C	uc002ubo.3	-	1	661	c.217A>G	c.(217-219)Acc>Gcc	p.T73A	RBMS1_uc002ubn.3_Missense_Mutation_p.T73A|RBMS1_uc002ubi.4_Missense_Mutation_p.T73A|RBMS1_uc002ubm.3_Missense_Mutation_p.T40A|RBMS1_uc002ubp.3_Missense_Mutation_p.T73A|RBMS1_uc010fox.2_Missense_Mutation_p.T73A	NM_016836	NP_058520	P29558	RBMS1_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 1 (RBMS1), transcript variant 1, mRNA.	73	RRM 1.				DNA replication|RNA processing	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGGTCGGTGGTGTGGGGAGGC	0.453000														145			50		0	0	1	0	0
PIWIL4	143689	broad.mit.edu	37	11	94310447	94310447	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94310447C>A	uc001pfa.3	+	3	513	c.302C>A	c.(301-303)tCc>tAc	p.S101Y	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	101					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TCTTCAGGTTCCAGTGGAATA	0.328000														54			5		0.014758	0.0149061	1	1	0
GRN	2896	broad.mit.edu	37	17	42429421	42429421	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429421G>T	uc002igp.1	+	10	1437	c.1218G>T	c.(1216-1218)caG>caT	p.Q406H		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	406					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GCTGCCCCCAGGGCTACACGT	0.657000														144			35		1.69901e-12	1.96103e-12	1	1	0
WDR86	349136	broad.mit.edu	37	7	151097270	151097270	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151097270C>A	uc011kvk.1	-	1	670	c.221G>T	c.(220-222)aGc>aTc	p.S74I	WDR86_uc003wka.2_Missense_Mutation_p.S32I|WDR86_uc003wkb.2_Missense_Mutation_p.S74I|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	74										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGTCGGCGCTGCATGTGAA	0.607000														56			7		0.248553	0.24885	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40316646	40316646	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316646C>T	uc002omj.3	-	10	1879	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S	DYRK1B_uc002omi.3_Silent_p.S505S|DYRK1B_uc002omk.3_Silent_p.S493S	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	533					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CAGGCAGTGACGAGGCAGAGG	0.652000														136			11		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48512134	48512134	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48512134A>T	uc003gyh.1	-	58	8941	c.8336T>A	c.(8335-8337)gTt>gAt	p.V2779D	FRYL_uc003gyf.1_Missense_Mutation_p.V175D|FRYL_uc003gyg.1_Missense_Mutation_p.V1475D	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2779					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CAACTCCAAAACACCAAACTT	0.418000														88			19		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130840413	130840413	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130840413G>A	uc003kvn.2	-	10	1366	c.1160C>T	c.(1159-1161)aCc>aTc	p.T387I	RAPGEF6_uc003kvp.2_Missense_Mutation_p.T437I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.T387I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.T387I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.T387I|RAPGEF6_uc003kvq.3_Missense_Mutation_p.T104I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.T387I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.T387I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	387					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACTTTATGGGTATTTTTTTC	0.418000														93			23		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1025023	1025023	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1025023G>A	uc001lsw.2	-	23	3097	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1016	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TACCTGCTGCGCGTCTCGAAG	0.642000														88			14		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817488	43817488	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43817488T>C	uc001zrt.3	+	3	4284	c.3817T>C	c.(3817-3819)Tac>Cac	p.Y1273H		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1273						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GACAACTCGATACTCTGCACA	0.537000														105			26		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117241504	117241504	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117241504T>C	uc003pxm.3	+	11	1277	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	405					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCATGTCGTTAATTCT	0.393000														181			43		0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52657437	52657437	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52657437G>A	uc001vge.3	-	16	1671	c.1531C>T	c.(1531-1533)Cct>Tct	p.P511S		NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 5 (NEK5), mRNA.	511							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		TGATGGACAGGCAGGTTACTC	0.433000														110			18		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413317	124413317	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124413317A>C	uc003ehg.3	+	52	7671	c.7544A>C	c.(7543-7545)gAt>gCt	p.D2515A	KALRN_uc003ehk.3_Missense_Mutation_p.D818A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2514	Ig-like C2-type.				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						CTTGACACTGATAACAGCTCA	0.537000														155			23		0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158495692	158495692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158495692C>T	uc003qqx.2	+	15	2320	c.2214C>T	c.(2212-2214)gtC>gtT	p.V738V	SYNJ2_uc003qqw.2_Silent_p.V738V|SYNJ2_uc003qqy.2_Silent_p.V501V|SYNJ2_uc003qqz.2_Silent_p.V355V|SYNJ2_uc003qra.2_Silent_p.V81V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	738							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATGAAGAAGTCTTCTATTTTG	0.333000														90			21		0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35836007	35836007	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35836007G>T	uc010edt.3	+	10	2270	c.2186G>T	c.(2185-2187)aGc>aTc	p.S729I	CD22_uc010edu.3_Missense_Mutation_p.S641I|CD22_uc010edv.3_Missense_Mutation_p.S729I|CD22_uc002nzb.4_Missense_Mutation_p.S552I|CD22_uc010xst.2_Missense_Mutation_p.S557I|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	729					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGCGGCCAGAGCTTCTTTGTG	0.552000														139			28		1.5548e-18	1.87917e-18	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2119478	2119478	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2119478C>T	uc003zhc.3	+	25	3804	c.3705C>T	c.(3703-3705)gaC>gaT	p.D1235D	SMARCA2_uc003zhd.3_Silent_p.D1235D|SMARCA2_uc010mha.3_Silent_p.D1168D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1235					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAGTACCGGACGATGAGACTC	0.408000														77			11		0	0	1	0	0
TMEM95	339168	broad.mit.edu	37	17	7259362	7259362	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259362G>A	uc002ggg.1	+	3	349	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	TMEM95_uc002ggf.1_Missense_Mutation_p.A108T|TMEM95_uc002ggh.1_Missense_Mutation_p.A108T			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	108						integral to membrane		p.P107P(1)		large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CTGTCCCCCCGCCTGCCGTGA	0.597000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		154			52		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107937887	107937887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107937887G>A	uc001tmk.1	+	2	1982	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	BTBD11_uc009zut.1_Silent_p.E487E|BTBD11_uc001tmj.3_Silent_p.E487E	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	487						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						CCAACGTGGAGCCTTCCAAAG	0.572000														101			15		0	0	1	0	0
DDI1	414301	broad.mit.edu	37	11	103907738	103907738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103907738C>T	uc001phr.2	+	0	431	c.188C>T	c.(187-189)tCc>tTc	p.S63F	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	63	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCCTGGGCTCCTACGGCCTC	0.582000														354			77		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79671415	79671415	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79671415C>T	uc011dyp.2	-	30	3871	c.3645G>A	c.(3643-3645)agG>agA	p.R1215R	PHIP_uc003piq.3_Silent_p.R240R|PHIP_uc003pir.3_Silent_p.R1216R|PHIP_uc003pio.4_Silent_p.R102R	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1216	Bromo 1.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ACCTGTAAAACCTGTTTTCCA	0.408000														40			9		0	0	1	0	0
CEP72	55722	broad.mit.edu	37	5	639260	639260	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:639260G>A	uc003jbf.3	+	7	1335	c.1263G>A	c.(1261-1263)gcG>gcA	p.A421A	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	421					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		p.A421V(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGCAGGCGGCGCTCCTGGAGA	0.642000														232			13		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474468C>T	uc021vsy.1	-	220	44203	c.43978G>A	c.(43978-43980)Gcg>Acg	p.A14660T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A8355T|TTN_uc021vta.1_Missense_Mutation_p.A8288T|TTN_uc021vtb.1_Missense_Mutation_p.A8163T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15587	Ig-like 96.						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)			CTAATACCCGCGGCGTTCTCT	0.468000														333			101		0	0	1	0	0
FTMT	94033	broad.mit.edu	37	5	121188106	121188106	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121188106C>T	uc003kss.3	+	0	457	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	150	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GAAGCCGGAACAGGACGACTG	0.592000														193			36		0	0	1	0	0
HTR3D	200909	broad.mit.edu	37	3	183756362	183756362	+	Missense_Mutation	SNP	C	T	T	rs142947621		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183756362C>T	uc011bqv.2	+	6	1085	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	HTR3D_uc003fmj.3_Missense_Mutation_p.A187V|HTR3D_uc011bqu.2_Missense_Mutation_p.A312V|HTR3D_uc010hxp.3_Missense_Mutation_p.A141V	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	362						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGTCCCACTGCGCCCCAGAAG	0.657000														97			33		0	0	1	0	0
DOK7	285489	broad.mit.edu	37	4	3495172	3495172	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3495172G>T	uc003ghd.3	+	6	1529	c.1459G>T	c.(1459-1461)Gct>Tct	p.A487S	DOK7_uc003ghe.3_3'UTR|DOK7_uc003ghf.3_3'UTR|DOK7_uc003ghg.1_Missense_Mutation_p.A177S	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	487					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCCACCCCCGGCTTTCTTTTC	0.692000														32			12		2.27111e-07	2.44751e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179418655	179418655	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179418655G>A	uc021vsy.1	-	281	81704	c.81479C>T	c.(81478-81480)gCt>gTt	p.A27160V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A20855V|TTN_uc021vta.1_Missense_Mutation_p.A20788V|TTN_uc021vtb.1_Missense_Mutation_p.A20663V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28087	Ig-like 129.						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)			AGGATCAGCAGCTTTGTAGAA	0.398000														61			19		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147486674	147486674	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147486674T>C	uc003lox.2	+	16	1627	c.1554T>C	c.(1552-1554)cgT>cgC	p.R518R	SPINK5_uc010jgs.1_Silent_p.R490R|SPINK5_uc010jgr.2_Silent_p.R499R|SPINK5_uc003low.2_Silent_p.R518R|SPINK5_uc003loy.2_Silent_p.R518R	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	518	Kazal-like 8.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCTGTCCGTGGCCCAGATG	0.463000														165			37		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96758421	96758421	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96758421G>A	uc001yfi.3	-	36	5806	c.5441C>T	c.(5440-5442)aCg>aTg	p.T1814M		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1814										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AACTTCTGACGTGAATCTAAA	0.308000														81			7		0	0	1	0	0
PEX16	9409	broad.mit.edu	37	11	45931662	45931662	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45931662G>A	uc001nbt.3	-	10	1331	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	C11orf94_uc001nbs.4_5'Flank|PEX16_uc001nbu.3_3'UTR	NM_057174	NP_476515	Q9Y5Y5	PEX16_HUMAN	Homo sapiens peroxisomal biogenesis factor 16 (PEX16), transcript variant 2, mRNA.	0					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGGGAGGAACGCTGGTGGCGA	0.642000														170			35		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33330454	33330454	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33330454C>T	uc002xav.3	-	11	6177	c.3606G>A	c.(3604-3606)gcG>gcA	p.A1202A	NCOA6_uc002xaw.3_Silent_p.A1202A|NCOA6_uc021wcd.1_Intron|NCOA6_uc021wce.1_Silent_p.A1202A|NCOA6_uc021wcf.1_Intron	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	1202	NCOA1-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TCTGGGTTGGCGCAGCCACAT	0.577000														274			28		0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157804531	157804531	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157804531C>T	uc001frk.4	-	3	527	c.384G>A	c.(382-384)gaG>gaA	p.E128E		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	128					apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAAAGAGCTCTCTGGGTCTG	0.562000														155			46		0	0	1	0	0
CLEC12B	387837	broad.mit.edu	37	12	10167267	10167267	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10167267G>T	uc001qwz.2	+	2	464	c.336G>T	c.(334-336)caG>caT	p.Q112H	CLEC12B_uc001qwx.2_Missense_Mutation_p.Q112H|CLEC12B_uc001qwy.2_Missense_Mutation_p.Q9H|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	112						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCAAGTCACAGATCTCCAGTG	0.458000														82			20		5.03518e-11	5.70985e-11	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87672030	87672030	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87672030A>C	uc003hpz.3	+	17	3538	c.3058A>C	c.(3058-3060)Aaa>Caa	p.K1020Q	PTPN13_uc003hpy.3_Missense_Mutation_p.K1020Q|PTPN13_uc003hqa.3_Missense_Mutation_p.K1020Q|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1020						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGGAGTGACAAAACTTAATAA	0.348000														30			5		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380552	3380552	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3380552G>A	uc001lxt.3	-	5	1868	c.1686C>T	c.(1684-1686)ttC>ttT	p.F562F	ZNF195_uc010qxr.2_Silent_p.F543F|ZNF195_uc009ydz.3_Silent_p.F517F|ZNF195_uc001lxu.3_Silent_p.F494F|ZNF195_uc001lxv.3_Silent_p.F539F|ZNF195_uc021qck.1_Silent_p.F494F|ZNF195_uc001lxs.3_Silent_p.F490F	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAATGTCTGAGAACCACATGA	0.393000														106			24		0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133118967	133118967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133118967G>A	uc003epn.1	+	0	178	c.40G>A	c.(40-42)Gcc>Acc	p.A14T		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	14	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GCCCACCAGTGCCAGCTCCAG	0.617000														189			46		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21840243	21840243	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21840243C>T	uc003xaa.4	+	10	1299	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	399				Missing (in Ref. 3; BAA34465).	mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CCACAGAGCCCCACATGCTGG	0.502000														145			30		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168139347	168139347	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168139347G>T	uc010jjg.3	-	23	2916	c.2496C>A	c.(2494-2496)ggC>ggA	p.G832G	SLIT3_uc003mab.3_Silent_p.G832G	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	832					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATGTCATTGCCATGGAGGG	0.493000														112			13		1.05317e-09	1.17384e-09	1	1	0
KIAA0141	9812	broad.mit.edu	37	5	141304986	141304986	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141304986A>G	uc003lls.3	+	2	280	c.158A>G	c.(157-159)cAt>cGt	p.H53R	KIAA0141_uc003llt.3_Missense_Mutation_p.H53R	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	53					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGGTCCCCATGGCCCAGGC	0.557000														124			25		0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929721	32929721	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32929721T>G	uc001zgy.1	+	11	3469	c.2747T>G	c.(2746-2748)aTt>aGt	p.I916S	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.I727S|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.I727S	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	916					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		ATTGGTGCAATTTCAAAGTCA	0.368000														112			23		0	0	1	0	0
LPAR1	1902	broad.mit.edu	37	9	113704156	113704156	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113704156G>A	uc011lwo.2	-	1	343	c.341C>T	c.(340-342)aCt>aTt	p.T114I	LPAR1_uc004bfa.3_Missense_Mutation_p.T113I|LPAR1_uc011lwm.2_Missense_Mutation_p.T114I|LPAR1_uc004bfc.3_Missense_Mutation_p.T113I|LPAR1_uc011lwn.2_Missense_Mutation_p.T95I|LPAR1_uc004bfb.3_Missense_Mutation_p.T113I|LPAR1_uc010mub.3_Missense_Mutation_p.T113I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						CAGTCTCCGAGTATTGGGTCC	0.488000														228			39		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149515002	149515002	+	Missense_Mutation	SNP	G	A	A	rs73481854	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149515002G>A	uc010lpk.3	+	79	11383	c.11383G>A	c.(11383-11385)Ggg>Agg	p.G3795R		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3798					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGTGCACACGGGAAGCTGTC	0.672000														101			14		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111431456	111431456	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111431456G>A	uc003iab.4	+	5	1592	c.1250G>A	c.(1249-1251)gGa>gAa	p.G417E		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	417					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)	CTAAATGAAGGATTTGCTTCT	0.368000														114			24		0	0	1	0	0
GFI1B	8328	broad.mit.edu	37	9	135863798	135863798	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135863798C>A	uc004ccg.3	+	3	808	c.453C>A	c.(451-453)gaC>gaA	p.D151E	GFI1B_uc010mzy.3_Missense_Mutation_p.D151E	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	151	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCGCCTTGGACTTCAGCCTCC	0.657000														109			16		4.14922e-12	4.76557e-12	1	1	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338934	13338934	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13338934A>G	uc003gms.3	+	0		c.3898A>G								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						aaATACATTGATCAGGAAGAA	0.408000														70			10		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39671904	39671904	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39671904C>T	uc002hwy.3	-	5	1258	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	KRT15_uc002hwz.3_Missense_Mutation_p.R258H|KRT15_uc002hxa.3_Missense_Mutation_p.R191H|KRT15_uc002hxb.1_Missense_Mutation_p.R191H	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	356	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CGTGGCATAGCGGCACTCTGT	0.597000														137			32		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103958353	103958353	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103958353C>A	uc001ymz.4	+	14	2492	c.1826C>A	c.(1825-1827)aCt>aAt	p.T609N	MARK3_uc001ymx.4_Missense_Mutation_p.T609N|MARK3_uc001ymw.4_Missense_Mutation_p.T609N|MARK3_uc001yna.4_Missense_Mutation_p.T593N|MARK3_uc001ymy.4_Missense_Mutation_p.T530N|MARK3_uc010awp.3_Missense_Mutation_p.T632N|MARK3_uc010tyb.2_Missense_Mutation_p.T404N|MARK3_uc010awq.3_Missense_Mutation_p.T191N	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	609							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTAAATTAACTTCAAAACTC	0.463000														90			20		1.56452e-12	1.80666e-12	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268661	21268661	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268661G>A	uc001bec.3	-	8	1074	c.818C>T	c.(817-819)tCt>tTt	p.S273F	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.S272F|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.S272F|EIF4G3_uc001bee.3_Missense_Mutation_p.S279F|EIF4G3_uc001beg.3_Missense_Mutation_p.S272F|EIF4G3_uc010odk.2_Missense_Mutation_p.S273F|EIF4G3_uc001beh.3_Missense_Mutation_p.S284F	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	273					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGAGCAACAGAAGAAACAGT	0.463000														186			18		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16878269	16878269	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16878269C>A	uc001ioo.3	-	62	10197	c.10145G>T	c.(10144-10146)aGa>aTa	p.R3382I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3382	CUB 25.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTAGAGTTTCTGTTTACAAC	0.378000														71			17		1.02788e-11	1.17486e-11	1	1	0
DCAF15	90379	broad.mit.edu	37	19	14067054	14067054	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14067054A>G	uc002mxt.3	+	4	599	c.593A>G	c.(592-594)gAt>gGt	p.D198G	PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	198										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GCTTGCCAGGATGCCAGCCGA	0.667000														122			17		0	0	1	0	0
NUP88	4927	broad.mit.edu	37	17	5302881	5302881	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5302881G>T	uc010vsx.2	-	7	1371	c.1282C>A	c.(1282-1284)Ctt>Att	p.L428I	NUP88_uc002gbo.2_Missense_Mutation_p.L428I|NUP88_uc010cle.2_Missense_Mutation_p.L427I|NUP88_uc010vsy.2_Missense_Mutation_p.L428I	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	428					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity	p.L428I(2)		endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CCTGATCCAAGAAATTTGTGA	0.343000														41			11		1.08611e-07	1.17606e-07	1	1	0
SSTR4	6754	broad.mit.edu	37	20	23016359	23016359	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016359C>T	uc002wsr.2	+	0	303	c.239C>T	c.(238-240)aCg>aTg	p.T80M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	80					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.T80M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGATGAAGACGGCTACCAAC	0.632000														395			89		0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67771751	67771751	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67771751T>G	uc003xwp.3	+	18	2057	c.1426T>G	c.(1426-1428)Ttg>Gtg	p.L476V	SGK3_uc003xwr.3_Missense_Mutation_p.L476V|SGK3_uc003xwt.3_Missense_Mutation_p.L476V|SGK3_uc003xwu.3_Missense_Mutation_p.L444V	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	476	AGC-kinase C-terminal.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGCCAGTGTATTGGAGGCAGA	0.378000														106			24		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104639499	104639499	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104639499G>A	uc001yos.4	+	7	1606	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	536	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTGCTGGCCGAGGTGGCCCC	0.721000														65			9		0	0	1	0	0
FCRL3	115352	broad.mit.edu	37	1	157660291	157660291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157660291C>T	uc001fqz.4	-	8	1736	c.1444G>A	c.(1444-1446)Gct>Act	p.A482T	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.A208T|FCRL3_uc001frb.3_Missense_Mutation_p.A482T|FCRL3_uc001frc.1_Missense_Mutation_p.A482T	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	482	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCCCCGGGAGCCCTGAGGGTG	0.537000														180			45		0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63069843	63069843	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63069843T>G	uc001das.1	+	5	1186	c.1135T>G	c.(1135-1137)Ttg>Gtg	p.L379V	DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA.	379	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AAACAAAGATTTGGTGTTTTC	0.373000														106			24		0	0	1	0	0
MCCC2	64087	broad.mit.edu	37	5	70939654	70939654	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70939654C>T	uc003kbs.4	+	11	1219	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	361	Acyl-CoA binding (Potential).|Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	AGGATTTGCTCGAATATTTGG	0.338000														125			32		0	0	1	0	0
COPS8	10920	broad.mit.edu	37	2	237998518	237998518	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237998518T>C	uc002vwh.3	+	3	736	c.212T>C	c.(211-213)cTt>cCt	p.L71P	COPS8_uc010fys.1_Non-coding_Transcript|COPS8_uc002vwg.3_Missense_Mutation_p.L22P	NM_006710	NP_937832	Q99627	CSN8_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis) (COPS8), transcript variant 1, mRNA.	71	PCI.				cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4		Breast(86;0.000162)|Renal(207;0.00339)|all_hematologic(139;0.0123)|Ovarian(221;0.0694)|Acute lymphoblastic leukemia(138;0.0775)|all_lung(227;0.169)|all_neural(83;0.211)		Epithelial(121;7.41e-23)|OV - Ovarian serous cystadenocarcinoma(60;5.42e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000175)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0258)		AATTCTGAACTTGGGGGAATT	0.408000														121			23		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44144435	44144435	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44144435G>A	uc003tkb.3	+	0	476	c.171G>A	c.(169-171)ccG>ccA	p.P57P		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	57	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TGGAGGCCCCGCCGCCTCCCG	0.711000														31			7		0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33382062	33382062	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382062C>T	uc003oeh.3	+	8	1031	c.795C>T	c.(793-795)tgC>tgT	p.C265C	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.C265C|PHF1_uc010jux.3_Silent_p.C65C	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	265					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCAGTGTTTGCTGTAAGAAGA	0.468000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		140			37		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375869	93375869	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375869C>T	uc022bjs.1	-	0	241	c.241G>A	c.(241-243)Gcc>Acc	p.A81T	DIRAS2_uc004aqx.1_Missense_Mutation_p.A81T	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	81					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						AGGATGAAGGCGTGCCCTTTG	0.562000														308			28		0	0	1	0	0
LIN37	55957	broad.mit.edu	37	19	36245052	36245052	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36245052C>T	uc021usw.1	+	6	943	c.579C>T	c.(577-579)gaC>gaT	p.D193D	AL137752_uc002obl.3_5'Flank	NM_019104	NP_061977	Q96GY3	LIN37_HUMAN	Homo sapiens lin-37 homolog (C. elegans) (LIN37), mRNA.	193	Pro-rich.						protein binding			large_intestine(1)|lung(5)	6	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCACCCCTGACGATGAGGTGA	0.642000														131			37		0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103285770	103285770	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103285770C>A	uc001kta.3	+	6	670	c.557_splice	c.e6-1	p.A186_splice	BTRC_uc001ktb.3_Splice_Site_p.A150_splice|BTRC_uc001ktc.3_Splice_Site_p.A160_splice	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	186					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTACTGAAAGCTCGGGGATTG	0.438000														45			12		1.08611e-07	1.17606e-07	1	1	0
DENND4A	10260	broad.mit.edu	37	15	65962264	65962264	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65962264C>A	uc002api.3	-	27	5023	c.4638_splice	c.e27-1	p.R1546_splice	DENND4A_uc002aph.3_Splice_Site_p.R1503_splice	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TAGAAAGTATCTGTAATGTGA	0.378000														45			6		0.00198382	0.00202356	1	1	0
OFD1	8481	broad.mit.edu	37	X	13767603	13767603	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13767603C>T	uc004cvp.4	+	8	1245	c.886C>T	c.(886-888)Cta>Tta	p.L296L	OFD1_uc004cvr.4_5'UTR|OFD1_uc011mil.2_5'UTR|OFD1_uc004cvq.4_Silent_p.L156L|OFD1_uc010nen.3_Silent_p.L295L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Silent_p.L295L|OFD1_uc004cvv.4_Silent_p.L295L|OFD1_uc010neo.1_Silent_p.L82L	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	296					G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TATGGATTTGCTAAGAGGAAG	0.303000														49			15		0	0	1	0	0
HYOU1	10525	broad.mit.edu	37	11	118919076	118919076	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118919076G>A	uc001puu.2	-	19	2453	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	HYOU1_uc001put.2_Silent_p.L719L|HYOU1_uc010ryu.1_Silent_p.L712L|HYOU1_uc010ryv.1_Silent_p.L643L|HYOU1_uc001pux.3_Silent_p.L754L|HYOU1_uc010ryw.2_Non-coding_Transcript	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	754						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		GGCTGGTACAGCTTGTCCTGG	0.627000														179			38		0	0	1	0	0
AIPL1	23746	broad.mit.edu	37	17	6337274	6337274	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6337274C>T	uc002gcp.3	-	1	336	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	AIPL1_uc021toq.1_Missense_Mutation_p.V42M|AIPL1_uc002gcq.3_Intron|AIPL1_uc002gcr.3_Missense_Mutation_p.V81M|AIPL1_uc010clk.3_Missense_Mutation_p.V59M|AIPL1_uc010cll.3_Missense_Mutation_p.V81M|AIPL1_uc021tor.1_Missense_Mutation_p.V81M|AIPL1_uc002gcs.3_Missense_Mutation_p.V81M	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	81	PPIase FKBP-type.				protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		ACCTCGTGCACCCGCATGGAG	0.592000														62			10		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26947532	26947532	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26947532G>A	uc002hbu.3	-	28	5462	c.5359C>T	c.(5359-5361)Cgg>Tgg	p.R1787W		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1787						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CTCACCTTCCGCTTAGGTTCT	0.493000														101			8		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31323236	31323236	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31323236T>C	uc021sia.1	-	21	3442	c.3128A>G	c.(3127-3129)tAc>tGc	p.Y1043C	TRPM1_uc010azy.3_Missense_Mutation_p.Y911C|TRPM1_uc001zfl.3_Intron|TRPM1_uc021shz.1_Missense_Mutation_p.Y1026C|TRPM1_uc001zfm.3_Missense_Mutation_p.Y1004C	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1004					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTAGGGCATGTAGAAGATGTT	0.488000														148			37		0	0	1	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083112	176083112	+	Missense_Mutation	SNP	G	A	A	rs142689576	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176083112G>A	uc003met.3	+	5	845	c.616G>A	c.(616-618)Gtc>Atc	p.V206I	TSPAN17_uc003mes.3_Missense_Mutation_p.V98I|TSPAN17_uc003meu.3_Missense_Mutation_p.V206I|TSPAN17_uc003mew.3_Missense_Mutation_p.V206I	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	206						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCTACGACGTCCGGCTCAA	0.607000														100			41		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618747	77618747	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77618747T>C	uc003yau.2	+	1	2811	c.2424T>C	c.(2422-2424)aaT>aaC	p.N808N	ZFHX4_uc003yat.1_Silent_p.N808N|ZFHX4_uc003yaw.1_Silent_p.N808N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	808						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCCAGCATAATCTGCACTTGG	0.507000										HNSCC(33;0.089)				34			4		0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27677000	27677000	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27677000G>T	uc002rku.3	-	32	3611	c.3560C>A	c.(3559-3561)gCt>gAt	p.A1187D	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1187					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CACACGCTGAGCTGCCTCCCA	0.592000														332			55		7.91745e-34	1.00082e-33	1	1	0
ATG14	22863	broad.mit.edu	37	14	55844555	55844555	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55844555C>T	uc001xbx.2	-	8	1190	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S272N	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	385					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTGTTCAGAGCTTGGACTGAC	0.358000														44			6		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	85722	85722	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85722G>A	uc003fzv.1	+	3	483	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		GTGGACATGAGAATTTACAAT	0.393000														63			7		0	0	1	0	0
TRIM68	55128	broad.mit.edu	37	11	4626372	4626372	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4626372G>A	uc001lzf.2	-	1	653	c.363C>T	c.(361-363)agC>agT	p.S121S	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Silent_p.S121S	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	121					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTGGGGACTGGCTGCAGGCCT	0.552000														207			13		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142537272	142537272	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142537272C>T	uc003evd.3	-	8	1460	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	385	NTR.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTCGCCCATCTTCACCTACT	0.353000														90			22		0	0	1	0	0
DIO3	1735	broad.mit.edu	37	14	102028265	102028265	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102028265C>T	uc021sdx.1	+	0	578	c.432C>T	c.(430-432)gaC>gaT	p.D144D	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	118					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTCTGCCCGACGGCTTCCAGA	0.637000														205			55		0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117878848	117878848	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117878848C>T	uc003yod.3	-	1	409	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	41					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					ATACTCTCCACGCTGCTCTCT	0.388000														73			14		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444592	75444592	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444592G>A	uc001sxg.1	-	2	1737	c.1193C>T	c.(1192-1194)aCc>aTc	p.T398I	KCNC2_uc009zry.3_Missense_Mutation_p.T398I|KCNC2_uc001sxe.3_Missense_Mutation_p.T398I|KCNC2_uc001sxf.3_Missense_Mutation_p.T398I|KCNC2_uc010stw.1_Missense_Mutation_p.T398I	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	398					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GTAGATCATGGTAGCAAATAT	0.448000														76			18		0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855183	58855183	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58855183A>G	uc003dkt.1	-	8	920	c.511T>C	c.(511-513)Tca>Cca	p.S171P	C3orf67_uc003dks.1_5'UTR|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.S79P	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGCTGGCATGATCGGTTATTT	0.368000														62			23		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6639462	6639462	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6639462G>A	uc001ant.3	+	5	2440	c.2344G>A	c.(2344-2346)Gtc>Atc	p.V782I	TAS1R1_uc001anu.3_Missense_Mutation_p.V528I|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	782					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CACGGCCAGCGTCTACGACGG	0.567000														176			17		0	0	1	0	0
CCS	9973	broad.mit.edu	37	11	66366974	66366974	+	Missense_Mutation	SNP	G	A	A	rs149989199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66366974G>A	uc001oir.3	+	3	338	c.295G>A	c.(295-297)Gtg>Atg	p.V99M		NM_005125	NP_005116	O14618	CCS_HUMAN	Homo sapiens copper chaperone for superoxide dismutase (CCS), mRNA.	99	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCCTGGCACCGTGCAGGGGGT	0.632000														77			15		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125659725	125659725	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125659725C>T	uc010mwc.1	-	1	305	c.64G>A	c.(64-66)Gat>Aat	p.D22N	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.D22N|RC3H2_uc004bne.4_Missense_Mutation_p.D22N|RC3H2_uc011lzg.2_Missense_Mutation_p.D22N|RC3H2_uc004bng.1_Missense_Mutation_p.D22N	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	22						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						ACATTCTCATCAAATTCATTA	0.443000														46			10		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991545	144991545	+	Silent	SNP	C	T	T	rs143548638	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991545C>T	uc003zaf.1	-	31	13025	c.12855G>A	c.(12853-12855)acG>acA	p.T4285T	PLEC_uc003zab.1_Silent_p.T4148T|PLEC_uc003zac.1_Silent_p.T4152T|PLEC_uc003zad.2_Silent_p.T4148T|PLEC_uc003zae.1_Silent_p.T4116T|PLEC_uc003zag.1_Silent_p.T4126T|PLEC_uc003zah.2_Silent_p.T4134T|PLEC_uc003zaj.2_Silent_p.T4175T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4285	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCCTTGCCCGTCTCGGGGT	0.622000														159			28		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61575613	61575613	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61575613T>G	uc002sbe.3	-	14	1699	c.1677A>C	c.(1675-1677)gaA>gaC	p.E559D		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	559					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTGCATGGATTCCTGTATTT	0.378000														174			44		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120135797	120135797	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120135797C>T	uc001txj.2	-	44	5742	c.5686G>A	c.(5686-5688)Gca>Aca	p.A1896T	CIT_uc001txh.2_Missense_Mutation_p.A1373T|CIT_uc001txi.2_Missense_Mutation_p.A1854T	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1854					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGAGCGTGCCTGGATCTCA	0.532000														330			32		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21991201	21991201	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21991201G>A	uc001wbe.3	-	1	2943	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	SALL2_uc010tly.2_Silent_p.S885S|SALL2_uc010tlz.1_Silent_p.S750S|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Silent_p.S752S|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	887							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCAAGGTCACGCTGGTGGCTT	0.592000														93			34		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8819017	8819017	+	Silent	SNP	C	T	T	rs148649890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8819017C>T	uc002knr.2	+	12	3058	c.2916C>T	c.(2914-2916)gaC>gaT	p.D972D	SOGA2_uc002knq.2_Silent_p.D931D|SOGA2_uc002kns.2_Intron	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1282																	ATCAAAAAGACGGCAACGTTC	0.507000														179			50		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20418775	20418775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20418775G>A	uc003suu.3	+	3	1195	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	ITGB8_uc011jyh.2_Missense_Mutation_p.E29K|ITGB8_uc003sut.3_Missense_Mutation_p.E164K	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	164	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAATAATATAGAAAAATTAAA	0.343000														67			12		0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098212	92098212	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098212G>T	uc022ahe.1	-	0	1484	c.1484C>A	c.(1483-1485)aCt>aAt	p.T495N		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	495					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gtagatcttagtcttggactg	0.488000														146			31		2.81731e-10	3.16624e-10	1	1	0
LGSN	51557	broad.mit.edu	37	6	63990442	63990442	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:63990442C>T	uc003peh.3	-	3	1048	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	LGSN_uc003pei.3_Missense_Mutation_p.R198Q	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	338					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TCCCAGTGATCGTGAGCTGCT	0.488000														157			36		0	0	1	0	0
FAM96A	84191	broad.mit.edu	37	15	64380897	64380897	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64380897G>A	uc002amt.1	-	1	518	c.278C>T	c.(277-279)gCg>gTg	p.A93V	FAM96A_uc002amu.1_Missense_Mutation_p.A93V|FAM96A_uc010uin.2_Missense_Mutation_p.A93V	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN	Homo sapiens family with sequence similarity 96, member A (FAM96A), transcript variant 1, mRNA.	93					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AATAAGAGTCGCCAAAGAGCA	0.343000														39			6		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579675	44579675	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579675C>A	uc003tlb.3	-	1	377	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NPC1L1_uc011kbw.2_Missense_Mutation_p.K107N|NPC1L1_uc003tlc.3_Missense_Mutation_p.K107N|NPC1L1_uc003tld.3_Missense_Mutation_p.K107N	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	107					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)	TGAGGAGGGCCTTGGTGATCG	0.592000														109			14		2.32078e-09	2.57599e-09	1	1	0
PRKD3	23683	broad.mit.edu	37	2	37509721	37509721	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509721G>A	uc002rqd.3	-	5	1507	c.952C>T	c.(952-954)Cca>Tca	p.P318S	PRKD3_uc002rqf.1_Missense_Mutation_p.P318S	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	318					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				CAGTCTCTTGGTACTTTTGAT	0.318000														81			31		0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192234334	192234334	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192234334C>T	uc010fsg.2	+	11	1354	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	MYO1B_uc002usq.2_Nonsense_Mutation_p.R367*|MYO1B_uc002usr.2_Nonsense_Mutation_p.R367*	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	367	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.R367*(4)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GTTGGTAAATCGAATCAATGA	0.318000														87			7		0	0	1	0	0
MAPRE1	22919	broad.mit.edu	37	20	31413783	31413783	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31413783G>A	uc002wyh.3	+	1	189	c.50G>A	c.(49-51)cGa>cAa	p.R17Q		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	17	CH.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AACCTAAGTCGACATGACATG	0.443000														154			35		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54978518	54978518	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54978518G>A	uc004dty.1	-	7	737	c.666C>T	c.(664-666)gaC>gaT	p.D222D	PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Silent_p.D157D	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	222	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTGTGCCCACGTCGAAGATCT	0.567000														44			18		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161789	239161789	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161789G>T	uc002vyc.3	-	18	3112	c.2875C>A	c.(2875-2877)Cca>Aca	p.P959T	PER2_uc010znv.1_Missense_Mutation_p.P959T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	959	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		CAAGCACATGGCTGTCTGGGG	0.667000														181			70		1.15062e-32	1.45311e-32	1	1	0
TLR1	7096	broad.mit.edu	37	4	38798201	38798201	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38798201G>A	uc003gtl.3	-	3	2526	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	TLR1_uc021xnn.1_Missense_Mutation_p.A751V	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	751	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGTCCTCCTGGCCATGAGACT	0.443000														105			22		0	0	1	0	0
PCSK4	54760	broad.mit.edu	37	19	1483417	1483417	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1483417G>A	uc002ltb.1	-	11	1499	c.1437C>T	c.(1435-1437)tgC>tgT	p.C479C	PCSK4_uc002lsz.2_5'UTR|PCSK4_uc002lta.2_Silent_p.C291C	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	479					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCCGGCGCAGGCCGATA	0.687000														128			40		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51012041	51012041	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012041C>A	uc003bmm.3	-	9	1173	c.1074G>T	c.(1072-1074)caG>caT	p.Q358H	CPT1B_uc003bmk.4_Missense_Mutation_p.Q358H|CPT1B_uc003bml.3_Missense_Mutation_p.Q358H|CPT1B_uc003bmo.3_Missense_Mutation_p.Q358H|CPT1B_uc011asa.2_Missense_Mutation_p.Q324H|CPT1B_uc003bmn.3_Missense_Mutation_p.Q358H|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Missense_Mutation_p.Q155H|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	358					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCTCCAGATCCTGAGGCTTGA	0.612000														119			26		6.32553e-13	7.33687e-13	1	1	0
SHANK1	50944	broad.mit.edu	37	19	51165631	51165631	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51165631C>T	uc002psx.1	-	22	6096	c.6077G>A	c.(6076-6078)gGa>gAa	p.G2026E	SHANK1_uc002psw.1_Missense_Mutation_p.G1410E	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	2026			G -> R (in a colorectal cancer sample; somatic mutation).		cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.G2026R(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTAGAGGGGTCCGGAAGGCAG	0.716000														38			9		0	0	1	0	0
PAAF1	80227	broad.mit.edu	37	11	73630036	73630036	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73630036T>C	uc001ouk.1	+	9	1011	c.977T>C	c.(976-978)cTa>cCa	p.L326P	PAAF1_uc001oul.1_Missense_Mutation_p.L309P|PAAF1_uc001oum.1_Missense_Mutation_p.L309P	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	326					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GCACCAGTTCTATCCCTGCTA	0.428000														57			20		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98550854	98550854	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98550854C>A	uc003upp.3	+	38	5716	c.5507C>A	c.(5506-5508)gCc>gAc	p.A1836D	TRRAP_uc011kis.2_Missense_Mutation_p.A1818D|TRRAP_uc003upr.3_Missense_Mutation_p.A1535D	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1836					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCAGTACGCCACGCTGCTG	0.622000														143			34		3.11337e-16	3.70767e-16	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49168980	49168980	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49168980G>T	uc003cwe.3	-	4	935	c.636C>A	c.(634-636)tcC>tcA	p.S212S	LAMB2_uc003cwf.1_Silent_p.S212S	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	212	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGCCTTCAGTGGATGGCTCAA	0.597000														368			68		4.98926e-31	6.28886e-31	1	1	0
ABCF1	23	broad.mit.edu	37	6	30553100	30553100	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30553100C>T	uc003nql.3	+	14	1550	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ABCF1_uc003nqk.2_Silent_p.N486N|ABCF1_uc003nqm.3_Silent_p.N447N	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	485	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TGGACCTCAACGCTGTCATCT	0.562000														131			35		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26951339	26951339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26951339G>A	uc002rhn.2	+	1	1251	c.1088G>A	c.(1087-1089)tGc>tAc	p.C363Y		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	363					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGCTGCCTGTGCAGCGGGGCG	0.716000														20			11		0	0	1	0	0
EPHX3	79852	broad.mit.edu	37	19	15342604	15342604	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15342604G>A	uc002nap.3	-	1	521	c.312C>T	c.(310-312)caC>caT	p.H104H	EPHX3_uc002naq.3_Silent_p.H104H	NM_024794	NP_079070	Q9H6B9	EPHX3_HUMAN	Homo sapiens epoxide hydrolase 3 (EPHX3), transcript variant 1, mRNA.	104						extracellular region	hydrolase activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						CAGGGAAGCCGTGCAGAAACA	0.667000														139			31		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325388	9325388	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9325388G>A	uc002mla.2	-	0	160	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41R(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TGATGAGCAGGTTCCCCAGCA	0.527000														174			37		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186057863	186057863	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186057863A>C	uc001grq.1	+	62	9932	c.9703A>C	c.(9703-9705)Aaa>Caa	p.K3235Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3235	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAAGCCCAGAAATATTACTT	0.328000														25			6		0	0	1	0	0
YWHAH	7533	broad.mit.edu	37	22	32352162	32352162	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32352162C>T	uc003alz.3	+	1	365	c.124C>T	c.(124-126)Cga>Tga	p.R42*	YWHAH_uc003ama.3_5'UTR|YWHAH_uc010gwm.3_Nonsense_Mutation_p.R29*	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	42					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CAATGAAGATCGAAATCTCCT	0.448000														92			31		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	23002959	23002959	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23002959G>A	uc001yus.3	+	30	3785	c.3681G>A	c.(3679-3681)aaG>aaA	p.K1227K	CYFIP1_uc001yut.3_Silent_p.K1227K|CYFIP1_uc001yuu.3_Silent_p.K796K|CYFIP1_uc001yuv.3_Silent_p.K421K	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1227					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTACCTGAAGTCAGGCGACG	0.567000														127			38		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612071	53612071	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612071C>T	uc002qax.3	-	6	1720	c.1371G>A	c.(1369-1371)gaG>gaA	p.E457E	ZNF415_uc010yds.2_Silent_p.E409E|ZNF415_uc010ydt.2_Silent_p.E409E|ZNF415_uc002qau.3_Silent_p.E396E|ZNF415_uc002qav.3_Silent_p.E421E|ZNF415_uc002qaw.3_Silent_p.E409E|ZNF415_uc002qay.3_Silent_p.E396E|ZNF415_uc002qaz.3_Silent_p.E457E|ZNF415_uc002qba.3_Silent_p.E179E			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	p.T457T(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TGTAAGGTTTCTCTCCAGTAT	0.408000														93			20		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44108915	44108915	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108915G>A	uc002ikc.3	-	14	3716	c.3245C>T	c.(3244-3246)tCg>tTg	p.S1082L	KANSL1_uc002ikd.3_Missense_Mutation_p.S1082L|KANSL1_uc010dav.3_Missense_Mutation_p.S1081L|KANSL1_uc010wkb.2_Missense_Mutation_p.S413L|KANSL1_uc010wkc.2_Missense_Mutation_p.S350L	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1082						MLL1 complex	protein binding										AATGGGAGGCGAGGTGGGCGC	0.642000														96			22		0	0	1	0	0
KCNJ16	3773	broad.mit.edu	37	17	68128331	68128331	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68128331C>T	uc002jiq.3	+	2	339	c.199C>T	c.(199-201)Cga>Tga	p.R67*	KCNJ16_uc002jin.3_Nonsense_Mutation_p.R35*|KCNJ16_uc002jio.3_Nonsense_Mutation_p.R35*|KCNJ16_uc002jip.3_Nonsense_Mutation_p.R35*|KCNJ16_uc021uch.1_Nonsense_Mutation_p.R35*	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	35					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.V66M(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGCAAGAAGACGATTACTTCA	0.453000														187			10		0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74357693	74357693	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74357693C>T	uc003hhb.3	+	7	979	c.948C>T	c.(946-948)aaC>aaT	p.N316N		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	316	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)			GCATAATTAACTCAAACAAAG	0.378000														91			26		0	0	1	0	0
USP5	8078	broad.mit.edu	37	12	6970734	6970734	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6970734C>T	uc001qri.4	+	12	1685	c.1626C>T	c.(1624-1626)gtC>gtT	p.V542V	USP5_uc001qrh.4_Silent_p.V542V	NM_001098536	NP_001092006	P45974	UBP5_HUMAN	Homo sapiens ubiquitin specific peptidase 5 (isopeptidase T) (USP5), transcript variant 1, mRNA.	542					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						CTGAGCAGGTCGATGACTTCT	0.622000														163			24		0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48538862	48538862	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48538862G>A	uc001rrb.2	+	22	2528	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	PFKM_uc001rra.2_Missense_Mutation_p.A366T|PFKM_uc001rrc.3_Missense_Mutation_p.A681T|PFKM_uc001rrd.3_Missense_Mutation_p.A366T|PFKM_uc001rre.2_Missense_Mutation_p.A681T|PFKM_uc021qxj.1_Missense_Mutation_p.A681T|PFKM_uc001rrg.2_Missense_Mutation_p.A650T	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	681					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TAAGATGGGCGCCAAGGCTAT	0.483000														134			21		0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44059072	44059072	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44059072C>A	uc001zsu.3	+	7	1140	c.992C>A	c.(991-993)gCt>gAt	p.A331D	PDIA3_uc010bdp.3_Missense_Mutation_p.A311D|PDIA3_uc010ued.2_Missense_Mutation_p.A105D	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	331					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		ATCAGAACTGCTAAAGGAGAG	0.428000														181			12		7.03913e-09	7.75971e-09	1	1	0
OC90	729330	broad.mit.edu	37	8	133053837	133053837	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133053837G>A	uc003ytg.2	-	2	231	c.231C>T	c.(229-231)gaC>gaT	p.D77D	OC90_uc011lix.1_Silent_p.D93D	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	93	Phospholipase A2-like 1.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGTCTTCAAAGTCTCGGGGGC	0.512000														65			17		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038646	128038646	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128038646T>C	uc011kol.1	-	6	747	c.641A>G	c.(640-642)gAt>gGt	p.D214G	IMPDH1_uc011kom.1_Missense_Mutation_p.D209G|IMPDH1_uc003vmt.2_Missense_Mutation_p.D189G|IMPDH1_uc003vmu.2_Missense_Mutation_p.D299G|IMPDH1_uc003vmx.2_Missense_Mutation_p.D222G|IMPDH1_uc003vmy.2_Missense_Mutation_p.D230G|IMPDH1_uc003vmw.2_Missense_Mutation_p.D289G|IMPDH1_uc011kon.1_Missense_Mutation_p.D266G|IMPDH1_uc003vmv.2_Missense_Mutation_p.D263G	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	214	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTCATCGCAATCATTGACGAT	0.547000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		189			41		0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095869	145095869	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145095869A>G	uc011lkw.2	+	2	1269	c.1167A>G	c.(1165-1167)ccA>ccG	p.P389P	SPATC1_uc011lkx.2_Silent_p.P389P	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	389										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCACTCCCCACCTCGTACCT	0.612000														145			30		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877997	24877997	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877997C>A	uc001wpf.4	+	3	1315	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	333					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGATAAACTCCTCTTCCAACC	0.592000														64			11		1.58986e-06	1.69271e-06	1	1	0
C15orf54	400360	broad.mit.edu	37	15	39544706	39544706	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39544706C>T	uc001zkg.2	+	1	738	c.370C>T	c.(370-372)Cct>Tct	p.P124S	C15orf54_uc021sjb.1_Missense_Mutation_p.P124S	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	124										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		TGCACAGAAACCTCAGTCTCC	0.458000														174			37		0	0	1	0	0
ZNF394	84124	broad.mit.edu	37	7	99097579	99097579	+	Silent	SNP	G	A	A	rs142631169	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99097579G>A	uc003uqs.3	-	0	299	c.138C>T	c.(136-138)ccC>ccT	p.P46P	ZNF394_uc003uqt.3_5'UTR|ZNF394_uc003uqu.1_Silent_p.P46P|ZNF394_uc022ahz.1_Non-coding_Transcript	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN	Homo sapiens zinc finger protein 394 (ZNF394), mRNA.	46					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCCAACTTCCGGGTGAGTCTT	0.637000														168			41		0	0	1	0	0
SLC17A9	63910	broad.mit.edu	37	20	61594714	61594714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61594714G>A	uc002yea.4	+	5	902	c.718G>A	c.(718-720)Gct>Act	p.A240T	SLC17A9_uc002ydz.4_Missense_Mutation_p.A234T|SLC17A9_uc011aap.1_Missense_Mutation_p.A260T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	240					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCGGAAGCCTGCTGTCTGGTG	0.662000														63			9		0	0	1	0	0
MIR429	554210	broad.mit.edu	37	1	1104462	1104462	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1104462C>T	uc010nyf.1	+	0		c.78C>T								Homo sapiens microRNA 429 (MIR429), microRNA.																		ACCGTCCATCCGCTGCCTGAT	0.622000														68			8		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046143	36046143	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36046143C>T	uc002oal.1	-	14	2280	c.2251G>A	c.(2251-2253)Gat>Aat	p.D751N	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	751					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TTGGCAGCATCTGAGCCAGCG	0.602000														122			34		0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391298	33391298	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33391298C>T	uc011dri.2	+	1	307	c.112C>T	c.(112-114)Ccg>Tcg	p.P38S	SYNGAP1_uc003oeo.1_Missense_Mutation_p.P23S|SYNGAP1_uc010juy.3_Missense_Mutation_p.P23S	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	38					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CGTTCATTCCCCGTATGATCG	0.542000														247			42		0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128627035	128627035	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128627035C>A	uc002tpl.3	-	5	968	c.717G>T	c.(715-717)aaG>aaT	p.K239N	AMMECR1L_uc002tpm.3_Missense_Mutation_p.K239N	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	239	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CACCTTGTTCCTTAGCAACCT	0.408000														74			31		2.81731e-10	3.16624e-10	1	1	0
ORMDL2	29095	broad.mit.edu	37	12	56212807	56212807	+	Silent	SNP	C	T	T	rs139659445	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56212807C>T	uc001shw.1	+	1	116	c.24C>T	c.(22-24)agC>agT	p.S8S	DNAJC14_uc009zoa.2_5'Flank|DNAJC14_uc001shs.3_5'Flank|DNAJC14_uc001sht.3_5'Flank|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA.	8				S -> N (in Ref. 6; BAD96900).	ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						TGGCACACAGCGAAGTAAACC	0.527000														78			12		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50203964	50203964	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50203964G>A	uc010eng.3	+	4	621	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	CPT1C_uc002ppl.4_Missense_Mutation_p.R102Q|CPT1C_uc002ppi.3_Missense_Mutation_p.R19Q|CPT1C_uc002ppk.3_Missense_Mutation_p.R102Q|CPT1C_uc010enh.3_Missense_Mutation_p.R102Q|CPT1C_uc002ppj.3_Missense_Mutation_p.R102Q|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	102					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CACGGGCTCCGGGGGGTCCTG	0.672000														336			32		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21121149	21121149	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21121149G>T	uc002kum.4	-	15	2671	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	NPC1_uc010xaz.2_Nonsense_Mutation_p.C532*|NPC1_uc010xba.1_Nonsense_Mutation_p.C644*	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	799					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTCTGACACAGCAAAAGATGT	0.443000														121			26		8.24728e-16	9.79314e-16	1	1	0
NMBR	4829	broad.mit.edu	37	6	142409766	142409766	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142409766C>T	uc003qiu.3	-	0	171	c.30G>A	c.(28-30)tcG>tcA	p.S10S		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	10					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGGTGGTCACCGAGAGGTTGG	0.617000														72			15		0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53338106	53338106	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53338106C>A	uc002ehb.3	+	29	6352	c.6188C>A	c.(6187-6189)tCt>tAt	p.S2063Y	CHD9_uc002egy.3_Missense_Mutation_p.S2063Y|CHD9_uc002ehc.3_Missense_Mutation_p.S2063Y|CHD9_uc002ehf.3_Missense_Mutation_p.S1177Y|CHD9_uc002ehg.2_Missense_Mutation_p.S1177Y|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2063					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAGAAGAATCTATGTCTTCT	0.408000														26			5		0.184627	0.184976	1	1	0
ATM	472	broad.mit.edu	37	11	108201008	108201008	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108201008C>T	uc001pkb.1	+	49	7760	c.7375C>T	c.(7375-7377)Cgt>Tgt	p.R2459C	ATM_uc009yxr.1_Missense_Mutation_p.R2459C|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.R1111C|ATM_uc001pkg.1_Missense_Mutation_p.R816C	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2459	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GAAAGAGGATCGTAAACGCTT	0.393000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				103			26		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121060582	121060582	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121060582C>A	uc010rzo.2	+	21	6360	c.6360C>A	c.(6358-6360)agC>agA	p.S2120R		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2120					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACGGCAAGAGCTGCAGAGGTA	0.572000														110			21		2.4624e-09	2.73094e-09	1	1	0
ZNF619	285267	broad.mit.edu	37	3	40528333	40528333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528333C>T	uc011azb.2	+	5	759	c.452C>T	c.(451-453)gCa>gTa	p.A151V	ZNF619_uc011aza.2_Missense_Mutation_p.A53V|ZNF619_uc011azc.2_Missense_Mutation_p.A111V|ZNF619_uc011azd.2_Missense_Mutation_p.A67V|ZNF619_uc003ckj.3_Missense_Mutation_p.A95V|ZNF619_uc021wwh.1_Missense_Mutation_p.A102V	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAAAAAACTGCACAGCTAAAC	0.418000														94			17		0	0	1	0	0
ESPNP	284729	broad.mit.edu	37	1	17034411	17034411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17034411G>A	uc001azn.1	-	1	357	c.243C>T	c.(241-243)ggC>ggT	p.G81G	ESPNP_uc010ocj.1_Silent_p.G11G					Homo sapiens espin pseudogene (ESPNP), non-coding RNA.																		CCGGGCTGTGGCCCATCTGCG	0.756000														28			3		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6973184	6973184	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6973184T>C	uc002knm.3	-	46	6740	c.6646A>G	c.(6646-6648)Agt>Ggt	p.S2216G	LAMA1_uc010wzj.2_Missense_Mutation_p.S1692G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2216	Laminin G-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCTTTACACTCAGTGAACCA	0.378000														139			7		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53005079	53005079	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53005079G>T	uc002pzp.4	+	4	226	c.-18_splice	c.e4-1			NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TCCACATACAGGATTGATTTC	0.438000														103			31		8.58068e-18	1.03204e-17	1	1	0
DAO	1610	broad.mit.edu	37	12	109293208	109293208	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109293208G>A	uc001tnr.4	+	9	1540	c.869G>A	c.(868-870)cGg>cAg	p.R290Q	DAO_uc001tnq.4_Missense_Mutation_p.R224Q|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	290					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding	p.R290R(1)|p.R290W(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCCCAGATTCGGCTAGAAAGA	0.483000														53			8		0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458261	248458261	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248458261A>G	uc010pzj.2	-	0	620	c.620T>C	c.(619-621)gTc>gCc	p.V207A		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GGAAAAGGGGACCAGGAGCAT	0.547000														159			59		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41387041	41387041	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41387041C>T	uc001rmm.1	+	16	2196	c.2083C>T	c.(2083-2085)Cca>Tca	p.P695S	CNTN1_uc001rmn.1_Missense_Mutation_p.P684S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	695	Fibronectin type-III 1.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GCCCAGTATACCATCTAACAG	0.393000														65			19		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73233803	73233803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73233803G>A	uc004aid.3	-	15	2546	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	TRPM3_uc004ahu.3_Missense_Mutation_p.R598C|TRPM3_uc004ahv.3_Missense_Mutation_p.R570C|TRPM3_uc004ahw.3_Missense_Mutation_p.R640C|TRPM3_uc004ahx.3_Missense_Mutation_p.R627C|TRPM3_uc004ahy.3_Missense_Mutation_p.R630C|TRPM3_uc004ahz.3_Missense_Mutation_p.R617C|TRPM3_uc004aia.3_Missense_Mutation_p.R615C|TRPM3_uc004aib.3_Missense_Mutation_p.R605C|TRPM3_uc004aic.3_Missense_Mutation_p.R768C	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	793						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGTTCTTGCGCATGCGGAGC	0.622000														136			28		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170959134	170959134	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170959134C>T	uc010plz.2	+	10	1172	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	C1orf129_uc001ghg.3_Missense_Mutation_p.P340S|C1orf129_uc009wvy.3_Missense_Mutation_p.P147S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	340							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTACCCAGTTCCAGCAGACGA	0.473000														67			12		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671453	25671453	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25671453C>T	uc003grr.3	+	6	901	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC34A2_uc003grs.3_Missense_Mutation_p.L273F|SLC34A2_uc010iev.3_Missense_Mutation_p.L273F	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	274					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTTCACAAAGCTCATTGTCCA	0.463000			T	ROS1	NSCLC									210			48		0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832603	11832603	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11832603C>T	uc002msm.2	-	3	1872	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L	ZNF823_uc010xmd.1_Silent_p.L400L|ZNF823_uc010dyi.1_Silent_p.L538L	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TACATTCATACAGCTTCTCTC	0.418000										HNSCC(68;0.2)				102			19		0	0	1	0	0
SH3BGRL3	83442	broad.mit.edu	37	1	26607289	26607289	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26607289C>A	uc001blu.3	+	1	516	c.82C>A	c.(82-84)Ctg>Atg	p.L28M		NM_031286	NP_112576	Q9H299	SH3L3_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein like 3 (SH3BGRL3), mRNA.	28	Glutaredoxin.				cell redox homeostasis	cytoplasm|nucleus	electron carrier activity|protein disulfide oxidoreductase activity						all_cancers(24;1.16e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.22e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00751)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCGAATCCTGGATGGGAA	0.597000														78			23		7.41877e-09	8.17068e-09	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140590692	140590692	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590692A>G	uc003liz.3	+	0	2402	c.2213A>G	c.(2212-2214)gAc>gGc	p.D738G	PCDHB12_uc011dak.2_Missense_Mutation_p.D401G|PCDHB13_uc003lja.1_5'Flank	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATCTGGTGGACGTGAGTGGC	0.602000														363			75		0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130865959	130865959	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130865959G>A	uc004btb.3	+	5	709	c.589_splice	c.e5-1	p.I197_splice	SLC25A25_uc004btc.3_Splice_Site_p.I183_splice|SLC25A25_uc004btd.3_Splice_Site_p.I195_splice|SLC25A25_uc004bte.3_Splice_Site_p.I163_splice|SLC25A25_uc004btf.3_Splice_Site_p.I60_splice	NM_001006641	NP_001006644	Q6KCM7	SCMC2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 (SLC25A25), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	163					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TTTCCTCACAGATCTTTGATG	0.607000														131			21		0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37382697	37382697	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37382697G>T	uc021utr.1	-	5	1306	c.1239C>A	c.(1237-1239)gcC>gcA	p.A413A	ZNF345_uc002oez.2_Intron|ZNF829_uc002ofa.2_Silent_p.A332A	NM_001171979	NP_001165450	Q3KNS6	ZN829_HUMAN	Homo sapiens zinc finger protein 829 (ZNF829), transcript variant 1, mRNA.	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTATTAAAGGCCTTCCCAC	0.413000														65			9		3.09899e-07	3.33423e-07	1	1	0
DPEP1	1800	broad.mit.edu	37	16	89703612	89703612	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89703612C>T	uc010cin.3	+	7	795	c.592_splice	c.e7-1	p.R198_splice	DPEP1_uc002fnr.4_Splice_Site_p.R198_splice|DPEP1_uc002fns.4_Splice_Site_p.R198_splice	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	198					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)	GTCTTCCCAGCGTGTGGTGAA	0.652000														195			10		0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332465	144332465	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144332465C>T	uc003yxw.3	+	1	810	c.452C>T	c.(451-453)gCc>gTc	p.A151V	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.A151V	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	151					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TGCGGGAAAGCCTTTAACTGC	0.587000														271			56		0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	33989288	33989288	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33989288T>C	uc003jij.3	-	4	1155	c.1059A>G	c.(1057-1059)atA>atG	p.I353M	AMACR_uc003jig.3_Missense_Mutation_p.I353M|AMACR_uc003jih.3_3'UTR	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	353					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATTCTTCAAGTATCTCCTCAG	0.453000														110			22		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281915	152281915	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152281915T>C	uc001ezu.1	-	2	5483	c.5447A>G	c.(5446-5448)cAc>cGc	p.H1816R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1816	Ser-rich.		H -> Q (in dbSNP:rs12073613).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCTGGGTGTCCACGAAT	0.597000									Ichthyosis					677			243		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535872	24535872	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24535872C>T	uc003jgr.2	-	3	1092	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	196	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A196P(2)|p.S195R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGACTCTGGCGCTGTTCCCA	0.453000										HNSCC(23;0.051)				95			22		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704625	41704625	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704625G>A	uc002opw.3	+	4	721	c.666G>A	c.(664-666)atG>atA	p.M222I	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	222					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTACGAGATGTTCTCCTGGT	0.627000														296			16		0	0	1	0	0
CRYBB2	1415	broad.mit.edu	37	22	25627693	25627693	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25627693G>A	uc003abp.1	+	5	620	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	191	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CGCCGTATCCGCGACATGCAG	0.652000														243			49		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	131781469	131781469	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:131781469C>T	uc010sci.2	+	1	425	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	NTM_uc001qgm.3_Missense_Mutation_p.R32C|NTM_uc010sch.2_Missense_Mutation_p.R23C|NTM_uc010scj.2_5'UTR|NTM_uc001qgo.3_Missense_Mutation_p.R32C|NTM_uc001qgq.3_Missense_Mutation_p.R32C|NTM_uc001qgp.3_Missense_Mutation_p.R32C	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	32					cell adhesion|neuron recognition	anchored to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGTGCCCGTGCGCAGCGGAGA	0.617000											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		211			10		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39063833	39063833	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39063833T>G	uc002oit.3	+	95	14145	c.14015T>G	c.(14014-14016)tTt>tGt	p.F4672C	RYR1_uc002oiu.3_Missense_Mutation_p.F4667C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4672					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)	CTGGTAATCTTTAAGCGGGAG	0.592000														108			34		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587163	55587163	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587163G>A	uc010rin.2	+	0	58	c.58G>A	c.(58-60)Gat>Aat	p.D20N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S19*(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGCTTCTCAGATTACCCAGA	0.428000														96			41		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52556948	52556948	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556948G>A	uc003dej.3	+	61	6976	c.6902G>A	c.(6901-6903)cGt>cAt	p.R2301H	STAB1_uc003dek.1_Missense_Mutation_p.R316H|STAB1_uc003del.3_Missense_Mutation_p.R188H	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2301	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TACTGCTTCCGTGTGCAAGGT	0.602000														183			32		0	0	1	0	0
TMTC4	84899	broad.mit.edu	37	13	101257327	101257327	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101257327T>C	uc001vot.3	-	18	2517	c.2204A>G	c.(2203-2205)gAc>gGc	p.D735G	TMTC4_uc001vou.3_Missense_Mutation_p.D716G|TMTC4_uc010tja.2_Missense_Mutation_p.D605G	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	716						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCCGTGGGGTCAAGCTGCAA	0.433000														190			34		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52538065	52538065	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52538065G>T	uc003dej.3	+	9	1118	c.1044G>T	c.(1042-1044)gaG>gaT	p.E348D	STAB1_uc003dei.1_Missense_Mutation_p.E348D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	348					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGAAAGCGAGGTGGGGGATG	0.711000														30			9		1.12685e-05	1.18529e-05	1	1	0
SUSD4	55061	broad.mit.edu	37	1	223441990	223441990	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223441990G>A	uc001hnx.3	-	2	1023	c.389C>T	c.(388-390)gCt>gTt	p.A130V	SUSD4_uc001hny.4_Missense_Mutation_p.A130V|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.A130V|SUSD4_uc010pux.1_Missense_Mutation_p.A59V	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	130	Sushi 2.					integral to membrane		p.D129N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ATGAATCTCAGCATCTTCGAT	0.388000														108			28		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43601943	43601943	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43601943C>A	uc001jal.3	+	4	1177	c.987C>A	c.(985-987)ttC>ttA	p.F329L	RET_uc001jak.1_Missense_Mutation_p.F329L|RET_uc010qez.1_Missense_Mutation_p.F75L	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	329					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCAGACCTTCCGGGTGGAAC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					68			9		1.12685e-05	1.18529e-05	1	1	0
IRX1	79192	broad.mit.edu	37	5	3600738	3600738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:3600738C>T	uc003jde.3	+	2	1380	c.1328C>T	c.(1327-1329)cCc>cTc	p.P443L		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	443						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GACCTCGTCCCCAGGCCAGAT	0.617000														143			28		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569067	49569067	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49569067G>A	uc021wxz.1	+	2	1592	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	DAG1_uc021wya.1_Missense_Mutation_p.A375T|DAG1_uc021wyb.1_Missense_Mutation_p.A375T|DAG1_uc021wyc.1_Missense_Mutation_p.A375T|DAG1_uc021wyd.1_Missense_Mutation_p.A375T|DAG1_uc021wye.1_Missense_Mutation_p.A375T|DAG1_uc021wyf.1_Missense_Mutation_p.A375T|DAG1_uc021wyg.1_Missense_Mutation_p.A375T|DAG1_uc021wyh.1_Missense_Mutation_p.A375T|DAG1_uc021wyi.1_Missense_Mutation_p.A375T|DAG1_uc021wyj.1_Missense_Mutation_p.A375T|DAG1_uc021wyk.1_Missense_Mutation_p.A375T|DAG1_uc003cxc.4_Missense_Mutation_p.A375T	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	375	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GACTCGAGGCGCCATTATTCA	0.592000														232			61		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205039089	205039089	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205039089C>T	uc001hbr.3	+	17	2600	c.2331C>T	c.(2329-2331)agC>agT	p.S777S	CNTN2_uc001hbq.1_Silent_p.S668S|CNTN2_uc001hbs.3_Silent_p.S565S	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	777	Fibronectin type-III 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.E776Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCAACGAGAGCGTCCGGCCCT	0.647000														247			97		0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101604222	101604222	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101604222G>T	uc001kqf.2	+	28	4126	c.3987_splice	c.e28+1	p.K1329_splice		NM_000392	NP_000383	Q92887	MRP2_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA.	1329	ABC transporter 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GCATGGAGAAGGTAGGTGGAG	0.517000														134			33		9.65021e-13	1.11782e-12	1	1	0
TM9SF4	9777	broad.mit.edu	37	20	30747903	30747903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30747903C>T	uc002wxj.2	+	15	1913	c.1678C>T	c.(1678-1680)Ctg>Ttg	p.L560L	TM9SF4_uc010zts.1_Silent_p.L467L|TM9SF4_uc002wxk.2_Silent_p.L543L	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	560						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACTTCCAGCTGTGTGCAGA	0.537000														103			25		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16049816	16049816	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16049816T>C	uc002gpo.3	-	9	1225	c.956A>G	c.(955-957)gAg>gGg	p.E319G	NCOR1_uc002gpn.3_Missense_Mutation_p.E319G|NCOR1_uc002gpp.1_Missense_Mutation_p.E210G|NCOR1_uc002gpr.3_Missense_Mutation_p.E210G|NCOR1_uc002gps.2_Missense_Mutation_p.E328G|NCOR1_uc010cpb.2_Missense_Mutation_p.E328G|NCOR1_uc010coz.2_Missense_Mutation_p.E135G|NCOR1_uc010cpa.2_Missense_Mutation_p.E319G	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	319	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CACTTTTTTCTCCCATGCCTC	0.343000														58			22		0	0	1	0	0
IFIT3	3437	broad.mit.edu	37	10	91098786	91098786	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91098786A>T	uc001kgf.3	+	1	603	c.374A>T	c.(373-375)aAg>aTg	p.K125M	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron|IFIT3_uc001kgg.3_Missense_Mutation_p.K125M	NM_001549	NP_001540	O14879	IFIT3_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 3 (IFIT3), transcript variant 1, mRNA.	125					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CAAACCTGCAAGAAATTTTCA	0.428000														117			21		0	0	1	0	0
RDX	5962	broad.mit.edu	37	11	110124728	110124728	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110124728T>C	uc009yxy.3	-	8	1212	c.902A>G	c.(901-903)gAa>gGa	p.E301G	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.E301G|RDX_uc010rwe.2_Missense_Mutation_p.E165G	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	301					actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding	p.I300V(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTGTTGTACTTCAATAGTATC	0.418000														78			15		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005103	42005103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005103C>T	uc011kbh.2	-	14	3659	c.3568G>A	c.(3568-3570)Gcc>Acc	p.A1190T	GLI3_uc011kbg.2_Missense_Mutation_p.A1131T	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1190					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AACCCAAAGGCGCGAGTCTGC	0.657000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					323			91		0	0	1	0	0
FAM162A	26355	broad.mit.edu	37	3	122126163	122126163	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122126163G>A	uc003eez.3	+	3	389	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FAM162A_uc011bjq.1_Missense_Mutation_p.R100Q	NM_014367	NP_055182	Q96A26	F162A_HUMAN	Homo sapiens family with sequence similarity 162, member A (FAM162A), mRNA.	100						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6						AACAAGATGCGAGTGAAGATC	0.423000														74			9		0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37390266	37390266	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:37390266C>T	uc001zjr.3	-	1	1221	c.147G>A	c.(145-147)caG>caA	p.Q49Q	MEIS2_uc001zjl.3_Silent_p.Q36Q|MEIS2_uc010ucj.2_Silent_p.Q36Q|MEIS2_uc001zjm.3_5'UTR|MEIS2_uc001zjn.3_5'UTR|MEIS2_uc001zjo.3_Silent_p.Q49Q|MEIS2_uc001zjp.3_Silent_p.Q49Q|MEIS2_uc001zjs.3_Silent_p.Q49Q|MEIS2_uc001zju.3_Silent_p.Q36Q|MEIS2_uc001zjt.3_Silent_p.Q49Q	NM_170675	NP_733775	O14770	MEIS2_HUMAN	Homo sapiens Meis homeobox 2 (MEIS2), transcript variant c, mRNA.	49					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CGCCGTAGTGCTGTGTGGCGT	0.672000														168			36		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3842924	3842924	+	Silent	SNP	G	A	A	rs150835407		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3842924G>A	uc002wjw.4	+	4	661	c.489G>A	c.(487-489)acG>acA	p.T163T	MAVS_uc002wjx.4_Silent_p.T22T|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	163					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCCTGCAGACGCTCAGCCCCA	0.587000														86			18		0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44470901	44470901	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470901G>A	uc002lck.3	-	1	328	c.141C>T	c.(139-141)agC>agT	p.S47S	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Silent_p.S47S|PIAS2_uc002lcm.3_Silent_p.S47S|PIAS2_uc002lcn.1_Silent_p.S51S	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	47					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GGCTGCAGCCGCTCTTCAATA	0.443000														165			19		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24470603	24470603	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24470603C>A	uc001wli.4	+	5	672	c.542C>A	c.(541-543)cCt>cAt	p.P181H	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc001wld.4_Intron|DHRS4_uc001wle.4_Intron|DHRS4_uc001wlc.4_Intron|DHRS4_uc021rrb.1_Missense_Mutation_p.P80H|DHRS4_uc021rrc.1_Missense_Mutation_p.P39H|DHRS4_uc021rre.1_Missense_Mutation_p.P119H|DHRS4_uc010tnt.2_Missense_Mutation_p.P104H|DHRS4_uc010alb.3_Missense_Mutation_p.P55H	NM_198083	NP_001180565	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 1, mRNA.	181						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGCTTCAGTCCTTACAATGTC	0.478000														223			36		8.20599e-20	9.98962e-20	1	1	0
IMPG1	3617	broad.mit.edu	37	6	76744474	76744474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76744474C>T	uc003pik.1	-	2	462	c.332G>A	c.(331-333)cGg>cAg	p.R111Q		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	111					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.R111Q(2)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				CAGAAAGATCCGATATGCTTC	0.488000														105			19		0	0	1	0	0
SREK1	140890	broad.mit.edu	37	5	65474603	65474603	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65474603G>A	uc003jun.3	+	11	1902	c.1782G>A	c.(1780-1782)aaG>aaA	p.K594K	SREK1_uc010iwy.3_Silent_p.K477K|SREK1_uc003juo.3_Silent_p.K478K	NM_001077199	NP_631907	Q8WXA9	SREK1_HUMAN	Homo sapiens splicing regulatory glutamine/lysine-rich protein 1 (SREK1), transcript variant 1, mRNA.	478					RNA splicing|mRNA processing	spliceosomal complex	nucleic acid binding|nucleotide binding|protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)	9						TAGATGACAAGGATGCACCAA	0.383000														76			17		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089523	9089523	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9089523C>T	uc002mkp.3	-	0	2496	c.2292G>A	c.(2290-2292)aaG>aaA	p.K764K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	764	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						CTGAGCTGGGCTTTGTCTTTG	0.478000														228			47		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596004	36596004	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36596004G>T	uc021qgb.1	+	0	1150	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Nonsense_Mutation_p.E384*	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	384					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAATCAAAAGAGATTTTTGT	0.478000									Familial Hemophagocytic Lymphohistiocytosis					137			27		2.49675e-24	3.10231e-24	1	1	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204445	103204445	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204445G>T	uc004bay.2	+	0	258	c.225G>T	c.(223-225)gaG>gaT	p.E75D	MSANTD3-TMEFF1_uc022bkz.1_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_uc004baw.3_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_uc022bla.1_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_uc022blb.1_Missense_Mutation_p.E75D|MSANTD3-TMEFF1_uc004bax.3_Non-coding_Transcript	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	0					multicellular organismal development	integral to membrane|plasma membrane											AGTGCTGGGAGAACATCAAGG	0.547000														104			6		0.00198382	0.00202356	1	1	0
VDR	7421	broad.mit.edu	37	12	48238712	48238712	+	Silent	SNP	G	A	A	rs75590999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48238712G>A	uc001rql.3	-	9	1652	c.1251C>T	c.(1249-1251)atC>atT	p.I417I	VDR_uc001rqm.3_Silent_p.I367I|VDR_uc001rqn.3_Silent_p.I367I|VDR_uc010slq.2_Silent_p.I335I	NM_001017536	NP_001017536	P11473	VDR_HUMAN	Homo sapiens vitamin D (1,25- dihydroxyvitamin D3) receptor (VDR), transcript variant 3, mRNA.	367	Ligand-binding.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGCGGCAGCGGATGTACGTCT	0.632000														293			52		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186425686	186425686	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186425686C>T	uc003ixw.4	-	6	972	c.848G>A	c.(847-849)gGc>gAc	p.G283D	PDLIM3_uc003ixx.4_Missense_Mutation_p.G235D|PDLIM3_uc010isi.3_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	283						sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		GCCTGAACCGCCATGGACTTT	0.532000														68			11		0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872963	35872963	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35872963G>A	uc001wtf.4	-	1	379	c.269C>T	c.(268-270)aCc>aTc	p.T90I		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	90					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CACTTCCATGGTCAGTGCCTT	0.607000														52			11		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096798	143096798	+	Missense_Mutation	SNP	G	A	A	rs140233341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143096798G>A	uc003wcz.3	-	3	868	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	261	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.R261R(1)		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)				CAGTGGCACCGTCCTACAGGC	0.657000														140			29		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71184618	71184618	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71184618G>A	uc001oqn.3	+	7	678	c.552G>A	c.(550-552)ccG>ccA	p.P184P	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	184	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGCAGCCCGCACATCGACA	0.637000														94			30		0	0	1	0	0
CXorf21	80231	broad.mit.edu	37	X	30577645	30577645	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30577645C>T	uc022bui.1	-	0	828	c.828G>A	c.(826-828)ttG>ttA	p.L276L	CXorf21_uc004dcg.2_Silent_p.L276L	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	276								p.L276S(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						ACATCAATTGCAATAGGCGGC	0.388000														79			14		0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141384657	141384657	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384657G>A	uc003lmf.4	-	3	1193	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GNPDA1_uc003lmg.4_Missense_Mutation_p.A145V|GNPDA1_uc010jgh.3_Missense_Mutation_p.A145V|GNPDA1_uc003lmh.4_Missense_Mutation_p.A111V	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	145					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTTGAAGGCAATGTGTCC	0.562000														50			10		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70557354	70557354	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70557354T>G	uc002ezc.3	-	0	104	c.93A>C	c.(91-93)gaA>gaC	p.E31D	COG4_uc002ezd.3_Missense_Mutation_p.E31D|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	27	Interacts with SCFD1.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CAGCGGAGATTTCGGAGCAGC	0.637000														110			25		0	0	1	0	0
STK35	140901	broad.mit.edu	37	20	2097346	2097346	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2097346C>T	uc002wfw.4	+	2	927	c.927C>T	c.(925-927)tgC>tgT	p.C309C	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	309	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						AGGAGCCCTGCTATCTCTGGT	0.473000														193			32		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2775934	2775934	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2775934C>T	uc009zdu.1	+	38	5066	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1526C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1526C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1559C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1524C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1526C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1585C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1526C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1557C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1565C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1554C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1537C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1534C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1537C|CACNA1C_uc001qki.1_Missense_Mutation_p.R1273C|CACNA1C_uc010sea.1_Missense_Mutation_p.R228C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1585					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.P1584S(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTGCCCTCACCGCGTGGCTTG	0.537000														25			3		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72843650	72843650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843650C>T	uc002jlt.1	-	8	1954	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.G600S	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	600					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACGGACTTGCCGATAGTGAAA	0.652000														87			15		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35705570	35705570	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35705570G>A	uc003zxt.2	-	42	6065	c.5711C>T	c.(5710-5712)gCg>gTg	p.A1904V		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1904	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCCACCGCTGCAGGCTT	0.602000														216			46		0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35616231	35616231	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35616231G>T	uc002nxx.2	-	8	2074	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	LGI4_uc002nxy.1_Missense_Mutation_p.L322M|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	494						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			GGAGGCCCCAGCTCCTGCAGT	0.652000														100			26		3.28513e-13	3.82035e-13	1	1	0
C12orf5	57103	broad.mit.edu	37	12	4460469	4460469	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4460469C>T	uc001qmp.3	+	4	386	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_020375	NP_065108	Q9NQ88	TIGAR_HUMAN	Homo sapiens chromosome 12 open reading frame 5 (C12orf5), mRNA.	103						intracellular	fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(1)|large_intestine(1)|lung(5)|skin(3)	10			all cancers(3;1.15e-07)|Colorectal(7;0.00165)|OV - Ovarian serous cystadenocarcinoma(31;0.00596)|COAD - Colon adenocarcinoma(12;0.0229)|GBM - Glioblastoma multiforme(3;0.0266)|STAD - Stomach adenocarcinoma(119;0.206)			GCTAAGTGAGCTGAGGGCCAT	0.478000														103			15		0	0	1	0	0
TRIM49C	642612	broad.mit.edu	37	11	89774511	89774511	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89774511G>T	uc010rua.2	+	7	1481	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_001195234	NP_001182163	P0CI26	T49L2_HUMAN	Homo sapiens tripartite motif containing 49-like 2 (TRIM49L2), mRNA.	384	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						GGTGTATTAAGAATGACATTC	0.423000														142			33		1.45844e-13	1.7027e-13	1	1	0
KIAA0232	9778	broad.mit.edu	37	4	6862743	6862743	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6862743G>T	uc003gjr.4	+	6	1097	c.634G>T	c.(634-636)Gcc>Tcc	p.A212S	KIAA0232_uc003gjq.4_Missense_Mutation_p.A212S	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	212							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATCATCCACAGCCCCACCAGC	0.463000														122			46		5.73435e-26	7.15707e-26	1	1	0
WWC2	80014	broad.mit.edu	37	4	184192281	184192281	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184192281T>C	uc010irx.3	+	15	2631	c.2449T>C	c.(2449-2451)Ttc>Ctc	p.F817L	WWC2_uc003ivk.4_Missense_Mutation_p.F612L|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.F499L|WWC2_uc003ivn.4_Missense_Mutation_p.F332L|WWC2_uc010irz.3_Missense_Mutation_p.F134L	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	817										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CAGTGAGGTTTTCACTCTATG	0.363000														43			8		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242650891	242650891	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242650891C>T	uc002wcd.3	+	3	401	c.376C>T	c.(376-378)Cga>Tga	p.R126*	ING5_uc021vzk.1_Nonsense_Mutation_p.R126*	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	126					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTCCGGAGGGCGAGGGTTAAA	0.398000														175			45		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17664602	17664602	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17664602G>A	uc001baj.2	+	4	506	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K	PADI4_uc009vpc.2_Missense_Mutation_p.E160K	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	160					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AGACAATCTCGAATCTTCTGC	0.527000														126			24		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167138288	167138288	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167138288G>A	uc010fpl.3	-	12	2313	c.1972C>T	c.(1972-1974)Cgt>Tgt	p.R658C	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R540C|SCN9A_uc002uds.1_Missense_Mutation_p.R540C|SCN9A_uc002udt.1_Missense_Mutation_p.R529C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	669						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAACTACAACGCCTTTTCTTG	0.358000														95			8		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100996859	100996859	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100996859T>G	uc001pgh.2	-	1	2411	c.1668A>C	c.(1666-1668)caA>caC	p.Q556H	PGR_uc001pgi.2_Missense_Mutation_p.Q556H|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	556	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CGAAGCTGTATTGTGGGCTCT	0.418000														44			18		0	0	1	0	0
IFIT1	3434	broad.mit.edu	37	10	91162578	91162578	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162578G>A	uc001kgi.3	+	1	694	c.546G>A	c.(544-546)gcG>gcA	p.A182A	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Silent_p.A182A|IFIT1_uc001kgj.3_Silent_p.A151A	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	182					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						CTGGGTATGCGATCTCTGCCT	0.478000														256			63		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883822	152883822	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152883822G>C	uc021ozl.1	+	0	1549	c.1549G>C	c.(1549-1551)Gac>Cac	p.D517H	IVL_uc001fau.3_Missense_Mutation_p.D517H	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	517	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agagcagcaggacggacaact	0.607000														36			10		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160243016	160243016	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160243016A>C	uc002uao.3	-	21	3724	c.3319T>G	c.(3319-3321)Ttg>Gtg	p.L1107V	BAZ2B_uc002uap.3_Missense_Mutation_p.L1071V	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1107	DDT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAAAGCCCAAAACTTTACCA	0.423000														141			45		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18051507	18051507	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18051507A>G	uc021trm.1	+	29	6893	c.6674A>G	c.(6673-6675)gAc>gGc	p.D2225G	MYO15A_uc021trl.1_Missense_Mutation_p.D2223G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2225	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGGCGCTGGACGTGGGCTGC	0.672000														129			24		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433938	179433938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433938G>A	uc021vsy.1	-	274	69442	c.69217C>T	c.(69217-69219)Cgt>Tgt	p.R23073C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16768C|TTN_uc021vta.1_Missense_Mutation_p.R16701C|TTN_uc021vtb.1_Missense_Mutation_p.R16576C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24000							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)			GTGGCTTCACGTTTCTCAACA	0.378000														288			84		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108133184	108133184	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108133184G>T	uc003dxa.1	-	30	4157	c.4100C>A	c.(4099-4101)gCt>gAt	p.A1367D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1367						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GTGCAGCTCAGCCTTGACCTC	0.507000														66			9		1.12685e-05	1.18529e-05	1	1	0
PITRM1	10531	broad.mit.edu	37	10	3206051	3206051	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:3206051C>A	uc009xhv.2	-	6	726	c.657G>T	c.(655-657)caG>caT	p.Q219H	PITRM1_uc001igr.2_Missense_Mutation_p.Q219H|PITRM1_uc001igt.2_Missense_Mutation_p.Q219H|PITRM1_uc010qah.2_Missense_Mutation_p.Q187H|PITRM1_uc001igu.1_Missense_Mutation_p.Q211H|PITRM1_uc010qai.2_Missense_Mutation_p.Q190H|BC039685_uc001igx.1_5'Flank	NM_001242307	NP_001229236	E7ES23	E7ES23_HUMAN	Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	187					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TCTGAAGGTGCTGGGAGAATA	0.423000														76			24		6.44725e-10	7.21145e-10	1	1	0
NBPF7	343505	broad.mit.edu	37	1	120385128	120385128	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120385128G>T	uc010oxk.2	-	1	887	c.266C>A	c.(265-267)tCt>tAt	p.S89Y		NM_001047980	NP_001041445	P0C2Y1	NBPF7_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA.	89						cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2)	24	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347)		Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544)		CCTCAGCATAGATTTTATGAG	0.557000														340			81		1.4051e-37	1.78341e-37	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17697531	17697531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17697531C>T	uc002rcl.1	-	0	2176	c.2152G>A	c.(2152-2154)Gtg>Atg	p.V718M	RAD51AP2_uc010exn.1_Missense_Mutation_p.V709M	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	718										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCACATTCACAACTTGTTGA	0.318000														69			19		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101605829	101605829	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101605829C>A	uc002bwr.3	+	31	5506	c.5187C>A	c.(5185-5187)ccC>ccA	p.P1729P	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1729					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGCTGGAGCCCTACATGGCCC	0.622000														192			11		0.000978159	0.0010017	1	1	0
AFF2	2334	broad.mit.edu	37	X	148035155	148035155	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148035155C>T	uc004fcp.3	+	9	1922	c.1443C>T	c.(1441-1443)agC>agT	p.S481S	AFF2_uc004fcq.3_Silent_p.S471S|AFF2_uc004fcr.3_Silent_p.S442S|AFF2_uc011mxb.2_Silent_p.S446S|AFF2_uc004fcs.3_Silent_p.S448S|AFF2_uc011mxc.2_Silent_p.S122S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	481					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGCCAGCGGGGGTTCTG	0.522000														301			34		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828262	18828262	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828262G>A	uc001ipr.2	+	13	1652	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	CACNB2_uc001ipt.2_Missense_Mutation_p.R493H|CACNB2_uc009xjz.1_Missense_Mutation_p.R281H|CACNB2_uc001ips.2_Missense_Mutation_p.R507H|CACNB2_uc001ipu.3_Missense_Mutation_p.R503H|CACNB2_uc001ipv.3_Missense_Mutation_p.R479H|CACNB2_uc009xka.2_Missense_Mutation_p.R465H|CACNB2_uc001ipw.2_Missense_Mutation_p.R438H|CACNB2_uc001ipx.2_Missense_Mutation_p.R476H|CACNB2_uc001ipz.2_Missense_Mutation_p.R453H|CACNB2_uc001ipy.2_Missense_Mutation_p.R477H|CACNB2_uc010qco.1_Missense_Mutation_p.R445H|CACNB2_uc001iqa.2_Missense_Mutation_p.R483H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	531					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.R507H(1)|p.R476H(1)|p.R477H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCCAGCACCGCTCTTCCTCC	0.557000														91			24		0	0	1	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017454	101017454	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101017454A>C	uc001thu.3	+	9	1097	c.871A>C	c.(871-873)Aaa>Caa	p.K291Q	GAS2L3_uc009zty.3_Missense_Mutation_p.K291Q|GAS2L3_uc001thv.3_Missense_Mutation_p.K187Q	NM_174942	NP_777602	Q86XJ1	GA2L3_HUMAN	Homo sapiens growth arrest-specific 2 like 3 (GAS2L3), mRNA.	291					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						ATTAGAACAAAAAATTTTAGC	0.403000														124			36		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196387788	196387788	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196387788C>A	uc003fwv.3	+	2	1378	c.1274C>A	c.(1273-1275)gCt>gAt	p.A425D		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	425						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		TTCGCCAATGCTAGGAACATC	0.627000														322			96		1.07466e-44	1.36895e-44	1	1	0
MTUS1	57509	broad.mit.edu	37	8	17612546	17612546	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17612546A>G	uc003wxv.3	-	1	1245	c.771T>C	c.(769-771)gtT>gtC	p.V257V	MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.V257V|MTUS1_uc010lsz.3_Silent_p.V257V	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	257						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CAATATCTGAAACAAAAACCT	0.413000														181			32		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39264866	39264866	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264866G>A	uc001uwv.3	+	0	3694	c.3385G>A	c.(3385-3387)Gca>Aca	p.A1129T		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1129					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAAATCAAGAGCAGGGATTGC	0.463000														98			6		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995503	11995503	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995503A>G	uc003wvc.1	-	0	767	c.767T>C	c.(766-768)cTt>cCt	p.L256P	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	256					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						CTGGAGACAAAGACCGCAATG	0.512000														149			11		0	0	1	0	0
SLC4A1AP	22950	broad.mit.edu	37	2	27886811	27886811	+	Silent	SNP	C	A	A	rs139689483	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27886811C>A	uc002rlk.4	+	0	474	c.192C>A	c.(190-192)acC>acA	p.T64T	SUPT7L_uc002rlh.1_5'Flank|SUPT7L_uc002rli.1_5'Flank|SUPT7L_uc010ymf.1_5'Flank|SUPT7L_uc010ezh.1_5'Flank|SUPT7L_uc002rlj.1_5'Flank	NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	64						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGTCAGAGACCCTGGCGTCGC	0.592000														217			40		2.05212e-20	2.50602e-20	1	1	0
NSFL1C	55968	broad.mit.edu	37	20	1438856	1438856	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1438856C>T	uc002wfc.3	-	2	1135	c.267G>A	c.(265-267)gaG>gaA	p.E89E	NSFL1C_uc021vzq.1_Missense_Mutation_p.R7K|NSFL1C_uc002wfe.3_Silent_p.E89E	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	89	Poly-Glu.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCTGGCCTTCCTCTTCCTCCT	0.483000														123			27		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542497	61542497	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542497G>A	uc002ydr.2	-	2	780	c.468C>T	c.(466-468)agC>agT	p.S156S	DIDO1_uc002yds.2_Silent_p.S156S|DIDO1_uc002ydt.2_Silent_p.S156S|DIDO1_uc002ydu.2_Silent_p.S156S|DIDO1_uc002ydv.2_Silent_p.S156S|DIDO1_uc002ydw.2_Silent_p.S156S|DIDO1_uc002ydx.2_Silent_p.S156S|DIDO1_uc011aao.1_Silent_p.S156S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	156					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCAGGCCATCGCTGTCACTAT	0.587000														176			44		0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38421339	38421339	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38421339C>T	uc002hug.1	+	4	1151	c.911C>T	c.(910-912)cCa>cTa	p.P304L	WIPF2_uc002huh.1_Missense_Mutation_p.P154L|WIPF2_uc010cww.1_Missense_Mutation_p.P154L|WIPF2_uc002hui.1_Missense_Mutation_p.P304L|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P304L	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	304						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						TCGGCCTCCCCATCTTTACTG	0.582000										HNSCC(43;0.11)				241			42		0	0	1	0	0
SYF2	25949	broad.mit.edu	37	1	25549848	25549848	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25549848C>A	uc001bjt.1	-	6	696	c.641G>T	c.(640-642)aGg>aTg	p.R214M	SYF2_uc001bju.1_Missense_Mutation_p.R172M	NM_015484	NP_056299	O95926	SYF2_HUMAN	Homo sapiens SYF2 homolog, RNA splicing factor (S. cerevisiae) (SYF2), transcript variant 1, mRNA.	214						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTTGGCATTCCTTTCATTAAT	0.353000														89			33		1.26612e-14	1.49017e-14	1	1	0
MEX3A	92312	broad.mit.edu	37	1	156046584	156046584	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156046584C>T	uc001fnd.4	-	1	1344	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	448						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGCCCTGGAGCGGCTCTCCCG	0.746000														16			6		0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40309819	40309819	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40309819C>A	uc021olz.1	-	9	1202	c.1188G>T	c.(1186-1188)ctG>ctT	p.L396L	TRIT1_uc001ced.4_Silent_p.L92L|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Silent_p.L150L|TRIT1_uc001ceh.4_Silent_p.L150L|TRIT1_uc009vvv.3_Silent_p.L229L|TRIT1_uc001cei.4_Silent_p.L150L|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Silent_p.L92L|TRIT1_uc001cek.3_Silent_p.L92L|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Silent_p.L314L|TRIT1_uc001cen.3_Silent_p.L150L|TRIT1_uc001ceo.3_Silent_p.L150L|TRIT1_uc001cep.3_Silent_p.L150L	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	396					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGAGGTCACACAGGTGATAAC	0.468000														102			9		0.00448238	0.00455828	1	1	0
N4BP2L2	10443	broad.mit.edu	37	13	33017510	33017510	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33017510C>T	uc010abe.1	-	6	1186	c.1164G>A	c.(1162-1164)tgG>tgA	p.W388*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.W271*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.W301*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.W219*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.W373*|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTCCTGCAGGCCAGCTACCAA	0.423000														93			8		0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44581358	44581358	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44581358A>C	uc001ztp.3	+	0	450	c.131A>C	c.(130-132)gAg>gCg	p.E44A	CASC4_uc001ztq.3_Missense_Mutation_p.E44A|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Missense_Mutation_p.E44A	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	44						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		CTGCTTCAGGAGGAGGTGGCC	0.662000														190			38		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42799146	42799146	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42799146G>A	uc002otf.1	+	19	4670	c.4630G>A	c.(4630-4632)Gct>Act	p.A1544T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1544	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				cactggcaccgctgctgcccc	0.726000			"""Mis, F, S"""		oligodendroglioma									53			12		0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263526	75263526	+	Silent	SNP	G	A	A	rs144964852		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75263526G>A	uc002fdv.3	-	6	2642	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	BCAR1_uc002fdt.3_Silent_p.A285A|BCAR1_uc002fdu.3_Silent_p.A622A|BCAR1_uc010vna.2_Silent_p.A830A|BCAR1_uc010cgu.3_Silent_p.A850A|BCAR1_uc010vnb.2_Silent_p.A878A|BCAR1_uc002fdw.3_Silent_p.A832A|BCAR1_uc010vnc.2_Silent_p.A684A|BCAR1_uc010vnd.2_Silent_p.A850A|BCAR1_uc002fdx.3_Silent_p.A850A	NM_014567	NP_055382	P56945	BCAR1_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 1 (BCAR1), transcript variant 6, mRNA.	832					B cell receptor signaling pathway|G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|actin filament organization|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth	cytosol|focal adhesion|membrane fraction|ruffle	SH3 domain binding|protein kinase binding|protein phosphatase binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAAGGCAGCGGCCTTGGTGG	0.677000														77			9		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9048279	9048279	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048279G>T	uc002mkp.3	-	4	33556	c.33352C>A	c.(33352-33354)Ctt>Att	p.L11118I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11120	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L6751F(1)|p.L11118F(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGAAGAAAGAGTTAGAATT	0.498000														124			29		6.07407e-21	7.43637e-21	1	1	0
CDH11	1009	broad.mit.edu	37	16	65038694	65038694	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65038694G>A	uc002eoi.3	-	2	513	c.79C>T	c.(79-81)Cgg>Tgg	p.R27W	CDH11_uc010cdn.3_Non-coding_Transcript|CDH11_uc002eoj.3_Missense_Mutation_p.R27W|CDH11_uc010vin.2_Intron|CDH11_uc010vio.1_Missense_Mutation_p.R27W	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	27					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TGCCCCCGCCGCTCTGGGGCA	0.612000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				18			5		0	0	1	0	0
RPH3AL	9501	broad.mit.edu	37	17	63652	63652	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63652G>A	uc002fre.2	-	9	1282	c.939C>T	c.(937-939)tgC>tgT	p.C313C	RPH3AL_uc010vpy.2_3'UTR|RPH3AL_uc021tmx.1_Silent_p.C313C|RPH3AL_uc002frf.2_Silent_p.C284C|RPH3AL_uc010cjl.2_Silent_p.C284C	NM_006987	NP_008918	Q9UNE2	RPH3L_HUMAN	Homo sapiens rabphilin 3A-like (without C2 domains) (RPH3AL), transcript variant 1, mRNA.	313					exocytosis|intracellular protein transport	transport vesicle membrane	Rab GTPase binding|cytoskeletal protein binding|zinc ion binding			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		CTCAGCCCAGGCAGCTGGAGG	0.632000														64			9		0	0	1	0	0
CCL21	6366	broad.mit.edu	37	9	34709608	34709608	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34709608A>T	uc003zvo.3	-	2	344	c.260T>A	c.(259-261)aTg>aAg	p.M87K		NM_002989	NP_002980	O00585	CCL21_HUMAN	Homo sapiens chemokine (C-C motif) ligand 21 (CCL21), mRNA.	87					T cell costimulation|activation of Rho GTPase activity|cell maturation|cell-cell signaling|dendritic cell chemotaxis|dendritic cell dendrite assembly|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|mesangial cell-matrix adhesion|negative regulation of leukocyte apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of cell-matrix adhesion|positive regulation of dendritic cell antigen processing and presentation|positive regulation of filopodium assembly|positive regulation of glycoprotein biosynthetic process|positive regulation of myeloid dendritic cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of pseudopodium assembly|positive regulation of receptor-mediated endocytosis|release of sequestered calcium ion into cytosol|response to prostaglandin E stimulus|ruffle organization	extracellular space	CCR7 chemokine receptor binding|chemokine activity			large_intestine(4)	4	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CAGATGCTGCATCAGCTGCTG	0.592000														125			44		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72830247	72830247	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72830247C>A	uc002fck.3	-	8	7007	c.6334G>T	c.(6334-6336)Gct>Tct	p.A2112S	ZFHX3_uc002fcl.3_Missense_Mutation_p.A1198S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2112					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGTAGCTGAGCCGGCAAGGTC	0.642000														162			40		2.40579e-17	2.88621e-17	1	1	0
GPR98	84059	broad.mit.edu	37	5	90144584	90144584	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90144584A>G	uc003kju.3	+	78	17246	c.17150A>G	c.(17149-17151)gAg>gGg	p.E5717G	GPR98_uc003kjt.3_Missense_Mutation_p.E3423G|GPR98_uc003kjw.3_Missense_Mutation_p.E1378G	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5717					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGTGACTGAGAATTTTGCC	0.383000														57			5		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090752	238090752	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090752G>A	uc010pyc.2	+	11		c.2258G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TCGGCCCAGCGGGAGATCATG	0.612000														37			13		0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116353676	116353676	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116353676C>T	uc004bhq.3	+	22	3289	c.3080_splice	c.e22+1	p.L1027_splice	RGS3_uc004bhs.3_Splice_Site_p.L917_splice|RGS3_uc004bht.3_Splice_Site_p.L746_splice|RGS3_uc010muy.3_Splice_Site_p.L420_splice|RGS3_uc004bhv.3_Splice_Site_p.L348_splice|RGS3_uc010muz.1_Silent_p.L366L|RGS3_uc004bhw.3_Intron|RGS3_uc011lxh.2_Splice_Site_p.L348_splice|RGS3_uc004bhx.3_Splice_Site_p.L348_splice|RGS3_uc004bhy.1_Silent_p.L337L|RGS3_uc004bhz.3_Splice_Site_p.L369_splice|RGS3_uc004bia.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1027					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGCAAAAACCTGTACGTTGG	0.592000														77			15		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543008	133543008	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133543008C>T	uc002ttp.3	-	13	1750	c.1376G>A	c.(1375-1377)aGc>aAc	p.S459N	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	459							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTTGCAGGGGCTCCCCAGGTC	0.468000														112			7		0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130067743	130067743	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130067743G>A	uc001qfw.3	+	11	1555	c.1362G>A	c.(1360-1362)ccG>ccA	p.P454P		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	454	LDL-receptor class A 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CAGCATGCCCGGGGCAGTTCA	0.706000														20			3		0	0	1	0	0
E2F7	144455	broad.mit.edu	37	12	77423632	77423632	+	Silent	SNP	C	T	T	rs140294649		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:77423632C>T	uc001sym.4	-	9	2099	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	E2F7_uc009zse.3_Silent_p.P108P	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	621					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAAGCGACAGCGGGCCGTCTT	0.522000														127			27		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57590814	57590814	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57590814C>T	uc001snd.3	+	55	9408	c.8942C>T	c.(8941-8943)gCt>gTt	p.A2981V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2981	EGF-like 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGACGTGTGCTGATGTGGAC	0.652000														140			12		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22069241	22069241	+	Nonstop_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22069241A>G	uc003xbg.3	+	19	3227	c.2961A>G	c.(2959-2961)tgA>tgG	p.*987W	BMP1_uc011kzc.2_Nonstop_Mutation_p.*736W|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	0					cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGGAAGTGACCACTGCCTG	0.602000														156			31		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44508543	44508543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44508543G>A	uc002ruc.4	+	2	706	c.628G>A	c.(628-630)Gat>Aat	p.D210N	SLC3A1_uc002rty.3_Missense_Mutation_p.D210N|SLC3A1_uc002rtz.2_Missense_Mutation_p.D210N|SLC3A1_uc002rua.3_Missense_Mutation_p.D210N|SLC3A1_uc002rub.2_Missense_Mutation_p.D210N	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	210					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ATTAATCATCGATTTCATACC	0.348000														65			21		0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17674450	17674450	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17674450C>T	uc001baj.2	+	9	1090	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	PADI4_uc009vpc.2_Silent_p.I354I	NM_012387	NP_036519	Q9UM07	PADI4_HUMAN	Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA.	354					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	AAATGGAGATCGGCTACATCC	0.582000														82			5		0	0	1	0	0
HS2ST1	9653	broad.mit.edu	37	1	87549948	87549948	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87549948C>A	uc010osk.2	+	2	820	c.435C>A	c.(433-435)taC>taA	p.Y145*	HS2ST1_uc001dmc.4_Nonsense_Mutation_p.Y145*|HS2ST1_uc001dme.2_Nonsense_Mutation_p.Y106*	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	145						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		ACGTTTCTTACTTGGATTTTG	0.313000														49			19		3.99206e-14	4.68177e-14	1	1	0
OR4X2	119764	broad.mit.edu	37	11	48266694	48266694	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48266694G>T	uc001ngs.1	+	0	39	c.39G>T	c.(37-39)caG>caT	p.Q13H		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCCCAACCAGGAGGTGCAGA	0.448000														166			35		1.04352e-10	1.17799e-10	1	1	0
SEPP1	6414	broad.mit.edu	37	5	42808439	42808439	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42808439C>T	uc011cps.2	-	2	205	c.107G>A	c.(106-108)gGg>gAg	p.G36E	SEPP1_uc011cpt.2_Missense_Mutation_p.G6E|SEPP1_uc011cpu.2_Missense_Mutation_p.G6E|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	6					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CAGGGCAAGCCCCAGGCTTCT	0.478000														47			11		0	0	1	0	0
IL6R	3570	broad.mit.edu	37	1	154437670	154437670	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154437670G>A	uc001fez.2	+	9	1658	c.1221G>A	c.(1219-1221)ccG>ccA	p.P407P	IL6R_uc001ffa.2_3'UTR	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	407					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCATCCGCCGTACTCTTTGG	0.567000														185			42		0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19965028	19965028	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19965028C>A	uc002zqz.3	-	8	2050	c.1780G>T	c.(1780-1782)Gag>Tag	p.E594*	ARVCF_uc002zqy.3_Nonsense_Mutation_p.E116*	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	594					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCTCGGCCTCCTGGTACCTG	0.667000														247			45		8.01111e-26	9.99355e-26	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84651735	84651735	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651735G>A	uc003uic.3	-	10	1426	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	SEMA3D_uc010led.3_Silent_p.G462G|SEMA3D_uc003uib.3_Silent_p.G101G	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	462	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CATCGTACTGGCCATCTTCTG	0.383000														259			61		0	0	1	0	0
MAN2A1	4124	broad.mit.edu	37	5	109191007	109191007	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:109191007T>C	uc003kou.1	+	19	4106	c.3143T>C	c.(3142-3144)cTg>cCg	p.L1048P		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	1048					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GACATTCATCTGGTTAATTTG	0.358000														34			11		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178152398	178152398	+	Missense_Mutation	SNP	C	T	T	rs145090436	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178152398C>T	uc003mjj.3	-	3	433	c.235G>A	c.(235-237)Ggt>Agt	p.G79S		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	79	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ACGCCAGAACCGTCTTTCTCC	0.527000														250			51		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127264	152127264	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152127264G>A	uc001ezs.1	-	2	2376	c.2311C>T	c.(2311-2313)Cga>Tga	p.R771*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	771	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGCCTGTCTCGTCTCTGACGG	0.473000														757			142		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40961257	40961257	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961257C>T	uc010ojk.2	+	5	1404	c.1110C>T	c.(1108-1110)agC>agT	p.S370S	ZNF642_uc001cfo.3_Silent_p.S369S|ZNF642_uc009vwb.3_Silent_p.S369S	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AGAACATTAGCTTGGTTCAAC	0.388000														108			10		0	0	1	0	0
CENPL	91687	broad.mit.edu	37	1	173772420	173772420	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173772420G>A	uc001gjg.4	-	5	1385	c.782C>T	c.(781-783)gCa>gTa	p.A261V	CENPL_uc001gje.4_Missense_Mutation_p.A215V|CENPL_uc001gjf.4_Missense_Mutation_p.A215V	NM_001127181	NP_001120653	Q8N0S6	CENPL_HUMAN	Homo sapiens centromere protein L (CENPL), transcript variant 1, mRNA.	215					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						AAGATTAAATGCATTGATTGC	0.413000														182			37		0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87622493	87622493	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87622493C>T	uc003hpz.3	+	6	1214	c.734C>T	c.(733-735)tCc>tTc	p.S245F	PTPN13_uc003hpy.3_Missense_Mutation_p.S245F|PTPN13_uc003hqa.3_Missense_Mutation_p.S245F|PTPN13_uc003hqb.3_Missense_Mutation_p.S245F	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	245						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GGATTTCTGTCCATCAAAGAT	0.368000														29			8		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12977513	12977513	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12977513C>T	uc002mvm.3	+	17	2204	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	692	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACGAGGATGACACGACGGAGG	0.617000														74			11		0	0	1	0	0
EFNA1	1942	broad.mit.edu	37	1	155104109	155104109	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155104109C>A	uc001fhh.3	+	2	493	c.388_splice	c.e2+1	p.S130_splice	EFNA1_uc001fhi.3_Splice_Site_p.S130_splice|EFNA1_uc009wpd.1_5'Flank	NM_004428	NP_004419	P20827	EFNA1_HUMAN	Homo sapiens ephrin-A1 (EFNA1), transcript variant 1, mRNA.	130					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACTACTACATCTGTGAGTGCC	0.522000														63			24		1.64293e-13	1.91604e-13	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3493618	3493618	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493618C>T	uc010vro.2	-	3	706	c.673G>A	c.(673-675)Gga>Aga	p.G225R	TRPV1_uc010vrp.2_Missense_Mutation_p.G225R|TRPV1_uc010vrq.2_Missense_Mutation_p.G223R|TRPV1_uc010vrr.2_Missense_Mutation_p.G225R|TRPV1_uc010vrs.2_Missense_Mutation_p.G225R|TRPV1_uc010vrt.2_Missense_Mutation_p.G225R|TRPV1_uc010vru.2_Missense_Mutation_p.G225R	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	225					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACGTCTGCTCCGTTCTCCACC	0.597000														186			14		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135102389	135102389	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135102389C>T	uc004cbh.2	+	3	1787	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	337	Laminin EGF-like 1.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGCCGCTGCCCCATGGCTCTC	0.647000														67			9		0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1034862	1034862	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1034862G>A	uc002ckn.3	+	2	932	c.817G>A	c.(817-819)Gtc>Atc	p.V273I		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	273					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CAGCAGCGAGGTCATGGGCAC	0.697000														100			28		0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108383192	108383192	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108383192T>C	uc001pkk.3	-	5	3153	c.3042A>G	c.(3040-3042)gaA>gaG	p.E1014E	EXPH5_uc010rvz.2_Silent_p.E858E|EXPH5_uc010rvy.2_Silent_p.E826E	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1014					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGTGTCAAGTTCAGAAACTT	0.383000														87			21		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103908623	103908623	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103908623G>A	uc001kum.3	+	11	4706	c.4667G>A	c.(4666-4668)cGa>cAa	p.R1556Q	PPRC1_uc001kun.3_Missense_Mutation_p.R1434Q|PPRC1_uc010qqj.2_Missense_Mutation_p.R1292Q|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1556	RRM.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCATGACTCGATCAGAGCTG	0.488000														90			22		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129903573	129903573	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129903573G>A	uc001lke.3	-	12	6726	c.6531C>T	c.(6529-6531)agC>agT	p.S2177S	MKI67_uc001lkf.3_Silent_p.S1817S|MKI67_uc009yav.1_Silent_p.S1752S|MKI67_uc009yaw.1_Silent_p.S1327S	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2177	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGCCTCTTGCTACCAGTTA	0.493000														243			59		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102549964	102549964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102549964C>T	uc001yku.4	-	7	1595	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	HSP90AA1_uc001ykv.4_Missense_Mutation_p.A591T|HSP90AA1_uc001ykw.1_Missense_Mutation_p.A290T|HSP90AA1_uc001ykx.1_Missense_Mutation_p.A458T	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	469					G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	TCACCAGAGGCAGATGTGTAG	0.388000														117			15		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177133624	177133624	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177133624C>T	uc001glc.3	-	0	401	c.189G>A	c.(187-189)gaG>gaA	p.E63E	ASTN1_uc001glb.1_Silent_p.E63E|ASTN1_uc001gld.1_Silent_p.E63E|ASTN1_uc009wwx.1_Silent_p.E63E	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	63					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGAGCTTGGGCTCCGAGGCCG	0.617000														97			27		0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15568034	15568034	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15568034C>A	uc004cww.3	+	17	2055	c.1867C>A	c.(1867-1869)Ctg>Atg	p.L623M	BMX_uc004cwx.4_Missense_Mutation_p.L623M|BMX_uc004cwy.4_Missense_Mutation_p.L623M	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	623	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					CCAGGTGGTTCTGAAGGTCTC	0.572000														247			57		3.4597e-24	4.29637e-24	1	1	0
FASTKD3	79072	broad.mit.edu	37	5	7861322	7861322	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7861322T>C	uc003jeb.3	-	5	1996	c.1824A>G	c.(1822-1824)ttA>ttG	p.L608L	FASTKD3_uc011cmp.2_Silent_p.L310L|FASTKD3_uc003jec.3_Non-coding_Transcript	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	608	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTTCCCCAGTAAGTGTTTGC	0.328000														77			18		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151932919	151932919	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151932919C>A	uc003wla.3	-	15	2971	c.2752G>T	c.(2752-2754)Gct>Tct	p.A918S	MLL3_uc003wkz.3_5'UTR	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	918					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AATACAACAGCTCCGATTCCA	0.473000			N		medulloblastoma									335			16		5.35267e-07	5.74308e-07	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127556	32127556	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32127556G>T	uc011adi.2	-	0	141	c.141C>A	c.(139-141)ggC>ggA	p.G47G		NM_181619	NP_853650	Q3LI58	KR211_HUMAN	Homo sapiens keratin associated protein 21-1 (KRTAP21-1), mRNA.	47						intermediate filament		p.Y46C(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cataaccacagccataatggg	0.542000														289			46		2.68985e-26	3.3603e-26	1	1	0
TNXB	7148	broad.mit.edu	37	6	32036330	32036330	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32036330G>A	uc003nzl.2	-	16	6259	c.6057C>T	c.(6055-6057)gtC>gtT	p.V2019V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2101	Fibronectin type-III 12.				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						TCCTGTACTGGACCAGGAAGT	0.607000														113			18		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197316584	197316584	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197316584C>T	uc001gtz.3	+	3	1172	c.963C>T	c.(961-963)gaC>gaT	p.D321D	CRB1_uc010poz.2_Silent_p.D252D|CRB1_uc001gty.2_Silent_p.D321D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.D321D|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	321	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGTGTTGACAATTACACTT	0.408000														113			26		0	0	1	0	0
XPO7	23039	broad.mit.edu	37	8	21844746	21844746	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21844746C>T	uc003xaa.4	+	13	1774	c.1672C>T	c.(1672-1674)Cgt>Tgt	p.R558C		NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	Homo sapiens exportin 7 (XPO7), mRNA.	558					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		TGAACAGTTTCGTAAGATCTA	0.483000														153			24		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11645572	11645572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11645572C>T	uc002gne.3	+	29	6121	c.6053C>T	c.(6052-6054)tCa>tTa	p.S2018L	DNAH9_uc010coo.3_Missense_Mutation_p.S1312L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2018	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAAGCCCAGTCATTAGCCAGA	0.458000														133			34		0	0	1	0	0
ARMCX5-GPRASP2	100528062	broad.mit.edu	37	X	101969867	101969867	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101969867G>A	uc022cbh.1	+	0	70	c.70G>A	c.(70-72)Gct>Act	p.A24T	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.A24T|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.A24T	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	24						cytoplasm	protein binding										AGAGGTTATCGCTGGGCCTGA	0.522000														167			57		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421412	89421412	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421412G>A	uc002bnd.3	-	5	1139	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	HAPLN3_uc002bnc.3_Missense_Mutation_p.A291V|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	291	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GGCGATCGTGGCATCATCTTC	0.647000														333			76		0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940063	70940063	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70940063G>A	uc001jpe.1	+	0	71	c.16G>A	c.(16-18)Gcc>Acc	p.A6T	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	6					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTTCTCCCGTGCCCTATTGTG	0.697000														104			37		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47931507	47931507	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931507C>T	uc002zjo.2	+	7	1265	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	DIP2A_uc011afy.1_Missense_Mutation_p.A297V|DIP2A_uc011afz.1_Missense_Mutation_p.A357V|DIP2A_uc002zjl.3_Missense_Mutation_p.A361V|DIP2A_uc002zjm.3_Missense_Mutation_p.A361V|DIP2A_uc010gql.3_Missense_Mutation_p.A318V|DIP2A_uc002zjn.3_Missense_Mutation_p.A361V|DIP2A_uc002zjp.1_Missense_Mutation_p.A106V	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	361					multicellular organismal development	nucleus	catalytic activity|transcription factor binding	p.G360V(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		ACTGGGAAAGCCGTCTACACT	0.537000														53			6		0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20331047A>G	uc002dgv.3	-	6	994	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_uc002dgw.3_Missense_Mutation_p.V301A|GP2_uc002dgx.3_Missense_Mutation_p.V157A|GP2_uc002dgy.3_Missense_Mutation_p.V154A	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	304	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423000														279			64		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3154969	3154969	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3154969G>T	uc002klp.3	-	10	1953	c.1619C>A	c.(1618-1620)cCt>cAt	p.P540H	MYOM1_uc002klq.3_Missense_Mutation_p.P540H	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	540	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCGAGAATAGGACTCCCTCC	0.438000														31			7		2.7689e-08	3.02839e-08	1	1	0
IGFBP4	3487	broad.mit.edu	37	17	38610230	38610230	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38610230C>T	uc002hus.3	+	2	870	c.558C>T	c.(556-558)gcC>gcT	p.A186A		NM_001552	NP_001543	P22692	IBP4_HUMAN	Homo sapiens insulin-like growth factor binding protein 4 (IGFBP4), mRNA.	186	Thyroglobulin type-1.				DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCGGCTGGCCGCTTCACAGA	0.642000														241			48		0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62670660	62670660	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62670660C>T	uc001jli.3	-	4	719	c.281G>A	c.(280-282)cGc>cAc	p.R94H	RHOBTB1_uc009xpe.2_Missense_Mutation_p.R94H|RHOBTB1_uc001jlh.3_Missense_Mutation_p.R94H|RHOBTB1_uc001jlj.3_Missense_Mutation_p.R94H|RHOBTB1_uc001jlk.3_Missense_Mutation_p.R94H|RHOBTB1_uc001jlm.3_Missense_Mutation_p.R94H	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	94	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					ATATGCAAAGCGTCTGTCTTT	0.443000														55			10		0	0	1	0	0
TSPAN18	90139	broad.mit.edu	37	11	44952513	44952513	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44952513C>A	uc001myg.3	+	6	810	c.800C>A	c.(799-801)gCc>gAc	p.A267D	TSPAN18_uc001mye.4_3'UTR|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	0						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GGAGCCACAGCCTAGAGCCCC	0.582000														15			3		0.004672	0.00474578	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40693003	40693003	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40693003A>G	uc001rmg.4	+	24	3561	c.3440A>G	c.(3439-3441)aAc>aGc	p.N1147S	LRRK2_uc001rmh.1_Missense_Mutation_p.N769S|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1147					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.N1147Y(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATCAGAGAACTTTCTTGAG	0.418000														159			39		0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287519	16287519	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:16287519G>T	uc010gqp.2	-	0	419	c.367C>A	c.(367-369)Cac>Aac	p.H123N	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	123								p.H123D(2)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GAGTCGTCGTGGTCTCCAGAA	0.602000														439			95		2.84668e-63	3.63732e-63	1	1	0
OSGIN1	29948	broad.mit.edu	37	16	83999313	83999313	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83999313G>A	uc002fha.3	+	6	1384	c.1384G>A	c.(1384-1386)Gac>Aac	p.D462N	NECAB2_uc002fhd.3_5'Flank|OSGIN1_uc002fhb.3_Missense_Mutation_p.D379N|OSGIN1_uc002fhc.3_Missense_Mutation_p.D379N	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	462					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CGTGTTCCAGGACCTCGAGGG	0.647000														169			42		0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290546	58290546	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58290546G>A	uc002qqd.3	+	2	782	c.591G>A	c.(589-591)agG>agA	p.R197R	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Silent_p.R154R|ZNF586_uc002qqe.3_Missense_Mutation_p.G155E|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTAACCACAGGAAAGTTCACT	0.433000														144			36		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31348032	31348032	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31348032C>T	uc001wqr.2	+	4	335	c.255C>T	c.(253-255)aaC>aaT	p.N85N	COCH_uc001wqp.2_Silent_p.N85N|COCH_uc001wqq.4_Silent_p.N85N|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	85	LCCL.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TAATCAGCAACTCAGGGGGAC	0.458000														98			12		0	0	1	0	0
AHSG	197	broad.mit.edu	37	3	186334294	186334294	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186334294C>T	uc003fqk.4	+	2	468	c.387C>T	c.(385-387)taC>taT	p.Y129Y	AHSG_uc003fqj.3_Silent_p.Y129Y	NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	129	Cystatin fetuin-A-type 1.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		CCGTGGTATACGCAAAATGTG	0.433000														27			13		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52218680	52218680	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52218680T>G	uc003jou.3	+	17	2780	c.2366T>G	c.(2365-2367)gTt>gGt	p.V789G	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.V320G	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	789					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATGGGCCTGTTCTTGATGAT	0.338000														115			22		0	0	1	0	0
AIRE	326	broad.mit.edu	37	21	45713671	45713671	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45713671G>T	uc002zei.2	+	11	1406	c.1279_splice	c.e11-1	p.N427_splice	AIRE_uc010gpq.2_Splice_Site|AIRE_uc002zej.2_Splice_Site_p.N230_splice|AIRE_uc010gpr.2_Splice_Site_p.N230_splice	NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	427					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)		GCCTCCCACAGAACCTGGCTC	0.692000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy					118			16		6.49762e-13	7.53005e-13	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32884840	32884840	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32884840G>A	uc010skh.1	+	12	1609	c.1607G>A	c.(1606-1608)tGt>tAt	p.C536Y	DNM1L_uc001rld.2_Missense_Mutation_p.C470Y|DNM1L_uc001rle.2_Missense_Mutation_p.C470Y|DNM1L_uc001rlf.2_Missense_Mutation_p.C470Y|DNM1L_uc001rlg.2_Missense_Mutation_p.C536Y|DNM1L_uc001rlh.2_Missense_Mutation_p.C523Y|DNM1L_uc010ski.1_Missense_Mutation_p.C267Y	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	470	B domain.|Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTGGTGACTTGTCTTCTTCGT	0.313000														89			17		0	0	1	0	0
TMEM128	85013	broad.mit.edu	37	4	4242094	4242094	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4242094C>T	uc003ghr.1	-	2	382	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	TMEM128_uc003ghq.1_Missense_Mutation_p.A94T|TMEM128_uc003ghs.3_Missense_Mutation_p.A118T|TMEM128_uc011bvv.1_Missense_Mutation_p.A118T|TMEM128_uc011bvw.1_Missense_Mutation_p.A118T	NM_032927	NP_116316	Q5BJH2	TM128_HUMAN	Homo sapiens transmembrane protein 128 (TMEM128), mRNA.	118						integral to membrane				endometrium(1)|kidney(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		GGTATCAAGGCTGGATACTTG	0.368000														39			10		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78390815	78390815	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78390815G>T	uc001xui.3	+	7	973	c.874G>T	c.(874-876)Ggc>Tgc	p.G292C	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.G224C|ADCK1_uc001xuk.1_Missense_Mutation_p.G166C|ADCK1_uc001xul.3_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	299	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACGCCACCTGGGCAAGATGTA	0.572000														124			34		2.75727e-19	3.34553e-19	1	1	0
GON4L	54856	broad.mit.edu	37	1	155783530	155783530	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155783530C>T	uc001flz.2	-	9	1444	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	GON4L_uc001fly.1_Silent_p.P449P|GON4L_uc009wrh.1_Silent_p.P449P|GON4L_uc001fma.1_Silent_p.P449P|GON4L_uc001fmc.3_Silent_p.P449P|GON4L_uc001fmd.4_Silent_p.P449P|GON4L_uc009wri.3_Silent_p.P35P|GON4L_uc001fme.3_Silent_p.P277P|GON4L_uc001fmf.3_Silent_p.P143P	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	449	Poly-Pro.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAGGGGGCGGGGGCCCCA	0.517000														96			41		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113702669	113702669	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113702669T>C	uc001poh.3	-	7	839	c.806A>G	c.(805-807)gAc>gGc	p.D269G	USP28_uc001pog.3_5'Flank|USP28_uc010rwy.2_Missense_Mutation_p.D144G|USP28_uc001poi.3_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.D269G|USP28_uc010rwz.1_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	269					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTGGAATGCGTCCTCTAGCCA	0.408000														86			7		0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944060	74944060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74944060C>T	uc002jti.3	+	14	2202	c.2099C>T	c.(2098-2100)gCc>gTc	p.A700V	MGAT5B_uc002jth.3_Missense_Mutation_p.A689V|MGAT5B_uc002jtj.3_Missense_Mutation_p.A96V	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	691						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCCTGCGGGCCTGGCTGGCC	0.701000														68			13		0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42513424	42513424	+	Missense_Mutation	SNP	G	A	A	rs146370925	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42513424G>A	uc002rsi.3	+	9	1289	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	EML4_uc010fap.3_Missense_Mutation_p.V285I|EML4_uc002rsj.3_Missense_Mutation_p.V32I	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	343					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ACAACCCCACGTCAGAGTGTG	0.438000			T	ALK	NSCLC									91			37		0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106930	93106930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:93106930G>A	uc003umv.2	-	5	610	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P86S|CALCR_uc003umw.2_Missense_Mutation_p.P86S	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	86					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.D103V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ACTCCAGCCGGTGTGTCATCC	0.418000														68			11		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19744544	19744544	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19744544C>T	uc003sup.1	-	2	276	c.255_splice	c.e2-1	p.S85_splice		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	85						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						ACCTAAAAGGCTGTAAAAAGA	0.368000														86			14		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220162648	220162648	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220162648C>T	uc002vkz.3	-	12	2087	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PTPRN_uc010zlc.2_Missense_Mutation_p.G526R|PTPRN_uc002vla.3_Missense_Mutation_p.G587R	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	616					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCTCAGGCCCCAGGGCTGCC	0.647000														62			16		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22337474	22337474	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22337474G>T	uc021rpg.1	+	1	328	c.265G>T	c.(265-267)Gcc>Tcc	p.A89S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85.																		GAACAAGACAGCCAAACATTT	0.458000														159			38		9.8876e-21	1.20929e-20	1	1	0
AK097470	0	broad.mit.edu	37	7	136848873	136848873	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136848873G>A	uc003vtp.1	-	0		c.216C>T								Homo sapiens clone N1 NTera2D1 teratocarcinoma mRNA.																		TCTACCTGAGGCTGTTGGTCA	0.502000														58			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026176	79026176	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026176G>A	uc003kgc.3	+	1	1660	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	530	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGTAGAAGAAGAGATCGTAGA	0.418000														142			34		0	0	1	0	0
HDAC7	51564	broad.mit.edu	37	12	48188548	48188548	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48188548G>A	uc010slo.2	-	11	1648	c.1453C>T	c.(1453-1455)Cct>Tct	p.P485S	HDAC7_uc001rqe.3_5'Flank|HDAC7_uc001rqj.4_Missense_Mutation_p.P448S|HDAC7_uc001rqk.4_Missense_Mutation_p.P468S	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.	446	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CATACCTGAGGGTGCTGCTGG	0.657000														106			26		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66535523	66535523	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66535523G>T	uc002jho.3	-	9	1604	c.1316C>A	c.(1315-1317)tCc>tAc	p.S439Y	FAM20A_uc010wqp.2_Missense_Mutation_p.S301Y|FAM20A_uc002jhn.3_Missense_Mutation_p.S150Y	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	439						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TTCATCATGGGAGTGTCGTCC	0.517000														112			18		1.01871e-10	1.15017e-10	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18025661	18025661	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025661G>T	uc021trm.1	+	0	3766	c.3547G>T	c.(3547-3549)Gct>Tct	p.A1183S	MYO15A_uc021trl.1_Missense_Mutation_p.A1183S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1183	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGCCCTGGAGCTGCCTGCCT	0.637000														134			26		1.42536e-11	1.62618e-11	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56091492	56091492	+	Missense_Mutation	SNP	C	T	T	rs61733964	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56091492C>T	uc001shh.3	-	8	1628	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	ITGA7_uc001shg.3_Missense_Mutation_p.A466T|ITGA7_uc010sps.2_Missense_Mutation_p.A373T|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.A353T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	510					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGAGCACTGCGGTGTCAGCC	0.597000														201			9		0	0	1	0	0
MAP3K14	9020	broad.mit.edu	37	17	43364233	43364233	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43364233C>T	uc002iiw.1	-	5	823	c.714G>A	c.(712-714)gtG>gtA	p.V238V	MAP3K14_uc010daj.1_Non-coding_Transcript|MAP3K14_uc002iiv.1_5'UTR	NM_003954	NP_003945	Q99558	M3K14_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 14 (MAP3K14), mRNA.	239					I-kappaB kinase/NF-kappaB cascade|T cell costimulation|cellular response to mechanical stimulus|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCAGTTTCCACACGTGGTTCA	0.612000														97			5		0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99454485	99454485	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99454485C>T	uc003ury.1	+	8	931	c.828C>T	c.(826-828)atC>atT	p.I276I	CYP3A43_uc003urx.1_Silent_p.I276I|CYP3A43_uc003urz.1_Silent_p.I276I|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Silent_p.I166I|CYP3A43_uc003usb.1_Silent_p.I136I	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	276			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	AACAGATGATCGACTCCCAGA	0.433000														145			36		0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76012831	76012831	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76012831C>T	uc001xrr.3	+	2	437	c.195C>T	c.(193-195)aaC>aaT	p.N65N		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	65	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGAAACAGAACGCGGCTCTAC	0.607000														94			11		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82435043	82435043	+	Missense_Mutation	SNP	T	C	C	rs150031756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82435043T>C	uc001dit.4	+	13	2835	c.2654T>C	c.(2653-2655)cTa>cCa	p.L885P	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.L885P|LPHN2_uc001div.3_Missense_Mutation_p.L885P|LPHN2_uc009wcd.3_Missense_Mutation_p.L885P|LPHN2_uc001diw.3_Missense_Mutation_p.L469P|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	898					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.L885P(2)|p.L898P(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTTATTTTCCTAATAGGCATT	0.368000														104			15		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29727889	29727889	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29727889C>T	uc003afj.3	-	17	2513	c.2326G>A	c.(2326-2328)Gcc>Acc	p.A776T	AP1B1_uc003afl.3_Missense_Mutation_p.A749T|AP1B1_uc003afi.3_Missense_Mutation_p.A769T|AP1B1_uc003afh.3_5'UTR|AP1B1_uc011ako.2_Missense_Mutation_p.A329T	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	776					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						AGGGGGGTGGCGGGGGCCAGG	0.667000														132			27		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137569813	137569813	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137569813G>A	uc003vtw.3	-	9	1594	c.1198C>T	c.(1198-1200)Ccc>Tcc	p.P400S	CREB3L2_uc003vtx.2_Missense_Mutation_p.P400S|CREB3L2_uc003vtv.3_Missense_Mutation_p.P337S	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	400					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GAAGGATAGGGCCCGTAGCCT	0.587000			T	FUS	fibromyxoid sarcoma									135			23		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806822	22806822	+	Missense_Mutation	SNP	C	T	T	rs140504840		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806822C>T	uc002kvk.2	-	3	1307	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.V354M|ZNF521_uc002kvl.2_Missense_Mutation_p.V134M	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	354					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTACTGGACACGGAGGTATAG	0.577000			T	PAX5	ALL									106			30		0	0	1	0	0
SEPT8	23176	broad.mit.edu	37	5	132097246	132097246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132097246C>T	uc003kxr.2	-	6	1104	c.866G>A	c.(865-867)cGc>cAc	p.R289H	SEPT8_uc003kxs.1_Missense_Mutation_p.R289H|SEPT8_uc003kxu.2_Missense_Mutation_p.R289H|SEPT8_uc011cxi.1_Missense_Mutation_p.R287H|SEPT8_uc003kxv.2_Missense_Mutation_p.R287H|SEPT8_uc003kxt.2_Missense_Mutation_p.R229H	NM_001098811	NP_001092281	Q92599	SEPT8_HUMAN	Homo sapiens septin 8 (SEPT8), transcript variant 1, mRNA.	289					cell cycle	septin complex	GTP binding|protein binding	p.L288L(1)	SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTCTGCTCGCGGAGGTCTTC	0.587000														132			31		0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32624336	32624336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32624336G>A	uc002yow.1	-	5	1605	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	TIAM1_uc011adk.1_Missense_Mutation_p.A378V|TIAM1_uc011adl.1_Missense_Mutation_p.A378V|TIAM1_uc002yox.1_5'UTR	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGACGAGCCGCATCCCCGGT	0.662000														248			29		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22156630	22156630	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22156630A>G	uc021urr.1	-	3	1355	c.1206T>C	c.(1204-1206)tgT>tgC	p.C402C	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AACCTTTGCCACATTCTTCAC	0.383000														76			12		0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97529765	97529765	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97529765G>A	uc002sxg.4	-	8	1618	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	SEMA4C_uc002sxf.4_5'Flank|SEMA4C_uc002sxe.3_5'Flank|SEMA4C_uc002sxh.4_Missense_Mutation_p.R410C	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.	410	Dominant negative effect on myogenic differentiation (By similarity).|Sema.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	p.R410C(1)		NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						AGCAGGGGGCGGCTCCACCGA	0.617000														88			20		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21084355	21084355	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21084355T>C	uc021uie.1	+	1	244	c.123T>C	c.(121-123)ggT>ggC	p.G41G	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Silent_p.G41G|C18orf8_uc010xaw.1_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	41										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTCGATCTGGTGGAGCTACTG	0.433000														164			35		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903264	6903264	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903264C>T	uc003bqm.2	+	0	463	c.189C>T	c.(187-189)agC>agT	p.S63S	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.S63S|GRM7_uc003bql.2_Silent_p.S63S	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	63					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding	p.S63R(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGGGTCCCAGCGGAGTGCCCT	0.662000														43			4		0	0	1	0	0
HAL	3034	broad.mit.edu	37	12	96386496	96386496	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96386496G>A	uc001tem.1	-	8	974	c.677C>T	c.(676-678)tCc>tTc	p.S226F	HAL_uc010sux.1_Missense_Mutation_p.S226F|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_Missense_Mutation_p.S18F	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	226					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.S226S(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GGTCTCCAGGGAAATGCCACT	0.468000														181			53		0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37771157	37771157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37771157C>T	uc003asq.4	-	2	1204	c.418G>A	c.(418-420)Gag>Aag	p.E140K	ELFN2_uc021wph.1_Missense_Mutation_p.E140K	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	140						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					GTCACCACCTCGATGAGGTTG	0.637000														261			56		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56498955	56498955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56498955C>T	uc003pcy.4	-	12	2093	c.1985G>A	c.(1984-1986)aGa>aAa	p.R662K	DST_uc021zay.1_Missense_Mutation_p.R1028K|DST_uc021zax.1_Missense_Mutation_p.R662K|DST_uc003pdc.4_Missense_Mutation_p.R662K|DST_uc003pdd.4_Missense_Mutation_p.R662K	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	988					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AGCTCGAATTCTATCAATTTC	0.378000														113			23		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152683354	152683354	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152683354C>A	uc021zhb.1	-	61	10473	c.10250G>T	c.(10249-10251)aGg>aTg	p.R3417M	SYNE1_uc003qot.4_Missense_Mutation_p.R3424M|SYNE1_uc003qou.4_Missense_Mutation_p.R3417M|SYNE1_uc010kja.2_Missense_Mutation_p.R122M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3417					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGCATGCTGCCTTTCTGATTC	0.483000										HNSCC(10;0.0054)				114			25		4.4004e-07	4.72415e-07	1	1	0
ZFP28	140612	broad.mit.edu	37	19	57060343	57060343	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57060343G>T	uc002qnj.3	+	4	611	c.540G>T	c.(538-540)tgG>tgT	p.W180C	ZFP28_uc002qni.3_Missense_Mutation_p.W180C|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGCTGTGTGGAAGATCAAGG	0.378000														54			7		5.18039e-06	5.47662e-06	1	1	0
C12orf68	387856	broad.mit.edu	37	12	48577906	48577906	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48577906A>G	uc001rrj.2	+	0	541	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	1						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						CTGCCACTCAATGGAGGACGG	0.721000														110			21		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176308126	176308126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176308126G>A	uc003mfa.3	-	18	2812	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	HK3_uc003mez.3_Missense_Mutation_p.A463V	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	907	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCAGGGCCGCACCTTTGCC	0.662000														90			25		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114058034	114058034	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114058034C>T	uc003ebi.3	-	4	2224	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	ZBTB20_uc003ebj.3_Missense_Mutation_p.A609T|ZBTB20_uc010hqp.3_Missense_Mutation_p.A609T|ZBTB20_uc003ebk.3_Missense_Mutation_p.A609T|ZBTB20_uc003ebl.3_Missense_Mutation_p.A609T|ZBTB20_uc003ebm.3_Missense_Mutation_p.A609T|ZBTB20_uc003ebn.3_Missense_Mutation_p.A609T	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CTGTGCAGGGCCACGTGTCGC	0.647000														173			38		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41125325	41125325	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41125325C>A	uc002ooh.1	+	25	3342	c.3342C>A	c.(3340-3342)ctC>ctA	p.L1114L	LTBP4_uc002oog.1_Silent_p.L1077L|LTBP4_uc002ooi.1_Silent_p.L1047L|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.L249L|LTBP4_uc002ool.1_Silent_p.L127L|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'UTR	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1115	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCCTTCCTCTGTGTCTGCC	0.522000														121			15		1.05317e-09	1.17384e-09	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38610136	38610136	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610136C>A	uc002ohk.3	+	8	2991	c.2482C>A	c.(2482-2484)Ctg>Atg	p.L828M		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	828	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCTCAAGGACCTGGCCGAAAA	0.557000														132			36		5.8336e-16	6.9331e-16	1	1	0
CTDSP2	10106	broad.mit.edu	37	12	58223343	58223343	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58223343C>T	uc001sqm.3	-	1	630	c.101G>A	c.(100-102)gGa>gAa	p.G34E	CTDSP2_uc009zqf.3_5'UTR|CTDSP2_uc009zqg.3_Missense_Mutation_p.G34E	NM_005730	NP_005721	O14595	CTDS2_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 (CTDSP2), mRNA.	34					protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					GATGTTACGTCCACGAGGCTT	0.517000														197			20		0	0	1	0	0
FTSJD1	55783	broad.mit.edu	37	16	71319453	71319453	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71319453C>A	uc021tkr.1	-	0	371	c.371G>T	c.(370-372)aGc>aTc	p.S124I	FTSJD1_uc010cga.3_Missense_Mutation_p.S124I|FTSJD1_uc002ezy.4_Missense_Mutation_p.S124I|FTSJD1_uc002ezz.4_Missense_Mutation_p.S124I	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	124						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGTGGAAAGCTGCACAAAAT	0.388000														95			25		2.21704e-12	2.55528e-12	1	1	0
P2RY13	53829	broad.mit.edu	37	3	151046509	151046509	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151046509C>T	uc003eyv.2	-	1	356	c.335G>A	c.(334-336)aGa>aAa	p.R112K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_176894	NP_795713	Q9BPV8	P2Y13_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 13 (P2RY13), mRNA.	112						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			CACAAAAGCTCTGAGCTGCCA	0.453000														138			30		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82453599	82453599	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82453599G>A	uc003uhx.2	-	18	14838	c.14549C>T	c.(14548-14550)tCt>tTt	p.S4850F	PCLO_uc003uhv.2_Missense_Mutation_p.S4850F|PCLO_uc003uht.1_Missense_Mutation_p.S292F|PCLO_uc003uhu.1_Missense_Mutation_p.S271F	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4712					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGATAACAGATGGCTTTGG	0.418000														38			12		0	0	1	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48216883	48216883	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48216883C>T	uc002iqh.4	-	6	1909	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	642	Interacts with TGN38 (By similarity).				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						ACCTCGATGGCCATCTCACCA	0.622000														271			76		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140711975	140711975	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140711975C>T	uc011mfc.2	+	23	3496	c.3459C>T	c.(3457-3459)tgC>tgT	p.C1153C	EHMT1_uc004coe.3_Silent_p.C58C	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1153	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCTTTGTCTGCGAGTGAGTGA	0.612000														133			18		0	0	1	0	0
MOB2	81532	broad.mit.edu	37	11	1491566	1491566	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1491566G>A	uc010qwz.2	-	4	805	c.643C>T	c.(643-645)Ctc>Ttc	p.L215F	MOB2_uc001ltq.2_Missense_Mutation_p.L178F|MOB2_uc001lto.2_Missense_Mutation_p.L99F|MOB2_uc001ltp.1_5'UTR	NM_001172223	NP_001165694	Q70IA6	MOB2_HUMAN	Homo sapiens MOB kinase activator 2 (MOB2), transcript variant 1, mRNA.	184						nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|kidney(2)|lung(1)	4						CGAGCAAAGAGGATGAAGTGG	0.617000														235			47		0	0	1	0	0
PCBP1	5093	broad.mit.edu	37	2	70315305	70315305	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70315305C>T	uc002sgf.3	+	0	721	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	144	KH 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						CTCCACCGAGCGGGCCATCAC	0.622000														161			55		0	0	1	0	0
IQCF1	132141	broad.mit.edu	37	3	51929102	51929102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51929102C>T	uc003dbv.3	-	3	520	c.422G>A	c.(421-423)cGc>cAc	p.R141H	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	141	IQ 2.							p.R141C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATAGCGTCTGCGGATGCGCCA	0.607000														236			49		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46107841	46107841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46107841C>T	uc003oxy.3	+	1	780	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	174						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTAAACAATTCGAACCCACCA	0.393000														136			25		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565074	27565074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27565074G>A	uc002rju.1	-	3	1026	c.629C>T	c.(628-630)gCt>gTt	p.A210V	GTF3C2_uc002rjv.1_Missense_Mutation_p.A199V|GTF3C2_uc002rjw.1_Missense_Mutation_p.A199V|GTF3C2_uc010eyz.2_Missense_Mutation_p.A199V	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	199						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCTCTTCAGCCAGTTCCTG	0.562000														83			37		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156479385	156479385	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156479385C>T	uc010jij.1	-	3	845	c.660G>A	c.(658-660)caG>caA	p.Q220Q	HAVCR1_uc011ddl.1_Silent_p.Q51Q|HAVCR1_uc003lwi.2_Silent_p.Q220Q|HAVCR1_uc021ygj.1_Silent_p.Q220Q|HAVCR1_uc021ygk.1_Silent_p.Q51Q|HAVCR1_uc011ddm.2_Silent_p.Q220Q	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	215					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTTCATGGTTCTGCCTGGGCA	0.488000														254			21		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169846869	169846869	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169846869A>C	uc003fgl.2	-	7	1425	c.1391T>G	c.(1390-1392)cTt>cGt	p.L464R	PHC3_uc010hws.1_Missense_Mutation_p.L452R|PHC3_uc011bpq.1_Missense_Mutation_p.L411R|PHC3_uc011bpr.1_Missense_Mutation_p.L378R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	452	Gln-rich.|Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGGGATGGAAGATTCAACTG	0.522000														31			11		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672987	99672987	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99672987C>T	uc002bup.3	+	4	4539	c.4419C>T	c.(4417-4419)agC>agT	p.S1473S	SYNM_uc002buo.3_Silent_p.S1161S|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1474	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CGATCCGCAGCCGGACACAGG	0.552000														410			76		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069836	114069836	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069836G>A	uc003ebi.3	-	3	1269	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	ZBTB20_uc003ebj.3_Silent_p.A290A|ZBTB20_uc010hqp.3_Silent_p.A290A|ZBTB20_uc003ebk.3_Silent_p.A290A|ZBTB20_uc003ebl.3_Silent_p.A290A|ZBTB20_uc003ebm.3_Silent_p.A290A|ZBTB20_uc003ebn.3_Silent_p.A290A|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGCCCTCGGCCTGGTCTG	0.602000														160			43		0	0	1	0	0
FAM82A1	151393	broad.mit.edu	37	2	38202392	38202392	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38202392G>A	uc002rqn.2	+	3	1325	c.1199G>A	c.(1198-1200)cGt>cAt	p.R400H	FAM82A1_uc002rqk.1_Missense_Mutation_p.R77H|FAM82A1_uc002rql.3_Missense_Mutation_p.R222H|FAM82A1_uc021vga.1_Missense_Mutation_p.R222H|FAM82A1_uc002rqm.3_Missense_Mutation_p.R77H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	222						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						CGATTTGCTCGTGCTTATGGA	0.318000														51			29		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336891	72336891	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72336891C>A	uc010lal.1	-	0		c.2765G>T								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		CCCCGCTGTCCCAGGGCATTG	0.478000														227			56		2.74695e-27	3.44014e-27	1	1	0
STAM	8027	broad.mit.edu	37	10	17747711	17747711	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17747711A>G	uc001ipj.2	+	11	1395	c.1180A>G	c.(1180-1182)Atg>Gtg	p.M394V	STAM_uc010qcf.2_Missense_Mutation_p.M283V|STAM_uc009xjw.2_Missense_Mutation_p.M52V	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	394					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GCCATATTATATGCAGTCATC	0.393000														162			28		0	0	1	0	0
MAP2K6	5608	broad.mit.edu	37	17	67513640	67513640	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67513640G>A	uc002jij.3	+	4	421	c.133_splice	c.e4-1	p.N45_splice	MAP2K6_uc002jii.3_Splice_Site_p.N45_splice|MAP2K6_uc002jik.3_Splice_Site_p.N75_splice	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	45					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CTCTCTTGCAGAACTTTGAGG	0.473000														51			13		0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213878658	213878658	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:213878658A>G	uc002vem.3	-	7	882	c.713_splice	c.e7-1	p.V238_splice	IKZF2_uc010fuu.3_Splice_Site_p.V93_splice|IKZF2_uc002vej.3_Splice_Site_p.V185_splice|IKZF2_uc002vek.3_Splice_Site|IKZF2_uc010fuv.3_Intron|IKZF2_uc002vel.3_Splice_Site_p.V159_splice|IKZF2_uc010fuw.3_Splice_Site_p.V12_splice|IKZF2_uc010fux.3_Splice_Site_p.V12_splice|IKZF2_uc010fuy.3_Splice_Site_p.V166_splice|IKZF2_uc002ven.3_Splice_Site_p.V212_splice|IKZF2_uc002vei.3_Missense_Mutation_p.V16A	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		CATAGGAGGTACTATACAAAA	0.378000														93			16		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117403205	117403205	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117403205G>T	uc001prh.1	-	3	726	c.724C>A	c.(724-726)Ctg>Atg	p.L242M	DSCAML1_uc001pri.1_Missense_Mutation_p.L46M	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	182	Ig-like C2-type 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G241V(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GAGATGTACAGCCCGCCGTGG	0.547000														141			11		1.58986e-06	1.69271e-06	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124359997	124359997	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124359997C>A	uc001uft.4	+	45	7829	c.7804C>A	c.(7804-7806)Ctg>Atg	p.L2602M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2602	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGAGGAGTCTCTGCATTTAAT	0.448000														101			23		5.35356e-11	6.06456e-11	1	1	0
DNER	92737	broad.mit.edu	37	2	230231694	230231694	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230231694C>T	uc002vpv.3	-	11	2144	c.1997G>A	c.(1996-1998)cGc>cAc	p.R666H		NM_139072	NP_620711	Q8NFT8	DNER_HUMAN	Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA.	666					Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GTATTCAATGCGGCTGATGCG	0.542000														110			13		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815376	23815376	+	Missense_Mutation	SNP	G	A	A	rs17847360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815376G>A	uc003gqs.3	-	7	1850	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	577	Arg/Ser-rich.				RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TCGGGAACACGACCTGTGTCG	0.458000														84			25		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136198	55136198	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55136198T>C	uc010rif.2	+	0	839	c.839T>C	c.(838-840)gTc>gCc	p.V280A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATTCTTTGTCCCCTGTATC	0.413000														234			52		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104871201	104871201	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104871201C>T	uc010ruz.1	-	5	810	c.778G>A	c.(778-780)Gca>Aca	p.A260T	CASP5_uc010rva.1_Missense_Mutation_p.A247T|CASP5_uc010rvb.1_Missense_Mutation_p.A189T|CASP5_uc010rvc.1_Missense_Mutation_p.A105T|CASP5_uc009yxh.2_Missense_Mutation_p.A29T|CASP5_uc010rvd.1_Missense_Mutation_p.A29T	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	247					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	p.G259R(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GCAGCAAATGCCCTCAGCACT	0.458000														82			17		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126092	121126092	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121126092A>G	uc003eec.4	+	23	2802	c.2662A>G	c.(2662-2664)Aca>Gca	p.T888A	STXBP5L_uc011bji.2_Missense_Mutation_p.T864A	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	888					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTTTATAGGTACATTCCTCTC	0.363000														74			8		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126211352	126211352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126211352C>T	uc010hsi.2	-	16	1751	c.1697G>A	c.(1696-1698)gGc>gAc	p.G566D	UROC1_uc003eiz.2_Missense_Mutation_p.G506D	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	506					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TGCCTGGGAGCCCACCACCTG	0.602000														45			12		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780850	128780850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780850G>A	uc003elm.2	+	2	455	c.268G>A	c.(268-270)Gac>Aac	p.D90N	GP9_uc021xdn.1_Missense_Mutation_p.D90N	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	90	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CTGGCACTGTGACTGCAGCCT	0.682000														157			17		0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4689283	4689283	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4689283G>A	uc002fyx.3	-	1	342	c.260C>T	c.(259-261)gCg>gTg	p.A87V	VMO1_uc010vsh.2_Missense_Mutation_p.A87V|VMO1_uc010vsi.2_Missense_Mutation_p.A87V|VMO1_uc002fyy.3_Intron|GLTPD2_uc002fza.2_5'Flank	NM_182566	NP_872372	Q7Z5L0	VMO1_HUMAN	Homo sapiens vitelline membrane outer layer 1 homolog (chicken) (VMO1), transcript variant 1, mRNA.	87					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						GTTCCCGCGCGCGCAGTGCAG	0.632000														109			13		0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141384546	141384546	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384546G>A	uc003lmf.4	-	3	1304	c.545C>T	c.(544-546)cCc>cTc	p.P182L	GNPDA1_uc003lmg.4_Missense_Mutation_p.P182L|GNPDA1_uc010jgh.3_Missense_Mutation_p.P182L|GNPDA1_uc003lmh.4_Missense_Mutation_p.P148L	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	182					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCATGGTGGGCACCTTGGT	0.587000														36			8		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67662366	67662366	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67662366C>A	uc002etl.3	+	8	2056	c.1612C>A	c.(1612-1614)Ctc>Atc	p.L538I	CTCF_uc010cek.3_Missense_Mutation_p.L210I|CTCF_uc002etm.1_Missense_Mutation_p.L27I	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	538					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGCAGCTTCTCGACATGCA	0.547000														205			55		4.17463e-26	5.21157e-26	1	1	0
UVRAG	7405	broad.mit.edu	37	11	75718637	75718637	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75718637A>G	uc001oxc.3	+	9	1212	c.971A>G	c.(970-972)gAg>gGg	p.E324G	UVRAG_uc010rrw.2_Missense_Mutation_p.E223G|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	324					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						TTACTCTCTGAGCTTTCCTAC	0.303000														48			8		0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104642801	104642801	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104642801G>A	uc001yos.4	+	11	3676	c.3676G>A	c.(3676-3678)Gct>Act	p.A1226T		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1226					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGTGGGCTGTGCTCGCCTGGG	0.697000														89			28		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121659225	121659225	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121659225T>G	uc003vjy.3	+	12	5286	c.4891T>G	c.(4891-4893)Ttg>Gtg	p.L1631V	PTPRZ1_uc011knt.2_Missense_Mutation_p.L771V|PTPRZ1_uc003vjz.3_Missense_Mutation_p.L771V	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1631					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGCTGAGGGGTTGGAATCCGA	0.438000														85			13		0	0	1	0	0
DGKA	1606	broad.mit.edu	37	12	56333198	56333198	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56333198G>T	uc001sij.3	+	9	859	c.595_splice	c.e9-1	p.T199_splice	DGKA_uc009zoc.1_Splice_Site_p.T199_splice|DGKA_uc001sih.1_Splice_Site_p.T87_splice|DGKA_uc001sii.1_Splice_Site_p.T57_splice|DGKA_uc009zod.1_Splice_Site_p.T118_splice|DGKA_uc009zoe.1_Splice_Site_p.T199_splice|DGKA_uc001sik.3_Splice_Site_p.T199_splice|DGKA_uc001sil.3_Splice_Site_p.T199_splice|DGKA_uc001sim.3_Splice_Site_p.T199_splice|DGKA_uc001sin.3_Splice_Site_p.T199_splice|DGKA_uc009zof.3_Splice_Site|DGKA_uc001sio.3_Splice_Site	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	199					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGCCTTCCTAGACTCTGAAGG	0.542000														318			15		6.31663e-08	6.86475e-08	1	1	0
POLA1	5422	broad.mit.edu	37	X	24732735	24732735	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24732735G>A	uc004dbl.3	+	4	408	c.393G>A	c.(391-393)ccG>ccA	p.P131P	POLA1_uc004dbm.3_Silent_p.P137P	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	131					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding	p.P131L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	TGACAAAACCGAACAACATTA	0.353000														17			7		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047105	9047105	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9047105A>C	uc002mkp.3	-	4	34730	c.34526T>G	c.(34525-34527)tTt>tGt	p.F11509C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11511	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						ACTATGGGAAAACTTGGGAGT	0.502000														160			33		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39910396	39910396	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39910396A>G	uc021olw.1	+	44	14823	c.14823A>G	c.(14821-14823)agA>agG	p.R4941R	MACF1_uc021ols.1_Silent_p.R4436R|MACF1_uc021olt.1_Silent_p.R4439R	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6508					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACAAGGGCAGACTCATGCTTC	0.458000														80			10		0	0	1	0	0
C3P1	388503	broad.mit.edu	37	19	10160702	10160702	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10160702C>A	uc010dwx.2	+	11		c.1608C>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CAAGGAGACACTGTGCAGTGC	0.582000														175			22		4.72057e-08	5.14176e-08	1	1	0
PCSK4	54760	broad.mit.edu	37	19	1486949	1486949	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1486949C>A	uc002ltb.1	-	7	1033	c.971G>T	c.(970-972)aGc>aTc	p.S324I	PCSK4_uc002lta.2_Missense_Mutation_p.S136I	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	324	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGGTGGTGCTGCCCACGGA	0.672000														161			49		7.05377e-20	8.59273e-20	1	1	0
NR2C1	7181	broad.mit.edu	37	12	95422177	95422177	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422177A>G	uc001tdm.4	-	11	1773	c.1517T>C	c.(1516-1518)gTa>gCa	p.V506A	NR2C1_uc010suu.1_3'UTR	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	506					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.I505>?(1)|p.V506V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						ACTGAAGAGTACTATTGCCTT	0.358000														53			9		0	0	1	0	0
PRTN3	5657	broad.mit.edu	37	19	840986	840986	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:840986G>A	uc002lqa.1	+	1	1	c.-23_splice	c.e1-1		PRTN3_uc021umb.1_5'Flank	NM_002777	NP_002768	P24158	PRTN3_HUMAN	Homo sapiens proteinase 3 (PRTN3), mRNA.						collagen catabolic process|positive regulation of cell proliferation|proteolysis		protein binding|serine-type endopeptidase activity			lung(1)|ovary(2)|urinary_tract(1)	4		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCTTGACCGTGGGTGCACC	0.662000														47			8		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150945633	150945633	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150945633G>A	uc003lue.4	-	0	2873	c.2860C>T	c.(2860-2862)Ctg>Ttg	p.L954L	FAT2_uc010jhx.1_Silent_p.L954L	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	954	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCGGGGCCCAGGTCAGGATCA	0.587000														77			11		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42416721	42416721	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42416721G>A	uc003gwr.2	-	35	3552	c.3320C>T	c.(3319-3321)gCg>gTg	p.A1107V	ATP8A1_uc003gwq.2_Missense_Mutation_p.A333V|ATP8A1_uc003gws.2_Missense_Mutation_p.A1092V	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1107					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1107V(2)|p.A1092V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGCAGTTGCGCCCTCTCGGT	0.473000														138			35		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677451	37677451	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677451C>T	uc002ofq.3	-	4	1240	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	ZNF585B_uc002ofr.1_Missense_Mutation_p.E144K	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCCCATATTCGGTACATATA	0.398000														164			46		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083844	8083844	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083844G>T	uc001qtr.3	-	3	769	c.507C>A	c.(505-507)gcC>gcA	p.A169A		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	169					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGAGTACCTGGGCCACCAGAA	0.458000														115			34		1.36615e-20	1.66935e-20	1	1	0
RDH11	51109	broad.mit.edu	37	14	68159251	68159251	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68159251T>G	uc001xjv.4	-	2	343	c.253A>C	c.(253-255)Atc>Ctc	p.I85L	RDH11_uc001xjx.4_Missense_Mutation_p.I85L|RDH11_uc001xjw.4_Missense_Mutation_p.I72L	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	85					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	GTGGTCTGGATCTCTTTGGCC	0.483000														306			52		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18075471	18075471	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18075471G>A	uc021trm.1	+	63	10436	c.10217_splice	c.e63-1	p.G3406_splice	MYO15A_uc021trl.1_Splice_Site_p.G3404_splice|MYO15A_uc010vxi.2_Splice_Site_p.G670_splice|MYO15A_uc010vxk.1_Splice_Site_p.G99_splice|MYO15A_uc010vxl.1_Splice_Site_p.G395_splice|MYO15A_uc002gsl.3_Intron|MYO15A_uc010vxm.2_Splice_Site_p.A230_splice|MYO15A_uc010cpv.3_Splice_Site	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3406	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCCTGCCCAGGCCTCCTCAGC	0.597000														134			29		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39873093	39873093	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39873093T>C	uc010lwy.1	+	10	1477	c.1235T>C	c.(1234-1236)tTg>tCg	p.L412S	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Missense_Mutation_p.L153S|IDO2_uc003xnp.1_Missense_Mutation_p.L153S	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	399					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						GATAAGACCTTGGAGTCAATC	0.567000														159			32		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935069	56935069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935069G>A	uc010ygl.1	+	4	1207	c.1042G>A	c.(1042-1044)Gga>Aga	p.G348R	ZNF583_uc002qnc.2_Missense_Mutation_p.G348R|ZNF583_uc010ygm.1_Missense_Mutation_p.G348R	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AATTCATACAGGAGAGAAACC	0.413000														104			22		0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49575496	49575496	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49575496G>A	uc002xvy.1	+	0	134	c.117G>A	c.(115-117)caG>caA	p.Q39Q	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	39					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						AGGAACCGCAGCCAGAACGGC	0.607000														260			22		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122631763	122631763	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122631763C>T	uc003efz.1	-	17	2956	c.2652G>A	c.(2650-2652)gaG>gaA	p.E884E	SEMA5B_uc011bju.1_Silent_p.E826E|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.E884E|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	884	TSP type-1 3.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CGTTGCGGGGCTCCGGGTTAG	0.706000														161			43		0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76969510	76969510	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76969510G>A	uc001oyf.3	-	9	1036	c.785C>T	c.(784-786)tCt>tTt	p.S262F		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	262	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCGCAGGCAGATTCTGGCTG	0.448000														187			15		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43986136	43986136	+	Missense_Mutation	SNP	C	T	T	rs146373261		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986136C>T	uc001uza.4	-	4	424	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	ENOX1_uc001uzc.4_Missense_Mutation_p.V42M|ENOX1_uc001uzb.4_Missense_Mutation_p.V42M	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	42					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		GGATCTGTCACGGACATGTTG	0.537000														91			21		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118462854	118462854	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118462854G>A	uc001ehf.3	-	1	426	c.127C>T	c.(127-129)Cga>Tga	p.R43*	GDAP2_uc001ehg.3_Nonsense_Mutation_p.R43*	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	43	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		AAAGGTGATCGAACAGTGTCT	0.358000														79			9		0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67206391	67206391	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67206391G>A	uc001oll.2	-	10	1228	c.1095C>T	c.(1093-1095)ccC>ccT	p.P365P	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Silent_p.P365P|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	365					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGGCTGTGTCGGGGTACAGAT	0.687000														44			9		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108044536	108044536	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108044536T>C	uc001pjz.4	-	12	1277	c.1175A>G	c.(1174-1176)aAt>aGt	p.N392S	NPAT_uc001pka.3_Missense_Mutation_p.N187S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	392					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGTCATCATTCTGATAGGA	0.398000														85			10		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	93011074	93011074	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011074G>A	uc001khi.3	+	5	759	c.351G>A	c.(349-351)ccG>ccA	p.P117P	PCGF5_uc001khh.3_Silent_p.P117P|PCGF5_uc010qnk.2_Silent_p.P117P	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CTGACAAACCGAAAGTAGATG	0.299000														50			10		0	0	1	0	0
MSL1	339287	broad.mit.edu	37	17	38282635	38282635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38282635G>A	uc002hub.3	+	1	384	c.365G>A	c.(364-366)gGg>gAg	p.G122E	MSL1_uc002hua.4_Missense_Mutation_p.G60E|MSL1_uc002huc.2_Missense_Mutation_p.G60E|MSL1_uc021txa.1_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	323	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						TTCTCATGTGGGCGGAGTGGA	0.478000														48			12		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157099043	157099043	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157099043G>A	uc003fbj.2	-	6	1448	c.1029C>T	c.(1027-1029)ggC>ggT	p.G343G	VEPH1_uc003fbk.2_Silent_p.G343G|VEPH1_uc010hvu.2_Silent_p.G343G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	343						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTCTGAGGGCCCAAGATTG	0.507000														181			48		0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51686244	51686244	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51686244C>T	uc002lfg.2	-	5	1368	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	380					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CAATTTCTTGCGTACTTGCTG	0.403000														120			17		0	0	1	0	0
BTG3	10950	broad.mit.edu	37	21	18981409	18981409	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:18981409T>C	uc002ykl.3	-	1	314	c.54A>G	c.(52-54)aaA>aaG	p.K18K	BTG3_uc002ykk.3_Silent_p.K18K	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	18					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		p.R17*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ACTTATCATGTTTTCGAACTA	0.323000														94			19		0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16077436	16077436	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16077436G>A	uc001mme.3	-	9	1185	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	SOX6_uc001mmd.3_Silent_p.A333A|SOX6_uc001mmf.3_Silent_p.A330A|SOX6_uc001mmg.3_Silent_p.A371A	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	371					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CCAGCTGAGCGGCATAGAGCT	0.448000														82			21		0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437372	15437372	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15437372T>G	uc003gno.3	+	1	285	c.26T>G	c.(25-27)tTt>tGt	p.F9C	C1QTNF7_uc011bxb.2_Missense_Mutation_p.F2C|C1QTNF7_uc003gnp.3_Missense_Mutation_p.F2C	NM_001135170	NP_114117	Q9BXJ2	C1QT7_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 7 (C1QTNF7), transcript variant 1, mRNA.	2						collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CCAAAGATGTTTGTCTTGCTC	0.448000														114			6		0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25747794	25747794	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25747794G>T	uc003abs.3	-	3	3196	c.731C>A	c.(730-732)gCt>gAt	p.A244D	LRP5L_uc011ajz.2_Missense_Mutation_p.A244D|LRP5L_uc010guw.1_Intron	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	244										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						AGATGGGGCAGCCAAACCGGG	0.582000														183			10		2.74318e-10	3.085e-10	1	1	0
MRPS15	64960	broad.mit.edu	37	1	36921477	36921477	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36921477G>T	uc001cas.2	-	7	850	c.686C>A	c.(685-687)gCt>gAt	p.A229D		NM_031280	NP_112570	P82914	RT15_HUMAN	Homo sapiens mitochondrial ribosomal protein S15 (MRPS15), nuclear gene encoding mitochondrial protein, mRNA.	229					translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGCTGCTGCAGCCTTTAAGGC	0.473000														168			12		1.08611e-07	1.17606e-07	1	1	0
DPF1	8193	broad.mit.edu	37	19	38706892	38706892	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38706892C>A	uc021uty.1	-	8	894	c.867G>T	c.(865-867)aaG>aaT	p.K289N	DPF1_uc002ohm.3_Missense_Mutation_p.K289N|DPF1_uc002ohl.3_Missense_Mutation_p.K245N|DPF1_uc002ohn.3_Missense_Mutation_p.K207N	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	245					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGTCGGGCGCCTTCTTGGCTG	0.627000														99			33		2.85442e-18	3.44571e-18	1	1	0
AGAP6	414189	broad.mit.edu	37	10	51748543	51748543	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51748543C>T	uc001jix.4	+	0	466	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	23					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CAGCAGGGGTCGGTGTGTCCC	0.607000														105			42		0	0	1	0	0
NARFL	64428	broad.mit.edu	37	16	784812	784812	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:784812G>A	uc002cjr.3	-	4	511	c.499C>T	c.(499-501)Cga>Tga	p.R167*	NARFL_uc002cjp.3_Nonsense_Mutation_p.R65*|NARFL_uc002cjq.3_Nonsense_Mutation_p.R65*|NARFL_uc021tab.1_Non-coding_Transcript|NARFL_uc010brc.1_Silent_p.S122S|NARFL_uc010uur.1_Silent_p.S122S|NARFL_uc010uuq.1_5'Flank	NM_022493	NP_071938	Q9H6Q4	NARFL_HUMAN	Homo sapiens nuclear prelamin A recognition factor-like (NARFL), mRNA.	167					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				ACAAACTCTCGCTGGCTCTCC	0.647000														185			50		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724650	38724650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724650C>T	uc001wum.1	-	0	925	c.578G>A	c.(577-579)cGc>cAc	p.R193H		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193R(1)|p.R193C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAAGGGCGCGCGATAGCTCAA	0.647000														257			61		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097730	167097730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097730G>A	uc001geb.1	+	4	3378	c.3362G>A	c.(3361-3363)cGg>cAg	p.R1121Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1121					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCCCAGTATCGGAGAAGCACT	0.512000														75			17		0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509778	28509778	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28509778C>T	uc002dqb.2	+	3	3279	c.3246C>T	c.(3244-3246)ggC>ggT	p.G1082G	NPIPL1_uc010vct.2_Intron|APOBR_uc010byg.2_Silent_p.G611G	NM_018690	NP_061160	Q0VD83	APOBR_HUMAN	Homo sapiens apolipoprotein B receptor (APOBR), mRNA.	1073					cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						CGCACCCTGGCATGATGCAGG	0.672000														29			9		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2129279	2129279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2129279C>T	uc002con.3	+	27	3240	c.3134C>T	c.(3133-3135)tCt>tTt	p.S1045F	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.S1045F|TSC2_uc002coo.3_Missense_Mutation_p.S1001F|TSC2_uc010uvv.2_Missense_Mutation_p.S965F|TSC2_uc010uvw.2_Missense_Mutation_p.S953F|TSC2_uc002cop.3_Missense_Mutation_p.S801F	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1045					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCTTCTAGGTCTCCTGTGGGC	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					187			48		0	0	1	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779246	156779246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156779246C>T	uc009wsh.2	-	6	921	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	SH2D2A_uc001fqc.1_Missense_Mutation_p.A223T|SH2D2A_uc001fqd.2_Missense_Mutation_p.A251T|SH2D2A_uc001fqe.2_Missense_Mutation_p.A233T|SH2D2A_uc010phs.1_Missense_Mutation_p.A251T	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	251	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGAGGTTTGGCGGGGATGGGA	0.637000														238			42		0	0	1	0	0
C9orf41	138199	broad.mit.edu	37	9	77613623	77613623	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77613623A>G	uc004ajq.3	-	4	954	c.801T>C	c.(799-801)gcT>gcC	p.A267A	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	267										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						GAATCTGATCAGCTGATCTCC	0.363000														63			11		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112779036	112779036	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112779036G>A	uc002thk.1	+	16	2349	c.2227G>A	c.(2227-2229)Ggc>Agc	p.G743S	MERTK_uc002thl.1_Missense_Mutation_p.G567S	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	743	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGCGGACTTCGGCCTCTCTAA	0.483000														150			25		0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208468	106208468	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106208468G>A	uc001yse.3	-	3	476	c.30C>T	c.(28-30)tgC>tgT	p.C10C	abParts_uc021ser.1_Non-coding_Transcript|DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron					RecName: Full=Ig gamma-1 chain C region;																		CCACCACCACGCATGTGACCT	0.602000														293			33		0	0	1	0	0
FAXC	84553	broad.mit.edu	37	6	99781260	99781260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99781260G>A	uc003ppj.4	-	2	849	c.566C>T	c.(565-567)gCg>gTg	p.A189V	FAXC_uc003ppi.4_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	Homo sapiens chromosome 6 open reading frame 168 (C6orf168), mRNA.	189																	CTTGGTCACCGCTCTGGAGAT	0.473000														125			24		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129417	1129417	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129417C>T	uc021taf.1	+	1	620	c.549C>T	c.(547-549)ggC>ggT	p.G183G	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716000														73			20		0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75044494	75044494	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75044494C>T	uc002ayr.1	+	4	1136	c.1072C>T	c.(1072-1074)Cgg>Tgg	p.R358W		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	358					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)	GCGGCGGCCCCGGCTCTCTGA	0.592000														290			58		0	0	1	0	0
FAM155B	27112	broad.mit.edu	37	X	68725452	68725452	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68725452G>A	uc004dxk.3	+	0	375	c.327G>A	c.(325-327)gcG>gcA	p.A109A		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	109						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						agcccagcgcgcccccAGGCA	0.816000														16			5		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995994	11995994	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995994G>A	uc003wvc.1	-	0	276	c.276C>T	c.(274-276)aaC>aaT	p.N92N	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	92					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCAGGGAAGCGTTCTCGTAGC	0.572000														273			11		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960871	51960871	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960871C>T	uc002pwt.3	-	1	644	c.577G>A	c.(577-579)Ggg>Agg	p.G193R	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	193	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACGGAGGCCCCAATCCAGGAG	0.652000														194			50		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102453024	102453024	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102453024C>T	uc001yks.2	+	7	2626	c.2462C>T	c.(2461-2463)gCg>gTg	p.A821V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	821	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAAGGCATTGCGTTGGTGTGG	0.502000														144			38		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97026333	97026333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97026333C>T	uc002svz.1	+	11	1556	c.1472C>T	c.(1471-1473)aCt>aTt	p.T491I	NCAPH_uc010fhv.1_Missense_Mutation_p.T480I|NCAPH_uc010yum.1_Missense_Mutation_p.T467I|NCAPH_uc010yun.1_Missense_Mutation_p.T355I	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	491					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TAGGCTGCTACTATTCTGACC	0.403000														156			46		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016594	23016594	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016594G>A	uc002wsr.2	+	0	538	c.474G>A	c.(472-474)cgG>cgA	p.R158R		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	158					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.R158Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACCTACCGGCGGCCCAGCG	0.662000														230			55		0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174870	51174870	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51174870G>T	uc021tif.1	-	1	1294	c.972C>A	c.(970-972)gcC>gcA	p.A324A	SALL1_uc021tid.1_Silent_p.A324A|SALL1_uc021tie.1_Silent_p.A421A|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	421					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GCTGGGCCAAGGCAGACAAGG	0.493000														190			45		2.00842e-17	2.41055e-17	1	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20248849	20248849	+	Silent	SNP	G	T	T	rs143904654	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20248849G>T	uc001bct.1	-	2	286	c.228C>A	c.(226-228)ggC>ggA	p.G76G		NM_014589	NP_055404	Q9NZK7	PA2GE_HUMAN	Homo sapiens phospholipase A2, group IIE (PLA2G2E), mRNA.	76					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCTCACAGCCCAGCTTCT	0.587000														80			8		2.74318e-10	3.085e-10	1	1	0
DIP2A	23181	broad.mit.edu	37	21	47931370	47931370	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47931370C>T	uc002zjo.2	+	7	1128	c.945C>T	c.(943-945)agC>agT	p.S315S	DIP2A_uc011afy.1_Silent_p.S251S|DIP2A_uc011afz.1_Silent_p.S311S|DIP2A_uc002zjl.3_Silent_p.S315S|DIP2A_uc002zjm.3_Silent_p.S315S|DIP2A_uc010gql.3_Silent_p.S272S|DIP2A_uc002zjn.3_Silent_p.S315S|DIP2A_uc002zjp.1_Silent_p.S60S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	315					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTGAGGGAAGCGAGACGAGTG	0.532000														36			4		0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151751711	151751711	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151751711G>A	uc009wnb.1	-	4	611	c.429C>T	c.(427-429)ggC>ggT	p.G143G	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G139G|TDRKH_uc001ezc.4_Intron|TDRKH_uc001eza.4_Silent_p.G143G|TDRKH_uc001ezd.4_Silent_p.G143G|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	143	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTGTCTCGCCGCCTCTCCCTA	0.398000														108			15		0	0	1	0	0
GABPA	2551	broad.mit.edu	37	21	27141374	27141374	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27141374T>G	uc002ylx.4	+	9	1346	c.1196T>G	c.(1195-1197)tTt>tGt	p.F399C	GABPA_uc002yly.4_Missense_Mutation_p.F399C	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	399					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						GTGTACAAGTTTGTCTGTGAC	0.363000														213			47		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231305	70231305	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70231305G>A	uc003tvw.4	+	8	2409	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	AUTS2_uc003tvx.4_Silent_p.T558T|AUTS2_uc011keg.2_Silent_p.T3T	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	558										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGCCGACGCCAGCACCTC	0.627000														146			8		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100364868	100364868	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100364868C>T	uc003uwj.3	+	24	5013	c.4848C>T	c.(4846-4848)ggC>ggT	p.G1616G	ZAN_uc003uwk.3_Silent_p.G1616G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.G193G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1616	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCTCAGAGGCTGTAAGGTCA	0.607000														86			16		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858187	160858187	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858187C>T	uc003qti.3	+	6	1259	c.1232C>T	c.(1231-1233)gCg>gTg	p.A411V	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	411						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTCCCCTTTGCGGCAAGCAAT	0.502000														282			59		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3655126	3655126	+	Missense_Mutation	SNP	C	T	T	rs149540181	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3655126C>T	uc002fwo.4	-	14	1810	c.1711G>A	c.(1711-1713)Ggg>Agg	p.G571R		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	571					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTGGTGAACCCGGGGTGCCCA	0.567000														165			26		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914912	236914912	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236914912G>A	uc001hyf.2	+	14	2003	c.1799G>A	c.(1798-1800)aGc>aAc	p.S600N	ACTN2_uc001hyg.2_Missense_Mutation_p.S392N|ACTN2_uc009xgi.1_Missense_Mutation_p.S600N|ACTN2_uc010pxu.1_Missense_Mutation_p.S289N	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	600					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AACCCGTACAGCACTGTCACC	0.582000														133			29		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995125	55995125	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995125G>A	uc021vbv.1	+	0	2553	c.2553G>A	c.(2551-2553)caG>caA	p.Q851Q	ZNF628_uc002qld.2_Silent_p.Q851Q|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	851	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCACGGTCCAGCTCCAGCCAG	0.657000														115			28		0	0	1	0	0
IRF2BP2	359948	broad.mit.edu	37	1	234743289	234743289	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234743289C>A	uc001hwg.3	-	1	1389	c.1358G>T	c.(1357-1359)aGg>aTg	p.R453M	IRF2BP2_uc009xfw.3_Missense_Mutation_p.R63M|IRF2BP2_uc001hwf.3_Missense_Mutation_p.R437M	NM_182972	NP_892017	Q7Z5L9	I2BP2_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 2 (IRF2BP2), transcript variant 1, mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11	Ovarian(103;0.0303)	all_cancers(173;0.0236)|Prostate(94;0.0115)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)|Epithelial(3;6.2e-05)			GTTGCTATTCCTCCTGGTAGT	0.587000														384			76		9.96456e-45	1.26941e-44	1	1	0
OR2H2	7932	broad.mit.edu	37	6	29556001	29556001	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556001G>A	uc003nmr.1	+	0	319	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	94					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						CAGCTTCCTGGACTGCTCTGT	0.542000														164			45		0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202705505	202705505	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202705505G>A	uc009xag.3	-	21	3324	c.3208C>T	c.(3208-3210)Cca>Tca	p.P1070S	KDM5B_uc001gyf.3_Missense_Mutation_p.P1034S|KDM5B_uc001gyg.1_Missense_Mutation_p.P876S	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1034					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTAACACTGGCACACGTCCT	0.413000														102			5		0	0	1	0	0
MYBPC3	4607	broad.mit.edu	37	11	47371447	47371447	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47371447C>T	uc021qis.1	-	4	587	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	MYBPC3_uc021qir.1_5'UTR	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	178	Ig-like C2-type 1.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GCGCCGGCCACGCGGGCTGAG	0.672000														34			7		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160676380	160676380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160676380C>T	uc002ubb.4	-	28	4084	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	LY75-CD302_uc010fos.3_Missense_Mutation_p.R1337K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.R1337K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1337	C-type lectin 8.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										TCTTCCTGCTCTCCAATGTGT	0.353000														68			21		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995861	144995861	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995861G>A	uc003zaf.1	-	31	8709	c.8539C>T	c.(8539-8541)Ctg>Ttg	p.L2847L	PLEC_uc003zab.1_Silent_p.L2710L|PLEC_uc003zac.1_Silent_p.L2714L|PLEC_uc003zad.2_Silent_p.L2710L|PLEC_uc003zae.1_Silent_p.L2678L|PLEC_uc003zag.1_Silent_p.L2688L|PLEC_uc003zah.2_Silent_p.L2696L|PLEC_uc003zaj.2_Silent_p.L2737L	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2847	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TAAACACTCAGCTTCTCATTG	0.667000														166			34		0	0	1	0	0
GBX2	2637	broad.mit.edu	37	2	237076102	237076102	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237076102C>A	uc002vvw.1	-	0	551	c.513G>T	c.(511-513)caG>caT	p.Q171H	GBX2_uc010zng.1_Missense_Mutation_p.Q161H	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	171				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CGAGCGAAGCCTGCACCGTCT	0.756000														65			13		2.62699e-14	3.08368e-14	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141059831	141059831	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141059831A>G	uc003llm.3	-	1	301	c.223T>C	c.(223-225)Tca>Cca	p.S75P	ARAP3_uc003lln.3_5'UTR|ARAP3_uc003llo.1_Missense_Mutation_p.S75P	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	75					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCACTATCTGATTTGGGATCC	0.632000														256			64		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35237530	35237530	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35237530G>T	uc002yta.1	+	31	4234	c.3966G>T	c.(3964-3966)caG>caT	p.Q1322H	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.Q1317H|ITSN1_uc002ytj.2_Missense_Mutation_p.Q1317H|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1322	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGAGCGCACAGCTGCCGCACA	0.602000														46			9		1.12685e-05	1.18529e-05	1	1	0
OR14C36	127066	broad.mit.edu	37	1	248512485	248512485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248512485C>T	uc010pzl.2	+	0	409	c.409C>T	c.(409-411)Cga>Tga	p.R137*		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R137Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CGTGAACTCTCGAATCTGCAT	0.507000														100			26		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88386453	88386453	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88386453G>A	uc001pcq.3	-	2	1230	c.1030C>T	c.(1030-1032)Ctc>Ttc	p.L344F	GRM5_uc009yvm.3_Missense_Mutation_p.L344F	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	344					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGGCCGGAGCTTCAGATAA	0.458000														122			27		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416252	54416252	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54416252C>T	uc003jpo.2	-	10	1518	c.1341_splice	c.e10+1	p.Q447_splice	CDC20B_uc003jpn.2_Splice_Site_p.Q447_splice|CDC20B_uc010ivu.2_Intron	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	447										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GAGATATTAACCTGTGAGTTT	0.448000														137			31		0	0	1	0	0
BTF3P11	690	broad.mit.edu	37	13	77502774	77502774	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77502774C>T	uc001vkb.4	+	0		c.190C>T								Homo sapiens basic transcription factor 3 pseudogene 11 (BTF3P11), non-coding RNA.																		CATGCTGAGACAAAGCAGCTG	0.453000														82			16		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15233511	15233511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15233511C>T	uc002nam.3	-	5	830	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	237						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCAGGAGACCACTCGGCCC	0.597000														117			29		0	0	1	0	0
S100A11	6282	broad.mit.edu	37	1	152005293	152005293	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152005293T>C	uc001ezn.3	-	2	283	c.163A>G	c.(163-165)Aag>Gag	p.K55E	AC2_uc001ezm.1_Intron	NM_005620	NP_005611	P31949	S10AB_HUMAN	Homo sapiens S100 calcium binding protein A11 (S100A11), mRNA.	55	EF-hand 2.				negative regulation of DNA replication|negative regulation of cell proliferation|signal transduction	cytoplasm|nucleus|ruffle	S100 beta binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity			large_intestine(1)|lung(1)|prostate(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CCAGGGTCCTTCTGGTTCTGC	0.403000														106			12		0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103444469	103444469	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103444469G>A	uc001ymi.1	-	8	1446	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	405	AGC-kinase C-terminal.				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)		ATACCTTTCCGTTGTGAATGT	0.453000														76			16		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891297	155891297	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155891297C>A	uc001fmi.1	-	9	1159	c.1135G>T	c.(1135-1137)Gga>Tga	p.G379*	KIAA0907_uc001fmj.1_Nonsense_Mutation_p.G379*|KIAA0907_uc009wrl.1_Non-coding_Transcript|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.R345L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	379	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGGTACTCCGTAGGGAGGT	0.517000														127			25		3.7963e-18	4.57459e-18	1	1	0
GPS2	2874	broad.mit.edu	37	17	7226812	7226812	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7226812C>T	uc002gga.1	-	13	2416	c.2409G>A	c.(2407-2409)tgG>tgA	p.W803*	GPS2_uc002ggb.1_Nonsense_Mutation_p.W803*|GPS2_uc002ggc.1_Nonsense_Mutation_p.W149*	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity	p.W803F(2)		breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ACCTCAGCATCCATGTGTCAT	0.572000														80			21		0	0	1	0	0
FBXL3	26224	broad.mit.edu	37	13	77595939	77595939	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77595939C>A	uc001vkd.3	-	1	428	c.57G>T	c.(55-57)gaG>gaT	p.E19D		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	19					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		TCTTGGATTTCTCTGCAGTTC	0.383000														160			36		4.14481e-20	5.0508e-20	1	1	0
TFIP11	24144	broad.mit.edu	37	22	26888122	26888122	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26888122C>T	uc003acr.2	-	13	2745	c.2371G>A	c.(2371-2373)Gtc>Atc	p.V791I	TFIP11_uc003acq.2_Missense_Mutation_p.V150I|TFIP11_uc003acs.2_Missense_Mutation_p.V791I|TFIP11_uc003act.2_Missense_Mutation_p.V791I	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	791					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity	p.P790P(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TTCCCAATGACGGGCATGAAG	0.562000														117			28		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19702706	19702706	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19702706C>T	uc002dgn.2	+	28	2874	c.2559C>T	c.(2557-2559)gaC>gaT	p.D853D	C16orf62_uc002dgo.2_Silent_p.D849D|C16orf62_uc002dgp.2_Silent_p.D602D	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	853						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ACGGGGGAGACTCCAAGTTCC	0.577000														79			18		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060107	74060107	+	Missense_Mutation	SNP	G	A	A	rs144739272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060107G>A	uc002jqk.1	-	3	546	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SRP68_uc010wsu.1_Missense_Mutation_p.R70C|SRP68_uc002jql.1_Missense_Mutation_p.R133C	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	171					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TCACACAAGCGTTCCAATTCC	0.468000														170			33		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247582145	247582145	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247582145C>A	uc001icr.3	+	2	187	c.49C>A	c.(49-51)Ctg>Atg	p.L17M	NLRP3_uc001ics.3_Missense_Mutation_p.L17M|NLRP3_uc001icu.3_Missense_Mutation_p.L17M|NLRP3_uc001icw.3_Missense_Mutation_p.L17M|NLRP3_uc001icv.3_Missense_Mutation_p.L17M|NLRP3_uc010pyw.2_Missense_Mutation_p.L15M|NLRP3_uc001ict.1_Missense_Mutation_p.L15M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	17	DAPIN.				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)			CCTGGAGGACCTGGAGGATGT	0.552000														88			19		2.94398e-08	3.21697e-08	1	1	0
DSEL	92126	broad.mit.edu	37	18	65178934	65178934	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:65178934C>A	uc002lke.1	-	1	4166	c.2942G>T	c.(2941-2943)aGa>aTa	p.R981I	DSEL_uc021ulg.1_Missense_Mutation_p.R981I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	971						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CATTTGACTTCTTTGTTCTGG	0.398000														106			10		1.76689e-08	1.93511e-08	1	1	0
SYT5	6861	broad.mit.edu	37	19	55689710	55689710	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55689710C>T	uc002qjm.1	-	1	1166	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.V36M|SYT5_uc002qjo.1_Missense_Mutation_p.V36M	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	36					energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGACCAGCACGATGGTGGCC	0.617000														31			4		0	0	1	0	0
BAZ1A	11177	broad.mit.edu	37	14	35245537	35245537	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35245537G>A	uc001wsk.3	-	17	2989	c.2421C>T	c.(2419-2421)cgC>cgT	p.R807R	BAZ1A_uc001wsl.3_Silent_p.R775R	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	807	Interaction with SMARCA5.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		ACATGCGGTCGCGACCCAAGG	0.418000														148			38		0	0	1	0	0
MEX3B	84206	broad.mit.edu	37	15	82335561	82335561	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82335561G>A	uc002bgq.1	-	1	1965	c.1650C>T	c.(1648-1650)agC>agT	p.S550S		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	550					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						ACTCGGGCTCGCTCTTCTCAC	0.627000														213			11		0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519953	52519953	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52519953G>A	uc002pyj.3	-	4	1300	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R3C	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ATTAGATAGCGCTTCATTGTA	0.408000														160			21		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051266	73051266	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73051266G>A	uc001jro.3	+	9	1823	c.1372G>A	c.(1372-1374)Gcc>Acc	p.A458T	UNC5B_uc001jrp.3_Missense_Mutation_p.A447T	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	458					apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACCCGTGTATGCCCTGCAGGA	0.617000														192			53		0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110864531	110864531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110864531C>T	uc003hzy.4	+	2	901	c.449C>T	c.(448-450)tCc>tTc	p.S150F	EGF_uc011cfu.2_Missense_Mutation_p.S150F|EGF_uc011cfv.2_Missense_Mutation_p.S150F	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	150					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GGAAATAATTCCCACATTCTT	0.303000														51			17		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48290601	48290601	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48290601A>G	uc002efi.1	+	2	638	c.549A>G	c.(547-549)ttA>ttG	p.L183L	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Intron|LONP2_uc002efj.1_Intron	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	183	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGGAAGCTTTACCAGACATCT	0.403000														101			6		0	0	1	0	0
PPIL1	51645	broad.mit.edu	37	6	36824411	36824411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36824411G>A	uc003omu.2	-	2	483	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	77	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						GTTTGCCATAGATAGATGCAC	0.458000														69			11		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109681389	109681389	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109681389C>T	uc003hzc.3	-	1	311	c.130G>A	c.(130-132)Gag>Aag	p.E44K	AGXT2L1_uc010imc.3_Missense_Mutation_p.E44K|AGXT2L1_uc011cfm.2_Missense_Mutation_p.E4K|AGXT2L1_uc011cfn.2_Intron|AGXT2L1_uc011cfo.2_Intron	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	44					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		TCACCGTTCTCATCAAACATG	0.433000														154			41		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44336397	44336397	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44336397G>A	uc010xcy.1	-	0	643	c.75C>T	c.(73-75)gcC>gcT	p.A25A	ST8SIA5_uc002lcj.1_Silent_p.A25A|ST8SIA5_uc010xcz.1_Silent_p.A25A|ST8SIA5_uc010dno.1_Silent_p.A25A	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	25					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAAGGCAAAGGCGCAGATGA	0.612000														143			38		0	0	1	0	0
ATP6V1F	9296	broad.mit.edu	37	7	128505495	128505495	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128505495C>T	uc022all.1	+	2	409	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	KCP_uc003vob.1_Intron|ATP6V1F_uc003voc.2_Missense_Mutation_p.R75W|LOC100130705_uc022alm.1_5'Flank	NM_001198909	NP_001185838	Q16864	VATF_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F (ATP6V1F), transcript variant 2, mRNA.	75					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|membrane fraction|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATPase activity, uncoupled|hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding|proton-transporting ATPase activity, rotational mechanism			lung(1)|ovary(1)|prostate(1)	3						AGAGATGGTGCGGCATGCCCT	0.587000														88			19		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90398904	90398904	+	Missense_Mutation	SNP	C	T	T	rs139352797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90398904C>T	uc021opq.1	+	0	277	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W	LRRC8D_uc001dnm.3_Missense_Mutation_p.R93W|LRRC8D_uc001dnn.3_Missense_Mutation_p.R93W	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	93						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CCAAGATGGGCGGACAACAAA	0.493000														61			10		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734418	37734418	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734418G>A	uc002oft.1	+	7	1860	c.1280G>A	c.(1279-1281)tGt>tAt	p.C427Y	ZNF383_uc002ofs.1_Missense_Mutation_p.C362Y|ZNF383_uc002ofu.1_Missense_Mutation_p.C427Y	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	427					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAATGAATGTGGAAAGGCC	0.378000														78			19		0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91090729	91090729	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91090729C>T	uc004efk.2	+	0	1071	c.226C>T	c.(226-228)Cga>Tga	p.R76*	PCDH11X_uc004efl.2_Nonsense_Mutation_p.R76*|PCDH11X_uc010nmv.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efm.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efn.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efo.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efh.2_Nonsense_Mutation_p.R76*|PCDH11X_uc004efj.1_Nonsense_Mutation_p.R76*	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCACTGATTCGAATTGAAGA	0.443000														170			58		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29809753	29809753	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29809753C>T	uc002dts.3	+	2	348	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Nonsense_Mutation_p.Q41*|KIF22_uc010vdw.1_Nonsense_Mutation_p.Q41*	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	109	Kinesin-motor.				DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGTTCAGTGCAGCCCATCCT	0.517000														162			26		0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25273753	25273753	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25273753G>A	uc001isg.1	-	4	841	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	ENKUR_uc001ish.1_Missense_Mutation_p.R164C	NM_145010	NP_659447	Q8TC29	ENKUR_HUMAN	Homo sapiens enkurin, TRPC channel interacting protein (ENKUR), mRNA.	226						cilium|flagellum	SH3 domain binding|calmodulin binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CTCTGCTTGCGGATCTTCTTT	0.388000														66			16		0	0	1	0	0
EIF4ENIF1	56478	broad.mit.edu	37	22	31835923	31835923	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31835923G>A	uc003akz.2	-	18	3099	c.2901C>T	c.(2899-2901)ccC>ccT	p.P967P	EIF4ENIF1_uc003akx.2_Silent_p.P622P|EIF4ENIF1_uc003aky.2_Silent_p.P647P|EIF4ENIF1_uc003ala.2_Silent_p.P967P|EIF4ENIF1_uc003alb.2_Silent_p.P793P|EIF4ENIF1_uc003akw.2_Silent_p.P457P	NM_001164501	NP_062817	Q9NRA8	4ET_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA.	967						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGAGGGCAGGGGTTGCTGTA	0.592000														165			28		0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94184895	94184895	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94184895T>C	uc003uni.4	+	17	2446	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A	CASD1_uc003unj.4_Missense_Mutation_p.V740A	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	740						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AACATCATTGTCAGCACTTTC	0.388000														69			17		0	0	1	0	0
TPRA1	131601	broad.mit.edu	37	3	127295733	127295733	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127295733G>T	uc003ejn.2	-	4	682	c.349C>A	c.(349-351)Ctg>Atg	p.L117M	TPRA1_uc003ejl.2_Missense_Mutation_p.L117M|TPRA1_uc010hsk.2_Missense_Mutation_p.L117M|TPRA1_uc003ejm.3_Non-coding_Transcript	NM_001136053	NP_057456	Q86W33	TPRA1_HUMAN	Homo sapiens transmembrane protein, adipocyte asscociated 1 (TPRA1), transcript variant 1, mRNA.	117					aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						ATCTCCCACAGGATCTGCACG	0.672000														106			28		2.44723e-14	2.87423e-14	1	1	0
TMCC2	9911	broad.mit.edu	37	1	205238374	205238374	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205238374C>T	uc021pia.1	+	2	1699	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	TMCC2_uc010prf.2_Silent_p.A270A|TMCC2_uc001hca.3_Silent_p.A123A|TMCC2_uc001hcb.2_Silent_p.A108A|TMCC2_uc001hcc.2_5'UTR|TMCC2_uc001hcd.3_Silent_p.A115A	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	348						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGACCATCGCCCAGCTGCACA	0.597000														94			32		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77675851	77675851	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77675851C>T	uc011cbx.2	+	6	5168	c.4215C>T	c.(4213-4215)ggC>ggT	p.G1405G	SHROOM3_uc003hkg.3_Silent_p.G1183G	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	1405					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTGTGAGGGCGATGGCCCAG	0.637000														72			11		0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51913785	51913785	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51913785G>A	uc001csq.1	-	8	676	c.584C>T	c.(583-585)gCa>gTa	p.A195V	EPS15_uc009vyz.1_Missense_Mutation_p.A195V	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	195	EF-hand 1.|EH 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	SH3 domain binding|calcium ion binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TTTCTCCAGTGCACAGTATAC	0.428000			T	MLL	ALL									138			16		0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21771700	21771700	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21771700C>T	uc001ber.3	+	1	471	c.121C>T	c.(121-123)Cga>Tga	p.R41*	NBPF3_uc001bes.3_5'UTR|NBPF3_uc009vqb.3_Nonsense_Mutation_p.R41*|NBPF3_uc010odm.2_Nonsense_Mutation_p.R41*	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	41						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCAAGAGCTGCGAGATCCAAC	0.537000														82			6		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998727	27998727	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:27998727A>G	uc004dbx.1	-	0	840	c.725T>C	c.(724-726)gTc>gCc	p.V242A		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	242								p.V242G(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGCCTGGATGACATTAATATC	0.488000														89			22		0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834238	101834238	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101834238T>C	uc003knn.3	-	0	483	c.311A>G	c.(310-312)aAc>aGc	p.N104S	SLCO6A1_uc003kno.3_Missense_Mutation_p.N104S|SLCO6A1_uc003knp.3_Missense_Mutation_p.N104S|SLCO6A1_uc003knq.3_Missense_Mutation_p.N104S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	104	Cys-rich.					integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GCAGCGAATGTTATTGCAACA	0.537000														175			38		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32164146	32164146	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32164146G>A	uc003obb.3	-	28	5392	c.5253C>T	c.(5251-5253)cgC>cgT	p.R1751R	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Intron|NOTCH4_uc003oba.3_Silent_p.R411R|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Silent_p.R160R	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1751					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAGAAGCGAGCGGGCGGCTC	0.622000														322			61		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149519453	149519453	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149519453A>G	uc010zbt.2	+	4	796	c.769A>G	c.(769-771)Aca>Gca	p.T257A		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	257					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AAGAGAGAAAACAAAACGAGA	0.343000														18			3		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130992362	130992362	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130992362A>C	uc003eny.3	+	16	1988	c.1662A>C	c.(1660-1662)ccA>ccC	p.P554P	NEK11_uc003eoa.3_Intron|NEK11_uc003enz.3_Silent_p.P372P|NEK11_uc011blk.2_Silent_p.P370P|NEK11_uc011bll.2_Silent_p.P449P	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	554					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ACATGTCCCCAGGACCACCAA	0.483000														83			8		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29963698	29963698	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29963698C>A	uc011kaa.2	-	7	1229	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SCRN1_uc011jzy.2_Nonsense_Mutation_p.E306*|SCRN1_uc003tak.3_Nonsense_Mutation_p.E374*|SCRN1_uc011jzz.2_Nonsense_Mutation_p.E374*|SCRN1_uc011jzw.2_Nonsense_Mutation_p.E241*|SCRN1_uc010kvp.3_Nonsense_Mutation_p.E374*|SCRN1_uc011jzx.2_Nonsense_Mutation_p.E197*	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	374					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TTCTCCAGCTCCAGCATGGTG	0.552000														136			35		1.06647e-15	1.26527e-15	1	1	0
PRTG	283659	broad.mit.edu	37	15	55964735	55964735	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55964735C>T	uc002adg.3	-	10	1997	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	PRTG_uc002adh.3_Missense_Mutation_p.G152D	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	650	Fibronectin type-III 3.				multicellular organismal development	integral to membrane		p.Q649Q(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CAGCTTGTAGCCCTGAATAGC	0.498000														91			26		0	0	1	0	0
ART4	420	broad.mit.edu	37	12	14995976	14995976	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14995976G>A	uc001rcl.1	-	0	438	c.72C>T	c.(70-72)atC>atT	p.I24I	ART4_uc009zid.1_Non-coding_Transcript|ART4_uc009zie.1_Non-coding_Transcript|ART4_uc001rcm.1_Silent_p.I24I	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	24					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						CAAGGAGCCAGATTCTCATCG	0.522000														68			17		0	0	1	0	0
BAMBI	25805	broad.mit.edu	37	10	28970438	28970438	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28970438C>T	uc001iuj.1	+	1	731	c.328C>T	c.(328-330)Cac>Tac	p.H110Y		NM_012342	NP_036474	Q13145	BAMBI_HUMAN	Homo sapiens BMP and activin membrane-bound inhibitor homolog (Xenopus laevis) (BAMBI), mRNA.	110					cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape	cytoplasm|integral to membrane|plasma membrane	frizzled binding|type II transforming growth factor beta receptor binding	p.H110Y(2)		central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						CAGAGGGCTGCACGATGTTCT	0.532000														167			28		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25570308	25570308	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25570308C>T	uc002kwg.2	-	9	1810	c.1351G>A	c.(1351-1353)Gac>Aac	p.D451N	CDH2_uc010xbn.1_Missense_Mutation_p.D420N	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	451	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTTTCAAAGTCGATTGGCTGG	0.393000														79			16		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57954768	57954768	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57954768G>A	uc002qoq.2	+	2	506	c.252G>A	c.(250-252)caG>caA	p.Q84Q		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TGAAGGCCCAGCCCTGCAAGA	0.522000														80			24		0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268778	57268778	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57268778G>T	uc001xcq.3	-	4	843	c.569C>A	c.(568-570)gCt>gAt	p.A190D	OTX2_uc001xcp.3_Missense_Mutation_p.A182D|OTX2_uc021rtm.1_Missense_Mutation_p.A12D|OTX2_uc010aou.3_Missense_Mutation_p.A182D	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	182					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATAACCTGAAGCCTGAGTATA	0.522000														107			29		4.22769e-11	4.79992e-11	1	1	0
COMP	1311	broad.mit.edu	37	19	18893930	18893930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18893930G>A	uc002nke.3	-	17	2197	c.2161C>T	c.(2161-2163)Cgc>Tgc	p.R721C	COMP_uc002nkd.3_Missense_Mutation_p.R688C|COMP_uc010xqj.2_Missense_Mutation_p.R668C	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	721	Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACCCCCAGGCGGCCACCCCGC	0.652000														115			23		0	0	1	0	0
TMEM168	64418	broad.mit.edu	37	7	112423788	112423788	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112423788G>A	uc003vgn.3	-	1	1485	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	TMEM168_uc010lju.3_Missense_Mutation_p.L365F|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	365						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GCTGTTGCAAGAAGACTAAAG	0.413000														137			26		0	0	1	0	0
C11orf84	144097	broad.mit.edu	37	11	63585407	63585407	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63585407C>T	uc001nxt.3	+	1	494	c.258C>T	c.(256-258)agC>agT	p.S86S		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	86										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CAGGAGGCAGCGGGCGGGCAC	0.667000														97			18		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579766	58579766	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58579766C>A	uc002qrg.3	+	3	1989	c.1986C>A	c.(1984-1986)gaC>gaA	p.D662E	ZNF135_uc002qre.3_Missense_Mutation_p.D638E|ZNF135_uc002qrf.3_Missense_Mutation_p.D596E|ZNF135_uc010yhq.2_Missense_Mutation_p.D650E|ZNF135_uc010yhr.2_Missense_Mutation_p.D459E|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATGCAGGGACTGTGGAAAGG	0.537000														128			31		7.26314e-15	8.55724e-15	1	1	0
OR1D4	653166	broad.mit.edu	37	17	3144044	3144044	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3144044G>A	uc002fvf.3	+	0	75	c.75G>A	c.(73-75)caG>caA	p.Q25Q						Homo sapiens olfactory receptor, family 1, subfamily D, member 4 (gene/pseudogene) (OR1D4), non-coding RNA.																		AGCAGCAGCAGATCCTGTTTT	0.512000														136			29		0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27643438	27643438	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27643438G>T	uc001uqy.3	-	8	1352	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	365					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GAGACTGATAGAAAAGGATGT	0.398000														116			7		0.00307968	0.00313564	1	1	0
LOC643733	643733	broad.mit.edu	37	11	104779707	104779707	+	RNA	SNP	C	T	T	rs114885915	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104779707C>T	uc021qpn.1	-	1		c.92G>A			LOC643733_uc021qpo.1_Non-coding_Transcript|LOC643733_uc001phz.3_Non-coding_Transcript					Homo sapiens caspase 4, apoptosis-related cysteine peptidase pseudogene (LOC643733), transcript variant 1, non-coding RNA.																		CAGGCGTATGCGGTCCTTTCT	0.433000														53			14		0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101878	149101878	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149101878A>C	uc004fdy.3	-	3	731	c.215T>G	c.(214-216)cTc>cGc	p.L72R	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	Homo sapiens chromosome X open reading frame 40B (CXorf40B), mRNA.	72										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CCCTTTCCTGAGCAAGGCCTG	0.562000														363			25		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808726	98808726	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98808726T>G	uc001kmw.2	-	13	1703	c.1451A>C	c.(1450-1452)aAg>aCg	p.K484T	SLIT1_uc009xvh.1_Missense_Mutation_p.K494T	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	484	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCACCGGAACTTCTTGCTCTT	0.652000														254			40		0	0	1	0	0
CCDC163P	126661	broad.mit.edu	37	1	45960780	45960780	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45960780C>A	uc001cnw.3	-	4	859	c.389G>T	c.(388-390)aGa>aTa	p.R130I	CCDC163P_uc001cnt.3_Non-coding_Transcript|CCDC163P_uc001cnu.3_Non-coding_Transcript|CCDC163P_uc001cnv.3_Non-coding_Transcript|CCDC163P_uc009vxt.2_3'UTR|CCDC163P_uc009vxu.2_Non-coding_Transcript					Homo sapiens coiled-coil domain containing 163, pseudogene (CCDC163P), transcript variant 3, non-coding RNA.											cervix(1)|endometrium(1)	2						GCTTAAGACTCTGGGCATGGA	0.478000														102			13		4.93089e-13	5.72934e-13	1	1	0
SOX13	9580	broad.mit.edu	37	1	204091060	204091060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204091060C>T	uc001ham.3	+	7	1403	c.808C>T	c.(808-810)Cct>Tct	p.P270S	SOX13_uc010pqp.2_Missense_Mutation_p.P269S|SOX13_uc010pqq.2_Missense_Mutation_p.P137S	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	270	Pro-rich.			P -> L (in Ref. 4; AAD50120).	anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCACAGCCCCCCTGCCCCAGT	0.622000														59			7		0	0	1	0	0
IRGQ	126298	broad.mit.edu	37	19	44097296	44097296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44097296C>T	uc002oww.2	-	1	872	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_uc010eiv.2_Missense_Mutation_p.A252T	NM_001007561	NP_001007562	Q8WZA9	IRGQ_HUMAN	Homo sapiens immunity-related GTPase family, Q (IRGQ), mRNA.	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692000														133			26		0	0	1	0	0
ZNF80	7634	broad.mit.edu	37	3	113955909	113955909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113955909G>A	uc010hqo.3	-	0	517	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	5						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R5>?(2)		NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				AACCCATCGCGTTTAGGGCTC	0.542000														151			43		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3916785	3916785	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3916785G>A	uc002fxe.3	-	51	8601	c.8537C>T	c.(8536-8538)gCc>gTc	p.A2846V	ZZEF1_uc002fxg.1_Missense_Mutation_p.A167V	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2846							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TAAGTGGATGGCTTTTAATCG	0.552000														117			28		0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254618	1254618	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1254618T>C	uc003jcb.1	-	14	3218	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V	TERT_uc003jbz.1_Missense_Mutation_p.M250V|TERT_uc003jcc.1_Missense_Mutation_p.M991V|TERT_uc003jca.1_Missense_Mutation_p.M1042V|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	1054	CTE.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCAGCGACATCCCTGGGGGA	0.687000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					60			20		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85973961	85973961	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85973961G>A	uc001kcv.3	+	16	2269	c.2164G>A	c.(2164-2166)Gcc>Acc	p.A722T	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Missense_Mutation_p.A426T|CDHR1_uc001kcx.3_Missense_Mutation_p.A36T	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	722					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CATCTCCACCGCCACCTTCTG	0.637000														250			54		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882444	167882444	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167882444C>A	uc003lzu.3	+	18	2835	c.2742C>A	c.(2740-2742)tcC>tcA	p.S914S	WWC1_uc003lzv.3_Silent_p.S914S|WWC1_uc011den.2_Silent_p.S914S|WWC1_uc003lzw.3_Silent_p.S713S|WWC1_uc010jjf.1_Silent_p.S186S	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	914	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCACCCCGTCCCAGGGGCCAT	0.632000														314			81		2.40982e-25	3.00391e-25	1	1	0
HOXC13	3229	broad.mit.edu	37	12	54333171	54333171	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54333171C>T	uc001sei.3	+	0	596	c.481C>T	c.(481-483)Ccc>Tcc	p.P161S		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	161						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GGGCGCCCTGCCCGGTGACGA	0.657000			T	NUP98	AML									42			17		0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241808766	241808766	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241808766C>T	uc002waa.4	+	1	466	c.345C>T	c.(343-345)atC>atT	p.I115I	AGXT_uc010zoi.1_Silent_p.I115I	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	115					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCGTGGACATCGGGGAGCGCA	0.657000														169			21		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198924	52198924	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198924T>G	uc002xwq.4	-	0	784	c.442A>C	c.(442-444)Aga>Cga	p.R148R	ZNF217_uc010gij.1_Silent_p.R140R	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	148					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TTGTGTGTTCTCATGTGGATC	0.408000														287			58		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210857251	210857251	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210857251C>T	uc001hib.2	-	10	2512	c.2342G>A	c.(2341-2343)aGc>aAc	p.S781N	KCNH1_uc001hic.2_Missense_Mutation_p.S754N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	781					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CTTCACGAGGCTGTGGTTGGC	0.632000														130			61		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799323	45799323	+	Missense_Mutation	SNP	C	T	T	rs116633831	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799323C>T	uc001jcc.1	-	3	857	c.548G>A	c.(547-549)cGc>cAc	p.R183H	OR13A1_uc001jcd.1_Missense_Mutation_p.R179H|OR13A1_uc021ppq.1_Missense_Mutation_p.R183H	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						GAAATCCAAGCGCAGCATCAG	0.592000														153			36		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371104	48371104	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48371104G>A	uc001rqu.3	-	46	3454	c.3273_splice	c.e46+1	p.A1091_splice	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Splice_Site|COL2A1_uc001rqv.3_Splice_Site_p.A1022_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1091	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GATACTTACAGCTTCTCCTCT	0.632000														172			7		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811983	56811983	+	Missense_Mutation	SNP	C	T	T	rs145585280		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56811983C>T	uc001slf.2	-	26	3557	c.3389G>A	c.(3388-3390)cGa>cAa	p.R1130Q		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1130					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GGCTTGTGCTCGGTGCTCTTT	0.552000														410			82		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25258585	25258585	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25258585A>C	uc002dod.4	-	4	1339	c.932T>G	c.(931-933)gTt>gGt	p.V311G	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.V107G|ZKSCAN2_uc002doe.2_Missense_Mutation_p.V311G	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	311					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		AATAGCATGAACTGACTTTTC	0.473000														119			34		0	0	1	0	0
HEATR7A	727957	broad.mit.edu	37	8	145235357	145235357	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145235357G>A	uc003zbk.4	+	6	730	c.493G>A	c.(493-495)Gtc>Atc	p.V165I	HEATR7A_uc003zbg.2_Missense_Mutation_p.V165I|HEATR7A_uc003zbi.4_Missense_Mutation_p.V165I|HEATR7A_uc003zbh.4_Missense_Mutation_p.V165I|HEATR7A_uc011lla.1_Missense_Mutation_p.V165I|HEATR7A_uc010mft.3_Missense_Mutation_p.V165I	NM_032450	NP_115826	Q8NDA8	HTR7A_HUMAN	Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA.	165							binding	p.V165I(2)		endometrium(2)|kidney(2)|lung(3)|skin(1)	8						CCTGCCATCCGTCCTGAGCTC	0.677000														128			24		0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248580	20248580	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20248580C>A	uc010tku.2	+	0	99	c.99C>A	c.(97-99)tcC>tcA	p.S33S		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S33Y(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATTTCTATCCTTCTATTTGT	0.413000														409			66		3.95532e-38	5.02375e-38	1	1	0
SCN5A	6331	broad.mit.edu	37	3	38616790	38616790	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38616790G>T	uc021wvo.1	-	18	3716	c.3664C>A	c.(3664-3666)Ctg>Atg	p.L1222M	SCN5A_uc021wvk.1_Missense_Mutation_p.L1221M|SCN5A_uc021wvl.1_Missense_Mutation_p.L1168M|SCN5A_uc021wvm.1_Missense_Mutation_p.L1222M|SCN5A_uc021wvn.1_Missense_Mutation_p.L1221M|SCN5A_uc021wvp.1_Missense_Mutation_p.L1222M|SCN5A_uc021wvq.1_Missense_Mutation_p.L1221M|SCN5A_uc021wvr.1_Missense_Mutation_p.L1222M|SCN5A_uc021wvs.1_Missense_Mutation_p.L1222M|SCN5A_uc021wvt.1_Missense_Mutation_p.L1221M|SCN5A_uc021wvu.1_Missense_Mutation_p.L1168M|SCN5A_uc021wvv.1_Missense_Mutation_p.L1222M|SCN5A_uc021wvj.1_Missense_Mutation_p.L1034M|SCN5A_uc021wvi.1_Missense_Mutation_p.L1088M|SCN5A_uc021wvw.1_Missense_Mutation_p.L832M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1222					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAGGGTACCAGCGCTCCACTG	0.587000														37			7		7.48243e-07	8.00842e-07	1	1	0
CPSF4	10898	broad.mit.edu	37	7	99047943	99047943	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99047943G>A	uc003uqj.3	+	3	495	c.352G>A	c.(352-354)Gag>Aag	p.E118K	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Missense_Mutation_p.E118K|CPSF4_uc003uqk.3_Missense_Mutation_p.E118K|CPSF4_uc011kix.2_Missense_Mutation_p.E65K	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	118					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CATCGACCCCGAGTCCAAGAT	0.622000														89			18		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131222946	131222946	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131222946G>A	uc004bvc.3	+	3	458	c.372_splice	c.e3+1	p.Q124_splice	ODF2_uc011maz.2_Intron|ODF2_uc011mba.2_Splice_Site|ODF2_uc010myb.3_Splice_Site_p.Q36_splice|ODF2_uc011mbc.2_Splice_Site_p.Q36_splice|ODF2_uc022boj.1_Intron|ODF2_uc004bva.3_Intron|ODF2_uc004bvb.3_Splice_Site_p.Q36_splice|ODF2_uc011mbd.2_Intron|ODF2_uc011mbe.2_Splice_Site_p.Q36_splice|ODF2_uc010myc.3_Intron|ODF2_uc011mbf.2_Intron|ODF2_uc004bvd.4_Intron|ODF2_uc004bve.3_Intron	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	41					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CAGCAGCCAGGTAGGAGCATG	0.557000														58			20		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7606952	7606952	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7606952A>G	uc010xjq.2	+	12	1519	c.1279_splice	c.e12+1	p.G427_splice	PNPLA6_uc002mgq.2_Splice_Site_p.G379_splice|PNPLA6_uc010xjp.2_Splice_Site_p.G379_splice|PNPLA6_uc002mgr.2_Splice_Site_p.G379_splice|PNPLA6_uc002mgs.3_Splice_Site_p.G418_splice	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	418					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGACATCTCAGGTTTGGAGC	0.602000														112			27		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	619547	619547	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:619547C>T	uc003gap.3	+	0	185	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_uc003gao.4_Silent_p.C44C	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	44					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632000														147			18		0	0	1	0	0
SMEK1	55671	broad.mit.edu	37	14	91937229	91937229	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91937229G>A	uc001xzn.3	-	9	2434	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	SMEK1_uc001xzm.3_Missense_Mutation_p.R525W|SMEK1_uc001xzo.3_Missense_Mutation_p.R525W|SMEK1_uc010atz.3_Missense_Mutation_p.R299W|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	538						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AGCACTCTCCGGAGGATATCC	0.358000														82			19		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20990139	20990139	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20990139G>A	uc003zog.1	+	43	5385	c.5022G>A	c.(5020-5022)ttG>ttA	p.L1674L	FOCAD_uc003zoh.1_Silent_p.L1110L	NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	1674						integral to membrane	binding										ACTTCTTCTTGCTGATATTTG	0.478000														100			19		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049369	42049369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42049369C>T	uc001cgz.4	-	3	2313	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	HIVEP3_uc001cha.4_Missense_Mutation_p.R367H|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	367	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCGCTTAAGCGGAGGGCCAG	0.552000														166			31		0	0	1	0	0
SSBP2	23635	broad.mit.edu	37	5	80762814	80762814	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80762814G>T	uc003khp.3	-	8	852	c.641C>A	c.(640-642)cCt>cAt	p.P214H	SSBP2_uc003khn.3_Missense_Mutation_p.P80H|SSBP2_uc011ctr.2_Missense_Mutation_p.P176H|SSBP2_uc003kho.3_Missense_Mutation_p.P206H|SSBP2_uc011ctp.2_Missense_Mutation_p.P186H|SSBP2_uc011ctq.2_Missense_Mutation_p.P184H	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	206	Gly-rich.|Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		AGGCATTCCAGGGCCACCTAA	0.338000														81			17		1.33834e-09	1.48855e-09	1	1	0
KCNV2	169522	broad.mit.edu	37	9	2718157	2718157	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2718157G>A	uc003zho.2	+	0	632	c.418G>A	c.(418-420)Gac>Aac	p.D140N		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	140						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		AAGCCTGTGCGACGACTACGA	0.637000														35			9		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004414	41004414	+	Missense_Mutation	SNP	G	A	A	rs150410758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004414G>A	uc002ibv.3	+	0	1214	c.1054G>A	c.(1054-1056)Gtt>Att	p.V352I		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	352					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GATCTTTGACGTTCGCTTCCA	0.542000														114			25		0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202934626	202934626	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202934626G>T	uc001gyt.2	-	4	419	c.348C>A	c.(346-348)gtC>gtA	p.V116V	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	116	FAD-binding FR-type.				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			CCTTCAGGTAGACCTTACAAG	0.507000														217			14		3.35478e-16	3.99472e-16	1	1	0
ODZ1	10178	broad.mit.edu	37	X	123514421	123514421	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123514421G>T	uc010nqy.3	-	31	8228	c.8164C>A	c.(8164-8166)Cac>Aac	p.H2722N	ODZ1_uc011muj.2_Missense_Mutation_p.H2721N|ODZ1_uc004euj.3_Missense_Mutation_p.H2715N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2715					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTCATAAAGTGAATATTATTG	0.398000														128			33		2.08457e-15	2.46654e-15	1	1	0
INTS5	80789	broad.mit.edu	37	11	62417038	62417038	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62417038C>T	uc001nud.3	-	1	567	c.514G>A	c.(514-516)Gct>Act	p.A172T	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	172					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TCATTAAGAGCGCCAGTAGCG	0.567000														94			23		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099627	142099627	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142099627C>A	uc003vyz.1	-	1	175	c.175G>T	c.(175-177)Ggg>Tgg	p.G59W	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.G59W					SubName: Full=Uncharacterized protein;																		GGCCCCTGCCCCAGGGCCTGT	0.512000														100			25		1.64293e-13	1.91604e-13	1	1	0
SEC61A2	55176	broad.mit.edu	37	10	12204260	12204260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12204260G>A	uc001ile.2	+	10	1363	c.1216G>A	c.(1216-1218)Gat>Aat	p.D406N	SEC61A2_uc010qbq.1_Missense_Mutation_p.D384N|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.D406N	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	406						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				GGGCCACCGAGATACCTCTAT	0.428000														208			42		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422753	64422753	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64422753G>T	uc003pep.1	+	14	5294	c.5269G>T	c.(5269-5271)Gga>Tga	p.G1757*	PHF3_uc003pen.2_Nonsense_Mutation_p.G1669*|PHF3_uc011dxs.1_Nonsense_Mutation_p.G1026*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1757					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATTTCGAAGAGGATCAGCAGT	0.403000														136			33		9.65021e-13	1.11782e-12	1	1	0
SLC9A3R1	9368	broad.mit.edu	37	17	72764365	72764365	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72764365C>T	uc002jlo.3	+	4	1101	c.878C>T	c.(877-879)aCc>aTc	p.T293I		NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	293					Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						TCCAGTGACACCAGCGAGGAG	0.642000														185			28		0	0	1	0	0
KCNE2	9992	broad.mit.edu	37	21	35742840	35742840	+	Silent	SNP	T	G	G	rs138954752		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35742840T>G	uc021wis.1	+	0	63	c.63T>G	c.(61-63)acT>acG	p.T21T	KCNE2_uc002ytt.1_Silent_p.T21T	NM_172201	NP_751951	Q9Y6J6	KCNE2_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 2 (KCNE2), mRNA.	21					blood circulation|muscle contraction|regulation of heart contraction	lysosome|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(1)	2						TTTTTATTACTTATATGGACA	0.433000														126			17		0	0	1	0	0
FAM26D	221301	broad.mit.edu	37	6	116879157	116879157	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116879157T>C	uc003pxa.3	+	3	598	c.299T>C	c.(298-300)cTc>cCc	p.L100P	FAM26D_uc003pwz.3_Missense_Mutation_p.L57P|FAM26D_uc010ked.3_Missense_Mutation_p.L99P|FAM26D_uc021zed.1_Missense_Mutation_p.L57P	NM_153036	NP_694581	Q5JW98	FA26D_HUMAN	Homo sapiens family with sequence similarity 26, member D (FAM26D), mRNA.	243						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		TCTCGGCTCCTCATGATGCAT	0.493000														184			18		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76796041	76796041	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76796041G>A	uc009yup.3	+	1	294	c.109G>A	c.(109-111)Gac>Aac	p.D37N	CAPN5_uc001oxx.3_Missense_Mutation_p.D37N|CAPN5_uc009yuq.3_Missense_Mutation_p.D73N|CAPN5_uc001oxy.3_Missense_Mutation_p.D77N	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	37	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGCCACTGACGACTCACTCTA	0.657000														99			22		0	0	1	0	0
TCRB	0	broad.mit.edu	37	7	142099703	142099703	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142099703C>A	uc003vyz.1	-	1	99	c.99G>T	c.(97-99)aaG>aaT	p.K33N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.K33N					SubName: Full=Uncharacterized protein;																		CCTGTCCTCTCTTTGCGACTT	0.473000														83			19		5.35267e-07	5.74308e-07	1	1	0
ZNF623	9831	broad.mit.edu	37	8	144732313	144732313	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144732313G>T	uc003yzd.2	+	0	360	c.271G>T	c.(271-273)Gga>Tga	p.G91*	ZNF623_uc011lkp.1_Nonsense_Mutation_p.G51*|ZNF623_uc003yzc.2_Nonsense_Mutation_p.G51*	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GATCCAGACAGGAGAGACAGC	0.532000														185			37		1.67305e-13	1.95074e-13	1	1	0
CBX1	10951	broad.mit.edu	37	17	46153428	46153428	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46153428G>A	uc002ind.4	-	2	734	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	CBX1_uc002ine.4_Missense_Mutation_p.R85C	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	85						nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TCAGCTTTGCGCTTGCCTCCC	0.443000														76			21		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70508917	70508917	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70508917G>A	uc001joo.3	+	8	970	c.851G>A	c.(850-852)cGt>cAt	p.R284H	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.R89H|CCAR1_uc009xpx.1_Missense_Mutation_p.R258H|CCAR1_uc001jon.1_Missense_Mutation_p.R230H|CCAR1_uc010qiz.1_Missense_Mutation_p.R269H|CCAR1_uc010qja.1_Missense_Mutation_p.R269H|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	284					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	p.R284C(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						CCTCCTGTTCGTATAGTTTCA	0.408000														112			23		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16340106	16340106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16340106C>T	uc002gpy.3	+	14	2597	c.2198C>T	c.(2197-2199)aCt>aTt	p.T733I	TRPV2_uc002gpz.3_Missense_Mutation_p.T303I|C17orf76-AS1_uc021tqt.1_5'Flank|C17orf76-AS1_uc021tqu.1_5'Flank|C17orf76-AS1_uc010vwf.2_5'Flank|C17orf76-AS1_uc021tqv.1_5'Flank|C17orf76-AS1_uc021tqw.1_5'Flank|C17orf76-AS1_uc002gqb.4_5'Flank|C17orf76-AS1_uc010vwk.2_5'Flank|C17orf76-AS1_uc010vwh.2_5'Flank|C17orf76-AS1_uc021tqx.1_5'Flank|C17orf76-AS1_uc010vwi.2_5'Flank|C17orf76-AS1_uc010cpd.3_5'Flank|C17orf76-AS1_uc021tqy.1_5'Flank|C17orf76-AS1_uc002gqc.3_5'Flank|C17orf76-AS1_uc021tqz.1_5'Flank|C17orf76-AS1_uc010vwg.2_5'Flank|C17orf76-AS1_uc010vwj.2_5'Flank|C17orf76-AS1_uc002gqa.4_5'Flank|C17orf76-AS1_uc010vwo.1_5'Flank|C17orf76-AS1_uc010vwp.1_5'Flank|C17orf76-AS1_uc010vwl.1_5'Flank|C17orf76-AS1_uc010vwm.1_5'Flank|C17orf76-AS1_uc010vwn.1_5'Flank|C17orf76-AS1_uc021tra.1_5'Flank|C17orf76-AS1_uc021trb.1_5'Flank|C17orf76-AS1_uc021trc.1_5'Flank|C17orf76-AS1_uc010cpe.2_5'Flank|SNORD49B_uc010cpf.3_5'Flank	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	733					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTTACAGGAACTCTCGAGAAC	0.552000														171			24		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838663	145838663	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145838663G>A	uc003lob.3	+	3	695	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	TCERG1_uc003loc.3_Missense_Mutation_p.A219T|TCERG1_uc011dbt.2_Missense_Mutation_p.A219T	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	219	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ccaggcccaggcccaggccca	0.726000														122			26		0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121256050	121256050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121256050C>T	uc003eee.4	-	4	766	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	213	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity	p.V213L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCACAACCACCATTCCTAAA	0.363000								DNA polymerases (catalytic subunits)						86			14		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51957546	51957546	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51957546G>A	uc002pwt.3	-	5	1239	c.1172C>T	c.(1171-1173)tCg>tTg	p.S391L	SIGLEC8_uc010yda.2_Missense_Mutation_p.S282L|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.S298L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	391					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGCCTTGCCGATTTCTTCCT	0.597000														221			40		0	0	1	0	0
NEUROG1	4762	broad.mit.edu	37	5	134871080	134871080	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134871080C>T	uc003lax.3	-	0	560	c.301G>A	c.(301-303)Gag>Aag	p.E101K		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	101					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGTTGCGCTCGCGATCGTTG	0.706000														49			10		0	0	1	0	0
DDX58	23586	broad.mit.edu	37	9	32488121	32488121	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32488121A>G	uc003zra.3	-	7	1192	c.1034T>C	c.(1033-1035)aTt>aCt	p.I345T	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mjk.1_Missense_Mutation_p.I300T|DDX58_uc011lnr.1_Missense_Mutation_p.I142T|DDX58_uc010mji.3_Missense_Mutation_p.I274T	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	345	Helicase ATP-binding.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGGAGTTAAAATGATGATGTC	0.383000														87			27		0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94419708	94419708	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94419708C>T	uc001ycd.3	-	4	994	c.624G>A	c.(622-624)ccG>ccA	p.P208P	ASB2_uc001ycc.2_Silent_p.P160P|ASB2_uc001yce.1_Silent_p.P106P	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	160					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		CTTTGTAGAGCGGTGTCTCTC	0.572000														237			42		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145114642	145114642	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145114642C>T	uc003zar.3	-	2	305	c.223G>A	c.(223-225)Gcc>Acc	p.A75T	OPLAH_uc003zat.1_5'Flank	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	75							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CGGATGCTGGCGATATGACTG	0.687000														84			22		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27692284	27692284	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27692284A>C	uc001itu.2	-	2	1332	c.1214T>G	c.(1213-1215)tTt>tGt	p.F405C		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	405	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCAGTCAAACCTGTAAAT	0.438000														118			21		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26923286	26923286	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26923286G>A	uc001uqr.1	+	2	305	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CDK8_uc001uqs.1_Nonsense_Mutation_p.W94*|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	94	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GGAAGGTGTGGCTTCTGTTTG	0.413000														214			40		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946641	144946641	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946641G>A	uc021ouh.1	-	4	922	c.620C>T	c.(619-621)aCt>aTt	p.T207I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.T207I|PDE4DIP_uc001elx.4_Missense_Mutation_p.T273I|PDE4DIP_uc001emd.2_Missense_Mutation_p.T207I|PDE4DIP_uc001emc.2_Missense_Mutation_p.T207I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	207					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTCCATGCTAGTTGGCTCCTC	0.443000			T	PDGFRB	MPD									115			11		0	0	1	0	0
TLL2	7093	broad.mit.edu	37	10	98188430	98188430	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98188430G>A	uc001kml.2	-	4	837	c.596C>T	c.(595-597)aCg>aTg	p.T199M	TLL2_uc009xvf.2_Missense_Mutation_p.T147M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	199	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTCCTCATCCGTCCTTTCTAT	0.493000														110			11		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124289558	124289558	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124289558T>G	uc001uft.4	+	16	2629	c.2604T>G	c.(2602-2604)atT>atG	p.I868M	DNAH10_uc010tav.1_Missense_Mutation_p.I410M|DNAH10_uc010taw.1_Missense_Mutation_p.I353M	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	868	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAAGAAAATTTATGAGGTCC	0.443000														129			30		0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10465626	10465626	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10465626C>A	uc003wtc.3	-	3	6211	c.5982G>T	c.(5980-5982)caG>caT	p.Q1994H		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1994					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCTGGCTGGGCCTCCC	0.602000														543			125		1.45828e-52	1.86177e-52	1	1	0
KRT38	8687	broad.mit.edu	37	17	39595014	39595014	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39595014G>A	uc002hwq.1	-	3	1252	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582000														213			53		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72090900	72090900	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72090900G>A	uc001xms.3	+	3	2126	c.1765G>A	c.(1765-1767)Gcc>Acc	p.A589T	SIPA1L1_uc001xmt.3_Missense_Mutation_p.A589T|SIPA1L1_uc001xmu.3_Missense_Mutation_p.A589T|SIPA1L1_uc001xmv.3_Missense_Mutation_p.A589T|SIPA1L1_uc010ttm.2_Missense_Mutation_p.A64T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	589					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGCGGTTGGCCTTCAACAC	0.537000														179			34		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23240499	23240499	+	Silent	SNP	G	A	A	rs145104436		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23240499G>A	uc001wgn.2	+	8	1305	c.1305G>A	c.(1303-1305)acG>acA	p.T435T	OXA1L_uc001wgp.2_Silent_p.T359T	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	375					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CTGAAATGACGCGTCAGCTGC	0.463000														76			26		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57432600	57432600	+	Missense_Mutation	SNP	G	A	A	rs141039063		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57432600G>A	uc001smw.4	-	15	1766	c.1526C>T	c.(1525-1527)gCg>gTg	p.A509V	MYO1A_uc010sqz.2_Missense_Mutation_p.A347V|MYO1A_uc009zpd.3_Missense_Mutation_p.A509V	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	509	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CACCTTGCCCGCATAGTGGCA	0.577000														83			14		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480933	140480933	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480933G>A	uc003lio.3	+	0	700	c.700G>A	c.(700-702)Gat>Aat	p.D234N	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	234	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCTTAGATATAAACGA	0.547000														117			26		0	0	1	0	0
NHSL2	340527	broad.mit.edu	37	X	71359770	71359770	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71359770G>A	uc011mqa.2	+	5	2372	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	NHSL2_uc004eak.1_Missense_Mutation_p.R425Q|NHSL2_uc010nli.2_Missense_Mutation_p.R560Q	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	791										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					ATCTCCATCCGAAGCAAAACT	0.483000														41			12		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548220	35548220	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548220G>A	uc003zww.3	+	1	1957	c.1702G>A	c.(1702-1704)Gac>Aac	p.D568N	RUSC2_uc010mkq.3_Intron|RUSC2_uc003zwx.4_Missense_Mutation_p.D568N	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	568						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GAGTGTTGGGGACTCCTCCCA	0.637000														77			13		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42234671	42234671	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42234671G>A	uc003cky.3	+	7	1090	c.874G>A	c.(874-876)Gtt>Att	p.V292I	TRAK1_uc011azh.2_Missense_Mutation_p.V292I|TRAK1_uc011azi.2_Missense_Mutation_p.V292I|TRAK1_uc003ckz.4_Missense_Mutation_p.V218I|TRAK1_uc011azj.2_Missense_Mutation_p.V218I|TRAK1_uc003cla.3_Missense_Mutation_p.V234I	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	292	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ATCGCAAATAGTTGATTTGCA	0.478000														115			25		0	0	1	0	0
PHF21A	51317	broad.mit.edu	37	11	45992707	45992707	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45992707G>A	uc001ncc.4	-	6	1196	c.572C>T	c.(571-573)gCa>gTa	p.A191V	PHF21A_uc001ncb.4_Missense_Mutation_p.A191V|PHF21A_uc009ykx.3_Missense_Mutation_p.A191V|PHF21A_uc001nce.2_Missense_Mutation_p.A191V|PHF21A_uc001nca.1_5'UTR	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	191					blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GACAGCCTCTGCCCCAGGCCC	0.512000														79			20		0	0	1	0	0
SLC25A16	8034	broad.mit.edu	37	10	70248346	70248346	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70248346C>T	uc001joi.3	-	6	799	c.651G>A	c.(649-651)ggG>ggA	p.G217G	SLC25A16_uc010qiy.2_Silent_p.G119G|SLC25A16_uc001joj.3_Silent_p.G119G	NM_152707	NP_689920	P16260	GDC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16 (SLC25A16), nuclear gene encoding mitochondrial protein, mRNA.	217					coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity	p.G217E(1)		endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						CATGGGAAAGCCCAACACTCT	0.373000														44			10		0	0	1	0	0
ARL4D	379	broad.mit.edu	37	17	41477547	41477547	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477547G>T	uc002idt.3	+	1	628	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ARL4D_uc021txy.1_Missense_Mutation_p.E149D	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	149					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CTGAGGTGGAGAAGAGGCTGG	0.672000														34			14		3.27435e-08	3.57295e-08	1	1	0
KRTAP13-4	284827	broad.mit.edu	37	21	31802628	31802628	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31802628C>T	uc011acw.2	+	0	35	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	Homo sapiens keratin associated protein 13-4 (KRTAP13-4), mRNA.	12						intermediate filament				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	15						AACTTCTCCTCCCGCTCCTTT	0.547000														193			45		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152364595	152364595	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152364595G>A	uc021vrb.1	-	132	18301	c.18272C>T	c.(18271-18273)tCc>tTc	p.S6091F	NEB_uc002txr.3_Missense_Mutation_p.S2557F|NEB_uc002txu.3_Missense_Mutation_p.S7792F|NEB_uc021vrc.1_Missense_Mutation_p.S7792F|NEB_uc010fnx.3_Missense_Mutation_p.S6079F|NEB_uc021vrd.1_Missense_Mutation_p.S6091F|NEB_uc010zca.2_5'Flank|NEB_uc010zcb.2_5'Flank|NEB_uc002txt.4_Missense_Mutation_p.S596F	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6091					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATACGACATGGACTTCTCAGC	0.418000														20			4		0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155582081	155582081	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582081C>T	uc001fky.3	+	7	820	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	MSTO1_uc001fkw.3_Silent_p.L263L|MSTO1_uc001fkx.3_Silent_p.L263L|MSTO1_uc001fld.4_Silent_p.L85L|MSTO1_uc009wqs.3_Silent_p.L142L|MSTO1_uc010pgf.2_Silent_p.L208L|MSTO1_uc001fla.3_Silent_p.L82L|MSTO1_uc001flb.3_Silent_p.L132L|MSTO1_uc001flc.3_Silent_p.L85L	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	Homo sapiens misato homolog 1 (Drosophila) (MSTO1), mRNA.	263					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					AACCTGGGGCCTGCTACCTGG	0.552000														140			33		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160858179	160858179	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160858179C>T	uc003qti.3	+	6	1251	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	408						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GACGACGCCTCCCCTTTGCGG	0.522000														308			55		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6479370	6479370	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6479370G>A	uc001mdh.3	-	3	684	c.288C>T	c.(286-288)gcC>gcT	p.A96A	TRIM3_uc001mdi.3_Silent_p.A96A|TRIM3_uc010raj.2_5'UTR|TRIM3_uc009yfd.3_Silent_p.A96A|TRIM3_uc010rak.1_Silent_p.A96A|TRIM3_uc001mdj.2_5'UTR	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	96					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGGTCGTGGGCCCCATCAG	0.652000														174			36		0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99959071	99959071	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99959071C>T	uc001ygi.4	+	1	187	c.57C>T	c.(55-57)caC>caT	p.H19H		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	19					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ACCTGGACCACACAAAGCCAT	0.458000														48			11		0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273462	26273462	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26273462C>T	uc003nhk.3	+	0	259	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	HIST1H3G_uc003nhi.3_5'Flank	NM_003525	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bi (HIST1H2BI), mRNA.	87					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						TTATAACAAGCGCTCGACCAT	0.602000														256			77		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37239786	37239786	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37239786C>T	uc002hrg.2	-	8	1127	c.915G>A	c.(913-915)ctG>ctA	p.L305L	LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Silent_p.L13L|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Intron	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	305					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction		p.C304S(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCCTATGCTGCAGGCAGGCTG	0.567000														49			5		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121137938	121137938	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121137938A>C	uc003eec.4	+	27	3695	c.3555A>C	c.(3553-3555)caA>caC	p.Q1185H	STXBP5L_uc011bji.2_Missense_Mutation_p.Q1161H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1185					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AATGGTACCAATTCTGACTTC	0.368000														76			19		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14387901	14387901	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14387901C>T	uc003jff.3	+	22	3832	c.3826C>T	c.(3826-3828)Cga>Tga	p.R1276*	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Nonsense_Mutation_p.R1227*|TRIO_uc003jfh.1_Nonsense_Mutation_p.R925*	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1276					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGAAACTTCGAGATGCTGC	0.433000														62			19		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825103	52825103	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825103A>G	uc010ydl.2	+	4	670	c.600A>G	c.(598-600)gaA>gaG	p.E200E	ZNF480_uc002pyv.3_Silent_p.E123E|ZNF480_uc010ydm.2_Silent_p.E157E|ZNF480_uc010epn.3_Silent_p.E31E|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		ACCTTAGAGAAAAACCTTATG	0.338000														83			6		0	0	1	0	0
KCNAB2	8514	broad.mit.edu	37	1	6155597	6155597	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6155597C>T	uc009vlv.2	+	12	1260	c.717C>T	c.(715-717)ggC>ggT	p.G239G	KCNAB2_uc001alv.2_Silent_p.G239G|KCNAB2_uc001alw.2_Silent_p.G225G|KCNAB2_uc001alx.2_Silent_p.G239G|KCNAB2_uc001aly.2_Silent_p.G287G|KCNAB2_uc009vlw.2_Silent_p.G172G|KCNAB2_uc001alu.3_Silent_p.G239G	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	239						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V238L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAGTGGGCGCCATGACCT	0.632000														134			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79321848	79321848	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79321848G>A	uc010mpk.3	-	7	5466	c.5342C>T	c.(5341-5343)gCa>gTa	p.A1781V	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.A1603V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1781					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCACTGCTGTAATCTG	0.438000														37			9		0	0	1	0	0
PLXNC1	10154	broad.mit.edu	37	12	94673321	94673321	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94673321T>C	uc001tdc.3	+	21	3920	c.3671T>C	c.(3670-3672)gTt>gCt	p.V1224A	PLXNC1_uc010sut.2_Missense_Mutation_p.V271A|PLXNC1_uc009zsv.3_5'UTR	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1224					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAGTCAATGTTCTCGACTGT	0.408000														89			19		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18162409	18162409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18162409G>A	uc021wbb.1	+	6	2164	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	CSRP2BP_uc002wqk.3_Missense_Mutation_p.R448H|CSRP2BP_uc010zru.2_Missense_Mutation_p.R447H	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	576					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTTTGTATCGCTTGGTAGGA	0.428000														164			33		0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21814035	21814035	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21814035C>A	uc010vbl.1	-	7	623	c.126G>T	c.(124-126)cgG>cgT	p.R42R	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CAATACCCTGCCGGGATGCAT	0.358000														59			16		7.07596e-05	7.35997e-05	1	1	0
ZBTB44	29068	broad.mit.edu	37	11	130108397	130108397	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130108397G>T	uc001qga.3	-	3	1603	c.1209C>A	c.(1207-1209)acC>acA	p.T403T	ZBTB44_uc001qgb.4_Silent_p.T403T|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qfz.3_Silent_p.T403T	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		GCACCCCGCAGGTTGGACACT	0.498000														25			3		0.115264	0.115636	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168112785	168112785	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168112785G>A	uc010jjg.3	-	30	3903	c.3483C>T	c.(3481-3483)tgC>tgT	p.C1161C	SLIT3_uc003mab.3_Silent_p.C1154C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1154	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCTTCTCGCATCTGGGGC	0.647000														118			16		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63676641	63676641	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63676641C>T	uc001nxw.3	+	18	2878	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	MARK2_uc001nxv.4_Missense_Mutation_p.R703W|MARK2_uc001nxx.3_Missense_Mutation_p.R698W|MARK2_uc001nxy.3_Missense_Mutation_p.R688W|MARK2_uc001nxz.4_Missense_Mutation_p.R724W|MARK2_uc009yoy.3_Missense_Mutation_p.R678W	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	767	KA1.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGATTTAAGCGGATATCGGG	0.612000														189			38		0	0	1	0	0
COPS6	10980	broad.mit.edu	37	7	99688878	99688878	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99688878G>T	uc003usu.3	+	7	698	c.667G>T	c.(667-669)Gca>Tca	p.A223S	DD413568_uc022aif.1_5'Flank	NM_006833	NP_006824	Q7L5N1	CSN6_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 6 (Arabidopsis) (COPS6), mRNA.	223	Interaction with Vpr.				cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ACACCTGATAGCACAGCACAG	0.577000														374			66		6.5469e-37	8.30616e-37	1	1	0
PRG4	10216	broad.mit.edu	37	1	186277190	186277190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277190G>A	uc001gru.4	+	6	2390	c.2339G>A	c.(2338-2340)gGg>gAg	p.G780E	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.G739E|PRG4_uc009wyl.3_Missense_Mutation_p.G687E|PRG4_uc009wym.3_Missense_Mutation_p.G646E|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	780	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGGGACTGCTCCA	0.607000														493			35		0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238050750	238050750	+	Missense_Mutation	SNP	G	A	A	rs140243550	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238050750G>A	uc001hym.3	-	4	952	c.665C>T	c.(664-666)gCg>gTg	p.A222V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	222	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.A222V(2)|p.A222G(2)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGGGTTACACGCACTGTCATT	0.517000														162			59		0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69651188	69651188	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69651188T>C	uc001jnd.3	+	3	871	c.818T>C	c.(817-819)tTc>tCc	p.F273S	SIRT1_uc010qis.2_5'UTR|SIRT1_uc009xpp.3_Missense_Mutation_p.F81S|SIRT1_uc001jne.3_5'UTR	NM_012238	NP_001135970	Q96EB6	SIRT1_HUMAN	Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA.	273	Deacetylase sirtuin-type.				DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin	HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						ATACCTGACTTCAGGTCAAGG	0.383000														156			33		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56572543	56572543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56572543G>A	uc002iwj.2	-	15	3070	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	987						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GACTTGCTTTGGATGACTGGA	0.507000														261			59		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33746091	33746091	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33746091G>A	uc011drm.2	-	5	1097	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	LEMD2_uc010jvg.3_Missense_Mutation_p.R71C|LEMD2_uc011drl.2_Missense_Mutation_p.R60C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	362						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						ACACCCATGCGGGGGTGGGCA	0.587000														184			42		0	0	1	0	0
AX746964	0	broad.mit.edu	37	5	140242614	140242614	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140242614G>A	uc003lhy.1	-	0	611	c.362C>T	c.(361-363)gCt>gTt	p.A121V	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					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ34090 fis, clone FCBBF3006399;																		TGTCGCAACAGCTGCATCTGT	0.637000														63			17		0	0	1	0	0
NOX1	27035	broad.mit.edu	37	X	100104325	100104325	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100104325C>A	uc004egj.3	-	10	1593	c.1387G>T	c.(1387-1389)Ggc>Tgc	p.G463C	NOX1_uc004egl.4_Intron|NOX1_uc010nne.3_Missense_Mutation_p.G426C	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	463	Interaction with NOXO1.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCCACTTTGCCTAATTCCTCC	0.448000														60			16		1.5739e-10	1.77479e-10	1	1	0
SLC2A6	11182	broad.mit.edu	37	9	136337180	136337180	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337180G>A	uc004cee.3	-	9	1582	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	SLC2A6_uc004cef.3_Missense_Mutation_p.S434F|SLC2A6_uc004ceg.3_Missense_Mutation_p.S473F	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	496						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCGGAAGAAGGACTCGATCTG	0.617000														127			31		0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35218302	35218302	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35218302G>T	uc001mvu.3	+	5	1111	c.677G>T	c.(676-678)aGc>aTc	p.S226I	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Intron|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	226	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	GCTTTGATGAGCACTAGTGCT	0.373000														43			9		0.0581538	0.0584306	1	1	0
L3MBTL4	91133	broad.mit.edu	37	18	6263998	6263998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6263998C>T	uc002kmz.4	-	4	327	c.167G>A	c.(166-168)tGg>tAg	p.W56*	L3MBTL4_uc002kmy.4_Nonsense_Mutation_p.W56*|L3MBTL4_uc010dkt.3_Nonsense_Mutation_p.W56*	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	56					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TTTCAAGTACCACTCCCAAGA	0.433000														115			12		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855062	65855062	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855062C>T	uc001dce.1	+	9	1518	c.1317C>T	c.(1315-1317)tgC>tgT	p.C439C	DNAJC6_uc001dcc.1_Silent_p.C413C|DNAJC6_uc001dcd.1_Silent_p.C382C|DNAJC6_uc010opc.1_Silent_p.C369C	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	382					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AACATTACTGCACAAAAGATG	0.428000														93			21		0	0	1	0	0
STX4	6810	broad.mit.edu	37	16	31051083	31051083	+	Missense_Mutation	SNP	G	A	A	rs149552887		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31051083G>A	uc002eal.3	+	9	1077	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	STX4_uc002eak.3_Missense_Mutation_p.V283I|STX4_uc002eam.3_Missense_Mutation_p.V207I|BC039500_uc002ean.1_5'Flank	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	285	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CATCACCGTCGTCCTCCTAGC	0.602000														371			87		0	0	1	0	0
SEPT5	5413	broad.mit.edu	37	22	19709380	19709380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709380C>T	uc002zpv.2	+	9	975	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	SEPT5_uc002zpw.1_Missense_Mutation_p.A289V|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	284					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGAAGCTGCGCAACATGCT	0.642000														124			40		0	0	1	0	0
PI15	51050	broad.mit.edu	37	8	75756308	75756308	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75756308C>T	uc003yal.3	+	2	545	c.366C>T	c.(364-366)ggC>ggT	p.G122G	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Silent_p.G122G	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	122						extracellular region	peptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GATTTTTGGGCCAAAATCTAT	0.438000														255			37		0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76112048	76112048	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76112048G>T	uc011kgk.1	+	2	571	c.219G>T	c.(217-219)aaG>aaT	p.K73N	DTX2_uc003uff.4_Missense_Mutation_p.K164N|DTX2_uc003ufg.4_Missense_Mutation_p.K164N|DTX2_uc003ufh.4_Missense_Mutation_p.K164N|DTX2_uc003ufj.4_Missense_Mutation_p.K164N	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	164	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGACCAACAAGACTTCCAGCT	0.647000														139			14		3.27435e-08	3.57295e-08	1	1	0
LRCH1	23143	broad.mit.edu	37	13	47262061	47262061	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47262061C>T	uc001vbk.3	+	5	1133	c.897C>T	c.(895-897)tcC>tcT	p.S299S	LRCH1_uc010acp.2_Silent_p.S299S|LRCH1_uc001vbj.3_Silent_p.S299S|LRCH1_uc001vbl.4_Silent_p.S299S	NM_001164211	NP_001157683	Q9Y2L9	LRCH1_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 1 (LRCH1), transcript variant 1, mRNA.	299										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CAGCTGACTCCCTTTATCTCC	0.423000														108			13		0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100057116	100057116	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100057116G>T	uc003pqg.1	+	2	591	c.330G>T	c.(328-330)tgG>tgT	p.W110C		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	110	SET.				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)		TGACAGTGTGGTATTCTAACT	0.522000														56			5		1.024e-07	1.11136e-07	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79985233	79985233	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79985233G>T	uc004akr.3	+	63	8988	c.8728G>T	c.(8728-8730)Gtt>Ttt	p.V2910F	VPS13A_uc004akp.4_Missense_Mutation_p.V2910F|VPS13A_uc004akq.4_Missense_Mutation_p.V2910F|VPS13A_uc004aks.3_Missense_Mutation_p.V2871F	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2910					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						TAAGGCACTAGTTGGTGGAGC	0.393000														92			25		2.12542e-12	2.45163e-12	1	1	0
FOXP1	27086	broad.mit.edu	37	3	71096168	71096168	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71096168G>T	uc003dol.3	-	5	912	c.589C>A	c.(589-591)Ctg>Atg	p.L197M	FOXP1_uc003dom.3_Missense_Mutation_p.L121M|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.L197M|FOXP1_uc003doo.3_Missense_Mutation_p.L197M|FOXP1_uc003dop.3_Missense_Mutation_p.L197M|FOXP1_uc021xao.1_Missense_Mutation_p.L197M|FOXP1_uc003doq.1_Missense_Mutation_p.L196M|FOXP1_uc003doi.3_Missense_Mutation_p.L97M|FOXP1_uc003dok.3_Missense_Mutation_p.L123M|FOXP1_uc003doj.3_Missense_Mutation_p.L199M	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	197	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCAAAGACAGGAGGTGCTGC	0.517000			T	PAX5	ALL									264			81		9.04243e-43	1.15079e-42	1	1	0
NACC1	112939	broad.mit.edu	37	19	13246051	13246051	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246051G>A	uc002mwm.3	+	1	198	c.30G>A	c.(28-30)ccG>ccA	p.P10P		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	10					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGAGATCCCGAACTTCGGCA	0.622000														92			20		0	0	1	0	0
EDC4	23644	broad.mit.edu	37	16	67914671	67914671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67914671C>T	uc002eur.3	+	17	2548	c.2309C>T	c.(2308-2310)gCt>gTt	p.A770V	EDC4_uc010cer.3_Missense_Mutation_p.A389V|EDC4_uc002eus.3_Missense_Mutation_p.A500V|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	770					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GACAGTATGGCTTCAGCCGCC	0.667000														333			78		0	0	1	0	0
CWC25	54883	broad.mit.edu	37	17	36963202	36963202	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36963202G>T	uc002hqu.3	-	6	871	c.718C>A	c.(718-720)Ctt>Att	p.L240I	CWC25_uc010wdv.2_Missense_Mutation_p.L177I|CWC25_uc010wdw.1_Non-coding_Transcript|CWC25_uc010wdx.1_Non-coding_Transcript	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	240										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGACCCTGAAGACCCTGGTTA	0.512000														116			23		2.39556e-15	2.83283e-15	1	1	0
NFE2L3	9603	broad.mit.edu	37	7	26225340	26225340	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:26225340A>C	uc003sxq.3	+	3	2294	c.2022A>C	c.(2020-2022)atA>atC	p.I674I		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	674					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GTATCTTGATAGTACCCAAAG	0.408000														109			19		0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109383920	109383920	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383920T>C	uc002tem.4	+	19	7051	c.6925T>C	c.(6925-6927)Tac>Cac	p.Y2309H		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2309	RanBD1 3.				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						AGATGGACAGTACTTTGAACC	0.413000														182			72		0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101536254	101536254	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536254G>A	uc004ayu.3	-	8	1747	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	ANKS6_uc004ayv.2_Missense_Mutation_p.R38W|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.R275W	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	576										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACGCGTCCGGGACCGATCA	0.642000														144			29		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95032245	95032245	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95032245T>C	uc004art.1	-	12	1483	c.1226A>G	c.(1225-1227)tAc>tGc	p.Y409C	IARS_uc004ars.1_Missense_Mutation_p.Y254C|IARS_uc004aru.3_Missense_Mutation_p.Y409C|IARS_uc010mqr.2_Missense_Mutation_p.Y299C|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	409					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CACTGCTTTGTAAATTAGAGG	0.478000														79			13		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461256	66461256	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461256C>T	uc021xzk.1	+	28	6557	c.6249C>T	c.(6247-6249)ccC>ccT	p.P2083P	MAST4_uc003jut.2_Silent_p.P1894P|MAST4_uc003juw.3_Silent_p.P1822P|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2086						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCAAGCCCGAAGCGCTTC	0.582000														105			34		0	0	1	0	0
SEC23A	10484	broad.mit.edu	37	14	39510075	39510075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39510075C>T	uc001wup.1	-	17	2226	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	SEC23A_uc010tqa.1_Missense_Mutation_p.R554Q|SEC23A_uc010tqb.1_Missense_Mutation_p.R639Q	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	668					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		TCCTGACTTCCGCCACTGTGC	0.373000														60			22		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289861	74289861	+	Missense_Mutation	SNP	G	A	A	rs141784144		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289861G>A	uc002jrd.1	-	3	629	c.449C>T	c.(448-450)cCg>cTg	p.P150L	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	150							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACGGGCCCTCGGCTGCTGCTG	0.552000														135			30		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420234	56420234	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420234G>T	uc002rzn.3	+	1	1401	c.899G>T	c.(898-900)aGc>aTc	p.S300I	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	300	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CATCCAGGGAGCAGCCCCGAA	0.637000														264			22		3.62473e-10	4.06567e-10	1	1	0
NTHL1	4913	broad.mit.edu	37	16	2094713	2094713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2094713G>A	uc002col.1	-	2	486	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TCRBV20S1_uc021tak.1_Intron	NM_002528	NP_002519	P78549	NTHL1_HUMAN	Homo sapiens nth endonuclease III-like 1 (E. coli) (NTHL1), mRNA.	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642000								Base excision repair (BER), DNA glycosylases						104			28		0	0	1	0	0
DNAJC3	5611	broad.mit.edu	37	13	96409944	96409944	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96409944A>C	uc001vmq.3	+	4	557	c.440A>C	c.(439-441)cAa>cCa	p.Q147P		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	147					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			GCACAGTCTCAACTTATAAAA	0.343000														59			13		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785247	11785247	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11785247G>A	uc010buu.1	-	8	1942	c.1880C>T	c.(1879-1881)cCg>cTg	p.P627L	TXNDC11_uc002dbg.1_Missense_Mutation_p.P600L	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	627					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTGGAGCTCGGAGCACCCAG	0.438000														168			31		0	0	1	0	0
WDR48	57599	broad.mit.edu	37	3	39111170	39111170	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39111170C>A	uc003cit.3	+	6	617	c.607C>A	c.(607-609)Cta>Ata	p.L203I	WDR48_uc011ayt.1_Missense_Mutation_p.L194I|WDR48_uc011ayu.1_Missense_Mutation_p.L121I|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	203					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		ATGTGCAAAACTAATGAAGCT	0.353000														107			22		9.39395e-14	1.09849e-13	1	1	0
UTRN	7402	broad.mit.edu	37	6	145075930	145075930	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:145075930C>A	uc003qkt.3	+	55	8522	c.8430C>A	c.(8428-8430)ctC>ctA	p.L2810L		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2810	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCATTTTCTCTCTAGTAAGT	0.383000														72			11		0.010729	0.0108564	1	1	0
HNRNPF	3185	broad.mit.edu	37	10	43882502	43882502	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882502G>A	uc009xmh.1	-	2	1318	c.831C>T	c.(829-831)ggC>ggT	p.G277G	HNRNPF_uc001jar.2_Silent_p.G277G|HNRNPF_uc001jas.2_Silent_p.G277G|HNRNPF_uc001jat.2_Silent_p.G277G|HNRNPF_uc001jav.2_Silent_p.G277G|HNRNPF_uc001jau.2_Silent_p.G277G|HNRNPF_uc021ppg.1_Silent_p.G277G|HNRNPF_uc010qfa.1_Missense_Mutation_p.A62T	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	277					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ACTCACTGTCGCCGTATCTGT	0.552000														85			18		0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107559841	107559841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107559841C>T	uc011cvc.2	-	4	2002	c.1595G>A	c.(1594-1596)gGa>gAa	p.G532E	FBXL17_uc003kon.4_Missense_Mutation_p.G134E	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	532										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GTGAATGACTCCTTTAGAAGT	0.398000														64			16		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113662141	113662141	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113662141C>T	uc001edf.1	+	16	3165	c.2967C>T	c.(2965-2967)agC>agT	p.S989S	LRIG2_uc009wgn.1_Silent_p.S886S	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	989						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CACAGATGAGCGGTGGTAAGG	0.438000														67			9		0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36124810	36124810	+	Silent	SNP	G	A	A	rs142361344	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36124810G>A	uc003aof.3	+	3	1167	c.1167G>A	c.(1165-1167)caG>caA	p.Q389Q		NM_030642	NP_085145	Q9BWW9	APOL5_HUMAN	Homo sapiens apolipoprotein L, 5 (APOL5), mRNA.	389					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TGGAGCACCAGCCTAGGCTGG	0.602000														177			28		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026860	79026860	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79026860A>G	uc003kgc.3	+	1	2344	c.2272A>G	c.(2272-2274)Aca>Gca	p.T758A		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	758						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTCACCATCCACAACCGAAAA	0.502000														109			28		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201461	179201461	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201461C>T	uc003mkm.3	+	4	2897	c.2634C>T	c.(2632-2634)agC>agT	p.S878S	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	878					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAATGTCTAGCCCGCAATTCT	0.612000														81			40		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17934647	17934647	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17934647G>T	uc002wqc.3	-	3	468	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Missense_Mutation_p.L128M|SNX5_uc002wqe.3_Missense_Mutation_p.L23M|SNX5_uc010zrt.1_Missense_Mutation_p.L128M	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	128	PX.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TACGCTTCCAGTTCTTGTTTC	0.423000														280			59		4.09106e-26	5.10784e-26	1	1	0
STRN3	29966	broad.mit.edu	37	14	31374730	31374730	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31374730G>T	uc001wqu.2	-	14	2139	c.1923C>A	c.(1921-1923)ggC>ggA	p.G641G	STRN3_uc001wqv.2_Silent_p.G557G|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	641					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGATCACAGCCTATAAAGT	0.358000														80			19		5.03518e-11	5.70985e-11	1	1	0
MYT1	4661	broad.mit.edu	37	20	62837056	62837056	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62837056G>T	uc002yii.3	+	5	664	c.300G>T	c.(298-300)aaG>aaT	p.K100N	MYT1_uc002yih.3_Missense_Mutation_p.K100N|MYT1_uc002yij.3_5'Flank	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	100					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CTGAGGTGAAGGACGCCTCTG	0.602000														92			13		2.27111e-07	2.44751e-07	1	1	0
NOSIP	51070	broad.mit.edu	37	19	50060162	50060162	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060162G>A	uc002pok.3	-	6	659	c.507C>T	c.(505-507)ccC>ccT	p.P169P	NOSIP_uc002pol.3_Silent_p.P169P|NOSIP_uc010yay.1_Non-coding_Transcript	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	169					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CCTTGGCTTCGGGCGTCAGCG	0.662000														59			13		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422316	53422316	+	Missense_Mutation	SNP	C	T	T	rs113194848		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422316C>T	uc001vhi.3	-	0	460	c.256G>A	c.(256-258)Ggg>Agg	p.G86R	PCDH8_uc001vhj.3_Missense_Mutation_p.G86R	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	86	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGGCGTCCCCGACGGTCAGC	0.647000														246			11		0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436839	248436839	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248436839G>T	uc010pzi.2	-	0	278	c.278C>A	c.(277-279)gCt>gAt	p.A93D		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			ACCACAGCCAGCGCGGGAGAT	0.577000														415			19		9.9191e-30	1.24789e-29	1	1	0
ATXN7L3	56970	broad.mit.edu	37	17	42273431	42273431	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273431C>T	uc002iga.3	-	5	585	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.R172Q	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	165					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGATCTTCGAGGGGAATT	0.498000														115			27		0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564482	36564482	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36564482C>T	uc001bzv.2	-	1	807	c.800G>A	c.(799-801)gGa>gAa	p.G267E	COL8A2_uc001bzw.2_Missense_Mutation_p.G202E	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	267	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCCACAGCTCCTGGCTCCCC	0.662000														52			8		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142764	3142764	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3142764G>A	uc002ctv.1	-	0	98	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	ZSCAN10_uc002cty.1_Intron|ZSCAN10_uc002ctw.1_Missense_Mutation_p.T11M|ZSCAN10_uc002ctx.1_5'UTR	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	4	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R4R(1)		breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGGACGCCCGTGGCCCCATG	0.657000														40			10		0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39650731	39650731	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650731T>C	uc001wuw.4	+	8	1915	c.1818T>C	c.(1816-1818)agT>agC	p.S606S		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	606	Necessary for interaction with PPIG.|Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		gtcgcagtagttccagtagca	0.512000														21			7		0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56094325	56094325	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094325T>C	uc002rzi.3	-	11	1866	c.1365A>G	c.(1363-1365)ttA>ttG	p.L455L	EFEMP1_uc002rzj.3_Silent_p.L455L|EFEMP1_uc010ypc.2_Silent_p.L317L	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	455	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TTGGTCCTGATAATGACTTCA	0.403000														84			33		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746841	156746841	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746841G>A	uc021ygm.1	+	13	1563	c.1425G>A	c.(1423-1425)agG>agA	p.R475R	CYFIP2_uc011ddn.2_Silent_p.R450R|CYFIP2_uc011ddo.2_Silent_p.R280R|CYFIP2_uc021ygn.1_Silent_p.R475R|CYFIP2_uc021ygo.1_Silent_p.R475R|CYFIP2_uc003lwt.3_Silent_p.R354R|CYFIP2_uc011ddp.2_Silent_p.R210R	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	476					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCCATCAGGAACACCATCT	0.597000														287			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179455352	179455352	+	Missense_Mutation	SNP	C	T	T	rs141973925	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179455352C>T	uc021vsy.1	-	252	53621	c.53396G>A	c.(53395-53397)cGg>cAg	p.R17799Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11494Q|TTN_uc021vta.1_Missense_Mutation_p.R11427Q|TTN_uc021vtb.1_Missense_Mutation_p.R11302Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18726	Ig-like 104.						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)			TTTGATGGGCCGGCAAGCTTT	0.433000														181			38		0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129394908	129394908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129394908G>A	uc003vpa.3	+	11	1576	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	NRF1_uc003voz.3_Missense_Mutation_p.A467T|NRF1_uc011kpa.2_Missense_Mutation_p.A306T|NRF1_uc003vpb.3_Missense_Mutation_p.A467T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	467					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GACCAGCCTCGCCCAGGGCAA	0.612000														166			10		0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99511757	99511757	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99511757C>T	uc002bum.3	-	4	841	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	PGPEP1L_uc010bop.3_3'UTR|PGPEP1L_uc002bun.3_Missense_Mutation_p.A127T	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	181					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGAACTGGGCTCTGTGCTTG	0.537000														33			6		0	0	1	0	0
SATB1	6304	broad.mit.edu	37	3	18457596	18457596	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18457596C>A	uc003cbh.3	-	3	2153	c.418G>T	c.(418-420)Gtt>Ttt	p.V140F	SATB1_uc003cbi.3_Missense_Mutation_p.V140F|SATB1_uc003cbj.3_Missense_Mutation_p.V140F	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	140	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GACAGTGGAACTGGATTCCAC	0.393000														81			29		1.16021e-09	1.29201e-09	1	1	0
RHCE	6006	broad.mit.edu	37	1	25701914	25701914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25701914C>T	uc001bkf.3	-	7	1165	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	RHCE_uc001bkg.3_Nonsense_Mutation_p.W315*|RHCE_uc001bkh.3_Intron|RHCE_uc001bki.3_Missense_Mutation_p.G209D|RHCE_uc001bkj.3_Missense_Mutation_p.G344D	NM_020485	NP_065231	P18577	RHCE_HUMAN	Homo sapiens Rh blood group, CcEe antigens (RHCE), transcript variant 1, mRNA.	360						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGGAAGCCAATCCTAGA	0.537000														228			20		0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	72987519	72987519	+	Splice_Site	SNP	G	T	T	rs113994184		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72987519G>T	uc002avd.3	+	2	387	c.49_splice	c.e2-1	p.R17_splice	BBS4_uc010ukv.2_Splice_Site|BBS4_uc002avb.3_Splice_Site_p.R9_splice|BBS4_uc002avc.3_Intron	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	9	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TCATTTCAGAGAACTCAATTT	0.353000									Bardet-Biedl syndrome					62			16		1.02788e-11	1.17486e-11	1	1	0
TMEM173	340061	broad.mit.edu	37	5	138860390	138860390	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138860390G>A	uc003lep.3	-	4	807	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_198282	NP_938023	Q86WV6	TM173_HUMAN	Homo sapiens transmembrane protein 173 (TMEM173), nuclear gene encoding mitochondrial protein, mRNA.	169					activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane	protein homodimerization activity|protein kinase binding|transcription factor binding			endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGGATCAGCCGCAGATATCCG	0.517000														54			13		0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52788203	52788203	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52788203C>T	uc002xwv.2	-	2	854	c.456G>A	c.(454-456)ggG>ggA	p.G152G	CYP24A1_uc002xwu.1_Silent_p.G10G|CYP24A1_uc002xww.2_Silent_p.G152G	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme 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(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GCCAGTCTTCCCCTTCCCTGT	0.463000														207			47		0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142651023	142651023	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142651023G>A	uc003wcb.3	-	8	1155	c.945C>T	c.(943-945)gaC>gaT	p.D315D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	315					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGGACAACCAGTCGATGGCGG	0.522000														239			26		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108516585	108516585	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108516585C>T	uc003kop.1	+	17	2570	c.2186C>T	c.(2185-2187)cCg>cTg	p.P729L	FER_uc011cvg.1_Missense_Mutation_p.P554L	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	729	Protein kinase.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A728S(1)		NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGGACAGCACCGGAAGCTCTT	0.368000														82			12		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75142502	75142502	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75142502G>T	uc001xqb.3	-	7	1485	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	KIAA0317_uc010tut.1_Missense_Mutation_p.S166Y	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AACAGCAGTGGATGGCCGGCG	0.517000														384			90		3.28864e-39	4.17869e-39	1	1	0
ZNF791	163049	broad.mit.edu	37	19	12739034	12739034	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12739034A>T	uc002mua.2	+	3	853	c.691A>T	c.(691-693)Att>Ttt	p.I231F	ZNF791_uc010xml.1_Missense_Mutation_p.I199F|ZNF791_uc010dyu.1_Missense_Mutation_p.I122F|ZNF791_uc010xmm.1_Missense_Mutation_p.I122F	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TTCCAGTTCTATTCGAGTACA	0.423000														69			19		0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45666402	45666402	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45666402C>T	uc002zeg.1	-	11	1523	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	DNMT3L_uc002zeh.1_Missense_Mutation_p.A348T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	347					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGTTCTGGGCCAGCAGGGAC	0.567000														83			16		0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138662175	138662175	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138662175C>T	uc011mdq.2	+	16	1725	c.1651C>T	c.(1651-1653)Cgc>Tgc	p.R551C	KCNT1_uc011mdr.2_Missense_Mutation_p.R378C|KCNT1_uc010nbf.3_Missense_Mutation_p.R506C|KCNT1_uc004cgo.1_Missense_Mutation_p.R300C	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	551						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTGGCAGCGCATGTATGG	0.677000														129			28		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46399765	46399765	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46399765C>A	uc001ncn.1	+	26	3049	c.2924C>A	c.(2923-2925)gCt>gAt	p.A975D	DGKZ_uc001nch.2_Missense_Mutation_p.A803D|DGKZ_uc010rgq.2_Missense_Mutation_p.A769D|DGKZ_uc010rgr.2_Missense_Mutation_p.A791D|DGKZ_uc001ncj.2_Missense_Mutation_p.A753D|DGKZ_uc001nck.2_Missense_Mutation_p.A565D|DGKZ_uc001ncm.2_Missense_Mutation_p.A786D|DGKZ_uc001ncl.2_Missense_Mutation_p.A787D|DGKZ_uc009yky.1_Missense_Mutation_p.A787D|DGKZ_uc010rgs.1_Missense_Mutation_p.A764D|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.3_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	975					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CAAGGGGATGCTGCACCCCCT	0.657000														29			8		3.09899e-07	3.33423e-07	1	1	0
abParts	0	broad.mit.edu	37	14	106815818	106815818	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106815818G>A	uc021ser.1	-	558		c.15909C>T								Parts of antibodies, mostly variable regions.																		TGGTGAATCGGCCCTTCACGG	0.522000														176			9		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136192	233136192	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233136192G>A	uc001hvl.2	-	29	5422	c.5187C>T	c.(5185-5187)caC>caT	p.H1729H	PCNXL2_uc001hvk.1_Silent_p.H381H|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1729						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGTCGCCCTCGTGGCAGATGA	0.622000														148			34		0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341725	100341725	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341725A>G	uc003huv.2	-	5	1067	c.826T>C	c.(826-828)Tac>Cac	p.Y276H	ADH7_uc021xqj.1_Missense_Mutation_p.Y284H	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	276					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TCAAAGGTGTATCCCACGTTG	0.443000														104			21		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45992145	45992145	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45992145C>T	uc002pcb.3	-	6	1571	c.1341G>A	c.(1339-1341)cgG>cgA	p.R447R	RTN2_uc002pcc.3_Silent_p.R374R|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	447	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGAAGAAGTGCCGCAGCTGCG	0.637000														31			10		0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170118947	170118947	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170118947A>G	uc011egy.2	-	2	341	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PHF10_uc011egz.2_Missense_Mutation_p.Y88H|PHF10_uc011eha.1_5'Flank	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	88					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TGAAGCATATAGTATTCTCCT	0.303000														93			14		0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281308	49281308	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281308T>C	uc010acw.1	+	1	645	c.355T>C	c.(355-357)Tat>Cat	p.Y119H	CYSLTR2_uc010acx.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010acy.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010acz.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010ada.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010adb.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010adc.1_Missense_Mutation_p.Y119H|CYSLTR2_uc010add.1_Missense_Mutation_p.Y119H|CYSLTR2_uc001vck.2_Missense_Mutation_p.Y119H|CYSLTR2_uc021rjl.1_Missense_Mutation_p.Y119H	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	119					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTATTCCTTGTATGTCAACAT	0.468000														178			19		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15375447	15375447	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15375447G>A	uc002nar.3	-	5	1202	c.980C>T	c.(979-981)cCt>cTt	p.P327L	BRD4_uc002nas.3_Missense_Mutation_p.P327L|BRD4_uc002nat.3_Missense_Mutation_p.P327L|BRD4_uc002nau.4_Missense_Mutation_p.P327L	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	327					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			AGGTTTCACAGGCCGGCTGCT	0.652000			T	C15orf55	lethal midline carcinoma of young people						OREG0025319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		243			14		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47860063	47860063	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47860063C>T	uc002zji.4	+	41	9448	c.9341C>T	c.(9340-9342)cCc>cTc	p.P3114L	PCNT_uc002zjj.3_Missense_Mutation_p.P2917L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3114	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding	p.P3114P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCCCAGACCCCGGCCGGCTT	0.567000														200			41		0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96107374	96107374	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96107374A>C	uc011cuo.1	+	29	2340	c.2256A>C	c.(2254-2256)aaA>aaC	p.K752N	CAST_uc003klt.3_Missense_Mutation_p.K693N|CAST_uc003klx.3_Missense_Mutation_p.K748N|CAST_uc003klz.1_Missense_Mutation_p.K706N|CAST_uc021ybt.1_Missense_Mutation_p.K671N|CAST_uc011cut.2_Missense_Mutation_p.K634N|CAST_uc011cur.2_Missense_Mutation_p.K692N|CAST_uc011cus.2_Missense_Mutation_p.K693N|CAST_uc003kma.2_Missense_Mutation_p.K664N|CAST_uc003kmd.3_Missense_Mutation_p.K684N|CAST_uc010jbj.3_Missense_Mutation_p.K397N|CAST_uc003kmh.3_Missense_Mutation_p.K420N|CAST_uc010jbk.2_Missense_Mutation_p.K421N|CAST_uc003kmi.3_Non-coding_Transcript|CAST_uc010jbl.2_Non-coding_Transcript|CAST_uc003kmk.3_Non-coding_Transcript|ERAP1_uc003kml.3_Intron|ERAP1_uc010jbm.2_Intron	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	706							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CCAAGCCAAAAGATGACTAAA	0.358000														70			24		0	0	1	0	0
TBCCD1	55171	broad.mit.edu	37	3	186272090	186272090	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186272090C>T	uc003fqg.3	-	5	1626	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	TBCCD1_uc011bry.2_Silent_p.Q499Q|TBCCD1_uc003fqh.3_Silent_p.Q403Q	NM_018138	NP_060608	Q9NVR7	TBCC1_HUMAN	Homo sapiens TBCC domain containing 1 (TBCCD1), transcript variant 2, mRNA.	499					cell morphogenesis|maintenance of Golgi location|maintenance of centrosome location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		TCTGTATCTTCTGTTCTCTTT	0.393000														184			35		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160480049	160480049	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160480049C>T	uc003qta.3	+	21	3158	c.3010C>T	c.(3010-3012)Cca>Tca	p.P1004S		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1004					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)		GCCAGCAAGGCCAGTCGGAAT	0.537000														156			27		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100961829	100961829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100961829C>T	uc011lvb.2	-	12	2801	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H	TBC1D2_uc004ayp.3_Missense_Mutation_p.R414H|TBC1D2_uc004ayq.3_Missense_Mutation_p.R863H|TBC1D2_uc004ayr.3_Missense_Mutation_p.R656H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	874						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CTGTTTCATGCGGAAGGGGTT	0.632000														442			87		0	0	1	0	0
MTA1	9112	broad.mit.edu	37	14	105905013	105905013	+	Silent	SNP	C	T	T	rs148162904		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105905013C>T	uc001yqx.3	+	1	220	c.33C>T	c.(31-33)taC>taT	p.Y11Y	MTA1_uc001yqy.3_Silent_p.Y11Y|MTA1_uc021seq.1_Silent_p.Y11Y|MTA1_uc001yqz.1_5'UTR|MTA1_uc001yra.1_5'UTR	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	11	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y11Y(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		TTGCAGACTACGTCTACTTTG	0.612000														278			67		0	0	1	0	0
TMEM174	134288	broad.mit.edu	37	5	72469182	72469182	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72469182G>A	uc010izc.3	+	0	160	c.112G>A	c.(112-114)Gcc>Acc	p.A38T		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	38						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		CAAGGCGGGGGCCACCTTGCT	0.557000														396			34		0	0	1	0	0
WDR5	11091	broad.mit.edu	37	9	137019649	137019649	+	Silent	SNP	C	T	T	rs140708390	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137019649C>T	uc004cey.3	+	9	864	c.693C>T	c.(691-693)gcC>gcT	p.A231A	WDR5_uc004cez.3_Silent_p.A231A	NM_017588	NP_438172	P61964	WDR5_HUMAN	Homo sapiens WD repeat domain 5 (WDR5), transcript variant 1, mRNA.	231					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		ACATCCTGGCCGCCACGCTGG	0.617000														399			80		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57539109	57539109	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57539109G>T	uc001snd.3	+	5	1143	c.677G>T	c.(676-678)aGc>aTc	p.S226I	LRP1_uc010sre.2_Missense_Mutation_p.S226I|LRP1_uc001snb.3_Missense_Mutation_p.S226I|LRP1_uc001snc.1_Missense_Mutation_p.S226I	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	226					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCTACGAGCACGCGGCAG	0.597000														93			14		9.31168e-06	9.81217e-06	1	1	0
C6orf58	352999	broad.mit.edu	37	6	127898440	127898440	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127898440C>A	uc003qbh.3	+	0	122	c.110C>A	c.(109-111)cCt>cAt	p.P37H		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	37						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		AAGGAGAGTCCTGGTCAGCTC	0.463000														156			27		1.17739e-12	1.36172e-12	1	1	0
TSPAN13	27075	broad.mit.edu	37	7	16818722	16818722	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16818722T>C	uc003stq.3	+	4	763	c.521T>C	c.(520-522)cTg>cCg	p.L174P		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	174						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		GGCATTGGCCTGTTCTTCAGT	0.423000														58			16		0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9188913	9188913	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9188913C>T	uc001apq.1	-	0	317	c.174G>A	c.(172-174)ctG>ctA	p.L58L	GPR157_uc010oad.1_Silent_p.L58L|GPR157_uc001apr.3_Silent_p.L58L|GPR157_uc001aps.3_Missense_Mutation_p.A107T	NM_024980	NP_079256	Q5UAW9	GP157_HUMAN	Homo sapiens G protein-coupled receptor 157 (GPR157), mRNA.	58						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGGCCGAGAGCAGGTCGGCCA	0.721000														20			6		0	0	1	0	0
DEF6	50619	broad.mit.edu	37	6	35285747	35285747	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35285747A>T	uc003okk.3	+	5	926	c.887A>T	c.(886-888)gAc>gTc	p.D296V	DEF6_uc010jvs.3_Missense_Mutation_p.D296V|DEF6_uc010jvt.3_Missense_Mutation_p.D41V	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	296	PH.					cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						AGCGCCTCAGACACGCGCCAG	0.612000														58			6		0	0	1	0	0
PPAP2B	8613	broad.mit.edu	37	1	56990067	56990067	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56990067G>A	uc001cyj.2	-	2	1025	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	153					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity	p.G152W(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						GGACGCAGGCGCCCTATGGAC	0.517000														202			31		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109768325	109768325	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109768325G>T	uc011eaq.2	-	16	2526	c.2235C>A	c.(2233-2235)acC>acA	p.T745T	MICAL1_uc003ptj.3_Silent_p.T726T|MICAL1_uc003ptk.3_Silent_p.T726T|MICAL1_uc010kdr.3_Silent_p.T640T	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	726	LIM zinc-binding.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGGCCTCACAGGTATGGCAGC	0.617000														143			24		2.48779e-11	2.83162e-11	1	1	0
CRISP1	167	broad.mit.edu	37	6	49819742	49819742	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49819742A>C	uc003ozw.2	-	2	246	c.167T>G	c.(166-168)gTt>gGt	p.V56G	CRISP1_uc003ozx.2_Missense_Mutation_p.V56G|CRISP1_uc021zaj.1_Missense_Mutation_p.V56G	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	56					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GGCTGGTGGAACTACTCTTCT	0.378000														104			24		0	0	1	0	0
PKP1	5317	broad.mit.edu	37	1	201289433	201289433	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201289433G>A	uc001gwd.3	+	7	1585	c.1334G>A	c.(1333-1335)cGt>cAt	p.R445H	PKP1_uc001gwe.3_Missense_Mutation_p.R424H|PKP1_uc009wzm.3_Missense_Mutation_p.R32H	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	445					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGACCATGCGTAACTACTCA	0.607000														92			9		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859635	131859635	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131859635G>T	uc003vra.4	-	20	4148	c.3919C>A	c.(3919-3921)Ctg>Atg	p.L1307M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1307						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCCATCCAGGTCACTGGTC	0.582000														184			24		3.6726e-16	4.37102e-16	1	1	0
EVPL	2125	broad.mit.edu	37	17	74017770	74017770	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017770C>T	uc010wss.1	-	7	1128	c.900G>A	c.(898-900)gcG>gcA	p.A300A	EVPL_uc002jqi.2_Silent_p.A300A|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	300	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGCCCCACCGCGGGGTGCC	0.726000														38			18		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68965365	68965365	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68965365A>G	uc003xxv.1	+	8	1004	c.977A>G	c.(976-978)aAt>aGt	p.N326S	PREX2_uc003xxu.1_Missense_Mutation_p.N326S|PREX2_uc011lez.1_Missense_Mutation_p.N261S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	326	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATTGTTGTTAATGGATGGAAG	0.318000														79			21		0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31082531	31082531	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31082531G>A	uc002hho.1	-	10	1458	c.1446C>T	c.(1444-1446)caC>caT	p.H482H	MYO1D_uc002hhp.1_Silent_p.H482H	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	482	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAAATGGGCGTGTTTGCCCA	0.393000														106			15		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56586165	56586165	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56586165G>T	uc002iwj.2	-	5	441	c.331C>A	c.(331-333)Ctc>Atc	p.L111I		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	111						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCCGTGAGAGCCACTCTTGG	0.587000														73			28		1.77063e-15	2.09702e-15	1	1	0
KIAA1467	57613	broad.mit.edu	37	12	13232935	13232935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13232935C>T	uc001rbi.3	+	11	1878	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	619						integral to membrane		p.P619S(2)		NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGTTGAAGCTCCCTACGAGGT	0.478000														49			6		0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70777093	70777093	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70777093A>G	uc004eaa.2	+	10	1607	c.1369A>G	c.(1369-1371)Aaa>Gaa	p.K457E	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.K447E|OGT_uc004eac.3_Missense_Mutation_p.K318E|OGT_uc004ead.3_Missense_Mutation_p.K76E	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	457					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CACGGCTCTGAAACTTAAGCC	0.378000														20			5		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136509	104136509	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136509C>T	uc001kux.2	+	31	4531	c.4237C>T	c.(4237-4239)Ctc>Ttc	p.L1413F	GBF1_uc001kuy.2_Missense_Mutation_p.L1413F|GBF1_uc001kuz.2_Missense_Mutation_p.L1414F	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1413					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAACTTTGAGCTCTGCGTCAA	0.547000														126			28		0	0	1	0	0
C2orf65	130951	broad.mit.edu	37	2	74802682	74802682	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74802682G>A	uc002smy.3	-	6	1074	c.957C>T	c.(955-957)tgC>tgT	p.C319C	C2orf65_uc010ysa.2_Silent_p.C319C|C2orf65_uc002smz.2_Silent_p.C319C|C2orf65_uc010ffp.3_Silent_p.C37C	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	319					RNA processing|chromatin assembly|female gamete generation|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						TCAATGACTCGCAGAGCCCGC	0.458000														141			42		0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458803	42458803	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42458803G>A	uc001zpd.3	-	15	1748	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	VPS39_uc001zpc.3_Silent_p.L522L|VPS39_uc001zpb.3_5'Flank	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	533					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGGCCTTTCAGAGGGGAGTTG	0.557000														86			15		0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57840074	57840074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840074G>A	uc002qoi.2	+	3	1601	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CAGCATCAACGGATTCACACT	0.493000														98			18		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92138680	92138680	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92138680C>T	uc003uly.3	-	8	1729	c.1633G>A	c.(1633-1635)Gac>Aac	p.D545N	PEX1_uc011khr.2_Missense_Mutation_p.D337N|PEX1_uc010ley.3_Missense_Mutation_p.D545N|PEX1_uc011khs.2_Missense_Mutation_p.D223N|PEX1_uc011kht.1_Intron	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	545					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AGAATAAAGTCAATTTCCTCA	0.343000														41			6		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48385520	48385520	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48385520C>T	uc002efi.1	+	14	2455	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	MIR548AE2_uc021thr.1_Intron|LONP2_uc002efj.1_Missense_Mutation_p.A745V	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	789					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAAGTGCTGGCGGCACACAGA	0.453000														89			16		0	0	1	0	0
STOX1	219736	broad.mit.edu	37	10	70645435	70645435	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70645435T>C	uc001jos.2	+	2	1970	c.1883T>C	c.(1882-1884)tTt>tCt	p.F628S	STOX1_uc001joq.3_Missense_Mutation_p.F518S|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.F518S	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	628						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CATTCCCACTTTGACAAATTA	0.443000														174			10		0	0	1	0	0
MRVI1-AS1	100129827	broad.mit.edu	37	11	10615776	10615776	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10615776G>A	uc001miu.3	+	2		c.415_splice	c.e2+1		MRVI1-AS1_uc021qds.1_Splice_Site|MRVI1_uc010rcb.1_Intron|MRVI1_uc001miw.2_Intron|MRVI1_uc001mix.3_Intron|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcc.1_Intron|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Intron|MRVI1_uc010rce.1_Intron					Homo sapiens MRVI1 antisense RNA 1 (non-protein coding) (MRVI1-AS1), non-coding RNA.																		GAGAACACAGGTAAGTTTCAG	0.562000														18			5		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1252652	1252652	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1252652G>A	uc001lta.3	+	14	1600	c.1541_splice	c.e14-1	p.A514_splice	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Splice_Site_p.A514_splice	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	514	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCGGCAGCCAACATCAC	0.647000														45			18		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7580632	7580632	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7580632G>A	uc003mxp.1	+	22	4488	c.4209G>A	c.(4207-4209)agG>agA	p.R1403R	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1403	Central fibrous rod domain.				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)		GAGAAAACAGGAGCTTATCTG	0.493000														95			22		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13361358	13361358	+	Missense_Mutation	SNP	G	A	A	rs145275394		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13361358G>A	uc003bxv.1	-	36	5371	c.5288C>T	c.(5287-5289)tCc>tTc	p.S1763F		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1763					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CAGGGTAGTGGACAGAGGCCC	0.612000														127			32		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61525105	61525105	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61525105G>T	uc002ydr.2	-	11	3326	c.3014C>A	c.(3013-3015)tCt>tAt	p.S1005Y	DIDO1_uc002yds.2_Missense_Mutation_p.S1005Y|DIDO1_uc002ydt.2_Missense_Mutation_p.S1005Y|DIDO1_uc002ydu.2_Missense_Mutation_p.S1005Y	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1005					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CACCATCACAGAAGTCAAGAC	0.557000														228			44		3.76604e-16	4.48148e-16	1	1	0
TRIM32	22954	broad.mit.edu	37	9	119461183	119461183	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461183G>A	uc022bmo.1	+	0	1162	c.1162G>A	c.(1162-1164)Gct>Act	p.A388T	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.A388T|TRIM32_uc004bjx.2_Missense_Mutation_p.A388T	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	388					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTACTAGTCGCTGACCGTGG	0.493000														186			43		0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20169002	20169002	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:20169002G>A	uc003cbq.3	+	10	2156	c.1710G>A	c.(1708-1710)gaG>gaA	p.E570E		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	Homo sapiens K(lysine) acetyltransferase 2B (KAT2B), mRNA.	570	N-acetyltransferase.				N-terminal peptidyl-lysine acetylation|cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|PCAF complex|chromatin remodeling complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						GATTCACAGAGATTGTCTTCT	0.428000														89			24		0	0	1	0	0
NMT2	9397	broad.mit.edu	37	10	15174860	15174860	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15174860G>A	uc001inz.1	-	5	759	c.675C>T	c.(673-675)gtC>gtT	p.V225V	NMT2_uc001ioa.1_Silent_p.V212V|NMT2_uc010qbz.1_Silent_p.V37V	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	225					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTATGAACCCGACCAGTTTTT	0.458000														151			16		0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21674239	21674239	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21674239C>T	uc004czz.1	-	0	2210	c.1668G>A	c.(1666-1668)ccG>ccA	p.P556P	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	556										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTAGGGCAGCGGCCGCAACC	0.677000														28			5		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19284985	19284985	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19284985G>T	uc002gvn.3	+	3	1849	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	MAPK7_uc002gvo.3_Missense_Mutation_p.R349M|MAPK7_uc002gvq.3_Missense_Mutation_p.R488M|MAPK7_uc002gvp.3_Missense_Mutation_p.R488M	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	488	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGTCTTTGAGGAGCCGGCTC	0.572000														55			11		5.16669e-11	5.85653e-11	1	1	0
BNIP2	663	broad.mit.edu	37	15	59964895	59964895	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59964895G>A	uc010uhc.2	-	5	882	c.879C>T	c.(877-879)gtC>gtT	p.V293V	BNIP2_uc010uhb.2_Silent_p.V234V	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	172	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						GCATGAAACAGACAGCAAACA	0.333000														77			14		0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147561405	147561405	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:147561405G>T	uc003ikv.3	+	1	923	c.675G>T	c.(673-675)atG>atT	p.M225I		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	225					MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TGGCCACCATGAACCCCATGC	0.726000														48			13		2.27111e-07	2.44751e-07	1	1	0
FNDC9	408263	broad.mit.edu	37	5	156770491	156770491	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156770491C>T	uc003lwu.2	-	1	242	c.54G>A	c.(52-54)tcG>tcA	p.S18S	CYFIP2_uc021ygm.1_Intron|CYFIP2_uc011ddn.2_Intron|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Intron|CYFIP2_uc021ygo.1_Intron|CYFIP2_uc003lwt.3_Intron|CYFIP2_uc011ddp.2_Intron|FNDC9_uc021ygp.1_Silent_p.S18S	NM_001001343	NP_001001343	Q8TBE3	FNDC9_HUMAN	Homo sapiens fibronectin type III domain containing 9 (FNDC9), mRNA.	18	Fibronectin type-III.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCGAGGACGACCAGGAGA	0.502000														80			20		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351056	55351056	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55351056C>A	uc002qhm.1	+	4	588	c.542C>A	c.(541-543)cCt>cAt	p.P181H	KIR3DL2_uc010yfj.2_Missense_Mutation_p.L175M|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.L182M|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	284	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CCTCTGGGCCCTGCCACCCAC	0.592000														392			85		1.75807e-36	2.22958e-36	1	1	0
SCAF11	9169	broad.mit.edu	37	12	46318633	46318633	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46318633G>A	uc001rox.3	-	11	4071	c.3784C>T	c.(3784-3786)Ccc>Tcc	p.P1262S	SCAF11_uc001row.3_Missense_Mutation_p.P947S	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	1262	Pro-rich.				spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGCATGAGGGGCACTCCTGTG	0.517000														102			25		0	0	1	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198405148	198405148	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198405148A>C	uc021vum.1	+	5	889	c.449A>C	c.(448-450)aAa>aCa	p.K150T	HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.K82T|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.K114T|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.K93T|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.K15T|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.K15T|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.K82T	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		GCAGCTCATAAAACTCCAAAA	0.303000														41			13		0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157497598	157497598	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157497598G>A	uc009wsm.3	-	8	1927	c.1769C>T	c.(1768-1770)cCg>cTg	p.P590L	FCRL5_uc001fqu.3_Missense_Mutation_p.P590L|FCRL5_uc010phv.1_Missense_Mutation_p.P590L|FCRL5_uc010phw.1_Missense_Mutation_p.P505L	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	590	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity	p.P590L(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGCCTCTCGGGGCCTCACA	0.592000														169			37		0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36262089	36262089	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36262089C>T	uc010jwf.2	+	3	627	c.627C>T	c.(625-627)caC>caT	p.H209H	PNPLA1_uc010jwe.1_Silent_p.H123H|PNPLA1_uc003olw.1_Silent_p.H114H	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	209					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CCATCTTCCACGACTTCCGCA	0.622000														173			43		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235969949	235969949	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235969949C>A	uc001hxj.2	-	5	2662	c.2487G>T	c.(2485-2487)gaG>gaT	p.E829D	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E829D	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	829					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTTTCTGTTGCTCCCCTAGGC	0.378000														220			58		8.77104e-35	1.11021e-34	1	1	0
LNPEP	4012	broad.mit.edu	37	5	96315306	96315306	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96315306C>T	uc003kmv.1	+	1	998	c.484C>T	c.(484-486)Cca>Tca	p.P162S	LNPEP_uc003kmw.1_Missense_Mutation_p.P148S	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	162					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.P162P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAAATTGTTTCCATGGGCACA	0.463000														157			40		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80646714C>T	uc010ysh.2	+	7	1283	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	CTNNA2_uc010yse.2_Silent_p.N426N|CTNNA2_uc010ysf.2_Silent_p.N426N|CTNNA2_uc010ysg.2_Silent_p.N426N|CTNNA2_uc010ysi.2_Silent_p.N58N	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	426					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.N426K(3)		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						AGCATGCCAACAAACTGGTAG	0.433000														95			6		0	0	1	0	0
TM4SF20	79853	broad.mit.edu	37	2	228230946	228230946	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228230946T>G	uc002vpb.2	-	2	302	c.264A>C	c.(262-264)tcA>tcC	p.S88S		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	88						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CACTGAAAAGTGATGAAAGAA	0.378000														61			25		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38132072	38132072	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38132072A>G	uc010gnb.3	-	9	3165	c.1751T>C	c.(1750-1752)cTg>cCg	p.L584P	HLCS_uc021wjb.1_Missense_Mutation_p.L584P|HLCS_uc002yvs.3_Missense_Mutation_p.L584P	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	584					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGTTAACCAGAACTCCGCC	0.348000														139			15		0	0	1	0	0
RBPJ	3516	broad.mit.edu	37	4	26417218	26417218	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26417218G>T	uc003grx.2	+	4	552	c.316G>T	c.(316-318)Gga>Tga	p.G106*	RBPJ_uc003gry.2_Nonsense_Mutation_p.G91*|RBPJ_uc003grz.2_Nonsense_Mutation_p.G106*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.G106*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.G92*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.G93*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	106					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TATTGGGATAGGAAATAGTGA	0.413000														172			45		1.31131e-34	1.65951e-34	1	1	0
YTHDC2	64848	broad.mit.edu	37	5	112849636	112849636	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112849636G>T	uc003kqn.3	+	0	246	c.44G>T	c.(43-45)gGc>gTc	p.G15V	YTHDC2_uc010jce.2_Missense_Mutation_p.G15V|YTHDC2_uc010jcf.2_5'UTR	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	15	Gly-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CCGGCTCCTGGCGGTGGCGGA	0.706000														58			19		5.03518e-11	5.70985e-11	1	1	0
KIF19	124602	broad.mit.edu	37	17	72345379	72345379	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72345379C>T	uc002jkm.4	+	9	1242	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KIF19_uc002jkj.2_Silent_p.I368I|KIF19_uc002jkk.2_Silent_p.I326I|KIF19_uc002jkl.2_Silent_p.I326I	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	368					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCATCATCGCTGACCTGC	0.642000														86			15		0	0	1	0	0
MRPS2	51116	broad.mit.edu	37	9	138395463	138395463	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138395463C>T	uc004cfv.4	+	3	449	c.375C>T	c.(373-375)ctC>ctT	p.L125L	BC015688_uc004cfy.3_Non-coding_Transcript	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	125					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		CCACGCACCTCCAGCTGGCCT	0.567000														126			14		0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125804220	125804220	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804220C>T	uc001lhn.3	-	2	1496	c.762G>A	c.(760-762)ccG>ccA	p.P254P	CHST15_uc001lhm.3_Silent_p.P254P|CHST15_uc010que.2_Silent_p.P254P|CHST15_uc001lho.3_Silent_p.P254P	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	254					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGTAGAAGTGCGGCAGGCAGC	0.657000														91			22		0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117556224	117556224	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117556224T>C	uc010oxb.1	+	3	1096	c.1038T>C	c.(1036-1038)agT>agC	p.S346S	CD101_uc009whd.3_Silent_p.S346S|CD101_uc010oxc.1_Silent_p.S346S|CD101_uc010oxd.1_Silent_p.S284S	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	346	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAGAGCAAGTCAAGGAGAGC	0.498000														107			10		0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101343202	101343202	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101343202G>T	uc001dtk.1	-	2	600	c.263C>A	c.(262-264)gCt>gAt	p.A88D	EXTL2_uc001dtl.1_Missense_Mutation_p.A88D|EXTL2_uc010ouk.1_Missense_Mutation_p.A75D|EXTL2_uc001dtm.1_Missense_Mutation_p.A88D	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	88					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		ATTTGGTACAGCCTGATAATG	0.418000														123			18		3.32936e-07	3.57961e-07	1	1	0
RECQL	5965	broad.mit.edu	37	12	21644468	21644468	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21644468C>T	uc001rex.3	-	3	547	c.199G>A	c.(199-201)Gct>Act	p.A67T	RECQL_uc001rey.3_Missense_Mutation_p.A67T	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	67					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTATTCCAAGCGGCAGGTGAA	0.323000								Other identified genes with known or suspected DNA repair function						47			10		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175128	63175128	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63175128G>A	uc001xfx.3	-	10	2116	c.2065C>T	c.(2065-2067)Cgc>Tgc	p.R689C	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	689					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R689L(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGCCGGAGGCGCTCCTCCTCC	0.498000														159			52		0	0	1	0	0
THAP3	90326	broad.mit.edu	37	1	6693075	6693075	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6693075C>A	uc001aoc.3	+	5	817	c.658C>A	c.(658-660)Ctc>Atc	p.L220I	THAP3_uc001aod.3_Missense_Mutation_p.L219I|THAP3_uc001aoe.2_Intron	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	220							DNA binding|metal ion binding			breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GTCCAGCCGCCTCCGTGCTTG	0.602000														44			15		6.31663e-08	6.86475e-08	1	1	0
CBLN4	140689	broad.mit.edu	37	20	54575785	54575785	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54575785A>G	uc002xxa.3	-	2	1193	c.408_splice	c.e2+1	p.Q136_splice		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	136	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CAAAACACACACCTGGATAGT	0.363000														124			21		0	0	1	0	0
PTBP1	5725	broad.mit.edu	37	19	807883	807883	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:807883A>C	uc002lpr.2	+	9	1162	c.1056A>C	c.(1054-1056)caA>caC	p.Q352H	PTBP1_uc002lps.2_Missense_Mutation_p.Q18H|PTBP1_uc002lpp.2_Missense_Mutation_p.Q378H|PTBP1_uc002lpq.2_Missense_Mutation_p.Q371H	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	352	RRM 3.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACACCCCAAAGCCTCTTTA	0.468000														214			42		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417345	54417345	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:54417345C>T	uc001xal.4	-	2	819	c.632G>A	c.(631-633)cGg>cAg	p.R211Q	BMP4_uc010aoh.3_Missense_Mutation_p.R211Q|BMP4_uc001xao.4_Missense_Mutation_p.R211Q|BMP4_uc001xan.4_Missense_Mutation_p.R211Q	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	211					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	p.R211W(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGTTTCCCACCGTGTCACATT	0.537000														179			29		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572492	127572492	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572492C>A	uc004bov.3	+	7	1873	c.1760C>A	c.(1759-1761)gCc>gAc	p.A587D	OLFML2A_uc004bow.3_Missense_Mutation_p.A373D	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	587	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ATCCTGTATGCCGTGGACACG	0.657000														177			31		6.38683e-12	7.32513e-12	1	1	0
ZFP106	64397	broad.mit.edu	37	15	42717205	42717205	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42717205T>C	uc001zpw.3	-	12	5275	c.4948A>G	c.(4948-4950)Atc>Gtc	p.I1650V	ZFP106_uc001zpu.3_Missense_Mutation_p.I748V|ZFP106_uc001zpv.3_Missense_Mutation_p.I835V|ZFP106_uc001zpx.3_Missense_Mutation_p.I878V	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1650						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CATTCAAAGATCTCAAGTCGT	0.448000														91			23		0	0	1	0	0
TMEM106C	79022	broad.mit.edu	37	12	48359923	48359923	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48359923C>A	uc001rqp.3	+	4	578	c.463C>A	c.(463-465)Ctg>Atg	p.L155M	TMEM106C_uc001rqo.3_Missense_Mutation_p.L155M|TMEM106C_uc001rqr.3_Missense_Mutation_p.L155M|TMEM106C_uc001rqq.3_Missense_Mutation_p.L155M	NM_024056	NP_076961	Q9BVX2	T106C_HUMAN	Homo sapiens transmembrane protein 106C (TMEM106C), transcript variant 2, mRNA.	155						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		AGTGACCAGCCTGTCCAGCCA	0.507000														136			8		0.000274275	0.000282808	1	1	0
HR	55806	broad.mit.edu	37	8	21986527	21986527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986527C>T	uc003xas.3	-	1	822	c.157G>A	c.(157-159)Gtc>Atc	p.V53I	HR_uc003xat.3_Missense_Mutation_p.V53I|HR_uc010lts.2_Missense_Mutation_p.V53I	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	53							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GTGCTCAGGACGCCCCTCCAA	0.677000														149			32		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3261761	3261761	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3261761C>A	uc004crg.4	-	1	271	c.114G>T	c.(112-114)gaG>gaT	p.E38D		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	38	LRRNT.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCAGTGGACCTCGCTGGGGA	0.617000														66			23		8.04996e-18	9.68579e-18	1	1	0
PALB2	79728	broad.mit.edu	37	16	23646945	23646945	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23646945C>T	uc002dlx.1	-	3	1122	c.922G>A	c.(922-924)Gct>Act	p.A308T		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	308	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTACTTATAGCTTTATTTACA	0.353000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						142			34		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113955419	113955419	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113955419G>A	uc002tjc.3	+	13	2736	c.2553G>A	c.(2551-2553)acG>acA	p.T851T	PSD4_uc002tjd.3_Silent_p.T471T|PSD4_uc002tje.3_Silent_p.T821T|PSD4_uc002tjf.3_Silent_p.T472T|PSD4_uc002tjg.3_Silent_p.T17T|PSD4_uc010yxs.2_Silent_p.T81T|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	851	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.T851T(2)|p.T851M(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCCCGCCACGCATTACACCA	0.652000														110			15		0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44589368	44589368	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44589368C>T	uc002zdd.1	+	0	228	c.159C>T	c.(157-159)ttC>ttT	p.F53F		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	53					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGTCCCTCTTCCGCACCGTGC	0.637000														255			28		0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201333469	201333469	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201333469C>T	uc001gwf.3	-	10	515	c.446G>A	c.(445-447)cGc>cAc	p.R149H	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_5'Flank|TNNT2_uc021phc.1_Missense_Mutation_p.R139H|TNNT2_uc001gwg.3_Missense_Mutation_p.R139H|TNNT2_uc001gwh.3_Missense_Mutation_p.R130H|TNNT2_uc001gwi.3_Missense_Mutation_p.R109H|TNNT2_uc009wzr.3_Missense_Mutation_p.R80H|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.R114H|TNNT2_uc001gwk.1_Missense_Mutation_p.R80H|TNNT2_uc009wzt.1_Missense_Mutation_p.R139H	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	149					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	p.R148W(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						ATTCCGGATGCGCTGCTGCTC	0.642000														79			10		0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17132303	17132303	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17132303C>T	uc003wxj.3	+	4	831	c.478C>T	c.(478-480)Cca>Tca	p.P160S	VPS37A_uc003wxk.3_Missense_Mutation_p.P135S|VPS37A_uc003wxl.3_5'UTR	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	160					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ATTTCTTCCTCCATATCCTCC	0.403000														96			18		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99681453	99681453	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99681453C>A	uc002szg.4	-	13	1981	c.1353G>T	c.(1351-1353)gaG>gaT	p.E451D	TSGA10_uc002szh.4_Missense_Mutation_p.E451D|TSGA10_uc002szi.4_Missense_Mutation_p.E451D|TSGA10_uc010fin.1_Missense_Mutation_p.E451D	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	451					spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						ATCTGTTACCCTCTGCCTCAG	0.373000														87			15		6.31663e-08	6.86475e-08	1	1	0
TNR	7143	broad.mit.edu	37	1	175304878	175304878	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175304878G>A	uc001gkp.1	-	17	3681	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G	TNR_uc009wwu.1_Silent_p.G1200G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	1200	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTTCCCGAAGCCAACACGGT	0.433000														173			30		0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92459545	92459545	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:92459545G>A	uc002bqx.2	+	1	704	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SLCO3A1_uc002bqy.2_Missense_Mutation_p.R168H|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R110H	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	168				R -> L (in Ref. 7; AAH00585).	sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTCATCTGCCGCAACCGGACG	0.701000														30			9		0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	395334	395334	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:395334C>T	uc001ifp.3	-	24	3136	c.3046G>A	c.(3046-3048)Gtg>Atg	p.V1016M	DIP2C_uc009xhi.1_Missense_Mutation_p.V402M	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1016						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATCAGCATCACGGCGATCTTC	0.617000														150			20		0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1479048	1479048	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1479048C>T	uc002fsu.3	-	14	1879	c.1572G>A	c.(1570-1572)ggG>ggA	p.G524G	SLC43A2_uc002fsv.3_Silent_p.G520G	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	520					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GAAGGAGCAGCCCCACGTTCA	0.682000														40			16		0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120692461	120692461	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692461C>T	uc002tmf.1	+	14	2053	c.1282C>T	c.(1282-1284)Cca>Tca	p.P428S	PTPN4_uc010flj.1_Missense_Mutation_p.P141S|PTPN4_uc010yyr.1_Missense_Mutation_p.P61S	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	428						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TCATACTTCCCCAAGCGAAGT	0.413000														78			31		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8166542	8166542	+	Missense_Mutation	SNP	A	G	G	rs35976967		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8166542A>G	uc002gkr.3	+	12	1667	c.1526A>G	c.(1525-1527)aAc>aGc	p.N509S	PFAS_uc010vuv.2_Missense_Mutation_p.N85S|PFAS_uc010cnw.1_Missense_Mutation_p.N63S|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	509					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCAAGGGAAACCCCATCTGC	0.577000														279			34		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121744055	121744055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121744055C>T	uc010flp.3	+	11	2188	c.2158C>T	c.(2158-2160)Cgc>Tgc	p.R720C	GLI2_uc002tmq.1_Missense_Mutation_p.R392C|GLI2_uc002tmr.1_Missense_Mutation_p.R375C|GLI2_uc002tmt.4_Missense_Mutation_p.R392C|GLI2_uc002tmu.4_Missense_Mutation_p.R375C|GLI2_uc002tmw.1_Missense_Mutation_p.R703C	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	720					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CCTCCAGCTGCGCAAACACAT	0.657000														112			14		0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779021	64779021	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779021T>G	uc002sdc.3	+	0	445	c.413T>G	c.(412-414)gTg>gGg	p.V138G	AFTPH_uc002scz.3_Missense_Mutation_p.V138G|AFTPH_uc002sda.3_Missense_Mutation_p.V138G|AFTPH_uc002sdb.3_Missense_Mutation_p.V138G	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	138					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATAAAGTAGTGGAGCAGAGA	0.358000														92			18		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463988	247463988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463988G>A	uc009xgv.3	-	7	1742	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ZNF496_uc001ico.3_Missense_Mutation_p.R533W	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	533					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGTCGTGCCGCTGGAAGGCC	0.622000														216			72		0	0	1	0	0
KRTAP15-1	254950	broad.mit.edu	37	21	31812852	31812852	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31812852A>C	uc002yod.3	+	0	207	c.207A>C	c.(205-207)agA>agC	p.R69S		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	69						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						CTTTGGCCAGATCCTATCAGA	0.512000														194			25		0	0	1	0	0
EPC1	80314	broad.mit.edu	37	10	32560500	32560500	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560500G>T	uc001iwg.1	-	13	2690	c.2420C>A	c.(2419-2421)tCt>tAt	p.S807Y	EPC1_uc001iwi.3_Missense_Mutation_p.S734Y|EPC1_uc001iwh.1_Missense_Mutation_p.S784Y	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	807					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TGAATCTACAGAGGATGAAGA	0.428000														206			50		1.07234e-20	1.31137e-20	1	1	0
COL4A6	1288	broad.mit.edu	37	X	107418934	107418934	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107418934G>A	uc004enw.4	-	28	2886	c.2783C>T	c.(2782-2784)tCa>tTa	p.S928L	COL4A6_uc004env.4_Missense_Mutation_p.S927L|COL4A6_uc011msn.2_Missense_Mutation_p.S927L|COL4A6_uc010npk.3_Missense_Mutation_p.S927L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	928	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TTTTCCAGTTGATCCTGGAAT	0.468000									Alport syndrome with Diffuse Leiomyomatosis					65			13		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131761996	131761996	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131761996G>A	uc004bws.1	+	33	3777	c.3755G>A	c.(3754-3756)aGt>aAt	p.S1252N	NUP188_uc004bwu.3_Missense_Mutation_p.S595N	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1252					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCGCCACAGTCTGGCATTA	0.572000														77			22		0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130829260	130829260	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829260G>T	uc004bta.3	-	0	340	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	SLC25A25_uc004btb.3_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	41	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTGGCGGCCAGGGGTACCCCG	0.607000														371			16		6.72482e-11	7.60803e-11	1	1	0
ZNF709	163051	broad.mit.edu	37	19	12638554	12638554	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12638554C>A	uc002mty.3	-	3	578	c.368G>T	c.(367-369)aGa>aTa	p.R123I	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						AAGGTGAGATCTGATGTGCCT	0.383000														94			24		4.16121e-05	4.33736e-05	1	1	0
TP53I13	90313	broad.mit.edu	37	17	27899263	27899263	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27899263G>T	uc002hee.3	+	5	655	c.617G>T	c.(616-618)aGg>aTg	p.R206M		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	206						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		AAGAGGCGGAGGCTGCGGGCT	0.662000														100			24		1.10923e-09	1.2355e-09	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60927304	60927304	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60927304G>A	uc002ycq.3	-	3	748	c.681C>T	c.(679-681)aaC>aaT	p.N227N	LAMA5_uc021wfw.1_Silent_p.N227N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	227	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ccacctctccGTTCTCCAGGG	0.692000														61			26		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153991470	153991470	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153991470C>A	uc001fdw.3	-	32	4664	c.4592G>T	c.(4591-4593)aGg>aTg	p.R1531M	NUP210L_uc009woq.3_Missense_Mutation_p.R440M|NUP210L_uc010peh.2_Missense_Mutation_p.R1531M	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1531						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCCGGACTCCTGGCCACTCC	0.428000														113			24		3.01185e-09	3.33505e-09	1	1	0
BAG3	9531	broad.mit.edu	37	10	121429472	121429472	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121429472C>A	uc001lem.3	+	1	596	c.290C>A	c.(289-291)cCt>cAt	p.P97H	BAG3_uc001lel.3_Missense_Mutation_p.P97H	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	97					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		ATTCCCATTCCTGTGCTCCAT	0.637000														375			22		6.44725e-10	7.21145e-10	1	1	0
NR1I2	8856	broad.mit.edu	37	3	119533866	119533866	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119533866G>A	uc003edj.3	+	5	2674	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	NR1I2_uc003edi.3_Missense_Mutation_p.A242T|NR1I2_uc003edk.3_Missense_Mutation_p.A318T|NR1I2_uc003edl.3_Missense_Mutation_p.A167T	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	279	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTGAAGGGGGCCGCTTTCGA	0.612000														106			25		0	0	1	0	0
AK3	50808	broad.mit.edu	37	9	4719298	4719298	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4719298C>A	uc003ziq.2	-	2	503	c.281G>T	c.(280-282)aGg>aTg	p.R94M	AK3_uc022bcz.1_Missense_Mutation_p.R24M|AK3_uc011lma.2_Missense_Mutation_p.R54M|AK3_uc022bda.1_Missense_Mutation_p.R24M|AK3_uc003zir.2_Missense_Mutation_p.R24M	NM_016282	NP_001186785	Q9UIJ7	KAD3_HUMAN	Homo sapiens adenylate kinase 3 (AK3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94					blood coagulation	mitochondrial matrix	ATP binding|GTP binding|nucleoside triphosphate adenylate kinase activity			large_intestine(2)|lung(1)|ovary(2)	5	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0302)		TGGAAGTGTCCTTGGAAAACC	0.418000														89			8		0.000157383	0.000162836	1	1	0
KNTC1	9735	broad.mit.edu	37	12	123072361	123072361	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123072361A>G	uc001ucv.3	+	38	3997	c.3834A>G	c.(3832-3834)tcA>tcG	p.S1278S	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1278					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGGTTGGTTCATTTGGTACCT	0.418000														37			7		0	0	1	0	0
CLTB	1212	broad.mit.edu	37	5	175843361	175843361	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175843361C>T	uc003meh.3	-	0	180	c.4G>A	c.(4-6)Gct>Act	p.A2T	CLTB_uc003mei.3_Missense_Mutation_p.A2T|CLTB_uc011dfn.2_Non-coding_Transcript	NM_007097	NP_009028	P09497	CLCB_HUMAN	Homo sapiens clathrin, light chain B (CLTB), transcript variant 2, mRNA.	2					intracellular protein transport|vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle	protein binding|structural molecule activity			lung(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.098)		AAGTCATCAGCCATTTTCCCC	0.746000														94			28		0	0	1	0	0
SPACA3	124912	broad.mit.edu	37	17	31322708	31322708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31322708G>A	uc002hhs.1	+	1	391	c.316G>A	c.(316-318)Gga>Aga	p.G106R	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	106					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CGGGCTGGACGGATACCGGGG	0.622000														76			11		0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15936764	15936764	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:15936764C>T	uc003jfn.1	+	3	1426	c.945C>T	c.(943-945)ggC>ggT	p.G315G		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	315					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CCGACGAAGGCCTGCGCTACC	0.667000														75			18		0	0	1	0	0
ADSS	159	broad.mit.edu	37	1	244579342	244579342	+	Missense_Mutation	SNP	G	A	A	rs147946123	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244579342G>A	uc001iaj.3	-	10	1426	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M		NM_001126	NP_001117	P30520	PURA2_HUMAN	Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	370					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding	p.T370T(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTTGATTTCCGTAAACATGTC	0.338000														43			13		0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658926	24658926	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24658926C>T	uc010tob.1	-	9	2855	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	IPO4_uc001wmu.2_5'Flank|IPO4_uc001wmv.1_5'UTR|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_5'UTR|IPO4_uc001wmy.1_5'UTR|IPO4_uc001wmz.2_5'UTR|TM9SF1_uc001wnb.1_Missense_Mutation_p.A506T|TM9SF1_uc010toa.1_Missense_Mutation_p.A419T	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	506					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AGCAGGATGGCGAAGACAAAG	0.527000														152			22		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150884173	150884173	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150884173C>T	uc003wjm.1	-	0	306	c.45G>A	c.(43-45)gaG>gaA	p.E15E	ASB10_uc003wjl.1_Silent_p.E15E|ASB10_uc003wjn.1_Intron	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	15					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATCGAGGGGCTCTCCCTGCC	0.617000														30			7		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220504209	220504209	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220504209T>G	uc002vmo.4	+	19	3319	c.3110T>G	c.(3109-3111)aTc>aGc	p.I1037S	SLC4A3_uc002vmp.4_Missense_Mutation_p.I1010S|SLC4A3_uc010fwm.3_Missense_Mutation_p.I560S	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	1010	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCAGGCTTATCGTCAGCCAG	0.662000														221			42		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16668425	16668425	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16668425G>A	uc003jft.4	-	39	6504	c.6036C>T	c.(6034-6036)atC>atT	p.I2012I	MYO10_uc011cnb.2_Silent_p.I641I|MYO10_uc011cnc.2_Silent_p.I891I|MYO10_uc011cnd.2_Silent_p.I1369I|MYO10_uc011cne.2_Silent_p.I1369I|MYO10_uc010itx.3_Silent_p.I1634I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	2012	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity	p.I2012I(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CATCGACCACGATCTTATACG	0.478000														209			25		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22206738	22206738	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22206738C>T	uc003svg.3	-	11	1087	c.774G>A	c.(772-774)acG>acA	p.T258T	RAPGEF5_uc011jym.1_Silent_p.T108T	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	108					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AGACAGTGTACGTGAGAAGGA	0.453000														29			5		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108586668	108586668	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108586668A>C	uc001pkm.3	+	10	1450	c.1385A>C	c.(1384-1386)cAa>cCa	p.Q462P	DDX10_uc001pkl.1_Missense_Mutation_p.Q462P	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	462							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCTCAAGATCAAGATTTAAAA	0.289000			T	NUP98	AML*									25			7		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103174	168103174	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168103174C>A	uc002udx.3	+	8	5361	c.5272C>A	c.(5272-5274)Ctg>Atg	p.L1758M	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.L1583M|XIRP2_uc010fpq.3_Missense_Mutation_p.L1536M|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1583					actin cytoskeleton organization	cell junction	actin binding			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						TTTGGATTATCTGAAACAACT	0.373000														74			27		7.07758e-08	7.69019e-08	1	1	0
CCDC13	152206	broad.mit.edu	37	3	42777266	42777266	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42777266G>A	uc003cly.4	-	9	1388	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	435										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						AGCTACCATGGCCTGCAGCTG	0.602000														194			29		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56569901	56569901	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56569901G>T	uc002iwj.2	-	17	3491	c.3381C>A	c.(3379-3381)ttC>ttA	p.F1127L		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	1127						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity	p.E1126Q(1)		breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGCCAACCAGAATTCACAGT	0.453000														293			70		3.94839e-29	4.96391e-29	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41275730	41275730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275730G>A	uc010hia.1	+	10	1781	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	CTNNB1_uc003ckq.2_Missense_Mutation_p.R542H|CTNNB1_uc003ckp.2_Missense_Mutation_p.R542H|CTNNB1_uc003ckr.2_Missense_Mutation_p.R542H|CTNNB1_uc011azf.1_Missense_Mutation_p.R535H|CTNNB1_uc011azg.1_Missense_Mutation_p.R470H|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	542					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTGCTTGTTCGTGCACATCAG	0.488000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					79			17		0	0	1	0	0
ARRDC4	91947	broad.mit.edu	37	15	98513913	98513913	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:98513913C>T	uc010bom.3	+	6	1299	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	ARRDC4_uc002bui.4_Silent_p.C293C	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	380					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			GAGAAGTGTGCTGTCCTGTGT	0.418000														102			13		0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50648614	50648614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50648614C>T	uc021wry.1	+	3	1002	c.944C>T	c.(943-945)aCg>aTg	p.T315M	SELO_uc010hap.3_Missense_Mutation_p.T126M|SELO_uc003bjy.3_5'UTR	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	315													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCCCAGGTGACGCGGCGCACG	0.662000											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			22		0	0	1	0	0
APAF1	317	broad.mit.edu	37	12	99059345	99059345	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99059345G>A	uc001tfz.3	+	7	1547	c.970G>A	c.(970-972)Gta>Ata	p.V324I	APAF1_uc001tfy.3_Missense_Mutation_p.V313I|APAF1_uc001tga.3_Missense_Mutation_p.V313I|APAF1_uc001tgb.3_Missense_Mutation_p.V324I|APAF1_uc001tgc.3_Intron	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	324	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCCTTGTAGTATCTTTAAT	0.343000														111			27		0	0	1	0	0
EMX2	2018	broad.mit.edu	37	10	119302963	119302963	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119302963G>A	uc001ldh.4	+	0	1008	c.185G>A	c.(184-186)gGc>gAc	p.G62D	EMX2OS_uc001ldf.3_5'Flank|EMX2OS_uc001ldg.3_Intron|EMX2_uc001ldi.4_Missense_Mutation_p.G62D	NM_004098	NP_004089	Q04743	EMX2_HUMAN	Homo sapiens empty spiracles homeobox 2 (EMX2), transcript variant 1, mRNA.	62						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		gccggTAGGGGCGTCTACTCC	0.721000														73			21		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137765648	137765648	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137765648C>A	uc003lcy.1	+	20	5087	c.4887C>A	c.(4885-4887)ctC>ctA	p.L1629L	KDM3B_uc010jew.1_Silent_p.L1285L|KDM3B_uc011cys.1_Silent_p.L661L	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1629	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GGGAGCTGCTCCGAAAGGTAC	0.527000														68			19		1.56452e-12	1.80666e-12	1	1	0
ABAT	18	broad.mit.edu	37	16	8829607	8829607	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8829607T>G	uc002czc.4	+	1	177	c.11T>G	c.(10-12)aTg>aGg	p.M4R	ABAT_uc002czd.4_Missense_Mutation_p.M4R|ABAT_uc010buh.3_5'UTR|ABAT_uc010bui.3_Missense_Mutation_p.M4R	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	4					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	ATGGCCTCCATGTTGCTCGCC	0.587000														25			5		0	0	1	0	0
CYP2J2	1573	broad.mit.edu	37	1	60377927	60377927	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:60377927C>T	uc001czq.3	-	2	435	c.430G>A	c.(430-432)Gca>Aca	p.A144T		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	144					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)					TTCCTTAGTGCTGTCAGAGTG	0.438000														149			14		0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38791016	38791016	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:38791016C>A	uc001zke.4	-	14	2030	c.1852G>T	c.(1852-1854)Gga>Tga	p.G618*	RASGRP1_uc010bbe.3_Non-coding_Transcript|RASGRP1_uc010bbf.3_Nonsense_Mutation_p.G445*|RASGRP1_uc010bbg.3_Intron|RASGRP1_uc001zkd.4_Nonsense_Mutation_p.G583*	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	618					Ras protein signal transduction|cell differentiation|platelet activation|regulation of small GTPase mediated signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTTTGGCTCCCAATGAGCAA	0.468000														175			36		1.36615e-20	1.66935e-20	1	1	0
GINS3	64785	broad.mit.edu	37	16	58438412	58438412	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58438412G>A	uc002enh.4	+	2	638	c.430G>A	c.(430-432)Gga>Aga	p.G144R	GINS3_uc010cdj.3_Missense_Mutation_p.G183R|GINS3_uc002enj.4_Missense_Mutation_p.G66R	NM_022770	NP_073607	Q9BRX5	PSF3_HUMAN	Homo sapiens GINS complex subunit 3 (Psf3 homolog) (GINS3), transcript variant 2, mRNA.	144					DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						GACTTTTATCGGACGTTTTCG	0.463000														85			25		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134627697	134627697	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134627697C>T	uc021qbc.1	-	53	7448	c.7347G>A	c.(7345-7347)acG>acA	p.T2449T		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	610										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCCATCGCGACGTGAATGTGT	0.557000														69			13		0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885223	50885223	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50885223G>T	uc010ona.2	-	1	839	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	DMRTA2_uc010onb.2_Missense_Mutation_p.S248Y	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	248	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GGGCGAACCAGAAAAGGACTC	0.721000														51			5		0.000602214	0.000618135	1	1	0
DCDC5	100506627	broad.mit.edu	37	11	30914541	30914541	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30914541G>A	uc009yjk.1	-	23	3310	c.3241C>T	c.(3241-3243)Cac>Tac	p.H1081Y	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.H740Y|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TCAGAAAGGTGTGCCTGTCAA	0.373000														68			28		0	0	1	0	0
RSL24D1	51187	broad.mit.edu	37	15	55483181	55483181	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55483181T>A	uc002acn.3	-	2	403	c.260A>T	c.(259-261)aAt>aTt	p.N87I		NM_016304	NP_057388	Q9UHA3	RLP24_HUMAN	Homo sapiens ribosomal L24 domain containing 1 (RSL24D1), mRNA.	87					ribosome biogenesis|translation	nucleolus|ribosome	structural constituent of ribosome			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						ACTAGTTTTATTCCATAGCTC	0.313000														28			7		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54966594	54966594	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966594G>T	uc002qfv.1	+	6	906	c.762G>T	c.(760-762)caG>caT	p.Q254H	LENG8_uc002qfw.2_Missense_Mutation_p.Q291H			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	254							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		ACTGGCCCCAGGACATGAAAG	0.632000														102			32		1.06801e-11	1.22009e-11	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66455061	66455061	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66455061G>A	uc001ojd.3	-	33	6631	c.6559C>T	c.(6559-6561)Cgg>Tgg	p.R2187W	SPTBN2_uc001ojc.1_Silent_p.L47L	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2187					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCGGGCCCCGAGTCCGGGTC	0.672000														112			14		0	0	1	0	0
SLC25A35	399512	broad.mit.edu	37	17	8197811	8197811	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8197811G>A	uc002gku.1	-	0	360	c.315C>T	c.(313-315)agC>agT	p.S105S	SLC25A35_uc002gkt.3_Silent_p.S105S|SLC25A35_uc002gkz.1_Non-coding_Transcript|SLC25A35_uc002gla.4_Silent_p.S105S	NM_201520	NP_958928	Q3KQZ1	S2535_HUMAN	Homo sapiens solute carrier family 25, member 35 (SLC25A35), mRNA.	105					transport	integral to membrane|mitochondrial inner membrane				breast(2)|large_intestine(2)|lung(2)	6						CAGCTGCTGCGCTGCGGGCAG	0.632000														117			17		0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205492385	205492385	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205492385C>A	uc001hcr.3	+	1	352	c.90C>A	c.(88-90)ttC>ttA	p.F30L	CDK18_uc009xbk.2_Intron|CDK18_uc009xbl.2_Non-coding_Transcript|CDK18_uc010pri.2_5'UTR|CDK18_uc001hcp.3_Missense_Mutation_p.F30L|CDK18_uc001hcq.3_Missense_Mutation_p.F30L|CDK18_uc010prj.2_5'UTR|CDK18_uc001hcs.3_5'UTR|CDK18_uc009xbm.1_5'Flank	NM_212503	NP_997668	Q07002	CDK18_HUMAN	Homo sapiens cyclin-dependent kinase 18 (CDK18), transcript variant 1, mRNA.	28							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGGCTGAATTCACGGAGCAAT	0.552000														138			52		1.21353e-23	1.50409e-23	1	1	0
DLX6	1750	broad.mit.edu	37	7	96639182	96639182	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639182C>T	uc022ahu.1	+	2	705	c.705C>T	c.(703-705)agC>agT	p.S235S	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	117					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTCATGAGAGCGACCCCCTCC	0.567000														118			30		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542721	61542721	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542721G>A	uc002ydr.2	-	2	556	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	DIDO1_uc002yds.2_Missense_Mutation_p.R82W|DIDO1_uc002ydt.2_Missense_Mutation_p.R82W|DIDO1_uc002ydu.2_Missense_Mutation_p.R82W|DIDO1_uc002ydv.2_Missense_Mutation_p.R82W|DIDO1_uc002ydw.2_Missense_Mutation_p.R82W|DIDO1_uc002ydx.2_Missense_Mutation_p.R82W|DIDO1_uc011aao.1_Missense_Mutation_p.R82W	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	82					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGCGGCGCCGCGCAATGGTC	0.711000														91			24		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552344	47552344	+	Missense_Mutation	SNP	G	A	A	rs140020002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47552344G>A	uc002zia.1	+	27	3020	c.2938G>A	c.(2938-2940)Gtg>Atg	p.V980M	COL6A2_uc010gqe.2_Non-coding_Transcript	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	980	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGGCAGCGACGTGGACATGGA	0.662000														92			22		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40317623	40317623	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40317623A>G	uc002hzb.2	-	10	2262	c.1929T>C	c.(1927-1929)agT>agC	p.S643S		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	643					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCACATCAGCACTGGTCTTTA	0.597000														132			21		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950279	39950279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950279C>T	uc021olw.1	+	62	17437	c.17437C>T	c.(17437-17439)Cca>Tca	p.P5813S	MACF1_uc021ols.1_Missense_Mutation_p.P5302S|MACF1_uc021olt.1_Missense_Mutation_p.P5305S|MACF1_uc001cde.2_Missense_Mutation_p.P219S|MACF1_uc001cdg.3_Missense_Mutation_p.P133S|MACF1_uc001cdh.3_Missense_Mutation_p.P96S	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7263					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGGTTATCCCATCATCAGG	0.388000														162			17		0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441974	37441974	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37441974G>T	uc002ofc.3	+	6	2437	c.1919G>T	c.(1918-1920)aGa>aTa	p.R640I	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.R639I|ZNF568_uc002ofd.3_Missense_Mutation_p.R576I|ZNF568_uc010efe.3_Missense_Mutation_p.R576I|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGGTGAGAGACACCAAGTA	0.363000														65			8		0.0381472	0.038366	1	1	0
CYP27C1	339761	broad.mit.edu	37	2	127958808	127958808	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:127958808C>T	uc002tod.2	-	2	409	c.278G>A	c.(277-279)aGc>aAc	p.S93N	CYP27C1_uc021vnn.1_Missense_Mutation_p.S93N	NM_001001665	NP_001001665	Q4G0S4	C27C1_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily C, polypeptide 1 (CYP27C1), mRNA.	93						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		CTTGAACATGCTAAACATGAG	0.562000														217			45		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208217871	208217871	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208217871C>T	uc001hgz.3	-	19	4614	c.3856G>A	c.(3856-3858)Gcc>Acc	p.A1286T		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1286					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCCAAGGCCACACGGGAC	0.527000														97			25		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85698636	85698636	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85698636T>C	uc002fix.3	+	11	2734	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	KIAA0182_uc002fiw.3_Missense_Mutation_p.V783A|KIAA0182_uc002fiy.3_Missense_Mutation_p.V814A|KIAA0182_uc002fiz.3_Intron|KIAA0182_uc010cho.3_Missense_Mutation_p.V67A	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	887							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GAGAGACTTGTTGAAATGCTC	0.522000														119			6		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747899	116747899	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747899C>T	uc011ebg.2	+	2	735	c.636C>T	c.(634-636)taC>taT	p.Y212Y	DSE_uc011ebf.1_Silent_p.Y193Y|DSE_uc003pws.3_Silent_p.Y193Y|DSE_uc003pwt.3_Silent_p.Y193Y	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	193					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AAACTTCATACAGGAGAGGAT	0.458000														132			44		0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183699691	183699691	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183699691C>T	uc002upa.2	-	6	1080	c.862_splice	c.e6-1	p.R288_splice		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	288	NTR.				Wnt receptor signaling pathway|brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CATATCCCAGCGCTGTGAAAT	0.428000														88			28		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010534	45010534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010534C>T	uc003tmh.2	-	7	1115	c.971G>A	c.(970-972)cGc>cAc	p.R324H	MYO1G_uc003tmg.2_Missense_Mutation_p.R86H|MYO1G_uc010kym.2_Missense_Mutation_p.R209H|MYO1G_uc003tmi.1_Missense_Mutation_p.R236H|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Missense_Mutation_p.R86H	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	324	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity	p.L323V(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGCAGGGAGCGGAGCACGAG	0.672000														79			8		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234529405	234529405	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234529405C>T	uc001hwd.3	-	26	4422	c.4422G>A	c.(4420-4422)ccG>ccA	p.P1474P		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1474					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.P1474Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			CTAAATTGGTCGGTTTGTCGA	0.453000														86			33		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463972	5463972	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463972C>T	uc003jdm.4	+	12	4747	c.4525C>T	c.(4525-4527)Cgt>Tgt	p.R1509C		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1509										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGATAAGAGTCGTTTGCGAAA	0.428000														53			17		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709106	117709106	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117709106T>G	uc003pxp.1	-	12	2050	c.1851A>C	c.(1849-1851)caA>caC	p.Q617H	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	617	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGGAGGGTCTTGGGTGGATA	0.443000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									193			44		0	0	1	0	0
HIST1H2BF	8343	broad.mit.edu	37	6	26200158	26200158	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26200158C>A	uc003ngx.3	+	0	372	c.372C>A	c.(370-372)agC>agA	p.S124R	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	124					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGTACACCAGCTCTAAGTAAT	0.527000														144			27		9.39395e-14	1.09849e-13	1	1	0
LRP4	4038	broad.mit.edu	37	11	46914620	46914620	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46914620C>A	uc001ndn.4	-	12	1844	c.1601G>T	c.(1600-1602)aGg>aTg	p.R534M		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	534					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CACCTCAATCCTCGAGGTGCC	0.577000														65			18		4.96729e-08	5.40616e-08	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138591671	138591671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138591671C>T	uc011kql.2	-	5	3503	c.3454G>A	c.(3454-3456)Gca>Aca	p.A1152T	KIAA1549_uc011kqj.2_Missense_Mutation_p.A1152T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1152						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCACGCTCTGCGATCTGCAGC	0.473000			O	BRAF	pilocytic astrocytoma									122			28		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992614	176992614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992614C>T	uc001glc.3	-	6	1576	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	ASTN1_uc001glb.1_Missense_Mutation_p.S455N|ASTN1_uc001gld.1_Missense_Mutation_p.S455N|ASTN1_uc009wwx.1_Missense_Mutation_p.S455N|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	455					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGGTCCGCTGGAGTTCTG	0.647000														44			11		0	0	1	0	0
TESC	54997	broad.mit.edu	37	12	117494618	117494618	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117494618C>T	uc001twh.3	-	2	366	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Intron	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	68					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	p.D121N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CACCTGTTGTCGAAGAAGGCA	0.517000														117			21		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48718062	48718062	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48718062C>A	uc001zwx.2	-	59	7600	c.7205_splice	c.e59-1	p.D2402_splice	FBN1_uc010beo.2_Splice_Site	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2402	EGF-like 41; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.?(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCATCGATATCTGTAATTTAA	0.313000														50			13		5.50884e-06	5.8131e-06	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198950755	198950755	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950755C>T	uc010fsp.3	+	1	2912	c.2514C>T	c.(2512-2514)caC>caT	p.H838H	PLCL1_uc002uuv.4_Silent_p.H759H	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	838					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.H740H(2)|p.H838H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TCATGGAGCACGTAACCCTTT	0.458000														109			43		0	0	1	0	0
PRR3	80742	broad.mit.edu	37	6	30530251	30530251	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30530251C>T	uc003nqi.2	+	3	1182	c.546C>T	c.(544-546)ggC>ggT	p.G182G	PRR3_uc003nqj.2_Silent_p.G161G	NM_025263	NP_079539	P79522	PRR3_HUMAN	Homo sapiens proline rich 3 (PRR3), transcript variant 1, mRNA.	182							nucleic acid binding|zinc ion binding			lung(1)|ovary(1)	2						ACCATCCAGGCGTCAATGGAC	0.532000														201			51		0	0	1	0	0
TRIM47	91107	broad.mit.edu	37	17	73871062	73871062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73871062G>A	uc002jpw.3	-	5	1446	c.1419C>T	c.(1417-1419)ggC>ggT	p.G473G	TRIM47_uc002jpv.3_Silent_p.G235G	NM_033452	NP_258411	Q96LD4	TRI47_HUMAN	Homo sapiens tripartite motif containing 47 (TRIM47), mRNA.	473	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCACCCTCGCCCAGCACCT	0.597000														137			27		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	39994291	39994291	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39994291G>A	uc010cxr.3	+	0	249	c.107G>A	c.(106-108)gGc>gAc	p.G36D	NT5C3L_uc021txn.1_5'Flank|NT5C3L_uc021txo.1_5'Flank|NT5C3L_uc002hxy.4_5'Flank|KLHL10_uc010wfv.1_Missense_Mutation_p.G36D|KLHL10_uc010wfw.2_5'UTR	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	36						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGACTAGAGGGCAAGCTCTGC	0.522000														157			41		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652088	1652088	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1652088G>A	uc002qxa.3	-	16	3528	c.3464C>T	c.(3463-3465)gCg>gTg	p.A1155V		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1155					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGATGGCCGCCAGGTCCAG	0.642000														291			22		0	0	1	0	0
SELS	55829	broad.mit.edu	37	15	101813029	101813029	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101813029C>A	uc021sxu.1	-	5	595	c.517G>T	c.(517-519)Gct>Tct	p.A173S	SELS_uc021sxv.1_Missense_Mutation_p.A173S	NM_203472		Q9BQE4	SELS_HUMAN	Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA.	173					ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding					Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGGAGCAAGCTCCGCCTCCT	0.468000														29			6		1.6384e-10	1.84657e-10	1	1	0
BTBD9	114781	broad.mit.edu	37	6	38312855	38312855	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38312855A>C	uc003ooa.4	-	7	1745	c.1169T>G	c.(1168-1170)gTt>gGt	p.V390G	BTBD9_uc010jwv.3_Missense_Mutation_p.V360G|BTBD9_uc003ony.4_Missense_Mutation_p.V322G|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.V390G	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	390					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGAGTCCCAACAATTCGAAT	0.388000														71			19		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773690	35773690	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35773690C>T	uc003olg.1	+	0	620	c.243C>T	c.(241-243)ggC>ggT	p.G81G		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	81						integral to membrane		p.G81V(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCTGCAAGGGCGGCCCCCTAG	0.572000														379			74		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192262	203192262	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192262C>A	uc001gzn.2	-	6	701	c.605_splice	c.e6+1	p.Q202_splice	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Intron|CHIT1_uc009xam.1_Splice_Site|CHIT1_uc009xan.1_Splice_Site|CHIT1_uc001gzo.2_Splice_Site_p.Q193_splice	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	202					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTGAGACTCACTGGGCGATTT	0.562000														267			61		3.36121e-32	4.24214e-32	1	1	0
SOCS6	9306	broad.mit.edu	37	18	67992860	67992860	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:67992860A>C	uc002lkr.1	+	1	1272	c.956A>C	c.(955-957)aAt>aCt	p.N319T	SOCS6_uc010dqq.2_Missense_Mutation_p.N319T|SOCS6_uc021ulj.1_Missense_Mutation_p.N319T	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	319					JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCAATGCAGAATAATCAAATC	0.502000														131			33		0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46129280	46129280	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46129280A>G	uc003oxz.1	-	3	1425	c.1217T>C	c.(1216-1218)gTg>gCg	p.V406A	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Missense_Mutation_p.V312A|ENPP5_uc003oya.1_Missense_Mutation_p.V406A	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	406						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATAAGGGACCACCCTTGGCAT	0.468000														143			37		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182846018	182846018	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182846018T>G	uc001gpr.3	+	18	2353	c.2178T>G	c.(2176-2178)gtT>gtG	p.V726V	DHX9_uc001gps.3_Silent_p.V512V|DHX9_uc001gpt.3_5'Flank	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	726	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGATGTTGTTTATGTCATTG	0.333000														44			13		0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506148	57506148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57506148C>T	uc001nlc.2	+	4	550	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	CTNND1_uc001nlf.2_Intron|TMX2_uc001nld.2_Missense_Mutation_p.R58W|TMX2_uc001nle.2_Missense_Mutation_p.R114W|TMX2_uc021qji.1_Non-coding_Transcript|C11orf31_uc021qjj.1_5'Flank	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	152	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						GGAACTAGAACGGGACAAGAG	0.473000														168			30		0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50071220	50071220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50071220G>A	uc002xwd.3	-	5	1934	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R572*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R353*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R353*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R552*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R552*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R353*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R353*|MIR3194_uc021weu.1_5'Flank	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	572	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGAGCAGATCGCTGGGCTGCA	0.502000														212			18		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929587	23929587	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23929587C>A	uc001uon.2	-	7	1753	c.1164G>T	c.(1162-1164)caG>caT	p.Q388H	SACS_uc001uoo.2_Missense_Mutation_p.Q241H|SACS_uc001uop.1_Missense_Mutation_p.Q175H|SACS_uc001uoq.1_Missense_Mutation_p.Q241H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	388					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATGTTTTCTGTGCATCCT	0.383000														128			15		0.00316338	0.00321995	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26443677	26443677	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26443677C>T	uc001isn.2	+	24	3078	c.2718C>T	c.(2716-2718)ggC>ggT	p.G906G	MYO3A_uc009xko.1_Silent_p.G906G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	906	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTCCTTAGGGCGACACTGGAG	0.393000														28			12		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278174	36278174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36278174G>A	uc002obs.2	+	20	2368	c.2224G>A	c.(2224-2226)Gcc>Acc	p.A742T	ARHGAP33_uc002obt.2_Missense_Mutation_p.A767T|ARHGAP33_uc002obv.1_Missense_Mutation_p.A491T	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	794					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGGCCCTGGCCCTGGCTGA	0.692000														132			36		0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309858	45309858	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45309858G>A	uc003bfn.3	-	4	826	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PHF21B_uc011aqk.2_Intron|PHF21B_uc003bfm.3_Intron|PHF21B_uc011aql.2_Intron|PHF21B_uc011aqm.1_Intron	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	225							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		AGATGCCATggaggggtgaag	0.642000														212			41		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34497247	34497247	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34497247G>T	uc003ojo.3	+	4	788	c.530G>T	c.(529-531)aGc>aTc	p.S177I	PACSIN1_uc003ojp.3_Missense_Mutation_p.S177I	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	177					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GAGATGAACAGCAAGACGGAG	0.562000														117			11		3.86212e-05	4.026e-05	1	1	0
RAC2	5880	broad.mit.edu	37	22	37637646	37637646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37637646C>T	uc003arc.3	-	1	205	c.88G>A	c.(88-90)Gga>Aga	p.G30R		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	30					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding	p.P29L(2)|p.P29>?(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						ATGTACTCTCCGGGAAAGGCG	0.617000														160			42		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394796	52394796	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394796C>A	uc002pxy.3	-	4	919	c.593G>T	c.(592-594)aGa>aTa	p.R198I	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGAATTCTCTTATGCTC	0.458000														183			40		1.03484e-13	1.20887e-13	1	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178552119	178552119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178552119C>T	uc003mjw.3	-	18	2915	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	938	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R938S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GCGCACGGAGCGCACCTGCAT	0.687000														487			29		0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73213583	73213583	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73213583G>T	uc004aid.3	-	19	3008	c.2764C>A	c.(2764-2766)Ctg>Atg	p.L922M	TRPM3_uc004ahu.3_Missense_Mutation_p.L752M|TRPM3_uc004ahv.3_Missense_Mutation_p.L724M|TRPM3_uc004ahw.3_Missense_Mutation_p.L794M|TRPM3_uc004ahx.3_Missense_Mutation_p.L781M|TRPM3_uc004ahy.3_Missense_Mutation_p.L784M|TRPM3_uc004ahz.3_Missense_Mutation_p.L771M|TRPM3_uc004aia.3_Missense_Mutation_p.L769M|TRPM3_uc004aib.3_Missense_Mutation_p.L759M|TRPM3_uc004aic.3_Missense_Mutation_p.L922M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	947						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCTGACATCAGAATCTATAAG	0.488000														153			15		6.31663e-08	6.86475e-08	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78680428	78680428	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78680428C>A	uc003dqe.2	-	24	3717	c.3509G>T	c.(3508-3510)aGa>aTa	p.R1170I	ROBO1_uc003dqc.2_Missense_Mutation_p.R1070I|ROBO1_uc003dqd.2_Missense_Mutation_p.R1125I|ROBO1_uc003dqb.2_Missense_Mutation_p.R1131I|ROBO1_uc010hoh.2_Missense_Mutation_p.R362I|ROBO1_uc011bgl.1_Missense_Mutation_p.R742I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1170					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CTTGGGTGTTCTTGCCCCTTT	0.468000														47			5		2.0095e-06	2.13635e-06	1	1	0
ACSM3	6296	broad.mit.edu	37	16	20787326	20787326	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20787326A>G	uc010vba.2	+	1	436	c.361A>G	c.(361-363)Agg>Ggg	p.R121G	ACSM3_uc002dhq.3_Missense_Mutation_p.R129G|ACSM3_uc002dhr.3_Missense_Mutation_p.R129G	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	129					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						GATTCTGCCCAGGGTCCCAGA	0.448000														114			27		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175614714	175614714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175614714C>T	uc002ujd.2	-	7	1115	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.R321H	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	346					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R346L(4)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GCTGGGTGAGCGGTGGTGTGT	0.557000														123			18		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210971047	210971047	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210971047C>A	uc001hib.2	-	8	1888	c.1718G>T	c.(1717-1719)cGc>cTc	p.R573L	KCNH1_uc001hic.2_Missense_Mutation_p.R546L	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	573					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAACACCTTGCGGTTCAGGTG	0.617000														132			26		4.72057e-08	5.14176e-08	1	1	0
MBD5	55777	broad.mit.edu	37	2	149247325	149247325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149247325C>T	uc002twm.4	+	11	4422	c.3425C>T	c.(3424-3426)gCg>gTg	p.A1142V	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.A400V|MBD5_uc002twp.3_Missense_Mutation_p.A192V	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1142						chromosome|nucleus	DNA binding|chromatin binding	p.A1142V(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GCTGTCAGTGCGGTCATTCAT	0.502000														131			50		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23760792	23760792	+	Missense_Mutation	SNP	C	T	T	rs113419927		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23760792C>T	uc001bha.2	-	18	2030	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	ASAP3_uc001bgy.1_Missense_Mutation_p.D140N|ASAP3_uc010odz.1_Missense_Mutation_p.D505N|ASAP3_uc010oea.1_Missense_Mutation_p.D627N	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	636					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TTGAGGCAGTCGGGCTGGTTG	0.582000														156			26		0	0	1	0	0
YWHAE	7531	broad.mit.edu	37	17	1257631	1257631	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1257631C>T	uc002fsj.3	-	4	741	c.589G>A	c.(589-591)Gca>Aca	p.A197T	YWHAE_uc002fsk.3_Missense_Mutation_p.A175T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	197					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		TCAAAAGCTGCTTTTGCCAAC	0.348000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome							52			4		0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827983	1827983	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827983C>T	uc002cmu.3	-	4	650	c.559G>A	c.(559-561)Ggc>Agc	p.G187S	SPSB3_uc002cmt.3_Missense_Mutation_p.G59S|SPSB3_uc010uvm.2_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	187	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						TCATCCCTGCCCAGCAGGCTG	0.697000														129			25		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999114	72999114	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999114G>T	uc002lly.3	+	1	2180	c.1617G>T	c.(1615-1617)caG>caT	p.Q539H	TSHZ1_uc021uln.1_Missense_Mutation_p.Q539H	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	584						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CAGCCTACCAGCTCCCGGGCA	0.637000														158			33		1.62565e-12	1.87665e-12	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21014072	21014072	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21014072G>A	uc010sil.2	+	4	546	c.481_splice	c.e4+1	p.D161_splice	SLCO1B3_uc001rek.3_Splice_Site_p.D161_splice|SLCO1B3_uc001rel.3_Splice_Site_p.D161_splice|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	161					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGTAGAAAAAGGTAAGAATTA	0.264000														49			12		0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6979528	6979528	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6979528T>G	uc001qrk.3	+	6	878	c.842T>G	c.(841-843)aTc>aGc	p.I281S	TPI1_uc010sfo.2_Missense_Mutation_p.I162S	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	244					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCGTGGACATCATCAATGCC	0.577000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		85			16		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633726	106633726	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106633726C>A	uc001tlk.3	-	1	969	c.885G>T	c.(883-885)gaG>gaT	p.E295D		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	295						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AGGTCTGTATCTCCTTCACAG	0.522000														245			49		5.73435e-26	7.15707e-26	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140995998	140995998	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140995998G>A	uc004fbt.3	+	3	3132	c.2808G>A	c.(2806-2808)acG>acA	p.T936T	MAGEC1_uc010nsl.2_Silent_p.T3T|MAGEC1_uc022cfi.1_Silent_p.T595T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	936	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGCTGACGAATGTCATCA	0.468000										HNSCC(15;0.026)				256			56		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306714	5306714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306714G>A	uc003jdl.3	+	20	3422	c.3284G>A	c.(3283-3285)tGc>tAc	p.C1095Y		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	1095	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCAAAGAAGTGCTCACATTTG	0.542000														116			32		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108155556	108155556	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108155556G>A	uc003vff.1	-	3	787	c.380C>T	c.(379-381)gCt>gTt	p.A127V	PNPLA8_uc003vfi.1_Missense_Mutation_p.A27V|PNPLA8_uc003vfh.1_Missense_Mutation_p.A127V|PNPLA8_uc003vfj.1_Missense_Mutation_p.A127V|PNPLA8_uc003vfk.1_Missense_Mutation_p.A27V	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	127					fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CTTAAATTGAGCTAAACGTGA	0.318000														83			7		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101190246	101190246	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101190246C>A	uc001kpr.3	-	0	285	c.77G>T	c.(76-78)aGg>aTg	p.R26M	GOT1_uc009xwi.2_Missense_Mutation_p.R26M	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	26					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)	CGGATCCTCCCTGAAGTCGGC	0.602000														231			48		8.86878e-18	1.06657e-17	1	1	0
ZNF628	89887	broad.mit.edu	37	19	55994536	55994536	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55994536G>A	uc021vbv.1	+	0	1964	c.1964G>A	c.(1963-1965)gGc>gAc	p.G655D	ZNF628_uc002qld.2_Missense_Mutation_p.G655D|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	655	Pro-rich.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCGCCGGCCCCCAGCCC	0.726000														28			8		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531873	140531873	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140531873G>T	uc003lir.3	+	0	2035	c.2035G>T	c.(2035-2037)Gcc>Tcc	p.A679S		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	679					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAAGCCCAGGCCGA	0.697000														432			102		6.23761e-45	7.94716e-45	1	1	0
TPR	7175	broad.mit.edu	37	1	186319457	186319457	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186319457C>A	uc001grv.3	-	20	2971	c.2674G>T	c.(2674-2676)Gaa>Taa	p.E892*	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	892					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTTAATAGTTCTTTTGTGTTA	0.318000			T	NTRK1	papillary thyroid									36			6		0.217242	0.217542	1	1	0
ZNF793	390927	broad.mit.edu	37	19	38028553	38028553	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38028553A>C	uc010efm.3	+	7	1435	c.993A>C	c.(991-993)aaA>aaC	p.K331N	ZNF793_uc010xts.2_Missense_Mutation_p.K331N	NM_001013659	NP_001013681	Q6ZN11	ZN793_HUMAN	Homo sapiens zinc finger protein 793 (ZNF793), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACATCGAAAAATGCACACAG	0.453000														50			7		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588685	153588685	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153588685C>A	uc004fkk.2	-	21	3727	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1160S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1160					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)					ACTTTGGATGCGTCAAAGCAG	0.652000											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		125			38		1.30091e-30	1.6392e-30	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096291	167096291	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167096291G>A	uc001geb.1	+	4	1939	c.1923G>A	c.(1921-1923)caG>caA	p.Q641Q		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	641					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGGAGAGCCAGTCTATGGCAA	0.637000														65			13		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8636735	8636735	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636735G>A	uc003zkk.3	-	12	917	c.174C>T	c.(172-174)aaC>aaT	p.N58N	PTPRD_uc003zkp.3_Silent_p.N58N|PTPRD_uc003zkq.3_Silent_p.N58N|PTPRD_uc003zkr.3_Silent_p.N58N|PTPRD_uc003zks.3_Silent_p.N58N|PTPRD_uc022bdj.1_Silent_p.N58N|PTPRD_uc003zkt.1_Silent_p.N58N	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	58	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCTTTTTTGTTCCAGACAA	0.458000										TSP Lung(15;0.13)				145			26		0	0	1	0	0
ADH5	128	broad.mit.edu	37	4	99998042	99998042	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99998042C>T	uc003hui.3	-	4	457	c.377G>A	c.(376-378)gGt>gAt	p.G126D	ADH5_uc003huk.1_Missense_Mutation_p.G126D	NM_000671	NP_000662	P11766	ADHX_HUMAN	Homo sapiens alcohol dehydrogenase 5 (class III), chi polypeptide (ADH5), mRNA.	126					ethanol oxidation|response to redox state		S-(hydroxymethyl)glutathione dehydrogenase activity|alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	TCTGCTGGTACCATCTGGCAT	0.368000														33			3		0	0	1	0	0
KLHDC3	116138	broad.mit.edu	37	6	42986629	42986629	+	Silent	SNP	G	A	A	rs34597116		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42986629G>A	uc003otl.3	+	7	1154	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RRP36_uc003otp.1_5'Flank|KLHDC3_uc003otn.3_Silent_p.P167P|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Silent_p.P268P|KLHDC3_uc003oto.3_Silent_p.P224P	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	283					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGATTGAACCGAAGGGGAAGG	0.522000														224			53		0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14501839	14501839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14501839G>A	uc002myl.3	+	3	674	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CD97_uc002mym.3_Silent_p.E98E|CD97_uc002myn.3_Silent_p.E98E	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	98	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CGGGATATGAGCCTGTTTCTG	0.527000														147			25		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891833	18891833	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891833G>A	uc001rdy.3	+	0	789	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	211					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GGACCTGAAAGAAAGCTTGGA	0.398000														75			12		0	0	1	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68045259	68045259	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68045259G>A	uc001xjl.1	+	19	2902	c.2760G>A	c.(2758-2760)caG>caA	p.Q920Q	PLEKHH1_uc010tsw.1_Silent_p.Q488Q|PLEKHH1_uc001xjn.1_Silent_p.Q435Q|PLEKHH1_uc010tsx.1_5'UTR|PLEKHH1_uc001xjo.1_5'Flank|PLEKHH1_uc001xjp.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	920	MyTH4.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGTGCTGGCAGCTCCTCGCTC	0.582000														22			3		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66420804	66420804	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66420804C>T	uc002eom.4	+	2	459	c.303C>T	c.(301-303)gaC>gaT	p.D101D	CDH5_uc002eon.1_Silent_p.D101D	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	101	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAGGAGACGTGTTCGCCA	0.512000														65			11		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173830410	173830410	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173830410C>T	uc002uhv.4	+	9	1007	c.820_splice	c.e9+1	p.V274_splice	RAPGEF4_uc002uhu.2_Splice_Site_p.V274_splice|RAPGEF4_uc002uhw.4_Splice_Site_p.V130_splice|RAPGEF4_uc010zec.1_Splice_Site_p.V121_splice|RAPGEF4_uc010zed.1_Splice_Site_p.V103_splice|RAPGEF4_uc010zee.1_Splice_Site_p.V121_splice|RAPGEF4_uc010fqo.2_Splice_Site_p.V103_splice|RAPGEF4_uc010zef.1_Splice_Site_p.V54_splice|RAPGEF4_uc010zeg.1_Splice_Site_p.V101_splice|RAPGEF4_uc010fqp.1_Splice_Site_p.V54_splice|RAPGEF4_uc010zeh.1_Splice_Site_p.V54_splice	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	274	DEP.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTCTCAACCACGGTAAGATGA	0.483000														159			8		0	0	1	0	0
KLF4	9314	broad.mit.edu	37	9	110249902	110249902	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:110249902C>T	uc004bdh.3	-	2	1367	c.746G>A	c.(745-747)aGc>aAc	p.S249N	KLF4_uc004bdf.2_Missense_Mutation_p.S208N|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.S258N	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	258	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACCGGGTGGCTGCCGTCAGG	0.687000														51			10		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537124	5537124	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537124C>T	uc001maz.4	-	0	833	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	183										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGACAGAAGCCGCTGGATGCT	0.493000														206			9		0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222294720	222294720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222294720C>T	uc002vmq.3	-	14	2690	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H	EPHA4_uc002vmr.2_Missense_Mutation_p.R883H|EPHA4_uc010zlm.1_Missense_Mutation_p.R824H	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	883						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTTGGGGTTGCGGATGAGTTT	0.512000														281			43		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631371	91631371	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631371T>A	uc003ulg.3	+	7	2365	c.2140T>A	c.(2140-2142)Tca>Aca	p.S714T	AKAP9_uc003ule.2_Missense_Mutation_p.S726T|AKAP9_uc003ulf.3_Missense_Mutation_p.S714T|AKAP9_uc003uli.3_Missense_Mutation_p.S339T	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	726	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.L714L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAATTCAAAGTCAGAAGAAAT	0.299000			T	BRAF	papillary thyroid									39			6		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62283994	62283994	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62283994C>A	uc002agz.3	-	16	1452	c.1361G>T	c.(1360-1362)cGg>cTg	p.R454L	VPS13C_uc002aha.3_Missense_Mutation_p.R411L|VPS13C_uc002ahb.2_Missense_Mutation_p.R454L|VPS13C_uc002ahc.2_Missense_Mutation_p.R411L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	454					protein localization			p.R454W(1)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTGCCCAGACCGAATCACCTG	0.373000														186			14		0.000151284	0.000156809	1	1	0
FAM83A	84985	broad.mit.edu	37	8	124219674	124219674	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124219674G>A	uc003ypv.3	+	4	3065	c.1051G>A	c.(1051-1053)Gcg>Acg	p.A351T	FAM83A_uc003ypw.3_Intron|FAM83A_uc003ypx.3_Missense_Mutation_p.A351T|FAM83A_uc003ypy.3_Intron|FAM83A_uc003ypz.3_Intron	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	351	Ser-rich.							p.A351V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAGTGTGTCCGCGTCTTCAGG	0.731000														68			14		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	655986	655986	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:655986C>T	uc003gap.3	+	12	1731	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C	PDE6B_uc003gao.4_Missense_Mutation_p.R560C|PDE6B_uc011buy.2_Missense_Mutation_p.R281C|PDE6B_uc011buz.2_5'UTR	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	560					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCACAACTGGCGCCACGGCTT	0.622000														22			5		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900714	51900714	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900714G>T	uc002iua.2	+	0	476	c.320G>T	c.(319-321)aGg>aTg	p.R107M	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	107					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCGGCCATCAGGGACCAGCGT	0.607000														312			71		5.80444e-35	7.3496e-35	1	1	0
GSDMD	79792	broad.mit.edu	37	8	144643581	144643581	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144643581C>T	uc003yyf.3	+	6	911	c.868C>T	c.(868-870)Cca>Tca	p.P290S	GSDMD_uc010mfe.3_Missense_Mutation_p.P242S|GSDMD_uc003yyi.3_3'UTR|GSDMD_uc003yyg.3_Missense_Mutation_p.P242S|GSDMD_uc003yyh.3_Missense_Mutation_p.P173S	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	242										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACCTTCCAGCCACCCGCGAC	0.617000														37			14		0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42273420	42273420	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42273420A>G	uc002iga.3	-	5	596	c.505T>C	c.(505-507)Tca>Cca	p.S169P	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Missense_Mutation_p.S176P	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	169					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTTTTAATGACTTGGATCTT	0.537000														117			13		0	0	1	0	0
ZNF517	340385	broad.mit.edu	37	8	146033667	146033667	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146033667G>A	uc003zed.1	+	4	1473	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	ZNF517_uc010mgd.1_Missense_Mutation_p.A362T|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Missense_Mutation_p.A362T|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			CCGGTGCCGCGCCTGCGGGAG	0.721000														31			10		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777432	57777432	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777432G>T	uc003hch.3	+	1	975	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	REST_uc003hci.3_Missense_Mutation_p.D210Y|REST_uc003hcj.1_Missense_Mutation_p.D210Y|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	210					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGAAGAGGGAGATTTCTCCAA	0.493000														95			15		0.000308642	0.000318063	1	1	0
MYCBP2	23077	broad.mit.edu	37	13	77779470	77779470	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77779470C>T	uc021rks.1	-	25	4031	c.3764G>A	c.(3763-3765)cGt>cAt	p.R1255H	MYCBP2_uc010aev.3_Missense_Mutation_p.R621H	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCACTGAAACGTATAGCTTC	0.358000														86			16		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519119	64519119	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64519119G>T	uc001xgl.3	+	47	8718	c.8488G>T	c.(8488-8490)Gaa>Taa	p.E2830*	SYNE2_uc001xgm.3_Nonsense_Mutation_p.E2830*|SYNE2_uc021ruh.1_Nonsense_Mutation_p.E2863*	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2830					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACAGCAATTAGAATTTAAGTT	0.343000														77			21		3.51602e-12	4.04451e-12	1	1	0
ATP12A	479	broad.mit.edu	37	13	25268581	25268581	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25268581G>T	uc010aaa.3	+	11	1729	c.1396_splice	c.e11-1	p.K466_splice	ATP12A_uc001upp.3_Splice_Site_p.K460_splice	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	460					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTGATTCCCAGAAAGCTGTGA	0.403000											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		144			31		1.08312e-15	1.2841e-15	1	1	0
ZEB2	9839	broad.mit.edu	37	2	145161567	145161567	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145161567A>G	uc002tvu.3	-	5	1245	c.723T>C	c.(721-723)ttT>ttC	p.F241F	ZEB2_uc010zbm.2_Silent_p.F217F|ZEB2_uc002tvv.3_Silent_p.F235F|ZEB2_uc010fnp.3_Silent_p.F149F|ZEB2_uc010fnq.1_Silent_p.F270F	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	241						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGGGCAGGAAAAGTTCTCTT	0.562000														238			29		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256686	140256686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140256686G>A	uc003lic.2	+	0	1756	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	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_Silent_p.P543P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGTGCCGCCTCTGGGCA	0.701000														475			110		0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100444940	100444940	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100444940C>T	uc001tgq.3	-	15	3713	c.3484G>A	c.(3484-3486)Gca>Aca	p.A1162T	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.A812T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1162										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTAGGTTTGCACCAGCATTC	0.353000														89			24		0	0	1	0	0
P2RX6	9127	broad.mit.edu	37	22	21380774	21380774	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21380774A>G	uc010gsu.1	+	11	1194	c.1194A>G	c.(1192-1194)cgA>cgG	p.R398R	P2RX6_uc002ztz.2_Silent_p.R372R|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	398					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										CCCAAGCCCGACTGGCCGAGT	0.632000														23			5		0	0	1	0	0
IL17C	27189	broad.mit.edu	37	16	88706264	88706264	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88706264C>T	uc002fla.3	+	2	427	c.378C>T	c.(376-378)ttC>ttT	p.F126F		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	126					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGCTGGCCTTCGCCGAGTGCC	0.667000														37			14		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125824589	125824589	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125824589G>T	uc003eim.1	-	21	2823	c.2633C>A	c.(2632-2634)tCt>tAt	p.S878Y	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.S777Y|ALDH1L1_uc003ein.1_Missense_Mutation_p.S413Y	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	878	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCCAAATCCAGACTGTTTGAA	0.493000														195			43		6.4771e-29	8.13877e-29	1	1	0
WDR64	128025	broad.mit.edu	37	1	241959584	241959584	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959584T>G	uc001hzg.2	+	25	3281	c.3074T>G	c.(3073-3075)tTt>tGt	p.F1025C	WDR64_uc021plh.1_Missense_Mutation_p.F652C|WDR64_uc021pli.1_Missense_Mutation_p.F578C	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1025										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AGTCTAAGATTTCTTCCACTG	0.408000														73			30		0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111685171	111685171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111685171G>A	uc004bdm.4	-	5	1023	c.503C>T	c.(502-504)aCa>aTa	p.T168I	IKBKAP_uc011lwc.2_Missense_Mutation_p.T54I|IKBKAP_uc010mtq.3_Intron	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	168					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATGGAACTGTGTCTCCTTCCT	0.398000														147			43		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821797	97821797	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821797G>T	uc003upd.2	+	10	2313	c.2020G>T	c.(2020-2022)Gat>Tat	p.D674Y		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	674					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TTCCAGTTTGGATAACCCCAA	0.408000														177			52		2.01807e-28	2.53331e-28	1	1	0
MTL5	9633	broad.mit.edu	37	11	68517673	68517673	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68517673G>A	uc001ooc.3	-	1	596	c.456C>T	c.(454-456)ggC>ggT	p.G152G	MTL5_uc001ood.1_Silent_p.G152G|MTL5_uc009ysi.1_Silent_p.G152G|MTL5_uc001ooe.3_Silent_p.G152G	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	152					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TCATGCGGACGCCCGGGTGGG	0.667000														34			5		0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119211264	119211264	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119211264A>C	uc003ecm.3	+	10	1242	c.1158A>C	c.(1156-1158)aaA>aaC	p.K386N	POGLUT1_uc011bja.2_Missense_Mutation_p.K227N	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	Homo sapiens protein O-glucosyltransferase 1 (POGLUT1), transcript variant 1, mRNA.	386						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						TTATTCCCAAAATGTTGAAAA	0.383000														71			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497134	179497134	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179497134C>A	uc021vsy.1	-	184	36008	c.35783G>T	c.(35782-35784)cGg>cTg	p.R11928L	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R5623L|TTN_uc021vta.1_Missense_Mutation_p.R5556L|TTN_uc021vtb.1_Missense_Mutation_p.R5431L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12855	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATTTGAGCCGGATTCCTAT	0.343000														26			5		0.184627	0.184976	1	1	0
ZNF329	79673	broad.mit.edu	37	19	58639295	58639295	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58639295G>T	uc002qrn.3	-	3	1813	c.1576C>A	c.(1576-1578)Ctt>Att	p.L526I	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Missense_Mutation_p.L526I	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGTCGAACAAGGGATGAGCTC	0.512000														199			49		2.22293e-35	2.81567e-35	1	1	0
MUT	4594	broad.mit.edu	37	6	49427082	49427082	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:49427082A>G	uc003ozg.4	-	1	363	c.98T>C	c.(97-99)cTa>cCa	p.L33P		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	33					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCTGGTGTAGAAGTCGTTG	0.483000														119			16		0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78221419	78221419	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78221419G>T	uc010tvn.1	-	1	86	c.59C>A	c.(58-60)gCt>gAt	p.A20D	SNW1_uc001xuf.3_Missense_Mutation_p.A20D|SNW1_uc010tvm.2_5'UTR			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	20					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CTTTTCTTCAGCCTCAAGCTG	0.453000														52			6		0.00198382	0.00202356	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33565843	33565843	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33565843G>A	uc002xbi.2	+	4	478	c.161G>A	c.(160-162)cGc>cAc	p.R54H	MYH7B_uc010gfa.1_Missense_Mutation_p.R12H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	12						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGTCTGCCCGCTACCTCCGC	0.607000														207			46		0	0	1	0	0
C9orf37	85026	broad.mit.edu	37	9	140510210	140510210	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140510210G>A	uc004cnz.3	-	2	1026	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	ARRDC1_uc004cnp.2_3'UTR|ARRDC1_uc004cnx.2_3'UTR	NM_032937	NP_116326	Q9H2J1	CI037_HUMAN	Homo sapiens chromosome 9 open reading frame 37 (C9orf37), mRNA.	148										breast(1)|large_intestine(2)	3	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGGTCCCTCCGACAGGAGACC	0.672000														71			14		0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5047658	5047658	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5047658C>T	uc010xim.2	+	4	712	c.604C>T	c.(604-606)Cac>Tac	p.H202Y	KDM4B_uc010xil.1_Missense_Mutation_p.H202Y|KDM4B_uc002mbq.4_Missense_Mutation_p.H202Y	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	202	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAACTACCTGCACTTTGGGGA	0.632000														170			37		0	0	1	0	0
ACOX3	8310	broad.mit.edu	37	4	8396442	8396442	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8396442C>T	uc010idk.3	-	9	1229	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	ACOX3_uc003glc.4_Missense_Mutation_p.A362T|ACOX3_uc003gld.4_Missense_Mutation_p.A362T	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	362					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCGTAGACAGCTGCCAGATAT	0.572000														53			12		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79655978	79655978	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79655978C>A	uc011dyp.2	-	38	4594	c.4368_splice	c.e38-1	p.S1456_splice	PHIP_uc003piq.3_Splice_Site_p.S481_splice|PHIP_uc003pir.3_Splice_Site_p.S1457_splice|IRAK1BP1_uc010kbg.1_Non-coding_Transcript|PHIP_uc003pio.4_Splice_Site_p.S343_splice	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1457					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCTTTCAGGGCTGTAAATAAA	0.328000														111			26		1.5548e-18	1.87917e-18	1	1	0
SF3A1	10291	broad.mit.edu	37	22	30735152	30735152	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30735152G>A	uc003ahl.3	-	9	1596	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	SF3A1_uc021wnt.1_Silent_p.I423I	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	488					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCCTCACCGATCTTCTTAC	0.517000														257			56		0	0	1	0	0
PGM1	5236	broad.mit.edu	37	1	64120045	64120045	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64120045C>T	uc010ooz.2	+	9	1806	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	PGM1_uc001dbh.3_Nonsense_Mutation_p.R503*|PGM1_uc010ooy.2_Nonsense_Mutation_p.R306*	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	503					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AATCGTCTTCCGACTGAGCGG	0.532000														73			30		0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29454915	29454915	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29454915C>A	uc011dlq.2	-	0	765	c.765G>T	c.(763-765)caG>caT	p.Q255H		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	255						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCTTTTGCTGCTGGGAGCAGC	0.522000														68			19		8.34094e-07	8.90579e-07	1	1	0
WDR1	9948	broad.mit.edu	37	4	10080531	10080531	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10080531A>G	uc021xlv.1	-	11	1662	c.1379T>C	c.(1378-1380)gTg>gCg	p.V460A	WDR1_uc021xlw.1_Missense_Mutation_p.V320A|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	460					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCAATTGCCACCGTGTCCCC	0.597000														97			22		0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88958032	88958032	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88958032G>C	uc004aou.3	-	5	1182	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.F348L|ZCCHC6_uc004aot.3_Missense_Mutation_p.F348L|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.F348L|ZCCHC6_uc004aow.3_Missense_Mutation_p.F348L	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	348					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						CCGAATTTTTGAAACCCAATC	0.308000														79			16		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88482594	88482594	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88482594T>G	uc002ssy.4	+	6	2768	c.1077_splice	c.e6+2	p.K359_splice	THNSL2_uc002ssw.4_Splice_Site_p.K359_splice|THNSL2_uc002sta.4_Splice_Site_p.K201_splice|THNSL2_uc010fhe.3_Splice_Site_p.K201_splice|THNSL2_uc021vkr.1_Splice_Site_p.K359_splice	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	359					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						CACAGCAAGGTCAGTCACTAC	0.527000														79			16		0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46404623	46404623	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46404623G>A	uc002pdt.3	-	1	496	c.409C>T	c.(409-411)Cct>Tct	p.P137S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	137	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GGGGCCGCAGGGGGCTCCTCC	0.711000														13			4		0	0	1	0	0
PEX3	8504	broad.mit.edu	37	6	143780343	143780343	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143780343C>T	uc003qjl.3	+	1	457	c.195C>T	c.(193-195)tgC>tgT	p.C65C	PEX3_uc011edx.1_Silent_p.C65C	NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	65					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		AGAGGACTTGCAATATGACAG	0.378000														145			28		0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50905844	50905844	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50905844C>A	uc003blh.3	-	4	667	c.472G>T	c.(472-474)Gag>Tag	p.E158*	SBF1_uc011arx.2_5'Flank|SBF1_uc003bli.2_Nonsense_Mutation_p.E159*	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	158	DENN.				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)		TTCAGGCCCTCCACGTGGATG	0.627000														258			69		5.26073e-25	6.54865e-25	1	1	0
FMNL2	114793	broad.mit.edu	37	2	153484903	153484903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:153484903C>T	uc002tye.3	+	17	2623	c.2256C>T	c.(2254-2256)taC>taT	p.Y752Y	FMNL2_uc010fob.3_Silent_p.Y208Y|FMNL2_uc002tyf.3_Silent_p.Y201Y	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	752	FH2.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TTCGGCTCTACGAGCGGGAAA	0.458000														146			30		0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20133266	20133266	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20133266C>T	uc002rdi.3	-	22	2695	c.2587G>A	c.(2587-2589)Gca>Aca	p.A863T	WDR35_uc002rdj.3_Missense_Mutation_p.A852T|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_Intron	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA.	863										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACATTTGTGCTATTTCCTGT	0.353000														49			19		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119337965	119337965	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119337965C>A	uc003pyj.3	-	4	1825	c.1477G>T	c.(1477-1479)Gca>Tca	p.A493S	FAM184A_uc003pyk.4_Missense_Mutation_p.A373S|FAM184A_uc003pyl.4_Missense_Mutation_p.A373S	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	493										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTTCAATTGCCATATGGTGC	0.348000														74			14		9.31168e-06	9.81217e-06	1	1	0
KIF13B	23303	broad.mit.edu	37	8	28976427	28976427	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28976427C>A	uc003xhh.4	-	29	3677	c.3618G>T	c.(3616-3618)gaG>gaT	p.E1206D	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1206					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAAAGAACTCCTCTTCTTCTT	0.458000														166			26		5.61819e-17	6.72451e-17	1	1	0
MGA	23269	broad.mit.edu	37	15	42058209	42058209	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42058209C>T	uc010ucy.2	+	23	8110	c.7929C>T	c.(7927-7929)gaC>gaT	p.D2643D	MGA_uc010ucz.2_Silent_p.D2434D	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2604						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGAAAATGACGACTTATTTA	0.353000														103			6		0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20199174	20199174	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20199174G>A	uc003sus.4	-	4	1119	c.810C>T	c.(808-810)agC>agT	p.S270S	MACC1_uc010kug.3_Silent_p.S270S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	270					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAACAACGGGCTCACAGTGC	0.478000														104			23		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77762534	77762534	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77762534C>A	uc003yau.2	+	8	4287	c.3900C>A	c.(3898-3900)gcC>gcA	p.A1300A	ZFHX4_uc003yaw.1_Silent_p.A1255A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1255						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCAGCTGCCTCTGAGAAAT	0.478000										HNSCC(33;0.089)				45			11		0.00185496	0.00189487	1	1	0
CDRT4	284040	broad.mit.edu	37	17	15341153	15341153	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341153G>T	uc002gop.2	-	3	674	c.393C>A	c.(391-393)aaC>aaA	p.N131K	CDRT4_uc021tqm.1_Missense_Mutation_p.N131K|FAM18B2_uc010vvx.2_3'UTR|FAM18B2_uc010vvw.2_3'UTR	NM_001204477	NP_001191406	Q8N9R6	CDRT4_HUMAN	Homo sapiens CMT1A duplicated region transcript 4 (CDRT4), mRNA.	131										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		TCTTGTTATAGTTTTCAGTTG	0.478000														77			19		1.67942e-08	1.84125e-08	1	1	0
C1orf187	374946	broad.mit.edu	37	1	11766469	11766469	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11766469C>A	uc001asr.1	+	1	294	c.154C>A	c.(154-156)Cct>Act	p.P52T		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	52					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		GCTGTGGACGCCTCAGGCCAG	0.726000														66			20		3.62473e-10	4.06567e-10	1	1	0
BHLHE23	128408	broad.mit.edu	37	20	61637625	61637625	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61637625G>T	uc002yeb.2	-	0	763	c.454C>A	c.(454-456)Ctc>Atc	p.L152I		NM_080606	NP_542173	Q8NDY6	BHE23_HUMAN	Homo sapiens basic helix-loop-helix family, member e23 (BHLHE23), mRNA.	152	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						GCCTGCATGAGGATATAGTTC	0.697000														64			8		1.06961e-07	1.15953e-07	1	1	0
PDZK1	5174	broad.mit.edu	37	1	145748564	145748564	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145748564G>A	uc001eon.2	+	3	594	c.437G>A	c.(436-438)gGc>gAc	p.G146D	PDZK1_uc001eoo.2_Missense_Mutation_p.G146D|PDZK1_uc010oza.2_Missense_Mutation_p.G146D	NM_002614	NP_002605	Q5T2W1	NHRF3_HUMAN	Homo sapiens PDZ domain containing 1 (PDZK1), transcript variant 1, mRNA.	146	PDZ 2.				carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGCAGCTATGGCTTCTCTCTG	0.522000														134			36		0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108840900	108840900	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108840900G>A	uc003psj.3	+	12	1390	c.1204_splice	c.e12-1	p.V402_splice		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	402							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TCTATTTCAGGTGCGTATAAT	0.348000														80			13		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322075	152322075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152322075C>T	uc002txm.3	+	29	6202	c.6041C>T	c.(6040-6042)aCg>aTg	p.T2014M	RIF1_uc002txn.3_Missense_Mutation_p.T2014M|RIF1_uc002txl.3_Missense_Mutation_p.T2014M|RIF1_uc002txo.3_Missense_Mutation_p.T2014M|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2014	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTGAAGAAACGAATACCAAA	0.398000														50			7		0	0	1	0	0
CCDC159	126075	broad.mit.edu	37	19	11465331	11465331	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11465331C>T	uc010xlw.1	+	10	1176	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	CCDC159_uc010xlt.2_Missense_Mutation_p.S283F|LPPR2_uc002mre.2_5'Flank|LPPR2_uc002mrf.2_5'Flank	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	398										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGGACCTCTCCCAGCCACCT	0.652000														30			9		0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7950054	7950054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7950054G>A	uc010rbh.2	-	0	156	c.156C>T	c.(154-156)gaC>gaT	p.D52D		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAGGCTCTGGTCTAGGGAGA	0.478000														160			38		0	0	1	0	0
TTC25	83538	broad.mit.edu	37	17	40117142	40117142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40117142G>A	uc002hyj.4	+	10	1554	c.1465G>A	c.(1465-1467)Gct>Act	p.A489T	CNP_uc002hyl.1_5'Flank|CNP_uc010wfz.1_5'Flank|CNP_uc002hym.1_5'Flank|CNP_uc010wga.1_5'Flank	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	547						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGACGATGAGGCTTTTGGGGA	0.542000														18			4		0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129450	76129450	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76129450G>A	uc003keo.3	+	1	1193	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473000														605			113		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544139	82544139	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82544139G>T	uc003uhx.2	-	6	13452	c.13163C>A	c.(13162-13164)aCc>aAc	p.T4388N	PCLO_uc003uhv.2_Missense_Mutation_p.T4388N|PCLO_uc010lec.3_Missense_Mutation_p.T1353N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4319					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATCCCTGGTGTCTGCAGA	0.532000														84			15		1.49906e-05	1.573e-05	1	1	0
PCDP1	200373	broad.mit.edu	37	2	120362359	120362359	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120362359G>T	uc002tmb.3	+	9	1157	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDP1_uc010yyq.2_Missense_Mutation_p.Q145H	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	301						cilium	calmodulin binding					Colorectal(110;0.196)					CGAAGCCTCAGAAGGTGAAGG	0.453000														105			42		3.43241e-23	4.24696e-23	1	1	0
TTC17	55761	broad.mit.edu	37	11	43418341	43418341	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43418341C>T	uc001mxi.3	+	5	816	c.746C>T	c.(745-747)gCc>gTc	p.A249V	TTC17_uc001mxh.3_Missense_Mutation_p.A249V|TTC17_uc010rfj.2_Missense_Mutation_p.A192V|TTC17_uc001mxj.3_Missense_Mutation_p.A19V	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	249							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAATGTGCCATGCGAGCA	0.393000														49			5		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86800203	86800203	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86800203G>A	uc002blz.1	+	6	797	c.717G>A	c.(715-717)ccG>ccA	p.P239P		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	239					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCTTCCCGGTCCCCGGGT	0.507000														53			11		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184104362	184104362	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184104362C>T	uc003fov.3	+	15	2261	c.2015C>T	c.(2014-2016)cCg>cTg	p.P672L	CHRD_uc003fow.3_Missense_Mutation_p.P302L|CHRD_uc003fox.3_Missense_Mutation_p.P672L|CHRD_uc003foy.3_Missense_Mutation_p.P302L|CHRD_uc010hyc.3_Missense_Mutation_p.P262L|CHRD_uc011brr.2_Intron	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	672					BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTGGGGGCTCCGGATACAGCC	0.716000														34			11		0	0	1	0	0
C1orf53	388722	broad.mit.edu	37	1	197875015	197875015	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197875015T>C	uc001guh.3	+	1	452	c.354T>C	c.(352-354)tcT>tcC	p.S118S		NM_001024594	NP_001019765	Q5VUE5	CA053_HUMAN	Homo sapiens chromosome 1 open reading frame 53 (C1orf53), mRNA.	118										endometrium(1)|lung(1)	2						GTTGTGGCTCTGCGTGCAGAC	0.448000														165			54		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6046333	6046333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6046333C>T	uc001alq.2	-	1	285	c.17G>A	c.(16-18)aGg>aAg	p.R6K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	6					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGAAGATCCTGTGCCAGTC	0.577000														51			6		0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48674663	48674663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48674663C>T	uc011mmi.1	+	17	1704	c.1609C>T	c.(1609-1611)Ctc>Ttc	p.L537F	HDAC6_uc004dks.1_Missense_Mutation_p.L537F|HDAC6_uc010nig.1_Missense_Mutation_p.L385F|HDAC6_uc004dkt.1_Missense_Mutation_p.L537F|HDAC6_uc011mmk.1_Missense_Mutation_p.L518F|HDAC6_uc004dkv.1_Missense_Mutation_p.L185F|HDAC6_uc004dkw.1_Missense_Mutation_p.L185F	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	537	Histone deacetylase 2.				Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGCTGAGCTGCTCACCTGTCA	0.662000														75			23		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184046477	184046477	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184046477C>A	uc003fnp.3	+	26	4283	c.4012C>A	c.(4012-4014)Ctc>Atc	p.L1338I	EIF4G1_uc010hxx.3_Missense_Mutation_p.L1345I|EIF4G1_uc003fnt.3_Missense_Mutation_p.L1049I|EIF4G1_uc010hxy.3_Missense_Mutation_p.L1345I|EIF4G1_uc003fnq.3_Missense_Mutation_p.L1251I|EIF4G1_uc003fnr.3_Missense_Mutation_p.L1174I|EIF4G1_uc003fns.3_Missense_Mutation_p.L1298I|EIF4G1_uc003fnv.4_Missense_Mutation_p.L1339I|EIF4G1_uc003fnw.3_Missense_Mutation_p.L1345I|EIF4G1_uc003fnx.3_Missense_Mutation_p.L1143I	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1338	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.L1338L(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCACGTGTGGCTCTACCTAGC	0.532000														206			44		2.35958e-20	2.88004e-20	1	1	0
TRPM5	29850	broad.mit.edu	37	11	2432869	2432869	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2432869C>T	uc010qxl.2	-	16	2612	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TRPM5_uc001lwm.4_Missense_Mutation_p.R868H|TRPM5_uc009ydn.3_Missense_Mutation_p.R870H	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	868						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GCTCACCATGCGCTCTACCAC	0.662000														164			43		0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778193	44778193	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44778193C>T	uc021uvi.1	+	4	1486	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Silent_p.G275G|ZNF233_uc002oyz.2_Silent_p.G460G	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTGATAAGGGCTTCAGTAAGG	0.418000														115			30		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88890358	88890358	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88890358C>T	uc002stc.4	-	4	1282	c.980G>A	c.(979-981)gGa>gAa	p.G327E		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	327					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TTCCAGATGTCCTCCCTTCTT	0.433000														161			12		0	0	1	0	0
ATP5F1	515	broad.mit.edu	37	1	111999344	111999344	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111999344T>G	uc009wgf.1	+	5	937	c.921T>G	c.(919-921)gtT>gtG	p.V307V	ATP5F1_uc001ebc.3_Silent_p.V160V	NM_001688	NP_001679	P24539	AT5F1_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 (ATP5F1), nuclear gene encoding mitochondrial protein, mRNA.	160					ATP catabolic process|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transporting ATP synthase activity, rotational mechanism|protein binding			breast(1)|cervix(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8		all_cancers(81;8.16e-06)|all_epithelial(167;5.63e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGGCACTGGTTCAGAAGCGCC	0.403000														174			25		0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204553	103204553	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103204553C>T	uc004bay.2	+	0	366	c.333C>T	c.(331-333)atC>atT	p.I111I	MSANTD3-TMEFF1_uc022bkz.1_Silent_p.I111I|MSANTD3-TMEFF1_uc004baw.3_Silent_p.I111I|MSANTD3-TMEFF1_uc022bla.1_Silent_p.I111I|MSANTD3-TMEFF1_uc022blb.1_Silent_p.I111I|MSANTD3-TMEFF1_uc004bax.3_Non-coding_Transcript	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	0	Kazal-like 1.				multicellular organismal development	integral to membrane|plasma membrane		p.I111I(1)									AGGAGAAGATCGCCAGCATGC	0.582000														109			29		0	0	1	0	0
TMED4	222068	broad.mit.edu	37	7	44621144	44621144	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44621144C>T	uc003tli.3	-	2	313	c.291G>A	c.(289-291)gaG>gaA	p.E97E	TMED4_uc003tlj.3_Silent_p.E38E|TMED4_uc003tlk.3_Silent_p.E97E|DQ574505_uc003tll.3_5'Flank	NM_182547	NP_872353	Q7Z7H5	TMED4_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 4 (TMED4), mRNA.	97	GOLD.				positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TGAAGCGGCCCTCCGAGCCGT	0.567000														149			43		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617847	100617847	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100617847C>A	uc001vom.1	-	1	2025	c.1776G>T	c.(1774-1776)ggG>ggT	p.G592G		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	592					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCACTGGAGTCCCCACTGATG	0.577000														220			43		1.41504e-22	1.74518e-22	1	1	0
TBC1D9	23158	broad.mit.edu	37	4	141590134	141590134	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141590134G>A	uc010ioj.3	-	8	1797	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	509						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCAGCTCCCGCGTTTTCTCT	0.562000														70			10		0	0	1	0	0
FOXJ2	55810	broad.mit.edu	37	12	8203160	8203160	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8203160G>A	uc001qtu.3	+	9	2665	c.1580G>A	c.(1579-1581)gGc>gAc	p.G527D		NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	527					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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 factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTCTACCCTGGCCCATCACCA	0.522000														115			20		0	0	1	0	0
SLC24A4	123041	broad.mit.edu	37	14	92790300	92790300	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92790300C>A	uc001yak.3	+	0	149	c.126C>A	c.(124-126)agC>agA	p.S42R	SLC24A4_uc001yai.3_Intron|SLC24A4_uc010twm.2_Missense_Mutation_p.S42R	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 (SLC24A4), transcript variant 1, mRNA.	42						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		TCTTCGGCAGCTTGGGTGGGT	0.657000														49			7		8.12818e-05	8.44191e-05	1	1	0
CUL9	23113	broad.mit.edu	37	6	43182887	43182887	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43182887C>T	uc003ouk.3	+	29	5834	c.5759C>T	c.(5758-5760)gCc>gTc	p.A1920V	CUL9_uc003oul.3_Missense_Mutation_p.A1892V|CUL9_uc010jyk.3_Missense_Mutation_p.A1072V|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1920					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGGGTGTGGCCTGTACCAGT	0.577000														223			47		0	0	1	0	0
UBXN11	91544	broad.mit.edu	37	1	26609059	26609059	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26609059C>T	uc001blw.3	-	16	1566	c.1293_splice	c.e16-1	p.R431_splice	UBXN11_uc001bly.3_Splice_Site_p.R311_splice|UBXN11_uc001blz.1_Splice_Site_p.R398_splice|UBXN11_uc001blx.3_Splice_Site_p.R189_splice|UBXN11_uc001bma.3_Splice_Site_p.R398_splice	NM_183008	NP_892120	Q5T124	UBX11_HUMAN	Homo sapiens UBX domain protein 11 (UBXN11), transcript variant 2, mRNA.	431	UBX.					cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						GCATCCATGACCCTGGGGACC	0.647000														228			23		0	0	1	0	0
LY6K	54742	broad.mit.edu	37	8	143781978	143781978	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143781978C>T	uc011ljv.2	+	0	450	c.33C>T	c.(31-33)gcC>gcT	p.A11A	LY6K_uc011ljw.2_Silent_p.A11A|LY6K_uc011ljx.2_Silent_p.A11A	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	11						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TGGTCGTGGCCCTACCGCGGG	0.701000														21			10		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20156861	20156861	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20156861T>C	uc002gwq.3	+	9	2752	c.2642T>C	c.(2641-2643)gTg>gCg	p.V881A	SPECC1_uc002gws.3_Missense_Mutation_p.V881A|SPECC1_uc002gwv.3_Missense_Mutation_p.V800A|SPECC1_uc010vzf.2_Missense_Mutation_p.V221A	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	881						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGCAGAGGGGTGACTCAACGC	0.468000														65			13		0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129160443	129160443	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129160443G>A	uc010qun.2	+	32	3463	c.3399G>A	c.(3397-3399)caG>caA	p.Q1133Q	DOCK1_uc001ljt.3_Silent_p.Q1112Q|DOCK1_uc009yaq.3_Silent_p.Q107Q	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1112	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ATATGATGCAGTGTGAATTCC	0.488000														52			12		0	0	1	0	0
SEZ6	124925	broad.mit.edu	37	17	27283229	27283229	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27283229T>C	uc002hdp.2	-	15	3094	c.2900A>G	c.(2899-2901)tAc>tGc	p.Y967C	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.Y967C|SEZ6_uc002hdq.1_Missense_Mutation_p.Y842C	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	967						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AATGCGGTTGTAggggcgggg	0.577000														28			10		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121881856	121881856	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121881856G>A	uc001uat.3	-	15	2514	c.2410C>T	c.(2410-2412)Cgg>Tgg	p.R804W	KDM2B_uc010szy.2_Missense_Mutation_p.R244W|KDM2B_uc001uaq.3_Missense_Mutation_p.R244W|KDM2B_uc001uar.3_Missense_Mutation_p.R395W|KDM2B_uc001uas.3_Missense_Mutation_p.R773W|KDM2B_uc021rfd.1_Missense_Mutation_p.R773W|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.R804W|KDM2B_uc001uao.3_Missense_Mutation_p.R52W|KDM2B_uc010szx.2_Missense_Mutation_p.R52W|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	804					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTATTTCCGCTTCTTCCTC	0.657000											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		255			63		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135314112	135314112	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135314112G>A	uc004ezt.3	-	7	1225	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	MAP7D3_uc004ezs.3_Missense_Mutation_p.T300M|MAP7D3_uc011mwc.2_Missense_Mutation_p.T317M|MAP7D3_uc010nsa.2_Missense_Mutation_p.T293M	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	335						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GAATGAGTCCGTGCTCACCTC	0.572000														252			90		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10914364	10914364	+	Splice_Site	SNP	G	A	A	rs147105244		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10914364G>A	uc002yip.1	-	21	1724	c.1356_splice	c.e21+1	p.S452_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S434_splice|TPTE_uc002yir.1_Splice_Site_p.S414_splice|TPTE_uc010gkv.1_Splice_Site_p.S314_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	452	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S434L(1)|p.S452L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTCTTACCGAACATTTTCC	0.323000														46			5		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395671	76395671	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76395671T>C	uc021rkq.1	+	13	2901	c.2566T>C	c.(2566-2568)Tta>Cta	p.L856L	LMO7_uc010thv.2_Silent_p.L574L|LMO7_uc001vjt.1_Silent_p.L522L|LMO7_uc001vjv.3_Silent_p.L623L|LMO7_uc010thw.2_Silent_p.L473L|LMO7_uc001vjw.1_Silent_p.L529L	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	908						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TACAGTCAGGTTAACATCTGT	0.463000														105			7		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433172	40433172	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433172G>A	uc002omp.4	-	1	1105	c.1097C>T	c.(1096-1098)gCt>gTt	p.A366V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	366	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCGCTGATAGCCTTCGTCTG	0.617000														127			11		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119158837	119158837	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158837G>A	uc004bjn.3	+	21	5207	c.4826G>A	c.(4825-4827)cGg>cAg	p.R1609Q	PAPPA_uc011lxq.2_Missense_Mutation_p.R984Q	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGTGCTTGTCGGGACCCCCAG	0.517000														233			34		0	0	1	0	0
SGMS1	259230	broad.mit.edu	37	10	52103414	52103414	+	Missense_Mutation	SNP	G	A	A	rs141885016		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52103414G>A	uc001jje.3	-	6	1415	c.461C>T	c.(460-462)tCg>tTg	p.S154L	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.S154L|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.S154L|SGMS1_uc021pqo.1_Missense_Mutation_p.S154L|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	160					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTGGACGACCGAGATCATCAC	0.507000														95			27		0	0	1	0	0
GPR123	84435	broad.mit.edu	37	10	134884441	134884441	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134884441C>T	uc001llw.3	+	0	9	c.9C>T	c.(7-9)ggC>ggT	p.G3G				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AGATGCGAGGCCACGGGAACC	0.637000														47			5		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36517490	36517490	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36517490C>T	uc010eeq.2	-	3	874	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Missense_Mutation_p.R187Q	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	187					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTCACCTCGCGGCCTCGC	0.667000														80			20		0	0	1	0	0
CNPY1	285888	broad.mit.edu	37	7	155301652	155301652	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155301652T>G	uc003wmc.1	-	1	226	c.81A>C	c.(79-81)aaA>aaC	p.K27N		NM_001103176	NP_001096646	Q3B7I2	CNPY1_HUMAN	Homo sapiens canopy 1 homolog (zebrafish) (CNPY1), mRNA.	27										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTGGTATATTTTGTCTCCTT	0.393000														80			17		0	0	1	0	0
DDX39A	10212	broad.mit.edu	37	19	14521030	14521030	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14521030C>T	uc002myo.3	-	5	848	c.730G>A	c.(730-732)Gat>Aat	p.D244N	DDX39A_uc010xnp.2_Missense_Mutation_p.D244N|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.D244N	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	244	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CTACTCACATCCTGCATGAAC	0.637000														165			34		0	0	1	0	0
USP46	64854	broad.mit.edu	37	4	53468125	53468125	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53468125C>T	uc003gzn.3	-	6	1003	c.818G>A	c.(817-819)cGt>cAt	p.R273H	USP46_uc003gzm.4_Missense_Mutation_p.R266H|USP46_uc011bzr.2_Missense_Mutation_p.R250H|USP46_uc011bzs.2_Missense_Mutation_p.R157H	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	273					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			GAAGACCACACGGTAAGACAG	0.532000														109			29		0	0	1	0	0
ISL2	64843	broad.mit.edu	37	15	76630302	76630302	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76630302A>G	uc002bbw.1	+	1	320	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	81	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						AAGCGGGACTATGTCAGGTGA	0.731000														123			24		0	0	1	0	0
ETV1	2115	broad.mit.edu	37	7	13946113	13946113	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:13946113G>A	uc021zzz.1	-	9	1139	c.1052C>T	c.(1051-1053)tCt>tTt	p.S351F	ETV1_uc021zzt.1_Missense_Mutation_p.S311F|ETV1_uc021zzu.1_Missense_Mutation_p.S248F|ETV1_uc021zzv.1_Missense_Mutation_p.S293F|ETV1_uc021zzw.1_3'UTR|ETV1_uc021zzx.1_3'UTR|ETV1_uc021zzy.1_3'UTR|ETV1_uc022aaa.1_Missense_Mutation_p.S333F|ETV1_uc022aab.1_3'UTR|ETV1_uc003ssw.4_Missense_Mutation_p.S328F|ETV1_uc003ssx.3_Non-coding_Transcript|ETV1_uc022aac.1_3'UTR|ETV1_uc022aad.1_3'UTR|ETV1_uc010ktv.3_3'UTR	NM_004956	NP_004947	P50549	ETV1_HUMAN	Homo sapiens ets variant 1 (ETV1), transcript variant 1, mRNA.	351					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATAAAATGAGAATTTGAAGG	0.433000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""									21			5		0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51889266	51889266	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51889266T>C	uc002lfo.4	+	2	1244	c.1198T>C	c.(1198-1200)Tca>Cca	p.S400P	C18orf54_uc002lfn.4_Missense_Mutation_p.S239P	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	239						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		AGCAGACAGATCATGGGAAAA	0.343000														67			11		0	0	1	0	0
XXYLT1	152002	broad.mit.edu	37	3	194790697	194790697	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194790697A>C	uc003fum.4	-	3	1037	c.929T>G	c.(928-930)cTg>cGg	p.L310R	XXYLT1_uc003ful.3_Missense_Mutation_p.L107R|XXYLT1_uc003fuk.3_Missense_Mutation_p.L104R	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Homo sapiens xyloside xylosyltransferase 1 (XXYLT1), mRNA.	310						integral to membrane	transferase activity, transferring glycosyl groups										CGCCGGCTCCAGCAGGCGGCT	0.687000														174			42		0	0	1	0	0
RNF11	26994	broad.mit.edu	37	1	51736946	51736946	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:51736946C>T	uc001csi.4	+	2	901	c.417C>T	c.(415-417)tgC>tgT	p.C139C		NM_014372	NP_055187	Q9Y3C5	RNF11_HUMAN	Homo sapiens ring finger protein 11 (RNF11), mRNA.	139					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	DNA binding|protein binding|zinc ion binding	p.0?(2)		large_intestine(1)	1						GCCCCTCCTGCATGGAGCCAG	0.468000														100			16		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44108967	44108967	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44108967G>A	uc002ikc.3	-	14	3664	c.3193C>T	c.(3193-3195)Cga>Tga	p.R1065*	KANSL1_uc002ikd.3_Nonsense_Mutation_p.R1065*|KANSL1_uc010dav.3_Nonsense_Mutation_p.R1064*|KANSL1_uc010wkb.2_Nonsense_Mutation_p.R396*|KANSL1_uc010wkc.2_Nonsense_Mutation_p.R333*	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	1065						MLL1 complex	protein binding										GAGGTGCGTCGAGTGCAGCGG	0.687000														111			22		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36771593	36771593	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36771593C>T	uc002rpd.3	+	14	2764	c.2698C>T	c.(2698-2700)Ccc>Tcc	p.P900S		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	900					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCTGGAGGTTCCCCTGTGGCC	0.448000														119			28		0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47645169	47645169	+	Missense_Mutation	SNP	C	A	A	rs143147998		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47645169C>A	uc003gxm.3	-	14	2155	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	CORIN_uc011bzf.2_Missense_Mutation_p.D549Y|CORIN_uc011bzg.2_Missense_Mutation_p.D621Y|CORIN_uc011bzh.1_Missense_Mutation_p.D651Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	688	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TCACCACAGTCCCATTCATCT	0.478000														109			21		3.62473e-10	4.06567e-10	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112476778	112476778	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112476778G>A	uc003pvu.2	-	14	2257	c.1948C>T	c.(1948-1950)Cga>Tga	p.R650*	LAMA4_uc003pvv.2_Nonsense_Mutation_p.R643*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.R643*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	650	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATAAATTCGGTCAGTGGTG	0.373000														125			29		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43693986	43693986	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43693986C>T	uc001zro.3	+	14	1912	c.1672C>T	c.(1672-1674)Cga>Tga	p.R558*	TUBGCP4_uc001zrn.3_Nonsense_Mutation_p.R557*|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	558					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TGAAAGCATCCGATTGGCTCA	0.423000														127			30		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75683558	75683558	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683558A>G	uc010oqz.1	-	16	1800	c.1734T>C	c.(1732-1734)cgT>cgC	p.R578R	SLC44A5_uc001dgt.2_Silent_p.R539R|SLC44A5_uc001dgs.2_Silent_p.R497R|SLC44A5_uc001dgr.2_Silent_p.R497R|SLC44A5_uc001dgu.3_Silent_p.R539R|SLC44A5_uc010ora.2_Silent_p.R533R|SLC44A5_uc010orb.2_Silent_p.R409R	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	539						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACGTTTAAGACGGTGGTCCA	0.358000														36			7		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47532275	47532275	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47532275C>T	uc002zia.1	+	2	580	c.498C>T	c.(496-498)acC>acT	p.T166T	COL6A2_uc002zhz.1_Silent_p.T166T|COL6A2_uc002zhy.1_Silent_p.T166T	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	166	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCCACGTCACCGGCAGCCCCT	0.701000														67			21		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102510214	102510214	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102510214T>C	uc001yks.2	+	69	12680	c.12516T>C	c.(12514-12516)tcT>tcC	p.S4172S		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4172	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTCACCAGTCTCCCAACGAGC	0.507000														116			22		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27429187	27429187	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27429187G>A	uc001bnm.3	-	6	2249	c.1623C>T	c.(1621-1623)taC>taT	p.Y541Y	SLC9A1_uc001bnl.3_Silent_p.Y45Y|SLC9A1_uc010ofk.2_Silent_p.Y202Y	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	541					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGTGGTGACCGTAGTGGCCAC	0.647000											OREG0013277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			7		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114530064	114530064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114530064G>A	uc001vug.3	-	3	1537	c.485C>T	c.(484-486)aCg>aTg	p.T162M	GAS6_uc001vud.3_Missense_Mutation_p.T461M|GAS6_uc001vuf.3_Missense_Mutation_p.T188M	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	504	EGF-like 2; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CACTTTCACCGTTTCCTGGAT	0.557000														139			34		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95610117	95610117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95610117G>A	uc004asu.1	-	4	1101	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R320C|ZNF484_uc004asv.1_Missense_Mutation_p.R282C|ZNF484_uc010mrb.1_Missense_Mutation_p.R282C	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTTTTCTGACGGTTTGACTTG	0.428000														75			16		0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731794	53731794	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731794T>C	uc003gzt.3	+	3	749	c.569T>C	c.(568-570)gTc>gCc	p.V190A		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	Homo sapiens RAS-like, family 11, member B (RASL11B), mRNA.	190	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATAATGATGTCTACAGCGCC	0.502000														304			69		0	0	1	0	0
GSTA4	2941	broad.mit.edu	37	6	52847504	52847504	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52847504C>T	uc003pbf.3	-	6	565	c.415_splice	c.e6-1	p.I139_splice	GSTA4_uc003pbd.3_Splice_Site_p.I46_splice	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	139	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CCCTTAAAATCTGTAGGGAAA	0.408000														110			9		0	0	1	0	0
C17orf101	79701	broad.mit.edu	37	17	80356166	80356166	+	Silent	SNP	C	T	T	rs137991522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80356166C>T	uc002ket.2	-	7	881	c.729G>A	c.(727-729)tcG>tcA	p.S243S	C17orf101_uc010dip.2_Non-coding_Transcript|C17orf101_uc002keu.2_Silent_p.S243S	NM_175902	NP_787098	Q6PK18	CQ101_HUMAN	Homo sapiens chromosome 17 open reading frame 101 (C17orf101), transcript variant 2, mRNA.	243	Fe2OG dioxygenase.					integral to membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14						GGTACAGCAGCGAGGTGTAGT	0.622000														115			20		0	0	1	0	0
KCNS1	3787	broad.mit.edu	37	20	43727300	43727300	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43727300C>T	uc002xnc.3	-	3	510	c.113G>A	c.(112-114)gGc>gAc	p.G38D	KCNS1_uc002xnd.3_Missense_Mutation_p.G38D	NM_002251	NP_002242	Q96KK3	KCNS1_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA.	38						voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding			endometrium(1)|lung(3)|ovary(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				GGTGTCGGGGCCCGGGAACTC	0.697000														21			8		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27464907	27464907	+	Silent	SNP	C	T	T	rs61737366		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464907C>T	uc002rji.3	+	38	6174	c.6012C>T	c.(6010-6012)ggC>ggT	p.G2004G	CAD_uc010eyw.3_Silent_p.G1941G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2004	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCCAGAAGGGCGAATCCCTGG	0.652000														145			42		0	0	1	0	0
PAF1	54623	broad.mit.edu	37	19	39879412	39879412	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39879412C>T	uc002old.3	-	8	905	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_Missense_Mutation_p.A234T|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	244					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTAATCATGGCCTGAGACATC	0.552000														119			25		0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110024595	110024595	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110024595C>T	uc001toy.4	+	6	852	c.668C>T	c.(667-669)tCc>tTc	p.S223F	MVK_uc009zvk.3_Missense_Mutation_p.S223F|MVK_uc010sxr.2_Missense_Mutation_p.S171F|MVK_uc001toz.4_Missense_Mutation_p.S29F|MVK_uc021rdo.1_Missense_Mutation_p.S223F|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	223					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						AAGATTTCATCCTTAAAGAGG	0.512000														110			6		0	0	1	0	0
SPC25	57405	broad.mit.edu	37	2	169730185	169730185	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169730185A>C	uc002uel.3	-	5	591	c.460T>G	c.(460-462)Ttg>Gtg	p.L154V		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	154	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	Ndc80 complex|condensed chromosome kinetochore|cytosol|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						ATAAACTGCAATTTCTCACCT	0.353000														78			27		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1538957	1538957	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1538957C>A	uc003skn.2	-	6	985	c.884G>T	c.(883-885)aGc>aTc	p.S295I	INTS1_uc003skq.2_Missense_Mutation_p.S295I	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	295					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCCGTCTGGCTGTCCTCCTC	0.692000														307			54		8.52529e-16	1.01216e-15	1	1	0
SPATA22	84690	broad.mit.edu	37	17	3346538	3346538	+	Missense_Mutation	SNP	C	T	T	rs139946072		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3346538C>T	uc002fvm.3	-	7	1068	c.830G>A	c.(829-831)gGc>gAc	p.G277D	SPATA22_uc010vrg.2_Missense_Mutation_p.G261D|SPATA22_uc010vrf.2_Intron|SPATA22_uc002fvo.3_Missense_Mutation_p.G277D|SPATA22_uc002fvn.3_Missense_Mutation_p.G277D|SPATA22_uc002fvp.3_Missense_Mutation_p.G277D|SPATA22_uc010ckf.3_Missense_Mutation_p.G234D	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	277										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						ATAATATGGGCCAGGTGTAAC	0.348000														30			6		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380546	147380546	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380546T>C	uc021ovm.1	+	0	464	c.464T>C	c.(463-465)aTc>aCc	p.I155T	GJA8_uc001epu.2_Missense_Mutation_p.I155T	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	155					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ATCTGCCACATCATCTTCAAG	0.617000														326			68		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329152	88329152	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329152G>A	uc001vln.3	+	1	1728	c.1509G>A	c.(1507-1509)ccG>ccA	p.P503P	SLITRK5_uc010tic.1_Silent_p.P262P|SLITRK5_uc021rlc.1_Silent_p.P503P	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	503						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTTTGACCCGGTCCCAAACC	0.537000														168			27		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4285374	4285374	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4285374C>T	uc003smx.3	+	43	6457	c.6318C>T	c.(6316-6318)aaC>aaT	p.N2106N	SDK1_uc010kso.3_Silent_p.N1362N|SDK1_uc003smy.3_Silent_p.N593N|SDK1_uc003smz.3_Silent_p.N166N	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	2106					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAAGTACAACGGCGCCGTGC	0.602000														124			20		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156813243	156813243	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156813243G>T	uc010pht.2	-	15	3171	c.2872C>A	c.(2872-2874)Cca>Aca	p.P958T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	958					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGTACTCTGGATTCACAGAA	0.537000														316			51		3.10996e-30	3.91596e-30	1	1	0
FOXF1	2294	broad.mit.edu	37	16	86544232	86544232	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86544232C>T	uc002fjl.3	+	0	100	c.57C>T	c.(55-57)ggC>ggT	p.G19G	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	19					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						gcggcggcggcgggggaggcg	0.776000														11			10		0	0	1	0	0
TMEM198	130612	broad.mit.edu	37	2	220412405	220412405	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412405G>A	uc002vme.3	+	3	929	c.344G>A	c.(343-345)aGc>aAc	p.S115N	TMEM198_uc002vmf.3_Missense_Mutation_p.S115N	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	115	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTAGTGCGCAGCGTGGGCCTC	0.701000														283			53		0	0	1	0	0
FTO	79068	broad.mit.edu	37	16	54145726	54145726	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:54145726C>T	uc002ehr.3	+	8	1639	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FTO_uc010vha.2_Missense_Mutation_p.R177W|FTO_uc010cbz.3_Missense_Mutation_p.R74W|FTO_uc002ehs.3_Non-coding_Transcript	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	Homo sapiens fat mass and obesity associated (FTO), mRNA.	473					DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCCAGAATGTCGGCCATACTG	0.488000														373			19		0	0	1	0	0
MTRF1	9617	broad.mit.edu	37	13	41791362	41791362	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41791362T>A	uc010tff.2	-	11	1592	c.1373A>T	c.(1372-1374)aAt>aTt	p.N458I	MTRF1_uc001uxx.3_Missense_Mutation_p.E409D|MTRF1_uc001uxy.3_Missense_Mutation_p.E409D|MTRF1_uc001uxz.3_Missense_Mutation_p.E245D|AK056182_uc001uxv.1_Intron|BC051736_uc001uya.1_5'Flank|BC051736_uc001uyb.3_5'Flank			O75570	RF1M_HUMAN	Homo sapiens mitochondrial translational release factor 1 (MTRF1), nuclear gene encoding mitochondrial protein, mRNA.	0					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACATAAAAATTCCTGGTAAA	0.333000														72			19		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272508	44272508	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44272508G>A	uc010jza.1	-	11	1629	c.1626C>T	c.(1624-1626)gaC>gaT	p.D542D	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	542					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CTGCTGTCCCGTCCTCTGTAT	0.617000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			18		0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480291	140480291	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140480291T>G	uc003lio.3	+	0	58	c.58T>G	c.(58-60)Ttt>Gtt	p.F20V	BC016751_uc003lin.3_Non-coding_Transcript	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	20					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTTTGTTTTTCTGGGAGG	0.507000														107			32		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129906354	129906354	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129906354G>T	uc001lke.3	-	12	3945	c.3750C>A	c.(3748-3750)ccC>ccA	p.P1250P	MKI67_uc001lkf.3_Silent_p.P890P|MKI67_uc009yav.1_Silent_p.P825P|MKI67_uc009yaw.1_Silent_p.P400P	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1250	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGAGTCGCAGGGTATTTTAG	0.512000														209			29		1.88708e-17	2.26542e-17	1	1	0
GPR77	27202	broad.mit.edu	37	19	47844125	47844125	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47844125C>T	uc002pgk.1	+	1	140	c.69C>T	c.(67-69)tgC>tgT	p.C23C	GPR77_uc010ela.1_Silent_p.C23C|GPR77_uc021uwn.1_Silent_p.C23C	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	23					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CTGTGGACTGCCTGGATGGCG	0.647000														299			14		0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62863731	62863731	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62863731C>T	uc002yii.3	+	18	3254	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	MYT1_uc002yij.3_Missense_Mutation_p.H623Y	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	964					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTTCCTCACCCACCGGAGGTA	0.647000														120			34		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54423953	54423953	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54423953C>T	uc002lgk.1	+	14	2340	c.2129C>T	c.(2128-2130)cCg>cTg	p.P710L	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.P710L	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	710										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCCTCTAGGCCGAATACTGCT	0.433000														165			9		0	0	1	0	0
HGSNAT	138050	broad.mit.edu	37	8	43027471	43027471	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:43027471G>A	uc003xpx.4	+	7	810	c.762G>A	c.(760-762)atG>atA	p.M254I		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	282					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTATACTCATGGTCTTTGTCA	0.368000														111			18		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75683626	75683626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75683626C>T	uc010oqz.1	-	16	1732	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T	SLC44A5_uc001dgt.2_Missense_Mutation_p.A517T|SLC44A5_uc001dgs.2_Missense_Mutation_p.A475T|SLC44A5_uc001dgr.2_Missense_Mutation_p.A475T|SLC44A5_uc001dgu.3_Missense_Mutation_p.A517T|SLC44A5_uc010ora.2_Missense_Mutation_p.A511T|SLC44A5_uc010orb.2_Missense_Mutation_p.A387T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	517						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A517S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATCCAAATGCTAGGGATCCT	0.289000														35			12		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328479	88328479	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88328479C>A	uc001vln.3	+	1	1055	c.836C>A	c.(835-837)tCc>tAc	p.S279Y	SLITRK5_uc010tic.1_Missense_Mutation_p.S38Y|SLITRK5_uc021rlc.1_Missense_Mutation_p.S279Y	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	279	LRRCT 1.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GACGAGGTATCCAAGCAGGAA	0.542000														171			36		3.76114e-14	4.41238e-14	1	1	0
C1orf49	84066	broad.mit.edu	37	1	178489945	178489945	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178489945C>T	uc001glt.2	+	6	591	c.479C>T	c.(478-480)aCg>aTg	p.T160M	C1orf49_uc021pfd.1_Missense_Mutation_p.T160M|C1orf49_uc001glu.1_Missense_Mutation_p.T160M|C1orf49_uc021pfe.1_Missense_Mutation_p.T160M|C1orf49_uc001glw.2_Missense_Mutation_p.T168M|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	160						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CACAAGAAGACGATGGCACCA	0.547000														97			22		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29661957	29661957	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661957A>G	uc002hgg.3	+	39	6297	c.5914A>G	c.(5914-5916)Act>Gct	p.T1972A	NF1_uc002hgh.3_Missense_Mutation_p.T1951A|NF1_uc010cso.3_Missense_Mutation_p.T160A|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1972					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.?(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)		ACAAAGAGTTACTGCTATTCT	0.378000			"""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)				79			11		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974198	85974198	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974198G>A	uc001kcv.3	+	16	2506	c.2401G>A	c.(2401-2403)Gcg>Acg	p.A801T	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Missense_Mutation_p.A505T|CDHR1_uc001kcx.3_Missense_Mutation_p.A115T	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	801	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCCAGCGTGGCGCCCAGCAC	0.602000														323			74		0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49893906	49893906	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49893906G>A	uc001rud.2	+	8	1746	c.757G>A	c.(757-759)Gca>Aca	p.A253T	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.A253T|SPATS2_uc001ruf.2_Missense_Mutation_p.A253T	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	253						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTGTCTCTTGCACGGTATCG	0.353000														82			20		0	0	1	0	0
CEACAM3	1084	broad.mit.edu	37	19	42301744	42301744	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42301744C>T	uc002orn.1	+	1	364	c.288C>T	c.(286-288)agC>agT	p.S96S	CEACAM3_uc010eia.1_Silent_p.S96S|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	96	Ig-like V-type.					integral to membrane				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCGCATACAGCGGTCGAGAGA	0.463000														360			45		0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521164	33521164	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33521164C>A	uc002hjd.2	-	0	249	c.163G>T	c.(163-165)Ggc>Tgc	p.G55C		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	55	DUF6 1.					integral to membrane											GAAAGGGGGCCCACGAAGCCA	0.647000														234			42		7.05121e-23	8.70768e-23	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189862066	189862066	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189862066C>T	uc002uqj.1	+	25	1937	c.1820C>T	c.(1819-1821)cCt>cTt	p.P607L		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	607	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGTCCTCCTGGAAAG	0.433000														123			22		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66891152	66891152	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66891152C>T	uc002jhq.3	-	21	3107	c.2767G>A	c.(2767-2769)Gca>Aca	p.A923T	ABCA8_uc002jhp.3_Missense_Mutation_p.A883T|ABCA8_uc010wqq.2_Missense_Mutation_p.A923T|ABCA8_uc010wqr.2_Missense_Mutation_p.A862T|ABCA8_uc002jhr.3_Missense_Mutation_p.A923T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	883						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCAATGCTTGCCCCTAAGGTG	0.353000														64			8		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98552885	98552885	+	Silent	SNP	G	A	A	rs143014711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98552885G>A	uc003upp.3	+	39	6083	c.5874G>A	c.(5872-5874)ccG>ccA	p.P1958P	TRRAP_uc011kis.2_Silent_p.P1940P|TRRAP_uc003upr.3_Silent_p.P1657P	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1958					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACACCGTCCCGCAGCTGGTCC	0.627000														101			14		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169524540	169524540	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524540G>T	uc001ggg.1	-	6	1143	c.998C>A	c.(997-999)aCc>aAc	p.T333N	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	333					cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGATTCCTGGTTTTCTTTGG	0.413000														81			33		6.04164e-23	7.46519e-23	1	1	0
TBX3	6926	broad.mit.edu	37	12	115120759	115120759	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:115120759G>A	uc001tvt.1	-	0	1211	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	TBX3_uc001tvu.1_Missense_Mutation_p.P83S|TBX3_uc010syw.1_Missense_Mutation_p.P83S	NM_016569	NP_057653	O15119	TBX3_HUMAN	Homo sapiens T-box 3 (TBX3), transcript variant 2, mRNA.	83					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TGCGCCTGGGGCCCCAGGGAG	0.657000														105			33		0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126208217	126208217	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126208217G>A	uc010hsi.2	-	18	1843	c.1789_splice	c.e18-1	p.A597_splice	UROC1_uc003eiz.2_Splice_Site_p.A537_splice	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	537					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GACCACCGGCGCCTGTGCATG	0.592000														170			22		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179414170	179414170	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179414170G>T	uc001gmo.3	+	15	2016	c.1629G>T	c.(1627-1629)aaG>aaT	p.K543N	AXDND1_uc001gmn.2_Missense_Mutation_p.K331N|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Missense_Mutation_p.K501N	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	543										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ATACTCTCAAGATTATTAAAC	0.393000														94			34		3.03874e-20	3.70712e-20	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217285059	217285059	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217285059G>A	uc002vgc.4	+	4	1230	c.900G>A	c.(898-900)caG>caA	p.Q300Q	SMARCAL1_uc002vgd.4_Silent_p.Q300Q|SMARCAL1_uc010fvg.3_Silent_p.Q300Q	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	300	HARP 1.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCAACCTGCAGCCTCTGGAAT	0.547000									Schimke Immuno-Osseous Dysplasia					89			10		0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548815	22548815	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22548815C>T	uc003xcm.1	-	1	693	c.335G>A	c.(334-336)gGg>gAg	p.G112E	EGR3_uc011kzn.1_Missense_Mutation_p.G74E|EGR3_uc011kzo.2_Missense_Mutation_p.G58E	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	112					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CGGGGGCACCCCCAAGATGCC	0.637000														165			48		0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131369983	131369983	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131369983G>A	uc004bvl.4	+	32	4288	c.4146_splice	c.e32+1	p.Q1382_splice	SPTAN1_uc004bvm.4_Splice_Site_p.Q1382_splice|SPTAN1_uc004bvn.4_Splice_Site_p.Q1362_splice	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1382					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCGACACCAGGTGGGTGGACC	0.582000														228			15		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010077	31010077	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31010077T>G	uc021vfn.1	-	0	147	c.115A>C	c.(115-117)Aca>Cca	p.T39P	CAPN13_uc021vfm.1_Missense_Mutation_p.T39P|CAPN13_uc002rnp.1_Missense_Mutation_p.T39P	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	39	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCAGGGAATGTCTCATCCTTA	0.542000														25			8		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64679654	64679654	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64679654C>T	uc001xgl.3	+	104	19217	c.18987C>T	c.(18985-18987)ctC>ctT	p.L6329L	SYNE2_uc001xgm.3_Silent_p.L6329L|SYNE2_uc010apy.3_Silent_p.L2714L|SYNE2_uc001xgn.3_Silent_p.L1291L|SYNE2_uc021rui.1_Silent_p.L1333L|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Silent_p.L299L|SYNE2_uc001xgq.3_Silent_p.L694L|SYNE2_uc001xgr.3_Silent_p.L112L|SYNE2_uc010tsi.2_5'Flank|SYNE2_uc001xgs.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6329					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGGAGGAACTCCACCGCTACT	0.572000														158			40		0	0	1	0	0
PMPCA	23203	broad.mit.edu	37	9	139309012	139309012	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139309012A>G	uc004chl.3	+	4	450	c.445A>G	c.(445-447)Acc>Gcc	p.T149A	PMPCA_uc011mdy.1_Missense_Mutation_p.T149A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_Intron|PMPCA_uc010nbl.3_Missense_Mutation_p.T49A|PMPCA_uc004chm.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	149					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		CAGAGACACCACCATGTATGC	0.562000														164			33		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113375352	113375352	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113375352G>T	uc003eam.3	-	6	5588	c.5177C>A	c.(5176-5178)gCc>gAc	p.A1726D	KIAA2018_uc003eal.3_Missense_Mutation_p.A1670D	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1726					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATATCTGAGGCCACAGTATG	0.408000														183			41		3.61848e-18	4.36538e-18	1	1	0
SLC41A1	254428	broad.mit.edu	37	1	205779550	205779550	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205779550G>A	uc001hdh.1	-	1	892	c.20C>T	c.(19-21)cCg>cTg	p.P7L		NM_173854	NP_776253	Q8IVJ1	S41A1_HUMAN	Homo sapiens solute carrier family 41, member 1 (SLC41A1), mRNA.	7						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GACGTCCTTCGGCTCTGGCTT	0.552000											OREG0014163	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		200			55		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55523659	55523659	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55523659G>A	uc002ehz.4	+	6	1414	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	MMP2_uc010vhd.2_Missense_Mutation_p.R292H|MMP2_uc010ccc.3_Missense_Mutation_p.R318H	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	368	Collagen-binding.|Fibronectin type-II 3.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGCGCCGGCCGCAGTGACGGA	0.582000														165			54		0	0	1	0	0
INPP5A	3632	broad.mit.edu	37	10	134563063	134563063	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134563063G>A	uc001llp.3	+	9	1023	c.775G>A	c.(775-777)Gac>Aac	p.D259N	INPP5A_uc001llo.1_Missense_Mutation_p.D259N|INPP5A_uc001llq.3_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	259					cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CCGGGCCGCCGACACCAATGA	0.632000														156			32		0	0	1	0	0
VGLL1	51442	broad.mit.edu	37	X	135632947	135632947	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135632947C>T	uc004ezy.3	+	3	825	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	MIR934_uc022cev.1_5'Flank	NM_016267	NP_057351	Q99990	VGLL1_HUMAN	Homo sapiens vestigial like 1 (Drosophila) (VGLL1), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity	p.R219H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					ATATGTATCTCGTGGATCTGC	0.428000														70			11		0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793050	4793050	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793050A>G	uc002mbf.3	+	0	1323	c.1184A>G	c.(1183-1185)tAc>tGc	p.Y395C	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	395					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TACATCCGTTACAGGGGTGCC	0.617000														216			53		0	0	1	0	0
PARP9	83666	broad.mit.edu	37	3	122274783	122274783	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122274783G>T	uc010hri.3	-	3	485	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	PARP9_uc003eff.4_Missense_Mutation_p.L79M|PARP9_uc011bjs.2_Missense_Mutation_p.L79M|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.L79M|PARP9_uc003efh.3_Missense_Mutation_p.L114M|PARP9_uc003efj.2_Missense_Mutation_p.L79M	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	114	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		CTAGGAGTCAGCATTTTTCTG	0.473000														77			16		1.15088e-07	1.24477e-07	1	1	0
RYR1	6261	broad.mit.edu	37	19	39028579	39028579	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39028579C>A	uc002oit.3	+	83	11798	c.11668C>A	c.(11668-11670)Ctc>Atc	p.L3890I	RYR1_uc002oiu.3_Missense_Mutation_p.L3885I|RYR1_uc002oiv.1_Missense_Mutation_p.L799I	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3890					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)	CCTACAATTGCTCTGTGAGGG	0.562000														198			27		4.59853e-10	5.14677e-10	1	1	0
CHD1	1105	broad.mit.edu	37	5	98209328	98209328	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98209328T>C	uc003knf.3	-	24	3688	c.3540A>G	c.(3538-3540)ttA>ttG	p.L1180L	CHD1_uc010jbn.3_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1180					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AACTATCCTTTAATGCTTTAA	0.353000														48			14		0	0	1	0	0
GK	2710	broad.mit.edu	37	4	166200445	166200445	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166200445C>A	uc003ird.3	-	0	731	c.353G>T	c.(352-354)aGa>aTa	p.R118I	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	118					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AGACTGTGTTCTTAGATCAAG	0.438000														214			39		1.30015e-28	1.63285e-28	1	1	0
PMEPA1	56937	broad.mit.edu	37	20	56227303	56227303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227303G>A	uc002xyq.3	-	3	1063	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C	PMEPA1_uc002xyr.3_Missense_Mutation_p.R174C|PMEPA1_uc002xys.3_Missense_Mutation_p.R189C|PMEPA1_uc002xyt.3_Missense_Mutation_p.R174C	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	224					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCTCCATGCGCCCGCCGCTG	0.692000														62			13		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154055600	154055600	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154055600G>A	uc003faa.3	-	3	2184	c.2084C>T	c.(2083-2085)gCa>gTa	p.A695V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	695						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGCCTGTGTGCTTCTACTGT	0.438000														277			60		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133730325	133730325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133730325C>T	uc004bzw.3	+	2	394	c.391C>T	c.(391-393)Cct>Tct	p.P131S	ABL1_uc004bzv.3_Missense_Mutation_p.P150S	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	131	SH2.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GTACCATGGGCCTGTGTCCCG	0.562000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									158			9		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247016	156247016	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156247016C>A	uc001foc.4	-	3	463	c.314G>T	c.(313-315)aGc>aTc	p.S105I		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	105					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTCCAAAGTGCTCCGGCTGTG	0.522000														45			8		3.09899e-07	3.33423e-07	1	1	0
RNFT2	84900	broad.mit.edu	37	12	117187661	117187661	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117187661G>A	uc009zwn.3	+	3	332	c.99G>A	c.(97-99)gcG>gcA	p.A33A	RNFT2_uc001twb.4_Silent_p.A33A|RNFT2_uc001twa.4_5'UTR	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	33						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCAGCCAGGCGCTCAGCTCCG	0.582000														11			3		0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159790058	159790058	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159790058T>C	uc003iqe.4	+	12	2453	c.2270T>C	c.(2269-2271)gTg>gCg	p.V757A		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	757	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GCTGCTGATGTGGCTCAGGAC	0.537000														148			35		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75078406	75078406	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75078406C>A	uc001dgg.3	-	8	1307	c.1088G>T	c.(1087-1089)aGc>aTc	p.S363I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S157I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	363								p.S363S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACAACAGGAGCTTAACCTGTT	0.443000														65			16		0.0332995	0.0335293	1	1	0
PSMA5	5686	broad.mit.edu	37	1	109954798	109954798	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109954798C>T	uc001dxn.3	-	4	418	c.300G>A	c.(298-300)tgG>tgA	p.W100*	PSMA5_uc010ovj.2_Nonsense_Mutation_p.W42*|PSMA5_uc021ord.1_Nonsense_Mutation_p.W42*|PSMA5_uc021ore.1_Nonsense_Mutation_p.W42*	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	100					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		TGTAGGTGAACCAGTGGTTCT	0.468000														82			5		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138379635	138379635	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138379635C>A	uc022bpi.1	+	0	3279	c.3279C>A	c.(3277-3279)gtC>gtA	p.V1093V	PPP1R26_uc004cfr.1_Silent_p.V1093V	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	1093						nucleolus	protein binding										GAAAGGGTGTCTCCTGGGGGG	0.721000														41			4		2.56e-06	2.71868e-06	1	1	0
MED13L	23389	broad.mit.edu	37	12	116410035	116410035	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116410035C>T	uc001tvw.3	-	25	5793	c.5738G>A	c.(5737-5739)aGt>aAt	p.S1913N		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	1913					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.S1913R(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAGGAGGATACTCCAATCTGA	0.418000														85			18		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85699592	85699592	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85699592G>A	uc002fix.3	+	12	2843	c.2769G>A	c.(2767-2769)acG>acA	p.T923T	KIAA0182_uc002fiw.3_Silent_p.T819T|KIAA0182_uc002fiy.3_Silent_p.T850T|KIAA0182_uc002fiz.3_Silent_p.T65T|KIAA0182_uc010cho.3_Silent_p.T103T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	923							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						AACCAGCCACGCAGCAAGCCT	0.522000														101			31		0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81685954	81685954	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81685954G>A	uc002fgp.3	+	3	696	c.624G>A	c.(622-624)tcG>tcA	p.S208S	CMIP_uc002fgq.2_Silent_p.S114S|CMIP_uc010vnq.2_Silent_p.S21S|CMIP_uc002fgr.2_Silent_p.S55S	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	174						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						AAATCGTCTCGAAACTGCTCT	0.582000														88			52		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54496518	54496518	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54496518G>A	uc004dtg.3	-	3	1766	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	FGD1_uc011moi.1_Silent_p.D102D	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	344					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.D344D(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcctcgtcgtcctcct	0.632000														47			16		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11199383	11199383	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11199383T>C	uc001asd.3	-	35	5229	c.5108A>G	c.(5107-5109)aAc>aGc	p.N1703S		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1703	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTCCACATGTTTTTCATGTA	0.498000														239			31		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323737	38323737	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38323737G>A	uc003aui.3	+	8	2060	c.1785G>A	c.(1783-1785)aaG>aaA	p.K595K		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	595	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AGCCAGCCAAGCCCTGCAGTG	0.642000														336			62		0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103901019	103901019	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103901019C>T	uc001kum.3	+	4	2793	c.2754C>T	c.(2752-2754)gcC>gcT	p.A918A	PPRC1_uc001kun.3_Silent_p.A798A|PPRC1_uc010qqj.2_Silent_p.A918A|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	918	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CTCACTATGCCCCCTTGCCAT	0.597000														175			39		0	0	1	0	0
TEKT2	27285	broad.mit.edu	37	1	36553677	36553677	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36553677C>T	uc001bzr.3	+	9	1310	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	TEKT2_uc001bzs.3_Missense_Mutation_p.R301C|ADPRHL2_uc001bzt.3_5'Flank	NM_014466	NP_055281	Q9UIF3	TEKT2_HUMAN	Homo sapiens tektin 2 (testicular) (TEKT2), mRNA.	395					cell projection organization|microtubule cytoskeleton organization	actin cytoskeleton|cilium axoneme|flagellar axoneme|focal adhesion|microtubule|nucleolus				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)|skin(2)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGACACACGGCGCAAGCTGAC	0.607000														62			13		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353352	105353352	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353352G>A	uc001yps.3	+	10	2872	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T	KIAA0284_uc010axb.3_Missense_Mutation_p.A856T|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	926						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GGCCCTGGAGGCCCGACTCCT	0.682000														150			19		0	0	1	0	0
DMRTC2	63946	broad.mit.edu	37	19	42352907	42352907	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42352907G>A	uc010xwe.2	+	4	575	c.492G>A	c.(490-492)tcG>tcA	p.S164S	DMRTC2_uc002orr.1_Silent_p.S41S|DMRTC2_uc002ors.3_Silent_p.S164S	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	164	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CGGAAGCCTCGCCCTTGTCCT	0.647000														276			145		0	0	1	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92838007	92838007	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92838007C>A	uc011khy.2	-	4	990	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	HEPACAM2_uc003uml.3_Nonsense_Mutation_p.E288*|HEPACAM2_uc010lff.3_Nonsense_Mutation_p.E288*|HEPACAM2_uc003umm.3_Nonsense_Mutation_p.E300*	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	300	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATGCAACTTCTAAGCGAGGC	0.433000														119			27		2.79863e-10	3.14589e-10	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362601	105362601	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105362601G>T	uc010qqu.1	-	11	2186	c.2119C>A	c.(2119-2121)Ctc>Atc	p.L707I	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.L599I|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.L641I|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.L599I|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.L764I	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	792	Ser-rich.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GAGCCCTTGAGCCCTCCACGG	0.612000														479			117		1.24258e-46	1.58407e-46	1	1	0
TCRVA15	0	broad.mit.edu	37	14	22204513	22204513	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22204513G>A	uc001wbp.2	+	0	62	c.13G>A	c.(13-15)Gcg>Acg	p.A5T	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.A5T|TCRVA15_uc021rpc.1_5'Flank					SubName: Full=Tcell alpha chain; Flags: Fragment;																		GAGGCAAGTGGCGAGAGTGAT	0.517000														33			7		0	0	1	0	0
PPP6R2	9701	broad.mit.edu	37	22	50853043	50853043	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50853043C>A	uc003blb.2	+	5	899	c.477C>A	c.(475-477)acC>acA	p.T159T	PPP6R2_uc003blc.3_Silent_p.T159T|PPP6R2_uc003bky.2_Silent_p.T159T|PPP6R2_uc003bla.2_Silent_p.T159T|PPP6R2_uc003bkz.2_Silent_p.T159T	NM_001242898	NP_001229827	O75170	PP6R2_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 2 (PPP6R2), transcript variant 1, mRNA.	159						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						ACATCGGCACCTCAGCGCTTA	0.607000														154			26		9.86323e-18	1.1857e-17	1	1	0
CADPS	8618	broad.mit.edu	37	3	62631410	62631410	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62631410C>T	uc003dll.2	-	5	1672	c.1312G>A	c.(1312-1314)Gct>Act	p.A438T	CADPS_uc003dlm.2_Missense_Mutation_p.A438T|CADPS_uc003dln.2_Missense_Mutation_p.A438T|CADPS_uc021wzv.1_Missense_Mutation_p.A438T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	438	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGTTTAGAAGCCTCGGCCTGA	0.453000														177			43		0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48340860	48340860	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48340860G>T	uc004djo.1	+	9	1048	c.725G>T	c.(724-726)aGc>aTc	p.S242I	FTSJ1_uc004djn.1_Missense_Mutation_p.S240I|FTSJ1_uc011mlw.1_Missense_Mutation_p.S105I	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	242					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGGGACCTGAGCTCCTATGAT	0.562000														55			19		1.01871e-10	1.15017e-10	1	1	0
MS4A3	932	broad.mit.edu	37	11	59828619	59828619	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59828619C>T	uc001nom.3	+	2	114	c.-14_splice	c.e2-1		MS4A3_uc001non.3_Splice_Site|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.							endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TCTATCACAGCCATAAACAAC	0.473000														104			13		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13356068	13356068	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13356068G>A	uc002mwy.3	-	30	5114	c.4878C>T	c.(4876-4878)cgC>cgT	p.R1626R	CACNA1A_uc002mwx.3_Silent_p.R332R|CACNA1A_uc010dzc.2_Silent_p.R1152R|CACNA1A_uc010xnd.2_Silent_p.R1629R|CACNA1A_uc021ups.1_Silent_p.R1626R|CACNA1A_uc010xne.2_Silent_p.R1629R|CACNA1A_uc010dze.2_Silent_p.R1626R|CACNA1A_uc021upt.1_Silent_p.R1627R|CACNA1A_uc002mwv.3_Silent_p.R143R	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1627					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)	TCCAGGCATCGCGGAAATAAT	0.552000														114			17		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591706	46591706	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46591706G>A	uc009zkj.1	-	14	1945	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V	SLC38A1_uc001rpb.3_Silent_p.V420V|SLC38A1_uc001rpc.3_Silent_p.V420V|SLC38A1_uc001rpd.3_Silent_p.V420V|SLC38A1_uc001rpe.3_Silent_p.V420V|SLC38A1_uc001rpa.3_Silent_p.V420V	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	420					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.G419E(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATACCTACGACTCCAAAAA	0.373000														59			17		0	0	1	0	0
GXYLT1	283464	broad.mit.edu	37	12	42499768	42499768	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42499768G>A	uc001rms.4	-	4	941	c.716C>T	c.(715-717)aCa>aTa	p.T239I	GXYLT1_uc001rmt.4_Missense_Mutation_p.T208I	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	239					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						AGCAATTTGTGTGGAATTAAA	0.368000														71			15		0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176860543	176860543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176860543G>A	uc021yit.1	+	7	764	c.604G>A	c.(604-606)Gcc>Acc	p.A202T	GRK6_uc003mgq.2_Missense_Mutation_p.A202T|GRK6_uc021yiu.1_Missense_Mutation_p.A202T|GRK6_uc003mgs.1_Missense_Mutation_p.A172T	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	202	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGGTGTGCGCCTGCCAGGT	0.602000														139			61		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101523781	101523781	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101523781C>T	uc002bwr.3	+	3	629	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.R104C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	104					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGAGATGGTCCGCTACCTACT	0.587000														245			40		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038471	75038471	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75038471G>A	uc001dgg.3	-	13	3142	c.2923C>T	c.(2923-2925)Ctt>Ttt	p.L975F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	975	Glu-rich.							p.L975I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTCCCCCAAGAATTGCCTCT	0.522000														164			42		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27327295	27327295	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27327295C>T	uc010lur.3	-	2	886	c.277G>A	c.(277-279)Gct>Act	p.A93T	CHRNA2_uc011lal.2_Intron|CHRNA2_uc010lus.3_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	93						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ATGAGCTGAGCGATGGACAGT	0.632000														279			52		0	0	1	0	0
SUSD1	64420	broad.mit.edu	37	9	114825286	114825286	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114825286A>C	uc010mui.3	-	12	1822	c.1781T>G	c.(1780-1782)tTt>tGt	p.F594C	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.F594C|SUSD1_uc010muj.3_Missense_Mutation_p.F594C			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	594						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GTGCACCGTAAAAAATTCTAC	0.483000														118			35		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777141	57777141	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57777141A>C	uc003hch.3	+	1	684	c.337A>C	c.(337-339)Agt>Cgt	p.S113R	REST_uc003hci.3_Missense_Mutation_p.S113R|REST_uc003hcj.1_Missense_Mutation_p.S113R|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	113	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GGAACTGAGAAGTTTGGAACT	0.433000														120			21		0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44691943	44691943	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44691943C>T	uc003gww.4	+	10	1493	c.1286C>T	c.(1285-1287)aCc>aTc	p.T429I		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	429					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTTAACAACCCCTACTGTT	0.378000														76			12		0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87764215	87764215	+	Missense_Mutation	SNP	C	T	T	rs145431417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87764215C>T	uc002fki.3	-	5	644	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	KLHDC4_uc010cht.2_5'UTR|KLHDC4_uc002fkj.3_Intron|KLHDC4_uc002fkl.3_Missense_Mutation_p.R124Q|KLHDC4_uc010chu.1_5'UTR	NM_017566	NP_060036	Q8TBB5	KLDC4_HUMAN	Homo sapiens kelch domain containing 4 (KLHDC4), transcript variant 1, mRNA.	181										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GGCCACCATCCGATGTCCACT	0.433000														266			13		0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36208797	36208797	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36208797C>T	uc001bzi.3	-	17	3168	c.3088G>A	c.(3088-3090)Gaa>Aaa	p.E1030K	CLSPN_uc009vux.3_Missense_Mutation_p.E966K	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	1030					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCATCATCTTCATGGTCTTCC	0.368000														162			20		0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653271	18653271	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18653271C>T	uc002gul.3	+	2	1139	c.907C>T	c.(907-909)Ctc>Ttc	p.L303F	FBXW10_uc002guj.3_Intron|FBXW10_uc002guk.3_Intron|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCAGACACCTCCCCTCTTG	0.517000														136			9		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202622146	202622146	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202622146G>T	uc002uyo.3	-	4	1806	c.1450C>A	c.(1450-1452)Ctc>Atc	p.L484I	ALS2_uc002uyp.4_Missense_Mutation_p.L484I|ALS2_uc002uyq.3_Missense_Mutation_p.L484I	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	484					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AATCCAGGGAGGGAGAGTCTT	0.418000														141			14		7.93312e-07	8.47869e-07	1	1	0
PTCRA	171558	broad.mit.edu	37	6	42890844	42890844	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42890844C>T	uc021yzp.1	+	1	219	c.138C>T	c.(136-138)gtC>gtT	p.V46V	PTCRA_uc011duz.1_Missense_Mutation_p.S57F|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Silent_p.V46V|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	46						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGGTGGTGGTCTGCCTGGTCC	0.597000														175			37		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126138953	126138953	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126138953G>T	uc010hsg.1	+	9	1025	c.966G>T	c.(964-966)caG>caT	p.Q322H	CCDC37_uc003eiu.1_Missense_Mutation_p.Q321H	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	321										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGAGGGTCAGGGTACAAAGA	0.642000														71			25		1.55469e-16	1.85573e-16	1	1	0
RAD23A	5886	broad.mit.edu	37	19	13059574	13059574	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13059574G>A	uc002mvw.1	+	4	656	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	RAD23A_uc002mvz.1_Missense_Mutation_p.A183T|RAD23A_uc010xmw.1_Missense_Mutation_p.A18T	NM_005053	NP_005044	P54725	RD23A_HUMAN	Homo sapiens RAD23 homolog A (S. cerevisiae) (RAD23A), mRNA.	183	UBA 1.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTCGTGGCCGCCCTGAGAGC	0.632000								Nucleotide excision repair (NER)						369			92		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70255978	70255978	+	Missense_Mutation	SNP	G	A	A	rs148604002		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70255978G>A	uc003tvw.4	+	18	4511	c.3776G>A	c.(3775-3777)cGa>cAa	p.R1259Q	AUTS2_uc003tvx.4_Missense_Mutation_p.R1235Q|AUTS2_uc011keg.2_Missense_Mutation_p.R711Q	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1259										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ATCGAGGCCCGATAAGCCGAG	0.602000														47			7		0	0	1	0	0
PARPBP	55010	broad.mit.edu	37	12	102576327	102576327	+	Splice_Site	SNP	G	A	A	rs74958875		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102576327G>A	uc010swa.2	+	10	1528	c.1416_splice	c.e10-1	p.R472_splice	PARPBP_uc001tjf.3_Splice_Site_p.R395_splice|PARPBP_uc001tjg.3_Splice_Site_p.R314_splice|PARPBP_uc001tjh.3_Splice_Site_p.R314_splice|PARPBP_uc010swb.2_Intron|PARPBP_uc009zuc.3_Intron|PARPBP_uc001tjj.3_Splice_Site_p.R110_splice|PARPBP_uc001tjk.3_Splice_Site_p.R274_splice|PARPBP_uc009zud.3_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	Homo sapiens PARP1 binding protein (PARPBP), mRNA.	395					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	p.R314S(1)|p.R395S(1)		endometrium(1)|lung(8)|urinary_tract(2)	11						TTTGACATAGGTCTCCCACAC	0.343000														17			4		0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67119474	67119474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67119474C>T	uc002jhw.1	-	9	1517	c.1342G>A	c.(1342-1344)Gct>Act	p.A448T		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	448					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATAACCTTAGCATTAGTCCTT	0.373000														46			8		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12312866	12312866	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12312866G>T	uc001rah.4	-	10	2454	c.2312C>A	c.(2311-2313)cCt>cAt	p.P771H	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P771H	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	771	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GTCTATCTTAGGTTTTCCACC	0.358000														128			26		2.79863e-10	3.14589e-10	1	1	0
DGKG	1608	broad.mit.edu	37	3	185986607	185986607	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185986607C>T	uc003fqa.3	-	11	1636	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	DGKG_uc003fqb.3_Intron|DGKG_uc003fqc.3_Missense_Mutation_p.V367M|DGKG_uc011brx.2_Intron	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	367					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	CGGCACCACACGCAGTGCCGC	0.602000														84			17		0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127238595	127238595	+	Missense_Mutation	SNP	G	A	A	rs144391719	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127238595G>A	uc003vmd.2	+	3	1286	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	FSCN3_uc011koh.1_Missense_Mutation_p.R222H|FSCN3_uc010llc.2_Missense_Mutation_p.R356H	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	356						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGCAGGGGGCGCTTCCTGGGC	0.582000														278			50		0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92655655	92655655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92655655C>T	uc001khd.2	+	8	868	c.598C>T	c.(598-600)Cca>Tca	p.P200S	RPP30_uc009xtx.3_Missense_Mutation_p.P200S	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	200					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AATAAGAGGGCCATATGACGT	0.279000														79			9		0	0	1	0	0
MLL5	55904	broad.mit.edu	37	7	104752725	104752725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104752725G>A	uc003vcm.3	+	26	5056	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	MLL5_uc010ljc.3_Missense_Mutation_p.A1508T|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Missense_Mutation_p.A242T	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1508	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						GAACCTTCCAGCCAATACTCA	0.458000														119			34		0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117875	37117875	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37117875A>C	uc002oek.3	+	4	1189	c.1076A>C	c.(1075-1077)aAg>aCg	p.K359T	ZNF382_uc010efa.3_Missense_Mutation_p.K310T|ZNF382_uc010efb.3_Missense_Mutation_p.K358T|ZNF382_uc002oel.3_Missense_Mutation_p.K358T	NM_032825	NP_116214	Q96SR6	ZN382_HUMAN	Homo sapiens zinc finger protein 382 (ZNF382), mRNA.	359	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GATTGTGGGAAGTCCTTCCGC	0.478000														134			7		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578258	37578258	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578258G>A	uc003aqx.1	-	2	1070	c.807C>T	c.(805-807)agC>agT	p.S269S	C1QTNF6_uc003aqw.1_Silent_p.S250S|C1QTNF6_uc003aqy.1_Silent_p.S269S|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	250						collagen		p.S269S(2)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGAGGTGGCCGCTGAAGGTGA	0.657000														76			22		0	0	1	0	0
ALKBH2	121642	broad.mit.edu	37	12	109530459	109530459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109530459C>T	uc001tnx.2	-	1	526	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	ALKBH2_uc001tny.2_Missense_Mutation_p.A45T|ALKBH2_uc010sxj.1_Missense_Mutation_p.A45T|ALKBH2_uc009zvd.2_Missense_Mutation_p.A45T|ALKBH2_uc010sxk.1_Missense_Mutation_p.A45T	NM_001145374	NP_001138847	Q6NS38	ALKB2_HUMAN	Homo sapiens alkB, alkylation repair homolog 2 (E. coli) (ALKBH2), transcript variant 1, mRNA.	45					DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	DNA-N1-methyladenine dioxygenase activity|cytosine C-5 DNA demethylase activity|damaged DNA binding|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TTCCCTGGGGCCTCTCTCCTG	0.597000								Direct reversal of damage						308			63		0	0	1	0	0
GPR12	2835	broad.mit.edu	37	13	27333952	27333952	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27333952G>A	uc021rhk.1	-	0	13	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	GPR12_uc010aal.3_Silent_p.L5L|GPR12_uc010tdl.2_Intron	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	5						integral to plasma membrane				endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		TTGACCTTCAGGTCTTCATTC	0.478000														127			26		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32894330	32894330	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32894330T>C	uc003amq.3	+	8	1665	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	FBXO7_uc003amt.3_Missense_Mutation_p.I382T|FBXO7_uc003amu.3_Missense_Mutation_p.I347T|FBXO7_uc003amv.3_Missense_Mutation_p.I160T	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	461					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAGACCCAATCAGTTCACTC	0.552000														179			36		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4938987	4938987	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4938987C>A	uc002cyd.1	-	18	2479	c.2389G>T	c.(2389-2391)Gct>Tct	p.A797S		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	797					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						ACCTTTACAGCTTGCTGGTAC	0.512000														624			139		5.62627e-71	7.19143e-71	1	1	0
FRAS1	80144	broad.mit.edu	37	4	79421054	79421054	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79421054C>T	uc003hlb.2	+	60	9735	c.9295C>T	c.(9295-9297)Cga>Tga	p.R3099*	FRAS1_uc003hlc.1_Nonsense_Mutation_p.R101*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3094	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCAAAGAGCCGAGTCTTGAA	0.483000														178			49		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762652	53762652	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762652G>A	uc002qbi.2	+	0	1108	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	342					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCTCTCTTCGATAATTCCAG	0.463000														233			51		0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31289171	31289171	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31289171G>A	uc003aiy.1	+	8	2036	c.1932G>A	c.(1930-1932)tgG>tgA	p.W644*	OSBP2_uc011ala.1_Nonsense_Mutation_p.W478*|OSBP2_uc010gwc.1_Nonsense_Mutation_p.W471*|OSBP2_uc011alb.1_Nonsense_Mutation_p.W595*|OSBP2_uc003aiz.1_Nonsense_Mutation_p.W643*|OSBP2_uc003aja.1_Nonsense_Mutation_p.W277*|OSBP2_uc011alc.2_Nonsense_Mutation_p.W386*|OSBP2_uc011ald.1_Nonsense_Mutation_p.W188*|OSBP2_uc010gwd.1_Nonsense_Mutation_p.W189*	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	644					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGAGCCTCTGGCAGGAGATCA	0.592000														90			16		0	0	1	0	0
TSTD2	158427	broad.mit.edu	37	9	100365039	100365039	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100365039G>T	uc004axn.3	-	9	1751	c.1263C>A	c.(1261-1263)taC>taA	p.Y421*	TSTD2_uc004axo.3_Nonsense_Mutation_p.Y195*	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese)-like domain containing 2 (TSTD2), mRNA.	421										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GGGCTCCACAGTATGAACACT	0.512000														108			25		5.35356e-11	6.06456e-11	1	1	0
SLC17A9	63910	broad.mit.edu	37	20	61598818	61598818	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61598818G>T	uc002yea.4	+	12	1461	c.1277G>T	c.(1276-1278)aGg>aTg	p.R426M	SLC17A9_uc002ydz.4_Missense_Mutation_p.R420M|SLC17A9_uc011aap.1_3'UTR	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	426					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CAGGCTCAGAGGGTGGACCTG	0.612000														250			28		4.22769e-11	4.79992e-11	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140573455	140573455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140573455G>A	uc003lix.3	+	0	1504	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	444	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCTCCGACGTCAATGACAA	0.587000														227			62		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107626718	107626718	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107626718C>T	uc003vev.2	-	3	747	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	LAMB1_uc003vew.2_Missense_Mutation_p.A172T|LAMB1_uc003vex.3_Missense_Mutation_p.A172T|LAMB1_uc010ljn.1_Missense_Mutation_p.A258T	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	172	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.S195F(1)|p.A172T(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAACGAGGCCTCACAGTCA	0.463000														113			24		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113603721	113603721	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113603721C>T	uc001tuq.4	-	12	1559	c.1531G>A	c.(1531-1533)Gtt>Att	p.V511I	DDX54_uc001tup.3_Missense_Mutation_p.V511I	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	511					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTATCAGCAACGCGGGCCAGG	0.662000														167			45		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26501669	26501669	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501669G>T	uc002rgz.3	+	8	881	c.630_splice	c.e8+1	p.E210_splice	HADHB_uc010ykv.2_Splice_Site_p.E188_splice|HADHB_uc010ykw.2_Splice_Site_p.E195_splice|HADHB_uc010ykx.2_Splice_Site_p.E136_splice	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	210					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGCACCTGAGGTAAGGCTTG	0.418000														138			26		1.32003e-05	1.38661e-05	1	1	0
MYO10	4651	broad.mit.edu	37	5	16701471	16701471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16701471G>A	uc003jft.4	-	24	3501	c.3033C>T	c.(3031-3033)agC>agT	p.S1011S	MYO10_uc011cnc.2_5'Flank|MYO10_uc011cnd.2_Silent_p.S368S|MYO10_uc011cne.2_Silent_p.S368S|MYO10_uc010itx.3_Silent_p.S634S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1011					axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GGCCGTGCTCGCTGGGGTTGG	0.612000														91			11		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305787	43305787	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305787T>C	uc003oux.3	-	9	6027	c.5949A>G	c.(5947-5949)caA>caG	p.Q1983Q	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1983					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GATGGACATCTTGTAGCTCCA	0.453000														131			43		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170349386	170349386	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170349386C>T	uc010zdh.1	+	5	447	c.389C>T	c.(388-390)gCt>gTt	p.A130V	KBTBD10_uc002uet.3_Missense_Mutation_p.A130V|KBTBD10_uc010fpw.3_Missense_Mutation_p.A130V	NM_152384	NP_689597	O60662	KBTBA_HUMAN	Homo sapiens Bardet-Biedl syndrome 5 (BBS5), mRNA.	0					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						TTTCATAGAGCTTATGAAACT	0.279000														34			5		0	0	1	0	0
ASB11	140456	broad.mit.edu	37	X	15301646	15301646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15301646C>T	uc004cwp.2	-	6	972	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	ASB11_uc004cwo.2_Missense_Mutation_p.R297Q|ASB11_uc010net.2_Missense_Mutation_p.R301Q|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	318	SOCS box.				intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TAGGAGGAATCGTTCGAGTGG	0.498000														233			82		0	0	1	0	0
TCL6	27004	broad.mit.edu	37	14	96128914	96128914	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96128914A>C	uc001yep.1	+	4		c.1043A>C			TCL6_uc021sbf.1_Intron|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_5'Flank|TCL6_uc001yet.1_5'Flank|TCL6_uc001yeu.2_5'Flank|TCL6_uc001yev.2_5'Flank|TCL1B_uc021sbi.1_5'Flank|TCL1B_uc001yew.3_5'Flank|TCL1B_uc001yex.3_5'Flank|TCL1B_uc010avj.3_5'Flank					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		CAACCACACAAAGAGGAAGAG	0.383000			T	TRA@	T-ALL									211			21		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41742154	41742154	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41742154G>T	uc003azw.3	+	13	1823	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	552					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AAGCGCGGCAGCCTCACCATC	0.647000														209			39		3.33393e-15	3.94119e-15	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125652725	125652725	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125652725C>A	uc010mwc.1	-	3	690	c.449G>T	c.(448-450)aGa>aTa	p.R150I	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.R150I|RC3H2_uc004bne.4_Missense_Mutation_p.R150I|RC3H2_uc011lzg.2_Missense_Mutation_p.R150I|RC3H2_uc004bng.1_Missense_Mutation_p.R150I	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	150						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCGCATGGCTCTTACACGACC	0.502000														101			31		2.85442e-18	3.44571e-18	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72821392	72821392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72821392C>T	uc002fck.3	-	9	11456	c.10783G>A	c.(10783-10785)Gac>Aac	p.D3595N	AK021563_uc002fcj.1_Intron|ZFHX3_uc002fcl.3_Missense_Mutation_p.D2681N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3595					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGGGGCTGTCGTTTGAGTGA	0.642000														170			59		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347597	91347597	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347597T>C	uc001tbj.3	-	0	1357	c.923A>G	c.(922-924)gAa>gGa	p.E308G		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	308	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcatcttcgacctcttc	0.527000														188			21		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147929756	147929756	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147929756C>A	uc021yfj.1	-	1	143	c.96G>T	c.(94-96)atG>atT	p.M32I	HTR4_uc021yfg.1_Missense_Mutation_p.M32I|HTR4_uc021yfh.1_Missense_Mutation_p.M32I|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Missense_Mutation_p.M32I|HTR4_uc011dby.1_Missense_Mutation_p.M32I|HTR4_uc003lpn.3_Missense_Mutation_p.M32I|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Missense_Mutation_p.M32I|SH3TC2_uc003lpp.1_Non-coding_Transcript	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	32					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCAAGATGGCCATCAGGATAA	0.537000														106			28		7.01153e-11	7.92827e-11	1	1	0
PPM1H	57460	broad.mit.edu	37	12	63195669	63195669	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63195669C>T	uc001srk.3	-	2	832	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	228	PP2C-like.						phosphoprotein phosphatase activity	p.T227fs*12(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GGTAAAGAAGCGTGTGGGGGG	0.642000														176			17		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6837372	6837372	+	Missense_Mutation	SNP	A	G	G	rs2303978		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6837372A>G	uc002knc.3	+	2	3557	c.346A>G	c.(346-348)Atc>Gtc	p.I116V	ARHGAP28_uc002kne.3_Missense_Mutation_p.I9V|ARHGAP28_uc010wzi.2_5'UTR	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TAAGCAATCTATCAGGGATGT	0.468000														67			15		0	0	1	0	0
CEP170	9859	broad.mit.edu	37	1	243328278	243328278	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243328278C>T	uc021plo.1	-	12	3392	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_uc021plp.1_Missense_Mutation_p.R897H|CEP170_uc021plq.1_Missense_Mutation_p.R897H|CEP170_uc001hzv.1_Missense_Mutation_p.R373H	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	995	Targeting to microtubules.					centriole|microtubule|spindle		p.R995C(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408000														113			12		0	0	1	0	0
CLCA3P	9629	broad.mit.edu	37	1	87101745	87101745	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87101745A>C	uc010osh.2	+	2		c.425A>C								Homo sapiens chloride channel accessory 3, pseudogene (CLCA3P), non-coding RNA.											endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						TTTACTCCAAACTTCTTGTTG	0.363000														71			23		0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	39991439	39991439	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:39991439G>T	uc003thh.4	+	0	1481	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	CDK13_uc003thi.4_Missense_Mutation_p.S400I	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	400					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AGTCCCTACAGCCCTGTGCTC	0.662000														132			19		2.27731e-05	2.38354e-05	1	1	0
SLC45A2	51151	broad.mit.edu	37	5	33944779	33944779	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33944779C>T	uc003jid.3	-	6	1659	c.1567G>A	c.(1567-1569)Gct>Act	p.A523T		NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	523					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ACAAAGAGAGCGACAAAGCAA	0.512000														69			17		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943361	44943361	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44943361G>A	uc003coc.4	+	7	982	c.909G>A	c.(907-909)acG>acA	p.T303T		NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	303					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T303T(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGAACCTCACGGTGGACACCT	0.542000														86			20		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70954552	70954552	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70954552A>G	uc002ezr.3	-	45	7875	c.7724T>C	c.(7723-7725)tTt>tCt	p.F2575S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2576										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)				CAAGCCTTCAAAGTCTGGTGT	0.592000														47			8		0	0	1	0	0
GDF10	2662	broad.mit.edu	37	10	48429256	48429256	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:48429256G>A	uc001jfb.3	-	1	1058	c.630C>T	c.(628-630)gtC>gtT	p.V210V	GDF10_uc009xnp.3_Silent_p.V209V|GDF10_uc009xnq.2_Silent_p.V210V	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	210					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCGCCTTGACGATGGGGG	0.726000														77			31		0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5498209	5498209	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5498209C>T	uc001iia.3	+	10	1495	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*	NET1_uc010qar.2_Nonsense_Mutation_p.R272*|NET1_uc001iib.3_Nonsense_Mutation_p.R399*|NET1_uc010qas.2_Nonsense_Mutation_p.R272*	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	Homo sapiens neuroepithelial cell transforming 1 (NET1), transcript variant 1, mRNA.	453	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell growth|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGGCTCCTTTCGAGGAGCTTT	0.448000														65			11		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62592748	62592748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62592748C>T	uc002yhl.1	-	15	2395	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	781					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TACTTCCCTGCCAGGTGGGCC	0.592000														124			7		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27225599	27225599	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27225599C>T	uc002hde.4	-	4	1121	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Missense_Mutation_p.A282T|DHRS13_uc010wba.2_Missense_Mutation_p.A251T|AX795351_uc002hdf.3_Non-coding_Transcript	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	332						extracellular region	binding|oxidoreductase activity	p.E331Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GAAGATGGGGCCTCTGAGTCC	0.612000														39			7		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64082498	64082498	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082498C>T	uc001nzq.1	+	5	945	c.768C>T	c.(766-768)gaC>gaT	p.D256D	ESRRA_uc001nzr.1_Silent_p.D255D|ESRRA_uc001nzs.1_Silent_p.D256D|ESRRA_uc009ypn.1_Non-coding_Transcript|ESRRA_uc021qku.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	256	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGCTGTCTGACCAGATGTCAG	0.667000														50			4		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132358437	132358437	+	Silent	SNP	G	A	A	rs144758147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132358437G>A	uc003eov.4	-	4	981	c.601C>T	c.(601-603)Cta>Tta	p.L201L		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACTCCGATAGCTGTTGCATG	0.388000														83			17		0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69596055	69596055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69596055G>A	uc004dyg.3	+	17	2172	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	KIF4A_uc010nkw.3_Missense_Mutation_p.E677K|KIF4A_uc004dyf.2_Missense_Mutation_p.E677K	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	677	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACAGTTAAAAGAACGAGTAAG	0.378000														38			4		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144992998	144992998	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144992998T>C	uc003zaf.1	-	31	11572	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_uc003zab.1_Missense_Mutation_p.N3664S|PLEC_uc003zac.1_Missense_Mutation_p.N3668S|PLEC_uc003zad.2_Missense_Mutation_p.N3664S|PLEC_uc003zae.1_Missense_Mutation_p.N3632S|PLEC_uc003zag.1_Missense_Mutation_p.N3642S|PLEC_uc003zah.2_Missense_Mutation_p.N3650S|PLEC_uc003zaj.2_Missense_Mutation_p.N3691S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3801	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657000														156			20		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135822208	135822208	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135822208C>T	uc003eqv.2	+	11	3829	c.3212C>T	c.(3211-3213)gCg>gTg	p.A1071V	PPP2R3A_uc011blz.2_Missense_Mutation_p.A335V|PPP2R3A_uc003eqw.2_Missense_Mutation_p.A450V	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	1071					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCCCTTTGCGGTCCAGAAG	0.413000														71			12		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	480749	480749	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:480749C>T	uc002kkm.3	-	1	231	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	6					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCCTCCTCTGCGAAGTCGTCT	0.552000														120			25		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20135100	20135100	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135100T>C	uc002gwq.3	+	5	2211	c.2101T>C	c.(2101-2103)Tca>Cca	p.S701P	SPECC1_uc010cqx.3_Missense_Mutation_p.S701P|SPECC1_uc002gwr.3_Missense_Mutation_p.S701P|SPECC1_uc002gws.3_Missense_Mutation_p.S701P|SPECC1_uc002gwv.3_Missense_Mutation_p.S620P|SPECC1_uc010vzf.2_Missense_Mutation_p.S41P|SPECC1_uc002gwu.3_Missense_Mutation_p.S620P|SPECC1_uc002gwt.3_Missense_Mutation_p.S620P	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	701						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGAACAGAAGTCAGACCTGGA	0.488000														156			16		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84311055	84311055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84311055G>A	uc021zcf.1	-	14	1289	c.1259C>T	c.(1258-1260)gCc>gTc	p.A420V	SNAP91_uc011dzd.2_5'UTR|SNAP91_uc003pka.3_Missense_Mutation_p.A418V|SNAP91_uc011dze.2_Missense_Mutation_p.A418V|SNAP91_uc003pkc.3_Missense_Mutation_p.A418V|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.A383V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	420	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AGAAGCTGAGGCAGTTGCAAT	0.463000														36			12		0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218520115	218520115	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:218520115C>T	uc001hlm.3	+	0	1440	c.72C>T	c.(70-72)tgC>tgT	p.C24C	TGFB2_uc001hll.3_Silent_p.C24C|TGFB2_uc001hln.3_Silent_p.C24C|TGFB2_uc010pue.2_Non-coding_Transcript|TGFB2_uc001hlo.3_Non-coding_Transcript	NM_003238	NP_003229	P61812	TGFB2_HUMAN	Homo sapiens transforming growth factor, beta 2 (TGFB2), transcript variant 2, mRNA.	24					SMAD protein import into nucleus|activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		TGTCTACCTGCAGCACACTCG	0.512000														164			45		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100119107	100119107	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119107G>A	uc010avs.3	+	1	867	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	HHIPL1_uc001ygl.1_Missense_Mutation_p.V268I	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	268					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	p.V268I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CAGGCTCTACGTCTACTACTC	0.617000														74			24		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7323996	7323996	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323996T>C	uc002ggv.3	+	1	220	c.195T>C	c.(193-195)atT>atC	p.I65I	SPEM1_uc010vtw.1_5'UTR	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	65					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ATGATACCATTTGTGAGAAAG	0.567000														131			42		0	0	1	0	0
PGLS	25796	broad.mit.edu	37	19	17628198	17628198	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17628198G>T	uc002ngw.3	+	3	548	c.498_splice	c.e3+1	p.Q166_splice		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	166						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						CCCTCCTACAGGTGAGCACAC	0.622000														266			24		6.21321e-17	7.43302e-17	1	1	0
C9orf139	401563	broad.mit.edu	37	9	139929414	139929414	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139929414G>A	uc004ckp.1	+	2	1995	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	161										cervix(1)|lung(2)	3	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.99e-05)|Epithelial(140;0.000493)		GGGTCAGAACGAAAGCCTCTC	0.632000														206			44		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108051379	108051379	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108051379C>A	uc001tmk.1	+	16	3720	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M	BTBD11_uc001tml.1_Missense_Mutation_p.L604M|BTBD11_uc001tmm.1_Missense_Mutation_p.L146M	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	1067						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						CAAGCAGCTCCTGTATGACAA	0.473000														106			33		3.99451e-17	4.78557e-17	1	1	0
LRIF1	55791	broad.mit.edu	37	1	111490729	111490729	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111490729T>C	uc001eaa.3	-	3	2418	c.2162A>G	c.(2161-2163)aAt>aGt	p.N721S	LRIF1_uc001dzz.3_Missense_Mutation_p.N185S|LRIF1_uc001eab.3_Missense_Mutation_p.N185S	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	Homo sapiens ligand dependent nuclear receptor interacting factor 1 (LRIF1), transcript variant 1, mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						ATAATTTTTATTGAAGAAATG	0.368000														164			18		0	0	1	0	0
FUT6	2528	broad.mit.edu	37	19	5832292	5832292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5832292C>T	uc002mdf.1	-	3	813	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FUT6_uc021unl.1_Missense_Mutation_p.R96H|FUT6_uc002mdg.1_Missense_Mutation_p.R96H|FUT6_uc002mdh.1_Missense_Mutation_p.R96H|FUT6_uc021unm.1_Missense_Mutation_p.R96H	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ATACACCTTGCGGTCGGCAGT	0.627000														148			46		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73828501	73828501	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73828501G>A	uc002sje.1	+	18	12160	c.12049G>A	c.(12049-12051)Gca>Aca	p.A4017T	ALMS1_uc002sjf.1_Missense_Mutation_p.A3975T|ALMS1_uc002sjh.1_Missense_Mutation_p.A3405T	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4017					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGGCTACCTGGCAGGCCCAGG	0.572000														151			51		0	0	1	0	0
HERC6	55008	broad.mit.edu	37	4	89317258	89317258	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89317258G>T	uc011cdi.2	+	5	1034	c.851G>T	c.(850-852)aGa>aTa	p.R284I	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.R284I|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	284					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CTTGTGGAAAGAATTGATGGC	0.428000														78			18		6.94344e-10	7.75807e-10	1	1	0
SLC5A3	6526	broad.mit.edu	37	21	35469406	35469406	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35469406G>T	uc021wir.1	+	0	1909	c.1909G>T	c.(1909-1911)Gct>Tct	p.A637S	SLC5A3_uc002yto.3_Missense_Mutation_p.A637S|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	637						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TGGGCAAGCAGCTCTCATGGG	0.478000														139			7		0.00307968	0.00313564	1	1	0
MLIP	90523	broad.mit.edu	37	6	53989480	53989480	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53989480C>T	uc011dxa.2	+	2	495	c.462C>T	c.(460-462)agC>agT	p.S154S	MLIP_uc003pcf.2_Silent_p.S143S|MLIP_uc003pcg.4_Silent_p.S143S|MLIP_uc003pch.4_Silent_p.S81S|MLIP_uc011dwz.1_Silent_p.S102S	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	143						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						AGGCTGCAAGCAGAAAAGTTG	0.517000														172			29		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25450686	25450686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25450686G>A	uc002wux.1	-	17	3368	c.3294C>T	c.(3292-3294)aaC>aaT	p.N1098N	NINL_uc010gdn.1_Silent_p.N749N	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1098					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTCCCAGATCGTTTTTCAACA	0.507000											OREG0025846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		288			58		0	0	1	0	0
ZNF66	0	broad.mit.edu	37	19	20976744	20976744	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20976744G>A	uc002npe.3	+	2		c.461G>A								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		AGGTCAAAAAGAAAGCCAGTC	0.393000														37			7		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812884	45812884	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45812884G>T	uc011bai.2	-	5	884	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.L217M	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	254					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CCGAAGCCCAGGCCAAGTGAG	0.582000														114			27		5.61819e-17	6.72451e-17	1	1	0
LST1	7940	broad.mit.edu	37	6	31555449	31555449	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31555449C>T	uc010jsw.3	+	0	32	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	LST1_uc021yus.1_Silent_p.G17G|LST1_uc003nut.3_Intron|LST1_uc003nuo.3_Intron|LST1_uc003nup.3_Intron|LST1_uc010jss.2_Silent_p.G17G|LST1_uc003nuq.3_Intron|LST1_uc003nuu.3_Non-coding_Transcript|LST1_uc021yut.1_Intron|LST1_uc010jst.2_Intron|LST1_uc010jsu.2_Silent_p.G17G|LST1_uc010jsx.3_Silent_p.G17G|LST1_uc003nus.3_Intron	NM_205838	NP_995310	O00453	LST1_HUMAN	Homo sapiens leukocyte specific transcript 1 (LST1), transcript variant 3, mRNA.	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						TGGGGCTGGGCGGGCTCCTGC	0.622000														21			6		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117718173	117718173	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117718173A>G	uc003pxp.1	-	6	883	c.684T>C	c.(682-684)taT>taC	p.Y228Y	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	228	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GCCTTAAGTTATAACCCAAAA	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									166			34		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171307	77171307	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77171307C>A	uc010xfg.2	+	1	1485	c.1032C>A	c.(1030-1032)ccC>ccA	p.P344P	NFATC1_uc002lnc.1_Silent_p.P344P|NFATC1_uc010xff.1_Silent_p.P344P|NFATC1_uc002lnd.3_Silent_p.P344P|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Silent_p.P344P|NFATC1_uc010xfi.1_Silent_p.P331P|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Silent_p.P331P|NFATC1_uc002lng.3_Silent_p.P331P|NFATC1_uc010xfk.2_Silent_p.P331P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	344					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		AGCAGCCGCCCTCAGTGGCGC	0.687000														133			26		1.64293e-13	1.91604e-13	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81972512	81972512	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81972512C>T	uc002fgt.3	+	28	3483	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1102	C2.				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						TTCAAGACGACGGTTGTGAGT	0.512000														37			7		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157186485	157186485	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157186485C>T	uc002tyz.4	-	2	636	c.214G>A	c.(214-216)Gac>Aac	p.D72N	NR4A2_uc021vri.1_Missense_Mutation_p.D72N|NR4A2_uc002tyx.4_Missense_Mutation_p.D9N|NR4A2_uc010zcf.2_Missense_Mutation_p.D72N|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	72					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGCTTGACGTCGTAGCCTGTG	0.498000														215			10		0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695426	247695426	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247695426G>A	uc021pmb.1	-	0	388	c.388C>T	c.(388-390)Cca>Tca	p.P130S	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.P130S	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TAATGGAGTGGCCTGCAGATG	0.587000														69			15		0	0	1	0	0
DPH1	1801	broad.mit.edu	37	17	1943817	1943817	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1943817C>T	uc010vqs.2	+	7	976	c.970C>T	c.(970-972)Cga>Tga	p.R324*	DPH1_uc002fts.3_Nonsense_Mutation_p.R314*|DPH1_uc002ftt.3_Nonsense_Mutation_p.R298*|DPH1_uc010cjx.3_Nonsense_Mutation_p.R174*|DPH1_uc002ftv.3_Nonsense_Mutation_p.R70*|DPH1_uc002ftw.3_Nonsense_Mutation_p.R42*|OVCA2_uc002ftx.3_5'Flank	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	314					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						ATCTCGACTCCGAGCCTTGGG	0.577000														150			24		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929970	121929970	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:121929970A>T	uc004bkc.2	-	7	2134	c.1678T>A	c.(1678-1680)Ttc>Atc	p.F560I		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	560					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAGACAAAGAACATGGGGTCC	0.557000														116			8		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42178258	42178258	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42178258C>T	uc003xow.2	+	15	1770	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	IKBKB_uc010lxh.2_3'UTR|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Silent_p.N249N|IKBKB_uc010lxj.2_Silent_p.N305N|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.N526N|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.N469N	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	528					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATTAGGAGAACGAAGTGAAAC	0.567000														160			34		0	0	1	0	0
RGS17	26575	broad.mit.edu	37	6	153347642	153347642	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153347642C>T	uc003qpm.3	-	2	312	c.156G>A	c.(154-156)gcG>gcA	p.A52A		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	Homo sapiens regulator of G-protein signaling 17 (RGS17), mRNA.	52					negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	p.A52A(2)|p.A52V(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TGGGTCTTCCCGCATTTTCCC	0.388000														140			25		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343685	38343685	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38343685G>T	uc010qev.2	+	3	755	c.651G>T	c.(649-651)aaG>aaT	p.K217N	ZNF33A_uc001izg.3_Missense_Mutation_p.K211N|ZNF33A_uc001izh.3_Missense_Mutation_p.K210N|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.K211N	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGCATGAGAAGATTCAAACTT	0.358000														64			14		1.05317e-09	1.17384e-09	1	1	0
SEC13	6396	broad.mit.edu	37	3	10342953	10342953	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10342953C>T	uc003bvn.3	-	8	1083	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SEC13_uc003bvl.3_Missense_Mutation_p.E253K|SEC13_uc003bvm.3_Missense_Mutation_p.E307K|SEC13_uc003bvp.3_Missense_Mutation_p.E324K|SEC13_uc003bvo.3_Missense_Mutation_p.E367K	NM_183352	NP_001129704	P55735	SEC13_HUMAN	Homo sapiens SEC13 homolog (S. cerevisiae) (SEC13), transcript variant 1, mRNA.	321					COPII vesicle coating|intracellular protein transport|mRNA transport|mitotic prometaphase|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	ER to Golgi transport vesicle membrane|Nup107-160 complex|cytosol|endoplasmic reticulum membrane	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						TGTCACTGCTCGTTCTGCTGG	0.607000														133			36		0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147131305	147131305	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147131305G>A	uc003ewe.3	+	2	2030	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	437	Ser-rich.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCCACAGTGCGCTCTCTTCCA	0.493000														168			49		0	0	1	0	0
ARMCX2	9823	broad.mit.edu	37	X	100911224	100911224	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100911224C>T	uc010nnt.2	-	4	2160	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	ARMCX2_uc004eid.2_Missense_Mutation_p.A451T|ARMCX2_uc004eie.3_Missense_Mutation_p.A451T|ARMCX2_uc004eif.3_Missense_Mutation_p.A451T|ARMCX2_uc004eig.3_Missense_Mutation_p.A451T|ARMCX2_uc022caq.1_Missense_Mutation_p.A451T	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	451						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TTATTCATGGCCATTAAGGCT	0.413000														152			40		0	0	1	0	0
ABO	28	broad.mit.edu	37	9	136132863	136132863	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136132863C>T	uc004cda.1	-	6	329	c.304G>A	c.(304-306)Gac>Aac	p.D102N	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_Intron|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	103					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		TTGAGGATGTCGATGTTGAAT	0.552000														108			20		0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808354	8808354	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8808354G>A	uc002mkl.2	-	0	819	c.698C>T	c.(697-699)gCg>gTg	p.A233V		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	233						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGCATCTCCGCCAGGAAGGC	0.642000														124			36		0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12974144	12974144	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974144C>T	uc001rav.3	+	5	782	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	DDX47_uc009zhw.1_Missense_Mutation_p.R62C|DDX47_uc001rax.3_Missense_Mutation_p.R62C|DDX47_uc001ray.3_Missense_Mutation_p.R62C|DDX47_uc010shn.1_Missense_Mutation_p.R62C	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	62	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCTTTTAGGTCGTGATATCAT	0.448000														173			27		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67309352	67309352	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67309352T>G	uc002jif.2	-	1	1406	c.188A>C	c.(187-189)aAt>aCt	p.N63T	ABCA5_uc002jig.2_Missense_Mutation_p.N63T|ABCA5_uc002jih.2_Missense_Mutation_p.N63T|ABCA5_uc010dfe.2_Missense_Mutation_p.N63T	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	63					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GAGTTCTATATTAGGCACTTC	0.289000														49			10		0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868179	58868179	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58868179C>T	uc002qsh.2	-	2	1106	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.A275T|ZNF497_uc021vcw.1_Missense_Mutation_p.A275T|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGGACAGGCGTGTGGCCGT	0.736000														21			3		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197097665	197097665	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197097665G>A	uc001gtu.3	-	9	3148	c.2891C>T	c.(2890-2892)gCc>gTc	p.A964V	ASPM_uc001gtv.3_Missense_Mutation_p.A964V|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	964	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTGTAACGGCAAAATCAAA	0.398000														124			22		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30915873	30915873	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30915873C>T	uc009yjk.1	-	22	3228	c.3159G>A	c.(3157-3159)caG>caA	p.Q1053Q	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Silent_p.Q712Q|DCDC5_uc009yjj.2_Non-coding_Transcript	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	0					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CCACCACGGGCTGCACAGGGC	0.488000														124			26		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136409370	136409370	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136409370C>T	uc002tuo.3	+	16	2061	c.1691C>T	c.(1690-1692)cCt>cTt	p.P564L	R3HDM1_uc010fni.3_Missense_Mutation_p.P563L|R3HDM1_uc002tup.3_Missense_Mutation_p.P509L|R3HDM1_uc010zbh.2_Missense_Mutation_p.P312L	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	564							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGTTCTGACCCTCATGCCGCC	0.502000														303			100		0	0	1	0	0
OPALIN	93377	broad.mit.edu	37	10	98105750	98105750	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98105750A>G	uc001kmj.3	-	5	813	c.374T>C	c.(373-375)aTg>aCg	p.M125T	OPALIN_uc010qor.2_Missense_Mutation_p.M115T|OPALIN_uc001kmi.3_Missense_Mutation_p.M115T|OPALIN_uc001kmk.3_Missense_Mutation_p.M102T|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	125						Golgi apparatus|integral to membrane|plasma membrane		p.M125T(2)|p.M115T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						CCTTCTTTCCATTTCTATAGT	0.517000														170			35		0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785487	178785487	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785487C>T	uc003fjg.3	-	1	385	c.54G>A	c.(52-54)tcG>tcA	p.S18S	ZMAT3_uc003fji.3_Silent_p.S18S	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	18					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding	p.P17S(2)|p.S18S(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ACATAGGAGGCGAGGGTGAGG	0.572000														224			60		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41962075	41962075	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41962075T>C	uc010ucy.2	+	1	1164	c.983T>C	c.(982-984)aTa>aCa	p.I328T	MGA_uc001zog.1_Missense_Mutation_p.I328T|MGA_uc010ucz.2_Missense_Mutation_p.I328T	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	328						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCCTTAATATAAAACGAGAC	0.408000														34			8		0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66429998	66429998	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66429998C>A	uc002eom.4	+	7	1410	c.1254C>A	c.(1252-1254)ttC>ttA	p.F418L		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	418	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGGGCCAGTTCTTCCGAGTCA	0.488000														129			34		5.71845e-15	6.74756e-15	1	1	0
AP5S1	55317	broad.mit.edu	37	20	3804798	3804798	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3804798C>A	uc002wju.2	+	2	708	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	AP5S1_uc002wjt.3_Missense_Mutation_p.L77M|AP5S1_uc002wjs.2_Missense_Mutation_p.L153M|AP5S1_uc021wab.1_Missense_Mutation_p.L153M	NM_018347	NP_060817	Q9NUS5	CT029_HUMAN	Homo sapiens chromosome 20 open reading frame 29 (C20orf29), transcript variant 2, mRNA.	153					double-strand break repair via homologous recombination		protein binding										CCTCCGGCTGCTGGCGCCCAG	0.632000														99			16		0.000308642	0.000318063	1	1	0
KIAA0930	23313	broad.mit.edu	37	22	45601152	45601152	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45601152C>A	uc003bfv.1	-	3	675	c.489G>T	c.(487-489)gaG>gaT	p.E163D	KIAA0930_uc003bfx.1_Missense_Mutation_p.E154D|KIAA0930_uc010gzw.1_Missense_Mutation_p.E6D|KIAA0930_uc003bfw.1_Missense_Mutation_p.E159D|KIAA0930_uc010gzx.2_Missense_Mutation_p.E136D	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN	Homo sapiens KIAA0930 (KIAA0930), transcript variant 2, mRNA.	154							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						TCTTGGACTCCTCCCCCTTGC	0.567000														125			30		1.55811e-20	1.90328e-20	1	1	0
SPG20	23111	broad.mit.edu	37	13	36878678	36878678	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878678T>C	uc001uvn.3	-	9	2095	c.1825A>G	c.(1825-1827)Atc>Gtc	p.I609V	SPG20_uc010ten.2_Missense_Mutation_p.I599V|SPG20_uc001uvm.3_Missense_Mutation_p.I609V|SPG20_uc001uvo.3_Missense_Mutation_p.I609V|SPG20_uc001uvq.3_Missense_Mutation_p.I609V	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	609					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ATTGCTTTGATACCAATGTTG	0.418000														144			20		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95566220	95566220	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95566220C>T	uc001ydw.2	-	22	4315	c.4103G>A	c.(4102-4104)cGc>cAc	p.R1368H	DICER1_uc010avh.1_Missense_Mutation_p.R266H|DICER1_uc021sbc.1_Missense_Mutation_p.R1368H|DICER1_uc001ydv.2_Missense_Mutation_p.R1358H|DICER1_uc001ydx.2_Missense_Mutation_p.R1368H|DICER1_uc001ydy.1_Missense_Mutation_p.R220H|DICER1_uc021sbd.1_Missense_Mutation_p.R650H	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1368	RNase III 1.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CACCACCATGCGGCTGGGTAG	0.403000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					141			29		0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980176	58980176	+	Missense_Mutation	SNP	G	A	A	rs149377168	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58980176G>A	uc001nnu.4	-	0	319	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	55	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCCACATTCCGCAGATTGTCC	0.488000														284			76		0	0	1	0	0
LATS2	26524	broad.mit.edu	37	13	21562824	21562824	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21562824G>T	uc009zzs.3	-	3	1460	c.1095C>A	c.(1093-1095)acC>acA	p.T365T	LATS2_uc001unr.4_Silent_p.T365T	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	365					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GCTGGACGGAGGTGCTGCCCA	0.726000														107			12		4.36969e-10	4.89342e-10	1	1	0
ZNF614	80110	broad.mit.edu	37	19	52520505	52520505	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52520505G>T	uc002pyj.3	-	4	748	c.346C>A	c.(346-348)Ctc>Atc	p.L116I	ZNF614_uc002pyi.4_Missense_Mutation_p.L116I|ZNF614_uc010epj.3_5'UTR	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GTCTTGCTGAGATGTACAATA	0.358000														64			14		1.15088e-07	1.24477e-07	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228469832	228469832	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228469832C>A	uc009xez.1	+	30	8440	c.8396C>A	c.(8395-8397)gCt>gAt	p.A2799D	OBSCN_uc001hsn.3_Missense_Mutation_p.A2799D|OBSCN_uc001hsp.1_Missense_Mutation_p.A498D|OBSCN_uc001hsq.1_Missense_Mutation_p.A55D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2799	Ig-like 27.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGGGAGGCTGCACCAAGT	0.657000														74			7		8.12818e-05	8.44191e-05	1	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87448966	87448966	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87448966C>A	uc002fjz.1	-	8	1007	c.980G>T	c.(979-981)aGc>aTc	p.S327I	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.S103I	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	327					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCAGTAAGGCTCAAAAACTT	0.393000														97			14		1.49906e-05	1.573e-05	1	1	0
XRN1	54464	broad.mit.edu	37	3	142095328	142095328	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142095328T>C	uc003eus.3	-	23	2891	c.2824A>G	c.(2824-2826)Agg>Ggg	p.R942G	XRN1_uc010huu.3_Missense_Mutation_p.R408G|XRN1_uc003eut.3_Missense_Mutation_p.R942G|XRN1_uc003euu.3_Missense_Mutation_p.R942G|XRN1_uc003euv.1_Missense_Mutation_p.R803G	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	942					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TACTTTCTCCTAGATCCTCTT	0.308000														34			8		0	0	1	0	0
HMGCR	3156	broad.mit.edu	37	5	74639762	74639762	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74639762C>T	uc011cst.2	+	2	562	c.310C>T	c.(310-312)Cgt>Tgt	p.R104C	HMGCR_uc003kdp.3_Missense_Mutation_p.R84C|HMGCR_uc003kdq.3_Missense_Mutation_p.R84C|HMGCR_uc010izn.1_5'Flank	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	84					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CCAGAATTTACGTCAACTTGG	0.328000														69			9		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29429662	29429662	+	Missense_Mutation	SNP	C	T	T	rs78689148		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429662C>T	uc002kxc.4	-	24	3966	c.3602G>A	c.(3601-3603)cGa>cAa	p.R1201Q	TRAPPC8_uc002kxb.4_Missense_Mutation_p.R1147Q|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1201					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATAAACTTCGATAAAAGAA	0.328000														57			13		0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499500	141499500	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141499500G>T	uc011bnd.2	+	1	981	c.897G>T	c.(895-897)caG>caT	p.Q299H		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	299	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.A298A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACTCGGCCCAGATAGCCTGTG	0.547000														86			23		2.70639e-06	2.8733e-06	1	1	0
SLC9A7	84679	broad.mit.edu	37	X	46480434	46480434	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:46480434G>T	uc004dgu.1	-	14	1806	c.1798C>A	c.(1798-1800)Ctg>Atg	p.L600M		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	600					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTGTACCACAGCCTGAATATC	0.463000														29			10		4.68919e-08	5.11014e-08	1	1	0
RFTN2	130132	broad.mit.edu	37	2	198460774	198460774	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198460774T>C	uc002uuo.4	-	7	1576	c.1174A>G	c.(1174-1176)Aag>Gag	p.K392E		NM_144629	NP_653230	Q52LD8	RFTN2_HUMAN	Homo sapiens raftlin family member 2 (RFTN2), mRNA.	392						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						ACGATCTGCTTTGTAGCCAAA	0.328000														40			10		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408493	29408493	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408493G>A	uc011dlp.2	+	0	778	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R233H(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCGGGCCGCCGCAAGGCCTTC	0.592000														645			27		0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95519306	95519306	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95519306G>A	uc001pfn.2	-	3	652	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	114										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTCCTTCCGATCAAAAGCA	0.353000														147			20		0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34678849	34678849	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34678849G>A	uc001zii.3	-	2	371	c.262C>T	c.(262-264)Ctg>Ttg	p.L88L	GOLGA8A_uc001zih.3_5'Flank	NM_181077	NP_851422	A7E2F4	GOG8A_HUMAN	Homo sapiens golgin A8 family, member A (GOLGA8A), transcript variant 1, mRNA.	116						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GTGTCATTCAGTCGACTGATT	0.567000														171			21		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4583161	4583161	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4583161C>T	uc003zij.2	+	10	1570	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	439					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	TCATTGCTGTCGACTGGCTCC	0.612000														271			39		0	0	1	0	0
ZC3H4	23211	broad.mit.edu	37	19	47588377	47588377	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47588377C>T	uc002pga.4	-	7	1081	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	348	Gly-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCCTCCTCGGCTGCCACCTCG	0.597000														319			69		0	0	1	0	0
MMP15	4324	broad.mit.edu	37	16	58079274	58079274	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58079274C>T	uc002ena.3	+	9	2907	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	645					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CTCACCTACGCGCTGGTGCAG	0.652000														19			8		0	0	1	0	0
KIAA0664	23277	broad.mit.edu	37	17	2600078	2600078	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2600078C>T	uc002fuy.1	-	10	2092	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	KIAA0664_uc002fux.1_Missense_Mutation_p.S601N|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	669							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GCTGGCGCTGCTACCCTCCTC	0.657000														127			39		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10346788	10346788	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10346788C>A	uc002gmn.3	-	39	5835	c.5724G>T	c.(5722-5724)gaG>gaT	p.E1908D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1908					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTTGGCCTCCTCCAGCTCGT	0.468000														175			37		9.8876e-21	1.20929e-20	1	1	0
IGSF10	285313	broad.mit.edu	37	3	151165609	151165609	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151165609G>A	uc011bod.2	-	3	2160	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	720					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCCGATAGTTGTGCCTCT	0.498000														73			13		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54308655	54308655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54308655C>T	uc002qcj.4	-	4	2516	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	NLRP12_uc010eqw.3_Missense_Mutation_p.A48T|NLRP12_uc002qch.4_Missense_Mutation_p.A765T|NLRP12_uc002qci.4_Missense_Mutation_p.A765T|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A766T	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	765					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCTATGAGAGCTGCAGAGAGG	0.547000														221			53		0	0	1	0	0
FADS3	3995	broad.mit.edu	37	11	61645639	61645639	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61645639A>G	uc001nsm.3	-	5	949	c.796T>C	c.(796-798)Tac>Cac	p.Y266H		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	266					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGGAAGAAGTACAGGTGCTGC	0.602000														214			46		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100591811	100591811	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100591811G>A	uc002bvv.1	-	16	2500	c.2421C>T	c.(2419-2421)agC>agT	p.S807S		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	807	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.H806L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTTCCCAGCCGCTGTGGGTCC	0.527000														318			58		0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996534	10996534	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10996534G>A	uc002daj.4	+	7	784	c.651G>A	c.(649-651)tcG>tcA	p.S217S	CIITA_uc002dai.4_Silent_p.S216S|CIITA_uc002dak.4_Silent_p.S167S|CIITA_uc002dag.2_Silent_p.S216S|CIITA_uc002dah.2_Silent_p.S168S|CIITA_uc010bup.1_Silent_p.S216S	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	216					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCAGTTCCTCGTTGAGCTGCC	0.522000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """									115			29		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40559106	40559106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40559106C>T	uc002yxk.2	-	41	7104	c.6809G>A	c.(6808-6810)cGa>cAa	p.R2270Q	BRWD1_uc010goc.1_Missense_Mutation_p.R913Q|BRWD1_uc021wjf.1_3'UTR	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	2270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGAAGCATTTCGATGGGGCAG	0.338000														72			18		0	0	1	0	0
KIAA0284	283638	broad.mit.edu	37	14	105353570	105353570	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105353570C>T	uc001yps.3	+	10	3090	c.2784C>T	c.(2782-2784)acC>acT	p.T928T	KIAA0284_uc010axb.3_Silent_p.T928T|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	998						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CGGGAGGCACCGCCCTGGTCA	0.682000														90			15		0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98741161	98741161	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98741161C>A	uc001kmv.3	+	0	121	c.14C>A	c.(13-15)gCt>gAt	p.A5D	C10orf12_uc009xvg.2_Missense_Mutation_p.A315D	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	5										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CAGAGTTCAGCTTTAGTAGAA	0.393000														81			9		7.48243e-07	8.00842e-07	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20522684	20522684	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20522684C>T	uc001reh.2	+	0	506	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	156					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CGCCGGGGTGCGCCTGCCTCT	0.697000														86			15		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453615	53453615	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453615A>G	uc002qal.2	-	4	1764	c.1413T>C	c.(1411-1413)caT>caC	p.H471H	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Silent_p.H471H|ZNF816_uc002qam.2_Silent_p.H471H	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GAAGTGTATGATGGTATTGAA	0.413000														128			23		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58144864	58144864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58144864G>A	uc001spv.3	-	3	656	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	CDK4_uc010ssb.2_Missense_Mutation_p.R2C|CDK4_uc001spw.3_Intron|DM110804_uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	122	Protein kinase.		R -> H (in dbSNP:rs34386532).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			AGAAACTGGCGCATCAGATCC	0.473000			Mis			melanoma			Hereditary Melanoma					122			30		0	0	1	0	0
SLC25A2	83884	broad.mit.edu	37	5	140682987	140682987	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140682987C>T	uc003ljf.3	-	0	626	c.446G>A	c.(445-447)aGc>aAc	p.S149N		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	149					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGTATTATGGCTTTTTGCTAT	0.488000														202			46		0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246288	45246288	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45246288T>C	uc001myo.3	+	7	1614	c.1365T>C	c.(1363-1365)gtT>gtC	p.V455V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	455										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGAAGGTTCGGGAGCTCC	0.547000														436			87		0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72853880	72853880	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72853880G>T	uc002aut.4	+	5	1108	c.794G>T	c.(793-795)aGc>aTc	p.S265I		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	265					ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	p.N264T(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						ATAACAAATAGCTTTGTAGAG	0.259000														28			5		0.000602214	0.000618135	1	1	0
H2BFM	286436	broad.mit.edu	37	X	103295409	103295409	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103295409C>T	uc004els.2	+	1	471	c.443C>T	c.(442-444)gCg>gTg	p.A148V		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						tcattatgtgcgatatggcaa	0.378000														19			9		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166231251	166231251	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166231251T>G	uc002udc.3	+	21	4319	c.4029T>G	c.(4027-4029)gtT>gtG	p.V1343V	SCN2A_uc002udd.3_Silent_p.V1343V|SCN2A_uc002ude.3_Silent_p.V1343V	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1343					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TACTTCTGGTTTGTCTGATCT	0.378000														124			7		0	0	1	0	0
DPF1	8193	broad.mit.edu	37	19	38709239	38709239	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38709239T>G	uc021uty.1	-	4	598	c.571A>C	c.(571-573)Agg>Cgg	p.R191R	DPF1_uc002ohm.3_Silent_p.R191R|DPF1_uc002ohl.3_Silent_p.R191R|DPF1_uc002ohn.3_Silent_p.R109R|DPF1_uc010xtw.1_Silent_p.R165R	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	191					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCTTCCTCCTGGGAATGTCA	0.537000														111			20		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100389759	100389759	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100389759G>T	uc003uwj.3	+	41	7863	c.7698G>T	c.(7696-7698)gaG>gaT	p.E2566D	ZAN_uc003uwk.3_Missense_Mutation_p.E2566D|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.S560I	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2567					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGCCCCAGAGCCCTTCCAAG	0.667000														44			8		2.17888e-05	2.28139e-05	1	1	0
BIRC2	329	broad.mit.edu	37	11	102220830	102220830	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102220830A>G	uc001pgy.3	+	1	1644	c.245A>G	c.(244-246)aAa>aGa	p.K82R	BIRC2_uc010ruq.2_Missense_Mutation_p.K33R|BIRC2_uc010rur.2_Missense_Mutation_p.K82R	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	82					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		GACAAGGTCAAATGCTTCTGT	0.428000														114			29		0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17545008	17545008	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17545008G>A	uc001mnf.3	-	9	886	c.777C>T	c.(775-777)gtC>gtT	p.V259V	USH1C_uc001mne.3_Silent_p.V259V|USH1C_uc009yhb.3_Silent_p.V259V|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Silent_p.V223V	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	259	PDZ 2.				G2/M transition of mitotic cell cycle|equilibrioception|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATTGACTTCGACAATCTGGT	0.537000														70			12		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	721923	721923	+	Missense_Mutation	SNP	C	T	T	rs113238749		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:721923C>T	uc002cip.3	+	12	1135	c.1018C>T	c.(1018-1020)Ccc>Tcc	p.P340S	RHOT2_uc002ciq.3_Missense_Mutation_p.P233S|RHOT2_uc010bqy.3_Missense_Mutation_p.P119S	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	340					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCCAGCAGCGCCCTGGGGCCC	0.677000														274			71		0	0	1	0	0
DSCC1	79075	broad.mit.edu	37	8	120855907	120855907	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855907A>G	uc003yov.3	-	4	793	c.658T>C	c.(658-660)Tct>Cct	p.S220P		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA.	220					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACCAAAAGACCATGATTCA	0.358000														209			50		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115418	158115418	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115418G>A	uc002tzg.3	+	0	1079	c.824G>A	c.(823-825)aGt>aAt	p.S275N	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	275				NTS -> AEG (in Ref. 2).	glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCAATACGAGTCTTCCTTTT	0.423000														153			16		0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34619141	34619141	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34619141A>C	uc002yrd.3	+	4	668	c.340A>C	c.(340-342)Agc>Cgc	p.S114R	IFNAR2_uc002yrb.3_Missense_Mutation_p.S114R|IFNAR2_uc002yrc.3_Missense_Mutation_p.S114R|IFNAR2_uc002yre.3_Missense_Mutation_p.S114R|IFNAR2_uc002yrf.3_Missense_Mutation_p.S114R|IFNAR2_uc002yri.1_5'Flank|IFNAR2_uc002yrh.1_5'Flank	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	114					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGAAGGATTCAGCGGGAACAC	0.468000														48			18		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75982969	75982969	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75982969A>G	uc002baw.3	-	2	530	c.437T>C	c.(436-438)cTc>cCc	p.L146P		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	146	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCCAACAAAGAGCCCATAGGG	0.647000														148			7		0	0	1	0	0
INSM2	84684	broad.mit.edu	37	14	36004387	36004387	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36004387G>A	uc001wth.1	+	0	1140	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	Homo sapiens insulinoma-associated 2 (INSM2), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		GCCTCCCATCGCCGCTGGCAT	0.682000														132			20		0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56063887	56063887	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56063887G>A	uc010giu.3	-	3		c.796C>T			CTCFL_uc010giv.3_Non-coding_Transcript			Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.						DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTCTTGTCCGCCTTTGCCAT	0.438000														221			48		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42360546	42360546	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42360546C>T	uc001wvm.3	+	3	2677	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	493	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATGATGATGGCATCACTTCCC	0.458000										HNSCC(30;0.082)				224			56		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006154	43006154	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006154G>A	uc003otq.3	-	24	4956	c.4624C>T	c.(4624-4626)Cgg>Tgg	p.R1542W	CUL7_uc010jyg.3_Missense_Mutation_p.R821W|CUL7_uc011dvb.2_Missense_Mutation_p.R1626W|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1542					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGATGAGCCGCACAATGTCC	0.542000														122			22		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799706	39799706	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39799706G>A	uc021olw.1	+	0	2766	c.2766G>A	c.(2764-2766)caG>caA	p.Q922Q	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2487	SH3.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTTGTGCAGTCCATTGACA	0.413000														176			41		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414937	14414937	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:14414937G>T	uc002yiy.3	+	2		c.374_splice	c.e2+1		ANKRD30BP2_uc002yja.4_Splice_Site					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		CTCTGATGAAGGTAAATGGTA	0.398000														56			5		0.184627	0.184976	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110442244	110442244	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110442244C>A	uc003yne.3	+	26	3311	c.3207C>A	c.(3205-3207)gtC>gtA	p.V1069V		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1069	IPT/TIG 4.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCCCTAGTCTTGGCGATAA	0.368000										HNSCC(38;0.096)				26			4		1.23904e-05	1.3016e-05	1	1	0
C18orf25	147339	broad.mit.edu	37	18	43842923	43842923	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43842923A>T	uc002lbw.3	+	4	1433	c.1054A>T	c.(1054-1056)Agt>Tgt	p.S352C	C18orf25_uc002lbx.3_Missense_Mutation_p.S291C	NM_145055	NP_659492	Q96B23	CR025_HUMAN	Homo sapiens chromosome 18 open reading frame 25 (C18orf25), transcript variant 1, mRNA.	352										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TGTGATTCAGAGTGTTTCTTC	0.483000														123			17		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144231	33144231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33144231G>T	uc003ocx.1	-	26	2376	c.2148C>A	c.(2146-2148)taC>taA	p.Y716*	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Nonsense_Mutation_p.Y630*|COL11A2_uc003ocz.1_Nonsense_Mutation_p.Y609*	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	716	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GAGGTCCTGGGTATCCTAGAG	0.572000														52			10		0.000442599	0.000455268	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17615330	17615330	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17615330G>A	uc002ngu.1	+	11	1900	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	SLC27A1_uc010xpp.1_Missense_Mutation_p.R438Q|SLC27A1_uc002ngv.1_Missense_Mutation_p.R219Q	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	617					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ACCTCAGACCGGCTCTTCTTC	0.597000														150			33		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151682954	151682954	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151682954C>T	uc010ipj.3	-	34	5870	c.5626G>A	c.(5626-5628)Gaa>Aaa	p.E1876K	LRBA_uc003ilt.4_Missense_Mutation_p.E535K|LRBA_uc003ilu.4_Missense_Mutation_p.E1876K	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1876						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTGACAAGTTCGATAAAAGCA	0.294000														88			11		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127417664	127417664	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127417664G>A	uc001liq.1	+	6	1178	c.885G>A	c.(883-885)gaG>gaA	p.E295E	C10orf137_uc001lin.3_Intron|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Intron	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATGACGGGGAGCACAGTCAGG	0.453000														8			4		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153695925	153695925	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153695925G>A	uc004flm.3	+	19	3652	c.3479G>A	c.(3478-3480)cGc>cAc	p.R1160H		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1160	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GGCAGCTCCCGCCTCAACTAC	0.657000														24			6		0	0	1	0	0
BSDC1	55108	broad.mit.edu	37	1	32842030	32842030	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32842030G>A	uc001bvi.3	-	8	1087	c.1040C>T	c.(1039-1041)cCc>cTc	p.P347L	BSDC1_uc001bvh.4_Missense_Mutation_p.P330L|BSDC1_uc010ohg.2_Missense_Mutation_p.P347L|BSDC1_uc010ohh.2_Missense_Mutation_p.P274L|BSDC1_uc010ohi.2_Missense_Mutation_p.P235L|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Missense_Mutation_p.P226L			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	330							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTGAATAGGGGGTGAGGGTCC	0.637000														260			25		0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99976659	99976659	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99976659A>G	uc001ygi.4	+	10	1413	c.1283A>G	c.(1282-1284)tAc>tGc	p.Y428C		NM_001099402	NP_001092872	O75909	CCNK_HUMAN	Homo sapiens cyclin K (CCNK), mRNA.	428					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CCCTCCAGCTACATGACCGGG	0.682000														17			3		0	0	1	0	0
HAO2	51179	broad.mit.edu	37	1	119929252	119929252	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119929252C>T	uc001ehr.1	+	4	701	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HAO2_uc001ehq.1_Missense_Mutation_p.A190V	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	190	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TAGGGAAATGCAATACCTTAT	0.428000														94			17		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216040414	216040414	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216040414C>A	uc001hku.1	-	43	9167	c.8780G>T	c.(8779-8781)aGa>aTa	p.R2927I		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2927	Fibronectin type-III 16.				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)		ATTGGCTCCTCTCTCTGGAAG	0.468000										HNSCC(13;0.011)				84			23		7.41877e-09	8.17068e-09	1	1	0
C10orf12	26148	broad.mit.edu	37	10	98744054	98744054	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98744054C>T	uc001kmv.3	+	0	3014	c.2907C>T	c.(2905-2907)ggC>ggT	p.G969G		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	969										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		TCAGCCCCGGCCCTAATTCTG	0.483000														144			36		0	0	1	0	0
HTR1F	3355	broad.mit.edu	37	3	88040023	88040023	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88040023T>C	uc003dqr.2	+	1	282	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	HTR1F_uc021xbd.1_Missense_Mutation_p.S42P	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	42					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AACTATCAACTCCCTTGTGAT	0.453000														203			21		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68863587	68863587	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68863587C>A	uc002ewg.1	+	14	2450	c.2326C>A	c.(2326-2328)Ctg>Atg	p.L776M	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.L715M	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	776					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GCACAGGGGCCTGGACGCTCG	0.507000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					88			24		7.87624e-14	9.21814e-14	1	1	0
NPR3	4883	broad.mit.edu	37	5	32712326	32712326	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32712326G>A	uc003jhv.3	+	0	889	c.444G>A	c.(442-444)tcG>tcA	p.S148S	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Silent_p.S148S	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	148					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGCTTGCATCGCACTGGGACC	0.706000														285			55		0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38019351	38019351	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38019351G>T	uc003atc.3	+	7	1014	c.627G>T	c.(625-627)gaG>gaT	p.E209D	GGA1_uc003ate.3_Missense_Mutation_p.E209D|GGA1_uc003atd.3_Missense_Mutation_p.E209D|GGA1_uc003atf.3_Missense_Mutation_p.E136D	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	209	GAT.|Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AGCGGATGGAGAAGATCTCGA	0.587000											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		417			67		1.31171e-36	1.66389e-36	1	1	0
ZNF665	79788	broad.mit.edu	37	19	53678811	53678811	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53678811A>G	uc010eqm.1	-	2	129	c.29T>C	c.(28-30)tTc>tCc	p.F10S		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CACATCCTTGAATGTCAACTG	0.413000														169			20		0	0	1	0	0
LMNB2	84823	broad.mit.edu	37	19	2435154	2435154	+	Missense_Mutation	SNP	G	A	A	rs148936043		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2435154G>A	uc002lvy.3	-	4	727	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	214	Linker 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCCGCCGCGTCTCCCGC	0.682000														146			26		0	0	1	0	0
STX18	53407	broad.mit.edu	37	4	4421790	4421790	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4421790A>G	uc003gic.3	-	10	1063	c.979T>C	c.(979-981)Ttg>Ctg	p.L327L		NM_016930	NP_058626	Q9P2W9	STX18_HUMAN	Homo sapiens syntaxin 18 (STX18), mRNA.	327					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		AGGAAGAGCAAGGAGAAGGAG	0.567000														44			7		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35075020	35075020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35075020C>T	uc003zwb.1	-	11	2032	c.1540G>A	c.(1540-1542)Gca>Aca	p.A514T	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|FANCG_uc010mkj.1_Missense_Mutation_p.A256T	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	514					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGGCGGCTGCCCGAAGCTGC	0.567000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						124			14		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78208882	78208882	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78208882C>T	uc010bky.2	-	13	1615	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	LOC645752_uc010umq.1_5'Flank|DQ572823_uc002bcw.1_5'Flank|DQ582073_uc002bcx.1_5'Flank					Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TGGCGTGGGCCGAGGCGCCTC	0.632000														215			14		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42568884	42568884	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42568884G>T	uc003clf.2	+	5	524	c.400_splice	c.e5-1	p.Q134_splice	VIPR1_uc021wwl.1_Splice_Site_p.Q93_splice|VIPR1_uc011azn.2_Splice_Site_p.Q107_splice|VIPR1_uc011azl.1_Intron|VIPR1_uc011azm.1_Intron	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	134					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CCCTCCAACAGCAGCAGACCA	0.617000														139			23		7.87624e-14	9.21814e-14	1	1	0
UBQLN1	29979	broad.mit.edu	37	9	86293476	86293476	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293476C>A	uc004amv.3	-	4	1324	c.750G>T	c.(748-750)gaG>gaT	p.E250D	UBQLN1_uc004amw.3_Missense_Mutation_p.E250D	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	250					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TCCTCATCATCTCCTGCATCA	0.403000														508			93		7.15876e-41	9.10423e-41	1	1	0
NUMBL	9253	broad.mit.edu	37	19	41173718	41173718	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41173718C>T	uc002oon.3	-	9	1653	c.1485G>A	c.(1483-1485)ccG>ccA	p.P495P	NUMBL_uc010xvq.2_Silent_p.P454P|NUMBL_uc010xvr.2_Silent_p.P454P|NUMBL_uc002ooo.3_Silent_p.P494P	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	495					cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			AGCCCAAGCCCGGGTAGGCGG	0.687000														23			11		0	0	1	0	0
AK302879	0	broad.mit.edu	37	15	76073005	76073005	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76073005A>C	uc010umm.1	+	4	394	c.317A>C	c.(316-318)aAa>aCa	p.K106T	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		GAAATACACAAAGCACAGATG	0.478000														105			16		0	0	1	0	0
FBXO7	25793	broad.mit.edu	37	22	32875119	32875119	+	Missense_Mutation	SNP	G	T	T	rs139135860	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32875119G>T	uc003amq.3	+	1	557	c.274G>T	c.(274-276)Gat>Tat	p.D92Y	FBXO7_uc003amp.1_Splice_Site|FBXO7_uc003amt.3_Splice_Site_p.D13_splice|FBXO7_uc003amu.3_5'UTR	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	92					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCATCCACAGATTCAGAGCA	0.433000														189			65		6.2918e-36	7.97367e-36	1	1	0
DHX15	1665	broad.mit.edu	37	4	24538792	24538792	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:24538792T>C	uc003gqx.3	-	10	1959	c.1791A>G	c.(1789-1791)ccA>ccG	p.P597P	DHX15_uc003gqv.3_5'Flank|DHX15_uc003gqw.3_Silent_p.P20P	NM_001358	NP_001349	O43143	DHX15_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 15 (DHX15), mRNA.	597					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CAAAACACTGTGGGACTAAAC	0.507000														34			15		0	0	1	0	0
NPNT	255743	broad.mit.edu	37	4	106858269	106858269	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106858269G>A	uc011cfd.2	+	4	672	c.459G>A	c.(457-459)ccG>ccA	p.P153P	NPNT_uc011cfc.2_Silent_p.P140P|NPNT_uc011cfe.2_Silent_p.P153P|NPNT_uc003hya.3_Silent_p.P123P|NPNT_uc011cff.2_Silent_p.P123P	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	123	EGF-like 3.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGCTCATGCCGGATGGTTCCT	0.468000														160			36		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55903635	55903635	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55903635C>A	uc021tir.1	-	4	672	c.526G>T	c.(526-528)Ggt>Tgt	p.G176C	CES5A_uc002eip.2_Missense_Mutation_p.G147C|CES5A_uc002eio.2_Missense_Mutation_p.G147C|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Missense_Mutation_p.G41C	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	147						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TTGAAGGCACCTCCTGGGAAC	0.587000														35			9		0.00621372	0.00630477	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23545395	23545395	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23545395A>G	uc002nre.3	-	3	499	c.386T>C	c.(385-387)gTg>gCg	p.V129A	ZNF91_uc010xrj.2_Missense_Mutation_p.V97A	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTCATCCACACTTTTACA	0.348000														93			11		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130902	161130902	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161130902C>T	uc010pkc.2	+	2	849	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	USP21_uc010pkd.2_Missense_Mutation_p.R158C	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	158					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R158H(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CACTTCTCTCCGCCGCCTAGG	0.652000														167			29		0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039800	166039800	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039800C>T	uc021pef.1	-	1	937	c.464G>A	c.(463-465)aGc>aAc	p.S155N	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGCACATTGCTGTCACTCAC	0.527000														281			92		0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12052696	12052696	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12052696G>A	uc001atn.4	+	3	713	c.260G>A	c.(259-261)gGc>gAc	p.G87D	MFN2_uc009vni.3_Missense_Mutation_p.G87D	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	87					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AAAGTGAGAGGCATCAGTGAG	0.532000														280			61		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136917482	136917482	+	Silent	SNP	G	A	A	rs61731642	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136917482G>A	uc004cew.3	-	2	485	c.297C>T	c.(295-297)agC>agT	p.S99S	BRD3_uc004cex.2_Silent_p.S99S	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	99	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GCATACATTCGCTTGCACTCC	0.373000			T	C15orf55	lethal midline carcinoma of young people									104			17		0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910711	61910711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61910711C>T	uc010deb.1	-	10	1704	c.1387G>A	c.(1387-1389)Gac>Aac	p.D463N	SMARCD2_uc010wpt.1_Missense_Mutation_p.D415N|SMARCD2_uc010dea.1_Missense_Mutation_p.D388N	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	463					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						TCCTGGGGGTCGGTGCTAAAA	0.547000														122			27		0	0	1	0	0
DPF3	8110	broad.mit.edu	37	14	73159903	73159903	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73159903T>G	uc001xnc.2	-	6	636	c.623A>C	c.(622-624)aAg>aCg	p.K208T	DPF3_uc001xnd.1_Non-coding_Transcript|DPF3_uc001xnf.2_Non-coding_Transcript|DPF3_uc010ari.1_Missense_Mutation_p.K208T|DPF3_uc010ttq.1_Missense_Mutation_p.K218T	NM_012074	NP_036206	Q92784	DPF3_HUMAN	Homo sapiens D4, zinc and double PHD fingers, family 3 (DPF3), mRNA.	208					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CGGTCGGTTCTTGTAGCGCTT	0.547000														143			25		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288713	17288713	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17288713A>G	uc002zlv.3	-	1	349	c.251T>C	c.(250-252)aTc>aCc	p.I84T	XKR3_uc011agf.2_Missense_Mutation_p.I84T	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	84						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AAACATCAGGATAATTTGATC	0.338000														72			24		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62194454	62194454	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194454C>T	uc002yfm.2	-	8	6613	c.5721G>A	c.(5719-5721)ccG>ccA	p.P1907P	PRIC285_uc002yfl.1_Silent_p.P1338P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1907					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GGCTGAAGCCCGGTGCCACCG	0.701000														29			6		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116747782	116747782	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116747782C>T	uc011ebg.2	+	2	618	c.519C>T	c.(517-519)tcC>tcT	p.S173S	DSE_uc011ebf.1_Silent_p.S154S|DSE_uc003pws.3_Silent_p.S154S|DSE_uc003pwt.3_Silent_p.S154S	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	154					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTGCTCACTCCCTGGTTGGTT	0.448000														132			25		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139397682	139397682	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139397682C>T	uc004chz.3	-	26	5119	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	NOTCH1_uc004cia.1_Missense_Mutation_p.A937T	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1707					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.L1707_A1708ins14(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCAGCGAGGCGAGCGCTCCC	0.642000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				98			23		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84213008	84213008	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84213008G>T	uc002fhn.3	-	13	2391	c.2149C>A	c.(2149-2151)Ctc>Atc	p.L717I	TAF1C_uc010vnz.2_Missense_Mutation_p.L385I|TAF1C_uc002fho.3_Missense_Mutation_p.L240I|TAF1C_uc010voa.2_Missense_Mutation_p.L385I|TAF1C_uc002fhm.3_Missense_Mutation_p.L623I|TAF1C_uc010vnx.2_Missense_Mutation_p.L691I|TAF1C_uc010vny.2_Missense_Mutation_p.L308I	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	717					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						CGCTCACTGAGCTTGTCCTCT	0.716000														138			11		5.50884e-06	5.8131e-06	1	1	0
MED13	9969	broad.mit.edu	37	17	60062374	60062374	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60062374C>T	uc002izo.3	-	12	2540	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	821					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGCAAGATAACGGGTCCAGAT	0.378000														175			31		0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128632105	128632105	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128632105G>T	uc003ifk.2	+	13	2510	c.2407G>T	c.(2407-2409)Gtt>Ttt	p.V803F	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	803										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTTCCACTACGTTGCCTTAGA	0.353000														64			21		1.2644e-06	1.3491e-06	1	1	0
TCN1	6947	broad.mit.edu	37	11	59631526	59631526	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59631526G>T	uc001noj.2	-	1	211	c.113C>A	c.(112-114)cCt>cAt	p.P38H		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	38					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATTCAACAGAGGTTTTAGGCG	0.428000														160			19		7.45023e-12	8.53574e-12	1	1	0
GJB6	10804	broad.mit.edu	37	13	20797589	20797589	+	Missense_Mutation	SNP	C	T	T	rs104894415		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20797589C>T	uc001und.4	-	2	418	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	GJB6_uc001umz.4_Missense_Mutation_p.G11R|GJB6_uc001unb.4_Missense_Mutation_p.G11R|GJB6_uc001unc.4_Missense_Mutation_p.G11R|GJB6_uc001una.4_Missense_Mutation_p.G11R|GJB6_uc021rhb.1_Missense_Mutation_p.G11R	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	11			G -> R (in ED2).	G -> E (in Ref. 9; AAV67951).	cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		TTGACACCCCCGATGAAAGTG	0.507000														189			33		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51516165	51516165	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51516165C>T	uc010ric.2	+	0	884	c.884C>T	c.(883-885)gCc>gTc	p.A295V		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGAAAAATGCCATCAGGAAA	0.343000														85			20		0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72103910	72103910	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72103910G>A	uc002ati.3	+	1	396	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NR2E3_uc002ath.1_Missense_Mutation_p.G69D	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	69			Missing (in ESCS).		phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						GGCTGCAGCGGCTTCTTCAAG	0.672000														32			3		0	0	1	0	0
COMMD1	150684	broad.mit.edu	37	2	62132863	62132863	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:62132863A>C	uc002sbp.3	+	0	61	c.50A>C	c.(49-51)aAt>aCt	p.N17T		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	17					copper ion homeostasis|negative regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|regulation of proteasomal ubiquitin-dependent protein catabolic process	Cul2-RING ubiquitin ligase complex|cell junction|cytoplasm|nucleolus	copper ion binding|protein homodimerization activity			large_intestine(1)|liver(2)|lung(5)|ovary(1)	9	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;4.73e-07)|Epithelial(17;0.0216)|all cancers(80;0.0934)			GGGCTGCTGAATGCGCTGGCC	0.692000														34			18		0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35741771	35741771	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35741771G>A	uc011lpd.2	-	4	1201	c.702C>T	c.(700-702)taC>taT	p.Y234Y	GBA2_uc003zxw.3_Silent_p.Y228Y|GBA2_uc011lpb.1_Silent_p.Y228Y|GBA2_uc011lpc.1_Silent_p.Y228Y|GBA2_uc003zxy.1_5'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	228					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGGGCATGGTAGAAAGCAA	0.592000														175			42		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72057309	72057309	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72057309T>G	uc001swo.2	-	0	441	c.82A>C	c.(82-84)Agt>Cgt	p.S28R	ZFC3H1_uc010sts.2_Missense_Mutation_p.S28R|ZFC3H1_uc001swp.3_Missense_Mutation_p.S28R|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	28					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCGTCGTCACTGATTTCCCCA	0.647000											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		390			94		0	0	1	0	0
ADCY10	55811	broad.mit.edu	37	1	167793916	167793916	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167793916C>T	uc001ger.3	-	26	4226	c.3928G>A	c.(3928-3930)Gga>Aga	p.G1310R	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.G1157R|ADCY10_uc009wvk.3_Missense_Mutation_p.G1218R	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1310					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCCAGGTGTCCCATTATGAGC	0.498000														298			84		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	956377	956377	+	Missense_Mutation	SNP	C	T	T	rs140567391		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:956377C>T	uc003gbw.3	-	17	2134	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	DGKQ_uc010ibn.3_Missense_Mutation_p.R674H	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	687	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCCCCCAGCGGAGGACTCG	0.652000														92			23		0	0	1	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185278210	185278210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:185278210C>T	uc001grl.3	-	3	829	c.206G>A	c.(205-207)gGa>gAa	p.G69E	IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	69	BTB.				RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GTGAGAAATTCCATGAGGATC	0.378000														46			19		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64607741	64607741	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64607741C>T	uc001obs.4	-	5	433	c.433_splice	c.e5-1	p.Y145_splice		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	145	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCACAAGGTACTGGAGGTGGC	0.657000														97			19		0	0	1	0	0
RSL1D1	26156	broad.mit.edu	37	16	11941533	11941533	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11941533C>T	uc002dbp.1	-	2	449	c.376G>A	c.(376-378)Gtt>Att	p.V126I	RSL1D1_uc010buv.1_Missense_Mutation_p.V126I|RSL1D1_uc010uyw.1_5'UTR|RSL1D1_uc010buw.2_Non-coding_Transcript	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	126					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						ACCTGAGAAACGGTTTTAATT	0.318000														65			17		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145741444	145741444	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145741444G>A	uc003zdj.3	-	4	1101	c.1059C>T	c.(1057-1059)taC>taT	p.Y353Y	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank|DQ579335_uc022bcp.1_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	353					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGAGCCGTACGTAATTGCCCC	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					122			26		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113405976	113405976	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113405976C>T	uc001tug.3	+	13	3188	c.3101C>T	c.(3100-3102)cCc>cTc	p.P1034L		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1034	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTCAGAAGCCCAGGTTCAGG	0.502000														49			18		0	0	1	0	0
GPR21	2844	broad.mit.edu	37	9	125797524	125797524	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125797524G>A	uc011lzk.2	+	0	679	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RABGAP1_uc004bnl.4_Intron|RABGAP1_uc011lzh.2_Intron|RABGAP1_uc011lzj.2_Intron|GPR21_uc011lzi.2_Non-coding_Transcript	NM_005294	NP_005285	Q99679	GPR21_HUMAN	Homo sapiens G protein-coupled receptor 21 (GPR21), mRNA.	227						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						GGATATCAGCGAAAGGCAAGC	0.512000														223			64		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31860299	31860299	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31860299G>A	uc003nxz.1	-	6	759	c.749C>T	c.(748-750)aCc>aTc	p.T250I	EHMT2_uc003nxy.1_Missense_Mutation_p.T41I|EHMT2_uc011don.1_Missense_Mutation_p.T307I|EHMT2_uc003nya.1_Missense_Mutation_p.T250I	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	250					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTTCGTCAGGGTCACTTCTCC	0.542000														129			24		0	0	1	0	0
FAF2	23197	broad.mit.edu	37	5	175913437	175913437	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175913437A>G	uc003mej.4	+	2	267	c.214A>G	c.(214-216)Aat>Gat	p.N72D		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	72					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						CCTGCAGGTTAATACAGCTGA	0.458000														133			15		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101748190	101748190	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101748190G>T	uc004azb.1	+	2	650	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	148	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGTCCCAAGAGGCTGCTGCCT	0.607000														251			28		3.73148e-12	4.28986e-12	1	1	0
PSMB10	5699	broad.mit.edu	37	16	67969889	67969889	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67969889G>A	uc002eux.2	-	3	488	c.360C>T	c.(358-360)cgC>cgT	p.R120R		NM_002801	NP_002792	P40306	PSB10_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 10 (PSMB10), mRNA.	120					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|humoral immune response|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GGCGCAGGATGCGAGTGACCG	0.657000														106			22		0	0	1	0	0
DOK4	55715	broad.mit.edu	37	16	57509522	57509522	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57509522A>C	uc010cdb.3	-	2	445	c.185T>G	c.(184-186)aTc>aGc	p.I62S	DOK4_uc002elv.4_Missense_Mutation_p.I62S	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN	Homo sapiens docking protein 4 (DOK4), mRNA.	62	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GACGTTGCTGATCTCAGTCAC	0.577000														32			9		0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65129424	65129424	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65129424T>G	uc001dbo.1	+	13	1950	c.1845T>G	c.(1843-1845)taT>taG	p.Y615*	CACHD1_uc001dbp.1_Nonsense_Mutation_p.Y370*|CACHD1_uc001dbq.1_Nonsense_Mutation_p.Y370*|CACHD1_uc010opa.1_5'Flank	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	666					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CCTCCCCCTATGAGCACCTCA	0.537000														353			47		0	0	1	0	0
RPL21	6144	broad.mit.edu	37	13	27829420	27829420	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:27829420C>T	uc001ura.3	+	3	214	c.171C>T	c.(169-171)taC>taT	p.Y57Y	RPL21_uc001uqz.1_Silent_p.Y15Y|SNORA27_uc001urc.1_5'Flank	NM_000982	NP_000973	P46778	RL21_HUMAN	Homo sapiens ribosomal protein L21 (RPL21), mRNA.	57					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21)		ACAAGTGTTACCATGGCAAAA	0.378000														62			20		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17449816	17449816	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17449816G>A	uc002ngg.4	+	4	740	c.645G>A	c.(643-645)gaG>gaA	p.E215E	GTPBP3_uc010xpo.2_Silent_p.E237E|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Silent_p.E215E|GTPBP3_uc002ngh.4_Silent_p.E215E	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	215					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						ACAACCTGGAGGAGGGGGTCC	0.622000														179			33		0	0	1	0	0
C6orf170	221322	broad.mit.edu	37	6	121624817	121624817	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:121624817C>T	uc003pyo.1	-	8	1094	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	342					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity	p.P342P(4)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAAAGTAGATCGGATCCAAAA	0.323000														36			6		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277244	152277244	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152277244C>T	uc001ezu.1	-	2	10154	c.10118G>A	c.(10117-10119)cGt>cAt	p.R3373H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3373	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3372T(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCGGTCACGTGCGGACTC	0.592000									Ichthyosis					726			209		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	T	T	rs114234640	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32725567C>T	uc003obz.2	-	3	823	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_uc003oby.4_Intron	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552000														36			12		0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63544452	63544452	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:63544452G>A	uc001sro.1	-	0	2139	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	55					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.E54D(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCAGCACGGCGATCTCCAGTT	0.697000														151			34		0	0	1	0	0
DNAI1	27019	broad.mit.edu	37	9	34506735	34506735	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34506735C>A	uc003zum.3	+	12	1367	c.1174C>A	c.(1174-1176)Cac>Aac	p.H392N		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	392					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCTCGACATCCACGTGGACCA	0.592000									Kartagener syndrome					136			30		1.16021e-09	1.29201e-09	1	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122958719	122958719	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122958719G>A	uc001ucn.3	-	13	1605	c.1449C>T	c.(1447-1449)gtC>gtT	p.V483V	ZCCHC8_uc001ucl.3_Silent_p.V94V|ZCCHC8_uc001ucm.3_Silent_p.V245V|ZCCHC8_uc009zxp.3_Silent_p.V245V|ZCCHC8_uc009zxq.3_Silent_p.V245V	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	483	Pro-rich.					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		GAGGGGTGAAGACGGGTGGAG	0.587000														125			28		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78701024	78701024	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78701024A>C	uc003dqe.2	-	18	2878	c.2670T>G	c.(2668-2670)atT>atG	p.I890M	ROBO1_uc003dqc.2_Missense_Mutation_p.I854M|ROBO1_uc003dqd.2_Missense_Mutation_p.I854M|ROBO1_uc003dqb.2_Missense_Mutation_p.I851M|ROBO1_uc010hoh.2_Missense_Mutation_p.I82M|ROBO1_uc011bgl.1_Missense_Mutation_p.I462M	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	890					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCACATCTGAAATCTGCTGAG	0.498000														190			50		0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54849305	54849305	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54849305G>A	uc002qfj.3	-	3	614	c.557C>T	c.(556-558)aCc>aTc	p.T186I	LILRA4_uc002qfi.3_Missense_Mutation_p.T120I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	186	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GTTGCTGAAGGTCAGGGGGCC	0.557000														87			18		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47703196	47703196	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47703196A>G	uc002eev.4	+	25	2550	c.2498A>G	c.(2497-2499)aAc>aGc	p.N833S	PHKB_uc002eeu.4_Missense_Mutation_p.N826S|PHKB_uc002eew.4_Missense_Mutation_p.N74S	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	833					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTGATTCAAAACATCATCTAT	0.403000														106			26		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157816011	157816011	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157816011G>A	uc003fbs.3	-	5	1012	c.873C>T	c.(871-873)caC>caT	p.H291H	SHOX2_uc003fbr.3_Silent_p.H267H|SHOX2_uc010hvw.3_Silent_p.H255H	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	267					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GCGCGGCCAGGTGCGGATGCA	0.672000														322			72		0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48918254	48918254	+	Silent	SNP	C	T	T	rs146313081		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48918254C>T	uc002isv.4	+	1	2299	c.1605C>T	c.(1603-1605)ggC>ggT	p.G535G	WFIKKN2_uc010dbu.3_Silent_p.G442G	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	535	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			AGGTGGACGGCGGCATGGCCA	0.632000														120			31		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237801716	237801716	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237801716C>T	uc001hyl.1	+	44	6972	c.6852C>T	c.(6850-6852)ggC>ggT	p.G2284G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2284	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTCTAAGGGCTATCCAGACA	0.433000														212			40		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54706447	54706447	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54706447T>G	uc003jpy.4	+	22	3007	c.2741T>G	c.(2740-2742)tTt>tGt	p.F914C	SKIV2L2_uc011cqi.2_Missense_Mutation_p.F813C	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	914					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCTTTGTGTTTCAAGAGAAT	0.323000														90			18		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111695078	111695078	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111695078T>A	uc003puy.4	-	12	4821	c.4480A>T	c.(4480-4482)Agg>Tgg	p.R1494W	REV3L_uc003pux.4_Missense_Mutation_p.R1416W|REV3L_uc003puz.4_Missense_Mutation_p.R1416W	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1494					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GATAACGACCTCGGTTTTACT	0.378000								DNA polymerases (catalytic subunits)						158			31		0	0	1	0	0
SPI1	6688	broad.mit.edu	37	11	47381477	47381477	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47381477C>T	uc001nfb.1	-	2	483	c.260G>A	c.(259-261)cGc>cAc	p.R87H	SPI1_uc001nfc.1_Missense_Mutation_p.R86H|SLC39A13_uc001nfd.3_Intron|SPI1_uc009ylp.1_Missense_Mutation_p.R80H	NM_001080547	NP_001074016	P17947	SPI1_HUMAN	Homo sapiens spleen focus forming virus (SFFV) proviral integration oncogene spi1 (SPI1), transcript variant 1, mRNA.	86					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of erythrocyte differentiation	nucleus	RNA binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(4)|ovary(1)	8				Lung(87;0.0967)		CTCCATGTGGCGGTAGAGCTG	0.657000														118			7		0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154660	12154660	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12154660G>A	uc021upl.1	-	3	1722	c.1556C>T	c.(1555-1557)gCc>gTc	p.A519V	ZNF878_uc002mta.1_Missense_Mutation_p.A566V	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAGGATTGAGGCAGATCTAAA	0.403000														49			5		0	0	1	0	0
CAMKMT	79823	broad.mit.edu	37	2	44617401	44617401	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44617401T>C	uc002rum.2	+	2	437	c.333T>C	c.(331-333)aaT>aaC	p.N111N	CAMKMT_uc002rul.2_Silent_p.N111N	NM_024766	NP_079042	Q7Z624	CMKMT_HUMAN	Homo sapiens calmodulin-lysine N-methyltransferase (CAMKMT), mRNA.	111						cytoplasm	calmodulin-lysine N-methyltransferase activity			breast(2)|large_intestine(3)|lung(5)	10						GATCCTTGAATGTTGAAGATG	0.303000														69			20		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907902	65907902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65907902G>A	uc002jgf.3	+	10	3963	c.3902G>A	c.(3901-3903)aGc>aAc	p.S1301N	BPTF_uc002jge.3_Missense_Mutation_p.S1427N	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1427					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATTCAGGATAGCAGTGAAGAA	0.393000														115			22		0	0	1	0	0
AFMID	125061	broad.mit.edu	37	17	76200768	76200768	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76200768C>T	uc002juz.3	+	4	394	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	AFMID_uc002jva.3_Silent_p.L114L|AFMID_uc002jvb.3_Intron	NM_001145526	NP_001138998	Q63HM1	AFMID_HUMAN	Homo sapiens arylformamidase (AFMID), transcript variant 1, mRNA.	114						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			GGTCCACCCGCTGACGGCACA	0.592000														84			13		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243543	1243543	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1243543G>A	uc002qwq.3	+	10	1012	c.883G>A	c.(883-885)Gac>Aac	p.D295N	SNTG2_uc010ewi.3_Missense_Mutation_p.D168N	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	295					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTCTCCTTCCGACCAGGTAGG	0.473000														30			9		0	0	1	0	0
ZNF550	162972	broad.mit.edu	37	19	58058796	58058796	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58058796C>T	uc002qpe.1	-	1	693	c.693G>A	c.(691-693)tcG>tcA	p.S231S	ZNF550_uc002qpc.3_Non-coding_Transcript|ZNF550_uc010eue.2_Non-coding_Transcript|ZNF550_uc002qpd.3_Non-coding_Transcript	NM_001039654	NP_001034743	Q7Z398	ZN550_HUMAN	Homo sapiens zinc finger protein 550 (ZNF550), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCATGAGGTACGACCTGCGTT	0.512000														92			22		0	0	1	0	0
PKP3	11187	broad.mit.edu	37	11	396980	396980	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:396980G>A	uc021qbk.1	+	3	553	c.524G>A	c.(523-525)aGg>aAg	p.R175K	PKP3_uc001lpc.3_Missense_Mutation_p.R160K	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	160					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCCCACCAGGCCCGTGTCC	0.721000														79			24		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660430	76660430	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660430T>C	uc003pik.1	-	12	1803	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	558					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGTGGTGATATACTGTAAAGC	0.502000														97			16		0	0	1	0	0
AGPHD1	123688	broad.mit.edu	37	15	78805579	78805579	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78805579T>C	uc010unc.2	+	1	262	c.149T>C	c.(148-150)gTc>gCc	p.V50A	AGPHD1_uc002bdt.3_Missense_Mutation_p.V50A|AGPHD1_uc010ble.3_Missense_Mutation_p.V50A	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	Homo sapiens aminoglycoside phosphotransferase domain containing 1 (AGPHD1), transcript variant 1, mRNA.	50						cytoplasm	kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9						AACTTTCATGTCTACGTTTCA	0.438000														126			28		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835588	110835588	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835588A>G	uc003kph.1	-	5	698	c.614T>C	c.(613-615)tTa>tCa	p.L205S	STARD4_uc010jbw.1_Missense_Mutation_p.L107S|STARD4_uc010jbx.1_Missense_Mutation_p.L107S|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	205	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		TGCCTCTCATAAAGCTTTTCG	0.408000														80			19		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56557601	56557601	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56557601C>T	uc002iwi.1	-	1	702	c.578G>A	c.(577-579)cGg>cAg	p.R193Q		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	193						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGAAATGACCGGTGAAATTG	0.428000														95			17		0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57803523	57803523	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57803523C>A	uc002emq.3	-	8	1399	c.1202G>T	c.(1201-1203)aGg>aTg	p.R401M	KIFC3_uc010vhw.2_Missense_Mutation_p.R299M|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.R262M|KIFC3_uc010vhx.2_Missense_Mutation_p.R262M|KIFC3_uc010cdf.3_Missense_Mutation_p.R262M|KIFC3_uc002emo.4_Missense_Mutation_p.R262M|KIFC3_uc010vhy.2_Missense_Mutation_p.R343M|KIFC3_uc002emp.3_Missense_Mutation_p.R401M|KIFC3_uc010vhz.2_Missense_Mutation_p.R423M|KIFC3_uc002emr.1_Missense_Mutation_p.R178M	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	401					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity	p.R401G(1)		breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTTGACACTCCTGAGGGCCTC	0.657000														114			22		3.10358e-05	3.24492e-05	1	1	0
KIAA1045	23349	broad.mit.edu	37	9	34972508	34972508	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34972508G>T	uc003zvq.3	+	2	722	c.544G>T	c.(544-546)Ggc>Tgc	p.G182C	KIAA1045_uc003zvr.3_Missense_Mutation_p.G182C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	182							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CACAGAAACAGGCTGGAGCTG	0.572000														154			34		1.57351e-24	1.95695e-24	1	1	0
BOC	91653	broad.mit.edu	37	3	112998114	112998114	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112998114G>T	uc003dzx.3	+	11	2453	c.1832G>T	c.(1831-1833)aGg>aTg	p.R611M	BOC_uc003dzy.3_Missense_Mutation_p.R611M|BOC_uc003dzz.3_Missense_Mutation_p.R612M|BOC_uc003eab.3_Missense_Mutation_p.R312M|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	611	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCTCCCGACAGGCCCACCATC	0.587000														127			18		1.01871e-10	1.15017e-10	1	1	0
MEGF8	1954	broad.mit.edu	37	19	42863068	42863068	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42863068G>T	uc002otl.4	+	28	5739	c.5104G>T	c.(5104-5106)Gga>Tga	p.G1702*	MEGF8_uc002otm.4_Nonsense_Mutation_p.G1310*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1769						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTGGTACAGGAGGTTTCCT	0.572000														42			5		1.23904e-05	1.3016e-05	1	1	0
WNT1	7471	broad.mit.edu	37	12	49373312	49373312	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49373312G>A	uc001rsu.3	+	1	364	c.166G>A	c.(166-168)Gta>Ata	p.V56I		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	56					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of DNA damage checkpoint|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of Notch signaling pathway|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		TCTGCAACTGGTACTCGAGCC	0.582000														190			40		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30490965	30490965	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30490965C>T	uc003tav.3	-	5	2591	c.2068G>A	c.(2068-2070)Gcc>Acc	p.A690T		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	690					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CTGCAGTCGGCCGAGCAGGCG	0.627000														169			42		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177030297	177030297	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177030297T>G	uc001glc.3	-	1	600	c.388A>C	c.(388-390)Agc>Cgc	p.S130R	ASTN1_uc001glb.1_Missense_Mutation_p.S130R|ASTN1_uc001gld.1_Missense_Mutation_p.S130R|ASTN1_uc009wwx.1_Missense_Mutation_p.S130R	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	130					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CCAGGAAGGCTTGGGGCACCA	0.537000														276			93		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56394248	56394248	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56394248G>A	uc003pcy.4	-	46	9832	c.9724C>T	c.(9724-9726)Cgg>Tgg	p.R3242W		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5654					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			caaaataCCCGAAGTTCAGAC	0.348000														59			9		0	0	1	0	0
TP53INP2	58476	broad.mit.edu	37	20	33298084	33298084	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33298084G>A	uc002xau.1	+	4	971	c.636G>A	c.(634-636)caG>caA	p.Q212Q	TP53INP2_uc021wcc.1_5'Flank	NM_021202	NP_067025	Q8IXH6	T53I2_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 2 (TP53INP2), mRNA.	212						nucleus				endometrium(1)|urinary_tract(1)	2						TCATCTACCAGCCGTGCCAGC	0.697000														28			7		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2717904	2717904	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2717904C>T	uc003zho.2	+	0	379	c.165C>T	c.(163-165)atC>atT	p.I55I		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	55						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		ACTACTACATCGAGGAAGACG	0.642000														177			36		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530082	5530082	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530082C>T	uc021qcw.1	-	0	707	c.707G>A	c.(706-708)aGc>aAc	p.S236N	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.S236N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	236										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCGGTCCTGGCTACGTATCAT	0.478000														186			32		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447893	11447893	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11447893G>A	uc002mqx.3	-	1	444	c.183C>T	c.(181-183)gtC>gtT	p.V61V		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	61					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGACGGTCTTGACCTTGAAAT	0.572000														436			93		0	0	1	0	0
SAT2	112483	broad.mit.edu	37	17	7530896	7530896	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7530896G>T	uc002gic.2	-	0	299	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron|SAT2_uc002gib.1_Non-coding_Transcript|SHBG_uc010cmz.2_5'Flank|SHBG_uc010cmv.2_5'Flank|SHBG_uc010cmw.2_5'Flank|SHBG_uc010cmx.2_5'Flank|SHBG_uc010cmy.2_5'Flank|SHBG_uc002gid.3_5'Flank|SHBG_uc002gie.2_5'Flank|SHBG_uc010cnd.2_5'Flank|SHBG_uc010cna.2_5'Flank|SHBG_uc010vue.1_5'Flank|SHBG_uc010vuf.1_5'Flank|SHBG_uc010cnb.2_5'Flank|SHBG_uc010cnc.2_5'Flank	NM_133491	NP_597998	Q96F10	SAT2_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase family member 2 (SAT2), mRNA.	20	N-acetyltransferase.					cytoplasm	diamine N-acetyltransferase activity	p.?(1)		kidney(1)|large_intestine(2)	3				READ - Rectum adenocarcinoma(115;0.166)	Spermine(DB00127)	ACCCGAATCAGCCTCAGGATA	0.677000														100			25		6.32553e-13	7.33687e-13	1	1	0
OSGIN1	29948	broad.mit.edu	37	16	83994650	83994650	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83994650T>G	uc002fha.3	+	5	710	c.710T>G	c.(709-711)gTc>gGc	p.V237G	OSGIN1_uc002fhb.3_Missense_Mutation_p.V154G|OSGIN1_uc002fhc.3_Missense_Mutation_p.V154G	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	237					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GACCTGGAGGTCAAGGACTGG	0.612000														145			30		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50694671	50694671	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50694671A>C	uc003tpi.2	-	4	555	c.509T>G	c.(508-510)gTt>gGt	p.V170G	GRB10_uc003tph.3_Missense_Mutation_p.V112G|GRB10_uc003tpj.2_Missense_Mutation_p.V170G|GRB10_uc003tpk.2_Missense_Mutation_p.V170G|GRB10_uc010kzb.2_Missense_Mutation_p.V112G|GRB10_uc003tpl.2_Missense_Mutation_p.V164G|GRB10_uc003tpm.2_Missense_Mutation_p.V112G	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	170	Ras-associating.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					AAAGACTTTAACATCCTGCAA	0.383000									Russell-Silver syndrome					258			51		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184039075	184039075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184039075C>T	uc003fnp.3	+	9	974	c.703C>T	c.(703-705)Cgg>Tgg	p.R235W	EIF4G1_uc003fno.2_Missense_Mutation_p.R176W|EIF4G1_uc010hxw.2_Missense_Mutation_p.R71W|EIF4G1_uc010hxx.3_Missense_Mutation_p.R242W|EIF4G1_uc003fnt.3_5'UTR|EIF4G1_uc010hxy.3_Missense_Mutation_p.R242W|EIF4G1_uc003fnq.3_Missense_Mutation_p.R148W|EIF4G1_uc003fnr.3_Missense_Mutation_p.R71W|EIF4G1_uc003fns.3_Missense_Mutation_p.R195W|EIF4G1_uc003fnv.4_Missense_Mutation_p.R235W|EIF4G1_uc003fnw.3_Missense_Mutation_p.R242W|EIF4G1_uc003fnx.3_Missense_Mutation_p.R39W	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	235					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGATGACCGGTCACAGGG	0.557000														217			9		0	0	1	0	0
GSTA3	2940	broad.mit.edu	37	6	52770568	52770568	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52770568A>C	uc003pbb.3	-	1	144	c.65T>G	c.(64-66)cTc>cGc	p.L22R	GSTA3_uc010jzq.3_Intron	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	22	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGCAGCCAAGAGCCACCGGAT	0.448000														107			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106452714	106452714	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106452714C>T	uc021ser.1	-	2607		c.45246G>A								Parts of antibodies, mostly variable regions.																		TCTCAGCCTGCTCAGCTCCAT	0.547000														416			46		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43912042	43912042	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912042C>A	uc001cjk.2	+	63	8940	c.6330C>A	c.(6328-6330)gcC>gcA	p.A2110A	SZT2_uc001cjl.2_Silent_p.A98A	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3009						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AACAGTTTGCCCTGGAATGTT	0.562000														122			8		1.06961e-07	1.15953e-07	1	1	0
ARMC6	93436	broad.mit.edu	37	19	19166660	19166660	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166660C>T	uc002nld.3	+	7	1648	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	ARMC6_uc002nlc.3_Missense_Mutation_p.R381C|ARMC6_uc010xql.2_Missense_Mutation_p.R313C|ARMC6_uc010xqm.2_Missense_Mutation_p.R406C	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	406							protein binding	p.R381S(1)|p.R406S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CGACAACAGCCGCATCATCGT	0.672000														296			61		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753278	42753278	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753278C>T	uc002ote.4	-	3	1144	c.986G>A	c.(985-987)cGc>cAc	p.R329H	ERF_uc002otd.4_Missense_Mutation_p.R60H	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	329					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R329C(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CAGGAAGGCGCGGGGGCTGAG	0.682000														139			21		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168310296	168310296	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168310296G>T	uc010jjg.3	-	4	879	c.459C>A	c.(457-459)ttC>ttA	p.F153L	SLIT3_uc003mab.3_Missense_Mutation_p.F153L|SLIT3_uc010jji.2_Missense_Mutation_p.F153L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	153					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding	p.A152A(1)|p.A152V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGATGCCGCGGAACGCCTTCC	0.498000														126			23		1.64293e-13	1.91604e-13	1	1	0
C19orf12	83636	broad.mit.edu	37	19	30193830	30193830	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30193830G>A	uc002nsj.3	-	2	375	c.248C>T	c.(247-249)cCg>cTg	p.P83L	C19orf12_uc002nsk.3_Missense_Mutation_p.P72L|C19orf12_uc002nsl.3_3'UTR|C19orf12_uc002nsm.3_Non-coding_Transcript	NM_001031726	NP_113636	Q9NSK7	CS012_HUMAN	Homo sapiens chromosome 19 open reading frame 12 (C19orf12), transcript variant 1, mRNA.	72						integral to membrane						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CTGAGGAACCGGCTTAAACTG	0.557000														248			30		0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588204	72588204	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72588204T>C	uc002jla.1	+	2	381	c.19T>C	c.(19-21)Tca>Cca	p.S7P	CD300LD_uc002jkz.2_Intron|C17orf77_uc021ucq.1_Missense_Mutation_p.S7P	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	7						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						ATTGGCGCTGTCATTTTCCCT	0.463000														165			32		0	0	1	0	0
TMSB10	9168	broad.mit.edu	37	2	85133188	85133188	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85133188C>T	uc002sow.1	+	1	142	c.47C>T	c.(46-48)gCc>gTc	p.A16V		NM_021103	NP_066926	P63313	TYB10_HUMAN	Homo sapiens thymosin beta 10 (TMSB10), mRNA.	16					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			endometrium(1)	1						TTCGATAAGGCCAAGCTGAAG	0.582000														87			14		0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21383304	21383304	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21383304G>A	uc001unq.4	-	10	1447	c.1411C>T	c.(1411-1413)Cga>Tga	p.R471*		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	471					protein transport	cytoplasm|nucleus	protein binding	p.R444*(1)		breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		AACTGGTCTCGATCATCCTCT	0.428000														150			21		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88946903	88946903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88946903C>T	uc001kei.4	+	7	2368	c.2254C>T	c.(2254-2256)Ctg>Ttg	p.L752L	FAM35A_uc001kej.4_Silent_p.L198L	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	752										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGAATCAAAGCTGATAGAGAA	0.383000														81			10		0	0	1	0	0
MRPL1	65008	broad.mit.edu	37	4	78808417	78808417	+	Missense_Mutation	SNP	T	C	C	rs17855456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78808417T>C	uc003hku.2	+	4	728	c.530T>C	c.(529-531)tTt>tCt	p.F177S		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	177			F -> S (in dbSNP:rs17855456).				RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						GGAGCTGCATTTGCAGGAGGC	0.328000														84			11		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176306485	176306485	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176306485G>A	uc003mey.3	+	13	2551	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	787	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTCCACCTGGACAGGTGGGC	0.677000														316			13		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774276	41774276	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774276C>T	uc003ori.3	-	3	668	c.446G>A	c.(445-447)cGc>cAc	p.R149H		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	149					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.R149C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCAGCAGGCGCTGACGCCG	0.701000														84			11		0	0	1	0	0
CLCA4	22802	broad.mit.edu	37	1	87033243	87033243	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87033243G>T	uc009wcs.3	+	6	1135	c.1091G>T	c.(1090-1092)aGc>aTc	p.S364I	CLCA4_uc009wct.3_Missense_Mutation_p.S127I|CLCA4_uc009wcu.3_Missense_Mutation_p.S184I	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	364	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CAAATAAAAAGCAGTGATGAA	0.398000														87			8		0.000978159	0.0010017	1	1	0
EML3	256364	broad.mit.edu	37	11	62376231	62376231	+	Missense_Mutation	SNP	C	T	T	rs149696913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62376231C>T	uc010rly.1	-	7	1284	c.976G>A	c.(976-978)Gct>Act	p.A326T	EML3_uc001ntr.1_Missense_Mutation_p.A298T|EML3_uc001nts.1_Missense_Mutation_p.A298T|EML3_uc001ntt.1_Missense_Mutation_p.A210T|EML3_uc001ntu.1_Missense_Mutation_p.A326T|EML3_uc009yny.1_Missense_Mutation_p.A109T			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	326						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCCACTCCAGCTGTCTGTCCC	0.527000														178			34		0	0	1	0	0
ILF3	3609	broad.mit.edu	37	19	10781680	10781680	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10781680C>T	uc002mpn.3	+	2	351	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Missense_Mutation_p.R12C|ILF3_uc002mpl.2_Missense_Mutation_p.R12C|ILF3_uc002mpk.2_Missense_Mutation_p.R12C|ILF3_uc002mpo.3_Missense_Mutation_p.R12C	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	12					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAATGATGACCGCCATGTGAT	0.468000														40			10		0	0	1	0	0
SNX1	6642	broad.mit.edu	37	15	64404870	64404870	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64404870G>T	uc002amv.3	+	1	388	c.258G>T	c.(256-258)caG>caT	p.Q86H	SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Missense_Mutation_p.Q86H|SNX1_uc002amx.3_Missense_Mutation_p.Q86H|SNX1_uc010bgw.3_Missense_Mutation_p.R17M	NM_003099	NP_003090	Q13596	SNX1_HUMAN	Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA.	86					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	Golgi apparatus|early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						AAGAGCCACAGGATCTCTTTG	0.388000														44			9		7.48243e-07	8.00842e-07	1	1	0
FNBP4	23360	broad.mit.edu	37	11	47772826	47772826	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47772826G>A	uc009ylv.3	-	4	807	c.654C>T	c.(652-654)ggC>ggT	p.G218G	FNBP4_uc001ngj.3_Silent_p.G125G|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	218	WW 1.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CCTGCCAATCGCCCATCTCAA	0.393000														115			29		0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88779151	88779151	+	Missense_Mutation	SNP	G	A	A	rs148549191		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88779151G>A	uc010chz.3	+	6	836	c.788G>A	c.(787-789)gGt>gAt	p.G263D	CTU2_uc002flm.3_Missense_Mutation_p.G192D|CTU2_uc002fln.3_Missense_Mutation_p.G192D|CTU2_uc010cia.3_Missense_Mutation_p.G105D	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	192					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding	p.M263I(1)		NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGGGCCGGGGGTGGTCCTGGC	0.692000														67			11		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117845074	117845074	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117845074G>T	uc004bjj.4	-	4	2556	c.2144C>A	c.(2143-2145)cCt>cAt	p.P715H	TNC_uc010mvf.3_Missense_Mutation_p.P715H|TNC_uc022bmj.1_Missense_Mutation_p.P715H	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	715	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAGGCCTTCAGGTGCAGGTAA	0.468000														92			7		1.06961e-07	1.15953e-07	1	1	0
CACNA1S	779	broad.mit.edu	37	1	201010662	201010662	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201010662G>A	uc001gvv.3	-	40	5331	c.5104C>T	c.(5104-5106)Cga>Tga	p.R1702*		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1702					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCAAGGGCTCGTCCTCTGGTA	0.557000														45			11		0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141420796	141420796	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141420796C>T	uc003vwn.2	+	4	1226	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	274	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCATGTGGTACGTTACTATTC	0.408000														160			27		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49000506	49000506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49000506G>A	uc003gyv.3	+	5	925	c.743G>A	c.(742-744)gGa>gAa	p.G248E	CWH43_uc011bzl.2_Missense_Mutation_p.G221E	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	248					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTGGCAAGTGGATTGATGCTT	0.413000														149			24		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71350291	71350291	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71350291C>A	uc010nlh.2	-	0	1100	c.1100G>T	c.(1099-1101)aGg>aTg	p.R367M	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.R367M	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	367										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CTGAAAAGCCCTCATGCGCTT	0.488000														32			17		1.15088e-07	1.24477e-07	1	1	0
TRPC6	7225	broad.mit.edu	37	11	101374763	101374763	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101374763C>T	uc001pgk.4	-	1	1362	c.937G>A	c.(937-939)Gag>Aag	p.E313K	TRPC6_uc009ywy.3_Missense_Mutation_p.E313K|TRPC6_uc009ywz.1_Missense_Mutation_p.E313K	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	313					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ACCTTGAACTCTTTCTCAATA	0.473000														207			41		0	0	1	0	0
AP1S1	1174	broad.mit.edu	37	7	100802426	100802426	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100802426C>A	uc003uxv.4	+	3	488	c.378C>A	c.(376-378)acC>acA	p.T126T	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	126					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCAGGACACCTCCAAGAAGA	0.582000														52			12		2.80697e-09	3.10977e-09	1	1	0
SMYD2	56950	broad.mit.edu	37	1	214501057	214501057	+	Missense_Mutation	SNP	C	T	T	rs140909791		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214501057C>T	uc021pix.1	+	6	728	c.695C>T	c.(694-696)cCg>cTg	p.P232L	SMYD2_uc021piw.1_Missense_Mutation_p.P140L|SMYD2_uc009xdl.1_Non-coding_Transcript	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	232	SET.				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	RNA polymerase II core binding|histone methyltransferase activity (H3-K36 specific)|p53 binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		GAAATCAAGCCGGGAGAGGAG	0.507000											OREG0004276	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		77			15		0	0	1	0	0
HIC2	23119	broad.mit.edu	37	22	21800868	21800868	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21800868G>A	uc002zur.4	+	2	1914	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	HIC2_uc002zus.4_Missense_Mutation_p.A562T	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	Homo sapiens hypermethylated in cancer 2 (HIC2), mRNA.	562					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GAAGCCCTTCGCCTGCGATGA	0.632000														157			19		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81650547	81650547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81650547G>A	uc021ssk.1	-	6	686	c.686C>T	c.(685-687)gCg>gTg	p.A229V	TMC3_uc021ssj.1_Missense_Mutation_p.A229V|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.A229V	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	229						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TAGGAAATACGCCAAGGGCAG	0.458000														114			30		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408712	29408712	+	Missense_Mutation	SNP	C	T	T	rs142718527	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408712C>T	uc011dlp.2	+	0	997	c.920C>T	c.(919-921)aCg>aTg	p.T307M	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T307M(2)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ATCCAGAAAACGGTGCCTATG	0.502000														183			32		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47768165	47768165	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47768165T>G	uc002xud.3	-	4	875	c.464A>C	c.(463-465)aAa>aCa	p.K155T	STAU1_uc002xua.3_Missense_Mutation_p.K74T|STAU1_uc002xub.3_Missense_Mutation_p.K74T|STAU1_uc002xuc.3_Missense_Mutation_p.K74T|STAU1_uc002xue.3_Missense_Mutation_p.K74T|STAU1_uc002xuf.3_Missense_Mutation_p.K74T|STAU1_uc002xug.3_Missense_Mutation_p.K155T	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	155	DRBM 1.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			CCTCAACGCTTTGGCAGCAGC	0.537000														121			29		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140400201	140400201	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140400201G>T	uc010ncj.1	-	13	1675	c.1338C>A	c.(1336-1338)agC>agA	p.S446R	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.S421R	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	421				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509).	lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACCATCACGCTTTTCCTGG	0.562000														240			44		6.68952e-21	8.18755e-21	1	1	0
FREM2	341640	broad.mit.edu	37	13	39262299	39262299	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262299G>A	uc001uwv.3	+	0	1127	c.818G>A	c.(817-819)cGc>cAc	p.R273H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	273					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.R273H(2)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCGCCAGTCGCTCACCAAAC	0.622000														218			21		0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184859344	184859344	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:184859344C>A	uc001gra.3	-	3	525	c.331G>T	c.(331-333)Gga>Tga	p.G111*	FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	111					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAGCAGCTCCTCTCTGATAG	0.433000														77			26		3.01185e-09	3.33505e-09	1	1	0
BC043541	0	broad.mit.edu	37	1	43352974	43352974	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43352974C>T	uc001cij.1	+	3		c.876C>T								Homo sapiens cDNA clone IMAGE:5170739.																		CCCCGAAAAGCGTGTCCAGCA	0.582000														65			10		0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81329141	81329141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81329141C>T	uc001xux.2	-	7	893	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CEP128_uc001xuz.2_Missense_Mutation_p.R241H|CEP128_uc001xuy.1_Missense_Mutation_p.R99H	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	241						centriole|spindle pole		p.R241C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TTGATCCTGGCGTCTTTCCAC	0.463000														179			34		0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47504353	47504353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:47504353C>T	uc001wwj.4	-	7	1838	c.1680G>A	c.(1678-1680)atG>atA	p.M560I	MDGA2_uc001wwi.4_Missense_Mutation_p.M262I|MDGA2_uc010ani.3_Missense_Mutation_p.M51I	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	491	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.D560Y(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TCTCCATTTGCATTGATCCAT	0.408000														264			12		0	0	1	0	0
KIAA0355	9710	broad.mit.edu	37	19	34791678	34791678	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34791678C>A	uc002nvd.4	+	1	1159	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KIAA0355_uc010edk.1_Silent_p.L90L	NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	100										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCACAGATCTCTTCAGCACTG	0.547000														123			40		2.19358e-23	2.71615e-23	1	1	0
CD5	921	broad.mit.edu	37	11	60892563	60892563	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60892563T>C	uc009ynk.3	+	8	1442	c.1339T>C	c.(1339-1341)Tcc>Ccc	p.S447P		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	447					cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCCCACAGCCTCCCACGTGGA	0.592000														99			22		0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50144087	50144087	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50144087G>A	uc010njr.2	-	7	1403	c.1359C>T	c.(1357-1359)agC>agT	p.S453S		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	453					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGAGCGATGGCTTCTGAAGC	0.473000														18			4		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989208	120989208	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989208A>G	uc010rzo.2	+	5	984	c.984A>G	c.(982-984)ccA>ccG	p.P328P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	328	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTGGGGAGCCACACTACCACA	0.557000														181			34		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813290	24813290	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24813290C>T	uc001iru.4	+	12	2898	c.2495C>T	c.(2494-2496)gCc>gTc	p.A832V	KIAA1217_uc001irs.3_Missense_Mutation_p.A752V|KIAA1217_uc001irt.4_Missense_Mutation_p.A797V|KIAA1217_uc010qcy.2_Missense_Mutation_p.A797V|KIAA1217_uc010qcz.2_Missense_Mutation_p.A797V|KIAA1217_uc001irv.1_Missense_Mutation_p.A647V|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.A515V|KIAA1217_uc001irz.3_Missense_Mutation_p.A515V|KIAA1217_uc001irx.3_Missense_Mutation_p.A515V|KIAA1217_uc001iry.3_Missense_Mutation_p.A515V	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	832					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACGGACGCAGCCCAAGCCGCA	0.567000														163			11		0	0	1	0	0
SPDYE6	729597	broad.mit.edu	37	7	101988948	101988948	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101988948G>T	uc011kkp.2	-	5	1346	c.925C>A	c.(925-927)Ctc>Atc	p.L309I	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	309	Arg-rich.																CGCTTACGGAGCAAGGGTATG	0.567000														699			34		4.0181e-32	5.07032e-32	1	1	0
NUMA1	4926	broad.mit.edu	37	11	71726974	71726974	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71726974C>T	uc001orl.1	-	14	1747	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	NUMA1_uc009ysw.1_Silent_p.K88K|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.K525K|NUMA1_uc001orn.2_Silent_p.K88K|NUMA1_uc009ysx.1_Silent_p.K525K|NUMA1_uc001oro.1_Silent_p.K525K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	525					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGGCCTGCTGCTTCAGGCCAG	0.607000			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		330			93		0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557079	40557079	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40557079G>A	uc002hzo.3	-	1	1022	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	PTRF_uc010wgi.2_Missense_Mutation_p.R249W	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	267					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		AGGGTGTGCCGCGTCTTCTCC	0.607000														212			45		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81391435	81391435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81391435C>T	uc002fgo.3	+	4	1020	c.872C>T	c.(871-873)gCg>gTg	p.A291V		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	291					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCCACAGCAGCGATGCGATGC	0.433000														258			49		0	0	1	0	0
USP16	10600	broad.mit.edu	37	21	30419482	30419482	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419482C>A	uc002ymy.3	+	13	2053	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	USP16_uc002ymx.3_Missense_Mutation_p.F616L|USP16_uc002ymw.3_Missense_Mutation_p.F617L|USP16_uc011acm.2_Missense_Mutation_p.F602L|USP16_uc011acn.2_Missense_Mutation_p.F283L|USP16_uc011aco.2_Missense_Mutation_p.F307L	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	617					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AAACTGCTTTCTGTACTCTTG	0.363000														141			15		3.52763e-06	3.73571e-06	1	1	0
MAB21L1	4081	broad.mit.edu	37	13	36050059	36050059	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050059C>T	uc001uvc.3	-	1	799	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	73					anatomical structure morphogenesis	nucleus		p.E73K(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCAAATTCGGTGGGGGAG	0.577000														183			50		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229067	21229067	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21229067C>T	uc002red.3	-	25	10801	c.10673G>A	c.(10672-10674)cGc>cAc	p.R3558H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3558			R -> C (in FDB; dbSNP:rs12713559).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3558H(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAATATATGCGTTGGAGTGT	0.463000														116			45		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133253184	133253184	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133253184G>C	uc001uks.1	-	8	901	c.857C>G	c.(856-858)cCt>cGt	p.P286R	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.P259R	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	286					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding	p.P286H(2)		NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CTCAGCATCAGGAAACTTGAG	0.493000								DNA polymerases (catalytic subunits)						78			7		0	0	1	0	0
BHLHE22	27319	broad.mit.edu	37	8	65494072	65494072	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:65494072C>T	uc003xvi.3	+	0	1278	c.725C>T	c.(724-726)gCg>gTg	p.A242V	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						GAGCAAAAGGCGCTGCGGCTT	0.672000														47			4		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242497	87242497	+	Missense_Mutation	SNP	C	T	T	rs146811954	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87242497C>T	uc003ydq.1	-	0	108	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	SLC7A13_uc003ydr.1_Missense_Mutation_p.G4R	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	4						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTTTCTCCCCTCTATCCATT	0.358000														101			11		0	0	1	0	0
LMX1A	4009	broad.mit.edu	37	1	165182966	165182966	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165182966C>T	uc001gcz.2	-	4	775	c.581G>A	c.(580-582)cGc>cAc	p.R194H	LMX1A_uc021pdz.1_Missense_Mutation_p.R194H|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194S(1)|p.R194C(1)		NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					ACGTTTGGGGCGCTTATGGTC	0.502000														298			84		0	0	1	0	0
FAU	2197	broad.mit.edu	37	11	64889267	64889267	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64889267C>T	uc001ocx.3	-	1	138	c.19G>A	c.(19-21)Gcc>Acc	p.A7T	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	7										NS(3)|kidney(1)|large_intestine(2)	6						AGCTCCTGGGCGCGGACAAAG	0.527000														85			13		0	0	1	0	0
SEPT4	5414	broad.mit.edu	37	17	56598178	56598178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56598178C>T	uc010wnx.2	-	11	1493	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	MTMR4_uc002iwj.2_5'Flank|SEPT4_uc002iwk.2_Missense_Mutation_p.D288N|SEPT4_uc010wnw.2_Missense_Mutation_p.D288N|SEPT4_uc002iwl.2_Missense_Mutation_p.D288N|SEPT4_uc002iwm.2_Missense_Mutation_p.D435N|SEPT4_uc002iwo.2_Missense_Mutation_p.D416N|SEPT4_uc002iwp.2_3'UTR|SEPT4_uc010wny.2_Missense_Mutation_p.D427N|SEPT4_uc010dcy.2_3'UTR	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	435					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGGGGAAGTCGGTACCACTT	0.537000											OREG0024614	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		255			11		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26305807	26305807	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26305807G>A	uc001isn.2	+	6	927	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	189	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448000														123			23		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46730615	46730615	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46730615G>A	uc001vaz.4	-	4	575	c.449C>T	c.(448-450)aCg>aTg	p.T150M	LCP1_uc001vba.4_Missense_Mutation_p.T150M	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	150	Actin-binding 1.|CH 1.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GAGATCATTCGTGTTTGGGTT	0.393000			T	BCL6	NHL									210			24		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18552635	18552635	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18552635C>T	uc001rdt.3	+	14	2162	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.F723F|PIK3C2G_uc010sic.2_Silent_p.F501F	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	682					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R681S(1)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TTTATCGCTTCTACTGCAATA	0.383000														66			18		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62045589	62045589	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62045589C>A	uc002jds.1	-	5	907	c.830G>T	c.(829-831)aGg>aTg	p.R277M		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	277					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACACTTCTGCCTCAGGTTTCC	0.547000														174			45		5.20837e-25	6.48422e-25	1	1	0
TBX4	9496	broad.mit.edu	37	17	59560702	59560702	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59560702G>A	uc010ddo.3	+	8	1629	c.1466G>A	c.(1465-1467)aGc>aAc	p.S489N	TBX4_uc002izi.3_Missense_Mutation_p.S488N|TBX4_uc010woy.2_Missense_Mutation_p.S489N	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	488					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CGGGGGCCCAGCGCCTCATTC	0.597000														156			30		0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811251	123811251	+	Missense_Mutation	SNP	G	T	T	rs143337717		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123811251G>T	uc001pzk.1	+	0	928	c.928G>T	c.(928-930)Ggt>Tgt	p.G310C		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACCCTATTGGTCCCCTGGA	0.502000														103			23		5.35356e-11	6.06456e-11	1	1	0
ZNF295	49854	broad.mit.edu	37	21	43411416	43411416	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411416A>C	uc021wjo.1	-	0	2789	c.2789T>G	c.(2788-2790)cTt>cGt	p.L930R	ZNF295_uc002yzz.4_Missense_Mutation_p.L729R|ZNF295_uc002zab.4_Missense_Mutation_p.L930R|ZNF295_uc002yzy.4_Missense_Mutation_p.L930R|ZNF295_uc002zaa.4_Missense_Mutation_p.L930R	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	930					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						AGAGCACAGAAGCTCCTGGTG	0.512000														155			17		0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10568293	10568293	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10568293T>G	uc001qyi.1	-	5	733	c.688A>C	c.(688-690)Agc>Cgc	p.S230R	KLRC2_uc001qyf.3_Intron|KLRC2_uc021qvc.1_Intron|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.S230R	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	0					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ATTCTAAAGCTTATGCTCACA	0.343000														47			8		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131254790	131254790	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131254790G>A	uc004bvc.3	+	14	1900	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	ODF2_uc011maz.2_Missense_Mutation_p.G541E|ODF2_uc011mbc.2_Missense_Mutation_p.G460E|ODF2_uc022boj.1_Missense_Mutation_p.G566E|ODF2_uc004bva.3_Missense_Mutation_p.G585E|ODF2_uc004bvb.3_Missense_Mutation_p.G517E|ODF2_uc011mbd.2_Missense_Mutation_p.G541E|ODF2_uc011mbe.2_Missense_Mutation_p.G536E|ODF2_uc011mbf.2_Missense_Mutation_p.G522E|ODF2_uc004bvd.4_Missense_Mutation_p.G541E|ODF2_uc004bve.3_Missense_Mutation_p.G522E	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	541					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.A605V(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AACTATGAGGGGATGATTGAC	0.587000														83			14		0	0	1	0	0
OLFM1	10439	broad.mit.edu	37	9	137990133	137990133	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137990133C>T	uc010nar.3	+	4	476	c.457_splice	c.e4-1	p.A153_splice	OLFM1_uc004cfl.4_Splice_Site_p.A135_splice	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	153					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		ACCTTGCAGGCGATAAAAGCG	0.468000														78			8		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575601	179575601	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179575601G>T	uc021vsy.1	-	94	24716	c.24491C>A	c.(24490-24492)gCt>gAt	p.A8164D	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A4825D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9091	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A8164V(1)|p.A8163V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCCACCACAGCATCCACAGG	0.517000														153			18		3.41278e-10	3.83229e-10	1	1	0
GPATCH1	55094	broad.mit.edu	37	19	33588747	33588747	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33588747C>T	uc002nug.1	+	7	1253	c.939C>T	c.(937-939)gaC>gaT	p.D313D		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	313						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TTCTGAAGGACGAGGAGCCTG	0.463000														299			60		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20215098	20215098	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20215098G>A	uc002nor.2	+	1	193	c.54G>A	c.(52-54)tgG>tgA	p.W18*	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	18	KRAB.					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TGGAGGAGTGGCATTGCCTGG	0.428000														123			29		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	372691	372691	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:372691C>T	uc002lol.3	-	4	618	c.575G>A	c.(574-576)cGc>cAc	p.R192H	THEG_uc002lom.3_Missense_Mutation_p.R168H	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	192					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCACGCGGCGGGACACCGC	0.552000														94			12		0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19675846	19675846	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19675846T>C	uc002nmy.3	-	5	1108	c.821A>G	c.(820-822)aAg>aGg	p.K274R	PBX4_uc010xra.2_Missense_Mutation_p.K109R|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	274							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TTCTTGAAACTTCCCCATGTT	0.522000														490			117		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74649280	74649280	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74649280C>T	uc002lmi.3	+	25	4955	c.4757C>T	c.(4756-4758)aCa>aTa	p.T1586I	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1586					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GACACTGTCACACTCAACATC	0.512000														64			14		0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914325	117914325	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117914325G>A	uc001two.2	-	16	2494	c.2439C>T	c.(2437-2439)ccC>ccT	p.P813P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	842	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCTGTGTCGGGGGACAGCT	0.602000														16			6		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350182	30350182	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350182G>A	uc002kxm.1	-	1	761	c.373C>T	c.(373-375)Ctg>Ttg	p.L125L		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	125	BTB.					cytosol|endoplasmic reticulum membrane		p.L125L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TGCAGCACCAGGTTGTTGATG	0.682000														296			59		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45856021	45856021	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45856021G>A	uc010zxy.1	-	17	3044	c.2962C>T	c.(2962-2964)Cgc>Tgc	p.R988C	ZMYND8_uc010ghq.1_Missense_Mutation_p.R592C|ZMYND8_uc010ghr.1_Missense_Mutation_p.R863C|ZMYND8_uc002xst.1_Missense_Mutation_p.R843C|ZMYND8_uc002xsu.1_Missense_Mutation_p.R834C|ZMYND8_uc002xsv.1_Missense_Mutation_p.R889C|ZMYND8_uc002xsw.1_Missense_Mutation_p.R667C|ZMYND8_uc002xsx.1_Missense_Mutation_p.R667C|ZMYND8_uc002xsy.1_Missense_Mutation_p.R890C|ZMYND8_uc002xsz.1_Missense_Mutation_p.R852C|ZMYND8_uc002xta.1_Missense_Mutation_p.R961C|ZMYND8_uc002xtb.1_Missense_Mutation_p.R935C|ZMYND8_uc002xss.2_Missense_Mutation_p.R961C|ZMYND8_uc010zxz.1_Missense_Mutation_p.R829C|ZMYND8_uc002xtc.1_Missense_Mutation_p.R935C|ZMYND8_uc002xtd.1_Missense_Mutation_p.R910C|ZMYND8_uc002xte.1_Missense_Mutation_p.R915C|ZMYND8_uc010zya.1_Missense_Mutation_p.R961C|ZMYND8_uc002xtf.1_Missense_Mutation_p.R981C|ZMYND8_uc002xsr.1_Missense_Mutation_p.R60C	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	961							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTCAGCCTGCGAATCTGGAAG	0.537000														112			20		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141200074	141200074	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141200074G>A	uc002tvj.1	-	66	11386	c.10414_splice	c.e66+1	p.D3472_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3472	LDL-receptor class A 24.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GACACTCACCGCAGTTGGCCT	0.448000										TSP Lung(27;0.18)				103			36		0	0	1	0	0
NSUN5P2	260294	broad.mit.edu	37	7	72419542	72419542	+	Missense_Mutation	SNP	G	A	A	rs143136786		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72419542G>A	uc003two.3	-	4	673	c.482C>T	c.(481-483)gCg>gTg	p.A161V	POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.3_Intron|NSUN5P2_uc003twn.3_Missense_Mutation_p.A161V|NSUN5P2_uc003twm.3_Intron|NSUN5P2_uc003twp.3_Missense_Mutation_p.A161V|NSUN5P2_uc003twq.3_Missense_Mutation_p.R164C|NSUN5P2_uc010lan.2_Missense_Mutation_p.A33V					Homo sapiens NOP2/Sun domain family, member 5 pseudogene 2 (NSUN5P2), non-coding RNA.											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|stomach(1)	15						GAAAGTGAGCGCGTGGCACAG	0.642000														99			16		0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75442258	75442258	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75442258A>T	uc010rru.2	+	5	932	c.932A>T	c.(931-933)gAg>gTg	p.E311V	MOGAT2_uc010rrv.2_Missense_Mutation_p.E229V	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	311					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TATATCAAAGAGCTGTGCAAC	0.552000														124			32		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161678	43161678	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161678G>A	uc002yzn.1	-	7	1723	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	559						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R559*(2)|p.R607*(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCCACGCCTCGGCGCAGCAGG	0.662000														123			46		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52167809	52167809	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52167809C>T	uc001wzd.3	+	3	511	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	FRMD6_uc001wzb.3_Missense_Mutation_p.L76F|FRMD6_uc001wzc.3_Missense_Mutation_p.L76F|FRMD6_uc001wze.3_Missense_Mutation_p.L7F	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	76	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GTCACAAAAGCTTTACAAATA	0.308000														13			8		0	0	1	0	0
H3F3B	3021	broad.mit.edu	37	1	226253434	226253434	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226253434A>G	uc001hpw.3	+	2	334	c.206A>G	c.(205-207)cAg>cGg	p.Q69R	H3F3B_uc010pvl.2_Missense_Mutation_p.Q69R|H3F3B_uc021pjv.1_Missense_Mutation_p.Q69R	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	69					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTTCCCTTCCAGCGTCTGGTG	0.463000														31			10		0	0	1	0	0
NACC1	112939	broad.mit.edu	37	19	13246954	13246954	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13246954C>T	uc002mwm.3	+	1	1101	c.933C>T	c.(931-933)aaC>aaT	p.N311N		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	311					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GCATGATGAACGTCGGCCAGA	0.617000														77			19		0	0	1	0	0
NTM	50863	broad.mit.edu	37	11	132177654	132177654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:132177654G>A	uc010sci.2	+	4	929	c.598G>A	c.(598-600)Gag>Aag	p.E200K	NTM_uc001qgm.3_Missense_Mutation_p.E200K|NTM_uc010sch.2_Missense_Mutation_p.E191K|NTM_uc010scj.2_Missense_Mutation_p.E159K|NTM_uc001qgo.3_Missense_Mutation_p.E200K|NTM_uc001qgq.3_Missense_Mutation_p.E200K|NTM_uc001qgp.3_Missense_Mutation_p.E200K	NM_001144058	NP_001137530	Q9P121	NTRI_HUMAN	Homo sapiens neurotrimin (NTM), transcript variant 3, mRNA.	200	Ig-like C2-type 2.				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		p.Y199Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						AGGGGACTACGAGTGCAGTGC	0.567000														90			24		0	0	1	0	0
MFSD12	126321	broad.mit.edu	37	19	3547970	3547970	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3547970C>T	uc002lxw.3	-	3	883	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MFSD12_uc002lxx.3_Missense_Mutation_p.G238D|MFSD12_uc002lxy.3_Missense_Mutation_p.G229D|MFSD12_uc002lxz.3_Missense_Mutation_p.G238D	NM_021731	NP_068377	Q6NUT3	CS028_HUMAN	Homo sapiens major facilitator superfamily domain containing 12 (MFSD12), transcript variant 1, mRNA.	238					transmembrane transport	integral to membrane				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						CTCCCGGGTGCCCAGGTGGAA	0.701000														79			22		0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58477896	58477896	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58477896A>G	uc002qqv.3	-	4	473	c.371_splice	c.e4+1	p.Y124_splice		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	124						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		GCAGATACTTACTATATCATA	0.338000														41			10		0	0	1	0	0
DMAP1	55929	broad.mit.edu	37	1	44684367	44684367	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44684367T>C	uc001clq.1	+	5	740	c.660T>C	c.(658-660)gcT>gcC	p.A220A	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Silent_p.A220A|DMAP1_uc001cls.1_Silent_p.A220A|DMAP1_uc010oku.1_Silent_p.A210A	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	220					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TATTTGATGCTGGGCACGAAC	0.567000											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		129			29		0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48252915	48252915	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48252915G>A	uc002xuu.4	-	8	1295	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	367					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			ACAAGGCGTCGTATGTGATGT	0.493000														107			23		0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156221200	156221200	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156221200T>C	uc001foc.4	-	19	2971	c.2822A>G	c.(2821-2823)gAt>gGt	p.D941G		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	941	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					TTACCAGGCATCTGCATCCTG	0.547000														316			63		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26941524	26941524	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26941524A>C	uc001wqa.3	-	5	939	c.153_splice	c.e5+1	p.Q51_splice	NOVA1_uc001wpy.3_Splice_Site_p.Q173_splice|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Splice_Site_p.Q173_splice	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	176	KH 1.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATGATACTGTACCTGATTAGC	0.453000														32			6		0	0	1	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868833	22868833	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22868833T>G	uc002zwe.3	-	1	1375	c.1122A>C	c.(1120-1122)gaA>gaC	p.E374D	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E374D	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CCTGATCTGTTTCAAATGACA	0.488000														158			26		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741028	126741028	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741028G>A	uc003ejg.3	+	20	4139	c.4139G>A	c.(4138-4140)aGc>aAc	p.S1380N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1380					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCACAGCGCAGCTTCTCCATG	0.617000														79			20		0	0	1	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253481	32253481	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32253481G>A	uc002yov.3	-	0	394	c.363C>T	c.(361-363)tgC>tgT	p.C121C		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	121	4 X 10 AA approximate repeats.					keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CCACTGGTTGGCAGACACTGG	0.577000														125			35		0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249212090	249212090	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249212090G>A	uc001ifh.3	+	2	1454	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	PGBD2_uc001ifg.3_Missense_Mutation_p.R185H|PGBD2_uc009xhd.3_Missense_Mutation_p.R433H|PGBD2_uc021pmh.1_Missense_Mutation_p.R185H	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	436										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CTGACCAGTCGTCACTCTGGA	0.552000														98			12		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111422941	111422941	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111422941A>G	uc003vfy.3	-	35	3941	c.3672T>C	c.(3670-3672)atT>atC	p.I1224I	DOCK4_uc011kml.2_Silent_p.I60I|DOCK4_uc011kmm.2_Silent_p.I86I|DOCK4_uc003vfw.3_Silent_p.I629I|DOCK4_uc003vfx.3_Silent_p.I1179I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1179	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding	p.Y1223C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTGTGCAGCCAATCTTTTTGC	0.383000														130			18		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72998525	72998525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72998525C>T	uc002lly.3	+	1	1591	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L	TSHZ1_uc021uln.1_Missense_Mutation_p.P343L	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	388						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCAGCGAACCCGTACGTCACG	0.622000														148			23		0	0	1	0	0
IFRD1	3475	broad.mit.edu	37	7	112112901	112112901	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112112901T>G	uc003vgh.3	+	11	1721	c.1251T>G	c.(1249-1251)atT>atG	p.I417M	IFRD1_uc011kmn.2_Missense_Mutation_p.I367M|IFRD1_uc003vgj.3_Missense_Mutation_p.I417M|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.I367M|IFRD1_uc003vgk.3_Missense_Mutation_p.I134M	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	417					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						CGATGAAGATTTCTCGTTTCG	0.373000														88			11		0	0	1	0	0
EIF2AK3	9451	broad.mit.edu	37	2	88874864	88874864	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88874864C>A	uc002stc.4	-	12	2439	c.2137G>T	c.(2137-2139)Gct>Tct	p.A713S		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	713	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						GGTGAAGGAGCTATGATTTCA	0.448000														244			78		1.64915e-30	2.07716e-30	1	1	0
SMTN	6525	broad.mit.edu	37	22	31483985	31483985	+	Missense_Mutation	SNP	G	A	A	rs145193216	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31483985G>A	uc003ajl.2	+	2	327	c.86G>A	c.(85-87)cGc>cAc	p.R29H	SMTN_uc003ajk.2_Missense_Mutation_p.R29H|SMTN_uc003ajm.2_Missense_Mutation_p.R29H|SMTN_uc011ale.2_Missense_Mutation_p.R83H|SMTN_uc011alf.2_Missense_Mutation_p.R85H|SMTN_uc003ajn.2_Missense_Mutation_p.R21H|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	29					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCGGCGGCGCATCCGCTCA	0.677000														58			29		0	0	1	0	0
ZNF124	7678	broad.mit.edu	37	1	247320502	247320502	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247320502T>G	uc001ick.3	-	3	561	c.422A>C	c.(421-423)cAg>cCg	p.Q141P	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.Q79P	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTGATTTCTCTGATGTATCTG	0.378000														56			19		0	0	1	0	0
GREM2	64388	broad.mit.edu	37	1	240656545	240656545	+	Silent	SNP	C	T	T	rs148064794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240656545C>T	uc021plf.1	-	0	231	c.231G>A	c.(229-231)ccG>ccA	p.P77P	GREM2_uc001hys.3_Silent_p.P77P	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	77	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTGCCGCAGCGGCTGCGTCT	0.647000														197			49		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3968078	3968078	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3968078G>A	uc002fxe.3	-	28	4359	c.4295C>T	c.(4294-4296)cCc>cTc	p.P1432L	ZZEF1_uc002fxh.3_5'Flank|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.P45L	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1432							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TATGCCCGTGGGCAGAAATTT	0.393000														172			36		0	0	1	0	0
C8orf58	541565	broad.mit.edu	37	8	22458661	22458661	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22458661G>A	uc003xce.3	+	1	427	c.307G>A	c.(307-309)Gcc>Acc	p.A103T	C8orf58_uc011kzl.2_Missense_Mutation_p.A103T|C8orf58_uc003xcf.3_Missense_Mutation_p.A103T	NM_001013842	NP_001013864	Q8NAV2	CH058_HUMAN	Homo sapiens chromosome 8 open reading frame 58 (C8orf58), transcript variant 1, mRNA.	103										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TGAGCCCCCCGCCCAGGTAGG	0.657000														65			11		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15989754	15989754	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15989754G>T	uc002gpo.3	-	22	3288	c.3019C>A	c.(3019-3021)Ctt>Att	p.L1007I	NCOR1_uc002gpn.3_Missense_Mutation_p.L1023I|NCOR1_uc002gpp.1_Missense_Mutation_p.L914I|NCOR1_uc002gpq.1_Missense_Mutation_p.L99I	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1007	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCAGGCTGAAGGACTTTTAAA	0.428000														71			18		2.48551e-13	2.89355e-13	1	1	0
ASXL1	171023	broad.mit.edu	37	20	31024411	31024411	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31024411G>A	uc021wbw.1	+	12	4328	c.3896G>A	c.(3895-3897)gGc>gAc	p.G1299D	ASXL1_uc002wxs.3_Missense_Mutation_p.G1298D|ASXL1_uc010geb.3_Missense_Mutation_p.G1190D	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	1299					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AATGTTACAGGCCAAGGGAAG	0.557000			"""F, N, Mis"""		"""MDS, CMML"""									146			25		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51399995	51399995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51399995C>T	uc011bds.2	+	48	5206	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1728						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCTCAGTCACCAACGTCTCT	0.557000														59			14		0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113729700	113729700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113729700G>A	uc001tux.3	+	25	2440	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	TPCN1_uc001tuw.3_Missense_Mutation_p.A684T|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	684						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GATCATTGTCGCCTTTATCCT	0.597000														173			7		0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654933	8654933	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8654933G>A	uc003wsj.1	-	1	3630	c.3067C>T	c.(3067-3069)Cga>Tga	p.R1023*		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1023										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACATTTACTCGCTCGCTGCCG	0.572000														76			18		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999326	46999326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999326G>A	uc001jec.3	+	2	581	c.446G>A	c.(445-447)aGc>aAc	p.S149N	GPRIN2_uc021ppt.1_Missense_Mutation_p.S149N	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	149										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CTTGGCAGCAGCCCTGTCCAC	0.642000														79			9		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39770548	39770548	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39770548C>T	uc003axq.4	+	1	389	c.327C>T	c.(325-327)atC>atT	p.I109I	TAB1_uc003axo.4_Silent_p.I109I|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.I110I	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGTCCGACATCGGTGTCTCGG	0.632000														138			25		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175956	140175956	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175956G>A	uc003lhd.2	+	0	1513	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.P469P|PCDHAC2_uc011czy.2_Silent_p.P469P	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	483	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCCGCCGGGCTGCC	0.667000														301			64		0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183800055	183800055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183800055G>A	uc002upc.3	-	24	3146	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	NCKAP1_uc002upb.3_Missense_Mutation_p.S921F	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	915					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGATCGGAAGGATAAAATTAC	0.333000														58			14		0	0	1	0	0
VPS37A	137492	broad.mit.edu	37	8	17125834	17125834	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17125834T>G	uc003wxj.3	+	2	621	c.268T>G	c.(268-270)Tta>Gta	p.L90V	VPS37A_uc003wxk.3_Missense_Mutation_p.L65V	NM_152415	NP_689628	Q8NEZ2	VP37A_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog A (S. cerevisiae) (VPS37A), transcript variant 1, mRNA.	90					cellular membrane organization|endosome transport|protein transport	centrosome|late endosome membrane|nucleus				autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	10				Colorectal(111;0.0553)|COAD - Colon adenocarcinoma(73;0.212)		ACGACATCACTTAATGGATAA	0.343000														97			24		0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53911410	53911410	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53911410A>G	uc003dhd.3	-	4	616	c.515T>C	c.(514-516)tTg>tCg	p.L172S	ACTR8_uc003dhb.3_5'UTR|ACTR8_uc003dhc.3_Missense_Mutation_p.L61S	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	172					DNA recombination|DNA repair|cell division|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTAACATACAAGGCCTAGAA	0.413000														46			11		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40052176	40052176	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40052176G>T	uc002xka.1	-	29	4689	c.4511C>A	c.(4510-4512)gCc>gAc	p.A1504D		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1504					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCGGCACATGGCCACAAAACT	0.418000														368			82		1.42074e-37	1.80315e-37	1	1	0
TMEM150A	129303	broad.mit.edu	37	2	85826704	85826704	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85826704G>T	uc002spy.2	-	6	727	c.518C>A	c.(517-519)gCt>gAt	p.A173D	TMEM150A_uc002spx.2_Missense_Mutation_p.A89D|TMEM150A_uc002spz.2_Missense_Mutation_p.A120D	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	173						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						ATAGGCCACAGCCAGGTCCAG	0.612000														126			43		8.20599e-20	9.98962e-20	1	1	0
C14orf135	64430	broad.mit.edu	37	14	60585139	60585139	+	Silent	SNP	A	G	G	rs139085229	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60585139A>G	uc001xer.4	+	5	1491	c.969A>G	c.(967-969)caA>caG	p.Q323Q	C14orf135_uc001xeq.2_Silent_p.Q323Q|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	557						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		AGAAAAAACAACGTCGAAAAA	0.383000														26			7		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681012	137681012	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681012G>A	uc003lcv.3	+	3	1105	c.635G>A	c.(634-636)aGt>aAt	p.S212N	FAM53C_uc003lcw.3_Missense_Mutation_p.S212N|FAM53C_uc011cyq.2_Intron|FAM53C_uc011cyr.2_Intron	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	212										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCCTCAAAGTGGCTCCTGG	0.627000														519			101		0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116381319	116381319	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116381319A>G	uc003pwi.1	-	0	603	c.156T>C	c.(154-156)gaT>gaC	p.D52D		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	52	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GAGCCTGGTAATCAAACAAAG	0.532000														188			44		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88983460	88983460	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983460G>T	uc001xwv.4	-	2	657	c.326C>A	c.(325-327)tCt>tAt	p.S109Y	PTPN21_uc010twc.2_5'UTR|PTPN21_uc010atf.1_Missense_Mutation_p.S109Y	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	109	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGCAGCTGAGAAACTGAAGG	0.403000														66			18		1.96292e-10	2.20843e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237780719	237780719	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237780719C>T	uc001hyl.1	+	37	5969	c.5849C>T	c.(5848-5850)gCc>gTc	p.A1950V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1950	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.N1950N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCATGCAAGCCTTAAACATG	0.428000														97			14		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31422117	31422117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31422117G>A	uc010cap.1	+	11	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H	ITGAD_uc002ebv.1_Missense_Mutation_p.R425H	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	425					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.R425S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642000														127			28		0	0	1	0	0
DOK3	79930	broad.mit.edu	37	5	176931297	176931297	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176931297C>A	uc003mhk.3	-	5	1183	c.1178G>T	c.(1177-1179)gGc>gTc	p.G393V	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	393	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GTGCTCATTGCCTGGGGGCCC	0.697000														63			6		0.00116845	0.00119477	1	1	0
CCDC60	160777	broad.mit.edu	37	12	119957964	119957964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119957964C>T	uc001txe.3	+	8	1472	c.1007C>T	c.(1006-1008)gCt>gTt	p.A336V	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	336										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTAATTCTGCTTATAAGGAA	0.473000														290			34		0	0	1	0	0
TNFSF8	944	broad.mit.edu	37	9	117666368	117666368	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117666368G>A	uc004bji.2	-	3	840	c.548C>T	c.(547-549)aCg>aTg	p.T183M	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	183					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.T183T(2)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TACGTGTTTCGTTTGCATTCC	0.423000														148			18		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113825591	113825591	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113825591C>A	uc001tve.2	+	10	1517	c.1482C>A	c.(1480-1482)gcC>gcA	p.A494A	PLBD2_uc001tvf.2_Silent_p.A462A	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	494					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TGTGCAAAGCCTGCAACCCCC	0.607000														710			34		4.17593e-13	4.85447e-13	1	1	0
CEP72	55722	broad.mit.edu	37	5	653215	653215	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:653215A>G	uc003jbf.3	+	11	1963	c.1891A>G	c.(1891-1893)Atg>Gtg	p.M631V		NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	631					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CAAGAAGACCATGGCCCTGTT	0.612000														86			15		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137630649	137630649	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630649G>T	uc004cfe.3	+	10	1871	c.1489G>T	c.(1489-1491)Gaa>Taa	p.E497*		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	497	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGACCCTGGAGAAAGGGTAAG	0.572000														142			27		5.61819e-17	6.72451e-17	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38768102	38768102	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38768102C>A	uc003ciq.3	-	15	3082	c.3082G>T	c.(3082-3084)Gga>Tga	p.G1028*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1028					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTTACCTGTCCTTTGGGGATC	0.542000														95			25		1.85244e-09	2.0593e-09	1	1	0
C20orf26	26074	broad.mit.edu	37	20	20340951	20340951	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20340951T>G	uc002wru.3	+	26	3725	c.3611T>G	c.(3610-3612)tTt>tGt	p.F1204C	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1204										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AAAAGAGTTTTTGAGGAATCC	0.488000											OREG0025807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		255			62		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75478280	75478280	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:75478280C>T	uc002jts.4	+	3	902	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SEPT9_uc010wtk.2_Missense_Mutation_p.A240V|SEPT9_uc002jtt.4_Missense_Mutation_p.A95V|SEPT9_uc002jtu.4_Missense_Mutation_p.A241V|SEPT9_uc002jtv.3_Missense_Mutation_p.A252V|SEPT9_uc002jtw.3_Missense_Mutation_p.A95V|SEPT9_uc002jtx.1_Missense_Mutation_p.A95V|SEPT9_uc010wtl.2_Missense_Mutation_p.A35V|SEPT9_uc002jty.4_Missense_Mutation_p.A8V|SEPT9_uc010wtm.2_Missense_Mutation_p.A8V|SEPT9_uc010wtn.2_Missense_Mutation_p.A8V|SEPT9_uc010dhd.3_Missense_Mutation_p.A147V	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	259					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CCCAGAGATGCCGGGCTCAAG	0.652000														42			10		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101194700	101194700	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101194700G>A	uc001dti.3	+	4	1187	c.966G>A	c.(964-966)cgG>cgA	p.R322R	VCAM1_uc010ouj.2_Silent_p.R260R|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	322	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CTGGACCCCGGATTGCTGCTC	0.448000														170			8		0	0	1	0	0
KIAA1609	57707	broad.mit.edu	37	16	84522931	84522931	+	Missense_Mutation	SNP	C	T	T	rs148973129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84522931C>T	uc002fib.3	-	3	589	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	KIAA1609_uc010vod.2_Missense_Mutation_p.R134Q	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	161							protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						CACCTGCACCCGGGGGTTGGG	0.602000														91			36		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63517644	63517644	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63517644G>T	uc001nxq.3	+	3	2899	c.2712G>T	c.(2710-2712)caG>caT	p.Q904H	RTN3_uc001nxp.3_Missense_Mutation_p.Q108H|RTN3_uc009yov.3_Missense_Mutation_p.Q792H|RTN3_uc010rmt.2_Non-coding_Transcript|RTN3_uc010rmu.2_Missense_Mutation_p.Q108H|RTN3_uc001nxm.3_Missense_Mutation_p.Q127H|RTN3_uc001nxn.3_Missense_Mutation_p.Q885H|RTN3_uc001nxo.3_Missense_Mutation_p.Q108H	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	904	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAGCTGTACAGAAGTCAGAAG	0.438000														28			11		0.010729	0.0108564	1	1	0
BAGE1	0	broad.mit.edu	37	GL000237.1	875	875	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000237.1:875G>A	uc011mgu.1	-	1		c.343C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		catcaccgtggctgccacaac	0.577000														52			9		0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	138007892	138007892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138007892C>T	uc003esa.1	+	20	2149	c.1782C>T	c.(1780-1782)ggC>ggT	p.G594G	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.G577G|ARMC8_uc011bmg.1_Silent_p.G541G|ARMC8_uc011bmh.1_Silent_p.G535G|ARMC8_uc003esb.1_Silent_p.G566G|ARMC8_uc003esc.1_Silent_p.G366G|ARMC8_uc003esf.1_Silent_p.G177G	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	608							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						ATTAATAGGGCCATTCACATG	0.338000														31			7		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672815	26672815	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26672815C>T	uc001bmd.4	-	1	484	c.334G>A	c.(334-336)Ggg>Agg	p.G112R		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TTCAGCCTCCCCTCAGGCCTT	0.587000														93			8		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54652176	54652176	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54652176C>T	uc002qdj.2	+	10	1512	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	CNOT3_uc010yel.2_Silent_p.S396S|CNOT3_uc002qdi.3_Silent_p.S309S|CNOT3_uc002qdk.2_Silent_p.S396S|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	396					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCAGCCTAgcggaggcggag	0.706000														44			12		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216066	149216066	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216066G>A	uc003lrc.3	+	7	2139	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R683H|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R644H|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R619H|PPARGC1B_uc003lre.1_Missense_Mutation_p.R662H|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R662H	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	683					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCCAGAAGCGTCCCTTCTCC	0.627000														198			37		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51169770	51169770	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51169770A>G	uc002psx.1	-	21	5466	c.5447T>C	c.(5446-5448)gTg>gCg	p.V1816A	SHANK1_uc002psw.1_Missense_Mutation_p.V1200A	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	1816					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTCTACAGCCACCGGACCCCC	0.726000														30			6		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72496502	72496502	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72496502A>G	uc001jrg.3	+	9	1561	c.1561A>G	c.(1561-1563)Acc>Gcc	p.T521A	ADAMTS14_uc001jrh.3_Missense_Mutation_p.T518A|ADAMTS14_uc001jri.1_Missense_Mutation_p.T41A	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	518	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTCTGCAAGACCAAGAAGGG	0.612000														114			22		0	0	1	0	0
ZC3H7A	29066	broad.mit.edu	37	16	11873039	11873039	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11873039C>T	uc002dbk.3	-	2	487	c.289G>A	c.(289-291)Gcc>Acc	p.A97T	ZC3H7A_uc002dbl.3_Missense_Mutation_p.A97T|ZC3H7A_uc002dbm.2_Missense_Mutation_p.A97T	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	97						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAATAGCAGGCAATACGATTT	0.274000														98			11		0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112771563	112771563	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112771563G>A	uc001kzl.4	+	8	2085	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	SHOC2_uc009xxx.3_Missense_Mutation_p.R579H|SHOC2_uc010qrg.2_Missense_Mutation_p.R218H|SHOC2_uc001kzn.3_Missense_Mutation_p.R533H	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	579					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		GGTCCATATCGTGCCATGGTC	0.398000														101			20		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283914	152283914	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152283914G>A	uc001ezu.1	-	2	3484	c.3448C>T	c.(3448-3450)Cga>Tga	p.R1150*	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1150	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597000									Ichthyosis					788			28		0	0	1	0	0
KDELC2	143888	broad.mit.edu	37	11	108356977	108356977	+	Silent	SNP	C	T	T	rs145604569	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108356977C>T	uc001pkj.2	-	2	657	c.591G>A	c.(589-591)acG>acA	p.T197T	KDELC2_uc001pki.2_Silent_p.T141T	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	197						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TATTGAGAATCGTGTAATGAA	0.398000														141			33		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125735601	125735601	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125735601G>T	uc003eij.3	-	6	1089	c.863C>A	c.(862-864)cCa>cAa	p.P288Q	SLC41A3_uc003eii.3_Missense_Mutation_p.P262Q|SLC41A3_uc003eil.3_Missense_Mutation_p.P288Q|SLC41A3_uc003eik.3_Missense_Mutation_p.P252Q|SLC41A3_uc011bkh.2_Missense_Mutation_p.P171Q|SLC41A3_uc010hsd.1_Missense_Mutation_p.P303Q	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	288						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CAGGATGATTGGGAACCAGCC	0.607000														125			35		3.11337e-16	3.70767e-16	1	1	0
ZNF19	7567	broad.mit.edu	37	16	71510112	71510112	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71510112C>A	uc010cgc.1	-	5	844	c.338G>T	c.(337-339)gGg>gTg	p.G113V	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.G101V|ZNF19_uc002fal.1_Missense_Mutation_p.G101V|ZNF19_uc002fam.1_Missense_Mutation_p.G113V	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	113						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGACATCATCCCATCTCTTTC	0.428000														69			15		2.32078e-09	2.57599e-09	1	1	0
PVRL1	5818	broad.mit.edu	37	11	119535972	119535972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535972G>A	uc001pwv.3	-	5	1211	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	347					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	p.G346W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCGGCGCGCCGCCCATGTTCG	0.672000														98			21		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475444	16475444	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16475444G>T	uc001aya.2	-	2	407	c.252C>A	c.(250-252)aaC>aaA	p.N84K	EPHA2_uc010oca.2_Missense_Mutation_p.N84K	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	84					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGTACACCCAGTTGGTGCGGA	0.542000														162			11		1.58986e-06	1.69271e-06	1	1	0
POM121	9883	broad.mit.edu	37	7	72413259	72413259	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413259G>A	uc003twk.2	+	10	2727	c.2727G>A	c.(2725-2727)acG>acA	p.T909T	POM121_uc003twj.3_Silent_p.T644T|POM121_uc010lam.1_Silent_p.T644T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	909	Pore side (Potential).|Thr-rich.				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)				CCGTGCCAACGGCCACCAGCA	0.627000														147			66		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111999618C>T	uc003dyu.3	-	2	323	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	SLC9C1_uc011bhu.2_5'UTR|SLC9C1_uc010hqc.3_Missense_Mutation_p.R34Q	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	34					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTCCAAGTGCCGGTTCAAAAA	0.323000														53			9		0	0	1	0	0
RNF220	55182	broad.mit.edu	37	1	45079892	45079892	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45079892C>A	uc001clv.1	+	2	1041	c.681C>A	c.(679-681)tgC>tgA	p.C227*	RNF220_uc001clw.1_Nonsense_Mutation_p.C227*|RNF220_uc010okx.1_5'UTR|RNF220_uc010oky.1_5'UTR	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	227					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GCCCCATCTGCCAGGTCCTGC	0.592000														197			24		1.10923e-09	1.2355e-09	1	1	0
TRPV2	51393	broad.mit.edu	37	17	16335315	16335315	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16335315G>A	uc002gpy.3	+	11	2089	c.1690G>A	c.(1690-1692)Gaa>Aaa	p.E564K	TRPV2_uc002gpz.3_Missense_Mutation_p.E134K	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	564					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTGGCGCCCCGAAGCTCCTAC	0.647000														121			29		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10893745	10893745	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10893745G>A	uc002mpt.2	+	5	988	c.798G>A	c.(796-798)cgG>cgA	p.R266R	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.R266R|DNM2_uc010dxl.2_Silent_p.R266R|DNM2_uc002mpu.2_Silent_p.R266R|DNM2_uc002mpv.2_Silent_p.R266R|DNM2_uc002mpw.3_5'UTR	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	266					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGGCCTACCGGCACATGGCCG	0.592000			"""F, N, Splice, Mis, O"""		ETP ALL									139			29		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120355208	120355208	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120355208A>C	uc001pxl.2	+	39	4951	c.4616A>C	c.(4615-4617)aAg>aCg	p.K1539T	ARHGEF12_uc009zat.3_Missense_Mutation_p.K1520T|ARHGEF12_uc009zau.1_Missense_Mutation_p.K1436T	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1539					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCACAGACAAGCACTCAGGT	0.388000			T	MLL	AML									91			11		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947261	150947261	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947261C>T	uc003lue.4	-	0	1245	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	FAT2_uc010jhx.1_Missense_Mutation_p.R411Q	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	411	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAACCCAGTTCGAGCATTAAG	0.537000														132			40		0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43259290	43259290	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43259290G>A	uc002ouo.2	-	3	936	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.L280F|PSG8_uc010ein.3_Missense_Mutation_p.L158F|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	280	Ig-like C2-type 2.					extracellular region		p.L280I(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTGACCGGGAGGCTCTGACCA	0.448000														280			56		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38890961	38890961	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38890961G>T	uc021yzh.1	+	72	10899	c.10790_splice	c.e72+1	p.R3597_splice	DNAH8_uc003ooe.2_Splice_Site_p.R3380_splice|LOC100131047_uc003oof.2_Non-coding_Transcript	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAGATTAATAGGTGGGAATCT	0.428000														73			12		0.000978159	0.0010017	1	1	0
ERC2	26059	broad.mit.edu	37	3	56330455	56330455	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56330455C>A	uc021wzo.1	-	1	806	c.666G>T	c.(664-666)caG>caT	p.Q222H	ERC2_uc003dhr.1_Missense_Mutation_p.Q222H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	222						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGATTGTCAACTGTAGGTGCT	0.517000														93			26		3.01185e-09	3.33505e-09	1	1	0
MCM6	4175	broad.mit.edu	37	2	136614334	136614334	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136614334G>A	uc002tuw.3	-	10	1666	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	530	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AGAAGAGATCGAATCGGGACA	0.413000														85			47		0	0	1	0	0
DKK4	27121	broad.mit.edu	37	8	42233345	42233345	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42233345A>G	uc003xpb.3	-	1	226	c.115T>C	c.(115-117)Tca>Cca	p.S39P		NM_014420	NP_055235	Q9UBT3	DKK4_HUMAN	Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA.	39					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			AGGCACTGTGAGCCCTGTGGA	0.547000														44			8		0	0	1	0	0
LINC00471	151477	broad.mit.edu	37	2	232373827	232373827	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232373827G>T	uc002vrx.1	-	2	592	c.264C>A	c.(262-264)ggC>ggA	p.G88G						Homo sapiens long intergenic non-protein coding RNA 471 (LINC00471), non-coding RNA.																		CTAACTCACAGCCACTCATCG	0.502000														233			52		8.72198e-27	1.09116e-26	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49079532	49079532	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49079532G>T	uc004dnb.3	-	14	2036	c.1974C>A	c.(1972-1974)tcC>tcA	p.S658S	CACNA1F_uc010nip.3_Silent_p.S647S	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	658					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GAAGCAGCAAGGATGCGATGG	0.522000														20			4		0.00909568	0.00920877	1	1	0
OR2H2	7932	broad.mit.edu	37	6	29556596	29556596	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29556596A>G	uc003nmr.1	+	0	914	c.875A>G	c.(874-876)aAc>aGc	p.N292S	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	292					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCCTGAGGAACAAGGAGGTA	0.498000														76			23		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210003473	210003473	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210003473A>C	uc001hhr.2	+	1	225	c.128A>C	c.(127-129)aAg>aCg	p.K43T	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	43					multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						AAGGAAGCAAAGCCACAGATT	0.323000														30			21		0	0	1	0	0
FUBP3	8939	broad.mit.edu	37	9	133501820	133501820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133501820G>A	uc004bzr.1	+	11	1153	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	349					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CTGGAGCGTGGGAGCCCCTGG	0.602000											OREG0019546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			19		0	0	1	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101583122	101583122	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:101583122C>T	uc003knm.3	-	9	1932	c.1645G>A	c.(1645-1647)Gaa>Aaa	p.E549K		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	549	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTTTCCTTTCAATACAGGAA	0.299000														101			21		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16531318	16531318	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16531318G>T	uc001ayc.1	-	11	1980	c.1843C>A	c.(1843-1845)Ctg>Atg	p.L615M	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	615	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTGGACAGCTTCAGCTTG	0.597000														35			7		0.000157383	0.000162836	1	1	0
CLCN7	1186	broad.mit.edu	37	16	1507738	1507738	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1507738G>A	uc002clv.2	-	7	805	c.695C>T	c.(694-696)tCc>tTc	p.S232F	CLCN7_uc002clw.2_Missense_Mutation_p.S208F	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	232						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GATCACACCGGACACTTTGAT	0.607000														160			26		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18030104	18030104	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18030104G>T	uc021trm.1	+	5	4086	c.3867_splice	c.e5-1	p.P1289_splice	MYO15A_uc021trl.1_Splice_Site_p.P1289_splice	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1289	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGTCTCCCCAGGCACCTCTTT	0.552000														279			12		4.3838e-07	4.70703e-07	1	1	0
EYS	346007	broad.mit.edu	37	6	66063417	66063417	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063417A>C	uc011dxu.1	-	8	1931	c.1393T>G	c.(1393-1395)Ttc>Gtc	p.F465V	EYS_uc003peq.3_Missense_Mutation_p.F465V|EYS_uc003per.1_Missense_Mutation_p.F465V|EYS_uc021zbn.1_Missense_Mutation_p.F465V	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	465					response to stimulus|visual perception	extracellular region	calcium ion binding	p.T464N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATACCATGGAAGGTGACTCCA	0.368000														77			13		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111916599	111916599	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111916599C>T	uc001pmo.3	+	9	1962	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	DLAT_uc010rwr.2_Nonsense_Mutation_p.R308*|DLAT_uc021qqn.1_Nonsense_Mutation_p.R379*	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	435	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding	p.Q434*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	TATTGCACAGCGATTAATGCA	0.333000														32			7		0	0	1	0	0
USP7	7874	broad.mit.edu	37	16	8995939	8995939	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8995939G>A	uc002czl.2	-	18	2246	c.2047_splice	c.e18+1	p.H683_splice	USP7_uc010uyk.1_Splice_Site_p.H584_splice|USP7_uc010uyj.1_Splice_Site_p.H584_splice|USP7_uc002czk.2_Splice_Site_p.H667_splice|USP7_uc010uyl.1_Splice_Site	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	683	Interaction with ICP0/VMW110.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GGGCACTTACGATCTTTATCA	0.483000														149			9		0	0	1	0	0
FAR1	84188	broad.mit.edu	37	11	13743352	13743352	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13743352G>T	uc001mld.3	+	9	1358	c.1203G>T	c.(1201-1203)tgG>tgT	p.W401C		NM_032228	NP_115604	Q8WVX9	FACR1_HUMAN	Homo sapiens fatty acyl CoA reductase 1 (FAR1), mRNA.	401					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						CTTGGGTTTGGAATACTGAGA	0.303000														31			7		2.7689e-08	3.02839e-08	1	1	0
TGIF2LX	90316	broad.mit.edu	37	X	89177650	89177650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:89177650C>T	uc022bzr.1	+	0	566	c.566C>T	c.(565-567)cCg>cTg	p.P189L	TGIF2LX_uc004efe.3_Missense_Mutation_p.P189L	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAGCCCAGCCGAAGAAAAAG	0.572000														94			18		0	0	1	0	0
RNASEH2A	10535	broad.mit.edu	37	19	12924273	12924273	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12924273G>T	uc002mvg.1	+	7	953	c.893G>T	c.(892-894)aGc>aTc	p.S298I		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	298					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						TCAGCAACCAGCCTCTAGCAG	0.532000														132			16		6.94344e-10	7.75807e-10	1	1	0
DNMT3B	1789	broad.mit.edu	37	20	31387092	31387092	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31387092C>T	uc002wyc.3	+	15	2038	c.1717C>T	c.(1717-1719)Cgg>Tgg	p.R573W	DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.R553W|DNMT3B_uc002wye.3_Missense_Mutation_p.R553W|DNMT3B_uc010ztz.2_Missense_Mutation_p.R511W|DNMT3B_uc010zua.2_Missense_Mutation_p.R477W|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.R565W|DNMT3B_uc002wyg.3_Missense_Mutation_p.R272W|DNMT3B_uc010geg.3_5'Flank|DNMT3B_uc010geh.3_5'Flank	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	573					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCCCGAAGGCGGCCCATTCG	0.582000														40			6		0	0	1	0	0
TERF2IP	54386	broad.mit.edu	37	16	75690139	75690139	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75690139T>C	uc002fet.2	+	2	976	c.830T>C	c.(829-831)aTa>aCa	p.I277T		NM_018975	NP_061848	Q9NYB0	TE2IP_HUMAN	Homo sapiens telomeric repeat binding factor 2, interacting protein (TERF2IP), mRNA.	277	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						GAAATACATATAACTATGTGT	0.413000														121			31		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906516	164906516	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164906516G>T	uc003fej.4	-	1	2547	c.2103C>A	c.(2101-2103)atC>atA	p.I701I	SLITRK3_uc003fek.3_Silent_p.I701I|SLITRK3_uc021xgy.1_Silent_p.I701I	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	701						integral to membrane		p.G700G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ATTGCATTTGGATGCCAGTAA	0.577000										HNSCC(40;0.11)				102			32		2.47316e-13	2.8801e-13	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27448960	27448960	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27448960G>T	uc002hdt.1	-	3	1261	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	MYO18A_uc010wbc.1_5'Flank|MYO18A_uc002hds.2_5'UTR|MYO18A_uc010csa.1_Missense_Mutation_p.S368Y|MYO18A_uc002hdu.1_Missense_Mutation_p.S368Y|MYO18A_uc010wbd.1_Missense_Mutation_p.S37Y	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	368					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GAGCTCCTCAGATTTGAGTTG	0.592000														168			12		2.27111e-07	2.44751e-07	1	1	0
ZNF473	25888	broad.mit.edu	37	19	50549918	50549918	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549918G>A	uc002prn.3	+	4	2455	c.2218G>A	c.(2218-2220)Ggc>Agc	p.G740S	ZNF473_uc002prm.3_Missense_Mutation_p.G740S|ZNF473_uc010ybo.2_Missense_Mutation_p.G728S	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	740					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.F739F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GAAGGCCTTCGGCCTGAGTGC	0.512000											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			21		0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67680191	67680191	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:67680191T>C	uc009xpn.1	-	17	2708	c.2585A>G	c.(2584-2586)gAg>gGg	p.E862G	CTNNA3_uc001jmw.2_Missense_Mutation_p.E862G	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	862					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CTCTGGCTTCTCTCTTTTAAT	0.468000														161			30		0	0	1	0	0
PTPLA	9200	broad.mit.edu	37	10	17636234	17636234	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636234G>T	uc001ipg.3	-	5	789	c.754C>A	c.(754-756)Ctt>Att	p.L252I		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A (PTPLA), mRNA.	252					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						GTTATAAGAAGAAAATAATAG	0.289000														84			14		6.72482e-11	7.60803e-11	1	1	0
TPP2	7174	broad.mit.edu	37	13	103249462	103249462	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103249462C>A	uc001vpi.4	+	0	177	c.74C>A	c.(73-75)tCc>tAc	p.S25Y		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	25					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGAGCCGCCTCCTTCCTCTGC	0.682000														51			10		7.03913e-09	7.75971e-09	1	1	0
OR2A7	401427	broad.mit.edu	37	7	143956692	143956692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143956692C>T	uc011kuc.2	-	0	30	c.30G>A	c.(28-30)gaG>gaA	p.E10E	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GTAGGAGGAACTCTGTGATGG	0.458000														697			33		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922621	24922621	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922621C>A	uc001ywo.3	+	0	2081	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	536	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTCCAGTCCCTTCCACCGGG	0.522000														311			85		1.48072e-28	1.85941e-28	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31927755	31927755	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31927755T>C	uc002ecs.4	+	3	2394	c.2185T>C	c.(2185-2187)Tca>Cca	p.S729P		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	729					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S729L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						TAACTCTAGGTCATACCTCAT	0.388000														71			7		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625193	140625193	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140625193T>C	uc003lje.3	+	0	47	c.47T>C	c.(46-48)aTt>aCt	p.I16T		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	16					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAAGTCCTGATTCTCCTTCTT	0.532000														97			34		0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148868428	148868428	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148868428A>G	uc003ewu.1	+	5	1346	c.1206A>G	c.(1204-1206)gcA>gcG	p.A402A	HPS3_uc011bnq.1_Silent_p.A237A|HPS3_uc021xfk.1_Silent_p.A295A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	402						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGCGGCGGCAGCTCGTGAGG	0.517000									Hermansky-Pudlak syndrome					127			26		0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964527	52964527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52964527C>T	uc001sap.1	-	4	982	c.934G>A	c.(934-936)Gct>Act	p.A312T		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	312	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I311I(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CGGACCTCAGCGATGATGCTG	0.582000														110			17		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612399	16612399	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16612399G>A	uc002gqk.1	+	4	1104	c.1028G>A	c.(1027-1029)gGt>gAt	p.G343D	CCDC144A_uc002gql.1_Intron|CCDC144A_uc010cpj.1_5'Flank	NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	343																	AACATACCTGGTTGTGAGGAA	0.383000														83			16		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77635368	77635368	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77635368G>T	uc021rks.1	-	75	13239	c.12972C>A	c.(12970-12972)ttC>ttA	p.F4324L	MYCBP2_uc010aev.3_Missense_Mutation_p.F3690L|MYCBP2_uc001vke.3_Missense_Mutation_p.F903L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCATCAACCAGAACAATTTGG	0.368000														66			6		0.0293803	0.0295844	1	1	0
COBL	23242	broad.mit.edu	37	7	51095503	51095503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51095503G>A	uc003tps.3	-	10	3646	c.3461C>T	c.(3460-3462)cCt>cTt	p.P1154L	COBL_uc003tpr.4_Missense_Mutation_p.P1097L|COBL_uc011kcl.2_Missense_Mutation_p.P1097L|COBL_uc003tpp.4_Missense_Mutation_p.P883L|COBL_uc003tpq.4_Missense_Mutation_p.P1038L|COBL_uc003tpo.4_Missense_Mutation_p.P639L	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1097	WH2 2.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTGGACAACAGGTTTGAATTT	0.498000														188			40		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669413	99669413	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669413C>T	uc003uss.3	-	2	1033	c.715G>A	c.(715-717)Gag>Aag	p.E239K	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.E232K|ZNF3_uc010lgj.3_Missense_Mutation_p.E196K|ZNF3_uc003usr.3_Missense_Mutation_p.E232K|ZNF3_uc003ust.4_Missense_Mutation_p.E232K			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	232					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E232K(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TTCCCACACTCATTACATTCA	0.433000														116			24		0	0	1	0	0
GOLT1A	127845	broad.mit.edu	37	1	204170873	204170873	+	Missense_Mutation	SNP	G	A	A	rs149024146	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204170873G>A	uc001has.1	-	2	370	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	GOLT1A_uc001hat.1_Missense_Mutation_p.R62W	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			AGTTTGTGCCGTTGGAAGAAG	0.572000														226			38		0	0	1	0	0
TFE3	7030	broad.mit.edu	37	X	48888050	48888050	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48888050G>T	uc004dmb.3	-	9	1585	c.1347C>A	c.(1345-1347)tcC>tcA	p.S449S	TFE3_uc004dmc.3_Silent_p.S344S	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	449					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCGTGGCCAAGGAAAGCAGCC	0.587000			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""									142			8		3.09899e-07	3.33423e-07	1	1	0
KHNYN	23351	broad.mit.edu	37	14	24900668	24900668	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24900668G>T	uc010tpc.2	+	3	341	c.325_splice	c.e3-1	p.E109_splice	KHNYN_uc001wph.4_Splice_Site_p.E68_splice|KHNYN_uc010alw.3_Splice_Site_p.E68_splice|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	68										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CTCCCAACCAGGAGTACCTGA	0.562000											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		71			19		3.51602e-12	4.04451e-12	1	1	0
KLF17	128209	broad.mit.edu	37	1	44595120	44595120	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595120G>T	uc001clp.3	+	1	235	c.177G>T	c.(175-177)caG>caT	p.Q59H	KLF17_uc009vxf.1_Missense_Mutation_p.Q22H	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	59					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CAAGCATTCAGCACTTTCCTC	0.547000														149			15		2.32078e-09	2.57599e-09	1	1	0
AEN	64782	broad.mit.edu	37	15	89169883	89169883	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89169883G>A	uc002bmt.2	+	1	594	c.443G>A	c.(442-444)aGg>aAg	p.R148K	AEN_uc010bnl.2_Missense_Mutation_p.R148K|AEN_uc010bnm.1_Missense_Mutation_p.R148K	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	148	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						AAGTACATCAGGCCTGAGATG	0.602000														220			48		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154572	19154572	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154572T>G	uc002kth.1	-	3	1167	c.233A>C	c.(232-234)aAa>aCa	p.K78T	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	78					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTTAGTAGCTTTATCATTAGA	0.323000														161			49		0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34727821	34727821	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34727821A>C	uc002yrn.3	+	10	1787	c.1640A>C	c.(1639-1641)aAa>aCa	p.K547T	IFNAR1_uc011adv.2_Missense_Mutation_p.K478T	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	547					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGCGAAAGTAAAACAAGTGAA	0.373000														75			13		0	0	1	0	0
PSMD11	5717	broad.mit.edu	37	17	30796059	30796059	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30796059C>A	uc010cta.1	+	5	531	c.491C>A	c.(490-492)gCt>gAt	p.A164D	PSMD11_uc010wbz.1_Missense_Mutation_p.A164D|PSMD11_uc002hhm.3_Missense_Mutation_p.A164D	NM_002815	NP_002806	O00231	PSD11_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 11 (PSMD11), mRNA.	164					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			GACGACAAAGCTCTTTTGGTG	0.448000														114			26		7.92952e-12	9.07913e-12	1	1	0
BARD1	580	broad.mit.edu	37	2	215646005	215646005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215646005G>A	uc002veu.2	-	3	728	c.593C>T	c.(592-594)gCt>gTt	p.A198V	BARD1_uc021vwe.1_Missense_Mutation_p.A179V|BARD1_uc021vwf.1_Missense_Mutation_p.A101V|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.A54V|BARD1_uc021vwj.1_Missense_Mutation_p.A198V	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	198					DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCTTGCAGAAGCCTTTTTAGC	0.388000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					96			24		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81248637	81248637	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81248637G>A	uc002fgh.1	-	2	626	c.626C>T	c.(625-627)gCc>gTc	p.A209V	PKD1L2_uc002fgj.3_Missense_Mutation_p.A209V	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	209	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTTGACGTTGGCCCAGCTGCA	0.627000											OREG0023964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		26			6		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581465	99581465	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99581465G>T	uc004awp.1	-	5	1121	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF782_uc011lup.1_Missense_Mutation_p.F148L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGATTCTACAGAAACAATTTC	0.358000														94			22		8.10497e-08	8.79904e-08	1	1	0
ARHGEF4	50649	broad.mit.edu	37	2	131797660	131797660	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131797660C>T	uc002tsa.1	+	6	1338	c.819C>T	c.(817-819)ggC>ggT	p.G273G	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.G273G|ARHGEF4_uc010fmx.1_Silent_p.G273G|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	273					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		CGGAGGACGGCGGGGCGGAGG	0.662000														38			17		0	0	1	0	0
CEP104	9731	broad.mit.edu	37	1	3750492	3750492	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3750492G>A	uc001aky.2	-	11	1952	c.1593C>T	c.(1591-1593)ccC>ccT	p.P531P	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Silent_p.P531P	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	531						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGAGCAAAACGGGAATGGTCC	0.423000														97			27		0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93244323	93244323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93244323G>A	uc010qnm.1	+	9	993	c.893G>A	c.(892-894)cGc>cAc	p.R298H	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.R294H|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	294					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTTCTTTACGCCTGTTTCCT	0.368000														76			11		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102252167	102252167	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102252167G>A	uc002bxm.3	-	4	783	c.728C>T	c.(727-729)gCc>gTc	p.A243V	TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	243					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTCCATGGCCTCCCCAAG	0.448000														51			11		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687299	68687299	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68687299G>A	uc001jmz.1	+	1	1175	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.E209K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	209						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAGACTCAAAGAACTTCACCT	0.453000														183			34		0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36255604	36255604	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36255604C>A	uc011cow.2	-	11	1560	c.1067G>T	c.(1066-1068)aGc>aTc	p.S356I	RANBP3L_uc003jkh.3_Missense_Mutation_p.S331I	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	331	RanBD1.				intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ACAGTCAGTGCTTGCTGTGTC	0.363000														137			17		1.00905e-13	1.17906e-13	1	1	0
FKBP4	2288	broad.mit.edu	37	12	2907877	2907877	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2907877G>A	uc001qkz.3	+	3	597	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	133	PPIase FKBP-type 1.				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CACAGGTGGAGTTGTTTGAGT	0.483000														201			37		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499830	75499830	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499830C>T	uc002azp.4	+	1	1761	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	C15orf39_uc002azq.4_Missense_Mutation_p.R481W|C15orf39_uc021sqm.1_Missense_Mutation_p.R240W|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	481										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCTGTGCCCGGGAGTGCCA	0.637000														169			19		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6245399	6245399	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6245399G>A	uc001mck.4	-	2	577	c.218C>T	c.(217-219)aCt>aTt	p.T73I	FAM160A2_uc001mcl.4_Missense_Mutation_p.T73I|FAM160A2_uc001mcm.2_Missense_Mutation_p.T73I	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	73					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CATCTGGTAAGTGTGGTTGCG	0.622000														119			23		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237013811	237013811	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237013811A>G	uc001hyi.4	+	15	2106	c.1683A>G	c.(1681-1683)acA>acG	p.T561T	MTR_uc010pxw.2_Silent_p.T154T|MTR_uc010pxx.2_Silent_p.T561T|MTR_uc010pxy.2_Intron	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	561	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCCATGCAACAAAAGTCATTA	0.348000														75			13		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10406086	10406086	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10406086C>T	uc002mnu.4	+	9	2360	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	ICAM5_uc002mnv.4_Silent_p.F640F	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	765	Ig-like C2-type 9.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGGAAACTTCACGTTGACCT	0.687000														58			5		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7310163	7310163	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7310163G>A	uc001qss.3	+	15	3180	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H	CLSTN3_uc001qsr.3_Missense_Mutation_p.R869H|CLSTN3_uc001qst.3_Missense_Mutation_p.R277H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	869					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGCCTGGTGCGCATCCATTCC	0.662000														48			10		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45490528	45490528	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45490528C>T	uc002pai.3	+	7	939	c.885C>T	c.(883-885)aaC>aaT	p.N295N	CLPTM1_uc010ejv.1_Silent_p.N193N|CLPTM1_uc010xxf.2_Silent_p.N193N|CLPTM1_uc010xxg.2_Silent_p.N281N	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	295					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		ACCCCATCAACGAGAGCCTGG	0.582000														355			77		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5977679	5977679	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5977679C>T	uc003git.2	-	2		c.1470G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TGAAGTTCTTCAAGCTGAAAT	0.428000														73			9		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150873210	150873210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150873210C>T	uc003wjm.1	-	4	1654	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ASB10_uc003wjl.1_Missense_Mutation_p.V427M|ASB10_uc003wjn.1_Missense_Mutation_p.V450M	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	465					intracellular signal transduction			p.V427L(1)|p.V465L(1)		NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAGTAGAGCACGCCCTCAAAA	0.672000														87			25		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42752816	42752816	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42752816C>T	uc002ote.4	-	3	1606	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	ERF_uc002otd.4_Missense_Mutation_p.R214H	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	483					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CCGCTTAAAGCGTAGCTTGAG	0.677000														243			48		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88951484	88951484	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88951484G>A	uc002fmm.2	-	6	1376	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	CBFA2T3_uc002fml.2_Missense_Mutation_p.R277W|CBFA2T3_uc010cif.1_Missense_Mutation_p.R302W|CBFA2T3_uc002fmn.2_Missense_Mutation_p.R338W	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	363	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R363Q(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CGTAGCTCCCGGGGGTCTGGG	0.687000			T	RUNX1	AML									80			46		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98535441	98535441	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535441A>G	uc003upp.3	+	29	4611	c.4402A>G	c.(4402-4404)Atg>Gtg	p.M1468V	TRRAP_uc011kis.2_Missense_Mutation_p.M1468V|TRRAP_uc003upr.3_Missense_Mutation_p.M1160V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1468					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGATCAGATGATGGTAAGCCA	0.393000														59			17		0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84442094	84442094	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84442094C>T	uc010chj.3	+	3	500	c.411C>T	c.(409-411)atC>atT	p.I137I	ATP2C2_uc002fhx.3_Silent_p.I137I|ATP2C2_uc002fhy.3_Silent_p.I154I|ATP2C2_uc002fhz.3_Missense_Mutation_p.S7L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	137					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCGTCAGCATCGCCACGGTGA	0.537000														70			20		0	0	1	0	0
HEG1	57493	broad.mit.edu	37	3	124739746	124739746	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124739746G>A	uc011bke.2	-	3	1210	c.1142C>T	c.(1141-1143)tCg>tTg	p.S381L	HEG1_uc003ehs.4_Missense_Mutation_p.S381L	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	353						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GTTTCTTCTCGATTCCACTGC	0.473000														50			24		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032402	213032402	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032402C>T	uc001hjt.3	+	0	806	c.608C>T	c.(607-609)aCc>aTc	p.T203I	FLVCR1-AS1_uc001hjr.4_5'Flank|FLVCR1-AS1_uc001hjs.4_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	203					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTCTGGGTCACCATGTTGGGC	0.642000														143			45		0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638779	8638779	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638779G>T	uc002gln.3	-	4	870	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	CCDC42_uc002glo.3_Intron	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	215				Missing (in Ref. 2; AAH29224).						kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TTTTGCTGCAGGATCTCATCA	0.637000														166			32		2.70662e-09	3.00119e-09	1	1	0
GBA2	57704	broad.mit.edu	37	9	35749985	35749985	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35749985C>T	uc011lpd.2	-	1	1	c.-498_splice	c.e1-1		GBA2_uc003zxw.3_5'Flank|GBA2_uc011lpb.1_5'Flank|GBA2_uc011lpc.1_5'Flank|RGP1_uc011lpf.2_Intron	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.						O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCACTGTGCTGTCATTGTA	0.537000														18			6		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724293	38724293	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724293C>T	uc001wum.1	-	0	1282	c.935G>A	c.(934-936)aGc>aAc	p.S312N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	312						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CGGCACGGGGCTGGTTGCAGT	0.627000														321			64		0	0	1	0	0
WIZ	58525	broad.mit.edu	37	19	15535824	15535824	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15535824C>A	uc002nbc.3	-	5	2174	c.2151G>T	c.(2149-2151)gaG>gaT	p.E717D	WIZ_uc002nba.4_Missense_Mutation_p.E584D|WIZ_uc002nbb.4_Missense_Mutation_p.E543D	NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	1400						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						GGCCACACAGCTCGCAGCAGG	0.687000														27			6		0.00116845	0.00119477	1	1	0
ANKRD52	283373	broad.mit.edu	37	12	56647941	56647941	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647941G>A	uc001skm.4	-	7	906	c.816C>T	c.(814-816)ggC>ggT	p.G272G	ANKRD52_uc001skn.1_Non-coding_Transcript	NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	272							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGGCGTGAAGCCCTTGTCAT	0.557000														211			52		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9764515	9764515	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9764515G>T	uc002gmd.1	+	8	986	c.986_splice	c.e8+1	p.G329_splice		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	329					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GGAGAACACAGGGTAGGTAAT	0.458000														148			38		4.40281e-34	5.5674e-34	1	1	0
TDRD9	122402	broad.mit.edu	37	14	104473017	104473017	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104473017G>A	uc001yom.4	+	16	1944	c.1914G>A	c.(1912-1914)atG>atA	p.M638I	TDRD9_uc001yon.4_Missense_Mutation_p.M376I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	638					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TTTTTGCAATGCCTTTCCGGC	0.328000														34			5		0	0	1	0	0
ME2	4200	broad.mit.edu	37	18	48447034	48447034	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48447034C>T	uc002ley.3	+	8	1107	c.848C>T	c.(847-849)aCa>aTa	p.T283I	ME2_uc010dpd.3_Missense_Mutation_p.T283I	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					malate metabolic process	mitochondrial matrix	NAD binding|electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CTTACAGGGACAGCTGCAGTA	0.348000														74			19		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975154	20975154	+	Missense_Mutation	SNP	T	C	C	rs143271654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975154T>C	uc010vbe.2	-	52	10052	c.10052A>G	c.(10051-10053)gAc>gGc	p.D3351G	DNAH3_uc010vbd.2_Missense_Mutation_p.D786G	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3351					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGTGAAATGGTCAATGATGTA	0.473000														202			46		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55892654	55892654	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55892654G>T	uc010qhy.1	-	15	2308	c.1913C>A	c.(1912-1914)gCt>gAt	p.A638D	PCDH15_uc010qhq.2_Missense_Mutation_p.A638D|PCDH15_uc010qhr.2_Missense_Mutation_p.A633D|PCDH15_uc021pqv.1_Missense_Mutation_p.A633D|PCDH15_uc021pqw.1_Missense_Mutation_p.A645D|PCDH15_uc010qht.2_Missense_Mutation_p.A640D|PCDH15_uc021pqx.1_Missense_Mutation_p.A633D|PCDH15_uc001jjv.1_Missense_Mutation_p.A611D|PCDH15_uc021pqy.1_Missense_Mutation_p.A633D|PCDH15_uc021pqz.1_Missense_Mutation_p.A611D|PCDH15_uc010qhv.1_Missense_Mutation_p.A633D|PCDH15_uc010qhw.1_Missense_Mutation_p.A596D|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Missense_Mutation_p.A633D|PCDH15_uc010qia.1_Missense_Mutation_p.A611D|PCDH15_uc001jju.1_Missense_Mutation_p.A633D|PCDH15_uc010qib.1_Missense_Mutation_p.A611D|PCDH15_uc001jjw.3_Missense_Mutation_p.A633D	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	633	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATAAAACAGCACCAACCCT	0.388000										HNSCC(58;0.16)				31			7		0.000157383	0.000162836	1	1	0
AP4E1	23431	broad.mit.edu	37	15	51207651	51207651	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51207651A>T	uc001zyx.2	+	2	336	c.229A>T	c.(229-231)Atg>Ttg	p.M77L	AP4E1_uc021skz.1_Missense_Mutation_p.M2L|AP4E1_uc010ufi.2_Missense_Mutation_p.M77L|AP4E1_uc010ufj.2_Non-coding_Transcript|AP4E1_uc010ufk.2_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	77					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TCAGAAAATGATGAAGGAATG	0.303000														49			10		0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726479	25726479	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25726479C>T	uc003nfc.3	-	0	312	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	93					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTATTGAGTTCCTCATCATTG	0.542000														268			78		0	0	1	0	0
GAL3ST4	79690	broad.mit.edu	37	7	99758090	99758090	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99758090C>T	uc003utt.3	-	2	1939	c.922G>A	c.(922-924)Gat>Aat	p.D308N	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.D246N|GAL3ST4_uc003utu.3_Missense_Mutation_p.D308N	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	308					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATGACTCATCGAAGTACTCA	0.557000														241			59		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81625165	81625165	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81625165G>A	uc021ssk.1	-	21	2898	c.2898C>T	c.(2896-2898)ctC>ctT	p.L966L	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	966						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGCCCGACGGAGGTCTATCA	0.577000														41			9		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609955	42609955	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609955A>G	uc003bcj.1	-	0	1491	c.1357T>C	c.(1357-1359)Ttg>Ctg	p.L453L	TCF20_uc003bck.1_Silent_p.L453L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						AAACTACTCAACCCAGGATCT	0.488000														198			17		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50329607	50329607	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50329607C>T	uc002xwg.1	-	3	334	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	ATP9A_uc010gih.1_Missense_Mutation_p.V97M	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	112					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGCCAGCACGAAGCCCTGC	0.627000														30			6		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115965247	115965247	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115965247C>T	uc004bgs.2	-	4	546	c.393G>A	c.(391-393)gaG>gaA	p.E131E	FKBP15_uc010muu.1_Silent_p.E195E|FKBP15_uc011lxd.1_Silent_p.E63E|FKBP15_uc010mut.1_5'UTR|FKBP15_uc004bgt.2_Silent_p.E131E	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	131	Important for function in growth cone organization (By similarity).				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTACCATTAGCTCAAAGTTCA	0.378000														18			6		0	0	1	0	0
CCDC144A	9720	broad.mit.edu	37	17	16594033	16594033	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16594033G>A	uc002gqk.1	+	0	395	c.319G>A	c.(319-321)Gtg>Atg	p.V107M		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	107																	AGACACTGGCGTGGACAAGAG	0.652000														497			109		0	0	1	0	0
CIZ1	25792	broad.mit.edu	37	9	130942771	130942771	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130942771G>A	uc011mas.2	-	6	969	c.804C>T	c.(802-804)atC>atT	p.I268I	CIZ1_uc004btr.3_Silent_p.I238I|CIZ1_uc004bts.3_Silent_p.I209I|CIZ1_uc011maq.2_Silent_p.I233I|CIZ1_uc004btu.3_Silent_p.I214I|CIZ1_uc004btt.3_Silent_p.I238I|CIZ1_uc011mar.2_Silent_p.I137I|CIZ1_uc004btw.3_Silent_p.I238I|CIZ1_uc004btv.3_Silent_p.I238I|CIZ1_uc004btx.2_Silent_p.I214I	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	238						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TTTCCTTGGCGATGTCCTCTG	0.547000														216			35		0	0	1	0	0
HSPD1	3329	broad.mit.edu	37	2	198361910	198361910	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198361910G>A	uc002uui.3	-	2	518	c.381C>T	c.(379-381)ggC>ggT	p.G127G	HSPD1_uc010zgx.2_Silent_p.G127G|HSPD1_uc010fsm.3_Intron|HSPD1_uc002uuk.3_Silent_p.G127G|HSPD1_uc010zgy.1_Silent_p.G127G|HSPE1-MOB4_uc002uul.3_5'Flank|HSPE1-MOB4_uc021vum.1_5'Flank	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			TCTTCTCGAAGCCTTCCTTGG	0.453000														108			22		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14747318	14747318	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14747318C>A	uc003zlm.3	-	33	6769	c.5953G>T	c.(5953-5955)Gaa>Taa	p.E1985*	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Non-coding_Transcript|FREM1_uc003zll.3_Nonsense_Mutation_p.E521*	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1985					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		TGAGGCAGTTCTGCCACTTTG	0.423000														153			27		1.42536e-11	1.62618e-11	1	1	0
ADH7	131	broad.mit.edu	37	4	100341936	100341936	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100341936G>T	uc003huv.2	-	5	856	c.615C>A	c.(613-615)tcC>tcA	p.S205S	ADH7_uc021xqj.1_Silent_p.S213S	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	205					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity	p.G204C(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CGACGCAAGTGGAACCAGGTT	0.473000														76			15		8.60227e-14	1.00624e-13	1	1	0
UBASH3A	53347	broad.mit.edu	37	21	43846890	43846890	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43846890A>G	uc002zbe.3	+	7	1215	c.1131A>G	c.(1129-1131)ccA>ccG	p.P377P	UBASH3A_uc002zbf.3_Silent_p.P339P|UBASH3A_uc010gpe.3_Silent_p.P339P|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	377						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AATTTCTTCCACAAACGGCAA	0.448000														102			30		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063833	15063833	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063833G>A	uc002naa.1	-	7	1413	c.1406C>T	c.(1405-1407)cCc>cTc	p.P469L	SLC1A6_uc010dzu.1_Missense_Mutation_p.P391L|SLC1A6_uc010xod.1_Missense_Mutation_p.P405L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	469					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	ACCCGCCTGGGGGATGCCAGC	0.607000														256			44		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56973726	56973726	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56973726C>T	uc002qne.3	-	3	805	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_Missense_Mutation_p.R5Q|ZNF667_uc010etm.3_5'UTR	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R5R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATTTCCCCCGTGCAGAAGG	0.537000														229			41		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72067200	72067200	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72067200C>A	uc004ahh.2	-	8	2082	c.1806G>T	c.(1804-1806)caG>caT	p.Q602H		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	602	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTCCGATGGACTGTGCAATCA	0.557000														106			19		5.03518e-11	5.70985e-11	1	1	0
USP25	29761	broad.mit.edu	37	21	17181149	17181149	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181149C>T	uc011aby.1	+	7	1019	c.802C>T	c.(802-804)Cac>Tac	p.H268Y	USP25_uc002yjz.1_Missense_Mutation_p.H268Y|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.H268Y	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	268					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGTTTACACACAAATTATT	0.348000														27			6		0	0	1	0	0
NPHP1	4867	broad.mit.edu	37	2	110936030	110936030	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110936030G>T	uc002tfn.4	-	3	393	c.299C>A	c.(298-300)gCt>gAt	p.A100D	NPHP1_uc002tfm.4_Missense_Mutation_p.A100D|NPHP1_uc002tfl.4_Missense_Mutation_p.A100D|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Missense_Mutation_p.A100D|NPHP1_uc010fjv.1_Missense_Mutation_p.A100D|NPHP1_uc021vme.1_Missense_Mutation_p.A100D	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	100					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TATTGTCACAGCAAGGCCCTG	0.363000														79			34		2.47316e-13	2.8801e-13	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38942978	38942978	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38942978C>T	uc003jlo.2	-	37	5103	c.5081G>A	c.(5080-5082)cGg>cAg	p.R1694Q	RICTOR_uc003jlp.2_Missense_Mutation_p.R1670Q|RICTOR_uc010ivf.2_Missense_Mutation_p.R1347Q	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1670					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGAACCTCCGACACGGAAG	0.343000														58			12		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504591	151504591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504591C>T	uc003ilw.3	+	0	1515	c.410C>T	c.(409-411)gCc>gTc	p.A137V	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	137					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		ACGCTGGTGGCCCAGGCGGTG	0.602000														238			61		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419371	179419371	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419371T>C	uc021vsy.1	-	280	81224	c.80999A>G	c.(80998-81000)cAc>cGc	p.H27000R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H20695R|TTN_uc021vta.1_Missense_Mutation_p.H20628R|TTN_uc021vtb.1_Missense_Mutation_p.H20503R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27927	Fibronectin type-III 96.						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)			CACAATGTAGTGAGTGATTTT	0.468000														134			74		0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116187992	116187992	+	Missense_Mutation	SNP	G	A	A	rs145109883		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116187992G>A	uc004bhp.3	+	10	1458	c.1012G>A	c.(1012-1014)Gtt>Att	p.V338I	C9orf43_uc004bho.4_Missense_Mutation_p.V338I	NM_152786	NP_689999	Q8TAL5	CI043_HUMAN	Homo sapiens chromosome 9 open reading frame 43 (C9orf43), mRNA.	338										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGTTACCACCGTTCATGACCG	0.478000														80			11		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48631916	48631916	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48631916G>A	uc003ctz.2	-	1	152	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	51	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAATTGCTGCGGCCAATGGAT	0.602000														65			24		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926338	22926338	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926338G>A	uc002dli.3	+	1	631	c.559G>A	c.(559-561)Gct>Act	p.A187T		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	187						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CACTCAAGAGGCTCCTCGACG	0.562000														231			67		0	0	1	0	0
CASC1	55259	broad.mit.edu	37	12	25263104	25263104	+	Missense_Mutation	SNP	C	T	T	rs139550496		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25263104C>T	uc001rgk.3	-	14	1932	c.1850G>A	c.(1849-1851)aGc>aAc	p.S617N	CASC1_uc001rgj.3_Missense_Mutation_p.S571N|CASC1_uc001rgm.4_Missense_Mutation_p.S675N|CASC1_uc001rgl.3_Missense_Mutation_p.S611N|CASC1_uc010sje.2_Missense_Mutation_p.S552N|CASC1_uc010sjf.2_Missense_Mutation_p.S499N	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	611										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GTTCCACTTGCTCCAACCAAA	0.348000														86			20		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92101141	92101141	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:92101141A>C	uc010tif.2	+	1	656	c.290A>C	c.(289-291)aAg>aCg	p.K97T		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	97						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TCTACATTAAAGTTTCTAATA	0.423000														118			28		0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111724395	111724395	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111724395G>A	uc010rwn.2	-	5	727	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	ALG9_uc001ply.3_Silent_p.L85L|ALG9_uc001plz.3_Silent_p.L85L|ALG9_uc021qql.1_Silent_p.L85L|ALG9_uc021qqm.1_Silent_p.L85L|ALG9_uc010rwo.2_Silent_p.L84L|ALG9_uc009yyh.1_Silent_p.L151L	NM_001077692	NP_001071160	Q9H6U8	ALG9_HUMAN	Homo sapiens asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae) (ALG9), transcript variant 4, mRNA.	256					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		AGGGCCATCAGCGACCAATGA	0.378000														110			15		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74424519	74424519	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74424519G>T	uc001ovh.3	-	2	454	c.201C>A	c.(199-201)gcC>gcA	p.A67A	CHRDL2_uc001ovg.3_Intron|CHRDL2_uc001ovi.3_Silent_p.A67A|CHRDL2_uc001ovk.1_Silent_p.A67A	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	67	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					AACTCACATGGGCGCCCTGAA	0.577000														80			19		2.94398e-08	3.21697e-08	1	1	0
PPP2R5A	5525	broad.mit.edu	37	1	212519209	212519209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212519209G>A	uc001hjb.3	+	4	1212	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	PPP2R5A_uc010ptd.2_Missense_Mutation_p.R156Q	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	213					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GTTCTGCACCGAATTTATGGG	0.323000														72			14		0	0	1	0	0
TSKS	60385	broad.mit.edu	37	19	50243181	50243181	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50243181A>G	uc002ppm.3	-	10	1642	c.1631T>C	c.(1630-1632)aTg>aCg	p.M544T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	544							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CAGAGTGGCCATCTTCTCCCT	0.592000														211			34		0	0	1	0	0
SLC25A17	10478	broad.mit.edu	37	22	41166939	41166939	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41166939G>T	uc003azc.3	-	8	963	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Missense_Mutation_p.L238M|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.L202M	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	275	Interaction with PEX19.				fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTGTCTGCAGCAGTTTGGCT	0.468000														305			56		2.6711e-34	3.37823e-34	1	1	0
ZFPM1	161882	broad.mit.edu	37	16	88601210	88601210	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88601210G>A	uc002fkv.3	+	9	2877	c.2844G>A	c.(2842-2844)gcG>gcA	p.A948A		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	948					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		ccccgccggcgcccccCTCCT	0.791000														76			8		0	0	1	0	0
UBXN2B	137886	broad.mit.edu	37	8	59360082	59360082	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59360082A>G	uc003xtl.3	+	7	1090	c.968A>G	c.(967-969)aAc>aGc	p.N323S		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	323	UBX.					Golgi apparatus|cytosol|endoplasmic reticulum|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						GATATTCTTAACACTGTGTTA	0.393000														75			20		0	0	1	0	0
SRRD	402055	broad.mit.edu	37	22	26887573	26887573	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26887573T>C	uc010gve.3	+	6	962	c.955T>C	c.(955-957)Tat>Cat	p.Y319H	SRRD_uc003acp.4_Missense_Mutation_p.Y312H	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	319					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AGAACCAGATTATCAGGACTG	0.443000														112			6		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251584	160251584	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160251584T>G	uc003iqg.4	+	6	1228	c.918T>G	c.(916-918)ctT>ctG	p.L306L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	306	N-terminal Ras-GEF.				MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGACTTTTCTTTCTAGCCCAA	0.383000														125			28		0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93712552	93712552	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93712552G>A	uc001ybo.3	-	9	2528	c.2202C>T	c.(2200-2202)cgC>cgT	p.R734R	BTBD7_uc010aur.3_Silent_p.R259R|BTBD7_uc010two.2_Silent_p.R554R|BTBD7_uc001ybp.3_Silent_p.R383R	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	734										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TACTGTTTACGCGACATCTCC	0.468000														213			35		0	0	1	0	0
ZNF286A	57335	broad.mit.edu	37	17	15620048	15620048	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15620048G>A	uc010cot.3	+	5	1406	c.1010G>A	c.(1009-1011)cGa>cAa	p.R337Q	ZNF286A_uc002goz.4_Missense_Mutation_p.R225Q|ZNF286A_uc010vwa.2_Missense_Mutation_p.R337Q|ZNF286A_uc002gpa.3_Missense_Mutation_p.R337Q	NM_001130842	NP_065703	Q9HBT8	Z286A_HUMAN	Homo sapiens zinc finger protein 286A (ZNF286A), transcript variant 2, mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R337Q(2)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		GGTTTTAATCGAAGTACACAT	0.378000														74			5		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175911	140175911	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175911G>A	uc003lhd.2	+	0	1468	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A454A|PCDHAC2_uc011czy.2_Silent_p.A454A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		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)			ACGCGCCGGCGTTCGCACAGC	0.647000														296			66		0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81198334	81198334	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81198334T>G	uc002fgh.1	-	19	3260	c.3260A>C	c.(3259-3261)gAt>gCt	p.D1087A	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1087	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTCTGCGGCATCAGGGCGCAG	0.597000														99			44		0	0	1	0	0
TWISTNB	221830	broad.mit.edu	37	7	19748552	19748552	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19748552C>A	uc003sup.1	-	0	109	c.88G>T	c.(88-90)Gag>Tag	p.E30*		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	30						microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GTCGGCAACTCTAGGCAAGGC	0.652000											OREG0017879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			8		0.000157383	0.000162836	1	1	0
RNF146	81847	broad.mit.edu	37	6	127608756	127608756	+	Missense_Mutation	SNP	G	A	A	rs143742264		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608756G>A	uc021zes.1	+	2	1134	c.998G>A	c.(997-999)cGa>cAa	p.R333Q	RNF146_uc021zet.1_Missense_Mutation_p.R332Q|RNF146_uc021zeu.1_Missense_Mutation_p.R332Q|RNF146_uc021zev.1_Missense_Mutation_p.R332Q|RNF146_uc021zew.1_Missense_Mutation_p.R333Q|RNF146_uc003qat.3_Missense_Mutation_p.R332Q|RNF146_uc021zex.1_Missense_Mutation_p.R332Q|RNF146_uc003qaw.3_Missense_Mutation_p.R332Q|RNF146_uc003qau.3_Missense_Mutation_p.R332Q|RNF146_uc003qav.3_Missense_Mutation_p.R333Q|RNF146_uc021zey.1_Missense_Mutation_p.R332Q	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	333					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGAACTGATCGATCAGTAGCA	0.463000														109			20		0	0	1	0	0
SAMM50	25813	broad.mit.edu	37	22	44368749	44368749	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44368749A>C	uc003bej.3	+	6	627	c.430_splice	c.e6-2	p.V144_splice	SAMM50_uc011aqd.2_Intron|SAMM50_uc003bek.3_5'Flank	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	144					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				TTCCCCTCCTAGGTACTTGGC	0.403000														188			26		0	0	1	0	0
OR56A5	390084	broad.mit.edu	37	11	5988906	5988906	+	Silent	SNP	C	T	T	rs115262808	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5988906C>T	uc010qzu.2	-	0	819	c.819G>A	c.(817-819)ccG>ccA	p.P273P		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	273						integral to membrane|plasma membrane	olfactory receptor activity										TGGGGACATCCGGAGGAATTC	0.517000														40			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179568946	179568946	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179568946G>A	uc021vsy.1	-	102	26644	c.26419C>T	c.(26419-26421)Cga>Tga	p.R8807*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.R5468*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9734	Ig-like 71.						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)			TCTTCTGCTCGAACATCTGCA	0.423000														158			61		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43774659	43774659	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43774659C>T	uc001ciu.3	+	7	1222	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	TIE1_uc010okd.2_Missense_Mutation_p.R349W|TIE1_uc010oke.2_Missense_Mutation_p.R304W|TIE1_uc009vwq.3_Missense_Mutation_p.R305W|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.2_5'UTR|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	349					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCCCAGACCGGATCCCCCA	0.587000														125			30		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42276014	42276014	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42276014G>A	uc021sjp.1	-	19	2545	c.2545C>T	c.(2545-2547)Ctc>Ttc	p.L849F	PLA2G4E_uc010udc.2_Missense_Mutation_p.L292F|PLA2G4E_uc001zov.2_Missense_Mutation_p.L473F	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	837	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGAGCCTGGAGGAGAGTGTCC	0.547000														19			8		0	0	1	0	0
ETV2	2116	broad.mit.edu	37	19	36134268	36134268	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36134268G>T	uc002oas.2	+	3	851	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	ETV2_uc002oar.2_Missense_Mutation_p.G110C|ETV2_uc002oat.2_Missense_Mutation_p.G17C|ETV2_uc002oau.2_Intron	NM_014209	NP_055024	B9EIN1	B9EIN1_HUMAN	Homo sapiens ets variant 2 (ETV2), mRNA.	110							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCAGACCCTGGGCCCCGCCCC	0.741000														16			5		0.000602214	0.000618135	1	1	0
LRRN4	164312	broad.mit.edu	37	20	6022592	6022592	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6022592C>T	uc002wmo.2	-	4	1523	c.1299G>A	c.(1297-1299)acG>acA	p.T433T		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	433						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CAGAGTTGGTCGTGGAGGGGG	0.647000														193			39		0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42163582	42163582	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42163582G>A	uc002xkn.1	+	9	963	c.832_splice	c.e9+1	p.G278_splice	L3MBTL1_uc010zwh.2_Splice_Site_p.G587_splice|L3MBTL1_uc002xkm.3_Splice_Site_p.G519_splice|L3MBTL1_uc010ggl.3_Splice_Site_p.G519_splice|L3MBTL1_uc002xkl.3_Splice_Site_p.G519_splice|L3MBTL1_uc002xko.3_Splice_Site_p.G171_splice	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	Homo sapiens l(3)mbt-like 1 (Drosophila) (L3MBTL1), transcript variant I, mRNA.	519					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	SAM domain binding|identical protein binding|methylated histone residue binding|nucleosomal histone binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCCTCCTCTCGGTGTGTACCC	0.552000														39			9		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413655	178413655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413655C>T	uc003mjr.3	-	7	1779	c.1600G>A	c.(1600-1602)Gtc>Atc	p.V534I	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.V117I|GRM6_uc003mjs.1_Missense_Mutation_p.V154I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	534					detection of visible light|visual perception	integral to plasma membrane		p.G533G(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGCAGGGGACGCCCTTCACC	0.682000														124			46		0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70534950	70534950	+	Missense_Mutation	SNP	C	T	T	rs146268306	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70534950C>T	uc002ezc.3	-	8	1117	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	COG4_uc002ezd.3_Missense_Mutation_p.R369H|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_Missense_Mutation_p.R63H	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	365					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.R369H(2)|p.A368V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAGCTCACTGCGGGCATTCAT	0.478000														92			15		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46145986	46145986	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46145986G>A	uc002ldd.3	+	2	409	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CTIF_uc002ldc.3_Missense_Mutation_p.R17H	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	17	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGGAGCAGCCGCTCCCAGGAG	0.637000														29			4		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407472	179407472	+	Missense_Mutation	SNP	G	T	T	rs146098114	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179407472G>T	uc021vsy.1	-	296	89630	c.89405C>A	c.(89404-89406)aCt>aAt	p.T29802N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T23497N|TTN_uc021vta.1_Missense_Mutation_p.T23430N|TTN_uc021vtb.1_Missense_Mutation_p.T23305N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30729	Fibronectin type-III 117.						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)			ATCTCTGATAGTGGTTTCACG	0.393000														204			39		6.29468e-14	7.37188e-14	1	1	0
ARHGEF15	22899	broad.mit.edu	37	17	8215524	8215524	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8215524C>A	uc002glc.3	+	1	322	c.167C>A	c.(166-168)cCa>cAa	p.P56Q	ARHGEF15_uc002glb.2_Missense_Mutation_p.P56Q|ARHGEF15_uc002gld.3_Missense_Mutation_p.P56Q|ARHGEF15_uc010vuw.2_Missense_Mutation_p.P56Q	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	56	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCACCAACCCCAATGTGCACC	0.622000														225			61		8.52622e-23	1.0525e-22	1	1	0
KLHL10	317719	broad.mit.edu	37	17	39998189	39998189	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998189T>C	uc010cxr.3	+	1	451	c.309T>C	c.(307-309)ccT>ccC	p.P103P	KLHL10_uc010wfv.1_Silent_p.P97P|KLHL10_uc010wfw.2_Silent_p.P15P	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	103	BTB.					cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				GGACCGTGCCTATCACACCGG	0.493000														124			30		0	0	1	0	0
AHCYL1	10768	broad.mit.edu	37	1	110555585	110555585	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110555585A>C	uc001dyx.3	+	4	832	c.544A>C	c.(544-546)Act>Cct	p.T182P	AHCYL1_uc010ovw.2_Missense_Mutation_p.T135P|AHCYL1_uc021ork.1_Missense_Mutation_p.T135P|AHCYL1_uc010ovx.2_Missense_Mutation_p.T135P|AHCYL1_uc001dyy.3_Missense_Mutation_p.T135P	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	182					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CATCTACTCAACTCAGAATGA	0.473000														51			6		0	0	1	0	0
ZSCAN16	80345	broad.mit.edu	37	6	28093345	28093345	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28093345C>T	uc003nkm.3	+	1	224	c.124C>T	c.(124-126)Caa>Taa	p.Q42*	AK309286_uc010jqw.1_Intron|AK309286_uc003nkk.1_Intron|AK309286_uc003nkl.1_Intron|ZSCAN16_uc011dky.1_Nonsense_Mutation_p.Q42*	NM_025231	NP_079507	Q9H4T2	ZSC16_HUMAN	Homo sapiens zinc finger and SCAN domain containing 16 (ZSCAN16), mRNA.	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						ACTCTATAGACAACACTTCAG	0.527000														400			85		0	0	1	0	0
XKR6	286046	broad.mit.edu	37	8	10755726	10755726	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10755726G>A	uc003wtk.1	-	2	1689	c.1662C>T	c.(1660-1662)ctC>ctT	p.L554L		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	554						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGTCAGCCGTGAGATCCTCCT	0.612000														80			15		0	0	1	0	0
FST	10468	broad.mit.edu	37	5	52779404	52779404	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52779404C>T	uc003jpd.3	+	2	706	c.348C>T	c.(346-348)tgC>tgT	p.C116C	FST_uc003jpc.3_Silent_p.C116C	NM_013409	NP_037541	P19883	FST_HUMAN	Homo sapiens follistatin (FST), transcript variant FST344, mRNA.	116	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				AACCCCGCTGCGTCTGCGCCC	0.502000														77			25		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45484670	45484670	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45484670C>T	uc001cnd.2	-	13	3242	c.3014G>A	c.(3013-3015)cGc>cAc	p.R1005H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	1005							zinc ion binding	p.R1005H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTCCATGTAGCGGGCGATGGT	0.557000											OREG0013450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			50		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953185	70953185	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953185T>G	uc001swb.4	-	15	4028	c.3998A>C	c.(3997-3999)aAg>aCg	p.K1333T	PTPRB_uc010sto.2_Missense_Mutation_p.K1243T|PTPRB_uc010stp.2_Missense_Mutation_p.K1243T|PTPRB_uc001swc.4_Missense_Mutation_p.K1551T|PTPRB_uc001swa.4_Missense_Mutation_p.K1463T|PTPRB_uc001swd.4_Missense_Mutation_p.K1550T|PTPRB_uc009zrr.2_Missense_Mutation_p.K1430T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1333	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTGACAGTCTTGACGTTGAA	0.413000														237			67		0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42174349	42174349	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42174349A>G	uc003xow.2	+	10	1238	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	IKBKB_uc003xov.3_Missense_Mutation_p.Q351R|IKBKB_uc010lxh.2_Missense_Mutation_p.Q246R|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Missense_Mutation_p.Q72R|IKBKB_uc010lxj.2_Missense_Mutation_p.Q128R|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.Q349R|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.Q292R	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	351					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|IkappaB kinase activity|identical protein binding			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GAGGAGGACCAGGAGCTGCTG	0.592000														58			11		0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175754	79175754	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175754G>T	uc001vkv.3	-	1	1290	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	352					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G352G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTTCTCGCCGCCGTTGAAGA	0.652000														128			13		0.00185496	0.00189487	1	1	0
DSC2	1824	broad.mit.edu	37	18	28672216	28672216	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672216C>A	uc002kwl.4	-	2	656	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	DSC2_uc002kwk.4_Missense_Mutation_p.D68Y|DSC2_uc010xbo.1_Missense_Mutation_p.D68Y	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	68					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			AAGTCAGGATCACTTGAATGA	0.333000														65			11		4.68919e-08	5.11014e-08	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215847042	215847042	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215847042A>G	uc002vew.3	-	29	4668	c.4448T>C	c.(4447-4449)aTg>aCg	p.M1483T	ABCA12_uc002vev.3_Missense_Mutation_p.M1165T|ABCA12_uc010zjn.2_Missense_Mutation_p.M410T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1483	ABC transporter 1.				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)		CTTCCTCTTCATGCCTCCTGA	0.383000														128			21		0	0	1	0	0
GSTO2	119391	broad.mit.edu	37	10	106058905	106058905	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106058905G>A	uc001kyb.3	+	6	1223	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	GSTO2_uc010qqx.2_Missense_Mutation_p.A165T|GSTO2_uc001kyc.3_Missense_Mutation_p.A171T|GSTO2_uc021pxu.1_Missense_Mutation_p.A137T|GSTO2_uc010qqy.2_Missense_Mutation_p.S101N	NM_183239	NP_001177943	Q9H4Y5	GSTO2_HUMAN	Homo sapiens glutathione S-transferase omega 2 (GSTO2), transcript variant 1, mRNA.	199	GST C-terminal.				water-soluble vitamin metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.178)		Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155)	Glutathione(DB00143)	CCACACGCCAGCCCTGCGGCT	0.512000														135			30		0	0	1	0	0
TIMP3	7078	broad.mit.edu	37	22	33255181	33255181	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33255181C>T	uc003anb.3	+	4	1639	c.453C>T	c.(451-453)taC>taT	p.Y151Y	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	151	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						AGTCCTGCTACTACCTGCCTT	0.532000														154			25		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310287	56310287	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310287G>A	uc010rjl.2	-	0	447	c.447C>T	c.(445-447)gtC>gtT	p.V149V	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGAAGCCATAGACATAGGGAA	0.527000														44			14		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96044717	96044717	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96044717T>C	uc001kjk.3	+	21	5664	c.5030T>C	c.(5029-5031)tTt>tCt	p.F1677S	PLCE1_uc010qnx.2_Missense_Mutation_p.F1661S|PLCE1_uc001kjm.3_Missense_Mutation_p.F1369S|PLCE1_uc001kjp.3_Missense_Mutation_p.F35S|LOC100128054_uc001kjo.2_Intron	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1677					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCAGTAAAATTTCCAGGTAAG	0.318000														49			11		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025405	34025405	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34025405C>T	uc010gfc.1	-	0	545	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	GDF5_uc002xck.1_Missense_Mutation_p.G102S	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	102					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TCAGGGCCGCCCGGTCTGGGG	0.647000														126			35		0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99909020	99909020	+	Missense_Mutation	SNP	G	A	A	rs149258901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909020G>A	uc010yvo.2	-	4	457	c.127C>T	c.(127-129)Cgt>Tgt	p.R43C	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Missense_Mutation_p.R43C	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	43					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						AGGCCGTGACGTCTTCCAATC	0.512000														135			26		0	0	1	0	0
GDPGP1	390637	broad.mit.edu	37	15	90785069	90785069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90785069G>A	uc002bpc.3	+	3	1108	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	GDPGP1_uc021suh.1_Missense_Mutation_p.R310Q	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN	Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.	310					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity										ACAGGGGTCCGAGTAATTCTG	0.537000														141			31		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32768363	32768363	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32768363C>T	uc001utx.3	+	28	4171	c.3675C>T	c.(3673-3675)gaC>gaT	p.D1225D	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GGGCAATTGACCGATGCTACA	0.428000														130			26		0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45821181	45821181	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45821181C>A	uc002pbd.3	-	2	423	c.250G>T	c.(250-252)Gtt>Ttt	p.V84F		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	84	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	TCCTTGAAAACTTCGTAGGAC	0.557000														83			14		1.5842e-08	1.73923e-08	1	1	0
SATB1	6304	broad.mit.edu	37	3	18462353	18462353	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:18462353T>C	uc003cbh.3	-	1	1842	c.107A>G	c.(106-108)aAc>aGc	p.N36S	SATB1_uc003cbi.3_Missense_Mutation_p.N36S|SATB1_uc003cbj.3_Missense_Mutation_p.N36S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	36					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CGGGCTCCCGTTCTGCTCCAG	0.512000														216			53		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065886	23065886	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23065886G>A	uc002wsv.3	-	0	1092	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	315	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACG	0.632000														176			29		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453694	453694	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:453694T>C	uc003jba.3	+	3	702	c.574T>C	c.(574-576)Tgg>Cgg	p.W192R		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	203					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAAGCAGCTGTGGATGGTGCT	0.567000														123			32		0	0	1	0	0
CASP10	843	broad.mit.edu	37	2	202050562	202050562	+	Missense_Mutation	SNP	G	A	A	rs140813639	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202050562G>A	uc002uxj.1	+	1	480	c.62G>A	c.(61-63)cGt>cAt	p.R21H	CASP10_uc002uxi.1_Missense_Mutation_p.R21H|CASP10_uc010zhn.1_Non-coding_Transcript|CASP10_uc010ftb.2_Missense_Mutation_p.R21H|CASP10_uc010fta.1_Missense_Mutation_p.R21H|CASP10_uc002uxk.1_Missense_Mutation_p.R21H|CASP10_uc002uxl.2_Missense_Mutation_p.R21H|CASP10_uc002uxm.2_Missense_Mutation_p.R21H	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	21	DED 1.		R -> C (found in a multiple myeloma sample; somatic mutation).		apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTGAGCTTTCGTGAGAAGCTT	0.463000														134			44		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28195094	28195094	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28195094C>T	uc003adj.3	-	0	2393	c.1438G>A	c.(1438-1440)Ggc>Agc	p.G480S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	480							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TCCAGAGCGCCGTTGTGCATG	0.682000			T	ETV6	"""AML, meningioma"""									67			13		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32490443	32490443	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32490443T>C	uc001rku.3	+	6	2344	c.2263T>C	c.(2263-2265)Tat>Cat	p.Y755H	BICD1_uc001rkv.3_Missense_Mutation_p.Y755H|BICD1_uc010skd.2_Non-coding_Transcript|BICD1_uc001rkw.1_Missense_Mutation_p.Y37H	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	755	Interacts with RAB6A.				RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATGTGATGAATATGTCACCCA	0.403000														110			19		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77671486	77671486	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77671486C>T	uc011bgk.2	+	23	4318	c.3675C>T	c.(3673-3675)gcC>gcT	p.A1225A	ROBO2_uc021xat.1_Silent_p.A1237A|ROBO2_uc003dpy.4_Silent_p.A1221A|ROBO2_uc003dpz.3_Silent_p.A1225A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1221					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATGATGATGCCGACGACGAAG	0.498000														98			23		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97823515	97823515	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823515C>T	uc003upd.2	+	10	4031	c.3738C>T	c.(3736-3738)tcC>tcT	p.S1246S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1246					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGGACAAGTCCCTGTCCAGCC	0.602000														81			18		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3240630	3240630	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3240630C>T	uc021xkv.1	+	65	9285	c.9140C>T	c.(9139-9141)gCc>gTc	p.A3047V		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	3047					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACGCAGAGGGCCCCGGTCGCC	0.642000														47			16		0	0	1	0	0
TBC1D15	64786	broad.mit.edu	37	12	72300817	72300817	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72300817G>A	uc001swu.3	+	11	1325	c.1250G>A	c.(1249-1251)aGa>aAa	p.R417K	TBC1D15_uc001sww.3_Missense_Mutation_p.R171K|TBC1D15_uc010stt.2_Missense_Mutation_p.R408K|TBC1D15_uc001swv.3_Missense_Mutation_p.R400K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	Homo sapiens TBC1 domain family, member 15 (TBC1D15), transcript variant 1, mRNA.	417	Rab-GAP TBC.						Rab GTPase activator activity|protein binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGTTAACAGAACAGATCGA	0.318000														16			3		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18029702	18029702	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18029702A>C	uc021trm.1	+	3	4017	c.3798A>C	c.(3796-3798)caA>caC	p.Q1266H	MYO15A_uc021trl.1_Missense_Mutation_p.Q1266H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1266	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCATACCAAATGTTTGGAA	0.617000														104			16		0	0	1	0	0
ZNF654	55279	broad.mit.edu	37	3	88188660	88188660	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88188660C>T	uc003dqv.3	+	0	399	c.200C>T	c.(199-201)aCt>aTt	p.T67I	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E66*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGGAAGTCACTGCTTTGGAA	0.373000														65			10		0	0	1	0	0
TTLL10	254173	broad.mit.edu	37	1	1115463	1115463	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1115463G>A	uc001acy.2	+	5	400	c.249G>A	c.(247-249)cgG>cgA	p.R83R	AK128833_uc001acx.1_5'Flank|TTLL10_uc010nyg.1_Silent_p.R83R|TTLL10_uc001acz.2_Silent_p.R10R	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	83					protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGGACTCCGGTGTCAGCCAA	0.701000														34			8		0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27497259	27497259	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27497259G>A	uc001itr.1	-	9	1407	c.687C>T	c.(685-687)atC>atT	p.I229I	ACBD5_uc010qdm.2_Silent_p.I438I|ACBD5_uc010qdn.2_Silent_p.I331I|ACBD5_uc010qdo.2_Silent_p.I263I|ACBD5_uc010qdp.2_Silent_p.I440I|ACBD5_uc001ito.3_Silent_p.I405I|ACBD5_uc001itp.3_Silent_p.I331I|ACBD5_uc001itq.3_Silent_p.I331I			Q5T8D3	ACBD5_HUMAN	Homo sapiens acyl-CoA binding domain containing 5 (ACBD5), transcript variant 3, non-coding RNA.	449					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GCACGAGGGCGATCTGCTCAT	0.572000														234			19		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073466	134073466	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073466C>T	uc003iha.3	+	0	2997	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L	PCDH10_uc003igz.3_Missense_Mutation_p.S724L	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	724					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGTTGGGCTCGGTGTCCTTC	0.602000														187			51		0	0	1	0	0
NT5DC3	51559	broad.mit.edu	37	12	104179235	104179235	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104179235C>A	uc010swe.1	-	11	1248	c.1207G>T	c.(1207-1209)Ggc>Tgc	p.G403C		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	403							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTCCTCCAGCCATGCTTTAGG	0.443000														126			24		5.35356e-11	6.06456e-11	1	1	0
G2E3	55632	broad.mit.edu	37	14	31077197	31077197	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31077197C>T	uc001wqk.2	+	11	1576	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	G2E3_uc010tpe.1_3'UTR|G2E3_uc010tpf.1_Silent_p.C428C	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	474	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTTAACTGCCTTGTTTATG	0.368000														103			14		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70426935G>A	uc001jok.4	+	6	5100	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1532					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488000														44			17		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057635	53057635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53057635G>A	uc010epq.1	+	4	1643	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AATGAGTGTCGCAAGACCTTC	0.433000														174			14		0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16177968	16177968	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16177968C>T	uc003jfo.2	-	1	773	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	BC043001_uc003jfp.3_5'Flank	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	187						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCCATCACATCGGCAGGGGTT	0.418000														79			18		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139371010	139371010	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139371010G>T	uc004chx.3	-	2	1367	c.1058C>A	c.(1057-1059)gCt>gAt	p.A353D	SEC16A_uc004chv.4_5'Flank|SEC16A_uc004chw.3_Missense_Mutation_p.A353D|SEC16A_uc010nbn.3_Missense_Mutation_p.A353D|SEC16A_uc010nbo.1_Missense_Mutation_p.A353D	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	175					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCGGCCCCAGCCCCCAGTGG	0.602000														44			13		7.03913e-09	7.75971e-09	1	1	0
ACRC	93953	broad.mit.edu	37	X	70824397	70824397	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70824397C>T	uc004eae.2	+	7	1771	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	424	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTGGAGCCACCGAGGAAAAG	0.463000														14			8		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54603911	54603911	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54603911A>G	uc003jpy.4	+	0	336	c.70A>G	c.(70-72)Aaa>Gaa	p.K24E	SKIV2L2_uc011cqi.2_5'UTR|DHX29_uc003jpx.3_5'Flank|DHX29_uc010ivw.3_5'Flank	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	24					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GGCGGGAACCAAAAAAGACAA	0.522000														155			30		0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24056620	24056620	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24056620G>A	uc010xbj.2	-	2	1992	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	KCTD1_uc002kvw.3_Silent_p.I56I|KCTD1_uc010xbk.2_Silent_p.I56I|KCTD1_uc002kvy.3_5'UTR	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	56					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			AAAGTCTTCCGATTCTGTGAT	0.388000														41			12		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15791299	15791299	+	Silent	SNP	G	A	A	rs141478890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15791299G>A	uc002nbl.3	+	4	614	c.495G>A	c.(493-495)acG>acA	p.T165T	CYP4F12_uc010xoo.2_Silent_p.T165T|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T165T(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CCTATATAACGATCTTCAACA	0.537000														109			24		0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3170128	3170128	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3170128G>A	uc002cub.3	+	6	1602	c.1467G>A	c.(1465-1467)tcG>tcA	p.S489S	ZNF205_uc002cua.3_Silent_p.S489S	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GCCACAGCTCGCACCTCACCG	0.677000														226			52		0	0	1	0	0
TRA2A	29896	broad.mit.edu	37	7	23556038	23556038	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23556038G>A	uc003swi.3	-	2	493	c.280C>T	c.(280-282)Cga>Tga	p.R94*	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_5'UTR|TRA2A_uc011jzd.2_5'UTR|TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	94	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						CGGCTCCTTCGCCGCCGGTAT	0.443000														71			23		0	0	1	0	0
KCTD8	386617	broad.mit.edu	37	4	44449580	44449580	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:44449580G>A	uc003gwu.3	-	1	1245	c.961_splice	c.e1+1	p.R321_splice		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	321						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GCGAACTTACGGAAGAAAATG	0.662000										HNSCC(17;0.042)				47			13		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928664	113928664	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:113928664C>T	uc009xxy.2	-	9	1051	c.841G>A	c.(841-843)Gat>Aat	p.D281N	GPAM_uc001kzp.3_Missense_Mutation_p.D281N|GPAM_uc001kzq.1_Missense_Mutation_p.D281N	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	281					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGTGTTTCATCGAGCCTTCGT	0.373000														101			25		0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43015757	43015757	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43015757T>G	uc001jab.4	-	4		c.3443A>C			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		ACATTCATGATTTCTCCCCAC	0.428000														18			7		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108042973	108042973	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108042973T>C	uc001pjz.4	-	12	2840	c.2738A>G	c.(2737-2739)aAc>aGc	p.N913S	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.N708S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	913					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATACACTGTTTGACCTTGG	0.403000														250			39		0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45160072	45160072	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45160072C>T	uc003com.3	-	1	259	c.124G>A	c.(124-126)Gtt>Att	p.V42I	CDCP1_uc003con.3_Missense_Mutation_p.V42I	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	42						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTTATGAGAACTGTAATGTTG	0.438000														113			26		0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71109141	71109141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71109141C>T	uc001xmi.2	+	0	638	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	AK093892_uc001xmh.1_5'Flank	NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	99							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GGAACGGGAGCGGGACTCGCG	0.657000														28			3		0	0	1	0	0
ASNSD1	54529	broad.mit.edu	37	2	190531602	190531602	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190531602G>A	uc002uqt.3	+	3	1178	c.744G>A	c.(742-744)ttG>ttA	p.L248L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	248					asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			ATATGATGTTGCCACAAGCTG	0.383000														183			35		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109967770	109967770	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109967770C>T	uc001top.3	+	24	3306	c.2703C>T	c.(2701-2703)agC>agT	p.S901S	UBE3B_uc001toq.3_Silent_p.S901S|UBE3B_uc001tos.3_Silent_p.S328S|UBE3B_uc001tot.3_Silent_p.S19S|UBE3B_uc010sxp.1_Silent_p.S19S	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	901	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCTCATTAGCGGATTCCGTT	0.448000														190			58		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37187945	37187945	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187945C>T	uc011cpa.1	-	22	4043	c.3812_splice	c.e22-1	p.G1271_splice	C5orf42_uc003jks.2_Splice_Site|C5orf42_uc011coz.1_Splice_Site_p.G346_splice|C5orf42_uc011cpb.1_Splice_Site_p.G152_splice	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1271										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CTGAAGCAACCTAAAGCAGGA	0.343000														31			4		0	0	1	0	0
OSTalpha	200931	broad.mit.edu	37	3	195959986	195959986	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195959986A>G	uc003fwd.3	+	8	1140	c.939A>G	c.(937-939)acA>acG	p.T313T	OSTalpha_uc003fwe.3_Silent_p.T180T	NM_152672	NP_689885	Q86UW1	OSTA_HUMAN	Homo sapiens organic solute transporter alpha (OSTalpha), mRNA.	313						integral to membrane|plasma membrane	transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;8.83e-25)|all cancers(36;8.38e-23)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;7.51e-07)|Lung(62;1.06e-06)	GBM - Glioblastoma multiforme(46;0.00202)		CTGTGCTGACACGAATGTACT	0.468000														206			49		0	0	1	0	0
PXK	54899	broad.mit.edu	37	3	58383343	58383343	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58383343T>C	uc003djz.1	+	10	1095	c.996T>C	c.(994-996)agT>agC	p.S332S	PXK_uc003djx.1_Silent_p.S332S|PXK_uc003dka.1_Silent_p.S332S|PXK_uc003dkb.1_Silent_p.S249S|PXK_uc003dkc.1_Silent_p.S315S|PXK_uc011bfe.1_Silent_p.S299S|PXK_uc010hnj.1_Silent_p.S299S|PXK_uc003dkd.1_Silent_p.S195S|PXK_uc010hnk.1_Silent_p.S106S	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	332	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CATTGGAAAGTGTGGATGTCC	0.542000														296			73		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93399081	93399081	+	Missense_Mutation	SNP	G	A	A	rs9658669		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93399081G>A	uc001ybc.4	+	6	1435	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q	CHGA_uc001ybd.4_Missense_Mutation_p.R241Q	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	392					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGCTGCGACGAGGCTGGAGG	0.697000														32			11		0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25470535	25470535	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25470535G>A	uc002wux.1	-	11	1646	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	NINL_uc010gdn.1_Silent_p.D524D|NINL_uc010gdo.1_Silent_p.D307D	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	524					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CAAACTCCAGGTCCTTCTGCA	0.597000														208			44		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137814819	137814819	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137814819G>A	uc003qhp.1	-	0	713	c.489C>T	c.(487-489)acC>acT	p.T163T		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		AGTGGCCCACGGTCCCGCAGT	0.667000														110			16		0	0	1	0	0
GDPD3	79153	broad.mit.edu	37	16	30116209	30116209	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30116209G>T	uc002dwp.3	-	9	1020	c.941C>A	c.(940-942)gCt>gAt	p.A314D	BOLA2_uc010bzb.1_Intron|AK097453_uc002dwo.2_Non-coding_Transcript|GDPD3_uc002dwq.3_Missense_Mutation_p.A252D	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	314					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GGTCCGGGCAGCTGGTCCATG	0.532000														90			29		8.16721e-17	9.7615e-17	1	1	0
SLC45A4	57210	broad.mit.edu	37	8	142228381	142228381	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228381C>T	uc003ywd.1	-	3	1513	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	SLC45A4_uc003ywc.1_Missense_Mutation_p.R402H|SLC45A4_uc010meq.1_Missense_Mutation_p.R400H	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	453					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GCTCATGCTGCGCGACGGCTT	0.677000														197			9		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1394480	1394480	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1394480G>A	uc002clk.2	+	17	1876	c.1718G>A	c.(1717-1719)cGt>cAt	p.R573H	BAIAP3_uc010uuz.2_Missense_Mutation_p.R538H|BAIAP3_uc010uva.2_Missense_Mutation_p.R510H|BAIAP3_uc021tag.1_Missense_Mutation_p.R515H|BAIAP3_uc002clj.3_Missense_Mutation_p.R555H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R502H	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	573					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	p.N572N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				AGAGGCAACCGTGAGTGGTAC	0.612000														224			60		0	0	1	0	0
OSGIN2	734	broad.mit.edu	37	8	90921949	90921949	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:90921949G>T	uc003yeh.3	+	2	459	c.199_splice	c.e2+1	p.G67_splice	OSGIN2_uc003yeg.3_Splice_Site_p.G23_splice	NM_001126111	NP_004328	Q9Y236	OSGI2_HUMAN	Homo sapiens oxidative stress induced growth inhibitor family member 2 (OSGIN2), transcript variant 1, mRNA.	23					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GGTAATAATAGGTAAGTTATT	0.299000														34			4		0.00024832	0.000256435	1	1	0
ZNF425	155054	broad.mit.edu	37	7	148801589	148801589	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801589G>A	uc003wfj.3	-	3	1507	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.R458R(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTGGTGGGCGCGCATGGCGT	0.662000														165			27		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33663516	33663516	+	Missense_Mutation	SNP	C	T	T	rs138851075		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33663516C>T	uc021ywr.1	+	57	8199	c.7975C>T	c.(7975-7977)Cgc>Tgc	p.R2659C	MNF1_uc003oez.1_Non-coding_Transcript	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2659					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACGCAGGCAACGCCTAGGCTT	0.602000														220			48		0	0	1	0	0
SP2	6668	broad.mit.edu	37	17	46002805	46002805	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46002805C>T	uc002imk.3	+	5	1776	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	SP2_uc002iml.3_Missense_Mutation_p.R540C	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	547					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						TGCCCATGTGCGCCTGCACAC	0.592000														340			74		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3910849	3910849	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3910849C>T	uc010xhz.2	+	8	1329	c.846C>T	c.(844-846)ttC>ttT	p.F282F	ATCAY_uc002lyy.4_Silent_p.F276F|ATCAY_uc010dts.3_Silent_p.F33F			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	276	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CCTCGTGGTTCATTCGGACTG	0.602000														156			34		0	0	1	0	0
ZNF490	57474	broad.mit.edu	37	19	12692016	12692016	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12692016C>A	uc002mtz.2	-	4	1002	c.873G>T	c.(871-873)caG>caT	p.Q291H		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTAGAAAAGGCTGGTAATATA	0.428000														95			23		8.04996e-18	9.68579e-18	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356255	66356255	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356255G>A	uc003hcy.3	-	4	1435	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	EPHA5_uc003hcx.3_Silent_p.Y345Y|EPHA5_uc003hcz.3_Silent_p.Y414Y|EPHA5_uc011cah.2_Silent_p.Y414Y|EPHA5_uc011cai.2_Silent_p.Y414Y|EPHA5_uc003hda.2_Silent_p.Y414Y	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	414	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GCCGGGGAAGGTACCTGACAT	0.493000										TSP Lung(17;0.13)				102			23		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	117024714	117024714	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117024714G>T	uc001lcg.3	+	10	2118	c.1732G>T	c.(1732-1734)Gat>Tat	p.D578Y		NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	578						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TCTTCATAGAGATGTCAACAG	0.313000														91			22		2.89027e-11	3.28353e-11	1	1	0
BAHCC1	57597	broad.mit.edu	37	17	79409669	79409669	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79409669G>A	uc002kaf.2	+	3	1108	c.1108G>A	c.(1108-1110)Gac>Aac	p.D370N	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	432							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CATGGCCCCCGACCACGCTGC	0.726000														38			7		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155490772	155490772	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490772C>A	uc003ioa.4	+	6	1104	c.1065C>A	c.(1063-1065)caC>caA	p.H355Q	FGB_uc010ipv.3_Missense_Mutation_p.H296Q	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	355	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAAAGGCTCACTATGGAGGAT	0.438000														120			21		1.2644e-06	1.3491e-06	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38888777	38888777	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38888777A>G	uc021wvy.1	-	25	4983	c.4784T>C	c.(4783-4785)gTt>gCt	p.V1595A		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1595					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CATGTTGACAACAATGAGAAA	0.393000														136			27		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700546	136700546	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700546C>A	uc003vtf.1	+	3	1557	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	CHRM2_uc003vtg.1_Missense_Mutation_p.L312M|CHRM2_uc003vti.1_Missense_Mutation_p.L312M|CHRM2_uc003vtm.1_Missense_Mutation_p.L312M|CHRM2_uc003vtj.1_Missense_Mutation_p.L312M|CHRM2_uc003vtk.1_Missense_Mutation_p.L312M|CHRM2_uc003vtl.1_Missense_Mutation_p.L312M|CHRM2_uc003vtn.1_Missense_Mutation_p.L312M|CHRM2_uc003vto.1_Missense_Mutation_p.L312M|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.L312M	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	312					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.S311F(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCCACTTCCCTGGGCCATTC	0.463000														120			28		4.22769e-11	4.79992e-11	1	1	0
TYW1	55253	broad.mit.edu	37	7	66489989	66489989	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66489989G>A	uc003tvn.3	+	6	1113	c.964G>A	c.(964-966)Gat>Aat	p.D322N	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	322					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAAAATTATGGATCATGTGAA	0.408000														134			25		0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55623887	55623887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55623887G>A	uc003pcq.3	-	5	1843	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	BMP5_uc011dxf.2_Intron	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	377					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAAATGCAGCGTATCCTTCTG	0.343000														121			23		0	0	1	0	0
MTHFD2L	441024	broad.mit.edu	37	4	75147231	75147231	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75147231G>A	uc011cbk.2	+	6	922	c.895G>A	c.(895-897)Gga>Aga	p.G299R	MTHFD2L_uc003hhu.3_Non-coding_Transcript|BC016361_uc003hhv.1_Intron	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	241					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TCCAGTGACAGGAAAGACAAA	0.348000														85			17		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56585789	56585789	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56585789T>C	uc010xeg.2	+	2	467	c.270T>C	c.(268-270)caT>caC	p.H90H	ZNF532_uc002lhp.3_Silent_p.H88H|ZNF532_uc002lho.3_Silent_p.H90H|ZNF532_uc002lhr.3_Silent_p.H88H|ZNF532_uc002lhs.3_Silent_p.H88H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						ATGGCTTACATAATGGGTTTC	0.502000														74			19		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777943	39777943	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777943C>A	uc002hxh.2	-	3	857	c.736G>T	c.(736-738)Ggc>Tgc	p.G246C	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	246	Linker 12.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGGTCCACGCCTGGGGCAGCG	0.567000														198			9		0.000274275	0.000282808	1	1	0
PARVB	29780	broad.mit.edu	37	22	44559756	44559756	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44559756G>A	uc003bem.3	+	12	1193	c.1063G>A	c.(1063-1065)Gcc>Acc	p.A355T	PARVB_uc003ben.3_Missense_Mutation_p.A322T|PARVB_uc010gzn.3_Missense_Mutation_p.A247T|PARVB_uc003beo.3_Missense_Mutation_p.A285T	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	322	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding	p.A355T(2)		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)				TGTGTCCTTCGCCTTTGAGCT	0.627000														165			17		0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56772420	56772420	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56772420G>A	uc002iwu.3	+	1	316	c.274G>A	c.(274-276)Gag>Aag	p.E92K	RAD51C_uc002iwt.1_Missense_Mutation_p.E92K|RAD51C_uc010woa.1_Missense_Mutation_p.E92K|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript|RAD51C_uc010wob.1_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	92					DNA repair|blood coagulation	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAACTTCTTGAGCAGGAGCA	0.418000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2					96			14		0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123374	81123374	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81123374G>T	uc010ijo.3	+	7	1597	c.758G>T	c.(757-759)aGc>aTc	p.S253I	PRDM8_uc003hmb.4_Missense_Mutation_p.S253I|PRDM8_uc003hmc.4_Missense_Mutation_p.S253I	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	253	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCCGGCGGCAGCAGCGCGAAG	0.672000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			22		1.55469e-16	1.85573e-16	1	1	0
LMAN2	10960	broad.mit.edu	37	5	176764242	176764242	+	Missense_Mutation	SNP	C	T	T	rs142614645		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176764242C>T	uc003mge.3	-	5	922	c.685G>A	c.(685-687)Gac>Aac	p.D229N		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	229	L-type lectin-like.				protein transport	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTCCAGGTCGGTCATCACC	0.662000														142			22		0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111622994	111622994	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111622994G>A	uc001plw.1	-	9	1311	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	PPP2R1B_uc010rwi.1_Silent_p.I345I|PPP2R1B_uc001plx.1_Silent_p.I409I|PPP2R1B_uc010rwk.1_Silent_p.I364I|PPP2R1B_uc010rwl.1_Silent_p.I282I|PPP2R1B_uc010rwj.1_Silent_p.I248I	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	409							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AGAGCTGACGGATTCCAATCA	0.473000														151			35		0	0	1	0	0
FAM181B	220382	broad.mit.edu	37	11	82444612	82444612	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444612C>T	uc001ozp.3	-	0	295	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	54										large_intestine(1)|lung(2)|prostate(1)	4						CCTCCTTCGGCTCCCGACAGC	0.682000														51			5		0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53645099	53645099	+	Nonsense_Mutation	SNP	G	A	A	rs146144984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53645099G>A	uc002qbc.2	-	4	1412	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ZNF347_uc002qbb.2_Nonsense_Mutation_p.R328*|ZNF347_uc010eql.2_Nonsense_Mutation_p.R329*	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTCGACTAAAGACC	0.398000														161			33		0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5244425	5244425	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5244425C>T	uc002mbv.3	-	10	1291	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	PTPRS_uc002mbu.1_Missense_Mutation_p.D340N|PTPRS_uc010xin.2_Missense_Mutation_p.D340N|PTPRS_uc002mbw.3_Missense_Mutation_p.D340N|PTPRS_uc002mbx.3_Missense_Mutation_p.D344N|PTPRS_uc002mby.3_Missense_Mutation_p.D340N	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	353	Fibronectin type-III 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGCCCGAGTCCCACGTGATG	0.552000														110			27		0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33016050	33016050	+	Missense_Mutation	SNP	G	A	A	rs139751571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:33016050G>A	uc001wrq.3	+	3	2361	c.2191G>A	c.(2191-2193)Gct>Act	p.A731T	AKAP6_uc010aml.3_Missense_Mutation_p.A728T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	731					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.A731T(2)		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)		TATGCCTCTCGCTGGCATGAA	0.448000														114			11		0	0	1	0	0
CYP2F1	1572	broad.mit.edu	37	19	41626311	41626311	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41626311C>A	uc002opu.1	+	3	450	c.394C>A	c.(394-396)Cta>Ata	p.L132I	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.L132I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	132					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TATCCAGATTCTACGGAATTT	0.547000														200			49		9.58827e-17	1.14549e-16	1	1	0
FBN1	2200	broad.mit.edu	37	15	48779598	48779598	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779598C>T	uc001zwx.2	-	27	3769	c.3374G>A	c.(3373-3375)cGa>cAa	p.R1125Q		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1125	EGF-like 17; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AACACCACCTCGGCATAGGAG	0.522000														182			49		0	0	1	0	0
CCNG2	901	broad.mit.edu	37	4	78082647	78082647	+	Missense_Mutation	SNP	G	A	A	rs34067647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78082647G>A	uc003hkq.4	+	4	845	c.542G>A	c.(541-543)aGc>aAc	p.S181N	CCNG2_uc003hkn.4_Missense_Mutation_p.S181N|CCNG2_uc011ccc.1_Missense_Mutation_p.S181N|CCNG2_uc003hkp.4_Missense_Mutation_p.S181N	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	181					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GAAATACTGAGCCTTGATAAA	0.333000														60			18		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21494442	21494442	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21494442C>T	uc002kuq.3	+	56	7484	c.7398C>T	c.(7396-7398)gaC>gaT	p.D2466D	LAMA3_uc002kur.3_Silent_p.D2410D|LAMA3_uc002kus.4_Silent_p.D857D|LAMA3_uc002kut.4_Silent_p.D801D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2466	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTGGGGGACCGTGAGGCTG	0.537000														101			23		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28841994	28841994	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28841994C>T	uc002dqy.3	+	8	1260	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Nonsense_Mutation_p.R365*|ATXN2L_uc002dqz.3_Nonsense_Mutation_p.R365*|ATXN2L_uc002dra.3_Nonsense_Mutation_p.R365*|ATXN2L_uc002drb.3_Nonsense_Mutation_p.R365*|ATXN2L_uc002drc.3_Nonsense_Mutation_p.R365*|ATXN2L_uc010vdb.2_Nonsense_Mutation_p.R365*|ATXN2L_uc002dre.3_Nonsense_Mutation_p.R365*|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	365						membrane		p.R365*(3)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGAGGAGTTCGATGCAGCAG	0.612000														109			24		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817897	200817897	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817897C>A	uc001gvl.3	+	11	2303	c.2033C>A	c.(2032-2034)aCt>aAt	p.T678N	CAMSAP2_uc001gvk.3_Missense_Mutation_p.T667N|CAMSAP2_uc001gvm.3_Missense_Mutation_p.T651N	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	678						cytoplasm|microtubule	protein binding										TGTCCAAGTACTGTAAGTACC	0.423000														96			40		2.54651e-27	3.18929e-27	1	1	0
RNF25	64320	broad.mit.edu	37	2	219528785	219528785	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219528785G>T	uc002vit.3	-	9	1363	c.1275C>A	c.(1273-1275)ggC>ggA	p.G425G	RNF25_uc010fvw.3_Silent_p.G313G	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN	Homo sapiens ring finger protein 25 (RNF25), mRNA.	425					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGGTGTCCGGCCTTTAGAGC	0.652000														354			145		1.7381e-60	2.2207e-60	1	1	0
DNAH1	25981	broad.mit.edu	37	3	52383039	52383039	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52383039G>A	uc011bef.2	+	12	2503	c.2242G>A	c.(2242-2244)Gcc>Acc	p.A748T	DNAH1_uc003ddt.1_Missense_Mutation_p.A748T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	748	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGGCCTACGCCAAGGAGTA	0.582000														129			29		0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242695421	242695421	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242695421G>A	uc002wce.1	+	8	1471	c.1298G>A	c.(1297-1299)gGc>gAc	p.G433D	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.G299D|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.G132D	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	433					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GTGGGCTATGGCCACCTTGGT	0.701000														200			45		0	0	1	0	0
KCTD18	130535	broad.mit.edu	37	2	201355148	201355148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355148C>T	uc002uvs.3	-	6	1473	c.956G>A	c.(955-957)cGc>cAc	p.R319H	KCTD18_uc002uvt.3_Missense_Mutation_p.R319H	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	319						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCCTTTCTGCGGCTACCACT	0.632000														127			50		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64084844	64084844	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64084844G>A	uc003dmf.3	-	7	3004	c.2418C>T	c.(2416-2418)agC>agT	p.S806S		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	806						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCAGCTCATCGCTTGTGACGT	0.537000														153			29		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415304	210415304	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415304C>A	uc001hhy.3	+	3	872	c.693C>A	c.(691-693)tcC>tcA	p.S231S	SERTAD4_uc009xcw.3_Silent_p.S231S	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	231	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		cttcctcttcctctccccctT	0.488000														135			43		1.32136e-16	1.5779e-16	1	1	0
ACACB	32	broad.mit.edu	37	12	109637282	109637282	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637282G>A	uc001tob.3	+	17	2822	c.2703G>A	c.(2701-2703)tcG>tcA	p.S901S	ACACB_uc001toc.3_Silent_p.S901S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	901	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GATCCCCCTCGGCTGGGAAGC	0.582000														166			35		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528081	61528081	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61528081G>A	uc002ydr.2	-	6	2168	c.1856C>T	c.(1855-1857)gCa>gTa	p.A619V	DIDO1_uc002yds.2_Missense_Mutation_p.A619V|DIDO1_uc002ydt.2_Missense_Mutation_p.A619V|DIDO1_uc002ydu.2_Missense_Mutation_p.A619V	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	619					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTGCCGCTGCAGGTGCCGG	0.642000														233			47		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6864159	6864159	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6864159A>G	uc003gjr.4	+	6	2513	c.2050A>G	c.(2050-2052)Aca>Gca	p.T684A	KIAA0232_uc003gjq.4_Missense_Mutation_p.T684A	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	684							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						GCTTGGGAAAACACAGTCTAG	0.348000														55			13		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178609	62178609	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178609G>T	uc002yfi.1	-	0	249	c.208C>A	c.(208-210)Ctg>Atg	p.L70M		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	70	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGGACACTCAGCTCCCCGCCA	0.697000														36			10		6.40141e-05	6.6609e-05	1	1	0
CCNA1	8900	broad.mit.edu	37	13	37014291	37014291	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37014291G>A	uc001uvr.4	+	5	1419	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	CCNA1_uc010teo.2_Missense_Mutation_p.V313M|CCNA1_uc010abq.3_Missense_Mutation_p.V313M|CCNA1_uc010abp.3_Missense_Mutation_p.V313M|CCNA1_uc001uvs.4_Missense_Mutation_p.V356M|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	357					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		GCGACAAGGAGTGTGCGTCAG	0.458000														168			30		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513208	106513208	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513208C>T	uc003vdv.4	+	3	2197	c.2112C>T	c.(2110-2112)gcC>gcT	p.A704A	PIK3CG_uc003vdu.3_Silent_p.A704A|PIK3CG_uc003vdw.3_Silent_p.A704A	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	704					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGAGATAGCCCAGTCCAGAC	0.448000														117			24		0	0	1	0	0
HOXD4	3233	broad.mit.edu	37	2	177016490	177016490	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:177016490C>T	uc002uks.3	+	0	378	c.129C>T	c.(127-129)ggC>ggT	p.G43G		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCGCGCAGGGCGCAGACTTCC	0.716000														107			25		0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39971218	39971218	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39971218G>T	uc002olu.1	+	0	167	c.34G>T	c.(34-36)Gat>Tat	p.D12Y	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	0					mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	RNA binding|interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAATAAGTGTGATCCCTTCCT	0.557000														153			30		1.80694e-10	2.03462e-10	1	1	0
DAAM1	23002	broad.mit.edu	37	14	59835462	59835462	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59835462G>T	uc001xdz.1	+	25	3247	c.3122G>T	c.(3121-3123)cGc>cTc	p.R1041L	DAAM1_uc001xea.1_Missense_Mutation_p.R1031L|DAAM1_uc001xec.1_Non-coding_Transcript	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	1041	DAD.				actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TCAGCTTTACGCTCAGGAGAA	0.413000														63			13		9.05144e-12	1.03561e-11	1	1	0
PARP8	79668	broad.mit.edu	37	5	50091153	50091153	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:50091153C>T	uc003jon.4	+	12	1512	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	PARP8_uc011cpz.2_Missense_Mutation_p.L336F|PARP8_uc003joo.3_Missense_Mutation_p.L444F|PARP8_uc003jop.3_Missense_Mutation_p.L444F	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	444						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAAACTGAGCTTTTCAAGGA	0.438000														135			25		0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114282577	114282577	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114282577C>A	uc003vhb.3	+	6	1262	c.888C>A	c.(886-888)tcC>tcA	p.S296S	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.S321S|FOXP2_uc003vha.3_Silent_p.S204S|FOXP2_uc011kmv.2_Silent_p.S295S|FOXP2_uc011kmu.2_Silent_p.S313S|FOXP2_uc010ljz.2_Silent_p.S204S|FOXP2_uc003vgx.2_Silent_p.S296S|FOXP2_uc003vhc.3_Silent_p.S321S|FOXP2_uc003vhd.3_Silent_p.S296S	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	296				DLTTNNSSSTTSSNT -> EEFPVQGPAAVCAGL (in Ref. 10; AAB91439).	camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CTAACAATTCCTCCTCGACTA	0.443000														121			19		3.32936e-07	3.57961e-07	1	1	0
PYGL	5836	broad.mit.edu	37	14	51378995	51378995	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378995G>A	uc001wyu.3	-	13	1774	c.1647C>T	c.(1645-1647)ttC>ttT	p.F549F	PYGL_uc010tqq.2_Silent_p.F515F	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	549					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	CCGTCTCCAGGAACTGAGAAA	0.448000														246			46		0	0	1	0	0
C16orf78	123970	broad.mit.edu	37	16	49433071	49433071	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49433071G>A	uc002efr.3	+	4	723	c.680G>A	c.(679-681)cGg>cAg	p.R227Q		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	227								p.R227W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAGAACATTCGGACCTTGCTC	0.448000														110			24		0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138750	126138750	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:126138750G>T	uc001uhe.1	+	8	2739	c.2731G>T	c.(2731-2733)Gcc>Tcc	p.A911S	TMEM132B_uc001uhf.1_Missense_Mutation_p.A423S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	911						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CTTCTGTCTGGCCATTCTGGT	0.527000														168			26		1.66031e-10	1.87009e-10	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73161482	73161482	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73161482C>A	uc003hgk.2	-	18	2649	c.2612G>T	c.(2611-2613)gGa>gTa	p.G871V		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	871	TSP type-1 2.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCTACGGCATCCATATTTAGT	0.363000														100			20		8.28177e-16	9.83302e-16	1	1	0
TRAK2	66008	broad.mit.edu	37	2	202257678	202257678	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202257678G>T	uc002uyb.4	-	9	1513	c.1067C>A	c.(1066-1068)cCt>cAt	p.P356H		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	356				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						ATGAGCAGTAGGGCCAGATCT	0.368000														35			10		2.17888e-05	2.28139e-05	1	1	0
CXCR4	7852	broad.mit.edu	37	2	136872944	136872944	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872944A>C	uc002tuz.3	-	1	649	c.554T>G	c.(553-555)aTc>aGc	p.I185S	CXCR4_uc002tuy.3_Missense_Mutation_p.I189S|CXCR4_uc010fnk.3_Missense_Mutation_p.I170S	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	185					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.D185N(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	GCGGTCACAGATATATCTGTC	0.512000														170			9		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64637136	64637136	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64637136C>T	uc001xgl.3	+	93	17421	c.17191C>T	c.(17191-17193)Cgc>Tgc	p.R5731C	SYNE2_uc001xgm.3_Missense_Mutation_p.R5731C|SYNE2_uc010apy.3_Missense_Mutation_p.R2116C|SYNE2_uc001xgn.3_Missense_Mutation_p.R693C|SYNE2_uc021rui.1_Intron|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_Missense_Mutation_p.R96C	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5731					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGGCCAGGAGCGCTTCAGCCT	0.512000														55			12		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401620	77401620	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77401620A>C	uc002ffc.4	-	4	915	c.496_splice	c.e4-1	p.S166_splice	ADAMTS18_uc002ffe.1_Splice_Site|ADAMTS18_uc010vni.1_Splice_Site	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	166					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATTAAACCTGACTAAAAAGCC	0.468000														114			38		0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60861650	60861650	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60861650C>T	uc002yck.1	+	10	1210	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	OSBPL2_uc002ycl.1_Silent_p.S324S|OSBPL2_uc011aah.1_Silent_p.S244S	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	336					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATGAAGACTCCGGGAAGGCTG	0.627000														343			83		0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100232703	100232703	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100232703G>A	uc003hus.4	-	6	1023	c.939C>T	c.(937-939)cgC>cgT	p.R313R	ADH1B_uc003hut.4_Silent_p.R273R|ADH1B_uc011ceh.2_Silent_p.R158R|ADH1B_uc011cei.1_Silent_p.R273R	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	313					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.R313H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCTTCCAGGTGCGTCCAGTCA	0.438000														225			57		0	0	1	0	0
LBR	3930	broad.mit.edu	37	1	225591097	225591097	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:225591097G>A	uc001hoy.3	-	13	1930	c.1756C>T	c.(1756-1758)Cgt>Tgt	p.R586C	LBR_uc001hoz.3_Missense_Mutation_p.R586C	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	586					cholesterol biosynthetic process	integral to nuclear inner membrane	DNA binding|chromo shadow domain binding|delta14-sterol reductase activity|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TACTCGTCACGAGCTTCTCGG	0.403000														93			41		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13830889	13830889	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13830889G>A	uc010gcf.3	-	18	1977	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_uc002woq.4_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.2_Missense_Mutation_p.A519V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458000														102			19		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9032472	9032472	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9032472G>A	uc003brf.1	-	20	3286	c.2610C>T	c.(2608-2610)ggC>ggT	p.G870G	SRGAP3_uc003brg.1_Silent_p.G846G	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	870					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)		TGTGTGTGTCGCCCCCGCTTC	0.701000			T	RAF1	pilocytic astrocytoma									34			7		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119253000	119253000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119253000C>T	uc003ica.2	-	3	889	c.842G>A	c.(841-843)cGc>cAc	p.R281H		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	281	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TCCAGCAAGGCGAATGATGGG	0.458000														129			20		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52617718	52617718	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52617718T>C	uc003pay.3	-	4	498	c.348A>G	c.(346-348)gaA>gaG	p.E116E		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	116	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TGGCATCTTGTTCCTCAGGTT	0.398000														329			15		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39826503	39826503	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39826503C>A	uc021olw.1	+	11	7603	c.7603C>A	c.(7603-7605)Ctg>Atg	p.L2535M	MACF1_uc021ols.1_Missense_Mutation_p.L2033M|MACF1_uc001cdc.2_Missense_Mutation_p.L2033M|MACF1_uc021olt.1_Missense_Mutation_p.L2033M|MACF1_uc001cda.1_Missense_Mutation_p.L1941M|MACF1_uc001cdb.1_Missense_Mutation_p.L1120M	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4100					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	p.S2534I(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTCCTATAGCCTGGCTGAGCG	0.448000														64			5		0.00116845	0.00119477	1	1	0
ASAH1	427	broad.mit.edu	37	8	17917112	17917112	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17917112G>A	uc003wyn.2	-	10	1131	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ASAH1_uc003wyl.2_Nonsense_Mutation_p.R296*|ASAH1_uc003wym.2_Nonsense_Mutation_p.R271*|ASAH1_uc003wyo.2_Nonsense_Mutation_p.R290*	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	296					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTTCTGTCTCGTGTAATCACA	0.388000														146			26		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71183521	71183521	+	Missense_Mutation	SNP	G	A	A	rs141650373		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183521G>A	uc001oqn.3	+	5	560	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	145	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTGCCTCGGATGATACAG	0.547000														80			13		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957919	12957919	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957919G>A	uc003wwm.2	-	8	2371	c.1927C>T	c.(1927-1929)Ccc>Tcc	p.P643S	DLC1_uc003wwk.1_Missense_Mutation_p.P206S|DLC1_uc003wwl.1_Missense_Mutation_p.P240S|DLC1_uc011kxx.1_Missense_Mutation_p.P132S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	643					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTTCCTTGGGAGAGGGCAGG	0.572000														285			45		0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101631	58101631	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58101631G>A	uc002qpg.3	+	3	549	c.452G>A	c.(451-453)aGa>aAa	p.R151K	ZIK1_uc002qph.3_Missense_Mutation_p.R96K|ZIK1_uc002qpi.3_Missense_Mutation_p.R138K|ZIK1_uc002qpj.3_Missense_Mutation_p.R48K	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN	Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GACATGGACAGAGCCTCATAT	0.493000														109			18		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31641142	31641142	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31641142A>G	uc001wrc.1	-	7	1746	c.1257T>C	c.(1255-1257)ggT>ggC	p.G419G		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	419					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TAACATCTGCACCTCTCTCAC	0.303000														48			12		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65862593	65862593	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862593G>A	uc002jgf.3	+	2	1511	c.1450G>A	c.(1450-1452)Gaa>Aaa	p.E484K	BPTF_uc002jge.3_Missense_Mutation_p.E484K|BPTF_uc010wqm.1_Missense_Mutation_p.E484K	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	484					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAAGATACAGAAAATGAAAA	0.333000														113			31		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077332	57077332	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57077332C>T	uc001njr.3	-	4	3165	c.2853G>A	c.(2851-2853)gaG>gaA	p.E951E	TNKS1BP1_uc001njs.3_Silent_p.E951E|TNKS1BP1_uc009ymd.1_Silent_p.E402E	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	951	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TCTTCCCAAACTCCTGTTCCT	0.592000														295			53		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320449	79320449	+	Silent	SNP	G	A	A	rs41288769		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320449G>A	uc010mpk.3	-	7	6865	c.6741C>T	c.(6739-6741)gaC>gaT	p.D2247D	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Silent_p.D2069D	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2247					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCCAAGAACCGTCACCTTCTG	0.448000														61			15		0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100930371	100930371	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100930371G>T	uc001tht.2	+	4	872	c.844G>T	c.(844-846)Gaa>Taa	p.E282*	NR1H4_uc001thq.2_Nonsense_Mutation_p.E272*|NR1H4_uc001thp.2_Nonsense_Mutation_p.E268*|NR1H4_uc001thr.2_Nonsense_Mutation_p.E272*|NR1H4_uc010svk.2_Nonsense_Mutation_p.E221*|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Nonsense_Mutation_p.E278*	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	282	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.E282Q(1)|p.E268K(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GATGCCTCAGGAAATAACAAA	0.303000														54			11		4.68919e-08	5.11014e-08	1	1	0
LAIR2	3904	broad.mit.edu	37	19	55019358	55019358	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55019358G>A	uc002qgc.3	+	2	445	c.323G>A	c.(322-324)gGa>gAa	p.G108E	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.G108E|LAIR2_uc010erl.3_Intron	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	108	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		AAGCCCCCTGGATGGTCTGAG	0.547000														195			53		0	0	1	0	0
LYG2	254773	broad.mit.edu	37	2	99858877	99858877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99858877C>T	uc002szw.1	-	5	702	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MRPL30_uc002szl.1_Intron|LYG2_uc010fip.1_3'UTR	NM_175735	NP_783862	Q86SG7	LYG2_HUMAN	Homo sapiens lysozyme G-like 2 (LYG2), mRNA.	197					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	p.F196F(1)		large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATATCATTGACGAAGTCATTG	0.463000														194			36		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896614	77896614	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896614G>T	uc002lnw.3	+	3	3773	c.3318G>T	c.(3316-3318)aaG>aaT	p.K1106N		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1106					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAATCACAAGCCTTCTGTAC	0.303000														53			14		4.36969e-10	4.89342e-10	1	1	0
TMPRSS3	64699	broad.mit.edu	37	21	43815520	43815520	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43815520C>T	uc002zbb.2	-	1	208	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	TMPRSS3_uc002zbc.2_Missense_Mutation_p.E3K|TMPRSS3_uc002zbd.3_Missense_Mutation_p.E3K	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	3					cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGATCATTTTCCCCCATGGTG	0.493000														55			8		0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61988202	61988202	+	Silent	SNP	G	T	T	rs112072490	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61988202G>T	uc002jda.1	-	1	155	c.93C>A	c.(91-93)ccC>ccA	p.P31P	CSHL1_uc002jcz.1_Silent_p.P31P|CSHL1_uc002jdb.1_Intron|CSHL1_uc002jdc.1_Intron|CSHL1_uc002jdd.1_Intron|CSHL1_uc021ubn.1_5'UTR	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	31						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						GCCTGGATAAGGGAACGGTTT	0.587000														204			36		2.42023e-17	2.90129e-17	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48314629	48314629	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48314629A>G	uc003toq.2	+	16	5390	c.5366A>G	c.(5365-5367)gAa>gGa	p.E1789G	ABCA13_uc010kyr.2_Missense_Mutation_p.E1292G|ABCA13_uc022acp.1_Missense_Mutation_p.E288G	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1789					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAAGGAAGACTTCGCA	0.388000														53			16		0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10746125	10746125	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10746125C>T	uc002mpf.3	+	13	1306	c.1167C>T	c.(1165-1167)aaC>aaT	p.N389N	SLC44A2_uc002mpe.4_Silent_p.N387N|SLC44A2_uc002mpg.1_Silent_p.N109N|SLC44A2_uc002mph.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	389					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity	p.N389S(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CCACTTCCAACGAAGCGGTCT	0.552000														259			50		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692063	49692063	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49692063G>A	uc003cxe.4	+	4	5188	c.5074G>A	c.(5074-5076)Gaa>Aaa	p.E1692K		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1692					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTGCTGTGGAAGCGAGGAA	0.587000														180			44		0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170632528	170632528	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170632528C>T	uc003mba.3	+	20	2285	c.2143_splice	c.e20-1	p.R715_splice	RANBP17_uc003mbb.3_Splice_Site_p.R40_splice|RANBP17_uc003mbd.3_Splice_Site_p.R78_splice|RANBP17_uc010jjs.3_Splice_Site|RANBP17_uc003mbc.3_Splice_Site_p.R78_splice	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	715					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.R715S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACTGACAGCGTATGTTGAT	0.428000			T	TRD@	ALL									76			15		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33633694	33633694	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33633694G>T	uc021ywr.1	+	13	1716	c.1492G>T	c.(1492-1494)Gtc>Ttc	p.V498F		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	498					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GGACATCATGGTCACTAAGCC	0.592000														55			8		0.0381472	0.038366	1	1	0
MLL	4297	broad.mit.edu	37	11	118374332	118374332	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118374332A>G	uc001pta.3	+	26	7739	c.7716A>G	c.(7714-7716)caA>caG	p.Q2572Q	MLL_uc001ptb.3_Silent_p.Q2575Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2572					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGTGGCCCAACCAAGCCCCA	0.458000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									97			24		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067822	9067822	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9067822T>C	uc002mkp.3	-	2	19828	c.19624A>G	c.(19624-19626)Act>Gct	p.T6542A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6544	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						GGGAGTGAAGTCAGATGAACA	0.507000														59			11		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82267698	82267698	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82267698A>G	uc004ald.3	+	6	1409	c.560A>G	c.(559-561)gAt>gGt	p.D187G	TLE4_uc004alc.3_Missense_Mutation_p.D194G|TLE4_uc010mpr.3_Missense_Mutation_p.D73G|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.D162G|TLE4_uc010mps.3_Missense_Mutation_p.D187G|TLE4_uc004alf.3_Missense_Mutation_p.D133G	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0								p.D186E(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATGACAATGATCACCAAAGA	0.483000														126			35		0	0	1	0	0
CNBP	7555	broad.mit.edu	37	3	128890615	128890615	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890615C>A	uc021xdu.1	-	1	1	c.-13_splice	c.e1-1		CNBP_uc021xdt.1_Splice_Site|CNBP_uc003elr.4_Splice_Site|CNBP_uc003elq.4_Splice_Site|CNBP_uc021xdv.1_Splice_Site|CNBP_uc021xdw.1_Splice_Site|CNBP_uc011bku.2_Splice_Site	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.						cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GCAGTCAGATCTTTGAAATAT	0.413000														73			8		0.0477658	0.0480153	1	1	0
MAPK15	225689	broad.mit.edu	37	8	144800977	144800977	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144800977G>A	uc003yzj.3	+	4	360	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	107	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCGGAAGGGCGGCCTGCTGCA	0.682000														62			11		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658693	88658693	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88658693C>T	uc001xwm.3	-	4	865	c.743G>A	c.(742-744)gGc>gAc	p.G248D	KCNK10_uc001xwn.3_Missense_Mutation_p.G248D|KCNK10_uc001xwo.3_Missense_Mutation_p.G243D	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	243					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CACAATGCAGCCGGCCAAGAT	0.507000														173			28		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27493855	27493855	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27493855C>A	uc002hdt.1	-	1	262	c.104G>T	c.(103-105)aGc>aTc	p.S35I	MYO18A_uc010csa.1_Missense_Mutation_p.S35I|MYO18A_uc002hdu.1_Missense_Mutation_p.S35I	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	35					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCTCCAGGCTCCGAAGCTC	0.537000														24			4		0.000602214	0.000618135	1	1	0
ASXL3	80816	broad.mit.edu	37	18	31324318	31324318	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31324318C>T	uc010dmg.1	+	11	4561	c.4506C>T	c.(4504-4506)ggC>ggT	p.G1502G	ASXL3_uc002kxq.2_Silent_p.G1209G	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCTGCAGGGCAGACCAGTGA	0.552000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			16		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145573905	145573905	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:145573905A>G	uc003ijs.2	+	1	1108	c.428A>G	c.(427-429)gAc>gGc	p.D143G	HHIP_uc003ijr.2_Missense_Mutation_p.D143G	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	143						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CTCTGCAAAGACTATTGCAAA	0.393000														128			12		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18054484	18054484	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18054484G>A	uc021trm.1	+	37	7753	c.7534G>A	c.(7534-7536)Gtg>Atg	p.V2512M	MYO15A_uc021trl.1_Missense_Mutation_p.V2510M|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2512	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCCAAACCCGTGCTCCTGCG	0.647000														435			18		0	0	1	0	0
CSDE1	7812	broad.mit.edu	37	1	115269646	115269646	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115269646G>A	uc001efi.3	-	13	2082	c.1560C>T	c.(1558-1560)gcC>gcT	p.A520A	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Silent_p.A474A|CSDE1_uc001efm.3_Silent_p.A489A|CSDE1_uc009wgv.3_Silent_p.A474A|CSDE1_uc001efl.3_Silent_p.A443A|CSDE1_uc001efn.3_Silent_p.A443A	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	474	CSD 7.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CCACATCCTTGGCTTGAAAAG	0.388000														71			12		0	0	1	0	0
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114956247	114956247	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114956247A>C	uc003kre.3	-	1	710	c.323T>G	c.(322-324)tTt>tGt	p.F108C	TMED7-TICAM2_uc003krd.3_Missense_Mutation_p.F108C|TMED7-TICAM2_uc011cwd.2_Missense_Mutation_p.F20C|TMED7-TICAM2_uc003krf.3_Missense_Mutation_p.F108C	NM_001164468	NP_001157940	Q86XR7	TCAM2_HUMAN	Homo sapiens TMED7-TICAM2 readthrough (TMED7-TICAM2), transcript variant 1, mRNA.	0	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity										GCTGAAGCAAAATTTGTATGT	0.353000														85			21		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73814473	73814473	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814473C>A	uc001ouu.2	-	13	2510	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	761						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCACCAAGTTCTGTGCTTTCT	0.438000														117			22		7.45023e-12	8.53574e-12	1	1	0
TMEM57	55219	broad.mit.edu	37	1	25815742	25815742	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25815742G>A	uc001bkk.3	+	8	1777	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	TMEM57_uc009vru.3_Silent_p.K298K|TMEM57_uc009vrv.3_Silent_p.K167K	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	525						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACATGAAGGTGAAAGAAG	0.423000														39			16		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44497024	44497024	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44497024C>T	uc003cnf.2	-	2	366	c.18G>A	c.(16-18)tgG>tgA	p.W6*	ZNF445_uc011azv.1_Nonsense_Mutation_p.W6*|ZNF445_uc011azw.1_Nonsense_Mutation_p.W6*|ZNF445_uc021wwo.1_Nonsense_Mutation_p.W6*	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	6					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)		AGGCAGCATGCCACCTGCCTG	0.547000														102			22		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793138	53793138	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53793138C>A	uc002qbk.3	-	0	1738	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	164					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TGATTCAATTCATTTTCTGTA	0.418000														112			21		7.45023e-12	8.53574e-12	1	1	0
ProSAPiP1	9762	broad.mit.edu	37	20	3146582	3146582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3146582C>T	uc002wia.1	-	1	2282	c.884G>A	c.(883-885)gGc>gAc	p.G295D	ProSAPiP1_uc002wib.1_Missense_Mutation_p.G295D	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	295						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCCAGGTGGCCTGGCCGCCC	0.706000														118			20		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128496609	128496609	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496609C>T	uc003vnz.4	+	43	7498	c.7289C>T	c.(7288-7290)gCc>gTc	p.A2430V	FLNC_uc003voa.4_Missense_Mutation_p.A2397V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2430	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGTCCTTTGCCGTGCAGCTG	0.647000														195			39		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540695	187540695	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540695C>A	uc003izf.3	-	9	7233	c.7045G>T	c.(7045-7047)Gat>Tat	p.D2349Y		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2349	Cadherin 21.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTCGTAATCCAGGGTTCTG	0.498000										HNSCC(5;0.00058)				218			20		1.50039e-11	1.71053e-11	1	1	0
TIAM2	26230	broad.mit.edu	37	6	155572061	155572061	+	Silent	SNP	G	A	A	rs145496334		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155572061G>A	uc003qqb.3	+	23	5239	c.3966G>A	c.(3964-3966)tcG>tcA	p.S1322S	TIAM2_uc003qqe.3_Silent_p.S1322S|TIAM2_uc010kjj.3_Silent_p.S884S|TIAM2_uc003qqf.3_Silent_p.S698S|TIAM2_uc011efl.1_Silent_p.S658S|TIAM2_uc003qqg.3_Silent_p.S634S|TIAM2_uc003qqh.3_Silent_p.S247S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1322					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAGAACTTTCGATGGGAGAGC	0.418000														151			28		0	0	1	0	0
LOC283683	283683	broad.mit.edu	37	15	23108758	23108758	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23108758G>A	uc001yvf.2	-	2		c.370C>T								Homo sapiens uncharacterized LOC283683 (LOC283683), non-coding RNA.																		TTACCTGGTTGCTTGACCCAC	0.393000														28			5		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863883	6863883	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6863883G>A	uc003gjr.4	+	6	2237	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	KIAA0232_uc003gjq.4_Missense_Mutation_p.E592K	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	592							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCAGTTTTGGGAGTGCTGTTC	0.522000														160			36		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8551214	8551214	+	Silent	SNP	C	T	T	rs143994714		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8551214C>T	uc010dwe.3	+	13	1982	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	HNRNPM_uc010xke.1_Silent_p.F580F|HNRNPM_uc010dwd.3_Silent_p.F595F|HNRNPM_uc002mka.3_Silent_p.F499F|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	634					alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGGAAGCTTCGCAGGTTCCT	0.602000														162			16		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45188796	45188796	+	Silent	SNP	C	T	T	rs141947019		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45188796C>T	uc002xsf.2	-	12	1714	c.1674G>A	c.(1672-1674)ctG>ctA	p.L558L	SLC13A3_uc010ghn.2_Silent_p.L527L|SLC13A3_uc010zxx.2_Silent_p.L460L|SLC13A3_uc010zxw.2_Silent_p.L508L|SLC13A3_uc002xsg.2_Silent_p.L511L|SLC13A3_uc010gho.2_Silent_p.L476L|SLC13A3_uc002xse.2_Silent_p.L49L|SLC13A3_uc010ghm.2_Silent_p.L145L|SLC13A3_uc010zxv.2_Silent_p.L143L	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	558						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CCAAACTGAGCAGCAGGACAC	0.557000														209			32		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76909559	76909559	+	Silent	SNP	C	T	T	rs56174006		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76909559C>T	uc001oyb.2	+	33	4733	c.4461C>T	c.(4459-4461)aaC>aaT	p.N1487N	MYO7A_uc010rsm.1_Silent_p.N1476N|MYO7A_uc001oyc.2_Silent_p.N1487N|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.N698N	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1487	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCCCAAGAACGACGTCATCG	0.607000														80			17		0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26582721	26582721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26582721G>T	uc001mqw.3	-	4	1250	c.977C>A	c.(976-978)tCt>tAt	p.S326Y	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.S299Y|MUC15_uc001mqy.3_Missense_Mutation_p.S276Y	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	299						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGTAGCTAGAATTCCCAAA	0.383000														51			21		3.51602e-12	4.04451e-12	1	1	0
SET	6418	broad.mit.edu	37	9	131455036	131455036	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131455036A>C	uc004bvt.4	+	3	650	c.409A>C	c.(409-411)Ata>Cta	p.I137L	SET_uc022bol.1_Missense_Mutation_p.I115L|SET_uc004bvu.4_Missense_Mutation_p.I124L|SET_uc011mbj.2_Missense_Mutation_p.I113L	NM_001122821	NP_001116293	Q01105	SET_HUMAN	Homo sapiens SET nuclear oncogene (SET), transcript variant 1, mRNA.	137					DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		AGGTTACAGAATAGATTTTGT	0.363000			T	NUP214	AML									61			8		0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134123498	134123498	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134123498C>T	uc001qhk.3	+	0	65	c.4C>T	c.(4-6)Ctg>Ttg	p.L2L	THYN1_uc001qhf.3_5'Flank|THYN1_uc001qhg.3_5'Flank|THYN1_uc001qhh.3_5'Flank|THYN1_uc001qhi.3_5'Flank|THYN1_uc001qhj.3_5'Flank|THYN1_uc009zdb.3_5'Flank|ACAD8_uc009zdc.3_5'UTR|ACAD8_uc010sco.1_5'UTR|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_5'UTR|ACAD8_uc001qhl.3_Silent_p.L2L|ACAD8_uc010scr.1_5'Flank	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	2					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		GGCGGCTATGCTGTGGAGCGG	0.706000														16			3		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5456838	5456838	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5456838A>C	uc002gci.3	-	4	2951	c.2396T>G	c.(2395-2397)aTt>aGt	p.I799S	NLRP1_uc002gcg.1_Missense_Mutation_p.I799S|NLRP1_uc002gch.4_Missense_Mutation_p.I799S|NLRP1_uc002gck.3_Missense_Mutation_p.I799S|NLRP1_uc002gcj.3_Missense_Mutation_p.I799S|NLRP1_uc002gcl.3_Missense_Mutation_p.I799S|NLRP1_uc010clh.3_Missense_Mutation_p.I799S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	799					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGAGAAGAGAATCTGCCAATA	0.542000														93			23		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189129	131189129	+	Missense_Mutation	SNP	C	T	T	rs139425581	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189129C>T	uc003vqw.4	-	8	1876	c.1618G>A	c.(1618-1620)Gtc>Atc	p.V540I	PODXL_uc003vqx.4_Missense_Mutation_p.V508I	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	540					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TCCAGAGGGACGATCCAGCTG	0.582000														130			28		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26110096	26110096	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26110096C>T	uc002gzu.3	-	5	768	c.504G>A	c.(502-504)gcG>gcA	p.A168A	NOS2_uc010crh.1_Silent_p.A168A|NOS2_uc010wab.1_Silent_p.A168A	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	168					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CCTTTGTTACCGCTTCCACCC	0.517000														135			23		0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75408231	75408231	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75408231C>A	uc001jut.4	-	3	1331	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	SYNPO2L_uc001jus.4_Missense_Mutation_p.Q169H	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	393						cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCGCTGCTGTTCAAAGA	0.667000														190			43		1.30916e-28	1.64407e-28	1	1	0
ASB2	51676	broad.mit.edu	37	14	94417571	94417571	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94417571C>T	uc001ycd.3	-	5	1024	c.654G>A	c.(652-654)gcG>gcA	p.A218A	ASB2_uc001ycc.2_Silent_p.A170A|ASB2_uc001yce.1_Silent_p.A116A	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	170					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TCACGGCCTCCGCGTTCTTGC	0.622000														123			26		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22624371	22624371	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22624371T>G	uc010sit.2	-	20	2554	c.2326A>C	c.(2326-2328)Aat>Cat	p.N776H	KIAA0528_uc010sir.2_Missense_Mutation_p.N589H|KIAA0528_uc010sis.2_Missense_Mutation_p.N774H|KIAA0528_uc001rfq.3_Missense_Mutation_p.N774H|KIAA0528_uc010siu.2_Missense_Mutation_p.N774H|KIAA0528_uc001rfr.3_Missense_Mutation_p.N765H	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	774							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTGTAAAATTTACATGGCAA	0.284000														70			20		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18135840	18135840	+	Silent	SNP	C	T	T	rs139741665	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18135840C>T	uc002gsp.3	+	2	272	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	71					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GTTCACAGGCCTGCACCGGGA	0.587000														80			16		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356347	42356347	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356347G>A	uc001wvm.3	+	2	1717	c.519G>A	c.(517-519)ttG>ttA	p.L173L	LRFN5_uc010ana.3_Silent_p.L173L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	173						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGGTTAGCTTGCATACCCTTA	0.413000										HNSCC(30;0.082)				71			13		0	0	1	0	0
STIL	6491	broad.mit.edu	37	1	47759187	47759187	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47759187C>A	uc001crd.1	-	7	970	c.815G>T	c.(814-816)aGt>aTt	p.S272I	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S225I|STIL_uc010omo.1_Missense_Mutation_p.S272I|STIL_uc001crc.1_Missense_Mutation_p.S272I|STIL_uc001cre.1_Missense_Mutation_p.S272I|STIL_uc001crg.1_Missense_Mutation_p.S225I	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	272					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TACCTGAGGACTATAGATATG	0.318000														100			27		3.65163e-15	4.31534e-15	1	1	0
ZIC1	7545	broad.mit.edu	37	3	147128517	147128517	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147128517G>A	uc003ewe.3	+	0	1337	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	206					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACATGGCCGCGCATCACGGCG	0.652000														107			29		0	0	1	0	0
PIP5KL1	138429	broad.mit.edu	37	9	130687515	130687515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130687515C>T	uc011mao.2	-	8	833	c.788G>A	c.(787-789)cGc>cAc	p.R263H	PIP5KL1_uc004bsu.3_Missense_Mutation_p.R60H	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	263	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						TTCCATCTGGCGGAGGAACCA	0.637000														89			19		0	0	1	0	0
CKMT1A	548596	broad.mit.edu	37	15	43990318	43990318	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43990318T>C	uc001zsn.3	+	7	1375	c.983T>C	c.(982-984)gTg>gCg	p.V328A	CKMT1A_uc010uea.2_Missense_Mutation_p.V359A	NM_001015001	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1A (CKMT1A), nuclear gene encoding mitochondrial protein, mRNA.	328	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CGGGCAGGAGTGCACATCAAA	0.532000														159			36		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78546358	78546358	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78546358G>A	uc001dik.3	+	2	431	c.241_splice	c.e2-1	p.I81_splice		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	81						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						TTTCTTTGCAGATCTTATATT	0.318000														79			8		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134037948	134037948	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134037948A>C	uc001qhd.1	-	26	4122	c.3516T>G	c.(3514-3516)gaT>gaG	p.D1172E	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	1172					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	p.D1172H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGCCATGTCATCTTCTTCCA	0.453000														210			36		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	1968799	1968799	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1968799G>A	uc002fub.1	-	16	4065	c.4010C>T	c.(4009-4011)tCc>tTc	p.S1337F	SMG6_uc010vqv.1_Missense_Mutation_p.S429F|SMG6_uc002fud.2_Missense_Mutation_p.S1306F	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1337	PINc.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	p.E1336K(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGGCGATGGATTCGAGTTC	0.597000														61			17		0	0	1	0	0
HEMK1	51409	broad.mit.edu	37	3	50608542	50608542	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50608542C>A	uc003dau.3	+	1	303	c.7C>A	c.(7-9)Ctt>Att	p.L3I	C3orf18_uc003dat.3_5'Flank|HEMK1_uc003dav.3_Missense_Mutation_p.L3I	NM_016173	NP_057257	Q9Y5R4	HEMK1_HUMAN	Homo sapiens HemK methyltransferase family member 1 (HEMK1), mRNA.	3					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		AGACATGGAGCTTTGGGGCCG	0.612000														135			11		0.000978159	0.0010017	1	1	0
MYO5B	4645	broad.mit.edu	37	18	47390710	47390710	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47390710T>C	uc002leb.2	-	27	3932	c.3644A>G	c.(3643-3645)gAc>gGc	p.D1215G	MYO5B_uc002lea.2_Missense_Mutation_p.D356G	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1215					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CTCATTCAGGTCATTCTTCAG	0.572000														351			69		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658364	111658364	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658364C>A	uc010hqa.3	+	6	2584	c.2173C>A	c.(2173-2175)Ctg>Atg	p.L725M	PHLDB2_uc003dyc.3_Missense_Mutation_p.L709M|PHLDB2_uc003dyd.3_Missense_Mutation_p.L682M|PHLDB2_uc003dyg.3_Missense_Mutation_p.L725M|PHLDB2_uc003dyh.3_Missense_Mutation_p.L682M|PHLDB2_uc003dyi.3_Missense_Mutation_p.L311M	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	725						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTTTGAAGACCTGGAGTTCCA	0.428000														115			18		1.56452e-12	1.80666e-12	1	1	0
GALNT2	2590	broad.mit.edu	37	1	230415072	230415072	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230415072C>T	uc010pwa.1	+	15	1656	c.1584C>T	c.(1582-1584)aaC>aaT	p.N528N	GALNT2_uc010pvy.1_Silent_p.N490N|GALNT2_uc001htu.2_Silent_p.N140N	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	528	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TCGAGGGCAACTCCAAGCTGA	0.587000														97			37		0	0	1	0	0
ST6GALNAC3	256435	broad.mit.edu	37	1	76779638	76779638	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:76779638G>A	uc001dhh.2	+	1	330	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	ST6GALNAC3_uc001dhg.4_Missense_Mutation_p.R56Q|ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity	p.R55S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						ACATACAGGCGGCCCCTTCGA	0.443000														114			8		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9002321	9002321	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9002321T>C	uc001quz.4	+	16	2183	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	A2ML1_uc001qva.1_Silent_p.S275S|A2ML1_uc010sgm.2_Silent_p.S195S	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	539						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TAGATTGCAGTCACAGATCTC	0.473000														91			21		0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825055	4825055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4825055C>T	uc021qcs.1	-	0	556	c.556G>A	c.(556-558)Gct>Act	p.A186T		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCAGCACAGCCATGTGCTCA	0.522000														190			36		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037224	75037224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75037224C>A	uc001dgg.3	-	13	4389	c.4170G>T	c.(4168-4170)caG>caT	p.Q1390H		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1390	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTAACTCATCCTGTTGGTGCC	0.517000														198			46		1.97e-11	2.2445e-11	1	1	0
HTT	3064	broad.mit.edu	37	4	3142376	3142376	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3142376A>C	uc021xkv.1	+	21	3083	c.2938A>C	c.(2938-2940)Ata>Cta	p.I980L		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	980					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CGTCAGCACAATAACCAGGTA	0.443000														81			15		0	0	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25469575	25469575	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25469575G>A	uc002rgc.3	-	9	1450	c.1193C>T	c.(1192-1194)gCc>gTc	p.A398V	DNMT3A_uc002rgd.3_Missense_Mutation_p.A398V|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.A209V	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	398	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCCACGGCCTTGGCAGT	0.642000			"""Mis, F, N, S"""		AML									333			22		0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50209130	50209130	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50209130C>A	uc001zxu.3	-	20	2283	c.2141_splice	c.e20+1	p.R714_splice	ATP8B4_uc010ber.3_Splice_Site_p.R587_splice|ATP8B4_uc010ufd.2_Splice_Site_p.R524_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	714					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		tcAACACCTACCTGAGTTCTT	0.453000														87			23		5.45024e-15	6.43213e-15	1	1	0
MAP3K15	389840	broad.mit.edu	37	X	19379653	19379653	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19379653G>A	uc022btq.1	-	26	3738	c.3738C>T	c.(3736-3738)gaC>gaT	p.D1246D	MAP3K15_uc004czj.2_Silent_p.D681D|MAP3K15_uc004czk.2_Silent_p.D721D|PDHA1_uc004czh.4_3'UTR|PDHA1_uc011mjc.2_3'UTR|PDHA1_uc004czg.4_3'UTR|PDHA1_uc011mjd.2_3'UTR|PDHA1_uc010nfl.3_3'UTR|MAP3K15_uc004czi.2_Silent_p.D180D	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1246							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCGCAACCAGTCTATAAGCT	0.403000														164			26		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49735349	49735349	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49735349G>A	uc003cxh.3	+	5	460	c.374G>A	c.(373-375)cGc>cAc	p.R125H	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	125	B30.2/SPRY.					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)		GGCACCATCCGCTCTACCACA	0.552000														466			107		0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246499	164246499	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:164246499C>T	uc003iqm.2	-	2	1576	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.A128T	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	371					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TTTTTAAATGCGACTGGGCTT	0.383000														154			21		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53237304	53237304	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53237304C>T	uc001cuj.3	+	2	1004	c.809C>T	c.(808-810)tCt>tTt	p.S270F	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.S261F	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	270							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						AACCTTGTTTCTCTGGATGTT	0.393000														91			21		0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201469468	201469468	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201469468G>T	uc002uvx.3	+	8	820	c.719G>T	c.(718-720)aGa>aTa	p.R240I		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	240	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.R240R(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GGCAGTGAGAGAATGATGTGG	0.468000														160			29		5.45727e-16	6.48868e-16	1	1	0
RREB1	6239	broad.mit.edu	37	6	7230407	7230407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7230407C>T	uc003mxb.3	+	9	2567	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M	RREB1_uc021yky.1_Missense_Mutation_p.T692M|RREB1_uc003mxc.3_Missense_Mutation_p.T692M|RREB1_uc010jnx.3_Missense_Mutation_p.T692M|RREB1_uc021ykz.1_Missense_Mutation_p.T692M|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	692					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.R691H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACCTGCGCACGCACAGTGGG	0.637000														151			24		0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338557	13338557	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13338557A>G	uc003gms.3	+	0		c.3521A>G								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						AAGCCCAATGATGATGGCATG	0.493000														99			26		0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22067082	22067082	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22067082C>T	uc003xbg.3	+	18	2966	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	BMP1_uc011kzc.2_Silent_p.Y649Y|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	900	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGAAGGCTACGGCGTGGAGC	0.592000														350			79		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20279025	20279025	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20279025C>T	uc002wru.3	+	24	3531	c.3417C>T	c.(3415-3417)ctC>ctT	p.L1139L	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1139										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TCACAGATCTCTATAGGTGAG	0.463000														48			10		0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134244527	134244527	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134244527G>A	uc001qhp.3	+	17	1927	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	580					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TTCATCAATGGCCAGAACCTT	0.547000														249			45		0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27262629	27262629	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27262629C>A	uc002ria.4	+	13	1656	c.1546C>A	c.(1546-1548)Ctt>Att	p.L516I	TMEM214_uc002rib.4_Missense_Mutation_p.L471I	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	516						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TGGCCGGTTGCTTCGATCATC	0.597000														166			58		7.50695e-29	9.43174e-29	1	1	0
ITGB3BP	23421	broad.mit.edu	37	1	63955760	63955760	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63955760A>G	uc001dbb.2	-	3	435	c.295T>C	c.(295-297)Tca>Cca	p.S99P	ITGB3BP_uc001dbc.2_Non-coding_Transcript|ITGB3BP_uc001dba.2_Missense_Mutation_p.S60P|ITGB3BP_uc009wak.1_Missense_Mutation_p.S82P	NM_001206739	NP_001193668	Q13352	CENPR_HUMAN	Homo sapiens integrin beta 3 binding protein (beta3-endonexin) (ITGB3BP), transcript variant 1, mRNA.	60					CenH3-containing nucleosome assembly at centromere|apoptosis|cell adhesion|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TAACCATTTGATAGTCCATTT	0.328000														51			7		0	0	1	0	0
LEMD2	221496	broad.mit.edu	37	6	33752178	33752178	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33752178G>A	uc011drm.2	-	2	817	c.804C>T	c.(802-804)gcC>gcT	p.A268A	LEMD2_uc011drl.2_5'UTR	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	268						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						GCTCCAGCAAGGCTGCCTTCT	0.552000														121			38		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12262855	12262855	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12262855C>T	uc002kqt.4	+	1	135	c.70C>T	c.(70-72)Cga>Tga	p.R24*	CIDEA_uc002kqu.4_Nonsense_Mutation_p.R58*|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	24					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACAGACTAAGCGAGTCCTGTT	0.502000														183			35		0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107535879	107535879	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107535879C>T	uc010rvs.2	+	11	1365	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	ELMOD1_uc001pjm.3_Silent_p.L313L|ELMOD1_uc010rvt.2_Silent_p.L315L	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	321					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGACATGGCGCTGTGCCCACA	0.478000														199			46		0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55194081	55194081	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55194081T>C	uc001cxv.3	+	5	822	c.690T>C	c.(688-690)aaT>aaC	p.N230N	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Silent_p.N219N			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	219							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGAATCAGAATGAGGCTTTAC	0.408000														30			8		0	0	1	0	0
C19orf29	58509	broad.mit.edu	37	19	3624041	3624041	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3624041C>T	uc002lyh.3	-	1	340	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	C19orf29_uc002lyi.4_Missense_Mutation_p.R96Q|C19orf29_uc010dto.3_Non-coding_Transcript	NM_001080543	NP_067054	Q8WUQ7	CS029_HUMAN	Homo sapiens chromosome 19 open reading frame 29 (C19orf29), transcript variant 1, mRNA.	96						catalytic step 2 spliceosome	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(2)	15		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTGGCCCCGTGACTGCTC	0.711000														133			31		0	0	1	0	0
SIN3A	25942	broad.mit.edu	37	15	75684652	75684652	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75684652G>A	uc002bai.3	-	14	3041	c.2782C>T	c.(2782-2784)Cgg>Tgg	p.R928W	SIN3A_uc002baj.3_Missense_Mutation_p.R928W|SIN3A_uc010uml.2_Missense_Mutation_p.R928W	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	928					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AGCACTTCCCGTTCCCATTCT	0.502000														226			43		0	0	1	0	0
AR	367	broad.mit.edu	37	X	66937403	66937403	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:66937403C>T	uc004dwu.2	+	4	3372	c.2257C>T	c.(2257-2259)Cga>Tga	p.R753*	AR_uc022byk.1_Intron|AR_uc004dwv.2_Nonsense_Mutation_p.R221*	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	752	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CATGGGCTGGCGATCCTTCAC	0.532000									Androgen Insensitivity Syndrome					55			23		0	0	1	0	0
FGD1	2245	broad.mit.edu	37	X	54473856	54473856	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54473856A>G	uc004dtg.3	-	16	3202	c.2468T>C	c.(2467-2469)gTc>gCc	p.V823A		NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	823	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|nucleus|plasma membrane|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGCAGATGACGCTGTTCTC	0.532000														36			14		0	0	1	0	0
ZFP64	55734	broad.mit.edu	37	20	50701282	50701282	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50701282G>T	uc002xwk.3	-	8	2101	c.1752C>A	c.(1750-1752)acC>acA	p.T584T	ZFP64_uc002xwj.3_Silent_p.T365T	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						AGGCGCCGCAGGTCTCACAGC	0.602000														126			19		1.67942e-08	1.84125e-08	1	1	0
HEXDC	284004	broad.mit.edu	37	17	80391663	80391663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80391663C>T	uc002kev.4	+	4	828	c.412C>T	c.(412-414)Cca>Tca	p.P138S	HEXDC_uc002kew.3_Missense_Mutation_p.P138S|HEXDC_uc010wvm.2_Non-coding_Transcript	NM_173620	NP_775891	Q8WVB3	HEXDC_HUMAN	Homo sapiens hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing (HEXDC), mRNA.	138					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GGAGCTACACCCAGGCGCCCA	0.627000														132			18		0	0	1	0	0
CCDC116	164592	broad.mit.edu	37	22	21988516	21988516	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21988516C>T	uc002zve.3	+	2	371	c.278C>T	c.(277-279)gCg>gTg	p.A93V	CCDC116_uc011aih.1_Missense_Mutation_p.A93V	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	93								p.A93V(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GTGGAGAAGGCGACTGAGCGC	0.622000														199			38		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249281	123249281	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123249281A>G	uc003ieh.3	+	63	11063	c.11018A>G	c.(11017-11019)gAc>gGc	p.D3673G	KIAA1109_uc003iem.3_Missense_Mutation_p.D64G	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3673					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						ACAGAACTGGACCTTTTGTCA	0.318000														59			8		0	0	1	0	0
ZNF263	10127	broad.mit.edu	37	16	3338556	3338556	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3338556G>T	uc002cuq.3	+	4	1204	c.872G>T	c.(871-873)aGa>aTa	p.R291I	ZNF263_uc010uww.2_Intron|ZNF263_uc002cur.2_5'Flank	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CTGAGCCCCAGAGGCCCAGCT	0.547000														83			14		1.3612e-06	1.45125e-06	1	1	0
ANO2	57101	broad.mit.edu	37	12	5841705	5841705	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5841705G>A	uc001qnm.2	-	14	1598	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	514						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACACTCCGTCGTGTTTGTTTC	0.458000														46			6		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101481366	101481366	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101481366T>A	uc003dvk.1	+	9	1882	c.1855T>A	c.(1855-1857)Ttt>Att	p.F619I	CEP97_uc011bhf.1_Missense_Mutation_p.F560I|CEP97_uc003dvl.1_Missense_Mutation_p.F315I|CEP97_uc003dvm.1_Missense_Mutation_p.F457I	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	619	CEP110 binding.					centrosome|nucleus	protein binding	p.F619I(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TATTAAAAAATTTGTACAAGA	0.333000														57			15		0	0	1	0	0
IFI27L1	122509	broad.mit.edu	37	14	94568225	94568225	+	Missense_Mutation	SNP	G	A	A	rs148533447		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94568225G>A	uc001ycl.3	+	3	335	c.127G>A	c.(127-129)Gca>Aca	p.A43T	IFI27L1_uc001yck.3_Missense_Mutation_p.A43T	NM_206949	NP_996832	Q96BM0	I27L1_HUMAN	Homo sapiens interferon, alpha-inducible protein 27-like 1 (IFI27L1), transcript variant 2, mRNA.	43						integral to membrane				lung(2)	2						AGGAATCGCCGCATCCTCCAT	0.597000														103			30		0	0	1	0	0
GPR124	25960	broad.mit.edu	37	8	37687516	37687516	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37687516G>T	uc003xkj.3	+	5	1088	c.702G>T	c.(700-702)gaG>gaT	p.E234D	GPR124_uc010lvy.3_Missense_Mutation_p.E234D	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	234	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GCCTCCAGGAGGCCCAGCTCT	0.667000														19			7		2.0095e-06	2.13635e-06	1	1	0
CAMSAP2	23271	broad.mit.edu	37	1	200824013	200824013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200824013C>T	uc001gvl.3	+	14	4195	c.3925C>T	c.(3925-3927)Cca>Tca	p.P1309S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.P1298S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.P1282S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1309						cytoplasm|microtubule	protein binding										CAAGAGGACGCCAAGGTAAAT	0.343000														39			11		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2279622	2279622	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2279622G>A	uc002cpm.3	+	2	409	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	E4F1_uc010bsi.3_Missense_Mutation_p.V121M|E4F1_uc010bsj.3_Missense_Mutation_p.V121M	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	121					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.V121L(1)		ovary(1)	1						GGCCCACATCGTGGTGGAGGC	0.592000														329			103		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449713	91449713	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449713C>T	uc001tbl.3	-	1	965	c.346G>A	c.(346-348)Gcc>Acc	p.A116T		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	116					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TGGCTTAGGGCTCCTTTTTCA	0.383000														126			27		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375803	175375803	+	Silent	SNP	G	A	A	rs142523357	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175375803G>A	uc001gkp.1	-	0	129	c.48C>T	c.(46-48)ggC>ggT	p.G16G	TNR_uc009wwu.1_Silent_p.G16G|TNR_uc010pmz.1_Silent_p.G16G	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	16					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TCAGGTTGATGCCAATGAGCA	0.557000														284			26		0	0	1	0	0
PGP	283871	broad.mit.edu	37	16	2264203	2264203	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2264203G>A	uc002cpk.1	-	0	620	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	192					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CGAGCAGGCAGCCGGGCTGCT	0.706000														47			8		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519553	53519553	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519553A>G	uc003pcb.4	-	1	659	c.518T>C	c.(517-519)aTg>aCg	p.M173T		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	173	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AACAACATACATGCAATTCTC	0.368000														104			24		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901392	51901392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51901392C>T	uc002iua.2	+	0	1154	c.998C>T	c.(997-999)gCa>gTa	p.A333V	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	333	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GCTCTGGTGGCACAGGATGTC	0.478000														171			27		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100453987	100453987	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100453987C>A	uc002taf.3	-	7	1093	c.949_splice	c.e7-1	p.E317_splice	AFF3_uc002tag.3_Splice_Site_p.E292_splice|AFF3_uc010fiq.1_Splice_Site_p.E292_splice|AFF3_uc010yvr.1_Splice_Site_p.E446_splice|AFF3_uc002tah.1_Splice_Site_p.E317_splice|AFF3_uc010fir.1_Splice_Site_p.E369_splice	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	292					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ATCTACTCTCCTGAAAGCAAA	0.368000														82			7		0.0381472	0.038366	1	1	0
FGFR1OP	11116	broad.mit.edu	37	6	167416734	167416734	+	Splice_Site	SNP	C	T	T	rs146065090	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167416734C>T	uc003qvj.3	+	3	296	c.211_splice	c.e3+1	p.G71_splice	CCR6_uc003qvl.3_5'UTR|FGFR1OP_uc011egp.1_Splice_Site_p.G71_splice|FGFR1OP_uc003qvk.3_Splice_Site_p.G71_splice	NM_007045	NP_008976	O95684	FR1OP_HUMAN	Homo sapiens FGFR1 oncogene partner (FGFR1OP), transcript variant 1, mRNA.	71	LisH.				G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation	centrosome|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity			large_intestine(2)|ovary(1)|stomach(1)	4		Breast(66;1.48e-05)|Ovarian(120;0.0607)		OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231)		ATACCAAAGACGGTAAGATGT	0.294000			T	FGFR1	"""MPD, NHL"""									34			3		0	0	1	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18767552	18767552	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18767552C>A	uc010exr.3	-	2	338	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.D136Y|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.D76Y|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.D136Y|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.D119Y|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.D153Y|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.D136Y|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.D76Y|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	136					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										CTAGGCTCATCTATGGATGGA	0.448000														129			47		1.0096e-33	1.27598e-33	1	1	0
MYO9A	4649	broad.mit.edu	37	15	72119059	72119059	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119059C>A	uc002atl.4	-	41	7982	c.7509G>T	c.(7507-7509)aaG>aaT	p.K2503N	MYO9A_uc002atk.3_Missense_Mutation_p.K1298N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2503	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTTTCACATTCTTTAATTTTT	0.488000														200			42		1.61572e-30	2.03552e-30	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40384075	40384075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40384075C>T	uc002omp.4	-	20	9543	c.9535G>A	c.(9535-9537)Gta>Ata	p.V3179I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3179	TIL 7.					extracellular region	protein binding	p.A3178V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCTCACATACGGCTGGCGTC	0.652000														391			40		0	0	1	0	0
FATE1	89885	broad.mit.edu	37	X	150889958	150889958	+	Missense_Mutation	SNP	G	A	A	rs138889158	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:150889958G>A	uc004fex.3	+	2	410	c.326G>A	c.(325-327)cGt>cAt	p.R109H		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	109						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGCATACGTTTCCATTAT	0.592000														92			27		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168806814	168806814	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168806814G>T	uc011bpj.1	-	15	3962	c.3559C>A	c.(3559-3561)Ccg>Acg	p.P1187T	MECOM_uc010hwk.1_Missense_Mutation_p.P1013T|MECOM_uc003ffj.3_Missense_Mutation_p.P1064T|MECOM_uc003ffi.3_Missense_Mutation_p.P999T|MECOM_uc011bpi.1_Missense_Mutation_p.P991T|MECOM_uc003ffn.3_Missense_Mutation_p.P999T|MECOM_uc003ffk.2_Missense_Mutation_p.P990T|MECOM_uc003ffl.2_Missense_Mutation_p.P1150T|MECOM_uc011bpk.1_Missense_Mutation_p.P999T	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTGTGTAACGGCTGCTTAAGT	0.388000														113			14		0.00316338	0.00321995	1	1	0
LAPTM5	7805	broad.mit.edu	37	1	31230535	31230535	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31230535C>T	uc001bsc.2	-	0	149	c.58G>A	c.(58-60)Gca>Aca	p.A20T		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	20					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGTGGTTGCGATGCGGACA	0.627000														60			11		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704369	41704369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41704369C>T	uc002opw.3	+	3	551	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	166					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCCCCCAGGACGCCCATTCGA	0.627000														311			48		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1011428	1011428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1011428C>T	uc002lqr.1	-	8	1301	c.1155G>A	c.(1153-1155)tgG>tgA	p.W385*	FLJ00277_uc002lqp.1_5'Flank|C19orf6_uc021ume.1_5'Flank|C19orf6_uc002lqs.1_Nonsense_Mutation_p.W385*	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	385						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTCCGCGAGCCACACGATGA	0.647000														11			3		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2815936	2815936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2815936C>T	uc002crk.3	+	10	5956	c.5407C>T	c.(5407-5409)Cgg>Tgg	p.R1803W	SRRM2_uc002crj.1_Missense_Mutation_p.R1707W|SRRM2_uc002crl.1_Missense_Mutation_p.R1803W|SRRM2_uc010bsu.1_Missense_Mutation_p.R1707W	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1803	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGAAGACAGCGGAGCCGGTC	0.602000														97			19		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20841685	20841685	+	Missense_Mutation	SNP	C	T	T	rs146330073		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20841685C>T	uc001vxe.3	-	45	6702	c.6662G>A	c.(6661-6663)cGg>cAg	p.R2221Q	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.R1564Q|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R2113Q|TEP1_uc010tlh.1_Missense_Mutation_p.R559Q	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2221					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATGCCATAACCGTGTGGCCCC	0.557000														79			18		0	0	1	0	0
REXO2	25996	broad.mit.edu	37	11	114310303	114310303	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114310303A>G	uc001poy.3	+	0	196	c.53A>G	c.(52-54)cAc>cGc	p.H18R	REXO2_uc001poz.3_Missense_Mutation_p.H18R	NM_015523	NP_056338	Q9Y3B8	ORN_HUMAN	Homo sapiens REX2, RNA exonuclease 2 homolog (S. cerevisiae) (REXO2), nuclear gene encoding mitochondrial protein, mRNA.	18					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		GGTGGGAGTCACGGACGGTTC	0.711000											OREG0021351	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		57			7		0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189722	58189722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58189722G>A	uc002qpu.3	+	4	1448	c.751G>A	c.(751-753)Gct>Act	p.A251T		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	251					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCTAGTCACTGCTAGATCTCA	0.493000														105			22		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13068922	13068922	+	Missense_Mutation	SNP	G	A	A	rs142781329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13068922G>A	uc010xac.2	+	24	4974	c.4894G>A	c.(4894-4896)Gtt>Att	p.V1632I	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.V1157I|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_Missense_Mutation_p.V54I	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1227										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCTACGCCCGTTCTTAGAAG	0.473000														137			46		0	0	1	0	0
CCDC132	55610	broad.mit.edu	37	7	92963455	92963455	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92963455T>C	uc003umo.3	+	21	2132	c.2004T>C	c.(2002-2004)agT>agC	p.S668S	CCDC132_uc003ump.3_Silent_p.S638S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.S388S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	668										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCGGCCTTAGTAGTAGTAGAC	0.313000														135			37		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37537005	37537005	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37537005G>T	uc002yvg.3	+	2	54	c.-25_splice	c.e2-1		DOPEY2_uc011aeb.2_5'Flank	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.						Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTTGCTTTTAGATACTTTTCT	0.393000														48			6		0.00116845	0.00119477	1	1	0
RUNX3	864	broad.mit.edu	37	1	25229078	25229078	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25229078G>A	uc009vrj.3	-	6	1071	c.825C>T	c.(823-825)agC>agT	p.S275S	RUNX3_uc001bjq.3_Silent_p.S261S|RUNX3_uc010oen.2_Silent_p.S208S|RUNX3_uc001bjr.3_Silent_p.S275S|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	261	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CTGGGAAGCGGCTCTCCGTGA	0.657000														306			33		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24456585	24456585	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24456585G>A	uc002zzi.1	+	11	1725	c.1598G>A	c.(1597-1599)tGc>tAc	p.C533Y	CABIN1_uc021wnc.1_Missense_Mutation_p.C483Y|CABIN1_uc002zzj.1_Missense_Mutation_p.C483Y|CABIN1_uc002zzl.2_Missense_Mutation_p.C533Y	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	533					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAGGGACTGCAGCAACAAG	0.622000														76			17		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157462	155157462	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157462T>G	uc003inw.2	-	24	6977	c.6977A>C	c.(6976-6978)aAt>aCt	p.N2326T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2326	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AATAGGCAGATTTTCTGGAAC	0.393000														132			31		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79743884	79743884	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79743884G>T	uc003kgr.4	+	7	3066	c.2764G>T	c.(2764-2766)Gaa>Taa	p.E922*	ZFYVE16_uc003kgp.3_Nonsense_Mutation_p.E922*|ZFYVE16_uc003kgq.4_Nonsense_Mutation_p.E922*|ZFYVE16_uc003kgs.4_Nonsense_Mutation_p.E922*|ZFYVE16_uc003kgt.4_Intron	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	922					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TACTACAGTGGAAAAGCCAAA	0.328000														58			14		1.5842e-08	1.73923e-08	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32740700	32740700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32740700G>A	uc010ezu.3	+	54	11346	c.11212G>A	c.(11212-11214)Gca>Aca	p.A3738T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3738					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3737V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGACCAGTGCAAGATCAGC	0.448000														117			23		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26492332	26492332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26492332G>A	uc003xfb.2	+	7	1158	c.727G>A	c.(727-729)Gcc>Acc	p.A243T	DPYSL2_uc003xfa.3_Missense_Mutation_p.A348T|DPYSL2_uc011lag.2_Missense_Mutation_p.A243T|DPYSL2_uc011lah.2_Missense_Mutation_p.A207T	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	243					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.A243T(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CATCACCATCGCCAACCAGAC	0.582000														212			39		0	0	1	0	0
KIAA0226	9711	broad.mit.edu	37	3	197408002	197408002	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197408002G>A	uc003fyc.2	-	15	2611	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	KIAA0226_uc003fyd.3_Missense_Mutation_p.R765W|KIAA0226_uc003fye.1_Missense_Mutation_p.R542W	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	810					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		GGTCTTACCCGGACTTGATTG	0.562000														120			23		0	0	1	0	0
EBPL	84650	broad.mit.edu	37	13	50237284	50237284	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50237284T>C	uc001vdg.3	-	2	352	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.T97A	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	97					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		GACACAATGGTTGGATCAAAA	0.403000														107			25		0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20819860	20819860	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20819860G>A	uc002zsl.2	-	3	554	c.397C>T	c.(397-399)Cca>Tca	p.P133S	KLHL22_uc011ahr.2_5'UTR	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	133					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATAATTTCTGGGATCTGCAGA	0.522000														91			23		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9197373	9197373	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9197373G>A	uc003jek.2	-	9	1687	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	325	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCGCGATGGCGCTCAGGTTGA	0.597000														191			42		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716563	13716563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13716563G>A	uc001rbt.2	-	12	3788	c.3609C>T	c.(3607-3609)aaC>aaT	p.N1203N		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1203					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCACTCCACGTTGGTCAGGT	0.637000														225			56		0	0	1	0	0
ZBTB8A	653121	broad.mit.edu	37	1	33058584	33058584	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33058584C>T	uc001bvn.3	+	2	537	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C	ZBTB8A_uc001bvk.3_Non-coding_Transcript|ZBTB8A_uc001bvm.3_Missense_Mutation_p.R18C	NM_001040441	NP_001035531	Q96BR9	ZBT8A_HUMAN	Homo sapiens zinc finger and BTB domain containing 8A (ZBTB8A), mRNA.	18					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						GAACGAGCAGCGCAGGCAAGA	0.418000														64			12		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164561	42164561	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42164561G>A	uc001zos.3	-	26	5332	c.4999C>T	c.(4999-5001)Cgt>Tgt	p.R1667C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1702					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCACCACACGCTGCTGCTCA	0.612000														48			19		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183503951	183503951	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183503951C>T	uc003fly.2	+	19	2970	c.2775C>T	c.(2773-2775)tcC>tcT	p.S925S	YEATS2_uc003flz.3_Silent_p.S4S	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	925					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAAAATATCCGATAGCACCT	0.488000														116			15		0	0	1	0	0
SKP2	6502	broad.mit.edu	37	5	36168460	36168460	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36168460A>G	uc003jkc.2	+	4	802	c.582A>G	c.(580-582)gaA>gaG	p.E194E	SKP2_uc003jkd.3_Silent_p.E194E|SKP2_uc011cou.2_Intron	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	194					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGTTATAGAAGTGTCCACCC	0.507000														301			73		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84695391	84695391	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84695391C>T	uc002fig.3	+	4	1644	c.1503C>T	c.(1501-1503)agC>agT	p.S501S	KLHL36_uc010chl.3_Silent_p.S437S|AK057887_uc002fih.3_5'Flank	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	501										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCGGGGGCAGCGATGACAACA	0.682000														119			49		0	0	1	0	0
ZNRF1	84937	broad.mit.edu	37	16	75138699	75138699	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75138699G>T	uc010cgr.1	+	3	1346	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	ZNRF1_uc010vmz.1_Missense_Mutation_p.D180Y|ZNRF1_uc002fdk.3_Missense_Mutation_p.D180Y|ZNRF1_uc002fdl.1_Missense_Mutation_p.D180Y	NM_032268	NP_115644	Q8ND25	ZNRF1_HUMAN	Homo sapiens zinc and ring finger 1 (ZNRF1), mRNA.	180						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						GCTGACTAAAGACGCGGGTGA	0.587000														20			4		0.150653	0.151008	1	1	0
HAS3	3038	broad.mit.edu	37	16	69148647	69148647	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69148647C>A	uc010cfh.3	+	3	1364	c.1140C>A	c.(1138-1140)acC>acA	p.T380T	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.T380T	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	380					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TCTGGATGACCTACGAGTCAG	0.547000														203			60		3.57465e-26	4.46461e-26	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9122771	9122771	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9122771G>A	uc003jek.2	-	13	2490	c.1778C>T	c.(1777-1779)tCc>tTc	p.S593F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	593	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGCACACCTGGAACAGTTGGC	0.567000														136			34		0	0	1	0	0
GCFC2	6936	broad.mit.edu	37	2	75917768	75917768	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75917768G>A	uc002sno.3	-	7	1352	c.1222C>T	c.(1222-1224)Cga>Tga	p.R408*	GCFC2_uc010ffs.3_5'UTR|GCFC2_uc002snn.3_Nonsense_Mutation_p.R239*|GCFC2_uc010fft.3_Nonsense_Mutation_p.R83*	NM_003203	NP_001188263	P16383	GCF_HUMAN	Homo sapiens GC-rich sequence DNA-binding factor 2 (GCFC2), transcript variant 1, mRNA.	408					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity										AGGTACCTTCGAGATTCAATC	0.313000														82			8		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39383090	39383090	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39383090G>A	uc003jlx.3	-	9	1502	c.971C>T	c.(970-972)tCg>tTg	p.S324L	DAB2_uc003jlw.3_Missense_Mutation_p.S303L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	324					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468000														210			9		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216390747	216390747	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216390747G>A	uc001hku.1	-	14	3526	c.3139C>T	c.(3139-3141)Cta>Tta	p.L1047L	USH2A_uc001hkv.3_Silent_p.L1047L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1047	Laminin EGF-like 10.		L -> V.		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)		CAACCCAATAGATTGTTGACA	0.448000										HNSCC(13;0.011)				73			22		0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73616569	73616569	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73616569C>T	uc002avp.3	-	6	2998	c.2004G>A	c.(2002-2004)cgG>cgA	p.R668R		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	668					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGGCTGTGCGCCGGCCCCGGG	0.647000														99			35		0	0	1	0	0
OCLM	10896	broad.mit.edu	37	1	186370258	186370258	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186370258T>C	uc001gry.3	+	0	555	c.81T>C	c.(79-81)taT>taC	p.Y27Y	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Intron|C1orf27_uc021pgh.1_Intron|C1orf27_uc021pgi.1_Intron|C1orf27_uc021pgj.1_Intron|C1orf27_uc021pgk.1_Intron|C1orf27_uc021pgl.1_Intron	NM_022375	NP_071770	Q9Y5M6	TISR_HUMAN	Homo sapiens oculomedin (OCLM), mRNA.	27					visual perception												AAATCCTTTATAAAAGTGGTA	0.323000														70			33		0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15884913	15884913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15884913G>A	uc010xor.1	-	1	169	c.149C>T	c.(148-150)cCc>cTc	p.P50L	CYP4F24P_uc002nbo.3_Non-coding_Transcript					Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA.																		CTTTATATAGGGTTTCAGGAT	0.547000														56			10		0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183476677	183476677	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183476677C>T	uc003fly.2	+	12	1775	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	527					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCTCCACGGCTTCTCAGGTC	0.363000														97			14		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43596002	43596002	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43596002C>T	uc001jal.3	+	1	359	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RET_uc001jak.1_Missense_Mutation_p.R57W	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	57					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCATGCCCTGCGGGACGCCCC	0.622000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					138			33		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21640477	21640477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21640477G>A	uc003svc.3	+	15	3215	c.3184G>A	c.(3184-3186)Gat>Aat	p.D1062N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1062	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGTCTTCCGATGAAATGGA	0.433000									Kartagener syndrome					188			37		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107591298	107591298	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107591298G>A	uc004bcl.3	-	14	2418	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	672					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCATGATCCGCATGGTCTCT	0.527000														93			25		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48451722	48451722	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48451722T>C	uc003csw.2	-	30	5858	c.5588A>G	c.(5587-5589)gAt>gGt	p.D1863G	PLXNB1_uc003cst.2_Missense_Mutation_p.D313G|PLXNB1_uc003csu.2_Missense_Mutation_p.D1680G|PLXNB1_uc003csx.2_Missense_Mutation_p.D1863G	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1863					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.Q1862*(1)|p.Q1862K(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGGACATAATCCTGGTTTTC	0.632000														64			18		0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121202852	121202852	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121202852A>C	uc001tzd.3	-	10	1590	c.1105T>G	c.(1105-1107)Tct>Gct	p.S369A	SPPL3_uc001tzc.3_Missense_Mutation_p.S199A	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	370						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AAAGGCTCAGACCACATCCGC	0.468000														66			19		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866638	42866638	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42866638C>T	uc002otl.4	+	32	6381	c.5746C>T	c.(5746-5748)Cga>Tga	p.R1916*	MEGF8_uc002otm.4_Nonsense_Mutation_p.R1524*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1983	PSI 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GATCAACCAGCGAGAGGTCTT	0.627000														305			69		0	0	1	0	0
DUSP7	1849	broad.mit.edu	37	3	52088391	52088391	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52088391C>A	uc003dct.3	-	2	597	c.518_splice	c.e2-1	p.G173_splice	DUSP7_uc010hma.2_Intron	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	173	Rhodanese.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTGAAACCACCTGTGTCCAGG	0.597000														77			21		4.96729e-08	5.40616e-08	1	1	0
AP4B1	10717	broad.mit.edu	37	1	114445332	114445332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114445332G>A	uc001eeb.3	-	1	452	c.266C>T	c.(265-267)aCg>aTg	p.T89M	AP4B1_uc001eec.3_Intron|AP4B1_uc010owp.2_5'UTR|AP4B1_uc001eed.3_Missense_Mutation_p.T89M|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.2_Missense_Mutation_p.T89M|DCLRE1B_uc001eeh.3_5'Flank|DCLRE1B_uc001eeg.3_5'Flank|DCLRE1B_uc001eei.3_5'Flank	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	89					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGCACAGCGTATTGATGGC	0.522000														119			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179466617	179466617	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179466617C>T	uc021vsy.1	-	233	47815	c.47590G>A	c.(47590-47592)Gat>Aat	p.D15864N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D9559N|TTN_uc021vta.1_Missense_Mutation_p.D9492N|TTN_uc021vtb.1_Missense_Mutation_p.D9367N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16791	Fibronectin type-III 15.						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)			aCCTGTGCATCTTCGGGTATG	0.308000														72			10		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247902	56247902	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56247902G>T	uc010wnp.2	+	0	886	c.886G>T	c.(886-888)Gca>Tca	p.A296S		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A296T(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GGACATGCAGGCAGCAGTGAG	0.512000														228			17		2.48551e-13	2.89355e-13	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603154	111603154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603154C>T	uc010hqa.3	+	1	641	c.230C>T	c.(229-231)aCc>aTc	p.T77I	PHLDB2_uc003dyc.3_Missense_Mutation_p.T104I|PHLDB2_uc003dyd.3_Missense_Mutation_p.T77I|PHLDB2_uc003dyg.3_Missense_Mutation_p.T77I|PHLDB2_uc003dyh.3_Missense_Mutation_p.T77I|PHLDB2_uc003dye.4_Missense_Mutation_p.T77I|PHLDB2_uc003dyf.4_Missense_Mutation_p.T77I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	77						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CCTTTGGGAACCAGTGTCAGA	0.458000														269			44		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33656032	33656032	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33656032G>A	uc021ywr.1	+	47	6616	c.6392G>A	c.(6391-6393)cGc>cAc	p.R2131H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2131					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGCAGGACCGCAGCATGGAG	0.652000														228			33		0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97634384	97634384	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97634384T>G	uc003ppb.3	-	14	2488	c.2222A>C	c.(2221-2223)gAt>gCt	p.D741A	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.D701A	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	741					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGCAGCTGCATCCGCAAGTTG	0.393000														79			9		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129612818	129612818	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129612818T>G	uc021zfb.1	+	19	2914	c.2809T>G	c.(2809-2811)Tgt>Ggt	p.C937G	LAMA2_uc003qbn.3_Missense_Mutation_p.C937G|LAMA2_uc003qbo.3_Missense_Mutation_p.C937G	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	937	Laminin EGF-like 9.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AACTGGACAGTGTGAGTGCAG	0.468000														38			12		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52862271	52862271	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52862271G>A	uc003gzi.3	-	3	924	c.917C>T	c.(916-918)cCt>cTt	p.P306L		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	306						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						ATGAATGGGAGGAAGGCGGGT	0.537000														96			36		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132287250	132287250	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132287250C>T	uc002tta.3	+	1	333	c.281C>T	c.(280-282)aCa>aTa	p.T94I	CCDC74A_uc010fnb.1_Missense_Mutation_p.T94I|CCDC74A_uc002ttb.3_Missense_Mutation_p.T94I|CCDC74A_uc021vpq.1_Missense_Mutation_p.T94I|CCDC74A_uc021vpr.1_Missense_Mutation_p.T136I	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	94										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						ATGAATCAGACATCACAGAAG	0.527000														132			13		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39623705	39623705	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39623705T>A	uc002lap.3	+	19	2170	c.2112T>A	c.(2110-2112)ttT>ttA	p.F704L	PIK3C3_uc010xcl.2_Missense_Mutation_p.F641L|PIK3C3_uc002laq.3_Missense_Mutation_p.F189L|PIK3C3_uc002lar.1_Missense_Mutation_p.F88L	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	704	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGAACTTTTTTAGAAAATATG	0.338000										TSP Lung(28;0.18)				69			22		0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7117408	7117408	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7117408G>A	uc002mgd.1	-	21	3917	c.3808C>T	c.(3808-3810)Cgc>Tgc	p.R1270C	INSR_uc002mge.1_Missense_Mutation_p.R1258C	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1270	Protein kinase.				G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity	p.R1270H(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCACATGCGCATGAGGTCA	0.607000														111			32		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31318431	31318431	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318431G>A	uc021sia.1	-	25	3905	c.3591C>T	c.(3589-3591)ttC>ttT	p.F1197F	TRPM1_uc010azy.3_Silent_p.F1065F|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Silent_p.F1180F|TRPM1_uc001zfm.3_Silent_p.F1158F	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1158					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTGCTCCTCGAACTCATGCA	0.557000														66			14		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95719394	95719394	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95719394C>A	uc009xuj.2	-	0	2279	c.1760G>T	c.(1759-1761)gGc>gTc	p.G587V						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		GTGATTGTTGCCTTGTCGGTG	0.517000														41			10		3.86212e-05	4.026e-05	1	1	0
CALCB	797	broad.mit.edu	37	11	15096342	15096342	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15096342G>A	uc001mlx.1	+	1	151	c.78G>A	c.(76-78)gcG>gcA	p.A26A	CALCB_uc009ygr.1_Silent_p.A26A	NM_000728	NP_000719	P10092	CALCB_HUMAN	Homo sapiens calcitonin-related polypeptide beta (CALCB), mRNA.	26					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						TCCAGGCGGCGCCATTCAGGT	0.622000											OREG0020793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			20		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687518	7687518	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687518G>A	uc002mgx.3	-	10	1427	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	467				A -> V (in Ref. 2; AAF86951).	transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CAAAGTACTCGGCCCGGCGGG	0.672000								Direct reversal of damage;Nucleotide excision repair (NER)						172			21		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825080	52825080	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825080G>T	uc010ydl.2	+	4	647	c.577G>T	c.(577-579)Gaa>Taa	p.E193*	ZNF480_uc002pyv.3_Nonsense_Mutation_p.E116*|ZNF480_uc010ydm.2_Nonsense_Mutation_p.E150*|ZNF480_uc010epn.3_Nonsense_Mutation_p.E24*|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TCTCCCACAAGAACAGAAAGT	0.363000														85			7		1.12685e-05	1.18529e-05	1	1	0
FAM75C1	441452	broad.mit.edu	37	9	90537129	90537129	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90537129A>G	uc010mqi.3	+	3	2336	c.2307A>G	c.(2305-2307)ggA>ggG	p.G769G	FAM75C1_uc004apq.4_Silent_p.G752G|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CTACAGCTGGACAGGAGGGCA	0.582000														115			28		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55315895	55315895	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55315895C>T	uc002lgw.3	-	27	3701	c.3581G>A	c.(3580-3582)cGg>cAg	p.R1194Q	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	1194					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACCTGCTGCCGTCGCTGCCA	0.652000														38			9		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79032156	79032156	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79032156A>G	uc003kgc.3	+	1	7640	c.7568A>G	c.(7567-7569)tAc>tGc	p.Y2523C		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2523						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATGAAGACTACAATGAAAGA	0.373000														32			13		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20278871	20278871	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20278871G>A	uc002wru.3	+	24	3377	c.3263G>A	c.(3262-3264)cGa>cAa	p.R1088Q	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1088								p.R1088Q(6)|p.R1088P(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACTTACTTCCGAATTCATATT	0.458000														74			17		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100420110	100420110	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100420110G>A	uc003uwn.1	-	3	1082	c.591C>T	c.(589-591)tgC>tgT	p.C197C	EPHB4_uc003uwm.1_Silent_p.C104C|EPHB4_uc010lhj.1_Silent_p.C197C|EPHB4_uc011kkf.1_Silent_p.C197C|EPHB4_uc011kkg.1_Silent_p.C197C|EPHB4_uc011kkh.1_Silent_p.C197C	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	197	Cys-rich.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAGCTGGGCGCACTTTTTGT	0.642000														65			11		0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121509063	121509063	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121509063C>A	uc010hre.1	-	11	1202	c.987_splice	c.e11-1	p.R329_splice	IQCB1_uc010hrf.1_Splice_Site|IQCB1_uc003eek.2_Splice_Site_p.R196_splice	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	329	IQ 2.				cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TCGTTTGGATCTGTGATGGAA	0.318000														155			36		6.53348e-20	7.95937e-20	1	1	0
WASF1	8936	broad.mit.edu	37	6	110423106	110423106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110423106C>T	uc003ptv.1	-	9	2044	c.1207G>A	c.(1207-1209)Gct>Act	p.A403T	WASF1_uc003ptw.1_Missense_Mutation_p.A403T|WASF1_uc003ptx.1_Missense_Mutation_p.A403T|WASF1_uc003pty.1_Missense_Mutation_p.A403T	NM_003931	NP_003922	Q92558	WASF1_HUMAN	Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA.	403					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		ACTGGGGCAGCTCTAGCTACT	0.592000														115			33		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132393284	132393284	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132393284G>A	uc001uje.3	+	5	680	c.412G>A	c.(412-414)Gac>Aac	p.D138N		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	138	Protein kinase.				autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CATCCACCGCGACCTGAAACC	0.672000														76			29		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61734637	61734637	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61734637A>C	uc003xue.3	+	10	3382	c.2890A>C	c.(2890-2892)Aac>Cac	p.N964H	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.N77H	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	964					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)			GGAGTATAAAAACAATAACAA	0.378000														56			9		0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43533874	43533874	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43533874T>C	uc003job.3	-	8	1465	c.1218A>G	c.(1216-1218)acA>acG	p.T406T	PAIP1_uc003joa.3_Silent_p.T327T|PAIP1_uc003joc.3_Silent_p.T294T	NM_006451	NP_899152	Q9H074	PAIP1_HUMAN	Homo sapiens poly(A) binding protein interacting protein 1 (PAIP1), transcript variant 1, mRNA.	406					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	RNA binding|protein binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CACCATCAGATGTATAAAATG	0.348000														114			25		0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394142	54394142	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54394142C>T	uc001seq.3	+	0	266	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	57					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGCTTCGCGCCCAAGCCGGCA	0.687000														135			24		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443517	5443517	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5443517C>T	uc010qzd.2	+	0	177	c.87C>T	c.(85-87)atC>atT	p.I29I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGATCTCCATCCCCG	0.522000														318			15		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58551856	58551856	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58551856A>G	uc002qrc.1	+	3	656	c.409A>G	c.(409-411)Agt>Ggt	p.S137G		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	137					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.W136C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCAGGACTGGAGTTTCGGTGA	0.617000														340			27		0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785445	178785445	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178785445C>A	uc003fjg.3	-	1	427	c.96G>T	c.(94-96)caG>caT	p.Q32H	ZMAT3_uc003fji.3_Missense_Mutation_p.Q32H	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	32					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GTGGTGGAAGCTGCAAGGTTC	0.582000														217			55		2.14255e-21	2.6293e-21	1	1	0
ICAM5	7087	broad.mit.edu	37	19	10404950	10404950	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10404950A>G	uc002mnu.4	+	7	2011	c.1946A>G	c.(1945-1947)aAc>aGc	p.N649S	ICAM5_uc002mnv.4_Missense_Mutation_p.N524S	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	649	Ig-like C2-type 7.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AACGCCACCAACCGCCACGGC	0.682000														677			23		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30723931	30723931	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30723931T>C	uc003gsk.1	+	0	1895	c.887T>C	c.(886-888)gTc>gCc	p.V296A	PCDH7_uc011bxx.2_Missense_Mutation_p.V296A|PCDH7_uc021xnd.1_Missense_Mutation_p.V296A|PCDH7_uc021xnc.1_Missense_Mutation_p.V296A	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	296	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCCTACGGGTCCTCATCACC	0.687000														41			8		0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302292	6302292	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6302292G>T	uc003wqi.3	+	7	1125	c.1049G>T	c.(1048-1050)aGg>aTg	p.R350M	MCPH1_uc003wqh.3_Missense_Mutation_p.R350M|MCPH1_uc011kwl.2_Missense_Mutation_p.R302M	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	350						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAGACCCAGGAGTTCCTCA	0.453000														73			14		0.000151284	0.000156809	1	1	0
CUX1	1523	broad.mit.edu	37	7	101747666	101747666	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101747666C>T	uc003uys.4	+	5	617	c.490C>T	c.(490-492)Ctg>Ttg	p.L164L	CUX1_uc003uyw.3_Silent_p.L118L|CUX1_uc003uyv.3_Silent_p.L148L|CUX1_uc003uyt.3_Silent_p.L164L|CUX1_uc003uyu.3_Silent_p.L164L|CUX1_uc011kkn.2_Silent_p.L127L|CUX1_uc003uyx.4_Silent_p.L153L	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	153					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGAACAGACACTGAAGAACCA	0.398000														156			32		0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76089140	76089140	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76089140G>A	uc002jud.2	+	15	4697	c.4097G>A	c.(4096-4098)aGc>aAc	p.S1366N	TNRC6C_uc002juf.2_Missense_Mutation_p.S1363N	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1366					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GTTCCCCATAGCTGGTCACGT	0.517000														57			14		0	0	1	0	0
C1orf162	128346	broad.mit.edu	37	1	112020639	112020639	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112020639C>A	uc001ebe.3	+	5	422	c.362C>A	c.(361-363)gCc>gAc	p.A121D		NM_174896	NP_777556	Q8NEQ5	CA162_HUMAN	Homo sapiens chromosome 1 open reading frame 162 (C1orf162), mRNA.	121						integral to membrane		p.A121V(2)		NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTTACCTATGCCAGCACAACT	0.443000														102			12		0.000978159	0.0010017	1	1	0
WWP1	11059	broad.mit.edu	37	8	87393071	87393071	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87393071A>C	uc003ydt.3	+	3	467	c.187A>C	c.(187-189)Aaa>Caa	p.K63Q	WWP1_uc010mai.3_5'UTR	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	63	C2.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTCTAATCCAAAATGGGATGA	0.318000														32			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233192981	233192981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233192981G>A	uc001hvl.2	-	23	4367	c.4132C>T	c.(4132-4134)Cca>Tca	p.P1378S	PCNXL2_uc001hvk.1_Missense_Mutation_p.P30S|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1378						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCTTACCTGGATCTCTTTCA	0.393000														20			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481716	179481716	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481716G>A	uc021vsy.1	-	204	40421	c.40196C>T	c.(40195-40197)gCa>gTa	p.A13399V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A7094V|TTN_uc021vta.1_Missense_Mutation_p.A7027V|TTN_uc021vtb.1_Missense_Mutation_p.A6902V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14326	Ig-like 90.		I -> M.				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)			ATCTTTAAATGCACTTAAATC	0.408000														176			30		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2974175	2974175	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2974175G>A	uc003smv.3	-	9	1764	c.1430C>T	c.(1429-1431)tCt>tTt	p.S477F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	477					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGAGGTGGAAGAATCGTCAGC	0.577000			Mis		DLBCL									87			19		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79514338	79514338	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79514338G>T	uc002kaq.3	-	4	1843	c.1770C>A	c.(1768-1770)ggC>ggA	p.G590G	C17orf70_uc002kao.1_Silent_p.G239G|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Silent_p.G439G	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	590					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GGTCGAGCCCGCCGTTCTCAC	0.692000														131			41		1.07121e-22	1.32195e-22	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14105607	14105607	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14105607C>T	uc001avi.3	+	7	2173	c.1317C>T	c.(1315-1317)aaC>aaT	p.N439N	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.N439N|PRDM2_uc021ogk.1_Silent_p.N202N|PRDM2_uc001avk.3_Silent_p.N238N|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	439						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CTGGAGAAAACGTTGCTTCAA	0.502000														100			21		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3727504	3727504	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3727504G>A	uc010ewt.3	+	4	379	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	92							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTCATCCGGGGCTTCGAC	0.552000										HNSCC(21;0.051)				184			57		0	0	1	0	0
LY96	23643	broad.mit.edu	37	8	74922249	74922249	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74922249G>T	uc003yad.3	+	2	330	c.216G>T	c.(214-216)aaG>aaT	p.K72N	LY96_uc022awb.1_Missense_Mutation_p.K42N	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	72					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular defense response|detection of lipopolysaccharide|inflammatory response|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			GAGATTTAAAGCAATTATATT	0.318000														56			19		5.35267e-07	5.74308e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9057514	9057514	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9057514C>A	uc002mkp.3	-	2	30136	c.29932G>T	c.(29932-29934)Gcc>Tcc	p.A9978S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9980	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAAGGGGGCTGTTGTTGTG	0.463000														304			72		4.4952e-20	5.47655e-20	1	1	0
SELO	83642	broad.mit.edu	37	22	50655270	50655270	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50655270C>T	uc021wry.1	+	6	1711	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	SELO_uc010hap.3_Silent_p.N362N|SELO_uc003bjy.3_Silent_p.N231N	NM_031454		Q9BVL4	SELO_HUMAN	Homo sapiens selenoprotein O (SELO), mRNA.	551													all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGCAGGAACCAGGGCCACT	0.682000														84			21		0	0	1	0	0
IGJ	3512	broad.mit.edu	37	4	71522187	71522187	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71522187G>T	uc010ihz.3	-	4	528	c.387C>A	c.(385-387)atC>atA	p.I129I	IGJ_uc003hfn.4_Silent_p.I113I	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	113					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			CTTCATCACAGATATTGCTCT	0.418000														80			22		7.45023e-12	8.53574e-12	1	1	0
MRPS36	92259	broad.mit.edu	37	5	68524042	68524042	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68524042G>T	uc003jvq.3	+	2	206	c.122G>T	c.(121-123)aGa>aTa	p.R41I		NM_033281	NP_150597	P82909	RT36_HUMAN	Homo sapiens mitochondrial ribosomal protein S36 (MRPS36), nuclear gene encoding mitochondrial protein, mRNA.	41					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		GAAGCTTTGAGATCAGCAGGG	0.338000														49			9		0.00621372	0.00630477	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158617374	158617374	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158617374C>T	uc001fst.1	-	26	4050	c.3851G>A	c.(3850-3852)aGc>aAc	p.S1284N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1284					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)					CTCATTTAGGCTCTCCTTACG	0.547000														199			25		0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120769288	120769288	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120769288C>A	uc001pxn.2	+	11	1499	c.1212C>A	c.(1210-1212)ctC>ctA	p.L404L	GRIK4_uc009zav.1_Silent_p.L404L|GRIK4_uc009zaw.1_Silent_p.L404L|GRIK4_uc009zax.1_Silent_p.L404L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	404					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ACAGCCACCTCTATGCCTCCA	0.602000														80			16		5.03518e-11	5.70985e-11	1	1	0
SCFD2	152579	broad.mit.edu	37	4	54232059	54232059	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54232059A>G	uc003gzu.3	-	0	184	c.50T>C	c.(49-51)gTg>gCg	p.V17A	SCFD2_uc010igm.3_Missense_Mutation_p.V17A	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	17					protein transport|vesicle docking involved in exocytosis			p.V17V(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTTGGCCAGCACCTGCTCCCA	0.622000														134			23		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993325	38993325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38993325C>T	uc002oit.3	+	47	7923	c.7793C>T	c.(7792-7794)gCg>gTg	p.A2598V	RYR1_uc002oiu.3_Missense_Mutation_p.A2598V|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2598	6 X approximate repeats.				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)	CTCACCAAGGCGCAGCGTGAC	0.672000														85			20		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72741317	72741317	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72741317C>T	uc004ahm.2	+	5	1503	c.886C>T	c.(886-888)Cct>Tct	p.P296S	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	296	MAM 2.					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						GTTCAGTGCTCCTTACCCCAT	0.572000														66			14		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924410	24924410	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24924410A>C	uc001ywo.3	+	0	3870	c.3396A>C	c.(3394-3396)aaA>aaC	p.K1132N		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1132					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGAGAGAAAATTCTACACTT	0.483000														217			53		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84228383	84228383	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84228383G>A	uc004alz.3	-	11	1443	c.1002C>T	c.(1000-1002)agC>agT	p.S334S	TLE1_uc004aly.3_Silent_p.S324S|TLE1_uc011lsr.2_Silent_p.S324S|TLE1_uc004ama.1_Silent_p.S324S|TLE1_uc011lss.1_Silent_p.S250S	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	324	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCATGTCGCTCCGAGGCG	0.537000														215			39		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7699832	7699832	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7699832G>T	uc002giu.1	+	48	7739	c.7725G>T	c.(7723-7725)caG>caT	p.Q2575H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2575	AAA 3 (By similarity).				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)				AGAAGCTTCAGGACTTTGAGG	0.562000														106			31		3.67414e-24	4.56162e-24	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141336470	141336470	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141336470G>T	uc003llx.3	-	0	2158	c.947C>A	c.(946-948)cCt>cAt	p.P316H		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	316	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGTAGGCAGGGTTCTTTTC	0.512000														150			10		0.000673444	0.000690401	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140784352	140784352	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140784352C>A	uc003lkh.2	+	0	1833	c.1833C>A	c.(1831-1833)gcC>gcA	p.A611A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.A611A	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	613	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTCAAGGCCAGTGAGCCAG	0.612000														187			44		1.41504e-22	1.74518e-22	1	1	0
C2orf50	130813	broad.mit.edu	37	2	11273597	11273597	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11273597G>A	uc010yji.1	+	0	419	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	FLJ33534_uc021vdv.1_5'Flank|FLJ33534_uc002rba.2_5'Flank|C2orf50_uc010yjj.1_Missense_Mutation_p.C46Y	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	46										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GCTGGTGGCTGCCAGGCCCCC	0.711000														58			15		0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	192901	192901	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:192901C>T	uc003wot.3	+	2	315	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ZNF596_uc003wou.3_5'UTR|ZNF596_uc003wov.3_Silent_p.F9F|ZNF596_uc003wow.3_Silent_p.F9F	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		CCATGACCTTCGAGGATATCA	0.438000														66			7		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37509738	37509738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37509738C>T	uc002rqd.3	-	5	1490	c.935G>A	c.(934-936)cGc>cAc	p.R312H	PRKD3_uc002rqf.1_Missense_Mutation_p.R312H	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	312					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGATGCACAGCGTTTATGGCA	0.313000														78			32		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74442353	74442353	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74442353C>A	uc003hhd.1	-	8	1036	c.913G>T	c.(913-915)Gat>Tat	p.D305Y	RASSF6_uc003hhc.1_Missense_Mutation_p.D273Y|RASSF6_uc010iik.1_Missense_Mutation_p.D239Y|RASSF6_uc010iil.1_Missense_Mutation_p.D261Y	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	305	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTTCTGCATCTTTATCCATG	0.433000														198			28		1.04121e-07	1.12981e-07	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40251388	40251388	+	Missense_Mutation	SNP	G	A	A	rs146905729	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40251388G>A	uc003cka.3	+	10	1844	c.1709G>A	c.(1708-1710)cGg>cAg	p.R570Q	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.R570Q|MYRIP_uc010hhw.3_Missense_Mutation_p.R481Q|MYRIP_uc011ayz.2_Missense_Mutation_p.R383Q|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	570	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AATGAGGCTCGGGATCCCCAG	0.483000														146			27		0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4804099	4804099	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4804099C>T	uc002fzk.1	-	7	917	c.906G>A	c.(904-906)ccG>ccA	p.P302P	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	302					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						TGCCCAGGAGCGGCACGCTCA	0.632000														72			18		0	0	1	0	0
ATXN7L2	127002	broad.mit.edu	37	1	110031538	110031538	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110031538C>A	uc001dxr.3	+	6	868	c.853C>A	c.(853-855)Ctg>Atg	p.L285M	ATXN7L2_uc001dxs.3_5'UTR	NM_153340	NP_699171	Q5T6C5	AT7L2_HUMAN	Homo sapiens ataxin 7-like 2 (ATXN7L2), mRNA.	285	SCA7.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGTGGCAGAGCTGAAGGCCAA	0.627000														151			11		2.80697e-09	3.10977e-09	1	1	0
IRF8	3394	broad.mit.edu	37	16	85954818	85954818	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85954818G>A	uc002fjh.3	+	8	1268	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	404					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R404W(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CAGGTCTTCCGGATGTTTCCA	0.587000														203			65		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29659826	29659826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29659826G>A	uc021qwi.1	-	17	2661	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	TMTC1_uc001riz.3_Missense_Mutation_p.R517C|TMTC1_uc001rja.3_Missense_Mutation_p.R604C|TMTC1_uc001rjb.3_Missense_Mutation_p.R760C|TMTC1_uc001riy.3_Missense_Mutation_p.R213C	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTCTAGGCGATCCAATTTG	0.458000														167			32		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3212030	3212030	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3212030C>T	uc010zqe.2	-	7	1148	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SLC4A11_uc002wig.3_Silent_p.A314A|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.A298A	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	314					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCGTTCTCGGCGCCACTGGAC	0.657000														169			36		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98588118	98588118	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98588118T>C	uc003upp.3	+	62	9853	c.9644T>C	c.(9643-9645)tTg>tCg	p.L3215S	TRRAP_uc011kis.2_Missense_Mutation_p.L3186S|TRRAP_uc003upr.3_Missense_Mutation_p.L2903S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3215	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAAACACTTTGGCAGATGCC	0.507000														123			32		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630386	67630386	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:67630386T>G	uc002sdz.1	+	4	711	c.572T>G	c.(571-573)cTt>cGt	p.L191R		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	191						cytoplasm|nucleus		p.E190*(1)		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						GAAGAAGAACTTATGAAACTG	0.264000														61			9		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463849	247463849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463849C>T	uc009xgv.3	-	7	1881	c.1844G>A	c.(1843-1845)cGt>cAt	p.R615H	ZNF496_uc001ico.3_Missense_Mutation_p.R579H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	579					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGCTTGGAACGGCGCTTCAT	0.642000														118			42		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21014359	21014359	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21014359G>A	uc001bdr.4	-	7	1578	c.1460C>T	c.(1459-1461)cCg>cTg	p.P487L	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Missense_Mutation_p.P487L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	487					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AAAAGCAGGCGGGTACTCAGC	0.547000														156			7		0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63721914	63721914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63721914C>T	uc009yoz.3	+	7	804	c.677C>T	c.(676-678)tCc>tTc	p.S226F	NAA40_uc010rmw.2_Missense_Mutation_p.S186F|NAA40_uc010rmx.2_Missense_Mutation_p.S205F|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	226							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						AGCCATCACTCCCACGCGGGT	0.562000														123			24		0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48733272	48733272	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48733272G>A	uc002isl.3	+	1	205	c.125G>A	c.(124-126)tGc>tAc	p.C42Y	ABCC3_uc002isk.4_Missense_Mutation_p.C42Y	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	42				C -> R (in Ref. 5; CAA76658).	bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TGGGTGCCCTGCATCTACCTG	0.587000														104			22		0	0	1	0	0
TLK2	11011	broad.mit.edu	37	17	60685440	60685440	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60685440A>G	uc010ddp.3	+	21	2344	c.2076A>G	c.(2074-2076)caA>caG	p.Q692Q	TLK2_uc002izx.4_Silent_p.Q518Q|TLK2_uc002izz.4_Silent_p.Q670Q|TLK2_uc002jaa.4_Silent_p.Q638Q|TLK2_uc010wpd.2_Silent_p.Q638Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	692	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						ACATCCTACAAGAGAATACGA	0.398000														72			15		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130269380	130269380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130269380C>T	uc004brh.3	-	13	2187	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	FAM129B_uc004bri.3_Missense_Mutation_p.R649Q|FAM129B_uc004brj.4_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	662							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GCTCTCAGGCCGCAGACCTTG	0.731000														32			5		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148865211	148865211	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148865211C>T	uc003qme.1	+	17	3080	c.2605C>T	c.(2605-2607)Cca>Tca	p.P869S	SASH1_uc011eeb.1_Missense_Mutation_p.P630S|SASH1_uc003qmf.1_Missense_Mutation_p.P279S	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	869							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		ACCTGAAGTGCCACAGAAGAC	0.562000														429			88		0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23093780	23093780	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23093780T>C	uc002dll.3	-	11	1929	c.1929A>G	c.(1927-1929)atA>atG	p.I643M	USP31_uc010bxm.3_5'UTR	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	643					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCTTTAGATGTATAATAAGCA	0.498000														91			29		0	0	1	0	0
OR2K2	26248	broad.mit.edu	37	9	114089992	114089992	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114089992C>A	uc011lwp.2	-	0	722	c.722G>T	c.(721-723)gGt>gTt	p.G241V		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAAATGGGCACCACAGGTAGA	0.408000														95			18		2.35188e-11	2.67805e-11	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41791219	41791219	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41791219T>G	uc010lxb.3	-	17	5063	c.4519A>C	c.(4519-4521)Agt>Cgt	p.S1507R	KAT6A_uc010lxc.3_Missense_Mutation_p.S1507R|KAT6A_uc003xon.4_Missense_Mutation_p.S1507R	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	1507					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTGTAGCCACTCTCAAGGGCA	0.562000														156			57		0	0	1	0	0
RGNEF	64283	broad.mit.edu	37	5	73154028	73154028	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:73154028G>T	uc010izf.3	+	15	2207	c.2031G>T	c.(2029-2031)gaG>gaT	p.E677D	RGNEF_uc011csq.2_Missense_Mutation_p.E677D|RGNEF_uc021yam.1_Missense_Mutation_p.E677D|RGNEF_uc011csr.2_Missense_Mutation_p.E364D	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	677					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGGGGAAAGAGTCACTGCAGT	0.443000														207			35		3.03874e-20	3.70712e-20	1	1	0
GCM1	8521	broad.mit.edu	37	6	52995599	52995599	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995599A>G	uc003pbp.3	-	5	779	c.570_splice	c.e5+1	p.R190_splice		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	190						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGAAGGATTACCCTGGTCTC	0.512000														105			19		0	0	1	0	0
FAM13A	10144	broad.mit.edu	37	4	89708990	89708990	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89708990T>C	uc003hse.1	-	9	1393	c.1185A>G	c.(1183-1185)ggA>ggG	p.G395G	FAM13A_uc003hsb.1_Silent_p.G69G|FAM13A_uc003hsd.1_Silent_p.G69G|FAM13A_uc003hsc.1_Silent_p.G55G|FAM13A_uc011cdq.1_Silent_p.G41G|FAM13A_uc003hsf.1_Intron|FAM13A_uc003hsg.1_5'UTR|FAM13A_uc003hsh.1_Silent_p.G209G|FAM13A_uc010ikr.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	395					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						CTGATAGTGTTCCAGATTCTG	0.478000														110			26		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48621004	48621004	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621004C>T	uc003ctz.2	-	39	4387	c.4386G>A	c.(4384-4386)ggG>ggA	p.G1462G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1462	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCCGGAGACCCAGGTTGTC	0.617000														102			15		0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655213	247655213	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247655213G>A	uc001icz.2	+	0	844	c.784G>A	c.(784-786)Gcc>Acc	p.A262T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGTACCTGAAGCCGGCCAACA	0.517000														186			71		0	0	1	0	0
HRG	3273	broad.mit.edu	37	3	186395415	186395415	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186395415C>T	uc003fqq.3	+	6	1344	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	441	His/Pro-rich (HRR).				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTAAGAAGGCGAGGCCCAGG	0.552000														120			35		0	0	1	0	0
DPYSL4	10570	broad.mit.edu	37	10	134012464	134012464	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134012464C>T	uc009ybb.3	+	7	954	c.800C>T	c.(799-801)gCc>gTc	p.A267V		NM_006426	NP_006417	O14531	DPYL4_HUMAN	Homo sapiens dihydropyrimidinase-like 4 (DPYSL4), mRNA.	267					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		ATCGCTCAGGCCAAGCGCAGA	0.672000														108			28		0	0	1	0	0
SULT4A1	25830	broad.mit.edu	37	22	44234874	44234874	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44234874C>A	uc003bee.1	-	4	498	c.382_splice	c.e4-1	p.V128_splice	SULT4A1_uc003bed.1_Splice_Site_p.V49_splice|SULT4A1_uc003bef.1_Splice_Site|SULT4A1_uc011aqb.1_Intron	NM_014351	NP_055166	Q9BR01	ST4A1_HUMAN	Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA.	128					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	sulfotransferase activity			kidney(1)|large_intestine(3)|lung(4)|ovary(1)	9		Ovarian(80;0.024)|all_neural(38;0.0416)		Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419)		TATAGATGACCTGTGGGTGAC	0.582000														117			31		2.81731e-10	3.16624e-10	1	1	0
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116960776C>T	uc003viz.3	-	1	455	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	52					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597000														54			12		0	0	1	0	0
KRI1	65095	broad.mit.edu	37	19	10672384	10672384	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10672384C>T	uc002moy.1	-	5	474	c.465G>A	c.(463-465)tcG>tcA	p.S155S	KRI1_uc002mow.1_5'Flank|KRI1_uc002mox.1_Silent_p.S151S	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			AACTTTGCGACGATGTCTCCT	0.607000														274			74		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9089850	9089850	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089850C>T	uc001qvd.3	+	12	2712	c.2556C>T	c.(2554-2556)cgC>cgT	p.R852R	PHC1_uc001qve.3_Silent_p.R852R	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	852					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACTATGCTCGCGTTCGCAGGC	0.537000														57			18		0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226464	79226464	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79226464G>A	uc002jzz.1	-	12	1851	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	SLC38A10_uc002jzy.1_Silent_p.G410G|SLC38A10_uc002kab.3_Silent_p.G492G	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	492					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GGTGGGCCTCGCCCACAGGCA	0.607000														149			34		0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126030321G>A	uc011liq.2	+	7	2151	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T		NM_003129	NP_003120	Q14534	ERG1_HUMAN	Homo sapiens squalene epoxidase (SQLE), mRNA.	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353000														68			7		0	0	1	0	0
PIAS4	51588	broad.mit.edu	37	19	4037768	4037768	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4037768G>A	uc002lzg.3	+	10	1438	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	476	Asp/Glu-rich (acidic).				Wnt receptor signaling pathway|positive regulation of protein sumoylation|transcription, DNA-dependent	PML body|cytoplasm	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGTCCTCggaggatgagg	0.701000														44			12		0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119536008	119536008	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119536008C>T	uc003edj.3	+	8	3093	c.1254C>T	c.(1252-1254)caC>caT	p.H418H	NR1I2_uc003edi.3_Silent_p.H381H|NR1I2_uc003edk.3_Silent_p.H457H|NR1I2_uc003edl.3_Silent_p.H306H	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	418	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	AGGACATACACCCCTTTGCTA	0.602000														168			24		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603559	111603559	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603559G>A	uc010hqa.3	+	1	1046	c.635G>A	c.(634-636)aGc>aAc	p.S212N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S239N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S212N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S212N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S212N|PHLDB2_uc003dye.4_Missense_Mutation_p.S212N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S212N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	212						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AGGAAAATGAGCATTCAGGAC	0.512000														131			36		0	0	1	0	0
PGBD4	161779	broad.mit.edu	37	15	34394945	34394945	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34394945C>A	uc001zho.3	+	0	672	c.213C>A	c.(211-213)cgC>cgA	p.R71R	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	71										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		ACTCAGGGCGCTCCATGAAAT	0.458000														95			8		1.06961e-07	1.15953e-07	1	1	0
FOXB2	442425	broad.mit.edu	37	9	79634736	79634736	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634736C>T	uc004ako.1	+	0	166	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	56					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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	p.R56H(1)		breast(1)|lung(8)|ovary(1)	10						GCACACACAGCGCTGGCAGAA	0.607000														109			27		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166827296	166827296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166827296C>T	uc003qvd.1	-	21	2250	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	RPS6KA2_uc011ego.1_Missense_Mutation_p.V599M|RPS6KA2_uc010kkl.1_Missense_Mutation_p.V599M|RPS6KA2_uc003qvb.1_Missense_Mutation_p.V688M|RPS6KA2_uc003qvc.1_Missense_Mutation_p.V696M|RPS6KA2_uc010kkk.1_Missense_Mutation_p.V120M	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	688					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ACCAGGTGCACGTCCTGTCGG	0.577000														79			8		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70333167	70333167	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70333167G>T	uc001oqc.3	-	20	3145	c.3033C>A	c.(3031-3033)ccC>ccA	p.P1011P	SHANK2_uc010rqn.2_Silent_p.P487P|SHANK2_uc001opz.3_Silent_p.P482P|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	698					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.G1011G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CGGCGGCAAAGGGGCTGCTGA	0.701000														235			58		1.46156e-29	1.83821e-29	1	1	0
MYADM	91663	broad.mit.edu	37	19	54377221	54377221	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377221C>T	uc002qcm.3	+	2	586	c.438C>T	c.(436-438)atC>atT	p.I146I	MYADM_uc002qcl.3_Silent_p.I146I|MYADM_uc002qcn.3_Silent_p.I146I|MYADM_uc002qco.3_Silent_p.I146I|MYADM_uc002qcp.3_Silent_p.I146I|MYADM_uc021vbb.1_Silent_p.I146I	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	146	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		TCTCCTGCATCGCGTGTGTGG	0.667000														211			38		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620437	26620437	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26620437T>G	uc001mqt.4	+	15	1708	c.1563T>G	c.(1561-1563)taT>taG	p.Y521*	ANO3_uc010rdr.2_Nonsense_Mutation_p.Y505*|ANO3_uc010rds.2_Nonsense_Mutation_p.Y360*|ANO3_uc010rdt.2_Nonsense_Mutation_p.Y375*	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	521						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AAGCCAAGTATTACAAGATGG	0.393000														46			8		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77044003	77044003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77044003G>A	uc002jwt.3	+	2	1055	c.973G>A	c.(973-975)Gac>Aac	p.D325N	C1QTNF1_uc002jwp.3_Missense_Mutation_p.D227N|C1QTNF1_uc002jwq.3_Missense_Mutation_p.D145N|C1QTNF1_uc002jwr.4_Missense_Mutation_p.D237N|C1QTNF1_uc002jws.3_Missense_Mutation_p.D227N	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	227						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577000														160			27		0	0	1	0	0
LOC441601	441601	broad.mit.edu	37	11	50252741	50252741	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:50252741C>T	uc001nhd.3	-	2		c.455G>A								Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA.																		TGTCTGTTCACGCATGATTCT	0.388000														57			11		0	0	1	0	0
CREB3L4	148327	broad.mit.edu	37	1	153945234	153945234	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153945234C>T	uc001fdm.1	+	4	826	c.558C>T	c.(556-558)acC>acT	p.T186T	CREB3L4_uc001fdn.3_Silent_p.T186T|CREB3L4_uc010pef.1_Silent_p.T39T|CREB3L4_uc001fdo.3_Silent_p.T166T|CREB3L4_uc001fdr.2_Silent_p.T186T|CREB3L4_uc001fdq.2_Silent_p.T166T	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	186					response to unfolded protein	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGTCAAACCCTGTTCCTGA	0.607000														44			13		0	0	1	0	0
CKMT2	1160	broad.mit.edu	37	5	80562074	80562074	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80562074G>T	uc003khc.4	+	10	1499	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.K419N|CKMT2_uc003khd.4_Missense_Mutation_p.K419N|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	419					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TTGGCAAAAAGTAAACTTTCC	0.383000														129			18		1.67942e-08	1.84125e-08	1	1	0
MST1R	4486	broad.mit.edu	37	3	49940299	49940299	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940299T>C	uc003cxy.4	-	0	1008	c.744A>G	c.(742-744)gaA>gaG	p.E248E	MST1R_uc011bdc.2_Silent_p.E248E|MST1R_uc011bdd.2_Silent_p.E248E|MST1R_uc011bde.1_Silent_p.E248E|MST1R_uc011bdf.1_Silent_p.E248E|MST1R_uc011bdg.2_Silent_p.E248E	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	248	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTGCACGTATTCAATACTGT	0.572000														127			21		0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154999185	154999185	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154999185A>G	uc001fgm.3	-	8	1429	c.1349T>C	c.(1348-1350)gTg>gCg	p.V450A	DCST2_uc009wpb.3_Non-coding_Transcript	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	450						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGACACCAACACAGGACCTGG	0.502000														115			15		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774697	14774697	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774697C>T	uc021ved.1	+	0	594	c.594C>T	c.(592-594)ggC>ggT	p.G198G	FAM84A_uc002rbz.2_Silent_p.G198G|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	198										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACGCCTGCGGCCACCTGGGCC	0.687000														14			6		0	0	1	0	0
PON2	5445	broad.mit.edu	37	7	95034793	95034793	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95034793C>T	uc003unv.3	-	8	1035	c.914G>A	c.(913-915)cGc>cAc	p.R305H	PON2_uc003unu.3_Missense_Mutation_p.R293H|PON2_uc010lfk.3_Non-coding_Transcript|PON2_uc003unw.3_Missense_Mutation_p.R218H	NM_000305	NP_000296	Q15165	PON2_HUMAN	Homo sapiens paraoxonase 2 (PON2), transcript variant 1, mRNA.	305					aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			GTTCTGGATGCGGAGAACCTA	0.433000														123			30		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131622774	131622774	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622774C>T	uc010tbm.2	+	25	3184	c.2625_splice	c.e25+1	p.L875_splice	GPR133_uc001uit.4_Splice_Site_p.L843_splice|GPR133_uc009zyo.3_Splice_Site_p.L125_splice|GPR133_uc009zyp.3_Splice_Site	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	843					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACTCGGACCTCGTGAGTGCAG	0.622000														80			13		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109859483	109859483	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109859483G>A	uc001dxm.2	-	16	2288	c.2239C>T	c.(2239-2241)Ccg>Tcg	p.P747S	SORT1_uc010ovi.2_Missense_Mutation_p.P610S	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	747	Interactions with LRPAP1 and NGFB.				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)		TGTTTTTCCGGACTCAAAAAG	0.373000														115			18		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47376251	47376251	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47376251T>G	uc002iov.4	-	5	1809	c.1345A>C	c.(1345-1347)Agc>Cgc	p.S449R	ZNF652_uc002iow.3_Missense_Mutation_p.S449R|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTGGTGAAGCTTTTGCCACAG	0.463000														85			21		0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404294	59404294	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:59404294T>C	uc003xtm.4	-	5	1318	c.1255A>G	c.(1255-1257)Aca>Gca	p.T419A		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	419					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTAGTCTTTGTCTTCCCGTTT	0.343000									Neonatal Giant Cell Hepatitis					130			39		0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145729820	145729820	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145729820G>T	uc003zdh.4	+	0	356	c.133G>T	c.(133-135)Gcc>Tcc	p.A45S	GPT_uc011llj.1_Missense_Mutation_p.A45S	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	45					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTGCAGCGAGCCTTGGAGCT	0.682000														74			6		3.59834e-05	3.75534e-05	1	1	0
PREX1	57580	broad.mit.edu	37	20	47274755	47274755	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47274755C>T	uc002xtw.1	-	16	1916	c.1893G>A	c.(1891-1893)caG>caA	p.Q631Q	PREX1_uc002xtv.1_5'Flank	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	631	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGTCCTCCTCCTGGGGCAGGA	0.672000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		488			148		0	0	1	0	0
GABRE	2564	broad.mit.edu	37	X	151129810	151129810	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151129810G>A	uc004ffi.3	-	4	645	c.591C>T	c.(589-591)ctC>ctT	p.L197L	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	197					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGCATGTGGAGTGAGCATC	0.522000														127			18		0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43853238	43853238	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43853238G>A	uc001cje.1	-	2	254	c.206C>T	c.(205-207)cCg>cTg	p.P69L	SZT2_uc001cjk.2_5'Flank|MED8_uc001cjg.4_Missense_Mutation_p.P69L|MED8_uc001cjf.4_5'UTR|SZT2_uc001cjh.3_5'Flank|SZT2_uc001cji.1_5'Flank|SZT2_uc009vws.1_5'Flank	NM_052877	NP_443109	Q96G25	MED8_HUMAN	Homo sapiens mediator complex subunit 8 (MED8), transcript variant 3, mRNA.	69					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACGGAACAGCGGTGTTTTTTC	0.463000														94			7		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141248692	141248692	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141248692G>A	uc003llp.3	-	1	462	c.345C>T	c.(343-345)atC>atT	p.I115I	PCDH1_uc011dbf.2_Silent_p.I93I|PCDH1_uc003llq.3_Silent_p.I115I	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	115	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCTCACGGTCGATGGAGGTCT	0.572000														91			22		0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44324264	44324264	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44324264A>G	uc002zcm.3	+	2	1208	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	NDUFV3_uc002zcn.3_Intron	NM_021075	NP_066553	P56181	NDUV3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa (NDUFV3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGCAATTTGGAGACAGTTCCT	0.562000														81			22		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511771	130511771	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130511771C>T	uc004bsc.3	-	4	1000	c.858G>A	c.(856-858)gaG>gaA	p.E286E	SH2D3C_uc010mxo.3_Silent_p.E126E|SH2D3C_uc004bry.3_Silent_p.E128E|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Silent_p.E218E|SH2D3C_uc004bsa.3_Silent_p.E129E	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	286	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGCTCTCCTGCTCAAACAGGT	0.592000														73			21		0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206106	13206106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206106C>T	uc003nah.2	+	7	1097	c.724C>T	c.(724-726)Cca>Tca	p.P242S	PHACTR1_uc011dir.2_Missense_Mutation_p.P311S|PHACTR1_uc010jpc.3_Missense_Mutation_p.P242S|PHACTR1_uc003nag.2_Missense_Mutation_p.P242S	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	242						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCCGCTACCTCCAAAGAAAGT	0.592000														135			18		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38537998	38537998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38537998G>A	uc002yvz.3	+	32	3587	c.3482G>A	c.(3481-3483)cGt>cAt	p.R1161H	TTC3_uc011aee.1_Missense_Mutation_p.R851H|TTC3_uc002ywa.3_Missense_Mutation_p.R1161H|TTC3_uc002ywb.3_Missense_Mutation_p.R1161H|TTC3_uc010gnf.3_Missense_Mutation_p.R926H|TTC3_uc002ywc.3_Missense_Mutation_p.R851H|TTC3_uc002ywd.1_Missense_Mutation_p.R225H	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1161					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GGATGCCCTCGTTTTGTTGTG	0.363000														234			27		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141533752	141533752	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141533752T>G	uc002tvj.1	-	32	6387	c.5415A>C	c.(5413-5415)aaA>aaC	p.K1805N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1805					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		TTCCGTCTCTTTTGCTGCAGG	0.383000										TSP Lung(27;0.18)				87			10		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36053540	36053540	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36053540C>T	uc002oal.1	-	4	246	c.217_splice	c.e4-1	p.G73_splice		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	73					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGAGAGGCCCTGGGACAGA	0.672000														36			7		0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	34017072	34017072	+	Silent	SNP	C	T	T	rs147991027		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34017072C>T	uc003ztq.1	-	1	188	c.75G>A	c.(73-75)acG>acA	p.T25T	UBAP2_uc011loc.1_5'UTR|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_5'UTR|UBAP2_uc011lof.1_5'UTR|UBAP2_uc011log.1_Silent_p.T24T|UBAP2_uc003ztr.2_5'UTR	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	25										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCTGTGGTTGCGTTGATTGTG	0.343000														107			9		0	0	1	0	0
C1orf9	51430	broad.mit.edu	37	1	172579371	172579371	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:172579371G>A	uc001giq.4	+	23	4053	c.3737G>A	c.(3736-3738)gGt>gAt	p.G1246D	C1orf9_uc009wwd.3_Missense_Mutation_p.G1202D|C1orf9_uc010pmn.2_Missense_Mutation_p.G875D|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	1246					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		GGAACATTTGGTGTTACAGCA	0.363000														61			16		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223929	42223929	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42223929C>T	uc002orl.3	+	6	1694	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	CEACAM5_uc002orj.1_Missense_Mutation_p.P524S	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	525	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CACCTGTGAACCTGAGGCTCA	0.567000														278			48		0	0	1	0	0
ZNF70	7621	broad.mit.edu	37	22	24086756	24086756	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24086756G>A	uc002zxs.3	-	1	1033	c.572C>T	c.(571-573)aCc>aTc	p.T191I	ZNF70_uc021wmu.1_Missense_Mutation_p.T191I	NM_021916	NP_068735	Q9UC06	ZNF70_HUMAN	Homo sapiens zinc finger protein 70 (ZNF70), mRNA.	191						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CTTCTCCCCGGTGTGGATGAT	0.617000														83			14		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42910490	42910490	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42910490G>T	uc002otr.3	-	6	2465	c.2188C>A	c.(2188-2190)Ctc>Atc	p.L730I	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	730					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTGAAGCAGAGGTTCCCGCCT	0.657000														110			26		9.80776e-20	1.19282e-19	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109352168	109352168	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109352168G>T	uc002tem.4	+	4	712	c.586G>T	c.(586-588)Gct>Tct	p.A196S		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	196					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						GAGGAACATAGCTTTGCGTTC	0.433000														446			161		3.97866e-83	5.08637e-83	1	1	0
MBNL1	4154	broad.mit.edu	37	3	152150554	152150554	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152150554G>A	uc003ezm.3	+	2	1183	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	MBNL1_uc003ezh.3_Missense_Mutation_p.A132T|MBNL1_uc003ezi.3_Missense_Mutation_p.A132T|MBNL1_uc003ezj.3_Missense_Mutation_p.A75T|MBNL1_uc003ezl.3_Missense_Mutation_p.A132T|MBNL1_uc003ezp.3_Missense_Mutation_p.A132T|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron|MBNL1_uc010hvp.3_Missense_Mutation_p.A40T	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	132					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCAGCAGCCGCCTTTAATCC	0.473000														279			82		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4213928	4213928	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4213928C>T	uc003smx.3	+	32	5014	c.4875C>T	c.(4873-4875)gcC>gcT	p.A1625A	SDK1_uc010kso.3_Silent_p.A901A|SDK1_uc003smy.3_Silent_p.A112A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1625	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTATGAAGCCGGGTCAGGCA	0.552000														366			94		0	0	1	0	0
SMAD7	4092	broad.mit.edu	37	18	46448237	46448237	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46448237G>A	uc002ldg.3	-	3	1073	c.786C>T	c.(784-786)tgC>tgT	p.C262C	SMAD7_uc002ldf.3_Silent_p.C74C|SMAD7_uc010xde.2_Silent_p.C47C|SMAD7_uc021ujr.1_Silent_p.C261C	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	262	MH2.				BMP signaling pathway|adherens junction assembly|artery morphogenesis|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	I-SMAD binding|activin binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	p.C262C(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ATGCCACCACGCACCAGTGTG	0.537000														106			20		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248005130	248005130	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248005130C>T	uc001idn.1	-	0	69	c.69G>A	c.(67-69)tgG>tgA	p.W23*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGGGCCTGCCATTCAAGAA	0.488000														87			6		0	0	1	0	0
FAM214A	56204	broad.mit.edu	37	15	52901701	52901701	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52901701C>T	uc010ugf.2	-	4	1565	c.1431G>A	c.(1429-1431)gaG>gaA	p.E477E	FAM214A_uc002acg.4_Silent_p.E470E|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.E382E	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA.	470																	AAGGATTAGTCTCTCCAACAG	0.413000														138			35		0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1497599	1497599	+	Silent	SNP	C	T	T	rs141377851	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1497599C>T	uc002qwr.3	+	10	1880	c.1794C>T	c.(1792-1794)tgC>tgT	p.C598C	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Silent_p.C598C|TPO_uc002qwx.3_Silent_p.C541C|TPO_uc002qwu.3_Silent_p.C541C|TPO_uc010yio.2_Silent_p.C425C|TPO_uc010yip.2_Silent_p.C598C|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	598					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGTTCTGCGGCCTGCCTC	0.577000														85			6		0	0	1	0	0
EXTL2	2135	broad.mit.edu	37	1	101342387	101342387	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101342387C>A	uc001dtk.1	-	3	804	c.467G>T	c.(466-468)aGc>aTc	p.S156I	EXTL2_uc001dtl.1_Missense_Mutation_p.S156I|EXTL2_uc010ouk.1_Missense_Mutation_p.S143I|EXTL2_uc001dtm.1_Missense_Mutation_p.S155I	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	156					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GTCTGGGGTGCTGATGAGTGT	0.358000														71			13		2.62699e-14	3.08368e-14	1	1	0
ADAMTS8	11095	broad.mit.edu	37	11	130281332	130281332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130281332G>A	uc001qgg.4	-	5	2088	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.T58M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	577	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.T577M(1)|p.T606M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GCATTCCTCCGTGTGGCATGA	0.567000														147			13		0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57799000G>A	uc010rjz.2	+	0	576	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498000														279			11		0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27677441	27677441	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677441C>T	uc001bnw.2	+	10	1359	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	SYTL1_uc001bnv.2_Missense_Mutation_p.R376W|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.2_Missense_Mutation_p.R388W	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	388					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGCAGCCCCGGGTGAGGCA	0.692000														109			14		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22328345	22328345	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22328345G>T	uc002dkk.3	+	10	914	c.758G>T	c.(757-759)aGc>aTc	p.S253I	POLR3E_uc002dkj.1_Missense_Mutation_p.S253I|POLR3E_uc002dkm.3_Missense_Mutation_p.S217I|POLR3E_uc010vbr.2_Missense_Mutation_p.S253I|POLR3E_uc002dkl.3_Missense_Mutation_p.S253I|POLR3E_uc010vbs.2_Missense_Mutation_p.S217I|POLR3E_uc010vbt.2_Missense_Mutation_p.S197I	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	253					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		ATGCCACCCAGCCAGGAGGAG	0.622000														250			59		1.07751e-37	1.36785e-37	1	1	0
PSG5	5673	broad.mit.edu	37	19	43679390	43679390	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43679390T>G	uc002ovu.3	-	3	1072	c.941A>C	c.(940-942)aAa>aCa	p.K314T	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.K314T	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	314	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGTCATGGATTTGGAGCTTTC	0.458000														353			69		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148687146	148687146	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148687146G>A	uc003lqh.3	+	6	848	c.717G>A	c.(715-717)caG>caA	p.Q239Q	AFAP1L1_uc003lqg.4_Silent_p.Q239Q|AFAP1L1_uc010jgy.3_Silent_p.Q239Q	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	239	PH 1.						protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCCAAGCAGCTGACGGTCA	0.592000														76			22		0	0	1	0	0
KLHL6	89857	broad.mit.edu	37	3	183210391	183210391	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183210391C>A	uc003flr.3	-	5	1513	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	485										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AACACTGAGTCTTGTCTGTGG	0.542000														110			26		2.00529e-23	2.48385e-23	1	1	0
PPP1R2P3	153743	broad.mit.edu	37	5	156277627	156277627	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156277627G>A	uc003lwf.1	+	0	79	c.54G>A	c.(52-54)aaG>aaA	p.K18K						Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 3 (PPP1R2P3), non-coding RNA.																		TGAAGAACAAGACCTCTACGA	0.617000														37			11		0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161133729	161133729	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161133729G>A	uc010pkc.2	+	8	1553	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	USP21_uc010pkd.2_Silent_p.T392T|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	392					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATCGCTCCACGACCTTCGAGG	0.552000														147			23		0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:657400C>T	uc001qii.1	+	8	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582000														99			20		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43779499	43779499	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43779499C>A	uc001ciu.3	+	13	2446	c.2269C>A	c.(2269-2271)Ctg>Atg	p.L757M	TIE1_uc010oke.2_Missense_Mutation_p.L712M|TIE1_uc009vwq.3_Missense_Mutation_p.L713M|TIE1_uc010okf.1_Missense_Mutation_p.L402M|TIE1_uc010okg.2_Missense_Mutation_p.L402M	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	757					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAAGAGGGCCTGGATCAGCA	0.642000														69			11		3.07112e-06	3.25591e-06	1	1	0
CHAT	1103	broad.mit.edu	37	10	50860033	50860033	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50860033C>A	uc001jhz.2	+	10	1768	c.1615C>A	c.(1615-1617)Ctc>Atc	p.L539I	CHAT_uc001jhv.1_Missense_Mutation_p.L421I|CHAT_uc001jhx.1_Missense_Mutation_p.L421I|CHAT_uc001jhy.1_Missense_Mutation_p.L421I|CHAT_uc001jia.2_Missense_Mutation_p.L457I|CHAT_uc010qgs.1_Missense_Mutation_p.L421I	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	539					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAGGTGGCCCTCCAGCTGGC	0.488000														70			5		0.014758	0.0149061	1	1	0
MYH8	4626	broad.mit.edu	37	17	10293915	10293915	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10293915T>A	uc002gmm.2	-	39	5765	c.5670A>T	c.(5668-5670)gaA>gaT	p.E1890D	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1890					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATTGGATTGTTCCTCCTAAG	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					140			30		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956988	38956988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38956988G>A	uc002oit.3	+	23	3258	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	RYR1_uc002oiu.3_Missense_Mutation_p.R1043H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1043	6 X approximate repeats.|B30.2/SPRY 2.		R -> C (in MHS1).		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)	CAGGCCGTGCGCACCCTCCTG	0.672000														35			8		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42658801	42658801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42658801C>T	uc011dur.2	+	46	5456	c.5158C>T	c.(5158-5160)Cga>Tga	p.R1720*	UBR2_uc011dus.2_Nonsense_Mutation_p.R1365*|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Nonsense_Mutation_p.R308*|UBR2_uc011duu.2_Nonsense_Mutation_p.R112*	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1720					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ATGCAAAGAGCGATTCAAGAA	0.438000														112			21		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410314	47410314	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47410314T>C	uc002zhu.1	+	12	1082	c.980T>C	c.(979-981)aTc>aCc	p.I327T		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	327	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	p.G326D(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGCGTGGCATCGACGGGGTG	0.657000														96			29		0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32572011	32572011	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32572011A>G	uc003cfb.4	-	9	1185	c.1081_splice	c.e9-1	p.F361_splice	DYNC1LI1_uc011axh.2_Splice_Site_p.F245_splice	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	361					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						CTCATGTACAAACTGAAATGA	0.303000														46			9		0	0	1	0	0
CD14	929	broad.mit.edu	37	5	140011662	140011662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140011662C>T	uc003lgi.2	-	1	1286	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CD14_uc003lgj.2_Missense_Mutation_p.D303N|CD14_uc021yej.1_Missense_Mutation_p.D303N|CD14_uc021yek.1_Missense_Mutation_p.D303N|CD14_uc021yel.1_Missense_Mutation_p.D172N	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	303				D -> E (in Ref. 5; AAC83816).	Toll signaling pathway|apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCTGAGATCGAGCACTCTG	0.602000														143			26		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11757669	11757669	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11757669G>A	uc002gne.3	+	49	9925	c.9857G>A	c.(9856-9858)cGc>cAc	p.R3286H	DNAH9_uc010coo.3_Missense_Mutation_p.R2580H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3286	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3286C(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACCCAAGCGCCAGGCACTG	0.562000														207			49		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087392	207087392	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087392G>T	uc001hey.3	-	1	264	c.85C>A	c.(85-87)Ctg>Atg	p.L29M	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.L29M|FAIM3_uc010psa.2_5'UTR	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	29					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					GATCCGCCCAGCTCCCCCTCT	0.537000														168			74		4.49761e-31	5.67013e-31	1	1	0
ATG7	10533	broad.mit.edu	37	3	11340278	11340278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340278G>A	uc003bwc.3	+	1	226	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ATG7_uc003bwd.3_Missense_Mutation_p.E37K|ATG7_uc011aum.2_Missense_Mutation_p.E37K	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	37					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						GAAGCTGAACGAGTATCGGCT	0.453000														224			40		0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55658776	55658776	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55658776T>C	uc010rip.2	+	6	1119	c.1027T>C	c.(1027-1029)Tgg>Cgg	p.W343R	TRIM51_uc010riq.2_Missense_Mutation_p.W200R	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	343	B30.2/SPRY.					intracellular	zinc ion binding										CAAATATTATTGGGAGGTTCA	0.433000														156			33		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016650	23016650	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016650T>A	uc002wsr.2	+	0	594	c.530T>A	c.(529-531)gTc>gAc	p.V177D		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	177					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCCTGTTGGTCACTCTCCCC	0.706000														229			44		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240706	1240706	+	Silent	SNP	C	T	T	rs149285920		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1240706C>T	uc003jby.2	+	6	1029	c.906C>T	c.(904-906)taC>taT	p.Y302Y		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	302					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)			CCTCCCTGTACGCGTCCATCG	0.592000														115			37		0	0	1	0	0
AUH	549	broad.mit.edu	37	9	93978386	93978386	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93978386G>A	uc004arf.4	-	8	932	c.897C>T	c.(895-897)gtC>gtT	p.V299V	AUH_uc004arg.4_Silent_p.V270V	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	299					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						TTACTAAATCGACCTGAGAAT	0.338000														68			13		0	0	1	0	0
AP5Z1	9907	broad.mit.edu	37	7	4820858	4820858	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4820858C>A	uc003sne.3	+	1	179	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AP5Z1_uc010ksp.3_Non-coding_Transcript	NM_014855	NP_055670	O43299	K0415_HUMAN	Homo sapiens KIAA0415 (KIAA0415), mRNA.	32					cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding										CTGTAAACTGCTGCAGGCGGA	0.582000														123			18		8.00594e-06	8.44607e-06	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624731	123624731	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624731A>C	uc010rzy.2	-	0	496	c.496T>G	c.(496-498)Ttc>Gtc	p.F166V		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F166F(1)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCCACAGAATGGCAACTGG	0.512000														139			27		0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29707995	29707995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29707995C>T	uc003afa.1	+	6	1751	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R518W|GAS2L1_uc003afd.1_Silent_p.S518S|GAS2L1_uc003afe.1_Silent_p.S518S	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	519					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						GCAGCTGTTCCGGCGCCTGGA	0.687000														273			80		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210308G>A	uc002taf.3	-	13	2034	c.1890C>T	c.(1888-1890)ccC>ccT	p.P630P	AFF3_uc002tag.3_Silent_p.P605P|AFF3_uc010fiq.1_Silent_p.P605P|AFF3_uc010yvr.1_Silent_p.P758P|AFF3_uc002tah.1_Silent_p.P630P	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	605					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751000														72			34		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108909	147108909	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108909G>A	uc011bno.2	-	3	1149	c.963C>T	c.(961-963)tgC>tgT	p.C321C	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Silent_p.C201C|ZIC4_uc021xff.1_Silent_p.C309C|ZIC4_uc003ewd.2_Silent_p.C271C|ZIC4_uc021xfg.1_Silent_p.C65C	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	271						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCACTTGTCGCAGCCCCGCA	0.642000														113			35		0	0	1	0	0
ESD	2098	broad.mit.edu	37	13	47345570	47345570	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:47345570G>T	uc001vbn.3	-	9	1013	c.830C>A	c.(829-831)gCt>gAt	p.A277D		NM_001984	NP_001975	P10768	ESTD_HUMAN	Homo sapiens esterase D (ESD), mRNA.	277						cytoplasmic membrane-bounded vesicle	S-formylglutathione hydrolase activity|carboxylesterase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	9		all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;2.66e-05)	Glutathione(DB00143)	CAGGTATTTAGCATGATGTCT	0.308000														101			12		0.00010058	0.000104357	1	1	0
SLC25A12	8604	broad.mit.edu	37	2	172648089	172648089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172648089G>A	uc002uhh.2	-	14	1546	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SLC25A12_uc010fqh.2_Missense_Mutation_p.A379V	NM_003705	NP_003696	O75746	CMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, Aralar), member 12 (SLC25A12), nuclear gene encoding mitochondrial protein, mRNA.	486					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	GAGGAAACACGCTTTGGCACC	0.448000														84			27		0	0	1	0	0
LACE1	246269	broad.mit.edu	37	6	108687502	108687502	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108687502C>T	uc003psj.3	+	5	900	c.714C>T	c.(712-714)gtC>gtT	p.V238V		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	238							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AAAACGGGGTCGTCGTTGTGG	0.373000														44			7		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51014508	51014508	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51014508G>A	uc003bmm.3	-	6	832	c.733C>T	c.(733-735)Cga>Tga	p.R245*	CPT1B_uc003bmk.4_Nonsense_Mutation_p.R245*|CPT1B_uc003bml.3_Nonsense_Mutation_p.R245*|CPT1B_uc003bmo.3_Nonsense_Mutation_p.R245*|CPT1B_uc011asa.2_Nonsense_Mutation_p.R211*|CPT1B_uc003bmn.3_Nonsense_Mutation_p.R245*|CPT1B_uc011asb.2_Nonsense_Mutation_p.R245*|CPT1B_uc003bmp.3_Nonsense_Mutation_p.R42*|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	245					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.R245*(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CTCCTGCCTCGAAGGTAGATG	0.582000											OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			29		0	0	1	0	0
FCGRT	2217	broad.mit.edu	37	19	50027917	50027917	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50027917A>G	uc002pog.2	+	3	977	c.755A>G	c.(754-756)aAc>aGc	p.N252S	FCGRT_uc002poe.2_Missense_Mutation_p.N252S|FCGRT_uc002pof.2_Missense_Mutation_p.N157S|FCGRT_uc010yax.2_3'UTR|FCGRT_uc002poh.2_Missense_Mutation_p.N112S|FCGRT_uc002poi.2_5'Flank|RCN3_uc002poj.3_5'Flank	NM_004107	NP_004098	P55899	FCGRN_HUMAN	Homo sapiens Fc fragment of IgG, receptor, transporter, alpha (FCGRT), transcript variant 2, mRNA.	252	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	MHC class I protein complex|integral to membrane	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCGGCCCCAACAGTGACGGA	0.632000														177			9		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73829384	73829384	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73829384G>A	uc002sje.1	+	19	12295	c.12184G>A	c.(12184-12186)Gtc>Atc	p.V4062I	ALMS1_uc002sjf.1_Missense_Mutation_p.V4020I|ALMS1_uc002sjh.1_Missense_Mutation_p.V3450I	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4062					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAAGTTAATAGTCCAGGAGAG	0.502000														84			32		0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32860298	32860298	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32860298G>A	uc003cff.3	+	0	789	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	242					multicellular organismal development	cytoplasm	zinc ion binding	p.P242P(2)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCGCGGCCCGCCGGGTCCCG	0.721000														130			25		0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929297	4929297	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4929297G>T	uc010qyq.2	+	0	698	c.698G>T	c.(697-699)aGg>aTg	p.R233M		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGCAGAGAGGCTTAAGGCC	0.473000														227			49		1.89013e-27	2.36805e-27	1	1	0
ENOSF1	55556	broad.mit.edu	37	18	706481	706481	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:706481C>T	uc010dkf.3	-	1	256	c.245G>A	c.(244-246)gGc>gAc	p.G82D	ENOSF1_uc002kku.4_Missense_Mutation_p.G61D|ENOSF1_uc002kkt.4_Missense_Mutation_p.A18T|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_5'UTR|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	61					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						AACTTCAGTGCCTTTTCCCAG	0.418000														152			33		0	0	1	0	0
SPG7	6687	broad.mit.edu	37	16	89619414	89619414	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89619414G>A	uc002fnj.3	+	13	1828	c.1807G>A	c.(1807-1809)Gcc>Acc	p.A603T	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_Missense_Mutation_p.A12T	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	603			A -> T.		cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GACAAACGCCGCCCTGGGCTT	0.602000														66			19		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49042371	49042371	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49042371G>A	uc003cvh.3	+	5	1314	c.965G>A	c.(964-966)gGg>gAg	p.G322E	P4HTM_uc003cvg.3_Missense_Mutation_p.G322E|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	322	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TATGGTGAGGGGGGCCACTAC	0.622000														160			33		0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101909574	101909574	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101909574C>T	uc010nod.3	+	2	1375	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.L245F|GPRASP1_uc004ejj.4_Missense_Mutation_p.L245F|GPRASP1_uc004eji.4_Missense_Mutation_p.L245F|GPRASP1_uc022cbd.1_Missense_Mutation_p.L245F	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	245						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TAACCAGGAGCTCTATATTGC	0.458000														211			63		0	0	1	0	0
HSD17B11	51170	broad.mit.edu	37	4	88278563	88278563	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88278563C>T	uc003hqp.2	-	4	796	c.563G>A	c.(562-564)aGc>aAc	p.S188N		NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 11 (HSD17B11), mRNA.	188					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		AGCAAACTTGCTTGAACTGAA	0.388000														41			12		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884802	24884802	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884802C>T	uc001wpf.4	+	8	4165	c.3847C>T	c.(3847-3849)Cgc>Tgc	p.R1283C		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1283					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GGGGGAGAACCGCCTGCTCAC	0.612000														217			51		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377222	77377222	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77377222C>T	uc004ajl.1	-	25	4603	c.4365G>A	c.(4363-4365)tgG>tgA	p.W1455*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.W1450*|TRPM6_uc022bib.1_Nonsense_Mutation_p.W1450*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.W411*	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1455					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGAAAATGCCCAGTTTACAT	0.473000														164			23		0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151749384	151749384	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151749384C>T	uc010ipj.3	-	29	5363	c.5119G>A	c.(5119-5121)Gcc>Acc	p.A1707T	LRBA_uc003ilt.4_Missense_Mutation_p.A366T|LRBA_uc003ilu.4_Missense_Mutation_p.A1707T	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	1707						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding	p.A1707V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TCACCAAGGGCTCCAAGGCAG	0.453000														175			28		0	0	1	0	0
PCMT1	5110	broad.mit.edu	37	6	150114741	150114741	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150114741C>T	uc003qna.3	+	4	561	c.528C>T	c.(526-528)gaC>gaT	p.D176D	PCMT1_uc003qnb.3_Silent_p.D176D|PCMT1_uc003qne.3_Silent_p.D176D|PCMT1_uc011eeg.2_Silent_p.D141D|PCMT1_uc003qnd.3_Silent_p.D141D|PCMT1_uc003qnf.3_Silent_p.D141D	NM_001252053	NP_001238982			Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 6, mRNA.											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TAGTAGATGACTCAGTAAATA	0.373000														50			19		0	0	1	0	0
ZBTB44	29068	broad.mit.edu	37	11	130106855	130106855	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130106855G>A	uc001qga.3	-	4	1795	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	ZBTB44_uc001qgb.4_Intron|ZBTB44_uc001qfx.3_Intron|ZBTB44_uc001qfz.3_Intron	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		TATATTCCCCGAAGGAAGTGA	0.483000														44			8		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38770385	38770385	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38770385A>G	uc003ciq.3	-	14	2288	c.2288T>C	c.(2287-2289)gTa>gCa	p.V763A		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	763					sensory perception	voltage-gated sodium channel complex		p.R762H(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGCTTGAATACGCGCAGCTG	0.493000														105			31		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133760702	133760702	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133760702C>T	uc004bzw.3	+	10	3028	c.3025C>T	c.(3025-3027)Cga>Tga	p.R1009*	ABL1_uc004bzv.3_Nonsense_Mutation_p.R1028*	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	1009	F-actin-binding.|Pro-rich.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CATATCAACCCGAGTGTCTCT	0.662000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									271			53		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943286	49943286	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49943286C>T	uc001ruh.1	+	8	1791	c.1531C>T	c.(1531-1533)Cgc>Tgc	p.R511C	KCNH3_uc010smj.1_Missense_Mutation_p.R451C	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	511					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GTACGCCCGCCGCTTTCTGTA	0.652000														150			65		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48607807	48607807	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48607807T>G	uc003gyh.1	-	10	1390	c.785A>C	c.(784-786)aAa>aCa	p.K262T	FRYL_uc003gyk.3_Missense_Mutation_p.K262T	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAGTGCATGTTTTATATCTTT	0.308000														111			6		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410085	139410085	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139410085C>T	uc004chz.3	-	10	1753	c.1753G>A	c.(1753-1755)Gcc>Acc	p.A585T	NOTCH1_uc004cia.1_5'Flank	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	585	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGAAGGTGGCGACGCCGTCC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				52			10		0	0	1	0	0
PNMA5	114824	broad.mit.edu	37	X	152159032	152159032	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152159032C>T	uc022chn.1	-	0	1111	c.1111G>A	c.(1111-1113)Gca>Aca	p.A371T	PNMA5_uc010ntx.3_Missense_Mutation_p.A371T|PNMA5_uc010ntw.3_Missense_Mutation_p.A371T|PNMA5_uc004fgy.4_Missense_Mutation_p.A371T|PNMA5_uc022chm.1_Missense_Mutation_p.A371T	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	371					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGACCTTGCCTGCACGGTG	0.587000														147			44		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290828	114290828	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114290828A>G	uc003ynu.3	-	2	666	c.507T>C	c.(505-507)taT>taC	p.Y169Y	CSMD3_uc003ynt.3_Silent_p.Y129Y|CSMD3_uc011lhx.2_Silent_p.Y169Y|CSMD3_uc010mcx.1_Silent_p.Y169Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	169	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACCTTCGTAATATACCTTAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				70			6		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60581569	60581569	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60581569C>T	uc002ybs.3	-	6	2220	c.2220G>A	c.(2218-2220)ccG>ccA	p.P740P		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	740					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCCATACCAGCGGTGTGGGTT	0.657000														40			6		0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131709434	131709434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131709434G>A	uc004bwr.3	-	0	579	c.149C>T	c.(148-150)gCa>gTa	p.A50V	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	50					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity	p.L49L(1)		breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GGCCTGCACTGCGAGGGCCAC	0.607000														122			38		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574109	28574109	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574109G>A	uc003xgz.1	+	2	1126	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	178						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CGGGGCTGCCGGCTACACAAC	0.597000														163			43		0	0	1	0	0
SEH1L	81929	broad.mit.edu	37	18	12955494	12955494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12955494G>A	uc002krq.3	+	2	333	c.195G>A	c.(193-195)tgG>tgA	p.W65*	SEH1L_uc002krr.3_Nonsense_Mutation_p.W65*	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	65					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGTGACATGGGCCCATCCTG	0.413000														105			22		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11317062	11317062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11317062G>A	uc001asd.3	-	3	553	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	144					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAAATTCCACGTACTCAGCGG	0.577000														70			12		0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126094013	126094013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126094013C>T	uc001lhp.3	-	4	773	c.640G>A	c.(640-642)Gca>Aca	p.A214T	OAT_uc001lhr.3_Missense_Mutation_p.A76T|OAT_uc001lhq.3_Non-coding_Transcript	NM_000274	NP_001165285	P04181	OAT_HUMAN	Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	214					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	ACCTCCAGTGCGGGCAGATCA	0.403000														122			13		0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72241933	72241933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:72241933C>T	uc001dfw.3	-	2	685	c.457G>A	c.(457-459)Gga>Aga	p.G153R	NEGR1_uc001dfv.3_Missense_Mutation_p.G25R|NEGR1_uc010oqs.2_Missense_Mutation_p.G153R	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	153	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane		p.E152D(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		ACGTTGGTTCCTTCATTGACG	0.388000														39			6		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62125340	62125340	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62125340C>T	uc002jdz.2	-	18	2520	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	803	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CGTGCAATGACGTCTTCTATA	0.438000														48			10		0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004962	248004962	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248004962G>T	uc001idn.1	-	0	237	c.237C>A	c.(235-237)ccC>ccA	p.P79P		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAGGAGAAGGGGCACAGTGG	0.592000														61			22		1.55795e-14	1.83136e-14	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35191585	35191585	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35191585C>T	uc002yta.1	+	23	3242	c.2974C>T	c.(2974-2976)Cga>Tga	p.R992*	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Nonsense_Mutation_p.R871*|ITSN1_uc002ysy.3_Nonsense_Mutation_p.R987*|ITSN1_uc002ysx.3_Nonsense_Mutation_p.R950*|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Nonsense_Mutation_p.R987*|ITSN1_uc010gmg.3_Nonsense_Mutation_p.R950*|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Nonsense_Mutation_p.R992*|ITSN1_uc010gmi.3_Nonsense_Mutation_p.R955*|ITSN1_uc002ytb.1_Nonsense_Mutation_p.R987*|ITSN1_uc010gmk.3_Nonsense_Mutation_p.R955*|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Nonsense_Mutation_p.R987*|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Nonsense_Mutation_p.R926*|ITSN1_uc021wip.1_Nonsense_Mutation_p.R881*|ITSN1_uc002ytg.1_Nonsense_Mutation_p.R45*	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	992					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAGTCTAAAGCGAGTAGCCTC	0.423000														54			5		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62172627	62172627	+	Missense_Mutation	SNP	C	T	T	rs139360881	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62172627C>T	uc002yfi.1	-	6	1243	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	401	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGAGAAGACACGATAATTGGC	0.617000														325			61		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086912	144086912	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086912T>C	uc010khi.3	+	5	1408	c.1209T>C	c.(1207-1209)agT>agC	p.S403S	PHACTR2_uc003qjq.4_Silent_p.S392S|PHACTR2_uc010khh.3_Silent_p.S312S|PHACTR2_uc003qjr.4_Silent_p.S323S	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	392							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTGGCTTAAGTGTTAACAGAG	0.458000														158			31		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175231	1175231	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1175231C>T	uc009xhm.1	+	13	1608	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	WDR37_uc001igf.1_Missense_Mutation_p.R478W|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	478										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TGGGTTTGACCGGCAAGCCAT	0.502000														93			18		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43716283	43716283	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43716283C>T	uc011aev.2	+	14	1925	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	ABCG1_uc002zam.3_Silent_p.F572F|ABCG1_uc002zan.3_Silent_p.F596F|ABCG1_uc002zao.3_Silent_p.F591F|ABCG1_uc002zap.3_Silent_p.F594F|ABCG1_uc002zaq.3_Silent_p.F606F|ABCG1_uc002zar.3_Silent_p.F605F|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	606	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.F596F(2)|p.F606F(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GGTATGGGTTCGAAGGGGTCA	0.587000														91			25		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38923316	38923316	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38923316T>A	uc003jln.2	+	12	2232	c.1830T>A	c.(1828-1830)gcT>gcA	p.A610A	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	610	Fibronectin type-III 3.				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)					AAAGGATTGCTTGTTTATTAG	0.343000														67			15		0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201722711	201722711	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201722711T>C	uc002uwe.2	-	5	831	c.650A>G	c.(649-651)gAc>gGc	p.D217G	CLK1_uc010zhi.1_Missense_Mutation_p.D259G|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.D66G	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	217	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ACTGTTGGGGTCTGTTGTATT	0.358000														129			18		0	0	1	0	0
RNF8	9025	broad.mit.edu	37	6	37336474	37336474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37336474C>T	uc003onq.4	+	2	648	c.455C>T	c.(454-456)aCt>aTt	p.T152I	RNF8_uc003onr.4_Missense_Mutation_p.T152I|RNF8_uc011dtx.2_Missense_Mutation_p.T84I	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	152					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GAATTGAGAACTAAAAGGAAA	0.358000														75			17		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35045017	35045017	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35045017C>T	uc003zvw.3	+	1	2420	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	C9orf131_uc003zvu.3_Silent_p.S749S|C9orf131_uc003zvv.3_Silent_p.S724S|C9orf131_uc003zvx.3_Silent_p.S762S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	797										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			TGCGGCAGAGCCCTGCCTCCA	0.577000														417			77		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66297358	66297358	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66297358G>T	uc001oii.1	+	13	1597	c.1519G>T	c.(1519-1521)Gcc>Tcc	p.A507S	BBS1_uc001oil.1_Missense_Mutation_p.A341S|BBS1_uc010rpg.1_Missense_Mutation_p.A373S|BBS1_uc001oij.1_Missense_Mutation_p.A470S|BBS1_uc001oik.1_Missense_Mutation_p.A394S|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.A138S	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	470					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						CTACCTGCAGGCCCTCGAGTC	0.667000									Bardet-Biedl syndrome					78			15		1.99824e-07	2.15697e-07	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11170509	11170509	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11170509C>T	uc010dxp.3	+	33	5076	c.4716C>T	c.(4714-4716)ggC>ggT	p.G1572G	SMARCA4_uc010dxo.3_Silent_p.G1604G|SMARCA4_uc002mqf.4_Silent_p.G1572G|SMARCA4_uc010dxq.3_Silent_p.G1539G|SMARCA4_uc010dxr.3_Silent_p.G1538G|SMARCA4_uc002mqj.4_Silent_p.G1542G|SMARCA4_uc010dxs.3_Silent_p.G1541G|SMARCA4_uc002mqh.4_Silent_p.G662G	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1572	Poly-Glu.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				acagtgaaggcgaggagagtg	0.607000			"""F, N, Mis"""		NSCLC									53			16		0	0	1	0	0
GPR64	10149	broad.mit.edu	37	X	19028891	19028891	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19028891C>T	uc004cyx.3	-	16	1347	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	GPR64_uc004cze.3_Missense_Mutation_p.V339I|GPR64_uc004cza.3_Missense_Mutation_p.V347I|GPR64_uc004czf.3_Missense_Mutation_p.V331I|GPR64_uc004cyy.3_Missense_Mutation_p.V366I|GPR64_uc004czc.3_Missense_Mutation_p.V353I|GPR64_uc004cyz.3_Missense_Mutation_p.V355I|GPR64_uc004czb.3_Missense_Mutation_p.V369I|GPR64_uc004czd.3_Missense_Mutation_p.V345I|GPR64_uc004cyw.3_Missense_Mutation_p.V353I|GPR64_uc010nfj.3_Missense_Mutation_p.V339I	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	369					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	p.S369S(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGTTGACGATGTCTATA	0.438000														109			36		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092737	27092737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27092737C>T	uc001bmv.1	+	8	3131	c.2758C>T	c.(2758-2760)Caa>Taa	p.Q920*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q920*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q920*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q537*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	920					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAATATGAATCAAGGGGGCAT	0.483000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									76			22		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46629754	46629754	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46629754C>A	uc002inn.3	-	0	483	c.83G>T	c.(82-84)gGc>gTc	p.G28V	HOXB3_uc010wlm.2_Intron|HOXB3_uc010dbf.3_Missense_Mutation_p.G28V|HOXB3_uc010dbg.3_Missense_Mutation_p.G28V|HOXB3_uc002ino.3_Missense_Mutation_p.G28V|HOXB3_uc010wlk.2_Intron|HOXB3_uc010wll.2_Intron	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	28					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GACATCGAAGCCGAAGCCATT	0.652000														125			20		7.41877e-09	8.17068e-09	1	1	0
TRIM2	23321	broad.mit.edu	37	4	154217082	154217082	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154217082G>A	uc003inh.2	+	5	1489	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	TRIM2_uc003ing.2_Silent_p.P441P	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	441						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTAAGTCCCCGGGGAGCGGCC	0.532000														100			20		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83937191	83937191	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937191C>T	uc003pjy.3	-	10	1403	c.1138G>A	c.(1138-1140)Gct>Act	p.A380T	ME1_uc011dzb.2_Missense_Mutation_p.A305T|ME1_uc011dzc.2_Missense_Mutation_p.A214T	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	380					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCAATTGCAGCAACTCCTAAT	0.368000														102			20		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128528546	128528546	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528546C>A	uc002tpg.2	-	1	209	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	WDR33_uc002tph.2_Nonsense_Mutation_p.E4*|WDR33_uc002tpi.2_Nonsense_Mutation_p.E4*	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	4					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GAACCAATTTCTGTAGCCATG	0.418000														64			4		2.56e-06	2.71868e-06	1	1	0
CCT7	10574	broad.mit.edu	37	2	73471724	73471724	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73471724C>A	uc002siz.3	+	5	642	c.499C>A	c.(499-501)Ctg>Atg	p.L167M	CCT7_uc010yrf.2_Missense_Mutation_p.L123M|CCT7_uc010yrh.2_Missense_Mutation_p.L39M|CCT7_uc010yrg.2_Missense_Mutation_p.L67M|CCT7_uc010yri.2_Missense_Mutation_p.L80M|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	167					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding	p.T167N(1)		breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GAGCTCCAAGCTGATCTCCCA	0.488000														43			10		7.48243e-07	8.00842e-07	1	1	0
SCG2	7857	broad.mit.edu	37	2	224463355	224463355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463355G>A	uc021vxk.1	-	0	646	c.646C>T	c.(646-648)Cgt>Tgt	p.R216C	SCG2_uc002vnm.3_Missense_Mutation_p.R216C	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	216					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCCTCTCACGTTTCTGGTTG	0.423000														225			48		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39797612	39797612	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39797612T>C	uc021olw.1	+	0	672	c.672T>C	c.(670-672)ctT>ctC	p.L224L	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	1789	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACACAGACTTACAGTGGAAG	0.478000														125			7		0	0	1	0	0
KCNA5	3741	broad.mit.edu	37	12	5153586	5153586	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5153586G>A	uc001qni.3	+	0	502	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	91						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						CTCGACGGCCGCCTCCCGAGG	0.731000														55			6		0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197541787	197541787	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197541787C>T	uc011bul.1	+	1	276	c.271C>T	c.(271-273)Cga>Tga	p.R91*	LRCH3_uc003fyj.1_Nonsense_Mutation_p.R91*|LRCH3_uc011bum.1_Nonsense_Mutation_p.R91*|LRCH3_uc011bun.1_Intron	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	91						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AGACCTGTCGCGAAATCGCCT	0.299000														37			8		0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26234693	26234693	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26234693T>C	uc003nhd.3	-	0	524	c.469A>G	c.(469-471)Aag>Gag	p.K157E		NM_005320	NP_005311	P16402	H13_HUMAN	Homo sapiens histone cluster 1, H1d (HIST1H1D), mRNA.	157					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TTTACCTTCTTAGGAGTCTTT	0.552000														211			46		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111709256	111709256	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111709256T>G	uc003puy.4	-	7	1236	c.895A>C	c.(895-897)Aaa>Caa	p.K299Q	REV3L_uc003pux.4_Missense_Mutation_p.K221Q|REV3L_uc003puz.4_Missense_Mutation_p.K221Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	299					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAAATTTTTTTTCACTTTCT	0.289000								DNA polymerases (catalytic subunits)						57			10		0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4510584	4510584	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4510584C>A	uc002mar.1	-	2	3346	c.3346G>T	c.(3346-3348)Ggc>Tgc	p.G1116C	PLIN4_uc010dub.1_Missense_Mutation_p.G140C	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1116						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTCCCTGCCTGGGGCGGCC	0.657000														39			10		2.17888e-05	2.28139e-05	1	1	0
GPR17	2840	broad.mit.edu	37	2	128408687	128408687	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128408687C>T	uc010yzn.2	+	3	1073	c.462C>T	c.(460-462)agC>agT	p.S154S	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.S154S|GPR17_uc010yzo.2_Silent_p.S126S|GPR17_uc002tpd.3_Silent_p.S126S	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	154						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled	p.S154N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCATCAGCGCCGACCGTT	0.607000														313			36		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997397	144997397	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997397G>A	uc003zaf.1	-	30	7281	c.7111C>T	c.(7111-7113)Cgc>Tgc	p.R2371C	PLEC_uc003zab.1_Missense_Mutation_p.R2234C|PLEC_uc003zac.1_Missense_Mutation_p.R2238C|PLEC_uc003zad.2_Missense_Mutation_p.R2234C|PLEC_uc003zae.1_Missense_Mutation_p.R2202C|PLEC_uc003zag.1_Missense_Mutation_p.R2212C|PLEC_uc003zah.2_Missense_Mutation_p.R2220C|PLEC_uc003zaj.2_Missense_Mutation_p.R2261C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2371	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ATCTGCACGCGCACCGAGAAG	0.642000														103			29		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5935119	5935119	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5935119C>A	uc001alq.2	-	20	3127	c.2859G>T	c.(2857-2859)caG>caT	p.Q953H		NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	953					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCGATGACCTGTAGGTCCC	0.672000														53			13		2.27111e-07	2.44751e-07	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40104536	40104536	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40104536G>A	uc003guy.4	+	3	1409	c.1071G>A	c.(1069-1071)ccG>ccA	p.P357P	N4BP2_uc010ifq.3_Silent_p.P277P|N4BP2_uc010ifr.3_Silent_p.P277P	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	357	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGCCTCCTCCGCCACCTCCAC	0.512000														144			33		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484190	96484190	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96484190C>A	uc001kjv.4	+	6	1375	c.1049C>A	c.(1048-1050)gCt>gAt	p.A350D	CYP2C19_uc001kjw.4_Missense_Mutation_p.A291D|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	350					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TACACAGATGCTGTGGTGCAC	0.498000														225			46		1.00001e-27	1.25358e-27	1	1	0
BAK1	578	broad.mit.edu	37	6	33543127	33543127	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33543127G>A	uc003oes.3	-	3	598	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	BAK1_uc003oer.3_Silent_p.L30L|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Silent_p.L100L|BAK1_uc003oeu.3_Silent_p.L41L|BAK1_uc011drj.1_Silent_p.L100L	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	100					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GTGGGCTGCAGGTGCTGCAAC	0.592000														139			33		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70938438	70938438	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70938438C>T	uc001swb.4	-	19	4769	c.4739G>A	c.(4738-4740)aGc>aAc	p.S1580N	PTPRB_uc010sto.2_Missense_Mutation_p.S1490N|PTPRB_uc010stp.2_Missense_Mutation_p.S1490N|PTPRB_uc001swc.4_Missense_Mutation_p.S1798N|PTPRB_uc001swa.4_Missense_Mutation_p.S1710N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1580					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTCGAATGCTGATTCTGAA	0.368000														30			8		0	0	1	0	0
ZNF319	57567	broad.mit.edu	37	16	58031620	58031620	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58031620G>T	uc002emx.1	-	1	1173	c.550C>A	c.(550-552)Ccc>Acc	p.P184T	ZNF319_uc021tjd.1_Missense_Mutation_p.P184T	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGTGCTGCGGGAAGCGACGGG	0.632000														534			124		4.26851e-46	5.44029e-46	1	1	0
SPSB4	92369	broad.mit.edu	37	3	140785480	140785480	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:140785480C>T	uc003ett.3	+	1	779	c.534C>T	c.(532-534)ctC>ctT	p.L178L	SPSB4_uc010hum.3_Silent_p.L178L	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	178	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						ACTCGCTGCTCGTGGTGCTGG	0.667000														57			8		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12978092	12978092	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12978092G>A	uc003bxt.2	-	2	475	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	IQSEC1_uc003bxu.3_Missense_Mutation_p.R34C|IQSEC1_uc011auw.1_Missense_Mutation_p.R142C	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	156	IQ.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGCGCAAGCGCTCGAAGTTC	0.577000														62			7		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339215	36339215	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339215C>T	uc002oby.3	-	9	1411	c.1255G>A	c.(1255-1257)Gcc>Acc	p.A419T		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	419	Ig-like C2-type 4.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACTGAAGGCCTCACATGTG	0.592000														182			10		0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207131926	207131926	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207131926G>A	uc001hfa.4	-	7	2169	c.1669C>T	c.(1669-1671)Ctc>Ttc	p.L557F	FCAMR_uc001hfb.3_3'UTR|FCAMR_uc009xca.2_3'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	512						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TCATCCTGGAGCATCTTTCTT	0.537000														119			32		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905023	23905023	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905023C>T	uc001uon.2	-	9	13581	c.12992G>A	c.(12991-12993)cGg>cAg	p.R4331Q	SACS_uc001uoo.2_Missense_Mutation_p.R4184Q|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4331	J.		R -> Q (in SACS).		cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAATACAACCGCCTAATAAT	0.353000														218			27		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89020601	89020601	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89020601C>A	uc003hrg.3	-	12	1861	c.1368_splice	c.e12-1	p.I456_splice	ABCG2_uc003hrh.3_Splice_Site_p.I456_splice|ABCG2_uc003hrf.3_Splice_Site_p.I324_splice	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	456	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GTATTCATGTCTATAGAACAA	0.383000														84			11		9.70103e-10	1.08264e-09	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140222350	140222350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140222350G>A	uc003lhs.2	+	0	1444	c.1444G>A	c.(1444-1446)Gcg>Acg	p.A482T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.A482T	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	496	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGCGAGACGCGGACGCGCA	0.657000														351			60		0	0	1	0	0
IRAK1BP1	134728	broad.mit.edu	37	6	79595126	79595126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79595126G>A	uc003pim.3	+	1	452	c.347G>A	c.(346-348)aGg>aAg	p.R116K	IRAK1BP1_uc010kbg.1_Non-coding_Transcript|IRAK1BP1_uc003pin.2_Missense_Mutation_p.R29K	NM_001010844	NP_001010844	Q5VVH5	IKBP1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 binding protein 1 (IRAK1BP1), mRNA.	116					I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		AAGGATTTTAGGAGAGTGGAA	0.318000														61			12		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62026114	62026114	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62026114G>A	uc002jds.1	-	15	3078	c.3001C>T	c.(3001-3003)Cgc>Tgc	p.R1001C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1001					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGGCCAGCGCTGCACGCAG	0.642000														63			12		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283139	238283139	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238283139G>C	uc002vwl.2	-	7	3880	c.3595C>G	c.(3595-3597)Cag>Gag	p.Q1199E	COL6A3_uc002vwo.2_Missense_Mutation_p.Q993E|COL6A3_uc010znj.1_Missense_Mutation_p.Q592E|COL6A3_uc002vwq.3_Missense_Mutation_p.Q993E|COL6A3_uc002vwr.3_Missense_Mutation_p.Q792E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1199	Nonhelical region.|VWFA 6.				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)		GAGATGACCTGTTGGACGGTC	0.617000														143			35		0	0	1	0	0
KRTAP19-8	728299	broad.mit.edu	37	21	32410635	32410635	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32410635C>T	uc010glt.3	-	0	161	c.128G>A	c.(127-129)gGc>gAc	p.G43D		NM_001099219	NP_001092689	Q3LI54	KR198_HUMAN	Homo sapiens keratin associated protein 19-8 (KRTAP19-8), mRNA.	43						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						GAATCCATAGCCTCCGTAGCC	0.532000														269			23		0	0	1	0	0
UBE2J1	51465	broad.mit.edu	37	6	90053428	90053428	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90053428C>A	uc003pnc.3	-	1	410	c.79G>T	c.(79-81)Gat>Tat	p.D27Y		NM_016021	NP_057105	Q9Y385	UB2J1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2, J1, U (UBE2J1), mRNA.	27						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TGGTAATGATCTGTTGGATCT	0.269000														36			12		9.05144e-12	1.03561e-11	1	1	0
DCST1	149095	broad.mit.edu	37	1	155020587	155020587	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155020587G>A	uc001fgn.2	+	15	1924	c.1810G>A	c.(1810-1812)Gcc>Acc	p.A604T	DCST1_uc010pes.2_Missense_Mutation_p.A579T|LOC100505666_uc021pam.1_Intron|LOC100505666_uc021pan.1_Intron|ADAM15_uc001fgq.1_5'Flank	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	604						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAAAGAGCAGCCTTCACCAA	0.572000														79			29		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921375	78921375	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921375C>T	uc002bed.1	-	4	1384	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.V242V	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	424					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V424V(2)		endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ATGCCTCCTGCACATCCTGTC	0.592000														102			22		0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2817777	2817777	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2817777A>C	uc002crk.3	+	10	7797	c.7248A>C	c.(7246-7248)caA>caC	p.Q2416H	SRRM2_uc002crj.1_Missense_Mutation_p.Q2320H|SRRM2_uc002crl.1_Missense_Mutation_p.Q2416H|SRRM2_uc010bsu.1_Missense_Mutation_p.Q2320H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2416	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCCAAGCCAATCTAGGATGA	0.607000														141			33		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28227565	28227565	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28227565C>T	uc003nkt.3	+	0	468	c.416C>T	c.(415-417)cCg>cTg	p.P139L	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	139										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GTGTGGGGGCCGTCTCCAAAG	0.532000														240			36		0	0	1	0	0
ATMIN	23300	broad.mit.edu	37	16	81077122	81077122	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81077122C>A	uc002ffz.1	+	3	1037	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	ATMIN_uc002fga.2_Missense_Mutation_p.A182D|ATMIN_uc010vnn.1_Missense_Mutation_p.A111D|ATMIN_uc002fgb.1_Missense_Mutation_p.A182D	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	340	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GCCACAGGGGCTGTGCACTTA	0.522000														173			53		6.31075e-24	7.82795e-24	1	1	0
DSCAML1	57453	broad.mit.edu	37	11	117308099	117308099	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117308099G>A	uc001prh.1	-	25	4641	c.4639C>T	c.(4639-4641)Ctc>Ttc	p.L1547F		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1487	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGGTGAAGAGGTGTTGGTCT	0.592000														165			32		0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43873540	43873540	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43873540G>T	uc001zrw.3	-	8	1028	c.824C>A	c.(823-825)tCt>tAt	p.S275Y	PPIP5K1_uc021sjw.1_Missense_Mutation_p.S275Y|PPIP5K1_uc001zrx.2_Missense_Mutation_p.S275Y|PPIP5K1_uc001zry.4_Missense_Mutation_p.S275Y|PPIP5K1_uc001zrz.1_Missense_Mutation_p.S275Y|PPIP5K1_uc021sjy.1_Missense_Mutation_p.S275Y|PPIP5K1_uc021sjz.1_Missense_Mutation_p.S275Y|PPIP5K1_uc010udr.2_Missense_Mutation_p.S275Y	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA.	275					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CAAAGCTGGAGATTTTCTAGC	0.493000														151			39		2.46787e-29	3.1035e-29	1	1	0
C17orf79	55352	broad.mit.edu	37	17	30180005	30180005	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30180005C>T	uc002hgp.3	-	2	319	c.211G>A	c.(211-213)Gag>Aag	p.E71K	C17orf79_uc010css.3_Non-coding_Transcript	NM_018405	NP_060875	Q9NQ92	COPR5_HUMAN	Homo sapiens chromosome 17 open reading frame 79 (C17orf79), mRNA.	71					histone H4-R3 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_cancers(10;4.54e-07)|all_hematologic(16;0.0216)|Acute lymphoblastic leukemia(14;0.0255)|Myeloproliferative disorder(56;0.0393)|Ovarian(249;0.1)				TGGGTGCCCTCACCCCGGGCA	0.517000														332			65		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51239168	51239168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51239168G>A	uc001wyi.3	-	8	1023	c.832C>T	c.(832-834)Cga>Tga	p.R278*	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Nonsense_Mutation_p.R278*|NIN_uc001wyk.3_Nonsense_Mutation_p.R278*|NIN_uc001wyo.3_Nonsense_Mutation_p.R278*|NIN_uc001wyp.1_Nonsense_Mutation_p.R240*	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	278					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)					GTGGTACGTCGTCCACTCTCA	0.498000			T	PDGFRB	MPD									55			9		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107638873	107638873	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107638873C>A	uc003vev.2	-	1	511	c.350G>T	c.(349-351)aGc>aTc	p.S117I	LAMB1_uc003vew.2_Missense_Mutation_p.S93I|LAMB1_uc003vex.3_Missense_Mutation_p.S93I|LAMB1_uc010ljn.1_Missense_Mutation_p.S179I	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	93	Laminin N-terminal.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGAGATGGCTGTCAGGATT	0.423000														114			17		4.7546e-09	5.25358e-09	1	1	0
MTMR14	64419	broad.mit.edu	37	3	9726338	9726338	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9726338G>A	uc003brz.3	+	10	1185	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	MTMR14_uc003bsa.3_Missense_Mutation_p.R345H|MTMR14_uc003bsb.3_Missense_Mutation_p.R345H|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Missense_Mutation_p.R99H|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	345						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCCCTCCTGCGCCTTTCCTTG	0.587000														135			25		0	0	1	0	0
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114916863	114916863	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114916863C>T	uc003kre.3	-	3	985	c.598G>A	c.(598-600)Gag>Aag	p.E200K	TMED7-TICAM2_uc003krd.3_3'UTR|TMED7-TICAM2_uc003krc.3_Missense_Mutation_p.E31K|TMED7-TICAM2_uc021ycq.1_Missense_Mutation_p.E31K	NM_001164468	NP_001157940	Q86XR7	TCAM2_HUMAN	Homo sapiens TMED7-TICAM2 readthrough (TMED7-TICAM2), transcript variant 1, mRNA.	31	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity										GAATCTGACTCATGATATCCT	0.443000														192			51		0	0	1	0	0
IFNK	56832	broad.mit.edu	37	9	27524894	27524894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:27524894G>A	uc022bez.1	+	0	560	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	MOB3B_uc003zqn.3_Intron|IFNK_uc003zqp.3_Missense_Mutation_p.R187Q	NM_020124	NP_064509	Q9P0W0	IFNK_HUMAN	Homo sapiens interferon, kappa (IFNK), mRNA.	187					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAGATTGTCCGAGTGGAAATC	0.398000														56			8		0	0	1	0	0
WNT9A	7483	broad.mit.edu	37	1	228109546	228109546	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228109546G>T	uc001hri.2	-	3	859	c.771C>A	c.(769-771)acC>acA	p.T257T		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	257					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.T256T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGCTTCATTGGTGGTGCTGC	0.677000														263			19		8.04996e-18	9.68579e-18	1	1	0
AGAP3	116988	broad.mit.edu	37	7	150837093	150837093	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150837093C>T	uc003wjg.1	+	12	1697	c.1694C>T	c.(1693-1695)tCc>tTc	p.S565F	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Missense_Mutation_p.S64F|AGAP3_uc003wjk.1_5'UTR	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	529	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GTACTCAGTTCCAGCCCCAAG	0.652000														19			4		0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24976656	24976656	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24976656G>T	uc001wpp.1	-	1	145	c.115C>A	c.(115-117)Ctg>Atg	p.L39M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	39	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ACAATTTCCAGGTAGGCCATG	0.517000														220			58		1.74971e-23	2.16752e-23	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38781150	38781150	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38781150C>T	uc003ciq.3	-	13	2136	c.2136G>A	c.(2134-2136)atG>atA	p.M712I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	712					sensory perception	voltage-gated sodium channel complex		p.M712I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTTTGAAGACCATTTCAGCAG	0.433000														81			16		0	0	1	0	0
HDX	139324	broad.mit.edu	37	X	83724000	83724000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83724000C>T	uc011mqv.2	-	3	978	c.731G>A	c.(730-732)tGt>tAt	p.C244Y	HDX_uc004eel.2_Missense_Mutation_p.C186Y|HDX_uc004eek.2_Missense_Mutation_p.C244Y	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	244						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTTTGCCCACATAAGTTATG	0.428000														173			45		0	0	1	0	0
TRAF4	9618	broad.mit.edu	37	17	27075073	27075073	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27075073C>T	uc002hcs.3	+	3	447	c.339C>T	c.(337-339)tgC>tgT	p.C113C	TRAF4_uc002hcq.1_Silent_p.C113C	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	113					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			TCATTCCCTGCCCTAATCGCT	0.587000														115			33		0	0	1	0	0
APCDD1L	164284	broad.mit.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57036492G>A	uc010zzp.1	-	4	1217	c.893C>T	c.(892-894)tCg>tTg	p.S298L	APCDD1L_uc002xze.1_Missense_Mutation_p.S287L	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	287						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687000														34			10		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66254796	66254796	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66254796G>A	uc001oig.1	+	4	618	c.556G>A	c.(556-558)Gac>Aac	p.D186N	DPP3_uc001oif.1_Missense_Mutation_p.D186N|DPP3_uc010rpe.1_Missense_Mutation_p.D175N	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	186					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						ATTGGCCCAGGACTTTCTGGA	0.537000														103			27		0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150840658	150840658	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150840658T>G	uc003wjg.1	+	16	2507	c.2504T>G	c.(2503-2505)gTt>gGt	p.V835G	AGAP3_uc003wje.1_Missense_Mutation_p.V504G|AGAP3_uc003wjj.1_Missense_Mutation_p.V334G|AGAP3_uc003wjk.1_Missense_Mutation_p.V253G	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	799					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.V835I(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ATGGCCAACGTTGTCTTCACG	0.567000														179			38		0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38006170	38006170	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006170C>T	uc003xkv.1	-	1	431	c.167G>A	c.(166-168)aGc>aAc	p.S56N		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	56					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GAGTAGAGAGCTCCGCCGCCG	0.642000														113			21		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94373174	94373174	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94373174C>T	uc001kic.3	+	7	1138	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	277	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGTTCTGGAGCTGTTGATAAG	0.378000														53			11		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4386911	4386911	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4386911G>A	uc002cwc.1	+	5	1027	c.961G>A	c.(961-963)Gtg>Atg	p.V321M		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	321					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGGCCACTTTGTGTCCCACGA	0.652000														70			16		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233507831	233507831	+	Missense_Mutation	SNP	C	T	T	rs149965923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233507831C>T	uc001hvt.4	+	5	1861	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	KIAA1804_uc001hvs.1_Missense_Mutation_p.R534W	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	534					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	p.R534Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CTTGGACAAACGGCGGAGCCT	0.542000														185			9		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29090053	29090053	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29090053C>T	uc003adu.1	-	12	1500	c.1428G>A	c.(1426-1428)acG>acA	p.T476T	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.T255T|CHEK2_uc010gvh.1_Silent_p.T385T|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.T519T|CHEK2_uc003adv.1_Silent_p.T447T|CHEK2_uc003adx.1_Silent_p.T255T	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	476	Protein kinase.		T -> K (in prostate cancer; somatic mutation).		DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CTTCTTCTGTCGTAAAACGTG	0.458000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						306			23		0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1615981	1615981	+	Missense_Mutation	SNP	G	A	A	rs41275434	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1615981G>A	uc002wfm.1	-	3	1078	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	338	Ig-like C1-type 2.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TTTGCTGACCGCCAGCTGCCC	0.507000														159			34		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119559878	119559878	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119559878C>T	uc001txa.2	+	5	856	c.468C>T	c.(466-468)tcC>tcT	p.S156S		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	156	Lys-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGTTTAGCTCCTCTAGCCCAA	0.373000														69			14		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287329	46287329	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46287329G>A	uc001van.1	+	2	249	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SPERT_uc001vao.2_Missense_Mutation_p.E21K	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	57						cytoplasmic membrane-bounded vesicle		p.E57K(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGGCACAGCCGAACCCTTCCC	0.647000														107			20		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69327568	69327568	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69327568T>G	uc003hdz.4	+	1	105	c.41T>G	c.(40-42)gTt>gGt	p.V14G		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	14					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AGGAAAAGAGTTTGTTGGGAA	0.418000														410			90		0	0	1	0	0
ZER1	10444	broad.mit.edu	37	9	131495800	131495800	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131495800C>A	uc004bwa.1	-	14	2581	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	716					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.K716K(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAGGGCAGTACTTGTCCGCTG	0.567000											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		42			9		0.0477658	0.0480153	1	1	0
SYT3	84258	broad.mit.edu	37	19	51128446	51128446	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51128446G>A	uc002pst.3	-	6	2314	c.1680C>T	c.(1678-1680)ccC>ccT	p.P560P	SYT3_uc002psv.3_Silent_p.P560P|SYT3_uc010ycd.2_Silent_p.P560P	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	560						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P560L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		AGTGCTCCACGGGCTTGCGGG	0.677000														42			5		0	0	1	0	0
C20orf118	140711	broad.mit.edu	37	20	35504596	35504596	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35504596C>T	uc002xgg.1	+	0	27	c.19C>T	c.(19-21)Cgt>Tgt	p.R7C	C20orf118_uc021wcz.1_Missense_Mutation_p.R7C	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	7										kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CCTCCGCTGGCGTTACACTCG	0.632000														222			36		0	0	1	0	0
EFHD2	79180	broad.mit.edu	37	1	15755181	15755181	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15755181G>A	uc001awh.2	+	3	761	c.684G>A	c.(682-684)cgG>cgA	p.R228R		NM_024329	NP_077305	Q96C19	EFHD2_HUMAN	Homo sapiens EF-hand domain family, member D2 (EFHD2), mRNA.	228						membrane raft				large_intestine(1)|skin(1)	2		Renal(390;0.00145)|Breast(348;0.00173)|Colorectal(325;0.00215)|all_lung(284;0.00366)|Lung NSC(340;0.00395)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)|Hepatocellular(190;0.152)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.59e-07)|COAD - Colon adenocarcinoma(227;3.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000119)|KIRC - Kidney renal clear cell carcinoma(229;0.00251)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGAAGCAGCGGAAAGCGGCCT	0.652000														21			4		0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11686037	11686037	+	Missense_Mutation	SNP	C	T	T	rs146196342	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11686037C>T	uc002msg.4	-	4	912	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	BC039523_uc002msf.3_Intron|ACP5_uc002msh.4_Missense_Mutation_p.V256M|ACP5_uc002msi.4_Missense_Mutation_p.V256M|ACP5_uc002msj.4_Missense_Mutation_p.V256M	NM_001611	NP_001602	P13686	PPA5_HUMAN	Homo sapiens acid phosphatase 5, tartrate resistant (ACP5), transcript variant 4, mRNA.	256					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						CCACTCAGCACGTAGCCCACG	0.587000														105			23		0	0	1	0	0
TPTEP1	387590	broad.mit.edu	37	22	17178531	17178531	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17178531A>G	uc002zls.1	+	2		c.613A>G								Homo sapiens transmembrane phosphatase with tensin homology pseudogene 1 (TPTEP1), non-coding RNA.																		GTAGCGGACAAAGTTCCGGGA	0.587000														95			16		0	0	1	0	0
IFI30	10437	broad.mit.edu	37	19	18285994	18285994	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18285994A>T	uc002nic.1	+	1	350	c.277A>T	c.(277-279)Atc>Ttc	p.I93F	PIK3R2_uc002nib.1_Non-coding_Transcript	NM_006332	NP_006323	P13284	GILT_HUMAN	Homo sapiens interferon, gamma-inducible protein 30 (IFI30), mRNA.	93					antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						GGTCATGGAGATCCTCAATGT	0.607000														25			6		0	0	1	0	0
ZFP3	124961	broad.mit.edu	37	17	4996027	4996027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4996027G>A	uc002gaq.3	+	1	1353	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	ZFP3_uc021tog.1_Missense_Mutation_p.V410I	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TCACCTTATTGTCCACCAGAG	0.433000														95			7		0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961621	99961621	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99961621C>A	uc011lgx.2	+	2	1225	c.804C>A	c.(802-804)atC>atA	p.I268I	OSR2_uc010mbn.2_Silent_p.I147I|OSR2_uc003yir.3_Silent_p.I147I|OSR2_uc003yiq.3_Silent_p.I147I	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	147					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GTAGCCCCATCTCGGGCCTCA	0.542000														359			16		6.31663e-08	6.86475e-08	1	1	0
CD97	976	broad.mit.edu	37	19	14517876	14517876	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14517876G>A	uc002myl.3	+	17	2591	c.2211G>A	c.(2209-2211)gcG>gcA	p.A737A	CD97_uc002mym.3_Silent_p.A688A|CD97_uc002myn.3_Silent_p.A644A	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	737					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCGCAGGGCGCTGACCATCA	0.647000														222			14		0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356113	42356113	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356113C>T	uc001wvm.3	+	2	1483	c.285C>T	c.(283-285)ttC>ttT	p.F95F	LRFN5_uc010ana.3_Silent_p.F95F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	95						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATGCTTTCGCTGACCTAC	0.348000										HNSCC(30;0.082)				79			13		0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118454554	118454554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118454554C>T	uc009zag.3	+	4	803	c.601C>T	c.(601-603)Cgt>Tgt	p.R201C	ARCN1_uc001ptq.3_Missense_Mutation_p.R160C|ARCN1_uc010ryg.2_Missense_Mutation_p.R72C	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	160					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGCTGAGATGCGTCGTAAAGC	0.443000														141			12		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130788766	130788766	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130788766C>A	uc003kvn.2	-	20	3387	c.3181G>T	c.(3181-3183)Gct>Tct	p.A1061S	RAPGEF6_uc003kvp.2_Missense_Mutation_p.A1111S|RAPGEF6_uc003kvo.2_Missense_Mutation_p.A1066S|RAPGEF6_uc010jdi.2_Missense_Mutation_p.A1061S|RAPGEF6_uc010jdj.2_Missense_Mutation_p.A1061S|RAPGEF6_uc003kvq.3_Missense_Mutation_p.A778S|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.A1061S	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1061	Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AACATCATAGCTGGGTCCATG	0.343000														92			14		4.14922e-12	4.76557e-12	1	1	0
EIF4A3	9775	broad.mit.edu	37	17	78120716	78120716	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78120716C>T	uc010wuc.2	-	1	118	c.45G>A	c.(43-45)aaG>aaA	p.K15K	EIF4A3_uc002jxs.3_Silent_p.K15K	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	15					mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TGAGCAGCCGCTTTCGCGCCG	0.652000														92			31		0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10146033	10146033	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10146033C>A	uc003buz.3	-	1	651	c.426G>T	c.(424-426)gaG>gaT	p.E142D	C3orf24_uc003bva.2_Missense_Mutation_p.E142D|C3orf24_uc021wsy.1_Missense_Mutation_p.E142D	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	142										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GAATCTGAGGCTCCTTCAGTC	0.488000														182			9		1.76689e-08	1.93511e-08	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3248806	3248806	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3248806C>T	uc004crg.4	-	2	354	c.197G>A	c.(196-198)aGc>aAc	p.S66N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	66						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCCTGTATGCTATTAAACCT	0.373000														38			7		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65694733	65694733	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65694733C>T	uc002aou.1	-	3	866	c.656G>A	c.(655-657)cGc>cAc	p.R219H		NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	219	Ig-like C2-type 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GAAGTGCTGGCGAGCTGAGTT	0.622000														10			3		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32495260	32495260	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32495260G>A	uc003amc.3	+	11	1621	c.1371G>A	c.(1369-1371)caG>caA	p.Q457Q	SLC5A1_uc011alz.2_Silent_p.Q330Q	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	457					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ATTACATCCAGTCCATCACCA	0.493000														323			79		0	0	1	0	0
MIA2	117153	broad.mit.edu	37	14	39706205	39706205	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39706205G>T	uc001wux.3	+	1	389	c.195G>T	c.(193-195)gaG>gaT	p.E65D	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	65	SH3.					extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		AGGGAGAAGAGATATCTGTTT	0.363000														51			7		0.00307968	0.00313564	1	1	0
CEP97	79598	broad.mit.edu	37	3	101476949	101476949	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101476949G>A	uc003dvk.1	+	8	1526	c.1499G>A	c.(1498-1500)aGt>aAt	p.S500N	CEP97_uc010hpm.1_Missense_Mutation_p.S466N|CEP97_uc011bhf.1_Missense_Mutation_p.S441N|CEP97_uc003dvl.1_Missense_Mutation_p.S196N|CEP97_uc003dvm.1_Missense_Mutation_p.S338N	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	500	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATAACCACAGTCTTACATTT	0.358000														180			10		0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100963751	100963751	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100963751C>T	uc001dtf.2	+	13	1897	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Missense_Mutation_p.A412V|CDC14A_uc009wed.1_Missense_Mutation_p.A177V|CDC14A_uc001dtg.4_Missense_Mutation_p.A470V|CDC14A_uc009wee.3_Missense_Mutation_p.A470V	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	470					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTTCGGGTGCCACTGTAAGA	0.468000														161			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640548	179640548	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179640548C>T	uc021vsy.1	-	27	6268	c.6043G>A	c.(6043-6045)Gct>Act	p.A2015T	TTN_uc021vsz.1_Missense_Mutation_p.A1969T|TTN_uc021vta.1_Missense_Mutation_p.A1969T|TTN_uc021vtb.1_Missense_Mutation_p.A1969T|TTN_uc002unb.2_Missense_Mutation_p.A2015T|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2015							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)			AGCTCCACAGCGGTAATGGCT	0.453000														212			48		0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	118975655	118975655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118975655C>T	uc003ibx.3	+	1	993	c.590C>T	c.(589-591)cCt>cTt	p.P197L	NDST3_uc011cgf.1_Missense_Mutation_p.P197L|NDST3_uc003ibw.3_Missense_Mutation_p.P197L	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	197	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TGTATTAATCCTCATTCTCCA	0.358000														146			30		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191127	68191127	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68191127C>T	uc001ont.3	+	13	3273	c.3198C>T	c.(3196-3198)cgC>cgT	p.R1066R	LRP5_uc009ysg.3_Silent_p.R476R	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1066	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTGGGGACCGCGACAAGCCCA	0.677000														184			43		0	0	1	0	0
IAH1	285148	broad.mit.edu	37	2	9621566	9621566	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9621566C>T	uc002qzr.3	+	3	461	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IAH1_uc002qzs.3_Silent_p.C32C|IAH1_uc002qzt.3_Silent_p.C32C|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	145					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGAACAGTGCATCATACAAG	0.512000														64			7		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159456869	159456869	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456869G>A	uc003qrz.3	-	9	2518	c.2186C>T	c.(2185-2187)tCg>tTg	p.S729L	TAGAP_uc011eft.2_Missense_Mutation_p.S666L|TAGAP_uc003qsa.3_Missense_Mutation_p.S551L	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	729					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTAAATATACGATTCTTTGGC	0.468000														101			19		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40662041	40662041	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40662041G>A	uc001zlk.1	+	7	3817	c.3728G>A	c.(3727-3729)aGc>aAc	p.S1243N		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1243					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCTGGCCCCAGCCCCAAAACC	0.682000														87			11		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58238764	58238764	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58238764C>T	uc002qpz.4	-	0	232	c.133G>A	c.(133-135)Gcg>Acg	p.A45T	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_5'UTR|ZNF671_uc010yhf.2_5'UTR	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCCACCCGCGCGGAGTCCGTT	0.682000														63			20		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27464813	27464813	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27464813G>C	uc002rji.3	+	38	6080	c.5918G>C	c.(5917-5919)aGc>aCc	p.S1973T	CAD_uc010eyw.3_Missense_Mutation_p.S1910T	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1973	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TATGAAGTGAGCACACGGACC	0.592000														126			6		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24406591	24406591	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24406591G>A	uc001bin.4	-	19	2664	c.2501C>T	c.(2500-2502)aCa>aTa	p.T834I	MYOM3_uc001bim.4_Missense_Mutation_p.T491I|MYOM3_uc001bio.3_Missense_Mutation_p.T834I	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	834	Fibronectin type-III 5.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGATAGCCTGTGACAGGCCC	0.627000														157			13		0	0	1	0	0
CYBRD1	79901	broad.mit.edu	37	2	172411148	172411148	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:172411148G>A	uc002ugy.4	+	3	862	c.672G>A	c.(670-672)tgG>tgA	p.W224*	CYBRD1_uc002ugz.4_Missense_Mutation_p.E155K	NM_024843	NP_079119	Q53TN4	CYBR1_HUMAN	Homo sapiens cytochrome b reductase 1 (CYBRD1), transcript variant 1, mRNA.	224					cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GACCGCAATGGAAACGTCCTA	0.498000														61			15		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6077578	6077578	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6077578G>A	uc002wmr.3	-	7	1849	c.1060C>T	c.(1060-1062)Cta>Tta	p.L354L	FERMT1_uc002wmq.3_5'Flank|FERMT1_uc010gbt.3_Silent_p.L97L|FERMT1_uc002wms.3_Silent_p.L354L|FERMT1_uc002wmt.3_Silent_p.L97L	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	354	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCACCTTCTAGGGTTACTTCC	0.423000														253			70		0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249343	3249343	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3249343G>A	uc021qcj.1	-	0	684	c.684C>T	c.(682-684)tgC>tgT	p.C228C	MRGPRE_uc001lxq.4_Silent_p.C228C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	228						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGGCAGGCCGCAGAAGAGGA	0.662000														30			7		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125555516	125555516	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125555516A>G	uc011lim.1	+	1	375	c.290A>G	c.(289-291)tAc>tGc	p.Y97C	NDUFB9_uc003yrg.4_Missense_Mutation_p.Y97C	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	97					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	TACGATTGCTACAAGGTAGGT	0.493000														106			5		0	0	1	0	0
SEC61G	23480	broad.mit.edu	37	7	54825203	54825203	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54825203T>G	uc003tqf.3	-	1	170	c.79A>C	c.(79-81)Aaa>Caa	p.K27Q	SEC61G_uc003tqg.3_Missense_Mutation_p.K27Q	NM_001012456	NP_055117	P60059	SC61G_HUMAN	Homo sapiens Sec61 gamma subunit (SEC61G), transcript variant 2, mRNA.	27					protein targeting to ER	endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|lung(5)	6	Esophageal squamous(2;7.55e-08)|Breast(14;0.0654)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)			CTATCAGGTTTAGTGCATCTT	0.353000														91			20		0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96233472	96233472	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96233472G>A	uc004atw.3	+	1	549	c.524G>A	c.(523-525)aGa>aAa	p.R175K	FAM120A_uc004atv.3_Missense_Mutation_p.R175K|FAM120A_uc004atx.3_5'UTR|FAM120A_uc004aty.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	175						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGTTTCTGCAGAGAGAATGGT	0.463000														106			24		0	0	1	0	0
TRIP6	7205	broad.mit.edu	37	7	100465482	100465482	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100465482G>T	uc003uww.3	+	2	280	c.110_splice	c.e2-1	p.A37_splice	TRIP6_uc010lhk.2_Intron|TRIP6_uc022aiv.1_Intron|TRIP6_uc022ait.1_Splice_Site|TRIP6_uc022aiu.1_Intron	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	37					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCTCAACCCAGCACTCCAGCC	0.632000														368			76		6.14238e-36	7.78477e-36	1	1	0
MRPL47	57129	broad.mit.edu	37	3	179316509	179316509	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179316509G>A	uc003fjz.3	-	3	378	c.356C>T	c.(355-357)gCc>gTc	p.A119V	MRPL47_uc003fka.3_Missense_Mutation_p.A9V|MRPL47_uc003fkb.3_Missense_Mutation_p.A99V	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	119					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			CTGCCGCTTGGCCTCCTGCTC	0.428000														118			34		0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748845	42748845	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42748845C>A	uc002yzf.1	+	1	116	c.12C>A	c.(10-12)gcC>gcA	p.A4A	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	4					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGTCTAAGGCCCACAAGCCTT	0.507000														154			37		2.04263e-09	2.27038e-09	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124333230	124333230	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124333230G>T	uc001lgk.1	+	6	342	c.236_splice	c.e6-1	p.G79_splice	DMBT1_uc001lgl.1_Splice_Site_p.G79_splice|DMBT1_uc001lgm.1_Splice_Site_p.G79_splice|DMBT1_uc021qaf.1_Splice_Site_p.G79_splice|DMBT1_uc021qag.1_Splice_Site_p.G79_splice|DMBT1_uc021qah.1_Splice_Site_p.G79_splice|DMBT1_uc009xzz.1_Splice_Site_p.G79_splice|DMBT1_uc010qtx.1_Splice_Site_p.G79_splice|DMBT1_uc009yaa.1_Splice_Site	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	79					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCACCCTGCAGGTTCTCTGAT	0.567000														263			44		1.41504e-22	1.74518e-22	1	1	0
ADAM20	8748	broad.mit.edu	37	14	70991330	70991330	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70991330T>G	uc021rvs.1	-	0	295	c.295A>C	c.(295-297)Atc>Ctc	p.I99L	ADAM20_uc001xme.3_Missense_Mutation_p.I99L	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	49					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CCCCTGCTGATCACCTTCAAA	0.517000														115			42		0	0	1	0	0
TEKT1	83659	broad.mit.edu	37	17	6733612	6733612	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6733612G>A	uc002gdt.3	-	1	194	c.84C>T	c.(82-84)gaC>gaT	p.D28D	TEKT1_uc010vth.2_5'UTR	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	28					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				ACCTTTGAGCGTCTGCTCTGT	0.468000														104			13		0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114968227	114968227	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114968227C>T	uc001eew.3	-	8	1623	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	TRIM33_uc010owr.2_Silent_p.Q103Q|TRIM33_uc010ows.2_Silent_p.Q121Q|TRIM33_uc001eex.3_Silent_p.Q513Q	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	513					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		GGAGTCGAAGCTGTGCTAAGT	0.458000			T	RET	papillary thyroid									278			58		0	0	1	0	0
SLC10A3	8273	broad.mit.edu	37	X	153716810	153716810	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153716810G>T	uc022cig.1	-	0	470	c.470C>A	c.(469-471)cCc>cAc	p.P157H	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Missense_Mutation_p.P128H|SLC10A3_uc004flq.3_Missense_Mutation_p.P157H|SLC10A3_uc004flp.3_Missense_Mutation_p.P157H	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	157					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					AATCAGTGTGGGCGGGGCCTC	0.647000														220			64		3.40165e-17	4.07711e-17	1	1	0
ALPPL2	251	broad.mit.edu	37	2	233274417	233274417	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274417G>A	uc002vss.4	+	10	1487	c.1434G>A	c.(1432-1434)gcG>gcA	p.A478A		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	478					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CCTTCATAGCGCACGTCATGG	0.751000														78			24		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98592415	98592415	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592415C>T	uc003upp.3	+	65	10420	c.10211C>T	c.(10210-10212)gCg>gTg	p.A3404V	TRRAP_uc011kis.2_Missense_Mutation_p.A3375V|TRRAP_uc003upr.3_Missense_Mutation_p.A3110V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3404					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCGGCGGGCGCAGGCCACT	0.572000														356			62		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775354	72775354	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775354C>T	uc002llw.2	+	7	5730	c.5677C>T	c.(5677-5679)Ctg>Ttg	p.L1893L		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1893					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCTGCAGACGCTGGCCATGGC	0.682000														62			11		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372370	43372370	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372370C>A	uc002ovd.1	-	4	1264	c.1126G>T	c.(1126-1128)Gga>Tga	p.G376*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Nonsense_Mutation_p.G283*|PSG3_uc002ova.2_Nonsense_Mutation_p.G283*|PSG3_uc002ouz.2_Nonsense_Mutation_p.G376*|PSG3_uc002ovb.3_Nonsense_Mutation_p.G376*	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	376	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGCTTTTGTCCTGGTAGCTGA	0.453000														336			68		9.64103e-21	1.17973e-20	1	1	0
KIAA1462	57608	broad.mit.edu	37	10	30317872	30317872	+	Missense_Mutation	SNP	C	T	T	rs78646257	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30317872C>T	uc009xle.2	-	2	1342	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	KIAA1462_uc001iux.3_Missense_Mutation_p.R402H|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.R264H	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	402	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGAGGCAAGCGGGGGCTCAC	0.587000														240			53		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551397	27551397	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27551397C>T	uc002rju.1	-	15	2624	c.2227G>A	c.(2227-2229)Gct>Act	p.A743T	MPV17_uc002rjt.3_5'Flank|GTF3C2_uc010eyy.1_Missense_Mutation_p.A187T|GTF3C2_uc002rjv.1_Missense_Mutation_p.A732T|GTF3C2_uc002rjw.1_Missense_Mutation_p.A732T	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	732						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAATATAGCAGCAATGAGC	0.423000														108			33		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707366	7707366	+	Silent	SNP	C	T	T	rs143108973	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707366C>T	uc010xjr.2	+	9	924	c.879C>T	c.(877-879)gaC>gaT	p.D293D	STXBP2_uc002mha.4_Silent_p.D282D|STXBP2_uc002mhb.4_Silent_p.D279D|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	282					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.R292C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TCTTGCTGGACGAGGACGATG	0.662000														379			80		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41726619	41726619	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41726619G>A	uc010ehj.3	+	1	354	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	AXL_uc010ehi.1_Missense_Mutation_p.R55Q|AXL_uc010ehk.3_Missense_Mutation_p.R55Q	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	55	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGCACCCTTCGGTGTCAGCTC	0.637000														46			14		0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60042453	60042453	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60042453C>T	uc002izo.3	-	19	4835	c.4758G>A	c.(4756-4758)ggG>ggA	p.G1586G		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1586					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATGTCTGTTGCCCTCCTAGCT	0.453000														80			14		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541219	12541219	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12541219T>C	uc002mtu.3	-	3	1965	c.1767A>G	c.(1765-1767)gaA>gaG	p.E589E		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	589					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						ATTGTGGACATTCATAGGATT	0.413000														110			31		0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48183836	48183836	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48183836A>G	uc002phh.4	+	5	1603	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	GLTSCR1_uc002phi.4_Missense_Mutation_p.N228S	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	470							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CCGGGCCAGAACCAGTTCCTA	0.721000														55			7		0	0	1	0	0
SCO1	6341	broad.mit.edu	37	17	10595270	10595270	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10595270T>C	uc002gmr.4	-	3	635	c.574A>G	c.(574-576)Act>Gct	p.T192A		NM_004589	NP_004580	O75880	SCO1_HUMAN	Homo sapiens SCO cytochrome oxidase deficient homolog 1 (yeast) (SCO1), nuclear gene encoding mitochondrial protein, mRNA.	192					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCTGGCAGAGTTGTAATGCTA	0.393000														55			11		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22927925	22927925	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22927925C>T	uc001bfx.1	+	15	2987	c.2862C>T	c.(2860-2862)ggC>ggT	p.G954G		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	954	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCGCTGCGGGCGGATACTCCT	0.706000														152			35		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25495362	25495362	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25495362C>T	uc011djw.2	+	15	1612	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	LRRC16A_uc010jpy.3_Missense_Mutation_p.S415F	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	415					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GTACCTCCATCTTTCAAGCAA	0.373000														58			9		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134072528	134072528	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134072528T>G	uc003iha.3	+	0	2059	c.1233T>G	c.(1231-1233)aaT>aaG	p.N411K	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.N411K	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	411	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N411S(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CCTTTAAGAATTACTACACCA	0.607000														460			96		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18022454	18022454	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18022454C>A	uc021trm.1	+	0	559	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	MYO15A_uc021trl.1_Missense_Mutation_p.R114S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	114	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTTCCCAGGCCGCCGTGGCTA	0.617000														91			18		3.52763e-06	3.73571e-06	1	1	0
CYP39A1	51302	broad.mit.edu	37	6	46610004	46610004	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46610004C>T	uc003oyf.1	-	1	413	c.209G>A	c.(208-210)gGa>gAa	p.G70E	CYP39A1_uc011dwa.1_Missense_Mutation_p.G70E|CYP39A1_uc010jzd.1_5'UTR	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	70					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						CATTCGGTTTCCCATAGCAAA	0.318000														35			9		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884825	13884825	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884825G>T	uc002ksp.1	-	1	870	c.693C>A	c.(691-693)tgC>tgA	p.C231*	MC2R_uc021uhs.1_Nonsense_Mutation_p.C231*	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	231					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGGGGCCCAGCAGAAGATGA	0.557000														99			23		3.62473e-10	4.06567e-10	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60504005	60504005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60504005G>A	uc002izv.2	+	2	566	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	METTL2A_uc002izw.3_Missense_Mutation_p.R47Q	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			GCCACCTACCGAATACTGGAG	0.413000														14			6		0	0	1	0	0
MFSD9	84804	broad.mit.edu	37	2	103353247	103353247	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103353247T>C	uc002tcb.2	-	0	91	c.23A>G	c.(22-24)gAc>gGc	p.D8G	TMEM182_uc002tcc.4_5'Flank|TMEM182_uc002tcd.4_5'Flank|MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_5'UTR	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	8					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGAGTTCATGTCCCAGTGACC	0.721000														149			18		0	0	1	0	0
ZNF295	49854	broad.mit.edu	37	21	43411126	43411126	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43411126G>T	uc021wjo.1	-	0	3079	c.3079C>A	c.(3079-3081)Ctt>Att	p.L1027I	ZNF295_uc002yzz.4_Missense_Mutation_p.L826I|ZNF295_uc002zab.4_Missense_Mutation_p.L1027I|ZNF295_uc002yzy.4_Missense_Mutation_p.L1027I|ZNF295_uc002zaa.4_Missense_Mutation_p.L1027I	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	1027					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TGGTAAAAAAGGGTGTCTGAT	0.483000														131			35		7.16026e-08	7.77809e-08	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70972947	70972947	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70972947T>C	uc003pfg.4	-	19	1554	c.1395_splice	c.e19+1	p.P465_splice	COL9A1_uc003pfe.4_Splice_Site_p.P38_splice|COL9A1_uc003pff.4_Splice_Site_p.P222_splice	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	465	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						aataCTTTACTGGAGGTCCTT	0.318000														39			13		0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114156189	114156189	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114156189T>C	uc001vtu.4	+	4	1300	c.939T>C	c.(937-939)agT>agC	p.S313S	TMCO3_uc001vtt.4_Silent_p.S313S	NM_017905	NP_060375	Q6UWJ1	TMCO3_HUMAN	Homo sapiens transmembrane and coiled-coil domains 3 (TMCO3), mRNA.	313						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACTAAATAGTATTAAGGTAA	0.343000														86			22		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5339001	5339001	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5339001C>T	uc003sod.3	+	8	1313	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	SLC29A4_uc003soc.3_Silent_p.G384G|SLC29A4_uc003soe.3_Silent_p.G370G	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	384					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCATCCTGGGCGAGTGGCTGC	0.642000														103			10		0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102468224	102468224	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102468224C>T	uc001tjc.3	-	8	954	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	297					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GATCCAACGGCTACAGAACCC	0.383000														54			10		0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726498	131726498	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131726498C>A	uc003kwx.4	+	7	1505	c.1241C>A	c.(1240-1242)gCc>gAc	p.A414D	SLC22A5_uc003kww.4_Missense_Mutation_p.A390D|SLC22A5_uc010jdr.1_Missense_Mutation_p.A10D	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	390					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TATGTGTTGGCCTGGCTGCTG	0.537000														124			27		6.32553e-13	7.33687e-13	1	1	0
AGPAT4	56895	broad.mit.edu	37	6	161653106	161653106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161653106C>T	uc003qtr.1	-	1	367	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	AGPAT4_uc003qts.1_5'UTR|AGPAT4_uc011egb.1_Missense_Mutation_p.R47Q|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Missense_Mutation_p.R47Q|AGPAT4_uc011egd.1_Intron|AGPAT4_uc011ege.1_Missense_Mutation_p.R47Q	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	47					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GTTGATCTTCCGGAAGAGCTG	0.448000														90			17		0	0	1	0	0
CCDC142	84865	broad.mit.edu	37	2	74702391	74702391	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74702391G>A	uc002slr.3	-	6	2150	c.1757C>T	c.(1756-1758)gCc>gTc	p.A586V	MRPL53_uc002sln.3_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.A579V|CCDC142_uc002slp.2_Missense_Mutation_p.A586V	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	586										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						GTCAAGCCAGGCACCCACGAT	0.582000														277			16		0	0	1	0	0
ARL4A	10124	broad.mit.edu	37	7	12728429	12728429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:12728429G>A	uc003ssp.3	+	1	856	c.550G>A	c.(550-552)Gat>Aat	p.D184N	ARL4A_uc003ssq.3_Missense_Mutation_p.D184N|ARL4A_uc021zzq.1_Missense_Mutation_p.D184N|ARL4A_uc003sss.3_Missense_Mutation_p.D184N|ARL4A_uc021zzr.1_Missense_Mutation_p.D184N	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	184					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GAAACTACATGATATGATCAT	0.393000														95			25		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71555571	71555571	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555571C>T	uc004agu.3	+	13	1672	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	PIP5K1B_uc011lrq.2_Missense_Mutation_p.S456F|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.	456						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)		GCCCTGGGATCCCGACACAGG	0.433000														226			42		0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4780014	4780014	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4780014C>T	uc002cxj.2	-	2	432	c.137G>A	c.(136-138)gGc>gAc	p.G46D	ANKS3_uc002cxi.2_5'Flank|ANKS3_uc021tcj.1_5'UTR|ANKS3_uc021tck.1_Missense_Mutation_p.G46D|ANKS3_uc002cxk.3_5'UTR|ANKS3_uc010uxs.2_Intron|ANKS3_uc002cxm.3_5'UTR	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	46										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						TTCATACTGGCCAATGGAAGC	0.577000														323			55		0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7249714	7249714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7249714C>T	uc002ggd.2	+	11	1117	c.911C>T	c.(910-912)cCt>cTt	p.P304L		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	304	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCCAGGACCCTGTGACTGTG	0.587000											OREG0024135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		164			28		0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113545942	113545942	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113545942C>T	uc001tun.2	-	14	1764	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	RASAL1_uc010syp.2_Missense_Mutation_p.R487Q|RASAL1_uc001tul.3_Missense_Mutation_p.R487Q|RASAL1_uc001tum.2_Missense_Mutation_p.R487Q|RASAL1_uc010syq.2_Missense_Mutation_p.R487Q|RASAL1_uc001tuo.4_Missense_Mutation_p.R487Q|RASAL1_uc010syr.2_Missense_Mutation_p.R487Q	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	487	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTTGGTCCCGAAGGTCAAA	0.557000														65			23		0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831869	40831869	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40831869C>A	uc002iax.4	-	1	795	c.791G>T	c.(790-792)aGc>aTc	p.S264I	PLEKHH3_uc002iau.2_5'Flank|PLEKHH3_uc002iav.2_5'Flank|PLEKHH3_uc002iaw.2_5'Flank|CNTNAP1_uc002iay.3_5'Flank|CNTNAP1_uc010wgs.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	264						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CAGGGCGAGGCTGTAGGGCAG	0.721000														50			12		2.68362e-12	3.09043e-12	1	1	0
TRIM46	80128	broad.mit.edu	37	1	155148076	155148076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155148076G>A	uc001fhs.1	+	1	361	c.278G>A	c.(277-279)cGc>cAc	p.R93H	KRTCAP2_uc001fho.3_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc010pez.1_Missense_Mutation_p.R80H|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.R93H|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Intron|TRIM46_uc001fhu.1_Missense_Mutation_p.R70H|TRIM46_uc009wpg.1_Missense_Mutation_p.R80H|TRIM46_uc009wpf.2_Missense_Mutation_p.R80H|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	93						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CGCCTCTCCCGCAGAACTCTC	0.657000														190			37		0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31316320	31316320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31316320C>T	uc003jhe.2	+	8	1756	c.1396C>T	c.(1396-1398)Cca>Tca	p.P466S	CDH6_uc003jhd.2_Missense_Mutation_p.P466S	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	466	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACAGATAATCCAAAGCAAAG	0.368000														52			5		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828513	42828513	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42828513C>A	uc002ihf.3	+	13	1953	c.1740C>A	c.(1738-1740)tcC>tcA	p.S580S	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	580					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTTCCCCTCCTATCTCAATG	0.562000														240			42		3.05275e-18	3.6841e-18	1	1	0
ZNF274	10782	broad.mit.edu	37	19	58723727	58723727	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58723727C>A	uc002qrq.1	+	8	1636	c.1177C>A	c.(1177-1179)Ctt>Att	p.L393I	ZNF274_uc002qrr.1_Missense_Mutation_p.L361I|ZNF274_uc002qrs.1_Missense_Mutation_p.L288I|ZNF274_uc010eum.1_Missense_Mutation_p.L153I	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	394					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAAAAAGACCTTCCTCAGAA	0.488000														70			14		0.000219431	0.000226893	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140176734	140176734	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176734G>A	uc003lhd.2	+	0	2291	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E729K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E729K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	737					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCACCCACCGAGGGTGCGCG	0.662000														288			68		0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436949	16436949	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:16436949T>C	uc003zml.3	-	5	1383	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	BNC2_uc011lmw.2_Missense_Mutation_p.T320A|BNC2_uc003zmm.3_Missense_Mutation_p.T373A|BNC2_uc003zmq.1_Missense_Mutation_p.T429A|BNC2_uc003zmr.1_Missense_Mutation_p.T452A|BNC2_uc003zmp.1_Missense_Mutation_p.T443A|BNC2_uc010mij.1_Missense_Mutation_p.T337A|BNC2_uc011lmv.2_Missense_Mutation_p.T241A|BNC2_uc003zmo.1_Missense_Mutation_p.T337A|BNC2_uc003zmj.3_Missense_Mutation_p.T180A|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.T180A|BNC2_uc003zmn.1_Missense_Mutation_p.T180A	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCAGTTTTGGTTAGATCACTG	0.483000														93			23		0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56246527	56246527	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56246527G>A	uc002lhj.4	-	3	1695	c.1481C>T	c.(1480-1482)aCa>aTa	p.T494I		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	494							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTCATCTCTGTCTCTCTTAC	0.488000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		217			59		0	0	1	0	0
EXOC3L1	283849	broad.mit.edu	37	16	67221403	67221403	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67221403G>T	uc002erx.1	-	4	1006	c.765C>A	c.(763-765)ggC>ggA	p.G255G	EXOC3L1_uc002erv.1_Non-coding_Transcript|EXOC3L1_uc002erw.1_Intron|EXOC3L1_uc010vje.1_Silent_p.G194G|EXOC3L1_uc002ery.1_Silent_p.G199G	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	Homo sapiens exocyst complex component 3-like 1 (EXOC3L1), mRNA.	255	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	21						CCTGCTCCAGGCCCTCCTGTA	0.687000														101			9		5.4927e-09	6.0639e-09	1	1	0
SDC3	9672	broad.mit.edu	37	1	31349524	31349524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31349524C>T	uc001bse.2	-	2	792	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	SDC3_uc001bsd.2_Missense_Mutation_p.V191I	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	249	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGTGCTGACCAGCCTGGGT	0.706000														75			18		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107955830	107955830	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955830C>T	uc003prx.3	+	5	2286	c.1782C>T	c.(1780-1782)tcC>tcT	p.S594S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	594							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGTCCAAGTCCGCGGACTCGC	0.756000														35			13		0	0	1	0	0
TRIM59	286827	broad.mit.edu	37	3	160156199	160156199	+	Missense_Mutation	SNP	C	T	T	rs142551772		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160156199C>T	uc003fdm.3	-	2	968	c.773G>A	c.(772-774)cGc>cAc	p.R258H	IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.R258H	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	258						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TACATGCTGGCGTACATCATC	0.378000														130			29		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457633	124457633	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457633G>A	uc001lgn.3	-	2	656	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	208										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				CCTTTCGTCTGGCCTTATTTT	0.448000														73			15		0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8358148	8358148	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8358148T>C	uc002glj.3	+	6	932	c.735T>C	c.(733-735)acT>acC	p.T245T	NDEL1_uc002gli.3_Silent_p.T245T	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	245	Interaction with CENPF.|Interaction with DISC1.|Interaction with KATNA1 (By similarity).|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						GTCCACTAACTCCCTCTGCTA	0.403000														237			46		0	0	1	0	0
CTSD	1509	broad.mit.edu	37	11	1778668	1778668	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1778668C>T	uc001luc.2	-	4	723	c.590G>A	c.(589-591)gGc>gAc	p.G197D	MOB2_uc001ltq.2_Intron	NM_001909	NP_001900	P07339	CATD_HUMAN	Homo sapiens cathepsin D (CTSD), mRNA.	197					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCCCAGGATGCCATCGAACTT	0.602000														60			12		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124827723	124827723	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124827723C>T	uc021rga.1	-	32	4902	c.4785G>A	c.(4783-4785)acG>acA	p.T1595T	NCOR2_uc021rgb.1_Silent_p.T1579T|NCOR2_uc010tbb.2_Silent_p.T1588T|NCOR2_uc010tbc.2_Silent_p.T1578T|NCOR2_uc021rgc.1_Silent_p.T1578T|NCOR2_uc010tba.2_Silent_p.T1596T|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1596					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCTCACGAGGCGTCGACGTCA	0.657000														104			8		0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136667191	136667191	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136667191C>T	uc003erh.3	+	3	1160	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	NCK1_uc011bme.2_Missense_Mutation_p.R280C	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	344	SH2.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CATTGGGCAGCGTAAATTCAG	0.348000														74			13		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881246	18881246	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881246C>A	uc002guw.3	-	4	1900	c.1733G>T	c.(1732-1734)gGg>gTg	p.G578V	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	578										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TTCTTCCACCCCATCCAGCCC	0.667000														206			54		1.51943e-15	1.80078e-15	1	1	0
RPUSD4	84881	broad.mit.edu	37	11	126079531	126079531	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126079531G>A	uc001qde.3	-	2	496	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	FAM118B_uc001qdf.3_5'Flank|FAM118B_uc009zca.3_5'Flank|RPUSD4_uc010sbl.2_5'Flank|RPUSD4_uc009zbz.3_Silent_p.L148L	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	148					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		CGGTGGCACAGATGCAAGGGC	0.522000														393			64		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39062895	39062895	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39062895C>T	uc002oit.3	+	94	14113	c.13983C>T	c.(13981-13983)ggC>ggT	p.G4661G	RYR1_uc002oiu.3_Silent_p.G4656G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4661					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)	GCATCATTGGCTATAATTGTC	0.597000														167			16		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71863050	71863050	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71863050C>T	uc004ahe.3	+	18	3108	c.2790C>T	c.(2788-2790)ggC>ggT	p.G930G	TJP2_uc011lrs.2_Silent_p.G907G|TJP2_uc004ahd.3_Silent_p.G930G|TJP2_uc004ahf.3_Silent_p.G930G|TJP2_uc011lru.2_Silent_p.G934G|TJP2_uc011lrv.2_Silent_p.G961G|TJP2_uc010mom.1_Silent_p.G90G	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	930					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.G930G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GTGAAGGAGGCGCCTACACTG	0.622000														87			36		0	0	1	0	0
KIAA0922	23240	broad.mit.edu	37	4	154525552	154525552	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154525552G>T	uc010ipp.3	+	24	3440	c.3388G>T	c.(3388-3390)Gac>Tac	p.D1130Y	KIAA0922_uc003inm.4_Missense_Mutation_p.D1129Y|KIAA0922_uc010ipq.3_Missense_Mutation_p.D898Y	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1129						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCACCAGCCAGACTTGCCAGA	0.428000														162			13		1.5842e-08	1.73923e-08	1	1	0
CFLAR	8837	broad.mit.edu	37	2	202005146	202005146	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202005146C>A	uc002uxb.4	+	4	1055	c.590C>A	c.(589-591)cCt>cAt	p.P197H	CFLAR_uc002uwz.3_Missense_Mutation_p.P197H|CFLAR_uc010zhk.2_Missense_Mutation_p.P101H|CFLAR_uc010zhl.2_Missense_Mutation_p.P101H|CFLAR_uc002uxc.4_Missense_Mutation_p.P197H|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.P197H|CFLAR_uc002uxe.2_Missense_Mutation_p.P197H|CFLAR_uc021vuw.1_Missense_Mutation_p.P197H|CFLAR_uc010fsx.3_Missense_Mutation_p.P197H|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.P197H|CFLAR_uc010zhm.2_Missense_Mutation_p.P101H|CFLAR_uc010fsz.3_5'UTR|DQ582762_uc021vux.1_5'Flank|CFLAR_uc002uxg.3_5'UTR|CFLAR-AS1_uc002uxh.1_Non-coding_Transcript	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	197	Interaction with FADD.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTCAAGGATCCTTCAAATAAC	0.398000														105			34		6.00712e-18	7.23423e-18	1	1	0
C17orf49	124944	broad.mit.edu	37	17	6920612	6920612	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6920612C>A	uc002ged.3	+	5	1264	c.551C>A	c.(550-552)tCt>tAt	p.S184Y	C17orf49_uc002gec.3_3'UTR|C17orf49_uc010vti.2_3'UTR|MIR497HG_uc021tox.1_Non-coding_Transcript	NM_001142798	NP_001136270	Q8IXM2	BAP18_HUMAN	Homo sapiens chromosome 17 open reading frame 49 (C17orf49), transcript variant 1, mRNA.	0					chromatin modification	MLL1 complex|NURF complex	DNA binding			kidney(1)|large_intestine(2)|ovary(1)	4						CTCATGACCTCTGCTGATCCT	0.592000														173			43		1.7489e-18	2.11342e-18	1	1	0
RAD54L	8438	broad.mit.edu	37	1	46743903	46743903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46743903C>T	uc001cpl.2	+	17	2904	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	RAD54L_uc009vye.2_Silent_p.I731I	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	731					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CCACTGCCATCACCTTCGTCT	0.587000								Direct reversal of damage;Homologous recombination						47			15		0	0	1	0	0
BTBD8	284697	broad.mit.edu	37	1	92568203	92568203	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92568203G>A	uc001doo.3	+	2	788	c.521G>A	c.(520-522)aGa>aAa	p.R174K	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	174						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		ATCAGTGACAGAGATGATGAT	0.333000														55			19		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124053224	124053224	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124053224T>C	uc003ehg.3	+	8	1650	c.1523T>C	c.(1522-1524)cTg>cCg	p.L508P	KALRN_uc010hrv.1_Missense_Mutation_p.L508P|KALRN_uc003ehf.1_Missense_Mutation_p.L508P|KALRN_uc011bjy.1_Missense_Mutation_p.L508P	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	508					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						CACCAGGTGCTGGACGTGGTG	0.627000														222			46		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36026194	36026194	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36026194C>T	uc001bza.3	+	3	569	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Missense_Mutation_p.R148C|NCDN_uc001bzc.3_Missense_Mutation_p.R131C	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	148					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CGATGCTGCCCGCCGCTCCAT	0.627000														425			19		0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541647	44541647	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44541647T>C	uc011azx.2	-	3	783	c.622A>G	c.(622-624)Acc>Gcc	p.T208A	ZNF445_uc011azw.1_Intron|ZNF852_uc011azy.2_Missense_Mutation_p.T174A			B6EU87	B6EU87_HUMAN	RecName: Full=Putative zinc finger protein 852;	208					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						CCTGTGTGGGTTCTGAGATGA	0.493000														49			10		0	0	1	0	0
SRBD1	55133	broad.mit.edu	37	2	45645577	45645577	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:45645577G>T	uc002rus.3	-	17	2336	c.2260C>A	c.(2260-2262)Ctg>Atg	p.L754M	SRBD1_uc010yoc.2_Missense_Mutation_p.L273M	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	754					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TTTGGGCCCAGCCCTTTCACT	0.423000														149			65		5.00936e-31	6.31382e-31	1	1	0
ZNF35	7584	broad.mit.edu	37	3	44700999	44700999	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44700999C>T	uc003cnq.3	+	3	1365	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ZNF35_uc003cnr.3_Nonsense_Mutation_p.R222*	NM_003420	NP_003411	P13682	ZNF35_HUMAN	Homo sapiens zinc finger protein 35 (ZNF35), mRNA.	382					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TGTACATCAGCGAAGCCATAC	0.468000														90			17		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457286	159457286	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159457286G>T	uc003qrz.3	-	9	2101	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H	TAGAP_uc011eft.2_Missense_Mutation_p.P527H|TAGAP_uc003qsa.3_Missense_Mutation_p.P412H	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TGGGCTTCCAGGCCTCTCCCA	0.632000														176			46		6.4771e-29	8.13877e-29	1	1	0
SLC27A4	10999	broad.mit.edu	37	9	131107824	131107824	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107824C>A	uc004but.3	+	2	837	c.552C>A	c.(550-552)gcC>gcA	p.A184A	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	184					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GCGAAATGGCCTCAGGTGAGC	0.642000														35			8		0.000157383	0.000162836	1	1	0
BDP1	55814	broad.mit.edu	37	5	70793140	70793140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:70793140C>T	uc003kbp.1	+	12	2106	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	BDP1_uc003kbn.1_Missense_Mutation_p.R615C|BDP1_uc003kbo.3_Missense_Mutation_p.R615C	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	615					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTTGAGAGGTCGCTTCCAAAG	0.358000														64			21		0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71654323	71654323	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71654323T>G	uc002shx.3	+	23	5647	c.5324T>G	c.(5323-5325)gTt>gGt	p.V1775G	ZNF638_uc002shz.3_Missense_Mutation_p.V1775G|ZNF638_uc002shy.3_Missense_Mutation_p.V1775G|ZNF638_uc002sia.3_Missense_Mutation_p.V1775G|ZNF638_uc002sib.1_3'UTR|ZNF638_uc002sic.3_Missense_Mutation_p.V872G|ZNF638_uc002sid.3_Missense_Mutation_p.V144G	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1775					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTTAATTTTGTTACTGTTGAT	0.368000														128			38		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111930659	111930659	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111930659G>A	uc001pmo.3	+	11	2206	c.1547G>A	c.(1546-1548)aGt>aAt	p.S516N	DLAT_uc010rwr.2_Missense_Mutation_p.S389N|DLAT_uc021qqn.1_Missense_Mutation_p.S460N	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	516	Catalytic (By similarity).				glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GTTGCGGTCAGTACTCCTGCA	0.348000														46			13		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61080983	61080983	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61080983C>T	uc001nrc.4	-	15	2283	c.2057G>A	c.(2056-2058)gGc>gAc	p.G686D	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.G686D	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	686	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCAGGATAGCCATCTGAATT	0.438000								Nucleotide excision repair (NER)						96			15		0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	839554	839554	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:839554G>T	uc002ckf.4	+	2	592	c.529G>T	c.(529-531)Gaa>Taa	p.E177*	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Nonsense_Mutation_p.E149*|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Nonsense_Mutation_p.E149*|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	149					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CAGAGTCTCAGAAGCTGCTGC	0.627000														167			41		1.49673e-21	1.83874e-21	1	1	0
DCBLD1	285761	broad.mit.edu	37	6	117841037	117841037	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117841037A>G	uc003pxs.3	+	2	509	c.384A>G	c.(382-384)gtA>gtG	p.V128V	ROS1_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.V128V	NM_173674	NP_775945	Q8N8Z6	DCBD1_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 1 (DCBLD1), mRNA.	128	CUB.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CAAGTGAAGTAACCGTCCGCT	0.438000														120			29		0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1841445	1841445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1841445C>T	uc010uvn.2	-	1	1169	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	IGFALS_uc002cmy.3_Missense_Mutation_p.R325H|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	325					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CTGCCGGATGCGGTTGTGGCC	0.667000														74			17		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768068	77768068	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77768068C>T	uc003yau.2	+	9	9298	c.8911C>T	c.(8911-8913)Cgc>Tgc	p.R2971C	ZFHX4_uc003yaw.1_Missense_Mutation_p.R2926C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2926						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R2955C(1)|p.F2971L(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGCCCAAACGCGTAGTCCA	0.433000										HNSCC(33;0.089)				67			7		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180904637	180904637	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180904637G>A	uc001gok.2	+	4	1659	c.1592G>A	c.(1591-1593)gGc>gAc	p.G531D	KIAA1614_uc001gol.1_Missense_Mutation_p.G152D|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	531										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						CCGGCACCGGGCAGCGAGAGG	0.756000														37			5		0	0	1	0	0
SH2B1	25970	broad.mit.edu	37	16	28877932	28877932	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28877932C>T	uc002dri.3	+	3	956	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Intron|SH2B1_uc002drj.3_Missense_Mutation_p.R173W|SH2B1_uc002drk.3_Missense_Mutation_p.R173W|SH2B1_uc002drl.3_Missense_Mutation_p.R173W|SH2B1_uc010vdd.2_Intron|SH2B1_uc010vde.2_Missense_Mutation_p.R173W|SH2B1_uc002drm.3_Missense_Mutation_p.R173W	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	173	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	p.W172*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTGCAGTGGCGGGGGACCGT	0.642000														205			50		0	0	1	0	0
CLEC14A	161198	broad.mit.edu	37	14	38724527	38724527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38724527C>T	uc001wum.1	-	0	1048	c.701G>A	c.(700-702)cGc>cAc	p.R234H		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	234						integral to membrane	sugar binding	p.A233T(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TTTGTCCCAGCGAGCGCCGAT	0.627000														496			122		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1466897	1466897	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466897C>T	uc002lsr.1	+	14	3805	c.3597C>T	c.(3595-3597)ccC>ccT	p.P1199P	APC2_uc002lss.1_Silent_p.P781P|APC2_uc002lst.1_Silent_p.P1199P|APC2_uc002lsu.1_Silent_p.P1198P|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1199	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAGCTGCCCGACAGCCCCG	0.711000														24			7		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120506274	120506274	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120506274C>A	uc001eik.3	-	10	2135	c.1838G>T	c.(1837-1839)aGc>aTc	p.S613I	NOTCH2_uc001eil.3_Missense_Mutation_p.S613I|NOTCH2_uc021osy.1_Missense_Mutation_p.S574I|NOTCH2_uc001eim.4_Missense_Mutation_p.S530I	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	613	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAAGGGCTGCTGTAACATTC	0.527000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					370			32		3.57733e-08	3.90296e-08	1	1	0
GOLGB1	2804	broad.mit.edu	37	3	121400548	121400548	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121400548C>T	uc010hrc.3	-	14	8985	c.8859G>A	c.(8857-8859)gaG>gaA	p.E2953E	GOLGB1_uc003eei.4_Silent_p.E2948E|GOLGB1_uc003eej.4_Silent_p.E2914E|GOLGB1_uc021xcy.1_Silent_p.E2873E	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2948					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCTGATGCAGCTCATGCTGCC	0.373000														151			31		0	0	1	0	0
CSE1L	1434	broad.mit.edu	37	20	47691952	47691952	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47691952T>G	uc002xty.3	+	11	1364	c.1230T>G	c.(1228-1230)aaT>aaG	p.N410K	CSE1L_uc010zyg.2_Missense_Mutation_p.N193K|CSE1L_uc010ghx.3_Missense_Mutation_p.N354K|CSE1L_uc010ghy.3_Missense_Mutation_p.N59K|CSE1L_uc010zyh.2_Missense_Mutation_p.N59K	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	410					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			GTTATGTTAATTCCATGCTGC	0.428000														102			25		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36961636	36961636	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36961636C>T	uc003jkl.4	+	4	908	c.409C>T	c.(409-411)Cct>Tct	p.P137S	NIPBL_uc003jkk.4_Missense_Mutation_p.P137S|NIPBL_uc003jkm.1_Missense_Mutation_p.P16S	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	137					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACAGTAGTCCTGCATCTTC	0.328000														80			14		0	0	1	0	0
FLYWCH1	84256	broad.mit.edu	37	16	2983257	2983257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2983257C>T	uc002csd.3	+	4	1286	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FLYWCH1_uc002csb.3_Missense_Mutation_p.A307V|FLYWCH1_uc002csc.3_Missense_Mutation_p.A307V|FLYWCH1_uc010bsv.3_5'UTR	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	308						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						CGGGACCACGCGCTGCACGGC	0.667000														69			12		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60591214	60591214	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60591214G>A	uc001xer.4	+	7	2145	c.1623G>A	c.(1621-1623)agG>agA	p.R541R	C14orf135_uc001xeq.2_Silent_p.R541R|C14orf135_uc010apm.3_Non-coding_Transcript	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	775						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		GCTCCAAAAGGCCTGGCATGA	0.388000														121			36		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140361890	140361890	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140361890G>A	uc010ncj.1	-	25	3255	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A948V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652000														134			7		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790610	133790610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790610C>T	uc001qgx.4	-	17	3241	c.3010G>A	c.(3010-3012)Gag>Aag	p.E1004K		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1004	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		AAGGGCCCCTCGGTGGGCAGG	0.677000														123			26		0	0	1	0	0
EPYC	1833	broad.mit.edu	37	12	91371927	91371927	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91371927A>G	uc001tbk.3	-	2	371	c.278T>C	c.(277-279)aTt>aCt	p.I93T		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	93					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGAGCCATCAATCAGCCTGGG	0.537000											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		152			27		0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817328	77817328	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817328C>T	uc003hki.3	-	0	1675	c.1675G>A	c.(1675-1677)Gcc>Acc	p.A559T		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	559																	CCCCGCTCGGCCACAACAGCC	0.602000														94			20		0	0	1	0	0
RPRD1B	58490	broad.mit.edu	37	20	36662454	36662454	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36662454G>A	uc002xho.4	+	0	507	c.105G>A	c.(103-105)aaG>aaA	p.K35K	TTI1_uc002xhl.3_5'Flank|TTI1_uc002xhm.3_5'Flank	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	35	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						ACCACCGCAAGCACGCGGGAC	0.632000														235			51		0	0	1	0	0
RND3	390	broad.mit.edu	37	2	151326722	151326722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:151326722C>T	uc002txg.3	-	5	699	c.514G>A	c.(514-516)Gct>Act	p.A172T	RND3_uc002txe.3_Missense_Mutation_p.A172T|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	172					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		ATATAAGTAGCTGCTCCAATC	0.403000														111			36		0	0	1	0	0
METTL3	56339	broad.mit.edu	37	14	21971467	21971467	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21971467G>A	uc001wbc.3	-	2	664	c.572C>T	c.(571-573)gCc>gTc	p.A191V	METTL3_uc001wbb.3_Missense_Mutation_p.A36V|METTL3_uc010tlw.1_Intron|METTL3_uc010tlx.2_Missense_Mutation_p.A191V|METTL3_uc021rox.1_Missense_Mutation_p.A191V	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	191					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TAACGAACTGGCAAAGGCAGC	0.547000														123			28		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155899568	155899568	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155899568C>A	uc001fmi.1	-	2	343	c.319G>T	c.(319-321)Gta>Tta	p.V107L	KIAA0907_uc001fmj.1_Missense_Mutation_p.V107L|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.V107L|KIAA0907_uc001fmm.3_Missense_Mutation_p.V107L|KIAA0907_uc001fmo.3_Missense_Mutation_p.V107L	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	107										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTAATTTCTACTTCAGCTACC	0.443000														74			11		0.0692343	0.0695478	1	1	0
DLG1	1739	broad.mit.edu	37	3	196921409	196921409	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196921409G>A	uc010ial.3	-	4	629	c.370C>T	c.(370-372)Caa>Taa	p.Q124*	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Nonsense_Mutation_p.Q124*|DLG1_uc003fxn.4_Nonsense_Mutation_p.Q124*|DLG1_uc011bue.2_Nonsense_Mutation_p.Q124*|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Nonsense_Mutation_p.Q124*	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	124					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TTTGTGATTTGTGGGGAAATA	0.363000														50			11		0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99957138	99957138	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99957138C>T	uc022aim.1	+	7	1705	c.633C>T	c.(631-633)ctC>ctT	p.L211L	PILRB_uc003uun.3_Silent_p.L211L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	211					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTCCTCCTCCTGTGGTGGA	0.547000														98			14		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29196652	29196652	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196652G>T	uc002hfs.1	+	13	3938	c.3595G>T	c.(3595-3597)Ggc>Tgc	p.G1199C	ATAD5_uc002hft.1_Missense_Mutation_p.G1096C	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1199					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTACTACATAGGCAAGTCACC	0.308000														74			18		1.15919e-05	1.21889e-05	1	1	0
RABL2A	11159	broad.mit.edu	37	2	114391779	114391779	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114391779G>T	uc002tks.4	+	4	328	c.187G>T	c.(187-189)Gcc>Tcc	p.A63S	RABL2A_uc002tkn.4_Missense_Mutation_p.A63S|RABL2A_uc010flb.3_Missense_Mutation_p.A63S|RABL2A_uc002tkm.4_Missense_Mutation_p.A63S|RABL2A_uc002tkr.3_Missense_Mutation_p.A63S|RABL2A_uc002tkp.4_Missense_Mutation_p.A63S	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	63					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAAGCACACAGCCACGGTAGA	0.552000														36			7		1.06961e-07	1.15953e-07	1	1	0
SNX25	83891	broad.mit.edu	37	4	186278860	186278860	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186278860G>A	uc003ixh.3	+	15	2317	c.2128G>A	c.(2128-2130)Gtt>Att	p.V710I	SNX25_uc010ish.3_Missense_Mutation_p.V426I|SNX25_uc003ixi.3_Missense_Mutation_p.V214I	NM_031953	NP_114159	Q9H3E2	SNX25_HUMAN	Homo sapiens sorting nexin 25 (SNX25), mRNA.	710					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AATTGCCCTCGTTCAGGTCAC	0.373000														86			14		0	0	1	0	0
TRIM7	81786	broad.mit.edu	37	5	180622208	180622208	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180622208G>A	uc003mmz.1	-	6	1561	c.1494C>T	c.(1492-1494)ttC>ttT	p.F498F	TRIM7_uc003mmv.1_Silent_p.F316F|TRIM7_uc003mmw.1_Silent_p.F290F|TRIM7_uc003mmy.1_Silent_p.F290F|TRIM7_uc003mmx.1_Silent_p.F290F	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	498	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		AGCAAACAGAGAAAAGCGGGA	0.632000														55			15		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528855	75528855	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528855C>A	uc001juw.3	+	17	2549	c.2369C>A	c.(2368-2370)aCt>aAt	p.T790N	SEC24C_uc009xrj.2_Missense_Mutation_p.T648N|SEC24C_uc001jux.3_Missense_Mutation_p.T790N|SEC24C_uc010qko.2_Missense_Mutation_p.T671N|SEC24C_uc010qkp.2_Missense_Mutation_p.T38N|SEC24C_uc010qkq.2_Missense_Mutation_p.T38N	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	790					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAAACAGTGACTGTGGAGTTC	0.557000														65			15		7.93312e-07	8.47869e-07	1	1	0
MLLT1	4298	broad.mit.edu	37	19	6213743	6213743	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213743G>A	uc002mek.3	-	9	1637	c.1473C>T	c.(1471-1473)taC>taT	p.Y491Y		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	491					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CCACCTTGTCGTAGGTGCCCT	0.667000			T	MLL	AL									208			43		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005592	42005592	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005592G>T	uc011kbh.2	-	14	3170	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I	GLI3_uc011kbg.2_Missense_Mutation_p.L968I	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1027					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGCTGCTGAGGCTGCTGAAG	0.716000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					76			15		1.49906e-05	1.573e-05	1	1	0
ANK2	287	broad.mit.edu	37	4	113970914	113970914	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113970914C>T	uc003ibe.4	+	0	130	c.30C>T	c.(28-30)agC>agT	p.S10S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Silent_p.S10S|ANK2_uc003ibc.2_Intron|ANK2_uc011cgb.1_Silent_p.S10S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	10					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTCAGAAAAGCGACAGTGGAG	0.438000														67			5		0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2945456	2945456	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2945456G>T	uc011mhj.2	+	6	1139	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	380						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GAGCCCACCAGCTTAATGGAC	0.522000														127			18		8.34094e-07	8.90579e-07	1	1	0
IGSF9	57549	broad.mit.edu	37	1	159897224	159897224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159897224C>A	uc001fur.2	-	20	3649	c.3451G>T	c.(3451-3453)Gcc>Tcc	p.A1151S	IGSF9_uc001fuq.2_Missense_Mutation_p.A1135S|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Missense_Mutation_p.A297S	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1151						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGCGGAAGGCCAGGAATTCC	0.627000														211			25		1.1804e-14	1.38988e-14	1	1	0
MRGPRX1	259249	broad.mit.edu	37	11	18955973	18955973	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18955973C>T	uc001mpg.3	-	0	577	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	120					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACAGGCAGCGCTCGGTGCT	0.587000														238			55		0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3011123	3011123	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3011123G>T	uc010dth.3	-	11	1175	c.912C>A	c.(910-912)tcC>tcA	p.S304S	TLE2_uc010xhb.2_Missense_Mutation_p.P12H|TLE2_uc002lww.3_Silent_p.S303S|TLE2_uc010xhc.2_Silent_p.S181S|TLE2_uc010dti.3_Silent_p.S317S|TLE2_uc010xhd.1_Silent_p.S211S	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	303	Pro/Ser-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGAGTCACAGGATTTGGAGG	0.642000														58			11		3.86212e-05	4.026e-05	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50048864	50048864	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50048864C>T	uc002xwd.3	-	8	2682	c.2462G>A	c.(2461-2463)cGc>cAc	p.R821H	NFATC2_uc002xwc.3_Missense_Mutation_p.R821H|NFATC2_uc010zyv.2_Missense_Mutation_p.R602H|NFATC2_uc010zyw.2_Missense_Mutation_p.R602H|NFATC2_uc002xwe.3_Missense_Mutation_p.R801H|NFATC2_uc010zyx.2_Missense_Mutation_p.R801H|NFATC2_uc010zyy.2_Missense_Mutation_p.R602H|NFATC2_uc010zyz.2_Missense_Mutation_p.R602H	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	821					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCCGCAGCGCAGCTGCTG	0.652000														241			22		0	0	1	0	0
RIPPLY2	134701	broad.mit.edu	37	6	84566960	84566960	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84566960G>A	uc003pke.3	+	4	391	c.240_splice	c.e4-1	p.R80_splice	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	80	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						GCTTCTTTCAGACTATTTTGG	0.289000														70			11		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50552182	50552182	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50552182G>T	uc003bjj.3	+	5	932	c.849G>T	c.(847-849)aaG>aaT	p.K283N	MOV10L1_uc003bjk.4_Missense_Mutation_p.K283N|MOV10L1_uc011arp.2_Missense_Mutation_p.K263N|MOV10L1_uc011arq.1_Missense_Mutation_p.K44N|MOV10L1_uc010hao.1_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	283					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GAACCCTAAAGGAAGGAAGAA	0.398000														113			33		3.62531e-18	4.37168e-18	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141032124	141032124	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141032124A>C	uc002tvj.1	-	84	13983	c.13011T>G	c.(13009-13011)atT>atG	p.I4337M		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4337	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		CATCATCCCCAATGGTACATG	0.413000										TSP Lung(27;0.18)				104			5		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68830434	68830434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68830434G>A	uc001oos.2	+	5	745	c.629G>A	c.(628-630)cGc>cAc	p.R210H	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Missense_Mutation_p.R125H|TPCN2_uc010rqg.1_Missense_Mutation_p.R210H|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	210					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGCATCCGCTGGTCGCTG	0.632000														254			63		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945959	52945959	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945959T>C	uc003gzl.3	+	8	1507	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.V378A|SPATA18_uc003gzk.1_Missense_Mutation_p.V410A	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	410					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TTCCCTCCTGTCGTTGACTTT	0.443000														317			32		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223176548	223176548	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223176548C>T	uc001hnu.2	+	9	2135	c.1809C>T	c.(1807-1809)caC>caT	p.H603H		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	603	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CCTTGCAGCACGCTGCCCTCT	0.448000														182			24		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133840	57133840	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133840G>A	uc002qnm.4	+	2	1423	c.1185G>A	c.(1183-1185)tcG>tcA	p.S395S	ZNF71_uc021vcg.1_Silent_p.S395S	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	395						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R394S(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CGGGGCGCTCGTCCCTCATCG	0.632000														164			32		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166740357	166740357	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166740357C>A	uc002udk.3	-	25	3764	c.3631G>T	c.(3631-3633)Gca>Tca	p.A1211S	TTC21B_uc002udj.2_Non-coding_Transcript	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	1211						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCATATTTTGCTGATTGAATG	0.368000														90			27		7.07758e-08	7.69019e-08	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35247768	35247768	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35247768G>T	uc002yta.1	+	33	4552	c.4284G>T	c.(4282-4284)gaG>gaT	p.E1428D	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.E1423D|ITSN1_uc002ytj.2_Intron|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Non-coding_Transcript|ITSN1_uc002ytk.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1428					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGGAGAAGGAGAACTCTGACC	0.637000														174			36		3.62531e-18	4.37168e-18	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33233558	33233558	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33233558G>T	uc001bvu.1	+	2	450	c.406_splice	c.e2+1	p.E136_splice	KIAA1522_uc010ohm.1_Splice_Site_p.E88_splice|KIAA1522_uc001bvv.2_Splice_Site_p.E77_splice|KIAA1522_uc010ohn.1_Splice_Site_p.E77_splice	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	77										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				ACAACACCAAGGTAAGCTtcc	0.612000														170			11		3.86212e-05	4.026e-05	1	1	0
POLM	27434	broad.mit.edu	37	7	44118348	44118348	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44118348C>A	uc003tjt.3	-	4	797	c.705G>T	c.(703-705)caG>caT	p.Q235H	POLM_uc003tju.3_Missense_Mutation_p.Q235H|POLM_uc003tjv.3_Intron|POLM_uc003tjx.2_Intron|POLM_uc011kbt.1_5'UTR|POLM_uc003tjz.4_Intron|POLM_uc003tka.1_5'Flank|POLM_uc011kbu.1_Missense_Mutation_p.Q202H|POLM_uc010kxy.2_Missense_Mutation_p.Q235H	NM_013284	NP_037416	Q9NP87	DPOLM_HUMAN	Homo sapiens polymerase (DNA directed), mu (POLM), mRNA.	235					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CCTTCATGGTCTGGTACCTCT	0.607000								DNA polymerases (catalytic subunits)						143			23		3.08376e-08	3.36903e-08	1	1	0
MYCN	4613	broad.mit.edu	37	2	16085728	16085728	+	Missense_Mutation	SNP	C	T	T	rs144939456		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:16085728C>T	uc002rci.3	+	2	1204	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	MYCN_uc010yjr.2_Missense_Mutation_p.R302C	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	302					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)			CATCACTGTGCGTCCCAAGAA	0.582000			A		neuroblastoma									83			19		0	0	1	0	0
RIC8B	55188	broad.mit.edu	37	12	107208523	107208523	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107208523C>T	uc001tlw.3	+	2	307	c.182C>T	c.(181-183)aCa>aTa	p.T61I	RIC8B_uc001tlx.3_Missense_Mutation_p.T61I|RIC8B_uc001tly.3_Missense_Mutation_p.T21I|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	61					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						ATCCCAACAACATGTCAAGTG	0.388000														121			21		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355538	34355538	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355538C>A	uc001zhk.1	+	2	1290	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	CHRM5_uc001zhl.1_Missense_Mutation_p.S207Y|CHRM5_uc021sir.1_Missense_Mutation_p.S207Y	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	207					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ATCCCTGTTTCTGTCATGACC	0.532000														429			93		4.09449e-47	5.22064e-47	1	1	0
NCAM2	4685	broad.mit.edu	37	21	22804437	22804437	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22804437C>T	uc002yld.2	+	11	1739	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	NCAM2_uc011acb.2_Missense_Mutation_p.S355F	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	497	Fibronectin type-III 1.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GACGTGCCATCCAGTCCCTAT	0.443000														68			9		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72775296	72775296	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72775296C>T	uc002llw.2	+	7	5672	c.5619C>T	c.(5617-5619)gaC>gaT	p.D1873D		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1873					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCTACGACGGGGAGTTTG	0.687000														92			30		0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024115	71024115	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024115C>A	uc003hfa.4	+	3	219	c.146C>A	c.(145-147)cCt>cAt	p.P49H	C4orf40_uc003hfb.4_Missense_Mutation_p.P49H	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	49						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AATTTACCACCTCCTCTTTAT	0.438000														220			47		2.51966e-14	2.95897e-14	1	1	0
SLC9A6	10479	broad.mit.edu	37	X	135067752	135067752	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135067752C>A	uc004ezk.3	+	0	167	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	SLC9A6_uc011mvx.2_Intron|SLC9A6_uc004ezj.3_Missense_Mutation_p.L31I	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	31					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGTTGCTCCTCGCAGT	0.716000														122			33		2.80507e-11	3.18974e-11	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140870861	140870861	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140870861C>A	uc003lla.2	+	0	2054	c.2054C>A	c.(2053-2055)cCt>cAt	p.P685H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.P685H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	685					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)			ATACACCCTCCTGAGCGTTCA	0.537000														341			62		6.26901e-30	7.88915e-30	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74153437	74153437	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74153437C>T	uc021ulp.1	-	2	1892	c.1574G>A	c.(1573-1575)cGc>cAc	p.R525H		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ATGATAGGTGCGGAAGATCTT	0.716000														38			5		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130575822	130575822	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130575822C>T	uc004bsg.1	+	14	1753	c.1703C>T	c.(1702-1704)aCt>aTt	p.T568I	FPGS_uc004bsh.1_Missense_Mutation_p.T385I|FPGS_uc011mal.1_Missense_Mutation_p.T542I|FPGS_uc004bsi.1_Missense_Mutation_p.T518I|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	568					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GTGCTAGTCACTGGCAGCCTG	0.647000														141			30		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27421850	27421850	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27421850C>T	uc002hdt.1	-	29	4686	c.4528G>A	c.(4528-4530)Gca>Aca	p.A1510T	MYO18A_uc010wbc.1_Missense_Mutation_p.A1052T|MYO18A_uc002hds.2_Missense_Mutation_p.A1052T|MYO18A_uc010csa.1_Missense_Mutation_p.A1510T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1510T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1510					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGAACCCTGCAATGTCCATG	0.552000														151			48		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744962	37744962	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37744962G>A	uc004aag.1	+	15	2977	c.2933G>A	c.(2932-2934)gGc>gAc	p.G978D	FRMPD1_uc004aah.1_Missense_Mutation_p.G978D	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	978						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGTTCATCTGGCCCAGATACT	0.522000														208			48		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10256191	10256191	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10256191C>T	uc003jeq.3	+	3	627	c.456C>T	c.(454-456)agC>agT	p.S152S	CCT5_uc011cmq.2_Intron|CCT5_uc011cmr.2_Silent_p.S97S|CCT5_uc011cms.2_Silent_p.S114S|CCT5_uc011cmt.2_Silent_p.S59S	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	152					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						ACAAGATCAGCGATAGCGTCC	0.483000														51			4		0	0	1	0	0
MGST2	4258	broad.mit.edu	37	4	140599697	140599697	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140599697G>A	uc003ihy.3	+	2	311	c.59_splice	c.e2-1	p.S20_splice	MGST2_uc021xsf.1_Splice_Site_p.S20_splice|MGST2_uc010ioi.1_Intron|MGST2_uc021xse.1_Splice_Site_p.S20_splice	NM_002413	NP_001191296	Q99735	MGST2_HUMAN	Homo sapiens microsomal glutathione S-transferase 2 (MGST2), transcript variant 1, mRNA.	20					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	TTACTTGCAGGTTATTTTGCT	0.398000														42			9		0	0	1	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334204	37334204	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37334204T>C	uc003aqa.4	+	13	2571	c.2354T>C	c.(2353-2355)gTc>gCc	p.V785A	CSF2RB_uc003aqc.4_Missense_Mutation_p.V791A	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	785					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	AACAATCCTGTCCCCCCTGAG	0.642000														157			40		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99358558	99358558	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99358558G>A	uc001kny.3	+	1	597	c.238G>A	c.(238-240)Gag>Aag	p.E80K	PI4K2A_uc001knx.2_Missense_Mutation_p.E80K|PI4K2A_uc001knz.3_Intron|PI4K2A_uc010qoy.1_Intron	NM_138413	NP_612422	Q9BTU6	P4K2A_HUMAN	Homo sapiens 4-hydroxy-2-oxoglutarate aldolase 1 (HOGA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	Ala-rich.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CTCCAATGGCGAGTTTCCTTT	0.582000														216			48		0	0	1	0	0
ESRRA	2101	broad.mit.edu	37	11	64082215	64082215	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64082215G>A	uc001nzq.1	+	4	751	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	ESRRA_uc001nzr.1_Splice_Site_p.A191_splice|ESRRA_uc001nzs.1_Missense_Mutation_p.A192T|ESRRA_uc009ypn.1_Intron|ESRRA_uc021qku.1_5'Flank	NM_004451	NP_004442	P11474	ERR1_HUMAN	Homo sapiens estrogen-related receptor alpha (ESRRA), mRNA.	192					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						TGTCACAGCAGCCCCAGTGAA	0.592000														92			19		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527230	32527230	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527230C>T	uc001utu.2	+	3		c.988C>T			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		AAGAAGCCCGCGCTGGTGGCC	0.607000														85			10		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024448	76024448	+	Missense_Mutation	SNP	G	A	A	rs146943364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76024448G>A	uc010kbe.3	-	5	1639	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	FILIP1_uc003phy.1_Missense_Mutation_p.A367V|FILIP1_uc003phz.3_Missense_Mutation_p.A268V|FILIP1_uc003pia.3_Missense_Mutation_p.A367V|FILIP1_uc003pib.1_Missense_Mutation_p.A119V	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	367										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCCTTTGGCAATTTTATC	0.413000														185			47		0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19351435	19351435	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19351435A>G	uc002nlz.3	+	11	3532	c.3433A>G	c.(3433-3435)Atc>Gtc	p.I1145V	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1145	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AAACACGTGGATCGGCCTGAA	0.632000														136			16		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114031	147114031	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114031C>T	uc011bno.2	-	2	632	c.446G>A	c.(445-447)gGg>gAg	p.G149E	ZIC4_uc003ewc.2_Missense_Mutation_p.G29E|ZIC4_uc021xff.1_Missense_Mutation_p.G137E|ZIC4_uc003ewd.2_Missense_Mutation_p.G99E|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	99						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTTCATGCCCCCGTAGCCATG	0.692000														86			24		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493846	102493846	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493846C>A	uc001yks.2	+	45	9177	c.9013C>A	c.(9013-9015)Ctg>Atg	p.L3005M		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3005	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTCTGGATTCCTGGAGCGAAT	0.433000														169			33		1.36161e-19	1.65525e-19	1	1	0
CTSO	1519	broad.mit.edu	37	4	156849530	156849530	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156849530C>T	uc003ipg.3	-	6	938	c.889G>A	c.(889-891)Gta>Ata	p.V297I		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	297					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		TAACCATCTACTCCCCAAGAA	0.343000														76			18		0	0	1	0	0
SPNS1	83985	broad.mit.edu	37	16	28995106	28995106	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995106G>A	uc010vdi.1	+	12	1461	c.1321_splice	c.e12-1	p.I441_splice	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Splice_Site_p.I368_splice|SPNS1_uc002dsa.2_Splice_Site_p.I441_splice|SPNS1_uc002drz.2_Splice_Site_p.I389_splice|SPNS1_uc010byp.2_Splice_Site_p.I367_splice|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	441					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCTCCCTGCAGATCTCTGACC	0.632000														234			39		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186097274	186097274	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186097274T>C	uc001grq.1	+	82	12984	c.12755T>C	c.(12754-12756)gTc>gCc	p.V4252A	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4252	Ig-like C2-type 41.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACACACTGTCAGCCTGACT	0.388000														107			33		0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122751810	122751810	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122751810C>T	uc003ktk.3	-	3	331	c.215G>A	c.(214-216)cGt>cAt	p.R72H	CEP120_uc010jcz.2_Missense_Mutation_p.R46H|CEP120_uc011cwq.2_5'UTR	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	72						centrosome		p.Q71K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GATAGGAGTACGCTGTAGCCT	0.338000														35			6		0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25915985	25915985	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25915985G>A	uc011dkb.2	-	7	1125	c.1042C>T	c.(1042-1044)Cga>Tga	p.R348*	SLC17A2_uc011dkc.2_Nonsense_Mutation_p.R348*|SLC17A2_uc003nfl.3_Nonsense_Mutation_p.R348*			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	348					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						AAGAGCTTTCGCACAGTGATC	0.473000														100			20		0	0	1	0	0
CACNG1	786	broad.mit.edu	37	17	65051341	65051341	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65051341T>G	uc002jfu.3	+	2	552	c.427T>G	c.(427-429)Ttc>Gtc	p.F143V		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	143					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	CGCGTCCATGTTCTATGCCTT	0.637000														130			8		0	0	1	0	0
MTFMT	123263	broad.mit.edu	37	15	65316129	65316129	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65316129G>A	uc002aof.4	-	2	449	c.423C>T	c.(421-423)ggC>ggT	p.G141G		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	141						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CATTCAATATGCCACTGAGTT	0.433000														40			13		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218757686	218757686	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218757686C>A	uc002vgt.2	-	8	790	c.392G>T	c.(391-393)aGc>aTc	p.S131I	TNS1_uc002vgr.2_Missense_Mutation_p.S131I|TNS1_uc002vgs.2_Missense_Mutation_p.S131I|TNS1_uc010zjv.1_Missense_Mutation_p.S131I|TNS1_uc010fvj.1_Missense_Mutation_p.S199I|TNS1_uc010fvk.1_Missense_Mutation_p.S256I|TNS1_uc002vgu.3_Missense_Mutation_p.S162I	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	131	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGAAATGTTGCTGTAGTGCAT	0.542000														115			28		1.55811e-20	1.90328e-20	1	1	0
NXT1	29107	broad.mit.edu	37	20	23335079	23335079	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23335079G>A	uc021wbj.1	+	0	401	c.401G>A	c.(400-402)cGc>cAc	p.R134H	NXT1_uc002wsx.1_Missense_Mutation_p.R134H	NM_013248	NP_037380	Q9UKK6	NXT1_HUMAN	Homo sapiens NTF2-like export factor 1 (NXT1), mRNA.	134	NTF2.					cytoplasm|nuclear pore				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GACTGCTTCCGCTTCCAGGAC	0.542000														78			16		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17895033	17895033	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17895033C>A	uc002nhg.3	+	24	2494	c.2215C>A	c.(2215-2217)Ctg>Atg	p.L739M	FCHO1_uc010ebb.2_Missense_Mutation_p.L739M|FCHO1_uc002nhh.2_Missense_Mutation_p.L739M|FCHO1_uc010xpw.1_Missense_Mutation_p.L689M	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	739										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CGTGGTGCTGCTGCGATACCA	0.652000											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			6		8.12818e-05	8.44191e-05	1	1	0
LOC100505681	100505681	broad.mit.edu	37	19	47996703	47996703	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47996703G>T	uc021uwo.1	+	2		c.244_splice	c.e2-1		NAPA_uc002phd.2_Silent_p.I130I|NAPA_uc002pha.2_Silent_p.I130I|NAPA_uc002phc.2_Silent_p.I17I|NAPA_uc010elf.2_5'UTR					Homo sapiens uncharacterized LOC100505681 (LOC100505681), non-coding RNA.									p.I130I(1)									CTGTCTCATAGATCTCAGCAA	0.607000														405			87		3.62344e-47	4.62031e-47	1	1	0
ST5	6764	broad.mit.edu	37	11	8747727	8747727	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8747727C>T	uc001mgt.3	-	3	1556	c.1370G>A	c.(1369-1371)aGt>aAt	p.S457N	ST5_uc009yfr.3_Missense_Mutation_p.S37N|ST5_uc001mgu.3_Missense_Mutation_p.S37N|ST5_uc001mgv.3_Missense_Mutation_p.S457N|ST5_uc010rbq.1_Non-coding_Transcript	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	457					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGACTGGAGACTGGATGCATC	0.458000														112			28		0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170108126	170108126	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170108126G>A	uc003fgu.3	+	4	2257	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	SKIL_uc011bps.2_Silent_p.P495P|SKIL_uc003fgv.3_Silent_p.P469P|SKIL_uc003fgw.3_Silent_p.P515P	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	515					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTTCATCTCCGCTTCTTGTGA	0.363000														136			8		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621451	32621451	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621451G>T	uc003xiv.2	+	11	1971	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	NRG1_uc022ats.1_Missense_Mutation_p.R435M|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.R490M|NRG1_uc003xiw.2_Missense_Mutation_p.R482M|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.R227M|NRG1_uc010lvs.2_Missense_Mutation_p.R227M|NRG1_uc010lvp.2_Missense_Mutation_p.R439M|NRG1_uc010lvq.2_Missense_Mutation_p.R415M|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.R328M|NRG1_uc003xja.2_Missense_Mutation_p.R296M	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	485					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ACACCACCAAGGCTGCGGGAG	0.577000														111			28		1.77063e-15	2.09702e-15	1	1	0
ERC1	23085	broad.mit.edu	37	12	1137623	1137623	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1137623G>T	uc001qjb.2	+	1	795	c.554G>T	c.(553-555)aGc>aTc	p.S185I	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.S185I|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.S185I	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	185					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			TCAATGAATAGCATCAAGACC	0.428000														81			12		7.03913e-09	7.75971e-09	1	1	0
DSG2	1829	broad.mit.edu	37	18	29115361	29115361	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29115361T>C	uc002kwu.4	+	9	1597	c.1409T>C	c.(1408-1410)gTg>gCg	p.V470A		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	470	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTAAAGATTGTGGCCATATCA	0.299000														46			11		0	0	1	0	0
ACR	49	broad.mit.edu	37	22	51182561	51182561	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51182561A>C	uc003bnh.4	+	3	650	c.638A>C	c.(637-639)cAg>cCg	p.Q213P		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	213	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	DNA binding|amidase activity|copper ion binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		AACTCGACCCAGTGGTACAAT	0.567000														236			25		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5786851	5786851	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5786851G>A	uc002mdc.3	-	8	1492	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Silent_p.H223H	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	465					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGAGCGGCCGTGGAGCTGGG	0.642000														37			6		0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608109	127608109	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127608109C>T	uc021zes.1	+	2	487	c.351C>T	c.(349-351)taC>taT	p.Y117Y	RNF146_uc021zet.1_Silent_p.Y116Y|RNF146_uc021zeu.1_Silent_p.Y116Y|RNF146_uc021zev.1_Silent_p.Y116Y|RNF146_uc021zew.1_Silent_p.Y117Y|RNF146_uc003qat.3_Silent_p.Y116Y|RNF146_uc021zex.1_Silent_p.Y116Y|RNF146_uc003qaw.3_Silent_p.Y116Y|RNF146_uc003qau.3_Silent_p.Y116Y|RNF146_uc003qav.3_Silent_p.Y117Y|RNF146_uc021zey.1_Silent_p.Y116Y	NM_001242851	NP_001229780	Q9NTX7	RN146_HUMAN	Homo sapiens ring finger protein 146 (RNF146), transcript variant 10, mRNA.	117	WWE.				Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGTGGCAGTACGATGAGCGCA	0.423000														145			18		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17766716	17766716	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17766716G>A	uc021uqk.1	-	9	1301	c.1259C>T	c.(1258-1260)gCt>gTt	p.A420V		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	420					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGGTGGCTCAGCCTCAGGGAT	0.677000														46			7		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777551	96777551	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96777551G>A	uc001yfi.3	-	27	4429	c.4064C>T	c.(4063-4065)gCg>gTg	p.A1355V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1355										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATTCATTAACGCAGCACAAGA	0.458000														169			38		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29385310	29385310	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29385310G>A	uc001zck.3	+	5	1306	c.1102G>A	c.(1102-1104)Gac>Aac	p.D368N	APBA2_uc010azj.2_Missense_Mutation_p.D368N|APBA2_uc010uat.2_Missense_Mutation_p.D368N|APBA2_uc001zcl.3_Missense_Mutation_p.D368N|APBA2_uc001zcm.1_Missense_Mutation_p.D72N	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	368	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGACCTCATCGACGGGATCAT	0.537000														150			19		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55871818	55871818	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55871818A>T	uc002rzf.2	-	22	1913	c.1860T>A	c.(1858-1860)ttT>ttA	p.F620L		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	620	KH.				RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGTCCAACAAATTTTGCTC	0.333000														64			12		0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212149	26212149	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:26212149G>T	uc022buc.1	+	0	186	c.186G>T	c.(184-186)caG>caT	p.Q62H	MAGEB6_uc004dbr.3_Missense_Mutation_p.Q62H	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	62	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CCATTCCTCAGGAGTCTCAGG	0.522000														112			34		6.02846e-25	7.50304e-25	1	1	0
DENND4A	10260	broad.mit.edu	37	15	66031062	66031062	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66031062A>G	uc002api.3	-	5	1168	c.783T>C	c.(781-783)acT>acC	p.T261T	DENND4A_uc002aph.3_Silent_p.T261T|DENND4A_uc002apj.3_Silent_p.T261T|DENND4A_uc010ujj.1_Silent_p.T261T	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	261	UDENN.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTGAGGCTCCAGTTAAAACAA	0.343000														84			15		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796834	57796834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796834G>A	uc003hch.3	+	3	2157	c.1810G>A	c.(1810-1812)Gga>Aga	p.G604R	REST_uc003hci.3_Missense_Mutation_p.G604R|REST_uc010ihf.3_Missense_Mutation_p.G278R	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	604	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					TGTTGAGAAGGGATCTGCTCA	0.498000														78			20		0	0	1	0	0
DDB1	1642	broad.mit.edu	37	11	61079518	61079518	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61079518G>A	uc001nrc.4	-	16	2334	c.2108C>T	c.(2107-2109)aCc>aTc	p.T703I	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.T703I	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	703	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CTCATCGATGGTGCCAATGGT	0.552000								Nucleotide excision repair (NER)						234			24		0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575729	12575729	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12575729T>C	uc002mtv.4	-	3	1168	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	ZNF709_uc002mtw.4_Missense_Mutation_p.Y304C|ZNF709_uc002mtx.4_Missense_Mutation_p.Y336C	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTACAATCATAGGGTTTCTC	0.358000														108			6		0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97773576	97773576	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97773576C>A	uc010qop.2	+	5	582	c.350C>A	c.(349-351)cCt>cAt	p.P117H	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CC2D2B_uc001klk.3_Intron|CC2D2B_uc001kll.3_Missense_Mutation_p.P117H	NM_001159747	NP_001153219	Q6DHV5	C2D2B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2B (CC2D2B), transcript variant 1, mRNA.	117										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TCTTTGATTCCTTTTGTGCCT	0.313000														38			8		2.17888e-05	2.28139e-05	1	1	0
ASIC2	40	broad.mit.edu	37	17	32483180	32483180	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32483180C>T	uc002hhu.3	-	0	646	c.372G>A	c.(370-372)ccG>ccA	p.P124P		NM_001094	NP_001085	Q16515	ACCN1_HUMAN	Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG1, mRNA.	124					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GATGGGGGTCCGGGATCTGCA	0.597000														195			20		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80038697	80038697	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80038697G>A	uc002kdu.3	-	38	6814	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2233	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GAGTTGAGCCGCATCAGGGTG	0.677000														33			7		0	0	1	0	0
ABHD1	84696	broad.mit.edu	37	2	27352776	27352776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27352776C>T	uc002rit.3	+	5	932	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	ABHD1_uc002riu.3_Non-coding_Transcript|ABHD1_uc002riv.3_Non-coding_Transcript	NM_032604	NP_115993	Q96SE0	ABHD1_HUMAN	Homo sapiens abhydrolase domain containing 1 (ABHD1), mRNA.	258						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGCTGGGCTCTGCCAACT	0.562000														91			14		0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139531	3139531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3139531C>T	uc002ctv.1	-	4	1827	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H	ZSCAN10_uc002cty.1_Missense_Mutation_p.R241H|ZSCAN10_uc002ctw.1_Missense_Mutation_p.R498H|ZSCAN10_uc002ctx.1_Missense_Mutation_p.R508H	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	580					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CTCGCTGCAGCGGCAGGGCTT	0.721000														69			11		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208383704	208383704	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208383704C>T	uc001hgz.3	-	2	2050	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PLXNA2_uc001hha.4_Missense_Mutation_p.R485H	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	431	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		AGAGGTCATGCGGTCCCTGCT	0.542000														69			16		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120463721	120463721	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120463721C>T	uc003idh.3	-	9	1620	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	PDE5A_uc003idf.3_Missense_Mutation_p.E447K|PDE5A_uc003idg.3_Missense_Mutation_p.E437K|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	489	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	AGAAACTGTTCGTCATTTCGG	0.438000														137			7		0	0	1	0	0
FBL	2091	broad.mit.edu	37	19	40327287	40327287	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40327287G>T	uc002omn.3	-	6	818	c.704C>A	c.(703-705)gCt>gAt	p.A235D	DYRK1B_uc002omi.3_5'Flank|DYRK1B_uc002omj.3_5'Flank|DYRK1B_uc002omk.3_5'Flank|DYRK1B_uc002oml.3_5'Flank|FBL_uc002omm.1_Missense_Mutation_p.A149D|FBL_uc002omo.2_Missense_Mutation_p.A234D	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	235					rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GGCCACATCAGCAAAGATCAC	0.537000														86			14		2.32078e-09	2.57599e-09	1	1	0
ABLIM3	22885	broad.mit.edu	37	5	148619346	148619346	+	Missense_Mutation	SNP	C	T	T	rs150488528	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148619346C>T	uc003lpy.2	+	12	1350	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_uc003lpz.1_Missense_Mutation_p.R367W|ABLIM3_uc003lqa.1_Missense_Mutation_p.R313W|ABLIM3_uc003lqb.3_Missense_Mutation_p.R305W|ABLIM3_uc003lqc.1_Missense_Mutation_p.R367W|ABLIM3_uc003lqd.1_Missense_Mutation_p.R305W|ABLIM3_uc003lqe.1_Missense_Mutation_p.R305W|ABLIM3_uc003lqf.3_Missense_Mutation_p.R305W	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642000														209			48		0	0	1	0	0
IL12B	3593	broad.mit.edu	37	5	158753736	158753736	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158753736G>A	uc003lxr.1	-	1	97	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	19					T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCACGAGGGGAGATGCCAGA	0.507000														114			16		0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17788054	17788054	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17788054C>T	uc003ncg.4	-	26	3474	c.3314G>A	c.(3313-3315)cGa>cAa	p.R1105Q	KIF13A_uc003ncf.3_Missense_Mutation_p.R1092Q|KIF13A_uc003nch.4_Missense_Mutation_p.R1105Q|KIF13A_uc003nci.4_Missense_Mutation_p.R1092Q	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1105					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTATTCTCGTCGTTTAATGAG	0.393000														126			19		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53556405	53556405	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53556405C>T	uc021onn.1	-	7	1450	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	SLC1A7_uc021onm.1_Missense_Mutation_p.V297M|SLC1A7_uc001cux.3_5'UTR|SLC1A7_uc001cuy.3_Missense_Mutation_p.V369M|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	399						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.L427L(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ACGGGCAGCACGAAGCGAGCG	0.617000														59			5		0	0	1	0	0
WDR41	55255	broad.mit.edu	37	5	76758930	76758930	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76758930C>A	uc003kff.1	-	3	625	c.338G>T	c.(337-339)aGa>aTa	p.R113I	WDR41_uc011csy.1_Missense_Mutation_p.R113I|WDR41_uc011csz.1_Missense_Mutation_p.R58I|WDR41_uc011cta.1_Non-coding_Transcript|WDR41_uc011ctb.1_Non-coding_Transcript	NM_018268	NP_060738	Q9HAD4	WDR41_HUMAN	Homo sapiens WD repeat domain 41 (WDR41), mRNA.	113										NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		AATAACTGTTCTATCAGCAGA	0.383000														41			9		6.40141e-05	6.6609e-05	1	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237341	84237341	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84237341C>T	uc002bjw.3	+	3	443	c.248C>T	c.(247-249)aCc>aTc	p.T83I	SH3GL3_uc010uot.1_Missense_Mutation_p.T83I|SH3GL3_uc002bjx.3_Missense_Mutation_p.T14I|SH3GL3_uc002bju.3_Missense_Mutation_p.T91I|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	83	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding	p.S83L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						CAGGTGAAGACCACAGGATAC	0.468000														113			32		0	0	1	0	0
ESRRB	2103	broad.mit.edu	37	14	76905708	76905708	+	Silent	SNP	C	T	T	rs1141580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76905708C>T	uc001xsr.3	+	3	383	c.12C>T	c.(10-12)gaC>gaT	p.D4D	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.D4D	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	4						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTCCTCGGACGACAGGCACC	0.657000														280			57		0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43571363	43571363	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43571363C>A	uc001zrf.1	-	10	1796	c.1791G>T	c.(1789-1791)atG>atT	p.M597I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	597					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTAGGACCAGCATGGACCTCC	0.547000														69			17		4.14922e-12	4.76557e-12	1	1	0
PIGQ	9091	broad.mit.edu	37	16	628425	628425	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:628425C>T	uc002cho.3	+	4	1127	c.989C>T	c.(988-990)gCt>gTt	p.A330V	PIGQ_uc010bqw.3_Missense_Mutation_p.A330V|PIGQ_uc002chn.3_Missense_Mutation_p.A330V|PIGQ_uc010uui.2_Missense_Mutation_p.A344V	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	330	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CTGATGGGTGCTCCCGCCGGG	0.677000														109			17		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42800334	42800334	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42800334C>A	uc002ihf.3	+	2	382	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	DBF4B_uc002ihd.2_Missense_Mutation_p.L57M|DBF4B_uc010wjb.1_Non-coding_Transcript|DBF4B_uc002ihe.3_5'UTR|DBF4B_uc010wjc.2_Missense_Mutation_p.L57M|DBF4B_uc002ihg.3_Missense_Mutation_p.L41M	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	57	BRCT.				cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TTACTTGGATCTGCCTGCTGG	0.502000														103			23		3.8784e-16	4.61393e-16	1	1	0
ZNF652	22834	broad.mit.edu	37	17	47394342	47394342	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394342T>G	uc002iov.4	-	1	1210	c.746A>C	c.(745-747)aAg>aCg	p.K249T	ZNF652_uc002iow.3_Missense_Mutation_p.K249T|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCTGGGGCACTTCTCACAGGT	0.488000														139			13		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187886	62187886	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187886G>A	uc002yfj.3	+	1	962	c.870G>A	c.(868-870)acG>acA	p.T290T	C20orf195_uc021wgc.1_Silent_p.T290T	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	290										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGACCTCCACGCTGGTGTACG	0.622000														384			45		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55569916	55569916	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55569916C>A	uc010igr.3	+	4	870	c.783C>A	c.(781-783)agC>agA	p.S261R	KIT_uc010igs.3_Missense_Mutation_p.S261R	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	261	Ig-like C2-type 3.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATATAATAGCTGGCATCACG	0.343000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					76			11		6.42651e-13	7.45321e-13	1	1	0
PLA2G12A	81579	broad.mit.edu	37	4	110639872	110639872	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110639872C>T	uc003hzp.3	-	1	529	c.252G>A	c.(250-252)ccG>ccA	p.P84P	PLA2G12A_uc010img.3_Silent_p.P84P	NM_030821	NP_110448	Q9BZM1	PG12A_HUMAN	Homo sapiens phospholipase A2, group XIIA (PLA2G12A), mRNA.	84					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity	p.P84L(1)		kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CACATCCATTCGGTGGGGAGG	0.299000														36			9		0	0	1	0	0
PAN2	9924	broad.mit.edu	37	12	56722398	56722398	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56722398C>A	uc001skx.3	-	2	687	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	PAN2_uc001sky.3_Missense_Mutation_p.A104S|PAN2_uc001skz.3_Missense_Mutation_p.A104S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	104					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGCTCCAAGGCTGGGCCAAAA	0.512000														71			18		3.52763e-06	3.73571e-06	1	1	0
SEMA4B	10509	broad.mit.edu	37	15	90766793	90766793	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90766793C>T	uc002boy.3	+	8	1147	c.864C>T	c.(862-864)ggC>ggT	p.G288G	SEMA4B_uc002boz.3_Silent_p.G288G|SEMA4B_uc010uqd.2_Silent_p.G126G|SEMA4B_uc002bpa.3_Silent_p.G126G	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCCTCCAGGGCGATGAGGGTG	0.647000														53			11		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21268446	21268446	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268446T>C	uc001bec.3	-	8	1289	c.1033A>G	c.(1033-1035)Aat>Gat	p.N345D	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.N344D|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.N344D|EIF4G3_uc001bee.3_Missense_Mutation_p.N351D|EIF4G3_uc001beg.3_Missense_Mutation_p.N344D|EIF4G3_uc010odk.2_Missense_Mutation_p.N345D|EIF4G3_uc001beh.3_Missense_Mutation_p.N356D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	345					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGAATATCATTAGGTGCTACA	0.368000														231			28		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81939093	81939093	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81939093T>C	uc002fgt.3	+	14	1626	c.1448T>C	c.(1447-1449)aTg>aCg	p.M483T	PLCG2_uc010chg.1_Missense_Mutation_p.M483T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	483					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						GAGCTGTACATGTGGGATTCC	0.587000														54			23		0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795904	100795904	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100795904C>A	uc001yhc.3	+	5	922	c.849C>A	c.(847-849)tgC>tgA	p.C283*	SLC25A47_uc001yhd.3_Nonsense_Mutation_p.C137*	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN	Homo sapiens solute carrier family 25, member 47 (SLC25A47), nuclear gene encoding mitochondrial protein, mRNA.	283					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TCAATTGCTGCCGCGCCTTCC	0.652000														330			70		8.3131e-28	1.04259e-27	1	1	0
FAM194A	131831	broad.mit.edu	37	3	150403768	150403768	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150403768A>G	uc003eyg.3	-	4	708	c.651T>C	c.(649-651)atT>atC	p.I217I	FAM194A_uc003eyh.3_Silent_p.I71I	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	217										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCATATAAAATATTTAGTT	0.328000														113			30		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711061	41711061	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41711061G>A	uc002yyq.1	-	6	1944	c.1492C>T	c.(1492-1494)Cga>Tga	p.R498*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	498	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACGTTTATTCGAGCCTGGTAC	0.527000														103			32		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659486	77659486	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659486C>T	uc010xfl.2	+	1	1071	c.1071C>T	c.(1069-1071)ccC>ccT	p.P357P		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	357					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.V356M(1)|p.P357S(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCAGCGTGCCCGCCAGCTATT	0.706000														107			14		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023041	76023041	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023041C>T	uc010kbe.3	-	5	3046	c.2516G>A	c.(2515-2517)aGt>aAt	p.S839N	FILIP1_uc003phy.1_Missense_Mutation_p.S836N|FILIP1_uc003phz.3_Missense_Mutation_p.S737N|FILIP1_uc003pia.3_Missense_Mutation_p.S836N|FILIP1_uc003pib.1_Missense_Mutation_p.S588N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	836										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CCGAAGATTACTCATAATATG	0.458000														310			60		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117417759	117417759	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117417759G>A	uc003vjf.3	-	7	2676	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	862										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)		TGGTACATAAGAAGCTTGAGG	0.468000														82			12		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71861684	71861684	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71861684C>T	uc004ahe.3	+	17	2963	c.2645C>T	c.(2644-2646)gCg>gTg	p.A882V	TJP2_uc011lrs.2_Missense_Mutation_p.A859V|TJP2_uc011lrt.1_Missense_Mutation_p.A859V|TJP2_uc004ahd.3_Missense_Mutation_p.A882V|TJP2_uc004ahf.3_Missense_Mutation_p.A882V|TJP2_uc011lru.2_Missense_Mutation_p.A886V|TJP2_uc011lrv.2_Missense_Mutation_p.A913V|TJP2_uc010mom.1_Missense_Mutation_p.A42V	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	882					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						CAAGGAGAAGCGGTTTGGGTC	0.418000														99			24		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31573079	31573079	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31573079C>T	uc002rnv.1	-	24	2721	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	881					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	p.R881Q(2)		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)	GAATAAAGCTCGTTCCATAAT	0.498000														188			39		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32453476	32453476	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32453476G>A	uc003xiv.2	+	1	748	c.231G>A	c.(229-231)ttG>ttA	p.L77L	NRG1_uc022ats.1_Silent_p.L56L|NRG1_uc003xip.3_Silent_p.L292L|NRG1_uc003xir.3_Silent_p.L77L|NRG1_uc010lvl.3_Silent_p.L77L|NRG1_uc010lvm.3_Silent_p.L77L|NRG1_uc010lvn.3_Silent_p.L77L|NRG1_uc003xis.3_Silent_p.L77L|NRG1_uc011lbf.1_Silent_p.L77L|NRG1_uc010lvo.2_Silent_p.L77L|NRG1_uc003xiu.2_Silent_p.L77L|NRG1_uc003xiw.2_Silent_p.L77L|NRG1_uc003xit.2_Silent_p.L77L|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.L43L|NRG1_uc010lvq.2_Silent_p.L36L	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	77	Ig-like C2-type.				Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGAATGAATTGAATCGAAAAA	0.393000														94			19		0	0	1	0	0
AS3MT	57412	broad.mit.edu	37	10	104650340	104650340	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104650340A>G	uc001kwj.3	+	13	1330	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	AS3MT_uc009xxh.3_Missense_Mutation_p.I309V|AS3MT_uc001kwk.3_Missense_Mutation_p.I309V	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	309					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AACAGCAGCTATCTTGAAGAA	0.358000														122			32		0	0	1	0	0
TNNI3	7137	broad.mit.edu	37	19	55663256	55663256	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55663256C>A	uc002qjg.4	-	7	579	c.579G>T	c.(577-579)aaG>aaT	p.K193N	TNNT1_uc002qjb.4_5'Flank|TNNT1_uc002qjc.4_5'Flank|TNNT1_uc002qje.4_5'Flank|TNNT1_uc002qjd.4_5'Flank|TNNT1_uc002qjf.2_5'Flank|TNNI3_uc010yft.2_Non-coding_Transcript	NM_000363	NP_000354	P19429	TNNI3_HUMAN	Homo sapiens troponin I type 3 (cardiac) (TNNI3), mRNA.	193					cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CATCGATGTTCTTGCGCCAGT	0.557000														72			19		8.34094e-07	8.90579e-07	1	1	0
MAP4K1	11184	broad.mit.edu	37	19	39087084	39087084	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087084G>A	uc002oix.1	-	25	2092	c.1984C>T	c.(1984-1986)Ctg>Ttg	p.L662L	MAP4K1_uc002oiy.1_Silent_p.L662L	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	662	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCGGTCAGCAGCGCGAACACG	0.726000														33			8		0	0	1	0	0
CD177	57126	broad.mit.edu	37	19	43858420	43858420	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43858420C>T	uc002owi.3	+	2	297	c.255C>T	c.(253-255)cgC>cgT	p.R85R	CD177_uc021uvf.1_Silent_p.R85R|CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	85					blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				AGGAGCCCCGCGTCACTGAGC	0.647000														93			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848065	61848065	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848065G>A	uc001jky.3	-	28	3718	c.3380C>T	c.(3379-3381)aCg>aTg	p.T1127M	ANK3_uc001jkw.3_Missense_Mutation_p.T261M|ANK3_uc009xpa.3_Missense_Mutation_p.T261M|ANK3_uc001jkx.3_Missense_Mutation_p.T305M|ANK3_uc010qih.2_Missense_Mutation_p.T1128M|ANK3_uc001jkz.4_Missense_Mutation_p.T1121M|ANK3_uc001jla.1_Missense_Mutation_p.T193M|ANK3_uc001jlb.1_Missense_Mutation_p.T645M	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1127					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GAAATCTTTCGTGATAATCCT	0.433000														145			33		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127440424	127440424	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127440424C>T	uc003qas.1	+	0	377	c.87C>T	c.(85-87)cgC>cgT	p.R29R	AK127472_uc003qaq.1_Intron|RSPO3_uc003qar.3_Silent_p.R29R	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	29						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GGGGAAGGCGCCAGCGAAGAA	0.532000														182			31		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27423801	27423801	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27423801C>T	uc002hdt.1	-	27	4521	c.4363G>A	c.(4363-4365)Gaa>Aaa	p.E1455K	MYO18A_uc010wbc.1_Missense_Mutation_p.E997K|MYO18A_uc002hds.2_Missense_Mutation_p.E997K|MYO18A_uc010csa.1_Missense_Mutation_p.E1455K|MYO18A_uc002hdu.1_Missense_Mutation_p.E1455K|MYO18A_uc010wbd.1_Missense_Mutation_p.E1124K	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1455					DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTCTCCAGTTCGTGGTTGCGG	0.647000														27			4		0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47619042	47619042	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47619042G>A	uc003crp.4	-	1	650	c.474C>T	c.(472-474)ggC>ggT	p.G158G	CSPG5_uc003crn.3_Silent_p.G20G|CSPG5_uc003cro.4_Silent_p.G158G|CSPG5_uc021wxh.1_Silent_p.G158G|CSPG5_uc021wxi.1_Silent_p.G20G|CSPG5_uc011bbb.2_Silent_p.G20G	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	158					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCAGCTTGTCGCCGGGGGTGG	0.667000														176			42		0	0	1	0	0
ISX	91464	broad.mit.edu	37	22	35478605	35478605	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35478605C>T	uc003anj.3	+	1	1275	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	108						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						ACTACCCAGACGTTCACATCC	0.587000														118			30		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37745576	37745576	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37745576G>T	uc004aag.1	+	15	3591	c.3547G>T	c.(3547-3549)Gga>Tga	p.G1183*	FRMPD1_uc004aah.1_Nonsense_Mutation_p.G1183*	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1183						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTCAAGGACAGAGCAG	0.493000														128			19		8.10497e-08	8.79904e-08	1	1	0
NLK	51701	broad.mit.edu	37	17	26495604	26495604	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26495604A>G	uc010crj.3	+	5	1180	c.968A>G	c.(967-969)gAc>gGc	p.D323G		NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	Homo sapiens nemo-like kinase (NLK), mRNA.	323	Protein kinase.				Wnt receptor signaling pathway|intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	ATP binding|MAP kinase activity|SH2 domain binding|magnesium ion binding|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AATGCTATTGACATCTGGTCT	0.428000														159			40		0	0	1	0	0
HERC2P9	440248	broad.mit.edu	37	15	28903890	28903890	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28903890G>A	uc010azc.3	+	4		c.822G>A			HERC2P9_uc010uao.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		CAGCTGTTCAGGAGACTGGAA	0.453000														222			21		0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918734	15918734	+	Silent	SNP	C	T	T	rs146111076		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15918734C>T	uc002nbq.2	-	0	203	c.114G>A	c.(112-114)acG>acA	p.T38T		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TGCCCAGCAGCGTGAACAGGT	0.597000														207			47		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413742	22413742	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22413742A>G	uc001yuf.3	+	0	281	c.41A>G	c.(40-42)tAc>tGc	p.Y14C	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		GTAATCTCCTACAGAGGCTGC	0.498000														249			14		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155559212	155559212	+	Missense_Mutation	SNP	C	T	T	rs146087306		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155559212C>T	uc010lqk.1	+	15	3606	c.3238C>T	c.(3238-3240)Cgc>Tgc	p.R1080C	RBM33_uc011kvv.1_Missense_Mutation_p.R890C|RBM33_uc003wmg.2_Missense_Mutation_p.R16C	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1080							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GGGCCGGGGGCGCCTGATGCC	0.612000														71			9		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105411530	105411530	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105411530G>T	uc010axc.1	-	6	10378	c.10258C>A	c.(10258-10260)Cta>Ata	p.L3420I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L3320I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3420						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACTTTTAGGTCCAGCTTG	0.612000														592			123		6.72603e-65	8.59512e-65	1	1	0
SLC24A3	57419	broad.mit.edu	37	20	19698237	19698237	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:19698237G>A	uc002wrl.3	+	16	1982	c.1785_splice	c.e16+1	p.T595_splice		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	595						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTTTTGTCACGGTAGGTTGGC	0.522000														301			77		0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99624000	99624000	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99624000G>T	uc001kos.3	+	3	433	c.367G>T	c.(367-369)Gac>Tac	p.D123Y		NM_001010917	NP_001010917	Q2TAP0	GOG7B_HUMAN	Homo sapiens golgin A7 family, member B (GOLGA7B), mRNA.	123						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						CCTACTTACAGACCCTGTGGA	0.527000														79			8		1.06961e-07	1.15953e-07	1	1	0
C1orf110	339512	broad.mit.edu	37	1	162824821	162824821	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162824821C>T	uc001gck.2	-	3	818	c.643G>A	c.(643-645)Gct>Act	p.A215T	C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.A214T	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	215										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						GGCTTTAGAGCAACATCTTTT	0.463000														176			23		0	0	1	0	0
NEURL3	93082	broad.mit.edu	37	2	97165184	97165184	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97165184G>T	uc010fhx.3	-	3		c.767C>A			NEURL3_uc002swc.3_Non-coding_Transcript					Homo sapiens neuralized homolog 3 (Drosophila) pseudogene (NEURL3), non-coding RNA.																		CTGGCTGTGGGATCTGAGGCA	0.632000														120			28		3.73148e-12	4.28986e-12	1	1	0
RNFT1	51136	broad.mit.edu	37	17	58033915	58033915	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58033915C>A	uc002iya.3	-	7	1099	c.1006_splice	c.e7-1	p.L336_splice	RNFT1_uc002iyb.3_Splice_Site|RNFT1_uc002iyc.3_Splice_Site_p.L74_splice	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Homo sapiens ring finger protein, transmembrane 1 (RNFT1), mRNA.	336						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			ATTCCAAAAGCTGAAAAGAGA	0.303000														40			6		0.0293803	0.0295844	1	1	0
ANKRD23	200539	broad.mit.edu	37	2	97506535	97506535	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97506535C>T	uc002sxa.3	-	3	444	c.415G>A	c.(415-417)Gcc>Acc	p.A139T	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Intron	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	139						nucleus		p.N138N(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						TTGTCATGGGCATTGGGGTCC	0.597000														227			90		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33634963	33634963	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33634963C>T	uc021ywr.1	+	14	1833	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	537					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TCCCCTGGTGCGGCTGGAGGA	0.602000														178			26		0	0	1	0	0
OR4N3P	390539	broad.mit.edu	37	15	22414005	22414005	+	Nonsense_Mutation	SNP	C	T	T	rs59278647	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22414005C>T	uc001yuf.3	+	0	544	c.304C>T	c.(304-306)Cga>Tga	p.R102*	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		CTGTGATGTCCGACAGGTCAT	0.512000														152			31		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35202044	35202044	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35202044C>T	uc002yta.1	+	26	3614	c.3346C>T	c.(3346-3348)Ctg>Ttg	p.L1116L	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.L995L|ITSN1_uc002ysy.3_Silent_p.L1111L|ITSN1_uc002ysx.3_Silent_p.L1074L|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.L1040L|ITSN1_uc010gmg.3_Silent_p.L1003L|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Silent_p.L1116L|ITSN1_uc010gmi.3_Silent_p.L1079L|ITSN1_uc002ytb.1_Silent_p.L1111L|ITSN1_uc010gmk.3_Silent_p.L1008L|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.L1111L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.L979L|ITSN1_uc021wip.1_Silent_p.L934L|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1116	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAGGAGAGCTGCAAGTCAG	0.463000														146			35		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68264135	68264135	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264135A>C	uc010cfa.1	-	14	2366	c.2178T>G	c.(2176-2178)tgT>tgG	p.C726W	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Missense_Mutation_p.C716W	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	726					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						TCTCCTACAAACACACCCATT	0.542000											OREG0023896	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		160			35		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850742	245850742	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850742C>A	uc001ibf.1	+	11	4897	c.4457C>A	c.(4456-4458)cCg>cAg	p.P1486Q	KIF26B_uc001ibg.1_Missense_Mutation_p.P1104Q|KIF26B_uc001ibh.1_Missense_Mutation_p.P728Q	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGCCCAGTCCGGGAGACAGG	0.627000														19			3		0.115264	0.115636	1	1	0
KALRN	8997	broad.mit.edu	37	3	124380766	124380766	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124380766G>A	uc003ehg.3	+	44	6460	c.6333G>A	c.(6331-6333)caG>caA	p.Q2111Q	KALRN_uc003ehi.3_Silent_p.Q452Q|KALRN_uc003ehk.3_Silent_p.Q414Q|KALRN_uc011bjz.2_Silent_p.Q203Q	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2110					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						GACGTCTGCAGGGCTTTGAGG	0.507000														161			29		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607427	53607427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607427C>T	uc001scf.3	-	7	1363	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	RARG_uc001scd.3_Missense_Mutation_p.G280R|RARG_uc010sob.2_Missense_Mutation_p.G269R|RARG_uc001scg.3_Missense_Mutation_p.G219R|RARG_uc010soc.2_Missense_Mutation_p.G170R|RARG_uc001sce.3_Missense_Mutation_p.G291R|RARG_uc010sod.2_Missense_Mutation_p.G328R	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	291	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.D290D(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGGTCAGCCCGTCGGAGAAG	0.617000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		139			23		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148939510	148939510	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148939510A>G	uc003ewy.4	-	0	323	c.70T>C	c.(70-72)Tat>Cat	p.Y24H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Missense_Mutation_p.Y24H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	24	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CCAATGTAATAATGCTTTTCT	0.353000														69			21		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172773	207172773	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207172773G>A	uc002vbp.2	+	4	3771	c.3521G>A	c.(3520-3522)cGa>cAa	p.R1174Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1174							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATAGTCAATCGACCTCAAATA	0.373000														98			17		0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658323	49658323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49658323G>A	uc002pmv.3	-	0	359	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	TRPM4_uc002pmw.3_5'Flank|TRPM4_uc010emu.3_5'Flank|TRPM4_uc010yak.2_5'Flank|TRPM4_uc002pmx.3_5'Flank|TRPM4_uc010emv.3_5'Flank|TRPM4_uc010yal.2_5'Flank	NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	58					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		AGGTGGTGGCGAAGCTCTGCT	0.577000														214			44		0	0	1	0	0
SERPINA7	6906	broad.mit.edu	37	X	105279214	105279214	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105279214C>T	uc010npd.3	-	1	1020	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SERPINA7_uc004eme.2_Missense_Mutation_p.S262N|SERPINA7_uc010npe.2_Missense_Mutation_p.S262N	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	262					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	AGCATTCTTGCTGTAGTCCAT	0.463000														190			55		0	0	1	0	0
CYB5R1	51706	broad.mit.edu	37	1	202932821	202932821	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202932821G>A	uc001gyt.2	-	6	665	c.594C>T	c.(592-594)atC>atT	p.I198I	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	198					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			GGACTTTCAGGATGGCCCGGA	0.512000														41			4		0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97486013	97486013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97486013C>T	uc003uot.4	-	7	1525	c.1019G>A	c.(1018-1020)cGt>cAt	p.R340H	ASNS_uc011kin.2_Missense_Mutation_p.R257H|ASNS_uc011kio.2_Missense_Mutation_p.R319H|ASNS_uc003uou.4_Missense_Mutation_p.R340H|ASNS_uc003uov.4_Missense_Mutation_p.R340H|ASNS_uc003uox.4_Missense_Mutation_p.R257H	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	340	Asparagine synthetase.			TYDITTVRASV -> LMTLQQFVLRI (in Ref. 8; AAA36781).	cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACTGAAGCACGAACTGTTGT	0.303000														84			14		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260266	65260266	+	Silent	SNP	C	T	T	rs142550439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65260266C>T	uc001xht.3	-	12	2166	c.2115G>A	c.(2113-2115)gcG>gcA	p.A705A	SPTB_uc001xhr.3_Silent_p.A705A|SPTB_uc001xhs.3_Silent_p.A705A|SPTB_uc001xhu.3_Silent_p.A705A	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	705					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTGCTTGCGCGCAACCATGC	0.592000														95			23		0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5788959	5788959	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5788959G>A	uc001iij.3	+	14	4200	c.3575G>A	c.(3574-3576)gGc>gAc	p.G1192D	FAM208B_uc001iik.3_Missense_Mutation_p.G36D	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1192																	AGTCTCCTCGGCCTATCTTCA	0.463000														117			29		0	0	1	0	0
ZNF732	654254	broad.mit.edu	37	4	266376	266376	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:266376C>T	uc021xka.1	-	3	270	c.270G>A	c.(268-270)ggG>ggA	p.G90G	ZNF732_uc011buu.1_Silent_p.G58G	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						AATCTTCTATCCCCTGCACTG	0.328000														14			3		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174190149	174190149	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174190149G>A	uc001gjx.3	+	2	455	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	RABGAP1L_uc009wwq.2_Missense_Mutation_p.E60K|RABGAP1L_uc001gjw.3_Missense_Mutation_p.E23K	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	60					regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity	p.E60*(2)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AAAAGCCATGGAAGAGATTTT	0.373000														128			30		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22737808	22737808	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22737808C>T	uc003gqp.4	+	1	354	c.263C>T	c.(262-264)aCg>aTg	p.T88M	GBA3_uc010iep.3_Missense_Mutation_p.T88M|GBA3_uc011bxo.2_Missense_Mutation_p.T89M	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	88					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity	p.T88K(2)		breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTGATGGGACGACAGGTTTC	0.413000														177			49		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54954201	54954201	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54954201A>C	uc004dtq.3	+	10	1972	c.1865A>C	c.(1864-1866)aAg>aCg	p.K622T	TRO_uc004dts.3_Missense_Mutation_p.K622T|TRO_uc004dtr.3_Missense_Mutation_p.K622T|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.K225T|TRO_uc011mok.2_Missense_Mutation_p.K153T|TRO_uc004dtw.3_Missense_Mutation_p.K225T|TRO_uc004dtx.3_Missense_Mutation_p.K5T	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	622	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAGTCCTCAAGTTTGCATGC	0.537000														56			11		0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39674821	39674821	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39674821C>A	uc002hwy.3	-	0	450	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	KRT15_uc002hwz.3_5'UTR|KRT15_uc002hxa.3_5'UTR|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	87	Gly-rich.|Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ccaaaacccccaccaacgccc	0.577000														217			62		1.80625e-27	2.26323e-27	1	1	0
SAMD11	148398	broad.mit.edu	37	1	879470	879470	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:879470G>T	uc001abw.1	+	13	2063	c.1983G>T	c.(1981-1983)aaG>aaT	p.K661N	SAMD11_uc001abx.1_Missense_Mutation_p.K524N	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	661						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTTCACCCAAGCAGGAGAATG	0.657000														259			65		1.48873e-21	1.82931e-21	1	1	0
ALKBH4	54784	broad.mit.edu	37	7	102098304	102098304	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102098304C>T	uc003uzl.3	-	2	484	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	ALKBH4_uc003uzm.3_Missense_Mutation_p.R76Q	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN	Homo sapiens alkB, alkylation repair homolog 4 (E. coli) (ALKBH4), mRNA.	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692000														95			9		0	0	1	0	0
LUM	4060	broad.mit.edu	37	12	91502072	91502072	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91502072T>C	uc001tbm.3	-	1	1074	c.685A>G	c.(685-687)Aat>Gat	p.N229D		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	229					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TGCAATGCATTAAAACGCTTG	0.433000														185			37		0	0	1	0	0
TMEM8A	58986	broad.mit.edu	37	16	426714	426714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:426714G>A	uc002cgu.4	-	4	863	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TMEM8A_uc002cgv.4_Missense_Mutation_p.P52L	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	245					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						CAGGGTGACCGGGCCCACGGT	0.692000														79			11		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072498	31072498	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072498G>A	uc021tgt.1	-	3	2176	c.1820C>T	c.(1819-1821)gCc>gTc	p.A607V	ZNF668_uc010cag.2_Missense_Mutation_p.A584V|ZNF668_uc010caf.3_Missense_Mutation_p.A584V|ZNF668_uc002eao.3_Missense_Mutation_p.A584V	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P606L(2)|p.P606P(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CAAGTCGCTGGCACTCAAGAA	0.637000														261			74		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90651173	90651173	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90651173C>T	uc001xye.1	+	1	1495	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	351						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CCATGAAGGACTTGCTGGCAG	0.627000														160			33		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4902975	4902975	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4902975G>A	uc002cyb.3	+	1	396	c.57G>A	c.(55-57)gcG>gcA	p.A19A	UBN1_uc010uxw.2_Silent_p.A19A|UBN1_uc002cyc.3_Silent_p.A19A	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	19	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						TGAATCCTGCGTTTTTGAAGA	0.567000														165			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21049222	21049222	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21049222C>T	uc010vbe.2	-	33	4811	c.4811G>A	c.(4810-4812)cGc>cAc	p.R1604H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1604	AAA 1 (By similarity).			YGMR -> FGLH (in Ref. 5; CAB06059).	ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGACAGCGCGCATACCGTA	0.522000														82			23		0	0	1	0	0
OR2L1P	26247	broad.mit.edu	37	1	248154390	248154390	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248154390C>T	uc001idv.1	+	0	822	c.578C>T	c.(577-579)gCt>gTt	p.A193V	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						AAGGTTCTGGCTGTCTTCTAC	0.507000														191			22		0	0	1	0	0
GPER	2852	broad.mit.edu	37	7	1131792	1131792	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131792G>A	uc010ksd.1	+	1	817	c.428G>A	c.(427-429)aGc>aAc	p.S143N	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.S143N|GPER_uc003ska.1_Missense_Mutation_p.S143N|GPER_uc003skb.2_Missense_Mutation_p.S143N|GPER_uc021zyo.1_Missense_Mutation_p.S143N	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	143				NMYSSVF -> QHVQAASS (in Ref. 7; AAB02736).		Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		AACATGTACAGCAGCGTCTTC	0.612000														231			51		0	0	1	0	0
KIAA1430	57587	broad.mit.edu	37	4	186084022	186084022	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186084022G>A	uc003ixf.4	-	4	1676	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V		NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	510										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGGTCAACCGCTGATCGCTC	0.438000														32			6		0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404371	61404371	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61404371G>A	uc001nrz.1	+	4	975	c.220G>A	c.(220-222)Gct>Act	p.A74T						Homo sapiens ribosomal protein, large, P0 pseudogene 2 (RPLP0P2), non-coding RNA.																		AAACAGCCCAGCTCTGGAGAA	0.597000														60			20		0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35680005	35680005	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35680005C>T	uc003anl.3	+	5	1440	c.1266C>T	c.(1264-1266)cgC>cgT	p.R422R	HMGXB4_uc003ank.3_Silent_p.R313R	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	422					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGAGTATCGCGTGACCATTG	0.423000														110			24		0	0	1	0	0
RNF43	54894	broad.mit.edu	37	17	56440681	56440681	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56440681G>A	uc002iwf.3	-	3	2493	c.537C>T	c.(535-537)aaC>aaT	p.N179N	RNF43_uc010wnv.2_Silent_p.N138N|RNF43_uc002iwh.4_Silent_p.N179N|RNF43_uc002iwg.4_Silent_p.N179N|RNF43_uc010dcw.3_Silent_p.N52N	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	179						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGGCCTTTTGGTTCTTGTACA	0.567000														167			39		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100187648	100187648	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100187648G>A	uc001ygo.3	+	10	1053	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q	CYP46A1_uc001ygp.3_Silent_p.Q198Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	351					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGAGACTGCAGTACCTGTCCC	0.557000														71			19		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044705	146044705	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146044705C>T	uc003ijx.3	+	15	2033	c.1593C>T	c.(1591-1593)cgC>cgT	p.R531R	ABCE1_uc003ijy.3_Silent_p.R531R|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	531	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TAGCGGATCGCGTCATCGTTT	0.338000														40			7		0	0	1	0	0
HEATR3	55027	broad.mit.edu	37	16	50102776	50102776	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50102776G>T	uc002efw.3	+	2	559	c.397G>T	c.(397-399)Gag>Tag	p.E133*	HEATR3_uc021thv.1_Nonsense_Mutation_p.E47*|HEATR3_uc002efx.3_Nonsense_Mutation_p.E47*	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	133							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GCTGCTAAAAGAGGTATGCAG	0.388000														181			43		9.39024e-22	1.15418e-21	1	1	0
PABPC1P2	728773	broad.mit.edu	37	2	147346245	147346245	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:147346245G>A	uc002twf.4	+	0	1621	c.705G>A	c.(703-705)caG>caA	p.Q235Q						Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA.																		CTATCCCACAGACCCAGAACC	0.512000														90			20		0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113328755	113328755	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113328755C>T	uc010syl.2	+	18	2084	c.1722C>T	c.(1720-1722)tgC>tgT	p.C574C	RPH3A_uc001ttz.3_Silent_p.C574C|RPH3A_uc001tty.3_Silent_p.C570C|RPH3A_uc009zwe.1_Silent_p.C569C|RPH3A_uc010sym.2_Silent_p.C525C|RPH3A_uc001tua.3_Silent_p.C334C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	574	C2 2.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TCATACGCTGCGTGCACCTGG	0.582000														53			22		0	0	1	0	0
ZFP161	7541	broad.mit.edu	37	18	5290889	5290889	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5290889C>T	uc002kmq.3	-	3	1480	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	ZFP161_uc002kmr.3_Missense_Mutation_p.E440K|ZFP161_uc010dkp.3_Missense_Mutation_p.E440K|ZFP161_uc021ugn.1_Missense_Mutation_p.E440K	NM_001243702	NP_001230631	O43829	ZF161_HUMAN	Homo sapiens zinc finger protein 161 homolog (mouse) (ZFP161), transcript variant 3, mRNA.	440					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)	22						AGCTGCTGTTCTGCTTCCGCA	0.547000														148			30		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122622746	122622746	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122622746G>A	uc001ubq.3	+	12	2268	c.2160G>A	c.(2158-2160)cgG>cgA	p.R720R	MLXIP_uc001ubt.3_Silent_p.R327R	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		AGCAGAACCGGCAGATGAAGC	0.552000														26			8		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113893	17113893	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113893A>G	uc001ioo.3	-	17	2431	c.2379T>C	c.(2377-2379)agT>agC	p.S793S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	793	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGATCCAGACACTATTAGTAA	0.333000														59			17		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978100	107978100	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107978100T>A	uc004eoc.2	-	0	1508	c.1475A>T	c.(1474-1476)aAt>aTt	p.N492I		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	492						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGAGCCCCAATTGTTCATAGG	0.572000														263			86		0	0	1	0	0
OR8K5	219453	broad.mit.edu	37	11	55927351	55927351	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55927351T>G	uc010rja.2	-	0	443	c.443A>C	c.(442-444)cAa>cCa	p.Q148P		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 5 (OR8K5), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTAGAGATATTGAATGCCCAC	0.413000														110			18		0	0	1	0	0
SULT6B1	391365	broad.mit.edu	37	2	37410602	37410602	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37410602T>G	uc002rpu.3	-	2	275	c.254A>C	c.(253-255)aAa>aCa	p.K85T	SULT6B1_uc010yni.2_Non-coding_Transcript	NM_001032377	NP_001027549	Q6IMI4	ST6B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 6B, member 1 (SULT6B1), mRNA.	123						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				CCCAGGTAATTTGTCATAGTG	0.358000														88			37		0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23705055	23705055	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:23705055G>A	uc003zpu.3	-	3	623	c.348C>T	c.(346-348)cgC>cgT	p.R116R	ELAVL2_uc003zps.3_Silent_p.R116R|ELAVL2_uc003zpt.3_Silent_p.R116R|ELAVL2_uc003zpv.3_Silent_p.R116R|ELAVL2_uc003zpw.3_Silent_p.R116R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	116	RRM 1.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGAACTTGGGCGAGCATAGG	0.398000														96			22		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179417271	179417271	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179417271G>A	uc021vsy.1	-	283	82877	c.82652C>T	c.(82651-82653)cCa>cTa	p.P27551L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P21246L|TTN_uc021vta.1_Missense_Mutation_p.P21179L|TTN_uc021vtb.1_Missense_Mutation_p.P21054L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28478	Fibronectin type-III 100.						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)			CACTGTAATTGGCCCAATAGT	0.438000														54			11		0	0	1	0	0
STRC	161497	broad.mit.edu	37	15	43910165	43910165	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43910165C>T	uc001zsf.3	-	1	532	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	STRC_uc010bdl.3_5'UTR|STRC_uc010udz.1_Non-coding_Transcript|STRC_uc001zsg.1_Missense_Mutation_p.G78S	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	152					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GTAGGGGGGCCCCCAGGAACT	0.637000														217			23		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48419054	48419054	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48419054G>T	uc011mmb.1	+	5	1856	c.1770G>T	c.(1768-1770)gaG>gaT	p.E590D	TBC1D25_uc004dka.1_Missense_Mutation_p.E586D|TBC1D25_uc011mly.1_Missense_Mutation_p.E528D|TBC1D25_uc004dkb.1_Missense_Mutation_p.E332D|TBC1D25_uc011mlz.1_Missense_Mutation_p.E332D|TBC1D25_uc011mma.1_Missense_Mutation_p.E332D|TBC1D25_uc004dkc.1_Missense_Mutation_p.E332D|TBC1D25_uc011mmd.1_Missense_Mutation_p.E332D|TBC1D25_uc011mmc.1_Missense_Mutation_p.E332D	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	586						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGATGCAAGAGGTAGGCTCCC	0.597000														209			9		1.58986e-06	1.69271e-06	1	1	0
COL5A3	50509	broad.mit.edu	37	19	10100162	10100162	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10100162C>T	uc002mmq.1	-	24	2115	c.2029G>A	c.(2029-2031)Gga>Aga	p.G677R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	677	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCATCGGATCCTGGGAGGCCT	0.552000														78			22		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71384505	71384505	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71384505C>T	uc003hfk.1	+	1	100	c.11C>T	c.(10-12)aCg>aTg	p.T4M	AMTN_uc010ihy.1_Missense_Mutation_p.T4M	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	4					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ATGAGGAGTACGATTCTACTG	0.338000														103			11		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103339447	103339447	+	Silent	SNP	G	A	A	rs145961723	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103339447G>A	uc001ktg.1	-	7	2257	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Silent_p.S170S|POLL_uc001kte.1_Silent_p.S189S|POLL_uc001kth.1_Silent_p.S222S|POLL_uc001ktj.2_Silent_p.S497S|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.S405S|POLL_uc001kti.2_Silent_p.S497S|POLL_uc001ktl.3_Silent_p.S409S|POLL_uc001ktm.3_Silent_p.S497S|POLL_uc010qqc.2_Silent_p.S189S|POLL_uc010qqa.2_Silent_p.S236S	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	497	DNA binding.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCAAACTCGCTATAGGGCA	0.607000								DNA polymerases (catalytic subunits)						258			27		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808152	20808152	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20808152T>C	uc002npb.1	-	3	681	c.531A>G	c.(529-531)gaA>gaG	p.E177E	ZNF626_uc002npc.1_Silent_p.E101E	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CTTTGCCACATTCTATATATT	0.343000														54			9		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14369491	14369491	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14369491C>T	uc003jff.3	+	17	3081	c.3075C>T	c.(3073-3075)agC>agT	p.S1025S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Silent_p.S976S|TRIO_uc003jfh.1_Silent_p.S674S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1025					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.S1025C(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGGTCTGCAGCGTCCTCGAGA	0.587000														113			23		0	0	1	0	0
AMMECR1L	83607	broad.mit.edu	37	2	128622692	128622692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128622692C>T	uc002tpl.3	-	7	1160	c.909G>A	c.(907-909)ccG>ccA	p.P303P	AMMECR1L_uc002tpm.3_Silent_p.P303P	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	303										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGTAGAGGGGCGGGGCATGAA	0.532000														227			16		0	0	1	0	0
ESCO1	114799	broad.mit.edu	37	18	19154745	19154745	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19154745G>A	uc002kth.1	-	3	994	c.60C>T	c.(58-60)gaC>gaT	p.D20D	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	20					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						AATTCTTATCGTCACTTTTTT	0.343000														65			11		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7595344	7595344	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7595344G>A	uc002mgo.3	+	11	1673	c.1532G>A	c.(1531-1533)aGc>aAc	p.S511N	MCOLN1_uc002mgp.3_Missense_Mutation_p.S476N	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	511					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ATGGTGCTCAGCCTCTTCATC	0.627000														543			126		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2788897	2788897	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2788897C>T	uc009zdu.1	+	43	5836	c.5523C>T	c.(5521-5523)ggC>ggT	p.G1841G	CACNA1C_uc001qkc.2_Silent_p.G1812G|CACNA1C_uc001qjz.2_Silent_p.G1793G|CACNA1C_uc001qkd.2_Silent_p.G1812G|CACNA1C_uc001qke.2_Silent_p.G1782G|CACNA1C_uc001qkf.2_Silent_p.G1801G|CACNA1C_uc009zdw.1_Silent_p.G1834G|CACNA1C_uc001qkg.2_Silent_p.G1799G|CACNA1C_uc001qkh.2_Silent_p.G1801G|CACNA1C_uc001qkl.2_Silent_p.G1841G|CACNA1C_uc001qkj.2_Silent_p.G1793G|CACNA1C_uc001qkk.2_Silent_p.G1793G|CACNA1C_uc001qkn.2_Silent_p.G1793G|CACNA1C_uc001qkm.2_Silent_p.G1782G|CACNA1C_uc001qko.2_Silent_p.G1813G|CACNA1C_uc001qkp.2_Silent_p.G1793G|CACNA1C_uc001qkq.2_Silent_p.G1821G|CACNA1C_uc001qku.2_Silent_p.G1793G|CACNA1C_uc001qkr.2_Silent_p.G1810G|CACNA1C_uc001qks.2_Silent_p.G1793G|CACNA1C_uc001qkt.2_Silent_p.G1812G|CACNA1C_uc009zdv.1_Silent_p.G1790G|CACNA1C_uc001qkb.2_Silent_p.G1793G|CACNA1C_uc001qki.1_Silent_p.G1529G|CACNA1C_uc010sea.1_Silent_p.G484G|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.G111G	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1841					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGTGGAGGGCCACGGGCCCC	0.692000														38			5		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319300	21319300	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319300G>T	uc021tss.1	+	2	1016	c.646G>T	c.(646-648)Ggt>Tgt	p.G216C	KCNJ18_uc002gyv.1_Missense_Mutation_p.G216C|KCNJ18_uc021tst.1_Missense_Mutation_p.G216C	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	216						integral to membrane	inward rectifier potassium channel activity										GTGGCGTGTGGGTAACCTGCG	0.642000														162			11		2.80697e-09	3.10977e-09	1	1	0
OR52N2	390077	broad.mit.edu	37	11	5842359	5842359	+	Missense_Mutation	SNP	G	A	A	rs150750582		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5842359G>A	uc010qzp.2	+	0	794	c.794G>A	c.(793-795)cGt>cAt	p.R265H	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R265H(2)|p.R265S(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCATCGTTTTGTAGGA	0.438000														161			27		0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580103	77580103	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77580103G>A	uc001xtd.3	+	3	821	c.642G>A	c.(640-642)acG>acA	p.T214T	KIAA1737_uc001xtc.1_Silent_p.T116T	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	214										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GTCCCTCGACGCCAGCACCAC	0.582000														111			10		0	0	1	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500629	27500629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27500629G>A	uc002rjl.1	+	3	539	c.121G>A	c.(121-123)Gca>Aca	p.A41T	SLC30A3_uc010ylh.2_5'Flank|DNAJC5G_uc010yli.1_Intron|DNAJC5G_uc002rjm.1_Missense_Mutation_p.A41T	NM_173650	NP_775921	Q8N7S2	DNJ5G_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 gamma (DNAJC5G), mRNA.	41	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCCATTCCGCATTGCTTCC	0.498000														154			66		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12374263	12374263	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12374263G>A	uc001atv.3	+	29	7168	c.7027G>A	c.(7027-7029)Gac>Aac	p.D2343N	VPS13D_uc001atw.3_Missense_Mutation_p.D2343N|VPS13D_uc001atx.3_Missense_Mutation_p.D1531N|VPS13D_uc001aty.1_Missense_Mutation_p.D81N	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2343					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GATGGCTTTTGACACCCGTTA	0.458000														69			10		0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56614517	56614517	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56614517C>T	uc010eth.1	-	1	189	c.70G>A	c.(70-72)Gag>Aag	p.E24K	ZNF787_uc002qml.1_Missense_Mutation_p.E24K	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCTGGGTTCTCGTGACTGGCC	0.642000														92			19		0	0	1	0	0
C6orf118	168090	broad.mit.edu	37	6	165715502	165715502	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165715502C>T	uc003qum.4	-	1	345	c.309G>A	c.(307-309)gcG>gcA	p.A103A	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	103										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCTTCATCCTCGCCACCTTCC	0.682000														183			36		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137710721	137710721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137710721G>T	uc004cfe.3	+	55	4748	c.4366G>T	c.(4366-4368)Ggc>Tgc	p.G1456C		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1456	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATCCCCAGGCCCGGACGG	0.632000														125			18		1.45105e-14	1.70617e-14	1	1	0
STK11IP	114790	broad.mit.edu	37	2	220473895	220473895	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220473895G>A	uc002vml.3	+	15	1962	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	STK11IP_uc010zll.2_Missense_Mutation_p.R597H|STK11IP_uc002vmm.1_Missense_Mutation_p.R629H	NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	640					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGTTGCGTCGCTATTTGGTG	0.647000														27			9		0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156945848	156945848	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156945848C>T	uc003lwz.3	-	6	728	c.649G>A	c.(649-651)Gtg>Atg	p.V217M	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_Missense_Mutation_p.V148M	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	217	Peptidase M12B.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TAATCAGCCACGAGGTAAAGC	0.443000														265			63		0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39777096	39777096	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39777096C>A	uc002hxh.2	-	5	1117	c.996G>T	c.(994-996)gaG>gaT	p.E332D	JUP_uc010wfs.2_Intron	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	332	Coil 2.|Peptide epitope S4; induces T-cell and keratinocyte proliferation and IFN-gamma production.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				AGTAGCGGTTCTCTGTCTCCG	0.637000														164			49		1.61863e-15	1.91825e-15	1	1	0
RELN	5649	broad.mit.edu	37	7	103215993	103215993	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103215993A>G	uc022ajr.1	-	29	4463	c.4303_splice	c.e29+1	p.A1435_splice	RELN_uc022ajq.1_Splice_Site_p.A1435_splice|RELN_uc010liz.3_Splice_Site_p.A1435_splice	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1435	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTAGCCTTACCAGTATATC	0.398000														73			13		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196788367	196788367	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196788367G>A	uc002utj.4	-	22	3878	c.3777C>T	c.(3775-3777)agC>agT	p.S1259S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1259	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGAGTCATCGCTAATATTTT	0.403000														104			16		0	0	1	0	0
PHEX	5251	broad.mit.edu	37	X	22129647	22129647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:22129647G>A	uc004dah.3	+	9	1345	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	PHEX_uc011mjr.2_Missense_Mutation_p.R381H|PHEX_uc011mjs.2_Missense_Mutation_p.R284H	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	381					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTAGCAGGCGCTTTCAGTAT	0.383000														158			51		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53667726	53667726	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53667726G>A	uc010eqm.1	-	3	2117	c.2017C>T	c.(2017-2019)Cga>Tga	p.R673*		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGAATTCTTCGATGTTTTGCA	0.488000														45			6		0	0	1	0	0
SUDS3	64426	broad.mit.edu	37	12	118829014	118829014	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118829014G>T	uc001twz.3	+	5	583	c.444G>T	c.(442-444)gaG>gaT	p.E148D		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	148					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGAAAGAGAACCTGATTG	0.398000														136			30		7.38237e-10	8.2451e-10	1	1	0
IGSF21	84966	broad.mit.edu	37	1	18692065	18692065	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18692065G>A	uc001bau.2	+	5	1272	c.889G>A	c.(889-891)Ggc>Agc	p.G297S	IGSF21_uc001bav.2_Missense_Mutation_p.G118S	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	297						extracellular region		p.G297D(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGCAGTGACGGCACTGTGGA	0.632000														259			67		0	0	1	0	0
ALDH6A1	4329	broad.mit.edu	37	14	74538953	74538953	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74538953G>A	uc001xpo.3	-	3	400	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.R101C|ALDH6A1_uc010asa.3_5'UTR	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	101						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	p.R101H(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	ACCTGCTGGCGGCTTAATACT	0.468000														88			19		0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027766	205027766	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205027766C>A	uc001hbr.3	+	4	731	c.462C>A	c.(460-462)ccC>ccA	p.P154P	CNTN2_uc001hbq.1_Silent_p.P45P|CNTN2_uc009xbi.3_Silent_p.P45P|CNTN2_uc001hbs.3_5'UTR	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	154	Ig-like C2-type 2.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	p.L153F(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGATGTTGCCCTGTAACCCAC	0.597000														49			10		1.58986e-06	1.69271e-06	1	1	0
THSD1	55901	broad.mit.edu	37	13	52952067	52952067	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952067C>T	uc001vgo.3	-	4	2583	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T	THSD1_uc001vgp.3_Missense_Mutation_p.A627T|THSD1_uc010tgz.2_Missense_Mutation_p.A301T	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	680						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		GAGCTGTAGGCAGGGGCCTGC	0.597000														105			23		0	0	1	0	0
ARID3A	1820	broad.mit.edu	37	19	971939	971939	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:971939C>T	uc002lql.3	+	8	1946	c.1656C>T	c.(1654-1656)ggC>ggT	p.G552G		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	552	Gly-rich.|Important for cytoplasmic localization (By similarity).					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G552G(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGGAggcggcggcggcggcg	0.657000														155			25		0	0	1	0	0
BTNL3	10917	broad.mit.edu	37	5	180432639	180432639	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180432639A>G	uc003mmr.3	+	7	1352	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A	BTNL3_uc010jlp.3_Missense_Mutation_p.T175A	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	390	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TTTGTATTTCACATTCAATCC	0.498000														93			43		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3844772	3844772	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3844772C>T	uc002fwy.2	-	12	1895	c.1722G>A	c.(1720-1722)gaG>gaA	p.E574E	ATP2A3_uc002fwz.2_Silent_p.E574E|ATP2A3_uc002fxa.2_Silent_p.E574E|ATP2A3_uc002fxb.2_Silent_p.E574E|ATP2A3_uc002fxc.2_Silent_p.E574E|ATP2A3_uc002fxd.2_Silent_p.E574E|ATP2A3_uc002fwx.2_Silent_p.E574E	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	574					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCTCCATGTCCTCCTTCCTTG	0.642000														316			65		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42042630	42042630	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42042630G>A	uc010ucy.2	+	16	7006	c.6825G>A	c.(6823-6825)ctG>ctA	p.L2275L	MGA_uc010ucz.2_Silent_p.L2066L|MGA_uc010uda.1_Silent_p.L891L|MGA_uc001zoi.3_Silent_p.L489L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2236						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTCACTTACTGCTACCTGGAG	0.438000														48			14		0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	446344	446344	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:446344C>T	uc003jba.3	+	1	152	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	19					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACCGGGAGGCCGTTGCGACAG	0.582000														142			20		0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3586949	3586949	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3586949C>T	uc002lyd.4	+	2	576	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	183	PDZ.							p.Q184E(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCAAGTCCCAGCCCTTCA	0.657000											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			19		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67049925	67049925	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049925G>A	uc009yrn.1	+	12	1338	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	358	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGGGTACATGGCTCCGGAGGT	0.667000														182			42		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73900337	73900337	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73900337C>T	uc011dyh.2	+	12	2023	c.1676C>T	c.(1675-1677)aCa>aTa	p.T559I	KCNQ5_uc011dyi.2_Missense_Mutation_p.T550I|KCNQ5_uc010kat.3_Missense_Mutation_p.T531I|KCNQ5_uc003pgk.3_Missense_Mutation_p.T540I|KCNQ5_uc011dyj.2_Missense_Mutation_p.T430I|KCNQ5_uc011dyk.2_Missense_Mutation_p.T290I	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	540					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTTAAGGAAACATTACGTCCA	0.303000														47			10		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1466480	1466480	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1466480G>A	uc002lsr.1	+	14	3388	c.3180G>A	c.(3178-3180)gcG>gcA	p.A1060A	APC2_uc002lss.1_Silent_p.A642A|APC2_uc002lst.1_Silent_p.A1060A|APC2_uc002lsu.1_Silent_p.A1059A|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1060	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AACTGGCGGCGCAAGAGGGGC	0.687000														63			10		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232030716	232030716	+	Silent	SNP	C	T	T	rs149102064		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232030716C>T	uc002vrn.2	+	22	2862	c.2700C>T	c.(2698-2700)taC>taT	p.Y900Y	PSMD1_uc002vrm.2_Silent_p.Y869Y|PSMD1_uc010fxu.2_Silent_p.Y764Y	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	900					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CCTGTAGATACCAGCCTTTCA	0.418000														144			11		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17619225	17619225	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17619225A>G	uc002zmf.3	-	7	986	c.958T>C	c.(958-960)Tac>Cac	p.Y320H	CECR5_uc002zmh.3_Missense_Mutation_p.Y290H	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	320							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGGCGCCGTATACGTCAGAC	0.557000														120			21		0	0	1	0	0
LRP5L	91355	broad.mit.edu	37	22	25750768	25750768	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25750768G>A	uc003abs.3	-	2	2915	c.450C>T	c.(448-450)gtC>gtT	p.V150V	LRP5L_uc011ajz.2_Silent_p.V150V|LRP5L_uc010guw.1_Silent_p.V150V	NM_182492	NP_872298	A4QPB2	LRP5L_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5-like (LRP5L), transcript variant 1, mRNA.	150								p.V150V(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TCGTCTCATCGACACTGATCG	0.607000														103			17		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38925342	38925342	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38925342C>T	uc003jln.2	+	14	2483	c.2081C>T	c.(2080-2082)cCg>cTg	p.P694L	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	694	Fibronectin type-III 4.				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)					ATTGACAACCCGGAAGAAAAG	0.358000														116			27		0	0	1	0	0
THSD1	55901	broad.mit.edu	37	13	52952422	52952422	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52952422G>A	uc001vgo.3	-	4	2228	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	THSD1_uc001vgp.3_Silent_p.D508D|THSD1_uc010tgz.2_Silent_p.D182D	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	561						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CAATGGCAGTGTCTGTCAGGG	0.527000														340			29		0	0	1	0	0
BPNT1	10380	broad.mit.edu	37	1	220253166	220253166	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220253166A>G	uc001hma.3	-	1	195	c.23T>C	c.(22-24)tTg>tCg	p.L8S	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Intron|BPNT1_uc010puh.2_Missense_Mutation_p.L8S	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	8					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	p.L8V(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CAACCGCATCAACACAGTGTT	0.398000														85			18		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8155129	8155129	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8155129C>T	uc002mjf.3	-	47	6055	c.6038G>A	c.(6037-6039)cGg>cAg	p.R2013Q	FBN3_uc002mje.3_5'Flank	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2013						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2013R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GAAACTCTGCCGTGTGTCTGT	0.612000														81			20		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95054179	95054179	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054179C>T	uc001ydm.2	+	2	690	c.480C>T	c.(478-480)acC>acT	p.T160T	SERPINA5_uc010ave.2_Silent_p.T160T|SERPINA5_uc001ydn.1_Silent_p.T160T	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	160					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CTTTCCCTACCAACTTTAGGG	0.512000														107			20		0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278261	114278261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278261G>A	uc001pow.3	+	4	546	c.536G>A	c.(535-537)aGt>aAt	p.S179N	RBM7_uc001pov.3_Missense_Mutation_p.S178N|RBM7_uc001pox.3_Missense_Mutation_p.S58N	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	178					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CAATCACACAGTCATAGTTTC	0.423000														136			27		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53575044	53575044	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53575044T>A	uc004dsp.3	-	67	10628	c.10226A>T	c.(10225-10227)aAg>aTg	p.K3409M	HUWE1_uc004dsn.3_Missense_Mutation_p.K2217M	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3409					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						TGGCACTGACTTCACGGAGTT	0.547000														19			14		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572610	127572610	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127572610C>T	uc004bov.3	+	7	1991	c.1878C>T	c.(1876-1878)atC>atT	p.I626I	OLFML2A_uc004bow.3_Silent_p.I412I	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	626	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCACCCAGATCGACTACAACC	0.642000														127			23		0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60234492	60234492	+	Missense_Mutation	SNP	G	A	A	rs148035107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60234492G>A	uc009yna.3	+	5	961	c.634G>A	c.(634-636)Gtt>Att	p.V212I	MS4A1_uc009ymz.3_Missense_Mutation_p.V199I|MS4A1_uc010rlc.2_Missense_Mutation_p.V45I|MS4A1_uc001npp.3_Missense_Mutation_p.V212I|MS4A1_uc001npq.3_Missense_Mutation_p.V212I	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	212					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	AGCTGGCATCGTTGAGAATGA	0.418000														110			31		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48779354	48779354	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779354G>A	uc001zwx.2	-	28	3902	c.3507C>T	c.(3505-3507)ggC>ggT	p.G1169G		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1169	EGF-like 18; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCACGCAACGGCCATTGGGGC	0.448000														84			18		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137653790	137653790	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137653790G>A	uc004cfe.3	+	18	2337	c.1955G>A	c.(1954-1956)gGc>gAc	p.G652D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	652	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGTCCTTCCGGCCCACCAGGA	0.577000														124			23		0	0	1	0	0
NXF4	55999	broad.mit.edu	37	X	101822134	101822134	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101822134T>C	uc004ejf.1	+	14		c.1887T>C								Homo sapiens nuclear RNA export factor 4 pseudogene (NXF4), non-coding RNA.											endometrium(2)|lung(8)	10						TCTCTCCAGATCACTCATTAC	0.463000														19			9		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149248121	149248121	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248121C>T	uc002twm.4	+	11	5218	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.D665D|MBD5_uc002twp.3_Silent_p.D457D	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1407	PWWP.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAAGAGAAGACGACGTTCACA	0.408000														97			28		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763277	20763277	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20763277G>A	uc001umy.3	-	1	659	c.444C>T	c.(442-444)gcC>gcT	p.A148A	GJB2_uc021rha.1_Silent_p.A148A	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	148					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		ACATGAAGGCGGCTTCGAAGA	0.542000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		157			17		0	0	1	0	0
TSSC4	10078	broad.mit.edu	37	11	2423983	2423983	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2423983G>A	uc021qcg.1	+	0	120	c.120G>A	c.(118-120)ttG>ttA	p.L40L	TSSC4_uc001lwi.3_Intron|TSSC4_uc001lwk.3_Silent_p.L40L|TSSC4_uc001lwl.3_Silent_p.L40L	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	40										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCTCAGCTTGCCCGGTGGTG	0.657000														15			4		0	0	1	0	0
STMN1	3925	broad.mit.edu	37	1	26230290	26230290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26230290C>A	uc010oev.2	-	2	204	c.28G>T	c.(28-30)Gaa>Taa	p.E10*	STMN1_uc001bkz.3_Nonsense_Mutation_p.E10*|STMN1_uc001blb.3_Nonsense_Mutation_p.E10*|STMN1_uc001bla.3_Nonsense_Mutation_p.E10*|STMN1_uc001blc.3_Nonsense_Mutation_p.E10*	NM_001145454	NP_001138926	P16949	STMN1_HUMAN	Homo sapiens stathmin 1 (STMN1), transcript variant 4, mRNA.	10					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCCAGTTCTTTCACCTGG	0.393000														69			5		0.014758	0.0149061	1	1	0
LY6H	4062	broad.mit.edu	37	8	144240263	144240263	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144240263G>A	uc003yxt.3	-	1	1005	c.258C>T	c.(256-258)tcC>tcT	p.S86S	LY6H_uc011lka.2_Silent_p.S48S|LY6H_uc011lkb.2_Silent_p.S69S|LY6H_uc011lkc.2_Silent_p.S69S			O94772	LY6H_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus H (LY6H), transcript variant 3, mRNA.	48	UPAR/Ly6.				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACACCGTGTCGGACGGCTGGC	0.612000														149			25		0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117203536	117203536	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203536C>T	uc003pxm.3	+	3	574	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	171					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTAGACAATTCGCCAGAAGTT	0.403000														56			7		0	0	1	0	0
IMPA2	3613	broad.mit.edu	37	18	12014290	12014290	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12014290C>T	uc002kqp.2	+	4	650	c.408C>T	c.(406-408)tgC>tgT	p.C136C	IMPA2_uc010dlb.2_Silent_p.C120C|IMPA2_uc021uhq.1_5'UTR	NM_014214	NP_055029	O14732	IMPA2_HUMAN	Homo sapiens inositol(myo)-1(or 4)-monophosphatase 2 (IMPA2), mRNA.	136					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TTTACCACTGCACAGAGGAGC	0.577000														101			17		0	0	1	0	0
TNK1	8711	broad.mit.edu	37	17	7291949	7291949	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7291949C>A	uc002ggi.4	+	10	1949	c.1717C>A	c.(1717-1719)Cct>Act	p.P573T	TNK1_uc002ggj.4_Missense_Mutation_p.P568T|TNK1_uc010cmf.3_Non-coding_Transcript	NM_001251902	NP_001238831	Q13470	TNK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 1 (TNK1), transcript variant 1, mRNA.	573	Pro-rich.				protein autophosphorylation	membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CATGGGAATGCCTGGAGCCCG	0.577000														113			18		1.99824e-07	2.15697e-07	1	1	0
MYH3	4621	broad.mit.edu	37	17	10545853	10545853	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10545853C>A	uc002gmq.2	-	15	1857	c.1769G>T	c.(1768-1770)aGt>aTt	p.S590I		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	590	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						ACCTGAGACACTGTAGTCCAC	0.552000														246			47		2.64894e-19	3.21481e-19	1	1	0
PTPRO	5800	broad.mit.edu	37	12	15739837	15739837	+	Missense_Mutation	SNP	G	A	A	rs141467284	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15739837G>A	uc001rcv.2	+	23	3732	c.3262G>A	c.(3262-3264)Gag>Aag	p.E1088K	PTPRO_uc001rcw.2_Missense_Mutation_p.E1060K|PTPRO_uc001rcx.2_Missense_Mutation_p.E277K|PTPRO_uc001rcy.2_Missense_Mutation_p.E277K|PTPRO_uc001rcz.2_Missense_Mutation_p.E249K|PTPRO_uc001rda.2_Missense_Mutation_p.E249K	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1088	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAGGCTGACGAGATGCAGGA	0.428000														104			27		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99313450	99313450	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99313450C>A	uc003uru.3	-	6	704	c.601G>T	c.(601-603)Gac>Tac	p.D201Y	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	201					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					ACAAAGGGGTCTTGTGGATTG	0.428000														137			43		1.57945e-13	1.84388e-13	1	1	0
CADM3	57863	broad.mit.edu	37	1	159163289	159163289	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159163289G>A	uc001ftl.2	+	3	638	c.459G>A	c.(457-459)caG>caA	p.Q153Q	CADM3_uc009wsx.1_Silent_p.Q187Q|CADM3_uc009wsy.1_Silent_p.Q153Q|CADM3_uc001ftk.2_Silent_p.Q187Q	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	153	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.R152Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TAAACTGTCAGTCTTCTGGGA	0.527000														111			37		0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179318256	179318256	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179318256G>A	uc002umi.4	+	1	476	c.120G>A	c.(118-120)aaG>aaA	p.K40K	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umd.3_5'Flank|PRKRA_uc002ume.3_5'Flank|PRKRA_uc002umf.3_5'Flank|PRKRA_uc002umg.3_5'Flank|DFNB59_uc002umj.4_Silent_p.K40K	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	40					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGGTAAAAAAGAAGCGATGCT	0.388000														66			22		0	0	1	0	0
CCDC41	51134	broad.mit.edu	37	12	94725559	94725559	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94725559G>T	uc001tdd.3	-	13	2210	c.1624C>A	c.(1624-1626)Ctt>Att	p.L542I	CCDC41_uc001tde.3_Missense_Mutation_p.L542I|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	534										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CGCTCATGAAGCTTATGCTTT	0.378000														176			37		4.62619e-21	5.66726e-21	1	1	0
ZNF335	63925	broad.mit.edu	37	20	44599953	44599953	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44599953C>A	uc002xqw.3	-	1	220	c.97G>T	c.(97-99)Gaa>Taa	p.E33*	ZNF335_uc010zxk.2_Intron|ZNF335_uc002xqx.1_5'Flank|ZNF335_uc002xqy.3_5'Flank	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACACGGCTTCTGAGGTGCCC	0.731000														37			10		2.17888e-05	2.28139e-05	1	1	0
CDAN1	146059	broad.mit.edu	37	15	43027493	43027493	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027493C>A	uc001zql.3	-	4	1140	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_Non-coding_Transcript	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	341						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGTCGCTGTCCTTGGCAGTCA	0.493000														38			5		0.014758	0.0149061	1	1	0
DZIP1	22873	broad.mit.edu	37	13	96293679	96293679	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96293679C>T	uc001vmk.3	-	4	1319	c.467G>A	c.(466-468)gGc>gAc	p.G156D	DZIP1_uc001vml.3_Missense_Mutation_p.G156D	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	156					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GCTCTGCTCGCCGTCGCAGTG	0.607000														91			15		0	0	1	0	0
RTF1	23168	broad.mit.edu	37	15	41745191	41745191	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41745191C>A	uc001zny.3	+	2	414	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	134					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		ACAAAACTGCCTCCTCAGGCA	0.463000														75			17		2.94398e-08	3.21697e-08	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150935457	150935457	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150935457C>T	uc003wjr.1	+	3	3522	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V	CHPF2_uc003wjq.1_Missense_Mutation_p.A662V|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	670						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCTTCTGCGGAGGGCTGC	0.711000														50			7		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307732	43307732	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43307732G>T	uc003oux.3	-	9	4082	c.4004C>A	c.(4003-4005)cCt>cAt	p.P1335H	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1335					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCATCCAAGGGCTGGTATG	0.478000														154			47		5.73435e-26	7.15707e-26	1	1	0
FAM58BP	339521	broad.mit.edu	37	1	200183422	200183422	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200183422T>A	uc009wzi.1	+	0	767	c.731T>A	c.(730-732)aTt>aAt	p.I244N		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	244					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						CTCATTCAGATTTATACCATA	0.552000														230			42		0	0	1	0	0
AP1M1	8907	broad.mit.edu	37	19	16339685	16339685	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16339685C>T	uc002ndv.2	+	9	1202	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	AP1M1_uc002ndu.2_Silent_p.S331S|AP1M1_uc010xpd.1_Intron	NM_001130524	NP_001123996	Q9BXS5	AP1M1_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 1 subunit (AP1M1), transcript variant 1, mRNA.	331	MHD.				cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CGGTGGGGAGCGTTAAGTGGG	0.587000														87			23		0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7545675	7545675	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7545675G>A	uc003src.1	-	10	1113	c.996C>T	c.(994-996)gaC>gaT	p.D332D	COL28A1_uc011jxe.1_Missense_Mutation_p.T18I|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	332	Collagen-like 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TTGGGCCTGGGTCTCCTGGAG	0.448000														82			19		0	0	1	0	0
DCP2	167227	broad.mit.edu	37	5	112321682	112321682	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112321682T>C	uc003kqh.3	+	2	429	c.205_splice	c.e2+1	p.V69_splice	DCP2_uc010jcc.3_Splice_Site_p.V69_splice|DCP2_uc011cwa.2_Intron	NM_152624	NP_689837	Q8IU60	DCP2_HUMAN	Homo sapiens DCP2 decapping enzyme homolog (S. cerevisiae) (DCP2), transcript variant 1, mRNA.	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|nucleus	RNA binding|exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTGCTAAAGCTGATATCCTTT	0.328000														93			17		0	0	1	0	0
WDR64	128025	broad.mit.edu	37	1	241959665	241959665	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241959665G>A	uc001hzg.2	+	25	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378000														65			14		0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127497402	127497402	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127497402T>C	uc003kus.3	+	16	2690	c.2526T>C	c.(2524-2526)taT>taC	p.Y842Y	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.Y842Y|SLC12A2_uc003kut.1_Silent_p.Y49Y	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	842					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGCCAAATATCAGCGATGGC	0.353000														25			4		0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39955444	39955444	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39955444C>T	uc002olo.4	+	10	810	c.631C>T	c.(631-633)Cag>Tag	p.Q211*	SUPT5H_uc002olp.4_Nonsense_Mutation_p.Q211*|SUPT5H_uc002olq.4_Nonsense_Mutation_p.Q207*|SUPT5H_uc002oln.4_Nonsense_Mutation_p.Q211*|SUPT5H_uc002olr.4_Nonsense_Mutation_p.Q211*|SUPT5H_uc002ols.1_5'Flank	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	211	Interaction with SUPT4H1.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCCCTGCAGATCAAGTC	0.547000														152			32		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68113742	68113742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68113742G>A	uc003xxo.2	-	36	5617	c.5227C>T	c.(5227-5229)Cgc>Tgc	p.R1743C	ARFGEF1_uc003xxl.1_Missense_Mutation_p.R1197C|ARFGEF1_uc003xxm.2_Missense_Mutation_p.R146C|ARFGEF1_uc003xxn.2_Missense_Mutation_p.R688C|ARFGEF1_uc003xxp.1_Missense_Mutation_p.R5C	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1743					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GCACTAACGCGGCTCTCATCC	0.547000														132			6		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242572459	242572459	+	Silent	SNP	G	A	A	rs149294304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572459G>A	uc002wbt.3	-	1	1406	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	371							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCTTCAGCTCGCCGTTCTTCT	0.617000														86			26		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64434512	64434512	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64434512T>C	uc001xgl.3	+	10	1306	c.1076T>C	c.(1075-1077)cTg>cCg	p.L359P	SYNE2_uc001xgm.3_Missense_Mutation_p.L359P|SYNE2_uc021ruh.1_Missense_Mutation_p.L359P	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	359					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGGATGAGCTGGACAAGGAT	0.428000														138			31		0	0	1	0	0
TAF15	8148	broad.mit.edu	37	17	34171925	34171925	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34171925A>G	uc002hkd.3	+	14	1708	c.1622A>G	c.(1621-1623)tAc>tGc	p.Y541C	TAF15_uc002hkc.3_Missense_Mutation_p.Y538C	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	541	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGCAGTGGCTACGGTGGAGAC	0.622000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									203			44		0	0	1	0	0
GPBAR1	151306	broad.mit.edu	37	2	219127826	219127826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219127826G>A	uc021vwu.1	+	0	379	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	GPBAR1_uc010zjx.1_Missense_Mutation_p.A127T|GPBAR1_uc010zjw.1_Missense_Mutation_p.A127T|GPBAR1_uc010zjy.1_Missense_Mutation_p.A127T	NM_170699	NP_733800	Q8TDU6	GPBAR_HUMAN	Homo sapiens G protein-coupled bile acid receptor 1 (GPBAR1), transcript variant 3, mRNA.	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATTCGGCTGGCCCTGCTCCT	0.652000														135			53		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129831557	129831557	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129831557A>C	uc004bqo.2	+	7	799	c.532A>C	c.(532-534)Atg>Ctg	p.M178L	RALGPS1_uc022bno.1_Missense_Mutation_p.M178L|RALGPS1_uc011mab.2_Missense_Mutation_p.M178L|RALGPS1_uc011mac.2_Missense_Mutation_p.M178L|RALGPS1_uc004bqq.4_Missense_Mutation_p.M178L	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	178	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						GGACTACCTGATGTCGAAAGA	0.363000														54			21		0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102917	13102917	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13102917A>G	uc010shp.2	-	0	402	c.402T>C	c.(400-402)atT>atC	p.I134I		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	134						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GACTGCAACCAATAGCAATGC	0.463000														116			26		0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64092721	64092721	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64092721C>A	uc002jfl.3	-	6	891	c.672G>T	c.(670-672)aaG>aaT	p.K224N	CEP112_uc002jfm.3_Missense_Mutation_p.K224N|CEP112_uc010dep.2_Intron	NM_145036	NP_659473	Q8N8E3	CE112_HUMAN	Homo sapiens centrosomal protein 112kDa (CEP112), transcript variant 1, mRNA.	224						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CTGGGATAGGCTTCTGTCTCA	0.254000														61			15		9.16793e-09	1.00855e-08	1	1	0
ZFHX3	463	broad.mit.edu	37	16	72829708	72829708	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72829708C>A	uc002fck.3	-	8	7546	c.6873G>T	c.(6871-6873)caG>caT	p.Q2291H	ZFHX3_uc002fcl.3_Missense_Mutation_p.Q1377H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2291					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTCGGGCATTCTGAAACCACA	0.453000														303			61		2.14255e-21	2.6293e-21	1	1	0
ZNF679	168417	broad.mit.edu	37	7	63727090	63727090	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:63727090C>A	uc003tsx.3	+	4	1348	c.1079C>A	c.(1078-1080)gCc>gAc	p.A360D		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TGTGGGAAAGCCTTTGCCTTC	0.393000														28			3		1	1	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5352415	5352415	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5352415C>A	uc003soi.4	-	26	8456	c.8107G>T	c.(8107-8109)Gcc>Tcc	p.A2703S		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2703							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTTGGTGGCCTTGGTGGGG	0.741000														52			7		0.00448238	0.00455828	1	1	0
LMOD3	56203	broad.mit.edu	37	3	69168087	69168087	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69168087C>T	uc003dns.2	-	1	1628	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	LMOD3_uc003dnt.2_Silent_p.S473S	NM_198271	NP_938012	Q0VAK6	LMOD3_HUMAN	Homo sapiens leiomodin 3 (fetal) (LMOD3), mRNA.	473						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TCGGGGCCTGCGATGGCTTTT	0.557000														55			12		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23821267	23821267	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23821267T>C	uc001wjl.3	-	0	394	c.157A>G	c.(157-159)Acc>Gcc	p.T53A	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Missense_Mutation_p.T53A|SLC22A17_uc001wjn.3_Non-coding_Transcript|SLC22A17_uc010akl.1_Missense_Mutation_p.T53A	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	53					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity	p.T53T(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TCGGTACTGGTGGCGACACGG	0.662000														42			9		0	0	1	0	0
CNNM1	26507	broad.mit.edu	37	10	101151259	101151259	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101151259C>T	uc010qpi.2	+	11	3194	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	CNNM1_uc001kpp.4_Missense_Mutation_p.P948S|CNNM1_uc009xwf.3_Missense_Mutation_p.P898S|CNNM1_uc009xwg.3_Missense_Mutation_p.P348S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	948					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CAATTTAACACCTCTGATCAC	0.488000														52			6		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008506	46008506	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008506A>G	uc011bal.1	-	6	2432	c.2320T>C	c.(2320-2322)Tct>Cct	p.S774P	FYCO1_uc003cpb.4_Missense_Mutation_p.S774P	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	774					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCGCCTGAGACAGGGCTAGC	0.632000														183			44		0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9874919	9874919	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9874919C>T	uc003btg.3	+	10	2162	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	TTLL3_uc003btd.4_Intron|TTLL3_uc003btc.2_Intron|TTLL3_uc003btf.4_Intron|TTLL3_uc010hco.1_Intron|TTLL3_uc003bth.4_Silent_p.G350G|TTLL3_uc011atj.2_Silent_p.G498G|TTLL3_uc003btj.4_Intron|TTLL3_uc003bti.4_Silent_p.G350G	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	562					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCCAGCGAGGCTCTGGGGAAG	0.642000														87			21		0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95277420	95277420	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95277420C>A	uc011lty.2	-	3	734	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Splice_Site_p.E161_splice|ECM2_uc004asg.3_Splice_Site_p.E161_splice	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	183					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TCTCTTTGTTCTGAAGAATCA	0.403000														71			28		1.5548e-18	1.87917e-18	1	1	0
BMP1	649	broad.mit.edu	37	8	22037910	22037910	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22037910G>A	uc003xbg.3	+	7	1257	c.991G>A	c.(991-993)Ggc>Agc	p.G331S	BMP1_uc003xbf.3_Missense_Mutation_p.G80S|BMP1_uc003xbb.3_Missense_Mutation_p.G331S|BMP1_uc003xbc.3_Missense_Mutation_p.G80S|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Missense_Mutation_p.G80S|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	331	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGACAGCACAGGCAACTTCTC	0.602000														366			37		0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48972297	48972297	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48972297C>T	uc004dmr.3	-	7	1095	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	363						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AAACCGCACACGCAGGTCCCT	0.582000														53			25		0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219103454	219103454	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219103454A>C	uc002vhd.3	+	5	448	c.336A>C	c.(334-336)caA>caC	p.Q112H	ARPC2_uc002vhe.3_Missense_Mutation_p.Q112H|ARPC2_uc002vhf.3_5'UTR	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	112					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TTGTGCATCAAGCTGGCATGT	0.403000														183			83		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74090972	74090972	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74090972G>T	uc021ulp.1	-	3	3416	c.3098C>A	c.(3097-3099)gCt>gAt	p.A1033D	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1033					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGGCGCCCCAGCCACGCCGGG	0.682000														187			40		1.30998e-17	1.57366e-17	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183387083	183387083	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183387083C>T	uc002uos.3	-	1	105	c.21G>A	c.(19-21)gaG>gaA	p.E7E	PDE1A_uc010zfp.1_5'UTR|PDE1A_uc002uoq.1_Silent_p.E7E|PDE1A_uc010zfq.1_Silent_p.E7E|PDE1A_uc002uov.1_Non-coding_Transcript	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	7					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			ATTCTTCAATCTCTGTGGCAC	0.408000														102			24		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10789414	10789414	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10789414C>A	uc001mja.3	+	13	1897	c.1748C>A	c.(1747-1749)cCt>cAt	p.P583H		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	583					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GAATGGGGTCCTGGGCAGAAG	0.418000														303			68		1.17253e-29	1.47487e-29	1	1	0
DUS1L	64118	broad.mit.edu	37	17	80021381	80021381	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80021381G>T	uc002kdq.3	-	2	779	c.360C>A	c.(358-360)gcC>gcA	p.A120A	DUS1L_uc002kdp.3_5'UTR|DUS1L_uc002kdr.3_Silent_p.A120A|DUS1L_uc010wvi.1_Intron	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	120					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CCTGCAGAAAGGCGCCATAGT	0.602000														303			30		3.1745e-13	3.69426e-13	1	1	0
PPT2	9374	broad.mit.edu	37	6	32130591	32130591	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130591T>C	uc003nzw.3	+	8	966	c.791T>C	c.(790-792)cTg>cCg	p.L264P	PPT2_uc003nzx.3_Missense_Mutation_p.L258P|PPT2_uc003nzz.3_Missense_Mutation_p.L258P|PPT2_uc021yvl.1_Intron|EGFL8_uc003nzy.2_Intron|PPT2_uc010jtu.1_Intron|EGFL8_uc003oab.1_5'Flank|EGFL8_uc003oac.1_5'Flank	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	258					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						AAGGTTTATCTGCGGGATTCT	0.562000														322			50		0	0	1	0	0
SDF2L1	23753	broad.mit.edu	37	22	21998296	21998296	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21998296C>T	uc002zvf.3	+	2	582	c.498C>T	c.(496-498)ggC>ggT	p.G166G		NM_022044	NP_071327	Q9HCN8	SDF2L_HUMAN	Homo sapiens stromal cell-derived factor 2-like 1 (SDF2L1), mRNA.	166	MIR 3.					endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					AGCATGTGGGCACCTCTGTGT	0.622000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		76			18		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9960032	9960032	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9960032G>A	uc003bua.3	+	3	725	c.507G>A	c.(505-507)gaG>gaA	p.E169E	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Intron|IL17RC_uc010hcs.3_Intron|IL17RC_uc003btz.3_Silent_p.E98E|IL17RC_uc011atp.2_Intron|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.E98E|IL17RC_uc010hcu.3_Silent_p.E98E|IL17RC_uc003bub.3_Silent_p.E98E|IL17RC_uc010hcv.3_Silent_p.E98E|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.E98E	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	169						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTGGGAAGAGCCTGAAGATG	0.607000														27			7		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20544182	20544182	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20544182G>T	uc003gpr.1	+	20	2413	c.2209G>T	c.(2209-2211)Gtc>Ttc	p.V737F	SLIT2_uc003gps.1_Missense_Mutation_p.V729F	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	737	LRRNT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTGGATACAGTCGTCCGATG	0.413000														287			63		5.10652e-33	6.4505e-33	1	1	0
PIGZ	80235	broad.mit.edu	37	3	196678897	196678897	+	Silent	SNP	C	T	T	rs139328732		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196678897C>T	uc003fxh.3	-	1	153	c.6G>A	c.(4-6)caG>caA	p.Q2Q		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	2					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		ATCCACAGATCTGCATCTGTT	0.418000														33			13		0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121742107	121742107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121742107C>T	uc010flp.3	+	10	1774	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	GLI2_uc002tmq.1_Missense_Mutation_p.R254W|GLI2_uc002tmr.1_Missense_Mutation_p.R237W|GLI2_uc002tmt.4_Missense_Mutation_p.R254W|GLI2_uc002tmu.4_Missense_Mutation_p.R237W|GLI2_uc002tmw.1_Missense_Mutation_p.R565W	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	582					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCTCTCTCCGGAAGCATGT	0.577000														346			51		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934897	30934897	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30934897G>A	uc002nsu.1	+	1	566	c.428G>A	c.(427-429)aGc>aAc	p.S143N	ZNF536_uc010edd.1_Missense_Mutation_p.S143N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCTTCAACAGCATCCTCTCC	0.622000														149			30		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46605085	46605085	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605085G>A	uc002ruv.3	+	9	1812	c.1302G>A	c.(1300-1302)ccG>ccA	p.P434P	EPAS1_uc002ruw.3_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	434					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCCTGCCCCCGAGCCAGCCAT	0.662000														13			6		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697892	113697892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113697892C>T	uc003ynu.3	-	14	2384	c.2225G>A	c.(2224-2226)gGa>gAa	p.G742E	CSMD3_uc003yns.3_Missense_Mutation_p.G14E|CSMD3_uc003ynt.3_Missense_Mutation_p.G702E|CSMD3_uc011lhx.2_Missense_Mutation_p.G638E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	742	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAATTATTTCCATACCCTTC	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				110			26		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37181020	37181020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37181020C>T	uc011cpa.1	-	26	5740	c.5509G>A	c.(5509-5511)Gca>Aca	p.A1837T	C5orf42_uc011coy.1_Missense_Mutation_p.A338T|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.A912T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1837										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTGGAGTTGCTACTGCAACT	0.408000														71			11		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8842076	8842076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8842076G>A	uc010xkg.2	+	0	686	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTAAGCATGCGCTCAGAGGAG	0.587000														124			26		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67789596	67789596	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67789596C>A	uc003xwz.4	+	4	469	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	MCMDC2_uc003xwv.3_Missense_Mutation_p.L100M|MCMDC2_uc011lev.2_Missense_Mutation_p.L100M|MCMDC2_uc011lew.2_Missense_Mutation_p.L31M|MCMDC2_uc011lex.2_Intron|MCMDC2_uc003xwy.4_Missense_Mutation_p.L100M	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	100					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TAATATAGTGCTGAAATTAAC	0.279000														31			3		0.115264	0.115636	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54874327	54874327	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54874327G>T	uc002rxu.3	+	23	5175	c.4926G>T	c.(4924-4926)gaG>gaT	p.E1642D	SPTBN1_uc002rxx.3_Missense_Mutation_p.E1629D	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1642	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AAGCTGTGGAGGACTATGCAG	0.557000														177			35		9.04072e-19	1.09469e-18	1	1	0
MYO10	4651	broad.mit.edu	37	5	16671030	16671030	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16671030G>T	uc003jft.4	-	38	5956	c.5488C>A	c.(5488-5490)Ctt>Att	p.L1830I	MYO10_uc011cnb.2_Missense_Mutation_p.L459I|MYO10_uc011cnc.2_Missense_Mutation_p.L709I|MYO10_uc011cnd.2_Missense_Mutation_p.L1187I|MYO10_uc011cne.2_Missense_Mutation_p.L1187I|MYO10_uc010itx.3_Missense_Mutation_p.L1452I	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1830	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGGCAGCAAGAACCTGGAGG	0.572000														62			8		0.00448238	0.00455828	1	1	0
MELK	9833	broad.mit.edu	37	9	36677318	36677318	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36677318C>A	uc003zzn.3	+	17	2078	c.1940C>A	c.(1939-1941)tCt>tAt	p.S647Y	MELK_uc011lpm.2_Missense_Mutation_p.S516Y|MELK_uc011lpn.2_Missense_Mutation_p.S606Y|MELK_uc011lpo.2_Missense_Mutation_p.S453Y|MELK_uc010mll.3_Missense_Mutation_p.S615Y|MELK_uc011lpp.2_Missense_Mutation_p.S599Y|MELK_uc010mlm.3_Missense_Mutation_p.S576Y|MELK_uc011lpr.2_Missense_Mutation_p.S576Y|MELK_uc011lpq.2_Missense_Mutation_p.S453Y|MELK_uc011lps.2_Missense_Mutation_p.S567Y	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	647	KA1.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GACATCCTATCTAGCTGCAAG	0.458000														52			17		3.41278e-10	3.83229e-10	1	1	0
OR11H6	122748	broad.mit.edu	37	14	20692788	20692788	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20692788T>C	uc010tlc.2	+	0	920	c.920T>C	c.(919-921)aTc>aCc	p.I307T		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I307N(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		AATCCCCTTATCTATAGTCTT	0.408000														138			32		0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186022185	186022185	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186022185A>C	uc001grq.1	+	42	6908	c.6679A>C	c.(6679-6681)Aat>Cat	p.N2227H		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2227	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCACCCCCAAATCTCATCTG	0.338000														100			23		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101054895	101054895	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101054895G>A	uc003pqk.3	-	30	5184	c.4855C>T	c.(4855-4857)Cat>Tat	p.H1619Y		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1619	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCAGCATGATGCATTCCTATC	0.383000														67			12		0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76128508	76128508	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76128508A>G	uc002jup.2	+	3	749	c.367A>G	c.(367-369)Agc>Ggc	p.S123G	TMC6_uc002jul.1_5'Flank|TMC8_uc010dhh.1_Missense_Mutation_p.E184G|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	123						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAACCTGCTGAGCCTGCTGCT	0.642000														48			7		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168807822	168807822	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168807822C>T	uc011bpj.1	-	14	3770	c.3367G>A	c.(3367-3369)Gcc>Acc	p.A1123T	MECOM_uc010hwk.1_Missense_Mutation_p.A949T|MECOM_uc003ffj.3_Missense_Mutation_p.A1000T|MECOM_uc003ffi.3_Missense_Mutation_p.A935T|MECOM_uc011bpi.1_Missense_Mutation_p.A927T|MECOM_uc003ffn.3_Missense_Mutation_p.A935T|MECOM_uc003ffk.2_Missense_Mutation_p.A926T|MECOM_uc003ffl.2_Missense_Mutation_p.A1086T|MECOM_uc011bpk.1_Missense_Mutation_p.A935T	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATCTCCAGGGCACTGGTTTCT	0.438000														156			22		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150947892	150947892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150947892C>T	uc003lue.4	-	0	614	c.601G>A	c.(601-603)Ggt>Agt	p.G201S	FAT2_uc010jhx.1_Missense_Mutation_p.G201S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	201	Cadherin 2.		G -> A (in dbSNP:rs11739693).		epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACCACACCGCTGGTGGGA	0.532000														174			23		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749024	2749024	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749024G>A	uc003jda.3	-	2	1040	c.798C>T	c.(796-798)gaC>gaT	p.D266D	IRX2_uc003jdb.3_Silent_p.D266D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D266V(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGTCGTCCTCGTCGTCCTCCA	0.726000														64			10		0	0	1	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056411	26056411	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26056411A>G	uc003nfw.3	-	0	289	c.246T>C	c.(244-246)ctT>ctC	p.L82L		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	82	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGAGACCAAGTTTGATAC	0.542000														261			60		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71797772	71797772	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71797772G>A	uc010fen.3	+	28	3270	c.3129G>A	c.(3127-3129)aaG>aaA	p.K1043K	DYSF_uc010fei.3_Silent_p.K1042K|DYSF_uc010feh.3_Silent_p.K1011K|DYSF_uc002sig.4_Silent_p.K1011K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.K1056K|DYSF_uc010fee.3_Silent_p.K1025K|DYSF_uc010fef.3_Silent_p.K1042K|DYSF_uc002sie.3_Silent_p.K1025K|DYSF_uc010feo.3_Silent_p.K1057K|DYSF_uc010fej.3_Silent_p.K1012K|DYSF_uc010fel.3_Silent_p.K1012K|DYSF_uc010fem.3_Silent_p.K1026K|DYSF_uc002sif.3_Silent_p.K1026K|DYSF_uc010fek.3_Silent_p.K1043K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1025	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGAAGCCGAAGCACTGGGTCC	0.627000														67			17		0	0	1	0	0
IREB2	3658	broad.mit.edu	37	15	78780532	78780532	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78780532T>C	uc002bdr.2	+	14	1967	c.1805T>C	c.(1804-1806)gTt>gCt	p.V602A	IREB2_uc010unb.1_Missense_Mutation_p.V352A	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	602							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGTGATTTGGTTACCTGTGGA	0.343000														93			23		0	0	1	0	0
GPD1	2819	broad.mit.edu	37	12	50499448	50499448	+	Missense_Mutation	SNP	G	A	A	rs1128867		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50499448G>A	uc001rvz.3	+	2	370	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	GPD1_uc010smp.1_Missense_Mutation_p.A113T|GPD1_uc001rwa.3_Missense_Mutation_p.A90T	NM_005276	NP_005267	P21695	GPDA_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1 (soluble) (GPD1), mRNA.	113			A -> P (in dbSNP:rs1128867).		glycerol-3-phosphate catabolic process|triglyceride biosynthetic process	cytosol|glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8					NADH(DB00157)	GAAGGCAAACGCCACTGGCAT	0.562000														90			15		0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793742	215793742	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793742G>T	uc001hks.3	+	17	2524	c.2230G>T	c.(2230-2232)Gaa>Taa	p.E744*	KCTD3_uc001hkt.3_Nonsense_Mutation_p.E742*|KCTD3_uc010pub.2_Nonsense_Mutation_p.E642*|KCTD3_uc009xdn.3_Nonsense_Mutation_p.E468*	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	744						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGGTCATCAGAAGATGAAAA	0.378000														116			36		1.836e-18	2.21806e-18	1	1	0
PKP4	8502	broad.mit.edu	37	2	159537009	159537009	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159537009G>A	uc002tzv.3	+	21	3659	c.3399G>A	c.(3397-3399)ttG>ttA	p.L1133L	PKP4_uc002tzw.3_Silent_p.L1090L|PKP4_uc002tzx.3_Silent_p.L790L|PKP4_uc002uaa.3_Silent_p.L942L|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.L314L	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1133					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GATTGTATTTGCAGTCTCCTC	0.363000										HNSCC(62;0.18)				112			36		0	0	1	0	0
MTRR	4552	broad.mit.edu	37	5	7897209	7897209	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7897209A>G	uc003jed.3	+	13	1912	c.1882A>G	c.(1882-1884)Atc>Gtc	p.I628V	MTRR_uc003jee.4_Missense_Mutation_p.I601V|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	628					methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	TAAGCATGGGATCTTAACTCA	0.398000														94			15		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18856783	18856783	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18856783T>C	uc002dfm.3	-	38	6550	c.6187A>G	c.(6187-6189)Aag>Gag	p.K2063E	SMG1_uc010bwb.3_Missense_Mutation_p.K1923E|SMG1_uc010bwa.3_Missense_Mutation_p.K794E|SMG1_uc021ted.1_Missense_Mutation_p.K361E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2063					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTCCCAGGCTTTGCAGGGTTC	0.428000														77			23		0	0	1	0	0
OLFML2B	25903	broad.mit.edu	37	1	161970022	161970022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161970022C>T	uc010pkq.2	-	4	1257	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	OLFML2B_uc001gbu.3_Missense_Mutation_p.R277Q	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	277										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CTGCAGGGGCCGCTGTGACTT	0.607000														200			35		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726960	238726960	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238726960G>A	uc002vxi.4	+	2	1533	c.1401G>A	c.(1399-1401)caG>caA	p.Q467Q		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	466							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		CAATTAATCAGACAGTGGACG	0.398000														70			20		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994627	144994627	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144994627C>T	uc021ouh.1	-	0	407	c.105G>A	c.(103-105)caG>caA	p.Q35Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Silent_p.Q35Q|PDE4DIP_uc001ell.2_Silent_p.Q38Q|PDE4DIP_uc001elm.4_Silent_p.Q3Q|PDE4DIP_uc001eln.4_Silent_p.Q101Q|PDE4DIP_uc001elo.3_Silent_p.Q172Q|PDE4DIP_uc001elw.4_Silent_p.Q35Q|PDE4DIP_uc001elx.4_Silent_p.Q101Q|PDE4DIP_uc001emd.2_Silent_p.Q35Q|PDE4DIP_uc001emc.2_Silent_p.Q35Q|PDE4DIP_uc001emg.2_Silent_p.Q35Q|PDE4DIP_uc021oui.1_Silent_p.Q38Q|PDE4DIP_uc021ouj.1_Silent_p.Q3Q|PDE4DIP_uc001emh.3_Silent_p.Q172Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	35					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CCTCATACTTCTGTTGCATGC	0.597000			T	PDGFRB	MPD									388			21		0	0	1	0	0
MCL1	4170	broad.mit.edu	37	1	150551721	150551721	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150551721G>A	uc001euz.3	-	0	494	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	MCL1_uc010pch.2_5'UTR|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_Silent_p.L96L	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			AAGAAAAGCAGCCTCGCGGGG	0.741000														32			12		0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194061981	194061981	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:194061981C>A	uc003fts.3	-	1	1541	c.1451G>T	c.(1450-1452)aGc>aTc	p.S484I	CPN2_uc021xix.1_Missense_Mutation_p.S484I	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	484					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CTCGGGGTTGCTGTAGGTGCA	0.662000														154			32		4.40665e-25	5.48893e-25	1	1	0
MRC2	9902	broad.mit.edu	37	17	60757183	60757183	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60757183G>A	uc002jad.3	+	13	2620	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	740	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGAGATCCACGAGCAGCACTG	0.632000														51			20		0	0	1	0	0
NPHP3	27031	broad.mit.edu	37	3	132423136	132423136	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132423136A>C	uc003epe.2	-	8	1534	c.1430T>G	c.(1429-1431)tTt>tGt	p.F477C	NPHP3_uc003epf.2_Missense_Mutation_p.F232C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	477					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACATCACCAAAATCATCTTC	0.413000														281			61		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34137128	34137128	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34137128C>T	uc001zhi.3	+	92	13432	c.13362C>T	c.(13360-13362)gaC>gaT	p.D4454D	RYR3_uc010bar.3_Silent_p.D4449D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4454					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTTTAATGACGAGGAAGAGG	0.458000														69			20		0	0	1	0	0
SPNS2	124976	broad.mit.edu	37	17	4436305	4436305	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4436305G>A	uc002fxx.2	+	6	1183	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_001124758	NP_001118230	Q8IVW8	SPNS2_HUMAN	Homo sapiens spinster homolog 2 (Drosophila) (SPNS2), mRNA.	323					lipid transport|transmembrane transport	integral to membrane				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						TGGCCACGTCGGCTGTCTCCT	0.667000														121			27		0	0	1	0	0
TNFAIP2	7127	broad.mit.edu	37	14	103597432	103597432	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103597432C>T	uc001ymm.1	+	5	1374	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L	TNFAIP2_uc010awo.1_Silent_p.L127L|TNFAIP2_uc010txz.1_Silent_p.L84L|TNFAIP2_uc010tya.1_5'Flank	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	415					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			AGGCAAGCAGCTGACGAATTA	0.557000														162			41		0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132636687	132636687	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132636687C>T	uc001ujz.1	+	13	1417	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	459					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		ATCAACCAGGCCCTGTCCATG	0.692000														68			10		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45807055	45807055	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45807055C>A	uc011bai.2	-	7	1401	c.1277G>T	c.(1276-1278)aGc>aTc	p.S426I	SLC6A20_uc003cow.3_Missense_Mutation_p.S76I|SLC6A20_uc011baj.2_Missense_Mutation_p.S389I	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	426					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGGCAGGTGGCTGGAGATGAT	0.632000														55			15		2.48551e-13	2.89355e-13	1	1	0
ZNF512B	57473	broad.mit.edu	37	20	62595140	62595140	+	Splice_Site	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62595140A>T	uc002yhl.1	-	9	1659	c.1605_splice	c.e9+1	p.K535_splice		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GAGCTGCCTTACCTTCTGACA	0.637000														307			60		0	0	1	0	0
KLHL23	151230	broad.mit.edu	37	2	170606212	170606212	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170606212T>A	uc002ufh.2	+	5	2022	c.1647T>A	c.(1645-1647)tcT>tcA	p.S549S	KLHL23_uc002ufi.2_Silent_p.S549S	NM_001199290	NP_001186219	Q8NBE8	KLH23_HUMAN	Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA.	549										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCATGCGGTCTCATGGGTGTG	0.378000														191			13		0	0	1	0	0
SPATA21	374955	broad.mit.edu	37	1	16731528	16731528	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16731528G>A	uc001ayn.3	-	7	1228	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	SPATA21_uc001ayl.1_Non-coding_Transcript|SPATA21_uc010occ.2_Missense_Mutation_p.L226F	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	Homo sapiens spermatogenesis associated 21 (SPATA21), mRNA.	249							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		CCCATTAGGAGCAGGATATTC	0.572000														85			14		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058970	152058970	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152058970A>T	uc001ezo.1	-	2	1253	c.1188T>A	c.(1186-1188)ggT>ggA	p.G396G		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	396							calcium ion binding	p.G396C(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GGGCCTCAGGACCTCTCCTCT	0.468000														241			56		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1255461	1255461	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1255461G>A	uc001lta.3	+	19	2463	c.2404G>A	c.(2404-2406)Gac>Aac	p.D802N	MUC5B_uc009yct.2_Missense_Mutation_p.D802N	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	802					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGTGTACCTGGACTGCAGCAA	0.687000														35			10		0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124465393	124465393	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:124465393G>A	uc003vlm.3	-	17	2306	c.1705C>T	c.(1705-1707)Cca>Tca	p.P569S	POT1_uc011koe.2_Non-coding_Transcript|POT1_uc003vlk.3_Non-coding_Transcript|POT1_uc003vll.3_Non-coding_Transcript|POT1_uc003vln.3_Non-coding_Transcript|POT1_uc003vlo.3_Missense_Mutation_p.P438S	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	569					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCTGATGCTGGAATCTGGAAG	0.294000														48			5		0	0	1	0	0
PRDX1	5052	broad.mit.edu	37	1	45977046	45977046	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45977046C>A	uc001coc.3	-	5	870	c.555G>T	c.(553-555)aaG>aaT	p.K185N	PRDX1_uc001cob.3_Missense_Mutation_p.K185N|PRDX1_uc001coa.3_Missense_Mutation_p.K185N|PRDX1_uc021omw.1_Missense_Mutation_p.K185N	NM_181696	NP_859048	Q06830	PRDX1_HUMAN	Homo sapiens peroxiredoxin 1 (PRDX1), transcript variant 2, mRNA.	185					cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GGACATCAGGCTTGATGGTAT	0.498000														301			56		1.38909e-20	1.6972e-20	1	1	0
ANKFN1	162282	broad.mit.edu	37	17	54520268	54520268	+	Missense_Mutation	SNP	C	T	T	rs145617071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54520268C>T	uc002iun.1	+	8	1117	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	361	Fibronectin type-III.							p.T361M(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTCAGACCACGACACCGGCA	0.483000														111			8		0	0	1	0	0
NFKB2	4791	broad.mit.edu	37	10	104156690	104156690	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104156690C>T	uc001kvb.3	+	5	538	c.273C>T	c.(271-273)atC>atT	p.I91I	NFKB2_uc001kva.3_Silent_p.I91I|NFKB2_uc010qqk.1_Silent_p.I91I|NFKB2_uc001kvd.3_Silent_p.I91I|NFKB2_uc009xxc.3_Silent_p.I91I	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	91	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CAGCCAAGATCGAGGTGGACC	0.597000			T	IGH@	B-NHL									75			17		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102641091	102641091	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102641091G>A	uc002tbm.3	+	6	1077	c.848G>A	c.(847-849)aGc>aAc	p.S283N	IL1R2_uc002tbn.3_Missense_Mutation_p.S283N|IL1R2_uc002tbo.1_Missense_Mutation_p.S283N	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	283	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CACATAGAGAGCGCCTACCCG	0.582000														139			26		0	0	1	0	0
MTO1	25821	broad.mit.edu	37	6	74201963	74201963	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:74201963C>T	uc010kav.3	+	10	1888	c.1764C>T	c.(1762-1764)ctC>ctT	p.L588L	MTO1_uc003pgy.4_Silent_p.L573L|MTO1_uc003pgz.4_Silent_p.L548L|MTO1_uc003pha.4_Silent_p.L210L|MTO1_uc003phb.4_Silent_p.L499L	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	573					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						GCAGAGCTCTCGATGTTCTGA	0.373000														78			18		0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153258977	153258977	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153258977A>G	uc003ims.3	-	4	1000	c.838T>C	c.(838-840)Ttc>Ctc	p.F280L	FBXW7_uc011cii.2_Missense_Mutation_p.F280L|FBXW7_uc003imt.3_Missense_Mutation_p.F280L|FBXW7_uc011cih.2_Missense_Mutation_p.F104L|FBXW7_uc003imq.3_Missense_Mutation_p.F200L|FBXW7_uc003imr.3_Missense_Mutation_p.F162L	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	280	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGAAATGAAGTCTCGTTGA	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									55			15		0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70252828	70252828	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70252828G>A	uc001xlr.2	-	1	687	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C		NM_003049	NP_003040	Q14973	NTCP_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 1 (SLC10A1), mRNA.	185					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		ATGACATAGCGCATGTATTGT	0.403000														99			20		0	0	1	0	0
TSSK1B	83942	broad.mit.edu	37	5	112770312	112770312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112770312G>A	uc003kqm.2	-	0	417	c.225C>T	c.(223-225)acC>acT	p.T75T	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	75	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		AGATCTCGTAGGTCTTAATGA	0.532000														100			30		0	0	1	0	0
PVRL2	5819	broad.mit.edu	37	19	45391366	45391366	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45391366G>T	uc002ozw.1	+	9	1738	c.1348_splice	c.e9-1	p.E450_splice		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	450					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCTACCTCCAGGAAATGCCTC	0.572000														144			34		2.68265e-12	3.09043e-12	1	1	0
TNK2	10188	broad.mit.edu	37	3	195593780	195593780	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195593780G>A	uc003fvu.1	-	13	3633	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	TNK2_uc003fvq.1_Silent_p.S439S|TNK2_uc003fvr.1_Silent_p.S557S|TNK2_uc003fvs.1_Silent_p.S1032S|TNK2_uc003fvt.1_Silent_p.S1078S	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	1030				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CAGGGCCCCAGGAGCCCAGAA	0.672000														47			7		0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100158175	100158175	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100158175G>A	uc001ygo.3	+	2	259	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	CYP46A1_uc001ygn.1_Silent_p.S34S	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	87					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CTCAGTCATCGTCACGAGTCC	0.532000														100			29		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953823	10953823	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10953823C>A	uc003bvz.3	+	6	974	c.940C>A	c.(940-942)Ctg>Atg	p.L314M		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	314					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TGCCATTTGCCTGGGCTGTCT	0.493000														202			49		1.83081e-24	2.27564e-24	1	1	0
BRD3	8019	broad.mit.edu	37	9	136901300	136901300	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136901300T>C	uc004cew.3	-	9	1978	c.1790A>G	c.(1789-1791)cAc>cGc	p.H597R	BRD3_uc004cex.2_3'UTR	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	597						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TTGGATGATGTGCACTACCCG	0.587000			T	C15orf55	lethal midline carcinoma of young people									147			29		0	0	1	0	0
FAM82A2	55177	broad.mit.edu	37	15	41029390	41029390	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41029390G>A	uc001zmp.1	-	11	1476	c.1291C>T	c.(1291-1293)Cta>Tta	p.L431L	FAM82A2_uc001zmo.1_Silent_p.L431L|FAM82A2_uc001zmq.1_Silent_p.L431L	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	431					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TTTTTCCCTAGTTCTCTGTAG	0.448000														323			63		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033811	30033811	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30033811T>G	uc021qfi.1	-	0	415	c.415A>C	c.(415-417)Agg>Cgg	p.R139R	KCNA4_uc001msk.3_Silent_p.R139R	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	139						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TAGTAAAACCTTCcctcctct	0.552000														87			13		0	0	1	0	0
SRRM4	84530	broad.mit.edu	37	12	119568613	119568613	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119568613C>A	uc001txa.2	+	7	1133	c.745C>A	c.(745-747)Ctt>Att	p.L249I		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	249	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCTCCAGATGCTTGGCTACCT	0.622000														51			19		2.35188e-11	2.67805e-11	1	1	0
PRLR	5618	broad.mit.edu	37	5	35065420	35065420	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35065420G>T	uc003jjm.3	-	9	2199	c.1640C>A	c.(1639-1641)gCc>gAc	p.A547D	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.A446D|PRLR_uc021xxl.1_3'UTR	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	547					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GGACACCTTGGCATACTCCTT	0.493000														113			14		2.31682e-05	2.42268e-05	1	1	0
KIF15	56992	broad.mit.edu	37	3	44872399	44872399	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44872399C>A	uc003cnx.4	+	25	3209	c.3060C>A	c.(3058-3060)aaC>aaA	p.N1020K	KIF15_uc010hiq.3_Missense_Mutation_p.N923K|KIF15_uc010hir.3_Missense_Mutation_p.N68K	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1020					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GCAAATACAACTCTGCTTTGG	0.383000														101			30		3.1745e-13	3.69426e-13	1	1	0
SCG2	7857	broad.mit.edu	37	2	224463404	224463404	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224463404T>A	uc021vxk.1	-	0	597	c.597A>T	c.(595-597)gaA>gaT	p.E199D	SCG2_uc002vnm.3_Missense_Mutation_p.E199D	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	199					MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAAGACAGATTCCAATGTAG	0.423000														220			41		0	0	1	0	0
PSTK	118672	broad.mit.edu	37	10	124742796	124742796	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124742796G>A	uc001lgy.1	+	2	957	c.517G>A	c.(517-519)Ggc>Agc	p.G173S		NM_153336	NP_699167	Q8IV42	PSTK_HUMAN	Homo sapiens phosphoseryl-tRNA kinase (PSTK), mRNA.	173							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		AGATTCGTTGGGCTTTTGCCA	0.383000														45			8		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877090	24877090	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24877090C>A	uc001wpf.4	+	2	532	c.214C>A	c.(214-216)Ctg>Atg	p.L72M		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	72					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCTGAAGGGCCTGTGCAGCCC	0.627000														161			41		8.16904e-11	9.23664e-11	1	1	0
LIMA1	51474	broad.mit.edu	37	12	50575758	50575758	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575758C>T	uc001rwj.4	-	9	1377	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	LIMA1_uc001rwg.4_Silent_p.E99E|LIMA1_uc001rwh.4_Silent_p.E240E|LIMA1_uc001rwi.4_Silent_p.E242E|LIMA1_uc001rwk.4_Silent_p.E402E|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	401	LIM zinc-binding.				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						CCAAGAGACGCTCCATTGGAT	0.483000														125			13		0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108109	26108109	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108109G>A	uc003ngj.3	-	0	256	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	71	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGCCAGCAGCGGCCAATGCCT	0.522000														139			39		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210480	100210480	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210480G>A	uc003uvq.3	+	1	268	c.66G>A	c.(64-66)cgG>cgA	p.R22R	MOSPD3_uc003uvr.3_Silent_p.R22R|MOSPD3_uc003uvs.3_Silent_p.R22R|MOSPD3_uc003uvt.3_Silent_p.R22R	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	22						integral to membrane	structural molecule activity	p.R22R(2)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					gggggtcccggggcgccccTC	0.731000														117			33		0	0	1	0	0
PHOX2B	8929	broad.mit.edu	37	4	41749444	41749444	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:41749444G>A	uc003gwf.4	-	1	711	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	117					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGTCTCCGCGAAGACCCTTT	0.622000			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					196			37		0	0	1	0	0
FAM75C1	441452	broad.mit.edu	37	9	90538150	90538150	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90538150C>A	uc010mqi.3	+	3	3357	c.3328C>A	c.(3328-3330)Cac>Aac	p.H1110N	FAM75C1_uc004apq.4_Missense_Mutation_p.H1093N|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CTACTCAGACCACAGCAGAAT	0.532000														276			12		2.27111e-07	2.44751e-07	1	1	0
PLEKHA7	144100	broad.mit.edu	37	11	16811333	16811333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16811333C>T	uc010rcu.1	-	21	3163	c.3148G>A	c.(3148-3150)Gcg>Acg	p.A1050T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A1049T|PLEKHA7_uc001mmm.3_Missense_Mutation_p.A152T|PLEKHA7_uc010rcv.2_Missense_Mutation_p.A624T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A758T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	1049					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			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						GGGAAGGTCGCCTTGCTGCTT	0.612000														61			11		0	0	1	0	0
ZIC2	7546	broad.mit.edu	37	13	100637299	100637299	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100637299C>A	uc001von.3	+	1	1468	c.1175C>A	c.(1174-1176)cCc>cAc	p.P392H		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	392					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCGATAAGCCCTATCTCTGC	0.632000														197			34		3.21399e-22	3.95801e-22	1	1	0
FXR2	9513	broad.mit.edu	37	17	7497589	7497589	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7497589T>C	uc002gia.2	-	9	1352	c.987A>G	c.(985-987)gaA>gaG	p.E329E		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	329						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CATTATCACCTTCCACTCGAA	0.478000														46			9		0	0	1	0	0
OR1K1	392392	broad.mit.edu	37	9	125563013	125563013	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125563013C>T	uc011lze.2	+	0	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TCACCGAGGGCGCCGCAGTGG	0.637000														164			44		0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84644469	84644469	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84644469A>G	uc003uic.3	-	13	1649	c.1609T>C	c.(1609-1611)Tat>Cat	p.Y537H	SEMA3D_uc010led.3_Missense_Mutation_p.Y537H|SEMA3D_uc003uib.3_Missense_Mutation_p.Y176H	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	537	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						GCTTTCCCATAAGTGTCGCAT	0.463000														128			37		0	0	1	0	0
NREP	9315	broad.mit.edu	37	5	111071197	111071197	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111071197T>C	uc011cvr.2	-	2	335	c.143A>G	c.(142-144)tAc>tGc	p.Y48C	NREP_uc011cvs.2_Missense_Mutation_p.Y38C|LOC100505678_uc021ych.1_Intron|NREP_uc003kpk.3_Non-coding_Transcript|NREP_uc003kpl.3_Missense_Mutation_p.Y4C|NREP_uc003kpm.3_Missense_Mutation_p.Y4C|NREP_uc011cvk.2_Missense_Mutation_p.Y4C|NREP_uc011cvl.2_Missense_Mutation_p.Y4C|NREP_uc011cvm.2_Missense_Mutation_p.Y4C|NREP_uc011cvn.2_Missense_Mutation_p.Y4C|NREP_uc011cvo.2_Missense_Mutation_p.Y4C|NREP_uc011cvp.2_Missense_Mutation_p.Y4C|NREP_uc011cvq.2_Missense_Mutation_p.Y4C	NM_001142475	NP_001135947	Q16612	NP311_HUMAN	Homo sapiens neuronal regeneration related protein homolog (rat) (NREP), transcript variant 3, mRNA.	4						cytoplasm											GAGTTCTGGGTAATAAACCTA	0.398000														88			6		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805556	1805556	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805556G>A	uc003gdr.3	+	7	1324	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.V356V|FGFR3_uc010icb.1_Silent_p.V164V|FGFR3_uc003gdt.1_Silent_p.V185V	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	356					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCTGGTGGTGCTGCCAGGTA	0.617000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					148			28		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137671958	137671958	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137671958G>A	uc004cfe.3	+	27	2778	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	799	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGGCCGATGGCATCCGTGGT	0.597000														211			45		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22283829	22283829	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22283829G>A	uc001mqi.2	+	15	2102	c.1785G>A	c.(1783-1785)gaG>gaA	p.E595E	ANO5_uc001mqj.2_Silent_p.E594E	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	595						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTTAATGAGTGGAGAAGTG	0.363000														98			17		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787054	137787054	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787054C>T	uc003erq.3	-	12	2134	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	591						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GGGCGTGGAGCGGGGGCGGAC	0.697000														145			34		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71041048	71041048	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71041048A>G	uc003xyn.1	-	16	3654	c.3492T>C	c.(3490-3492)agT>agC	p.S1164S	NCOA2_uc011lfb.1_Silent_p.S252S	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1164					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGTGGCATAACTAGGCCGCT	0.552000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									92			19		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157081170	157081170	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157081170T>C	uc003fbj.2	-	8	2137	c.1718A>G	c.(1717-1719)gAt>gGt	p.D573G	VEPH1_uc003fbk.2_Missense_Mutation_p.D573G|VEPH1_uc010hvu.2_Missense_Mutation_p.D573G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	573						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GGTACACTGATCAGGGACTGG	0.378000														167			37		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226809	2226809	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226809C>T	uc002lvc.1	+	12	2938	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	DOT1L_uc002lvb.4_Missense_Mutation_p.A1430V	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1430						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCATCTCTGCGGCGGCCGTG	0.746000														69			14		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64017505	64017505	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64017505T>G	uc002amp.3	-	17	3702	c.3554A>C	c.(3553-3555)gAc>gCc	p.D1185A	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1185					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTGAGGAGTGTCCATTTCTAC	0.448000														61			16		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38043498	38043498	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043498G>A	uc003ati.3	+	12	1907	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.R390H|SH3BP1_uc003ath.1_Missense_Mutation_p.R390H|SH3BP1_uc003atj.1_Missense_Mutation_p.R326H|SH3BP1_uc003atk.1_Missense_Mutation_p.R304H|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	390	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GTGTGCAGCCGCCTACCCCCC	0.701000														78			16		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160295624	160295624	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160295624C>A	uc002uao.3	-	6	1201	c.796G>T	c.(796-798)Gat>Tat	p.D266Y	BAZ2B_uc002uap.3_Missense_Mutation_p.D264Y|BAZ2B_uc002uas.1_Missense_Mutation_p.D203Y|BAZ2B_uc002uau.1_Missense_Mutation_p.D264Y|BAZ2B_uc002uaq.1_Missense_Mutation_p.D194Y|BAZ2B_uc002uat.4_Missense_Mutation_p.D203Y|BAZ2B_uc010fop.1_Missense_Mutation_p.D264Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						tctAGATCATCTGAATCACTG	0.373000														170			33		8.16721e-17	9.7615e-17	1	1	0
LPIN1	23175	broad.mit.edu	37	2	11922524	11922524	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11922524G>T	uc010yjm.2	+	8	1355	c.1302G>T	c.(1300-1302)gaG>gaT	p.E434D	LPIN1_uc010yjn.2_Missense_Mutation_p.E349D|LPIN1_uc002rbt.3_Missense_Mutation_p.E349D|LPIN1_uc002rbs.3_Missense_Mutation_p.E385D	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	349					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AAGACCTGGAGACCTTAGGAG	0.522000														108			24		3.28513e-13	3.82035e-13	1	1	0
TNC	3371	broad.mit.edu	37	9	117826947	117826947	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117826947G>A	uc004bjj.4	-	10	3878	c.3466C>T	c.(3466-3468)Ctc>Ttc	p.L1156F	TNC_uc010mvf.3_Missense_Mutation_p.L1156F|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1156	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGCAGAGAGCACTGGTGTT	0.512000														402			64		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106586057	106586057	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106586057G>A	uc021ser.1	-	1812		c.34170C>T			abParts_uc001ysv.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		GGTCCTGTGCGCCCCCTGCAG	0.537000														90			28		0	0	1	0	0
C7orf41	222166	broad.mit.edu	37	7	30174882	30174882	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30174882C>A	uc011kab.1	+	0	331	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	C7orf41_uc003tar.1_Missense_Mutation_p.L44M	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	Homo sapiens chromosome 7 open reading frame 41 (C7orf41), mRNA.	44										NS(1)|large_intestine(2)	3						CTTCTATGTGCTGTGTCCGGA	0.657000														26			4		1	1	1	1	0
TINAG	27283	broad.mit.edu	37	6	54173411	54173411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173411G>A	uc003pcj.2	+	0	209	c.63G>A	c.(61-63)aaG>aaA	p.K21K	TINAG_uc003pci.3_Silent_p.K21K|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	21					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			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)			GGATGGAGAAGCAGTATTTAT	0.403000														115			19		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121783678	121783678	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121783678C>A	uc001uag.3	-	3	676	c.554G>T	c.(553-555)aGa>aTa	p.R185I	ANAPC5_uc001uah.3_Missense_Mutation_p.R86I	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	185					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCCATTTTTCTTTCACCCTC	0.383000														235			43		1.8453e-21	2.26605e-21	1	1	0
BIRC6	57448	broad.mit.edu	37	2	32673919	32673919	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673919G>T	uc010ezu.3	+	21	4675	c.4541G>T	c.(4540-4542)gGc>gTc	p.G1514V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1514					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGATGAGTGGCTCTTCTTGT	0.338000														88			6		8.12818e-05	8.44191e-05	1	1	0
SESN3	143686	broad.mit.edu	37	11	94908712	94908712	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94908712T>C	uc001pfk.1	-	8	1564	c.1342A>G	c.(1342-1344)Aca>Gca	p.T448A	SESN3_uc010rug.1_Missense_Mutation_p.T309A	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	448					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		ATGCGTTTTGTAGTTCTCTCA	0.368000														105			21		0	0	1	0	0
FABP9	646480	broad.mit.edu	37	8	82370890	82370890	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82370890G>T	uc011lfo.2	-	2	295	c.295C>A	c.(295-297)Ctt>Att	p.L99I		NM_001080526	NP_001073995	Q0Z7S8	FABP9_HUMAN	Homo sapiens fatty acid binding protein 9, testis (FABP9), mRNA.	99							lipid binding|transporter activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	6			Epithelial(68;0.186)			TCTTTGCCAAGCCATTTTTGG	0.328000														55			5		0.014758	0.0149061	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21630818	21630818	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21630818G>A	uc003svc.3	+	13	2321	c.2290G>A	c.(2290-2292)Gac>Aac	p.D764N		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	764	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAAATCTTGACCTTCTTGT	0.383000									Kartagener syndrome					68			11		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68686880	68686880	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:68686880G>A	uc001jmz.1	+	1	756	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R69H	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	69						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TTGTCCCTTCGCTATAACAGC	0.398000														115			21		0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657759	143657759	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143657759A>C	uc003wds.1	+	0	740	c.696A>C	c.(694-696)gaA>gaC	p.E232D		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGTCCAGAGAAGGAAGAAAGA	0.493000														136			30		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3793016	3793016	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3793016C>T	uc001lyh.3	-	6	1167	c.746G>A	c.(745-747)gGc>gAc	p.G249D	NUP98_uc001lyi.3_Missense_Mutation_p.G249D|NUP98_uc001lyj.2_Missense_Mutation_p.G249D|NUP98_uc001lyk.2_Missense_Mutation_p.G249D|NUP98_uc010qxv.2_Missense_Mutation_p.G212D	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	249	Gly/Thr-rich.				DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATATGCAAAGCCTGAATTAGT	0.448000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									93			14		0	0	1	0	0
GPR56	9289	broad.mit.edu	37	16	57693425	57693425	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57693425A>G	uc002emb.2	+	11	1697	c.1405A>G	c.(1405-1407)Aca>Gca	p.T469A	GPR56_uc002elz.1_Missense_Mutation_p.T299A|GPR56_uc002ema.1_Missense_Mutation_p.T294A|GPR56_uc002emc.2_Missense_Mutation_p.T463A|GPR56_uc002emf.2_Missense_Mutation_p.T463A|GPR56_uc010vhs.1_Missense_Mutation_p.T469A|GPR56_uc002emd.2_Missense_Mutation_p.T463A|GPR56_uc002eme.2_Missense_Mutation_p.T463A|GPR56_uc010vht.1_Missense_Mutation_p.T468A|GPR56_uc002emg.3_Missense_Mutation_p.T463A|GPR56_uc010vhu.1_Missense_Mutation_p.T288A	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	469					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						GGTGGCCCTGACAGGCTCTGA	0.622000														157			42		0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876421	35876421	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35876421C>A	uc003jjs.3	+	7	1302	c.1213C>A	c.(1213-1215)Ctg>Atg	p.L405M	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	405					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCAGGACCTCCTGCTTAGCCT	0.542000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							97			21		1.55795e-14	1.83136e-14	1	1	0
WDR47	22911	broad.mit.edu	37	1	109554167	109554167	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109554167C>A	uc001dwl.3	-	4	898	c.522G>T	c.(520-522)gaG>gaT	p.E174D	WDR47_uc001dwi.3_Missense_Mutation_p.E167D|WDR47_uc001dwj.3_Missense_Mutation_p.E167D|WDR47_uc001dwk.2_Missense_Mutation_p.E139D|WDR47_uc010ovf.2_Missense_Mutation_p.E94D	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	167										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGACACAAGCCTCTTCAAAAC	0.433000														368			42		3.54909e-21	4.35023e-21	1	1	0
PMF1-BGLAP	100527963	broad.mit.edu	37	1	156203496	156203496	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156203496C>T	uc021pbb.1	+	2	373	c.345C>T	c.(343-345)ggC>ggT	p.G115G	PMF1-BGLAP_uc009wru.2_Non-coding_Transcript|PMF1-BGLAP_uc001fnr.3_Silent_p.G115G|PMF1-BGLAP_uc001fnq.3_Silent_p.G115G|PMF1-BGLAP_uc021pba.1_Silent_p.G117G|PMF1-BGLAP_uc021pbc.1_Silent_p.G115G|PMF1-BGLAP_uc001fns.2_Silent_p.G115G|PMF1-BGLAP_uc021pbd.1_Intron	NM_001199661	NP_001186590	Q6P1K2	PMF1_HUMAN	Homo sapiens PMF1-BGLAP readthrough (PMF1-BGLAP), transcript variant 1, mRNA.	115					cell division|chromosome segregation|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	MIS12/MIND type complex|cytosol|transcription factor complex	leucine zipper domain binding|transcription coactivator activity										TGGAAGAAGGCAAAGTCCGCA	0.458000														169			55		0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105695248	105695248	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105695248G>T	uc001yqp.2	-	6	1060	c.697C>A	c.(697-699)Ctc>Atc	p.L233I	BRF1_uc010tyo.1_Missense_Mutation_p.L118I|BRF1_uc010typ.1_Missense_Mutation_p.L118I|BRF1_uc001yql.2_Missense_Mutation_p.L29I|BRF1_uc001yqo.2_5'UTR|BRF1_uc010axg.1_Missense_Mutation_p.L206I|BRF1_uc001yqn.2_Non-coding_Transcript|BRF1_uc010axh.1_Non-coding_Transcript|BRF1_uc010axj.1_Non-coding_Transcript	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	233					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCAACCAGGAGCGCTGGAAGG	0.607000														386			116		1.89039e-43	2.40722e-43	1	1	0
BC019672	0	broad.mit.edu	37	17	20320023	20320023	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20320023A>C	uc002gwx.3	+	0		c.602A>C								Homo sapiens, clone IMAGE:4938453, mRNA.																		AATGCACCACACGTCAGCTCA	0.552000														121			23		0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126093973	126093973	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:126093973G>A	uc003yrt.3	-	4	777	c.448C>T	c.(448-450)Cta>Tta	p.L150L	KIAA0196_uc011lir.2_Silent_p.L2L	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	150					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATGACCAGTAGCATAACTCCA	0.408000														84			17		0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587930	55587930	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55587930C>T	uc010rin.2	+	0	825	c.825C>T	c.(823-825)gcC>gcT	p.A275A		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCAAAGTGGCCTCTGTGTTTT	0.498000														117			16		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39606846	39606846	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39606846G>A	uc003xnj.3	-	17	2074	c.1999C>T	c.(1999-2001)Cca>Tca	p.P667S	ADAM2_uc003xnk.3_Missense_Mutation_p.P648S|ADAM2_uc011lck.2_Missense_Mutation_p.P604S|ADAM2_uc003xnl.3_Missense_Mutation_p.P511S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	667					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGTCTGGCTGGTATAGCTACA	0.333000														106			22		0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27669044	27669044	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27669044C>T	uc003szf.3	-	3	643	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	HIBADH_uc003szg.3_Missense_Mutation_p.A95T|HIBADH_uc003szi.3_Missense_Mutation_p.A95T	NM_152740	NP_689953	P31937	3HIDH_HUMAN	Homo sapiens 3-hydroxyisobutyrate dehydrogenase (HIBADH), mRNA.	144					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACTTCTTTGGCCAATTCTTTT	0.333000														118			13		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64025296	64025296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64025296C>T	uc002amp.3	-	13	2843	c.2695G>A	c.(2695-2697)Gta>Ata	p.V899I	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	899					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGGGAGGCTACGTGGGTATGA	0.423000														138			28		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214354799	214354799	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:214354799A>C	uc002veq.3	+	9	1147	c.1055A>C	c.(1054-1056)gAa>gCa	p.E352A	SPAG16_uc010fuz.2_Missense_Mutation_p.E203A|SPAG16_uc002ver.3_Missense_Mutation_p.E298A|SPAG16_uc010zjk.2_Missense_Mutation_p.E258A	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	352					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGACTCCATGAACTTCCAGTG	0.323000														45			14		0	0	1	0	0
GRPEL1	80273	broad.mit.edu	37	4	7062618	7062618	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7062618C>T	uc003gjy.1	-	3	666	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GRPEL1_uc003gjz.1_3'UTR	NM_025196	NP_079472	Q9HAV7	GRPE1_HUMAN	Homo sapiens GrpE-like 1, mitochondrial (E. coli) (GRPEL1), nuclear gene encoding mitochondrial protein, mRNA.	209					protein folding|protein import into mitochondrial matrix	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CCCACCAGGGCGGGTCTCAGA	0.542000														434			18		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75107993	75107993	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75107993C>A	uc009xrc.3	-	5	471	c.350_splice	c.e5-1	p.G117_splice	TTC18_uc001jty.3_Splice_Site_p.G117_splice|TTC18_uc009xrd.1_Intron	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	117				G -> V (in Ref. 1; CAH10391).			binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAACTCTGTCCTGCAAAAAG	0.443000														79			18		5.3912e-06	5.69533e-06	1	1	0
DCP1B	196513	broad.mit.edu	37	12	2062369	2062369	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062369G>T	uc001qjx.1	-	6	817	c.737C>A	c.(736-738)cCt>cAt	p.P246H	DCP1B_uc010sdy.1_Missense_Mutation_p.P144H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	246					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AGTCTGCGGAGGCTCCACAGT	0.527000														112			20		1.2644e-06	1.3491e-06	1	1	0
ODZ2	57451	broad.mit.edu	37	5	167674181	167674181	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674181C>A	uc010jjd.3	+	26	6210	c.6210C>A	c.(6208-6210)ttC>ttA	p.F2070L	ODZ2_uc003lzr.4_Missense_Mutation_p.F1840L|ODZ2_uc003lzt.4_Missense_Mutation_p.F1443L|ODZ2_uc010jje.3_Missense_Mutation_p.F1334L	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.F1912L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TCTACAGGTTCTCCGAGGAAG	0.542000														176			44		5.44703e-19	6.60141e-19	1	1	0
SLC38A8	146167	broad.mit.edu	37	16	84050168	84050168	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84050168C>T	uc002fhg.1	-	7	1118	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	373					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCGATGATGCTGACGATCTC	0.587000														116			27		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626928	140626928	+	Silent	SNP	C	T	T	rs113508999		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140626928C>T	uc003lje.3	+	0	1782	c.1782C>T	c.(1780-1782)ggC>ggT	p.G594G		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	594	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGGACGGCGACTCGGGCC	0.721000														211			42		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117241887	117241887	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117241887G>A	uc001prc.3	+	8	1004	c.857G>A	c.(856-858)aGc>aAc	p.S286N	CEP164_uc001prb.3_Missense_Mutation_p.S286N|CEP164_uc010rxk.1_Missense_Mutation_p.S260N|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	286					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AAGCCCTCCAGCCCAGGTGCA	0.552000														193			36		0	0	1	0	0
HIST1H1T	3010	broad.mit.edu	37	6	26108003	26108003	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26108003C>T	uc003ngj.3	-	0	362	c.319G>A	c.(319-321)Ggt>Agt	p.G107S		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	107	H15.				cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						TTAAAGGAACCGGAAGCACCA	0.463000														129			30		0	0	1	0	0
POLR3B	55703	broad.mit.edu	37	12	106772100	106772100	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106772100G>A	uc001tlp.3	+	7	774	c.552G>A	c.(550-552)ctG>ctA	p.L184L	POLR3B_uc001tlq.3_Silent_p.L126L	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	184					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AAGAGCAGCTGTCTAAGAACA	0.413000														130			32		0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62760994	62760994	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62760994G>T	uc009yon.3	-	9	1552	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Silent_p.I354I|SLC22A8_uc001nwo.3_Silent_p.I477I|SLC22A8_uc010rmm.2_Silent_p.I386I|SLC22A8_uc001nwp.2_Silent_p.I477I	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	477					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGATCCCGTAGATGATATTGG	0.582000														179			34		8.16721e-17	9.7615e-17	1	1	0
PIK3R6	146850	broad.mit.edu	37	17	8741937	8741937	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8741937G>A	uc002glq.1	-	3	373	c.133C>T	c.(133-135)Cga>Tga	p.R45*	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	45					platelet activation	cytosol											CCGGGATCTCGCTCGACCTTC	0.592000														17			3		0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50786656	50786656	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50786656G>A	uc003pag.3	+	0	218	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	18					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAAGCTTGTGGAGAATGTCAA	0.483000														75			10		0	0	1	0	0
FDX1	2230	broad.mit.edu	37	11	110327671	110327671	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110327671A>G	uc001pkx.3	+	2	524	c.340A>G	c.(340-342)Acc>Gcc	p.T114A		NM_004109	NP_004100	P10109	ADX_HUMAN	Homo sapiens ferredoxin 1 (FDX1), nuclear gene encoding mitochondrial protein, mRNA.	114	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|iron ion binding			lung(2)	2		all_cancers(61;1.59e-12)|all_epithelial(67;8.38e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;5.27e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0384)|Colorectal(284;0.228)	Mitotane(DB00648)	GGCTTGTTCAACCTGTCACCT	0.438000														254			61		0	0	1	0	0
C16orf70	80262	broad.mit.edu	37	16	67168323	67168323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67168323G>A	uc002erd.3	+	7	778	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C16orf70_uc002erc.3_Missense_Mutation_p.R205Q|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	205										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GATGTTCTTCGAGATGGAACT	0.512000														372			82		0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146643671	146643671	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146643671G>A	uc001epe.3	-	1	198	c.53C>T	c.(52-54)gCt>gTt	p.A18V	PRKAB2_uc010ozm.2_5'UTR|PRKAB2_uc010ozn.2_5'UTR|PRKAB2_uc009wjf.1_Missense_Mutation_p.A18V	NM_005399	NP_005390	O43741	AAKB2_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 2 non-catalytic subunit (PRKAB2), mRNA.	18					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GGAGCGTGCAGCCTTGGCGCC	0.701000														27			10		0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52181054	52181054	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52181054C>T	uc003dcu.3	-	4	831	c.513G>A	c.(511-513)ctG>ctA	p.L171L	POC1A_uc003dcv.3_Silent_p.L133L|POC1A_uc003dcw.3_Silent_p.L171L	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	171						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TCTTGTCCCACAGCTTAACAG	0.582000														160			24		0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11797423	11797423	+	Missense_Mutation	SNP	G	A	A	rs144927894		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11797423G>A	uc001ikw.4	+	3	627	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	ECHDC3_uc009xix.3_Missense_Mutation_p.R5Q	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA.	136						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						ATGCACATCCGGAACCACCCC	0.537000														116			25		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152128896	152128896	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152128896C>T	uc001ezs.1	-	2	744	c.679G>A	c.(679-681)Gcc>Acc	p.A227T		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	227	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.A227T(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CGATTTAAGGCAAAGATATGT	0.413000														307			115		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31329913	31329913	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31329913C>A	uc021sia.1	-	19	2936	c.2622_splice	c.e19+1	p.T874_splice	TRPM1_uc010azy.3_Splice_Site_p.T742_splice|TRPM1_uc001zfl.3_Splice_Site|TRPM1_uc021shz.1_Splice_Site_p.T857_splice|TRPM1_uc001zfm.3_Splice_Site_p.T835_splice	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	835					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.?(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGGCCTCACTGTGTAAAAC	0.373000														98			27		1.88708e-17	2.26542e-17	1	1	0
HPD	3242	broad.mit.edu	37	12	122281734	122281734	+	Missense_Mutation	SNP	C	T	T	rs140144597	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122281734C>T	uc001ubj.3	-	11	876	c.836G>A	c.(835-837)cGc>cAc	p.R279H	HPD_uc001ubk.3_Missense_Mutation_p.R240H	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	279					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCTCAAGTGGCGAATCTGTTT	0.537000														71			13		0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123842597	123842597	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842597C>T	uc001lfv.3	+	3	942	c.582C>T	c.(580-582)atC>atT	p.I194I	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.I194I|TACC2_uc010qtv.2_Silent_p.I194I	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	194						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGTGGCATCGACCAGTCAC	0.567000														67			8		0	0	1	0	0
FCAR	2204	broad.mit.edu	37	19	55401222	55401222	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55401222G>A	uc002qhr.1	+	4	1054	c.857G>A	c.(856-858)tGc>tAc	p.C286Y	FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.C237Y|FCAR_uc010esi.1_Missense_Mutation_p.C163Y|FCAR_uc002qhu.1_Missense_Mutation_p.C190Y|FCAR_uc002qhv.1_Missense_Mutation_p.C264Y|FCAR_uc002qhw.1_Missense_Mutation_p.C274Y|FCAR_uc002qhx.1_Missense_Mutation_p.C178Y|FCAR_uc002qhy.1_Missense_Mutation_p.C252Y|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Missense_Mutation_p.C177Y	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.	286					immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		CCAAGTGTCTGCAAGTAAACA	0.522000														196			48		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38959659	38959659	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38959659C>T	uc002oit.3	+	25	3565	c.3435C>T	c.(3433-3435)ggC>ggT	p.G1145G	RYR1_uc002oiu.3_Silent_p.G1145G	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1145	6 X approximate repeats.|B30.2/SPRY 2.				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)	GGCAGCCGGGCGATGTCGTTG	0.582000														124			22		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236749565	236749565	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236749565G>T	uc001hyd.2	-	14	2055	c.1903C>A	c.(1903-1905)Cct>Act	p.P635T		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	635					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTAATAGAGGGTGCAGGGAG	0.308000														67			11		6.40141e-05	6.6609e-05	1	1	0
MYH15	22989	broad.mit.edu	37	3	108214643	108214643	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214643T>C	uc003dxa.1	-	7	812	c.755A>G	c.(754-756)gAc>gGc	p.D252G		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	252	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGAGGAGTTGTCATTTCTCAG	0.348000														32			4		0	0	1	0	0
NME1-NME2	654364	broad.mit.edu	37	17	49244308	49244308	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49244308G>A	uc002itk.3	+	5	813	c.537G>A	c.(535-537)aaG>aaA	p.K179K	NME1-NME2_uc002itj.3_Silent_p.K154K|NME1-NME2_uc002itl.3_Silent_p.K39K|NME1-NME2_uc002itm.3_Silent_p.K39K|NME1-NME2_uc021uae.1_Silent_p.K39K|NME1-NME2_uc002itn.3_Silent_p.K39K|NME1-NME2_uc002ito.3_Silent_p.K39K	NM_002512	NP_002503	P22392	NDKB_HUMAN	Homo sapiens non-metastatic cells 2, protein (NM23B) expressed in (NME2), transcript variant 1, mRNA.	39					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell adhesion|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TGGCCATGAAGTTCCTCCGGG	0.667000											OREG0024580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		167			31		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150930355	150930355	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930355G>T	uc003lue.4	-	6	4387	c.4374C>A	c.(4372-4374)ccC>ccA	p.P1458P		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1458	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGTGTCCTGGGGAACTCTGA	0.527000														73			15		3.27435e-08	3.57295e-08	1	1	0
KANK4	163782	broad.mit.edu	37	1	62739298	62739298	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62739298C>A	uc001dah.4	-	2	1855	c.1478G>T	c.(1477-1479)aGc>aTc	p.S493I	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	493										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GGAGAGGAAGCTATGTACAGA	0.577000														193			51		3.39706e-21	4.16481e-21	1	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103158293	103158293	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:103158293G>T	uc001phn.1	+	75	11219	c.11075G>T	c.(11074-11076)aGa>aTa	p.R3692I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.R3685I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	3685	AAA 6 (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGACCGGACAGATTGCAAAGT	0.323000														33			6		0.248553	0.24885	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206110532	206110532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206110532C>T	uc002var.2	+	15	2378	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	PARD3B_uc010fub.2_Missense_Mutation_p.A724V|PARD3B_uc002vao.2_Missense_Mutation_p.A724V|PARD3B_uc002vap.2_Missense_Mutation_p.A662V|PARD3B_uc002vaq.2_Missense_Mutation_p.A724V	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	724					cell cycle|cell division	endomembrane system|tight junction		p.A662V(1)|p.A724V(1)|p.A663V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CACTCATTGGCTGGACAAAAA	0.393000														54			28		0	0	1	0	0
PSMC4	5704	broad.mit.edu	37	19	40486618	40486618	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40486618T>C	uc002omq.3	+	9	1174	c.1137T>C	c.(1135-1137)tgT>tgC	p.C379C	PSMC4_uc002omr.3_Silent_p.C348C	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	379					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					ACTCCATCTGTCAGGAGGTAA	0.532000														183			30		0	0	1	0	0
KISS1	3814	broad.mit.edu	37	1	204159862	204159862	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204159862C>T	uc001har.3	-	2	321	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	56					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		AGCTGGCTTCCTCTCGGTGCA	0.726000														49			8		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88677771	88677771	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88677771C>T	uc010voz.2	+	8	1574	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R	ZC3H18_uc021tmm.1_Nonsense_Mutation_p.R431*|ZC3H18_uc010voy.1_Silent_p.R317R|ZC3H18_uc002fky.3_Silent_p.R434R|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	434						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		agagggagcgcgagcgagagc	0.711000														13			7		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945465	48945465	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945465C>T	uc002pjc.4	+	11	2587	c.2499C>T	c.(2497-2499)atC>atT	p.I833I	GRIN2D_uc010elx.3_Silent_p.I68I	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	833						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	ATGACAAAATCGAGGTGATGA	0.582000														338			76		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147380849	147380849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147380849C>T	uc021ovm.1	+	0	767	c.767C>T	c.(766-768)gCt>gTt	p.A256V	GJA8_uc001epu.2_Missense_Mutation_p.A256V	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	256					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CACTCCATTGCTGTCTCCTCC	0.562000														119			26		0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72956031	72956031	+	Splice_Site	SNP	G	A	A	rs144555805	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72956031G>A	uc002jmj.4	-	8	1101	c.952_splice	c.e8-1	p.P318_splice	C17orf28_uc010wrs.2_Splice_Site_p.P117_splice|C17orf28_uc002jmk.2_Splice_Site_p.P317_splice	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	318						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGGCCTGGAGGCTGCCAAGA	0.622000														197			52		0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36041836	36041836	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36041836C>T	uc001wtj.3	-	36	6171	c.5780G>A	c.(5779-5781)gGt>gAt	p.G1927D	RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.G1927D|RALGAPA1_uc010tpv.2_Missense_Mutation_p.G1940D|RALGAPA1_uc010tpw.1_Missense_Mutation_p.G1974D	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	1927	Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	Ral GTPase activator activity|protein heterodimerization activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGACATCACCAAATTCTGT	0.348000														58			18		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	65225411	65225411	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:65225411C>T	uc001jmn.3	-	0	312	c.12G>A	c.(10-12)gaG>gaA	p.E4E	JMJD1C_uc001jmr.1_Silent_p.E4E|LOC84989_uc010qir.2_Silent_p.V38V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	4					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.V3V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CTGCCCGCGTCTCTACCGCCA	0.677000														67			9		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49059316	49059316	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49059316C>T	uc001zwz.3	-	16	2414	c.2221G>A	c.(2221-2223)Gat>Aat	p.D741N	CEP152_uc001zwy.3_Missense_Mutation_p.D741N|CEP152_uc001zxa.2_Missense_Mutation_p.D648N	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	741					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTAGATTATCCTTCTCTCTG	0.418000														189			40		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189917698	189917698	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189917698C>T	uc002uqk.3	-	38	2875	c.2600G>A	c.(2599-2601)gGa>gAa	p.G867E	COL5A2_uc010frx.3_Missense_Mutation_p.G443E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	867					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCCTTCTGTCCTGGCTCTCC	0.433000														75			12		0	0	1	0	0
CDIPT	10423	broad.mit.edu	37	16	29870526	29870526	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29870526C>T	uc002duk.3	-	3	850	c.698G>A	c.(697-699)cGc>cAc	p.R233H	BOLA2_uc010bzb.1_Intron|CDIPT_uc002dul.3_Missense_Mutation_p.R181H|CDIPT_uc002dum.3_Missense_Mutation_p.R209H|CDIPT_uc002dun.3_Missense_Mutation_p.R164H	NM_006319	NP_006310	O14735	CDIPT_HUMAN	Homo sapiens CDP-diacylglycerol--inositol 3-phosphatidyltransferase (CDIPT), mRNA.	209						Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity			endometrium(1)|lung(3)	4						CTTCTTGGCGCGGTCTGCTGC	0.667000														21			7		0	0	1	0	0
HNRNPA1L2	144983	broad.mit.edu	37	13	53217583	53217583	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53217583G>T	uc001vgx.1	+	6	2029	c.956G>T	c.(955-957)aGa>aTa	p.R319I	HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.R319I|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.R319I|HNRNPA1L2_uc021rjy.1_Missense_Mutation_p.R319I	NM_001011724	NP_001011725	Q32P51	RA1L2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A1-like 2 (HNRNPA1L2), transcript variant 1, mRNA.	319					RNA splicing|mRNA processing|mRNA transport	cytoplasm|spliceosomal complex	RNA binding|nucleotide binding			cervix(1)|large_intestine(1)|lung(5)	7						AGTGGCAGAAGATTTTAATTA	0.493000														68			18		2.94398e-08	3.21697e-08	1	1	0
ADCY10	55811	broad.mit.edu	37	1	167874257	167874257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167874257C>T	uc001ger.3	-	1	420	c.122G>A	c.(121-123)gGa>gAa	p.G41E	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_5'UTR|ADCY10_uc009wvl.3_Missense_Mutation_p.G41E|ADCY10_uc009wvm.2_Non-coding_Transcript	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	41					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CATCAGGACTCCGTCAAAATA	0.453000														109			28		0	0	1	0	0
ASF1B	55723	broad.mit.edu	37	19	14231410	14231410	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14231410A>G	uc002mye.3	-	3	642	c.470T>C	c.(469-471)aTg>aCg	p.M157T	PRKACA_uc002myc.3_5'Flank	NM_018154	NP_060624	Q9NVP2	ASF1B_HUMAN	Homo sapiens ASF1 anti-silencing function 1 homolog B (S. cerevisiae) (ASF1B), mRNA.	157					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						CAGCCTGTCCATGTTGTTGTC	0.617000														102			16		0	0	1	0	0
PHF10	55274	broad.mit.edu	37	6	170104118	170104118	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170104118T>G	uc011egy.2	-	11	1557	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_3'UTR|PHF10_uc011egz.2_Missense_Mutation_p.K491T	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	493					nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TTTGCTGTTTTTCCCCCTTCT	0.378000														76			17		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15601859	15601859	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15601859C>T	uc002rcc.1	-	19	2180	c.2154G>A	c.(2152-2154)aaG>aaA	p.K718K	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	718										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TTCTGAATTTCTTAAAGAATT	0.308000														21			5		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111621261	111621261	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111621261C>T	uc003puy.4	-	31	9692	c.9351G>A	c.(9349-9351)ttG>ttA	p.L3117L	REV3L_uc003pux.4_Silent_p.L3039L|REV3L_uc003puz.4_Silent_p.L3039L|REV3L_uc003puw.4_Silent_p.L184L	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	3117					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTGCCTTGGACAATTCTCTAT	0.393000								DNA polymerases (catalytic subunits)						107			26		0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407555	407555	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407555G>A	uc001lpg.3	-	4	648	c.495C>T	c.(493-495)taC>taT	p.Y165Y	SIGIRR_uc001lpd.2_Silent_p.Y165Y|SIGIRR_uc001lpf.2_Silent_p.Y165Y|SIGIRR_uc001lpe.1_Silent_p.Y165Y			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	165	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGTAGGCGTCGTAGAGCTTCC	0.652000														35			5		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129305525	129305525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129305525C>T	uc003emx.2	-	2	1626	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	509	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCACCACCCGCCTGCTCAC	0.612000														20			5		0	0	1	0	0
UBTD2	92181	broad.mit.edu	37	5	171638977	171638977	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171638977C>T	uc003mbp.1	-	2	688	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K		NM_152277	NP_689490	Q8WUN7	UBTD2_HUMAN	Homo sapiens ubiquitin domain containing 2 (UBTD2), mRNA.	188	Ubiquitin-like.					cytoplasm				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00976)|all_lung(126;0.0156)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTACCTGGTTCCACTCCCTCT	0.488000														217			42		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948212	15948212	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948212G>A	uc002wou.3	+	12	1186	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K	MACROD2_uc002wot.3_Missense_Mutation_p.E308K|MACROD2_uc002woz.3_Missense_Mutation_p.E73K|MACROD2_uc002wpb.3_Missense_Mutation_p.E73K	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	308	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TGCAAAGGATGAAAATATTAC	0.358000														93			17		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45444185	45444185	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45444185G>A	uc001zus.1	+	24	3474	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H	DUOX1_uc001zut.1_Missense_Mutation_p.R1043H|DUOX1_uc010bee.1_Missense_Mutation_p.R423H|DUOX1_uc001zuu.3_Missense_Mutation_p.R185H	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1043	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.R1042L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AACTACCGGCGCCACATCGGC	0.587000														98			20		0	0	1	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655298	139655298	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139655298G>A	uc011kqv.2	+	7	956	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	TBXAS1_uc003vvh.3_Missense_Mutation_p.A195T|TBXAS1_uc010lne.3_Missense_Mutation_p.A127T|TBXAS1_uc011kqu.2_Missense_Mutation_p.A146T|TBXAS1_uc003vvi.3_Missense_Mutation_p.A195T|TBXAS1_uc011kqw.2_Missense_Mutation_p.A175T|TBXAS1_uc003vvj.3_Missense_Mutation_p.A195T	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	194					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					TGCCAGCGTCGCCTTTGGCAC	0.567000														225			52		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324735	9324735	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324735G>A	uc001apt.3	+	4	2456	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	728	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCACACCGCCGCATGAGCCTT	0.657000														74			13		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102159023	102159023	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102159023G>A	uc001tit.3	-	12	1864	c.1672C>T	c.(1672-1674)Cca>Tca	p.P558S		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	558					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCACCTTTTGGAATAATATAG	0.358000														133			26		0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863365	64863365	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64863365C>A	uc021viq.1	-	0	641	c.641G>T	c.(640-642)aGc>aTc	p.S214I	SERTAD2_uc002sde.2_Missense_Mutation_p.S214I	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	214					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						ATCTGCGCGGCTCTCTTGAGG	0.567000														204			41		1.57019e-19	1.90796e-19	1	1	0
CRMP1	1400	broad.mit.edu	37	4	5857930	5857930	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5857930C>T	uc003gis.3	-	3	849	c.760G>A	c.(760-762)Gac>Aac	p.D254N	CRMP1_uc003giq.3_Missense_Mutation_p.D140N|CRMP1_uc003gir.3_Missense_Mutation_p.D135N	NM_001014809	NP_001014809	Q14194	DPYL1_HUMAN	Homo sapiens collapsin response mediator protein 1 (CRMP1), transcript variant 1, mRNA.	140					axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CTTGTGATGTCCACGTGGAGG	0.552000														84			21		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46930768	46930768	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930768G>A	uc003gxg.3	-	8	2122	c.1139C>T	c.(1138-1140)aCa>aTa	p.T380I	GABRA4_uc021xnz.1_Missense_Mutation_p.T361I|GABRA4_uc021xoa.1_Missense_Mutation_p.T310I	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	380					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTGGCATTTGTATTCTGAAA	0.308000														38			8		0	0	1	0	0
NAA38	51691	broad.mit.edu	37	7	117828431	117828431	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117828431G>T	uc003vjg.3	+	2	364	c.172G>T	c.(172-174)Gga>Tga	p.G58*		NM_016200	NP_057284	O95777	NAA38_HUMAN	Homo sapiens N(alpha)-acetyltransferase 38, NatC auxiliary subunit (NAA38), mRNA.	58					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	U6 snRNA binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						AGTGGTACTAGGATTATACAT	0.368000														51			16		6.72482e-11	7.60803e-11	1	1	0
ZNF497	162968	broad.mit.edu	37	19	58867645	58867645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58867645G>A	uc002qsh.2	-	2	1640	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	A1BG_uc002qsd.4_5'Flank|A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.R453C|ZNF497_uc021vcw.1_Missense_Mutation_p.R453C|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCCGACTTGCGCACGAAGGCC	0.682000														32			4		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2189854	2189854	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2189854G>A	uc001lvq.3	-	3	466	c.447C>T	c.(445-447)gcC>gcT	p.A149A	TH_uc001lvp.3_Silent_p.A145A|TH_uc001lvr.3_Silent_p.A118A|TH_uc010qxj.2_Silent_p.A122A|TH_uc001lvs.3_Silent_p.A118A|TH_uc001lvt.3_Silent_p.A122A|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	149					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCGGCCTCTGGGCGGGCCGGG	0.622000														70			24		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49675021	49675021	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49675021G>T	uc002pmw.3	+	7	1153	c.1045G>T	c.(1045-1047)Gcc>Tcc	p.A349S	TRPM4_uc010emu.3_Missense_Mutation_p.A349S|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.A175S|TRPM4_uc010emv.3_Missense_Mutation_p.A234S|TRPM4_uc010yal.2_Missense_Mutation_p.A66S	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	349					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTCCTGCAGGCCCAGGTATG	0.642000														54			13		2.27111e-07	2.44751e-07	1	1	0
HRH2	3274	broad.mit.edu	37	5	175110875	175110875	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175110875C>A	uc003mdc.4	+	1	1283	c.639C>A	c.(637-639)gcC>gcA	p.A213A	HRH2_uc003mdd.2_Silent_p.A213A	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	213					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGGATCAGGCCAAGAGGATCA	0.572000														177			19		2.4624e-09	2.73094e-09	1	1	0
CDCA5	113130	broad.mit.edu	37	11	64847051	64847051	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64847051G>A	uc001ocp.2	-	4	617	c.452C>T	c.(451-453)aCc>aTc	p.T151I		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	151					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						AGAGCCCAGGGTCTCCAGCCG	0.632000														77			16		0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	54265951	54265951	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54265951A>C	uc003haa.3	+	9	946	c.760A>C	c.(760-762)Aaa>Caa	p.K254Q	PDGFRA_uc003gzx.4_Missense_Mutation_p.K239Q|PDGFRA_uc011bzt.1_Missense_Mutation_p.K254Q|PDGFRA_uc003gzy.3_Missense_Mutation_p.K254Q|PDGFRA_uc011bzu.2_Missense_Mutation_p.K239Q|PDGFRA_uc003gzz.3_Missense_Mutation_p.K216Q|PDGFRA_uc003hab.3_Missense_Mutation_p.K219Q|PDGFRA_uc010ign.3_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	0	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCATCTACAAAAGCTGAGTT	0.388000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				102			20		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2748989	2748989	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2748989G>A	uc003jda.3	-	2	1075	c.833C>T	c.(832-834)gCg>gTg	p.A278V	IRX2_uc003jdb.3_Missense_Mutation_p.A278V	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	278						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTGGGCGGCGCCAGGCCCCG	0.746000														54			12		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140952524	140952524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140952524C>T	uc004cog.3	+	27	4275	c.4130C>T	c.(4129-4131)gCc>gTc	p.A1377V	CACNA1B_uc022bqn.1_Missense_Mutation_p.A1377V|CACNA1B_uc011mfd.2_Missense_Mutation_p.A978V|CACNA1B_uc004coi.3_Missense_Mutation_p.A591V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1377					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCCGTGGATGCCACCTATGAG	0.547000														112			24		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132502101	132502101	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132502101C>T	uc001ujn.3	+	19	4097	c.3945C>T	c.(3943-3945)agC>agT	p.S1315S	EP400_uc021rgq.1_Silent_p.S1314S|EP400_uc001ujm.3_Silent_p.S1315S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1351	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCTTGAAGAGCGGGCACTTTG	0.597000														200			49		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134272	128134272	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134272G>A	uc011ebt.2	-	3	1663	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	THEMIS_uc010kfa.3_Missense_Mutation_p.P408L|THEMIS_uc021zfa.1_Missense_Mutation_p.P505L|THEMIS_uc010kfb.3_Missense_Mutation_p.P470L	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	505	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCGGCCCACAGGAATTTCCCA	0.478000														127			22		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134366949	134366949	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134366949C>T	uc004can.4	+	27	6418	c.6363C>T	c.(6361-6363)gtC>gtT	p.V2121V	PRRC2B_uc004cao.4_Silent_p.V1478V|PRRC2B_uc004cap.4_Silent_p.V267V|PRRC2B_uc011mch.2_Silent_p.V44V	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	2121							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGCCGCCAGTCCTGAACACCA	0.622000														61			7		0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653581	43653581	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43653581A>C	uc001zrk.1	-	4	2396	c.2249T>G	c.(2248-2250)aTc>aGc	p.I750S	ZSCAN29_uc001zrj.1_Missense_Mutation_p.I630S|ZSCAN29_uc010bdg.1_Missense_Mutation_p.I360S|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	750					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTGGTGAATGATAAGGCTTGA	0.423000														143			34		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	219000157	219000157	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219000157A>G	uc002vgz.2	+	3	843	c.633A>G	c.(631-633)ttA>ttG	p.L211L	CXCR2_uc002vha.2_Silent_p.L211L|CXCR2_uc002vhb.2_Silent_p.L211L|CXCR2_uc021vwp.1_Silent_p.L211L	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	211					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						GGATGCTGTTACGGATCCTGC	0.537000														304			16		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124332579	124332579	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124332579C>T	uc001uft.4	+	31	5557	c.5532C>T	c.(5530-5532)gaC>gaT	p.D1844D		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1844	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCACCAAGGACCTGGCGAAAG	0.552000														240			51		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36185695	36185695	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36185695C>T	uc003olv.4	+	9	3214	c.2990_splice	c.e9-1	p.G997_splice	BRPF3_uc010jwb.3_Splice_Site_p.G727_splice|BRPF3_uc011dtj.2_Splice_Site|BRPF3_uc010jwc.3_Splice_Site|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_Splice_Site	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	997					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding	p.G997G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCTTGGCAGGCATGACCAACG	0.537000														85			19		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275525	130275525	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130275525G>T	uc001qgg.4	-	8	2956	c.2598C>A	c.(2596-2598)gcC>gcA	p.A866A	ADAMTS8_uc001qgf.3_Silent_p.A347A	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	866	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGTGGCAGAGGCCTGGCCGG	0.662000														199			48		4.14194e-30	5.21387e-30	1	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12266843	12266843	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12266843C>T	uc001att.3	+	9	1241	c.1152C>T	c.(1150-1152)atC>atT	p.I384I	TNFRSF1B_uc001atu.3_Silent_p.I189I|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	384					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCACCTGCATCGTGAACGTCT	0.617000														118			26		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724340	7724340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724340G>A	uc001aoi.3	+	8	1940	c.1733G>A	c.(1732-1734)aGc>aAc	p.S578N		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	578					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGAGTCCCAGCACCACCCTG	0.672000			T	WWTR1	epitheliod hemangioendothelioma									198			25		0	0	1	0	0
ZNF558	148156	broad.mit.edu	37	19	8932760	8932760	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8932760A>C	uc002mkn.1	-	1	269	c.39T>G	c.(37-39)tcT>tcG	p.S13S	ZNF558_uc010xkh.1_5'Flank|ZNF558_uc010dwg.1_Silent_p.S13S	NM_144693	NP_653294	Q96NG5	ZN558_HUMAN	Homo sapiens zinc finger protein 558 (ZNF558), mRNA.	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						GGAACAGGGAAGACGGAGCTG	0.557000														100			27		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50788095	50788095	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50788095C>T	uc001zym.4	+	17	3209	c.2709C>T	c.(2707-2709)gaC>gaT	p.D903D	USP8_uc001zyl.4_Silent_p.D903D|USP8_uc001zyn.4_Silent_p.D903D|USP8_uc010ufh.2_Silent_p.D797D|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.D70D	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	903					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATCTCGATGACTTTAAAGCTG	0.343000														65			12		0	0	1	0	0
ZMYND19	116225	broad.mit.edu	37	9	140481555	140481555	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140481555G>A	uc004cno.1	-	3	445	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	75						Golgi apparatus|plasma membrane	zinc ion binding	p.E74K(1)		endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CCCCGGTGCCGCTCCCTAGAA	0.617000														201			31		0	0	1	0	0
WWTR1	25937	broad.mit.edu	37	3	149374688	149374688	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:149374688C>T	uc003exf.3	-	1	746	c.406G>A	c.(406-408)Gcc>Acc	p.A136T	WWTR1_uc003exe.3_Missense_Mutation_p.A136T|WWTR1_uc021xfm.1_Missense_Mutation_p.A136T|WWTR1_uc003exh.3_Missense_Mutation_p.A136T|AK309441_uc010hvg.1_5'Flank|WWTR1-AS1_uc003exi.2_5'Flank	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	Homo sapiens WW domain containing transcription regulator 1 (WWTR1), transcript variant 1, mRNA.	136	WW.				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TGGCCAGTGGCCGTGAAGGTC	0.647000			T	CAMTA1	epitheliod hemangioendothelioma									86			11		0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407814	2407814	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2407814C>T	uc022brx.1	-	0	947	c.947G>A	c.(946-948)cGc>cAc	p.R316H	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.R316H|ZBED1_uc004cqg.2_Missense_Mutation_p.R316H|ZBED1_uc022brw.1_Missense_Mutation_p.R316H	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	316						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CACCAGTTTGCGGCAGCGCGA	0.622000														145			45		0	0	1	0	0
CRYGB	1419	broad.mit.edu	37	2	209010739	209010739	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209010739A>G	uc002vcp.4	-	2	43	c.10_splice	c.e2-1	p.I4_splice	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	4	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		GTAGAAGGTGATCTGAAAAAT	0.562000														144			48		0	0	1	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617062	111617062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111617062G>A	uc004bdi.3	-	0	1214	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	383						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	p.G383G(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GGATGGAACCGCCGGTCCACA	0.657000														198			25		0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38308422	38308422	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38308422C>A	uc003aui.3	+	2	535	c.260C>A	c.(259-261)tCc>tAc	p.S87Y		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	87	CH.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GACATGGTCTCCATGAGCGTC	0.592000														136			29		3.65163e-15	4.31534e-15	1	1	0
DENND3	22898	broad.mit.edu	37	8	142178477	142178477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142178477G>A	uc003yvy.3	+	12	2166	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	DENND3_uc010mep.3_Missense_Mutation_p.E591K|DENND3_uc003yvz.1_Missense_Mutation_p.E314K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	630										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGCCGCACGAGGCCTCGAA	0.612000														166			51		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598897	57598897	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598897C>A	uc002yak.3	+	3	684	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	139					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CGTCCACTCCCTGGGCGGGGG	0.592000														247			60		1.00798e-23	1.24953e-23	1	1	0
NUP50	10762	broad.mit.edu	37	22	45567527	45567527	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45567527C>A	uc003bfr.3	+	2	578	c.116C>A	c.(115-117)gCc>gAc	p.A39D	NUP50_uc003bfs.3_Missense_Mutation_p.A11D|NUP50_uc011aqn.2_5'UTR|NUP50_uc003bft.3_Missense_Mutation_p.A11D	NM_007172	NP_705931	Q9UKX7	NUP50_HUMAN	Homo sapiens nucleoporin 50kDa (NUP50), transcript variant 2, mRNA.	39					carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding	p.R38G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGAATAGAGCCATAAAGAAA	0.403000														98			17		7.07596e-05	7.35997e-05	1	1	0
HEATR1	55127	broad.mit.edu	37	1	236740213	236740213	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236740213A>G	uc001hyd.2	-	20	2944	c.2792T>C	c.(2791-2793)gTa>gCa	p.V931A	HEATR1_uc009xgh.2_Missense_Mutation_p.V174A	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	931					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTTCTTTTACGGGGCTTCC	0.373000														154			7		0	0	1	0	0
ZNF688	146542	broad.mit.edu	37	16	30581384	30581384	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30581384C>T	uc002dyt.2	-	2	1462	c.684G>A	c.(682-684)gcG>gcA	p.A228A	ZNF688_uc002dys.2_Silent_p.A214A|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						TCCACTGGTGCGCTTCCACTG	0.721000														61			19		0	0	1	0	0
ASB4	51666	broad.mit.edu	37	7	95157465	95157465	+	Silent	SNP	C	T	T	rs146416403	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95157465C>T	uc011kij.2	+	2	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	ASB4_uc003unx.3_Silent_p.A276A	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	276					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			AAGCTGGCGCCGAAGCCAATC	0.577000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		120			27		0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179069810	179069810	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179069810G>A	uc003fjt.3	+	1	326	c.319G>A	c.(319-321)Gca>Aca	p.A107T	MFN1_uc003fjs.3_Missense_Mutation_p.A79T|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	79					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity	p.G106G(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CATGAAGGTGGCATTTTTTGG	0.378000														192			29		0	0	1	0	0
CHRNA7	1139	broad.mit.edu	37	15	32460281	32460281	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:32460281G>A	uc021sic.1	+	9	1325	c.1218G>A	c.(1216-1218)ccG>ccA	p.P406P	DKFZp434L187_uc001zfv.1_Intron|CHRNA7_uc001zft.3_Silent_p.P377P|CHRNA7_uc010baf.3_Silent_p.P196P|CHRNA7_uc010bak.3_Silent_p.P292P	NM_001190455	NP_683709	P36544	ACHA7_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 7 (CHRNA7), transcript variant 2, mRNA.	377					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	TGGCGCCGCCGCCCGCCAGCA	0.706000														254			42		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58757770	58757770	+	Missense_Mutation	SNP	C	A	A	rs150558952	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58757770C>A	uc010euo.3	+	4	611	c.137C>A	c.(136-138)aCc>aAc	p.T46N	ZNF544_uc010eun.1_Non-coding_Transcript|ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.T46N|ZNF544_uc010yhy.2_Missense_Mutation_p.T46N|ZNF544_uc002qrt.4_5'UTR|ZNF544_uc002qru.4_5'UTR|ZNF544_uc002qrv.3_Non-coding_Transcript	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACACTGGAGACCTGGGAGCAT	0.552000														196			34		4.02929e-09	4.46121e-09	1	1	0
PLAA	9373	broad.mit.edu	37	9	26905793	26905793	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:26905793G>A	uc003zqd.3	-	13	2529	c.2104C>T	c.(2104-2106)Ctg>Ttg	p.L702L		NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	702	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AATGTAGCCAGAGCAATGTGA	0.418000														62			13		0	0	1	0	0
BCL2L13	23786	broad.mit.edu	37	22	18171769	18171769	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18171769T>G	uc002zmw.3	+	3	465	c.247T>G	c.(247-249)Ttt>Gtt	p.F83V	BCL2L13_uc002zmu.3_Missense_Mutation_p.F83V|BCL2L13_uc002zmx.3_Intron|BCL2L13_uc002zmy.3_Missense_Mutation_p.F83V|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_5'UTR|BCL2L13_uc002zmz.3_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	83					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		CAGCACAGGCTTTGACCGTCA	0.443000														140			39		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177355	7177355	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177355C>T	uc001qsj.3	+	14	2186	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	C1S_uc001qsk.3_Silent_p.S489S|C1S_uc001qsl.3_Silent_p.S489S|C1S_uc009zfr.3_Silent_p.S322S|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	489	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	ATGTTGGGTCCACCTCAGTGC	0.537000														50			7		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090559	238090559	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090559G>A	uc010pyc.2	+	11		c.2065G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		ATCCCTCTACGCCTCTGGGCG	0.587000														101			11		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563232	1563232	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1563232G>A	uc002fte.3	-	30	4963	c.4849C>T	c.(4849-4851)Cga>Tga	p.R1617*		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1617						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TATGACTTTCGGGGATGGATT	0.448000														95			22		0	0	1	0	0
ZNF790	388536	broad.mit.edu	37	19	37309616	37309616	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37309616T>A	uc021utk.1	-	4	2059	c.1630A>T	c.(1630-1632)Atc>Ttc	p.I544F	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Missense_Mutation_p.I544F|ZNF790_uc021utl.1_Missense_Mutation_p.I544F|ZNF790_uc021utm.1_Missense_Mutation_p.I544F	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I544M(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAACCCCAGATAAAAGATTTC	0.393000														141			38		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239040166	239040166	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239040166G>T	uc002vxq.4	+	8	2921	c.2811G>T	c.(2809-2811)acG>acT	p.T937T	ESPNL_uc010fyw.3_Silent_p.T633T	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	937										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTGGGATACGGAGCCTGGCC	0.726000														86			18		6.94344e-10	7.75807e-10	1	1	0
SEC16B	89866	broad.mit.edu	37	1	177913771	177913771	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177913771C>T	uc001glj.1	-	19	2675	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	SEC16B_uc001glk.1_Silent_p.E279E|SEC16B_uc009wwy.1_Silent_p.E157E|SEC16B_uc001glh.1_Silent_p.E261E|SEC16B_uc001gli.1_Silent_p.E602E|SEC16B_uc009wwz.1_Silent_p.E261E	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	602					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTGGATTGCCTCAGTTGTTG	0.473000														221			55		0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115301	57115301	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115301C>T	uc002lib.3	-	6	759	c.689G>A	c.(688-690)gGc>gAc	p.G230D	CCBE1_uc010dpq.3_Missense_Mutation_p.A6T|CCBE1_uc002lia.3_Missense_Mutation_p.G83D	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	230					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GATATACTTGCCCAGGTCAGC	0.577000														124			39		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7667264	7667264	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7667264C>T	uc002giu.1	+	17	3108	c.3094C>T	c.(3094-3096)Cag>Tag	p.Q1032*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1032	Stem (By similarity).				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)				CAATGAATGGCAGAACAAGTT	0.572000														138			30		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62285755	62285755	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62285755A>G	uc001ntl.3	-	4	16434	c.16134T>C	c.(16132-16134)ggT>ggC	p.G5378G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5378					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTGATGTCACCAGAGACAG	0.512000														170			35		0	0	1	0	0
NDUFA11	126328	broad.mit.edu	37	19	5896970	5896970	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5896970G>A	uc002mdp.2	-	1	441	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	FUT5_uc010duo.3_5'UTR|NDUFA11_uc002mdr.2_Non-coding_Transcript|NDUFA11_uc002mdq.2_Missense_Mutation_p.P46S	NM_001193375	NP_001180304	Q86Y39	NDUAB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa (NDUFA11), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	46					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I	protein transporter activity			central_nervous_system(1)|lung(1)	2					NADH(DB00157)	AAGGTGCCCGGAGGATTGAGT	0.627000														261			58		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7326106	7326106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7326106G>A	uc009xio.2	-	5	623	c.532C>T	c.(532-534)Cga>Tga	p.R178*	SFMBT2_uc001ijn.2_Nonsense_Mutation_p.R178*|SFMBT2_uc010qay.2_Nonsense_Mutation_p.R178*	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	178					regulation of transcription, DNA-dependent	nucleus		p.R178*(4)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCTTTCCCTCGCAGAGGCTGT	0.368000														140			19		0	0	1	0	0
GPN1	11321	broad.mit.edu	37	2	27858050	27858050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27858050C>T	uc010ymc.2	+	6	536	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZNF512_uc010yly.1_Non-coding_Transcript|GPN1_uc010ezf.3_Missense_Mutation_p.S146L|GPN1_uc010yma.2_Missense_Mutation_p.S79L|GPN1_uc010ymb.2_Missense_Mutation_p.S63L|GPN1_uc010ymd.2_Missense_Mutation_p.S53L|GPN1_uc010ezg.1_Missense_Mutation_p.S53L	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	158						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						ATGGACACATCGAGAAGTACC	0.448000														145			29		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38714900	38714900	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38714900G>A	uc001rln.4	+	2	1446	c.1307G>A	c.(1306-1308)aGa>aAa	p.R436K		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	436					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				CCCACATCCAGACTTGTTTGT	0.348000														151			31		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130501057	130501057	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130501057G>T	uc004bsc.3	-	11	2693	c.2551C>A	c.(2551-2553)Ctg>Atg	p.L851M	SH2D3C_uc010mxo.3_Missense_Mutation_p.L691M|SH2D3C_uc004bry.3_Missense_Mutation_p.L693M|SH2D3C_uc004brz.4_Missense_Mutation_p.L497M|SH2D3C_uc011mak.2_Missense_Mutation_p.L497M|SH2D3C_uc004bsb.3_Missense_Mutation_p.L783M|SH2D3C_uc004bsa.3_Missense_Mutation_p.L694M	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	851	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCAGGTTCCAGCTTGTGGGAC	0.637000														26			7		0.000274275	0.000282808	1	1	0
WDR55	54853	broad.mit.edu	37	5	140048517	140048517	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140048517G>A	uc003lgr.4	+	4	716	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	WDR55_uc011czl.1_Missense_Mutation_p.R40Q	NM_017706	NP_060176	Q9H6Y2	WDR55_HUMAN	Homo sapiens WD repeat domain 55 (WDR55), mRNA.	201					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGGCGTCGGTTTGAGCTG	0.527000														128			29		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168352003	168352003	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168352003C>A	uc021zik.1	+	28	4144	c.3825C>A	c.(3823-3825)acC>acA	p.T1275T	MLLT4_uc003qwb.1_Silent_p.T1300T|MLLT4_uc003qwc.2_Silent_p.T1316T|MLLT4_uc021zij.1_Silent_p.T1299T|MLLT4_uc021zim.1_Silent_p.T862T|MLLT4_uc003qwg.1_Silent_p.T625T	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1316					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACTCCAGTACCTCTAGCCAGG	0.512000			T	MLL	AL									196			47		2.215e-12	2.55483e-12	1	1	0
COPB2	9276	broad.mit.edu	37	3	139097937	139097937	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139097937G>A	uc003etf.4	-	3	437	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	COPB2_uc011bmv.2_Missense_Mutation_p.R74C|COPB2_uc010hui.3_Missense_Mutation_p.R74C|COPB2_uc011bmw.1_Missense_Mutation_p.R103C	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	103					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.R103C(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						GCAATACAGCGAATGTAGTCT	0.383000														62			16		0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489663	489663	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:489663C>T	uc001lpj.3	+	9	1221	c.1045C>T	c.(1045-1047)Ctg>Ttg	p.L349L		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	349						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CCTGGTCCTCCTGCGGCTCGT	0.597000														23			14		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950285	38950285	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950285G>A	uc003jlo.2	-	30	3687	c.3665C>T	c.(3664-3666)aCa>aTa	p.T1222I	RICTOR_uc003jlp.2_Missense_Mutation_p.T1222I|RICTOR_uc010ivf.2_Missense_Mutation_p.T937I	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1222					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TGTAGTGTCTGTATTGAAACT	0.418000														263			71		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31734467	31734467	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31734467A>C	uc011dog.2	-	13	2195	c.1957T>G	c.(1957-1959)Ttc>Gtc	p.F653V	VWA7_uc003nxd.2_Missense_Mutation_p.F328V	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	653						extracellular region											ACGTGGGAGAAATGCGGCTGA	0.642000														156			32		0	0	1	0	0
PRSS23	11098	broad.mit.edu	37	11	86518792	86518792	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:86518792G>A	uc021qok.1	+	0	107	c.107G>A	c.(106-108)cGc>cAc	p.R36H	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R36H|PRSS23_uc001pcb.3_Missense_Mutation_p.R36H	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	36					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CCTGCATACCGCCTCCCTGTC	0.542000														175			19		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42581869	42581869	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42581869G>A	uc003gwr.2	-	10	1193	c.961C>T	c.(961-963)Cga>Tga	p.R321*	ATP8A1_uc003gws.2_Nonsense_Mutation_p.R321*|ATP8A1_uc011byz.1_Nonsense_Mutation_p.R321*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	321					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R321Q(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATGCCTTCGATTCCAAATG	0.343000														37			15		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50475404	50475404	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50475404G>A	uc001rvv.3	+	11	1926	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	ASIC1_uc001rvw.3_Missense_Mutation_p.R520Q|ASIC1_uc009zln.3_Missense_Mutation_p.R311Q|ASIC1_uc009zlo.3_Missense_Mutation_p.R520Q|ASIC1_uc021qxr.1_Missense_Mutation_p.R554Q	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	520					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CATCCGGCCCGAGGCACGTTC	0.667000														70			20		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20068811	20068811	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20068811G>A	uc003wzp.3	+	5	801	c.587G>A	c.(586-588)gGg>gAg	p.G196E		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	196					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		TCTGCTGCTGGGCTACCACAC	0.448000														94			7		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47123649	47123649	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47123649G>A	uc002iom.3	+	13	1889	c.1555G>A	c.(1555-1557)Gct>Act	p.A519T	IGF2BP1_uc010dbj.3_Missense_Mutation_p.A380T	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	519	KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTGACGGCAGCTGAGGTGGT	0.547000														118			23		0	0	1	0	0
CPSF6	11052	broad.mit.edu	37	12	69653851	69653851	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69653851T>C	uc001sut.4	+	7	1453	c.1343T>C	c.(1342-1344)cTg>cCg	p.L448P	CPSF6_uc001suu.4_Missense_Mutation_p.L485P|CPSF6_uc010stk.2_Missense_Mutation_p.L79P	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	448					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATTGAGACACTGGTAACTGCA	0.363000														63			16		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65420511	65420511	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65420511T>C	uc011moz.2	+	11	2293	c.2156T>C	c.(2155-2157)gTg>gCg	p.V719A	HEPH_uc004dwn.3_Missense_Mutation_p.V668A|HEPH_uc004dwo.3_Missense_Mutation_p.V398A|HEPH_uc010nkr.3_Intron|HEPH_uc011mpa.2_Missense_Mutation_p.V668A|HEPH_uc010nks.3_5'Flank	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	665					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.P719T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCAACACTGTGCAGCTTCAG	0.567000														55			17		0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192830	152192830	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152192830G>A	uc001ezt.1	-	2	1351	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	425					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)			GCTGGCCGTGGCCTGGAGACT	0.617000														225			71		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52901874	52901874	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:52901874C>A	uc002lga.3	-	16	1757	c.1697G>T	c.(1696-1698)aGc>aTc	p.S566I	TCF4_uc021ukg.1_Missense_Mutation_p.S304I|TCF4_uc021ukh.1_Missense_Mutation_p.S304I|TCF4_uc002lfw.4_Missense_Mutation_p.S304I|TCF4_uc010xdu.1_Missense_Mutation_p.S334I|TCF4_uc010xdv.1_Missense_Mutation_p.S334I|TCF4_uc021uki.1_Missense_Mutation_p.S393I|TCF4_uc002lfx.2_Missense_Mutation_p.S393I|TCF4_uc010xdw.1_Missense_Mutation_p.S334I|TCF4_uc002lfy.2_Missense_Mutation_p.S422I|TCF4_uc010xdx.1_Missense_Mutation_p.S440I|TCF4_uc021ukj.1_Missense_Mutation_p.S404I|TCF4_uc021ukk.1_Missense_Mutation_p.S404I|TCF4_uc021ukl.1_Missense_Mutation_p.S461I|TCF4_uc002lfz.2_Missense_Mutation_p.S464I|TCF4_uc010dph.1_Missense_Mutation_p.S464I|TCF4_uc010dpi.3_Missense_Mutation_p.S470I|TCF4_uc010xdy.1_Missense_Mutation_p.S440I	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	464					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity	p.R566M(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AAGAGAATGGCTGCCTCTCAG	0.597000											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		177			32		1.06801e-11	1.22009e-11	1	1	0
CCNE1	898	broad.mit.edu	37	19	30313164	30313164	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30313164C>A	uc002nsn.3	+	9	1041	c.858C>A	c.(856-858)gtC>gtA	p.V286V	CCNE1_uc002nso.3_Silent_p.V271V	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	286					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ATCTCTGTGTCCTGGATGTTG	0.473000			A		serous ovarian									216			53		6.4308e-24	7.97596e-24	1	1	0
EPHX4	253152	broad.mit.edu	37	1	92518101	92518101	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92518101G>T	uc001don.2	+	5	847	c.743G>T	c.(742-744)gGc>gTc	p.G248V		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	248						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						CACAGCACTGGCATTGGAAGA	0.338000														32			4		0.00909568	0.00920877	1	1	0
VPS37B	79720	broad.mit.edu	37	12	123352062	123352062	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123352062C>T	uc001udl.3	-	3	562	c.459G>A	c.(457-459)cgG>cgA	p.R153R		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	153	Interaction with IST1.|VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		CGATTTTCACCCGTCGCATGT	0.562000														358			64		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805276	39805276	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805276G>A	uc002okw.2	-	0	701	c.701C>T	c.(700-702)tCg>tTg	p.S234L		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	234						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGTGCCCTGCGACCTCAGGAA	0.682000														47			10		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132982776	132982776	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132982776G>A	uc003yte.3	+	9	1249	c.1045G>A	c.(1045-1047)Gtt>Att	p.V349I		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	349						plasma membrane	binding	p.S348fs*15(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCGTCTCAGCGTTGAATTCGA	0.398000														65			15		0	0	1	0	0
TARS	6897	broad.mit.edu	37	5	33461024	33461024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33461024G>A	uc003jhy.3	+	11	1563	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q	TARS_uc010iup.1_Missense_Mutation_p.R364Q|TARS_uc011coc.2_Missense_Mutation_p.R444Q|TARS_uc003jhz.3_Missense_Mutation_p.R319Q|TARS_uc011cod.2_Missense_Mutation_p.R302Q	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	423					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTTGATCATCGGCCAAGGTCC	0.463000														102			21		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290757	184290757	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184290757G>A	uc003foz.3	+	2	1086	c.649G>A	c.(649-651)Gca>Aca	p.A217T		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	217	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A217T(2)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATCCACCACCGCAGGCTTCGC	0.632000														176			35		0	0	1	0	0
NHLRC2	374354	broad.mit.edu	37	10	115636517	115636517	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115636517A>G	uc001lax.2	+	2	810	c.569A>G	c.(568-570)tAt>tGt	p.Y190C		NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	190	Thioredoxin.				cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTATTTTTATATACTTCAATT	0.353000														87			25		0	0	1	0	0
CD7	924	broad.mit.edu	37	17	80274664	80274664	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80274664C>A	uc002kel.1	-	1	385	c.276G>T	c.(274-276)ggG>ggT	p.G92G	CD7_uc010din.3_Silent_p.G92G|CD7_uc010wvk.1_Silent_p.G92G	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	92	Ig-like.				T cell activation|immune response|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			TGTCCTGGGACCCTGAGAAGT	0.622000														302			68		3.30712e-30	4.16372e-30	1	1	0
GCC1	79571	broad.mit.edu	37	7	127224652	127224652	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224652C>T	uc003vma.3	-	0	1003	c.585G>A	c.(583-585)caG>caA	p.Q195Q		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	195						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTCTAAGTCCTGTTTCATCT	0.527000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		207			42		0	0	1	0	0
FAM158A	51016	broad.mit.edu	37	14	24608299	24608299	+	Missense_Mutation	SNP	G	A	A	rs140552029	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24608299G>A	uc001wmi.3	-	5	710	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W		NM_016049	NP_057133	Q9Y3B6	F158A_HUMAN	Homo sapiens family with sequence similarity 158, member A (FAM158A), mRNA.	183										kidney(1)|lung(3)	4						CAGTCCTGCCGGATGTCATCA	0.597000														154			27		0	0	1	0	0
GNB1	2782	broad.mit.edu	37	1	1718817	1718817	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1718817C>T	uc001aif.3	-	10	1339	c.976G>A	c.(976-978)Gct>Act	p.A326T	GNB1_uc009vky.3_Missense_Mutation_p.A226T	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	326					Ras protein signal transduction|cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GTCGCCACAGCCATGCCATCG	0.572000														191			18		0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18143582	18143582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18143582G>A	uc021wbb.1	+	5	2101	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CSRP2BP_uc002wqk.3_Missense_Mutation_p.R427Q|CSRP2BP_uc010zru.2_Missense_Mutation_p.R426Q	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	555					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						ATCCTTGACCGATACCAGGTG	0.527000														62			9		0	0	1	0	0
AGAP8	728404	broad.mit.edu	37	10	51225014	51225014	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51225014G>A	uc001jij.3	-	6	2094	c.1968C>T	c.(1966-1968)taC>taT	p.Y656Y	PARG_uc001jih.3_Intron|PARG_uc009xoj.3_Intron|PARG_uc001jif.3_Intron|PARG_uc001jig.3_Intron|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Intron|PARG_uc010qgx.2_Intron|AGAP8_uc009xom.3_Silent_p.Y571Y|AGAP8_uc001jik.3_Silent_p.Y640Y|AGAP8_uc010qgy.2_Silent_p.Y679Y|AGAP8_uc021pqg.1_Silent_p.Y656Y|DQ588224_uc001jil.1_5'Flank	NM_001077686	NP_001071154	Q5SRD3	AGAP8_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 8 (AGAP8), mRNA.	656					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|ovary(2)	6						CGGGGCAGCCGTACTGCAGAA	0.522000														102			86		0	0	1	0	0
TRIM35	23087	broad.mit.edu	37	8	27145212	27145212	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27145212C>T	uc003xfl.1	-	5	1419	c.1337G>A	c.(1336-1338)cGc>cAc	p.R446H	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	446	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GTGGCAGTGGCGCTCCGCGTC	0.687000														32			4		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54734985	54734985	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54734985A>C	uc003pck.3	+	2	57	c.-59_splice	c.e2-1			NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.											autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAATACCAGATACTTCTCAC	0.338000														61			12		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44274124	44274124	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44274124G>T	uc010jza.1	-	8	1196	c.1193C>A	c.(1192-1194)gCc>gAc	p.A398D	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	398					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CACCAGGTTGGCGATCTGAAC	0.587000														300			60		1.14385e-22	1.41145e-22	1	1	0
CCDC65	85478	broad.mit.edu	37	12	49312057	49312057	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312057G>T	uc001rso.3	+	5	837	c.610_splice	c.e5-1	p.N204_splice		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	204										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						TCACTTGCTAGAATTTAGAAG	0.413000														106			22		2.70639e-06	2.8733e-06	1	1	0
USP32	84669	broad.mit.edu	37	17	58286188	58286188	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286188G>A	uc002iyo.1	-	23	2885	c.2599_splice	c.e23-1	p.A867_splice	USP32_uc002iyn.1_Splice_Site_p.A537_splice	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	867					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			GTTGTCCCAGGCCTAGCAATA	0.323000														60			6		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197183767	197183767	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197183767G>T	uc002utm.1	-	8	2030	c.1847C>A	c.(1846-1848)cCc>cAc	p.P616H	HECW2_uc002utl.1_Missense_Mutation_p.P260H	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	616					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGGATCACTGGGTTCTGTTTC	0.587000														67			34		8.16721e-17	9.7615e-17	1	1	0
ZC3H18	124245	broad.mit.edu	37	16	88688650	88688650	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88688650G>A	uc010voz.2	+	9	1793	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	ZC3H18_uc002fky.3_Silent_p.P507P|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	507						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCACGGGGCCGCAGGTGAAGA	0.602000														77			29		0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36050193G>A	uc001uvc.3	-	1	665	c.83C>T	c.(82-84)gCc>gTc	p.A28V	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	28					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507000														220			55		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790553	133790553	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133790553T>G	uc001qgx.4	-	17	3298	c.3067A>C	c.(3067-3069)Agc>Cgc	p.S1023R		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	1023	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCAGCGTGCTGTTGGATGCA	0.672000														183			43		0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178360778	178360778	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178360778G>A	uc003iuu.2	-	2	474	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	AGA_uc003iuw.3_Missense_Mutation_p.R116W|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	116					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		AGTACTTTCCGTGCCACACCA	0.363000														257			43		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420293	105420293	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105420293C>A	uc010axc.1	-	6	1615	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.E399*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	499						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCTCTTTTTCTGTGGAAAAT	0.507000														151			33		5.60225e-13	6.5042e-13	1	1	0
ADAMTS6	11174	broad.mit.edu	37	5	64766794	64766794	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:64766794G>T	uc003jtp.3	-	2	1087	c.273C>A	c.(271-273)gcC>gcA	p.A91A	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	91					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GCTTGCCATAGGCTGAAAGTT	0.393000														80			13		4.3838e-07	4.70703e-07	1	1	0
LAMC2	3918	broad.mit.edu	37	1	183200178	183200178	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183200178C>T	uc001gqa.2	+	11	2111	c.1797C>T	c.(1795-1797)ggC>ggT	p.G599G	LAMC2_uc001gpz.4_Silent_p.G599G|LAMC2_uc010poa.2_Silent_p.G299G	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	599	Laminin EGF-like 8; truncated.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GATTTGGTGGCCCCAACTGTG	0.498000														121			23		0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4919450	4919450	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4919450G>T	uc001qng.3	+	0	1109	c.243G>T	c.(241-243)agG>agT	p.R81S	KCNA6_uc021qtr.1_Missense_Mutation_p.R81S	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	81						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						ACCCCCTGAGGAACGAGTACT	0.657000										HNSCC(72;0.22)				194			50		3.4597e-24	4.29637e-24	1	1	0
ZNF775	285971	broad.mit.edu	37	7	150094568	150094568	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094568C>T	uc003whf.1	+	2	1124	c.999C>T	c.(997-999)ggC>ggT	p.G333G		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	333					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCACACAGGCGAGCGCCCGC	0.726000														52			8		0	0	1	0	0
ANGEL2	90806	broad.mit.edu	37	1	213186643	213186643	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213186643T>C	uc001hjz.3	-	1	332	c.177A>G	c.(175-177)ggA>ggG	p.G59G	ANGEL2_uc010pto.2_Intron|ANGEL2_uc010ptp.2_Intron|ANGEL2_uc001hka.3_Intron|ANGEL2_uc010ptq.2_Intron|ANGEL2_uc001hkb.3_Silent_p.G37G	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	59										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GAGAGTAATGTCCAGGCCACC	0.463000														240			21		0	0	1	0	0
ADPGK	83440	broad.mit.edu	37	15	73045191	73045191	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73045191G>A	uc002avg.4	-	6	1079	c.985C>T	c.(985-987)Ctg>Ttg	p.L329L	ADPGK_uc002ave.4_Silent_p.L54L|ADPGK_uc010ukw.2_Silent_p.L271L|ADPGK_uc002avf.4_Silent_p.L328L|ADPGK_uc002avi.4_Silent_p.L206L|ADPGK_uc002avh.4_Silent_p.L90L	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	329	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						AGAAATAACAGCTCCTGTTCA	0.493000														80			34		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149499027	149499027	+	Silent	SNP	G	A	A	rs147684856	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149499027G>A	uc010lpk.3	+	49	7470	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2493	LDL-receptor class A 10.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGACGAGGATG	0.697000														80			11		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28602336	28602336	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28602336G>T	uc001urw.3	-	15	2114	c.2032C>A	c.(2032-2034)Ctg>Atg	p.L678M	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.L678M	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	678	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.L677L(1)|p.L678_G679insIVKLL(1)|p.L678_G679insIVNLL(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CACGCCCCCAGCAGGTTCACA	0.473000			"""Mis, O"""		"""AML, ALL"""									52			14		1.52009e-12	1.75732e-12	1	1	0
TSC22D3	1831	broad.mit.edu	37	X	106957916	106957916	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106957916T>G	uc004enh.3	-	2	804	c.436A>C	c.(436-438)Atc>Ctc	p.I146L	TSC22D3_uc004enf.3_Missense_Mutation_p.I23L|TSC22D3_uc004eng.3_Missense_Mutation_p.I80L|TSC22D3_uc004eni.3_Missense_Mutation_p.I146L|TSC22D3_uc004enj.3_Missense_Mutation_p.I146L	NM_198057	NP_932174	Q99576	T22D3_HUMAN	Homo sapiens TSC22 domain family, member 3 (TSC22D3), transcript variant 1, mRNA.	80							sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGCTCTCGGATCTGCTCCTTC	0.517000														214			47		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56230077	56230077	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56230077C>T	uc010rjj.2	-	0	801	c.801G>A	c.(799-801)gaG>gaA	p.E267E	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTTTGCCCTGCTCTACGGATT	0.463000														86			18		0	0	1	0	0
C5orf38	153571	broad.mit.edu	37	5	2752520	2752520	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2752520G>A	uc003jdc.3	+	0	259	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	C5orf38_uc011cmg.2_Missense_Mutation_p.A48T|C5orf38_uc011cmh.2_Non-coding_Transcript|C5orf38_uc011cmi.2_Non-coding_Transcript|C5orf38_uc011cmj.2_Non-coding_Transcript	NM_178569	NP_848664	Q86SI9	CEI_HUMAN	Homo sapiens chromosome 5 open reading frame 38 (C5orf38), mRNA.	48						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GGTCCACTCCGCCCAGCATGG	0.711000														33			14		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103197551	103197551	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103197551G>A	uc022ajr.1	-	37	5830	c.5670C>T	c.(5668-5670)atC>atT	p.I1890I	RELN_uc022ajq.1_Silent_p.I1890I|RELN_uc010liz.3_Silent_p.I1890I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1890					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTGCCAAGTGATTCCTCCAC	0.383000														84			24		0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786879	121786879	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786879G>T	uc003ksw.1	+	9	2543	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	SNCAIP_uc011cwl.1_Missense_Mutation_p.Q337H|SNCAIP_uc003ksy.1_Missense_Mutation_p.Q413H|SNCAIP_uc003ksx.1_Missense_Mutation_p.Q826H|SNCAIP_uc003ksz.1_Missense_Mutation_p.Q413H|SNCAIP_uc010jcu.2_Missense_Mutation_p.Q375H|SNCAIP_uc011cwm.1_Missense_Mutation_p.Q413H|SNCAIP_uc003kta.1_Missense_Mutation_p.Q411H|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.Q473H|SNCAIP_uc010jcx.1_Missense_Mutation_p.Q719H|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.Q295H	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	779					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GTGACCCTCAGCAGCCCAGCC	0.547000														80			19		2.94398e-08	3.21697e-08	1	1	0
GLTSCR2	29997	broad.mit.edu	37	19	48255822	48255822	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255822G>A	uc002phm.2	+	5	747	c.723G>A	c.(721-723)gcG>gcA	p.A241A	GLTSCR2_uc010elk.1_Non-coding_Transcript	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	241						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		TGGAGGTGGCGCCTGCCGGAG	0.662000														135			24		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42695010	42695010	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42695010C>T	uc001zpn.1	+	12	1861	c.1555C>T	c.(1555-1557)Cac>Tac	p.H519Y	CAPN3_uc001zpk.1_Missense_Mutation_p.H292Y|CAPN3_uc001zpl.1_Missense_Mutation_p.H432Y|CAPN3_uc010udf.1_Missense_Mutation_p.H432Y|CAPN3_uc010udg.1_Missense_Mutation_p.H384Y|CAPN3_uc001zpo.1_Missense_Mutation_p.H519Y|CAPN3_uc001zpp.1_Missense_Mutation_p.H471Y|CAPN3_uc001zpq.1_Missense_Mutation_p.H7Y|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	519	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		GAACAAGCAGCACCTGCAGAA	0.612000														130			18		0	0	1	0	0
TNFRSF13B	23495	broad.mit.edu	37	17	16843683	16843683	+	Missense_Mutation	SNP	C	A	A	rs56248318		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16843683C>A	uc002gqs.1	-	3	601	c.588G>T	c.(586-588)caG>caT	p.Q196H	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.Q150H	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	196					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.Q196*(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						TTGAGCGGGGCTGGCAGGAGC	0.647000									IgA Deficiency, Selective					211			50		2.29192e-23	2.83726e-23	1	1	0
PMS2CL	441194	broad.mit.edu	37	7	6786764	6786764	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6786764C>T	uc003squ.3	+	11		c.2063C>T			PMS2CL_uc003sqv.1_Non-coding_Transcript					Homo sapiens PMS2 C-terminal like pseudogene (PMS2CL), non-coding RNA.																		TCATGCTGAGCGACAGCCCTG	0.542000														34			17		0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118434865	118434865	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118434865G>A	uc001lct.3	-	11	1560	c.1455C>T	c.(1453-1455)gcC>gcT	p.A485A	HSPA12A_uc001lcu.3_Silent_p.A402A	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	485							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GGGGCGCCTCGGCAAAGCCGC	0.637000														50			13		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44143920	44143920	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44143920C>T	uc002ikc.3	-	5	2302	c.1831G>A	c.(1831-1833)Gtt>Att	p.V611I	KANSL1_uc002ikd.3_Missense_Mutation_p.V611I|KANSL1_uc010dav.3_Missense_Mutation_p.V611I	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	611						MLL1 complex	protein binding										GAAAGAGGAACGATGCTGTTG	0.502000														65			9		0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100491402	100491402	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100491402C>A	uc003uxd.3	-	0	608	c.452G>T	c.(451-453)gGg>gTg	p.G151V	ACHE_uc003uxe.3_Missense_Mutation_p.G151V|ACHE_uc003uxf.3_Missense_Mutation_p.G151V|ACHE_uc003uxg.3_Missense_Mutation_p.G151V|ACHE_uc003uxh.3_Missense_Mutation_p.G151V|ACHE_uc003uxi.3_Missense_Mutation_p.G151V|ACHE_uc003uxj.1_Missense_Mutation_p.G270V	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	151					DNA replication|acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	Golgi apparatus|anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GAAGCCACCCCCATAGATCCA	0.612000														219			51		1.86633e-21	2.29124e-21	1	1	0
KIAA0182	23199	broad.mit.edu	37	16	85690962	85690962	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85690962G>A	uc002fix.3	+	7	1466	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	KIAA0182_uc002fiw.3_Silent_p.T360T|KIAA0182_uc002fiy.3_Silent_p.T391T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	464							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CACACCACACGGTGCCCAGCC	0.632000														180			36		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32165082	32165082	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32165082G>T	uc003obb.3	-	26	5185	c.5046C>A	c.(5044-5046)gtC>gtA	p.V1682V	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Silent_p.V91V|NOTCH4_uc003oba.3_Silent_p.V342V|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Silent_p.V91V	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1682					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAACCTGGCAGACCTCCCGAG	0.602000														141			38		1.67305e-13	1.95074e-13	1	1	0
PLK1S1	55857	broad.mit.edu	37	20	21142762	21142762	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142762A>C	uc002wsb.3	+	4	789	c.656A>C	c.(655-657)aAt>aCt	p.N219T	PLK1S1_uc010zsh.2_Missense_Mutation_p.N116T|PLK1S1_uc010zsi.2_Missense_Mutation_p.N86T|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	219					spindle organization	centrosome	protein kinase binding										CAGTGCTTAAATAAGTCTGAC	0.433000														79			16		0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15827333	15827333	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15827333G>A	uc004cxg.4	+	6	494	c.449G>A	c.(448-450)gGt>gAt	p.G150D		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	150					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TTGGAAAATGGTACCACATGG	0.378000			"""F, S, Mis"""		"""MDS, CLL"""									136			43		0	0	1	0	0
LOC389033	389033	broad.mit.edu	37	2	130681192	130681192	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130681192C>A	uc010yzp.1	-	1		c.202G>T								Homo sapiens placenta-specific 9 pseudogene (LOC389033), non-coding RNA.																		AGGCCAGGTCCTCTAGCAGGC	0.632000														28			3		0.004672	0.00474578	1	1	0
SOLH	6650	broad.mit.edu	37	16	601376	601376	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:601376G>A	uc002chi.3	+	7	2504	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	714	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CTGGGCCTGCGCCCCCGGCAT	0.682000														198			45		0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56356920	56356920	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56356920T>C	uc002ivu.1	-	3	689	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	171					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCGGTATTTGTCCTGCTCCGG	0.652000														88			18		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114499317	114499317	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114499317C>A	uc003kqs.3	-	1	705	c.196G>T	c.(196-198)Gat>Tat	p.D66Y	TRIM36_uc011cwc.2_Missense_Mutation_p.D54Y|TRIM36_uc003kqt.3_Intron	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	66						acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		TTGAATGAATCATCGAGAGTC	0.458000														128			26		6.32553e-13	7.33687e-13	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193105	132193105	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193105C>A	uc003vra.4	-	1	577	c.348G>T	c.(346-348)aaG>aaT	p.K116N	PLXNA4_uc003vrc.2_Missense_Mutation_p.K116N|PLXNA4_uc003vrb.3_Missense_Mutation_p.K116N	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	116	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAGGAGCATCTTGTTGACAT	0.572000														105			30		1.50538e-07	1.62722e-07	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134073339	134073339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073339G>A	uc003iha.3	+	0	2870	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDH10_uc003igz.3_Missense_Mutation_p.A682T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGATGGCGCCGTGGAGCC	0.716000														129			36		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116720703	116720703	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116720703G>A	uc011ebg.2	+	1	446	c.347G>A	c.(346-348)cGc>cAc	p.R116H	DSE_uc011ebf.1_Missense_Mutation_p.R97H|DSE_uc003pwq.1_Missense_Mutation_p.R97H|DSE_uc003pws.3_Missense_Mutation_p.R97H|DSE_uc003pwt.3_Missense_Mutation_p.R97H	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	97					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TACAGTGCCCGCTGGAATGAA	0.542000														111			15		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141253268	141253268	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141253268A>C	uc002tvj.1	-	55	9872	c.8900T>G	c.(8899-8901)gTa>gGa	p.V2967G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2967	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		ATCAATGTCTACACATGTTTT	0.413000										TSP Lung(27;0.18)				43			22		0	0	1	0	0
FBXW2	26190	broad.mit.edu	37	9	123538497	123538497	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123538497G>A	uc004bkn.2	-	4	1116	c.789C>T	c.(787-789)agC>agT	p.S263S	FBXW2_uc011lyc.1_Silent_p.S102S|FBXW2_uc004bkl.1_Silent_p.S231S|FBXW2_uc004bkm.1_Silent_p.S231S|FBXW2_uc010mvj.1_Silent_p.S166S	NM_012164	NP_036296	Q9UKT8	FBXW2_HUMAN	Homo sapiens F-box and WD repeat domain containing 2 (FBXW2), mRNA.	231					proteolysis		protein binding|ubiquitin-protein ligase activity			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGTAGTCCACGCTAAATACTA	0.378000														133			12		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175636706	175636706	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175636706A>C	uc003ity.1	-	4	1010	c.507T>G	c.(505-507)ctT>ctG	p.L169L	GLRA3_uc003itz.1_Silent_p.L169L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	169					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	TTGGACAGGAAAGTGTTAATG	0.289000														54			23		0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156381524	156381524	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156381524T>G	uc003lwh.2	-	1	359	c.302A>C	c.(301-303)aAc>aCc	p.N101T	TIMD4_uc010jii.2_Missense_Mutation_p.N101T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	101	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCACTGGGGTTTAAGATGGT	0.493000														105			28		0	0	1	0	0
EXTL1	2134	broad.mit.edu	37	1	26349754	26349754	+	Missense_Mutation	SNP	C	T	T	rs150568245	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26349754C>T	uc001blf.3	+	0	1484	c.617C>T	c.(616-618)cCg>cTg	p.P206L		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	206					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCCCACCCGTTGCGAGGT	0.682000														66			6		0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74234928	74234928	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234928C>A	uc003xzi.3	+	4	1473	c.785C>A	c.(784-786)cCt>cAt	p.P262H	RDH10_uc003xzj.3_Missense_Mutation_p.P97H|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	262					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			GAAATTGAGCCTTTTCTGCCA	0.398000														98			22		1.28384e-07	1.38782e-07	1	1	0
ATP12A	479	broad.mit.edu	37	13	25281487	25281487	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25281487C>T	uc010aaa.3	+	16	2760	c.2427C>T	c.(2425-2427)tgC>tgT	p.C809C	ATP12A_uc001upp.3_Silent_p.C803C	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	803					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CCGAGCTGTGCCCCTTTCTGA	0.488000														243			41		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332299	100332299	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100332299G>T	uc021sxl.1	-	1		c.854C>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		GGGCCATGCAGGAGGTCATGG	0.637000														155			41		5.20837e-25	6.48422e-25	1	1	0
CLK2	1196	broad.mit.edu	37	1	155234050	155234050	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155234050G>A	uc001fjy.3	-	10	1478	c.1188C>T	c.(1186-1188)atC>atT	p.I396I	SCAMP3_uc001fjs.3_5'Flank|SCAMP3_uc001fjt.3_5'Flank|CLK2_uc001fjw.3_Silent_p.I395I|CLK2_uc001fjx.3_Silent_p.I168I|CLK2_uc009wqm.3_Silent_p.I396I	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	396	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGACCCAAGATCCTTTCCA	0.468000								Other conserved DNA damage response genes						110			21		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12962091	12962091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12962091C>T	uc003bxt.2	-	5	1910	c.1901G>A	c.(1900-1902)cGc>cAc	p.R634H	IQSEC1_uc003bxu.3_Missense_Mutation_p.R512H|IQSEC1_uc011auw.1_Missense_Mutation_p.R620H	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	634	SEC7.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GATGCAGTAGCGCTGGCTGCG	0.632000														151			32		0	0	1	0	0
TMEM111	55831	broad.mit.edu	37	3	10011449	10011449	+	Missense_Mutation	SNP	G	A	A	rs144158403		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10011449G>A	uc003buo.3	-	6	788	c.611C>T	c.(610-612)aCg>aTg	p.T204M	CIDEC_uc003bto.3_Intron|TMEM111_uc003bun.3_Missense_Mutation_p.T204M	NM_018447	NP_060917	Q9P0I2	TM111_HUMAN	Homo sapiens transmembrane protein 111 (TMEM111), mRNA.	204						integral to membrane				kidney(4)|large_intestine(3)|lung(3)|stomach(1)|urinary_tract(1)	12						GGCTGCTCCCGTCATCTGCTC	0.522000														110			31		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196509633	196509633	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196509633C>A	uc003fwy.4	+	1	438	c.116C>A	c.(115-117)cCt>cAt	p.P39H		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	39					T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGTTTGAAACCTTTGCCCTCT	0.473000														343			23		9.04412e-07	9.6547e-07	1	1	0
CERCAM	51148	broad.mit.edu	37	9	131198036	131198036	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131198036G>A	uc004buz.4	+	11	2038	c.1640G>A	c.(1639-1641)aGt>aAt	p.S547N	CERCAM_uc004buy.1_Missense_Mutation_p.S469N|CERCAM_uc010mxz.3_Missense_Mutation_p.S469N	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	547					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GAGTGGCTCAGTGACACGGAG	0.662000														64			15		0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41482929	41482929	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41482929C>T	uc009vwg.1	-	4	1462	c.1078G>A	c.(1078-1080)Gcc>Acc	p.A360T	LOC100507178_uc021omd.1_Non-coding_Transcript|SLFNL1_uc009vwf.1_Intron|SLFNL1_uc001cgn.2_Missense_Mutation_p.A301T|SLFNL1_uc001cgm.2_Missense_Mutation_p.A360T	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	360							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				TCCTGGATGGCGCTGGCAGAC	0.682000														33			6		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601946	13601946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601946G>A	uc003gmz.1	-	9	6695	c.6578C>T	c.(6577-6579)cCt>cTt	p.P2193L	BOD1L1_uc010idr.1_Missense_Mutation_p.P1530L	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2193							DNA binding										ACTGGGCATAGGCCCCTCAAA	0.527000														102			22		0	0	1	0	0
ZMAT3	64393	broad.mit.edu	37	3	178748762	178748762	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:178748762C>T	uc003fjg.3	-	2	627	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	ZMAT3_uc003fji.3_Missense_Mutation_p.R99Q	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	99					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATAGTAATTTCGGAGTTTCTT	0.438000														118			17		0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203192354	203192354	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192354T>G	uc001gzn.2	-	5	610	c.514A>C	c.(514-516)Acc>Ccc	p.T172P	CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_5'UTR|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.T163P	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	172					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	p.T172T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTCCCTGAGGTCTGGGCTTCC	0.612000														228			71		0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075767	56075767	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56075767C>A	uc010spr.2	+	0	438	c.229C>A	c.(229-231)Ctg>Atg	p.L77M		NM_152637	NP_689850	Q6UX53	MET7B_HUMAN	Homo sapiens methyltransferase like 7B (METTL7B), mRNA.	77							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						CCTACTGGAGCTGGGCTGCGG	0.572000														57			15		1.3612e-06	1.45125e-06	1	1	0
SLC5A10	125206	broad.mit.edu	37	17	18918395	18918395	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18918395C>T	uc002gut.1	+	10	1213	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	SLC5A10_uc002gur.1_Missense_Mutation_p.A308V|SLC5A10_uc002guu.1_Missense_Mutation_p.A375V|SLC5A10_uc002guv.1_Missense_Mutation_p.A348V|SLC5A10_uc010vyl.1_Missense_Mutation_p.A339V|SLC5A10_uc002gux.1_5'Flank	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	375					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GTGATGCTGGCGGCGCTCATG	0.672000														124			28		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38855715	38855715	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38855715C>T	uc002oih.4	+	21	2658	c.2571C>T	c.(2569-2571)tcC>tcT	p.S857S	CATSPERG_uc002oig.4_Silent_p.S817S|CATSPERG_uc002oif.4_Silent_p.S497S|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	857					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGGGTTCATCCGGGCTCTGCT	0.622000														174			27		0	0	1	0	0
ZNF608	57507	broad.mit.edu	37	5	123984658	123984658	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:123984658G>T	uc003ktq.1	-	3	1602	c.1419C>A	c.(1417-1419)agC>agA	p.S473R	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.S473R|ZNF608_uc003ktt.1_Missense_Mutation_p.S473R	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	473						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TGGCATTGAGGCTGCCCCGCC	0.592000														208			48		9.82405e-12	1.12389e-11	1	1	0
BPTF	2186	broad.mit.edu	37	17	65862587	65862587	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65862587G>T	uc002jgf.3	+	2	1505	c.1444G>T	c.(1444-1446)Gat>Tat	p.D482Y	BPTF_uc002jge.3_Missense_Mutation_p.D482Y|BPTF_uc010wqm.1_Missense_Mutation_p.D482Y	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	482					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAGAAGAAGATACAGAAAA	0.328000														111			29		2.2171e-23	2.74512e-23	1	1	0
CPZ	8532	broad.mit.edu	37	4	8616132	8616132	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8616132G>A	uc003glm.3	+	8	1584	c.1410G>A	c.(1408-1410)acG>acA	p.T470T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T459T|CPZ_uc003gln.3_Silent_p.T333T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	470					Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTGAGATCACGGTAGAGCTGG	0.572000														139			35		0	0	1	0	0
SEPT2	4735	broad.mit.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242282453C>A	uc002wbh.3	+	11	1133	c.671C>A	c.(670-672)cCt>cAt	p.P224H	SEPT2_uc002wbc.3_Missense_Mutation_p.P214H|SEPT2_uc002wbd.3_Missense_Mutation_p.P214H|SEPT2_uc002wbf.3_Missense_Mutation_p.P214H|SEPT2_uc002wbg.3_Missense_Mutation_p.P214H|SEPT2_uc010zop.2_Missense_Mutation_p.P249H	NM_006155	NP_006146	Q15019	SEPT2_HUMAN	Homo sapiens septin 2 (SEPT2), transcript variant 2, mRNA.	214					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|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;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348000														153			30		8.4185e-14	9.84907e-14	1	1	0
HIPK2	28996	broad.mit.edu	37	7	139285255	139285255	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139285255C>A	uc003vvf.4	-	10	2614	c.2343G>T	c.(2341-2343)caG>caT	p.Q781H	HIPK2_uc003vvd.4_Missense_Mutation_p.Q754H	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	781	Interaction with CTBP1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CATTTAAGGGCTGTGCTGCTG	0.557000														111			25		5.35356e-11	6.06456e-11	1	1	0
MYH11	4629	broad.mit.edu	37	16	15829434	15829434	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15829434G>T	uc002ddx.3	-	27	3422	c.3315_splice	c.e27-1	p.R1105_splice	MYH11_uc002ddv.3_Splice_Site_p.R1105_splice|MYH11_uc002ddw.3_Splice_Site_p.R1098_splice|MYH11_uc002ddy.3_Splice_Site_p.R1098_splice|MYH11_uc010bvg.3_Splice_Site_p.R930_splice	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1098					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCATCGTCAAGCCTTCCAGGG	0.542000			T	CBFB	AML									142			30		3.65163e-15	4.31534e-15	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18687510	18687510	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18687510A>G	uc003sui.3	+	8	1179	c.1138A>G	c.(1138-1140)Agc>Ggc	p.S380G	HDAC9_uc003sue.3_Missense_Mutation_p.S377G|HDAC9_uc011jyd.2_Missense_Mutation_p.S377G|HDAC9_uc003suh.3_Missense_Mutation_p.S377G|HDAC9_uc003suj.3_Missense_Mutation_p.S336G|HDAC9_uc011jya.2_Missense_Mutation_p.S375G|HDAC9_uc003sua.1_Missense_Mutation_p.S355G|HDAC9_uc003sud.2_Missense_Mutation_p.S377G|HDAC9_uc011jyc.2_Missense_Mutation_p.S336G|HDAC9_uc011jyb.2_Missense_Mutation_p.S333G|HDAC9_uc003suf.2_Missense_Mutation_p.S408G|HDAC9_uc010kud.2_Missense_Mutation_p.S380G|HDAC9_uc011jye.2_Missense_Mutation_p.S349G|HDAC9_uc011jyf.2_Missense_Mutation_p.S300G|HDAC9_uc010kue.1_Missense_Mutation_p.S120G	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	377					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCATCTTCCAGCCACCCTCA	0.502000														35			4		0	0	1	0	0
RBBP9	10741	broad.mit.edu	37	20	18471048	18471048	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18471048G>A	uc002wqy.3	-	3	401	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C		NM_006606	NP_006597	O75884	RBBP9_HUMAN	Homo sapiens retinoblastoma binding protein 9 (RBBP9), mRNA.	109						cytoplasm|nucleus	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|prostate(1)	9						CCACTTGCACGCTCATTTTCA	0.423000														72			16		0	0	1	0	0
RABEPK	10244	broad.mit.edu	37	9	127990330	127990330	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127990330T>C	uc004bpi.3	+	6	837	c.668T>C	c.(667-669)aTt>aCt	p.I223T	RABEPK_uc004bpj.3_Missense_Mutation_p.I172T|RABEPK_uc004bpk.3_Missense_Mutation_p.I223T	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	223					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						CTCCACTGCATTGATATAAGT	0.458000														55			7		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2774091	2774091	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2774091A>C	uc009zdu.1	+	36	4790	c.4477A>C	c.(4477-4479)Aca>Cca	p.T1493P	CACNA1C_uc001qkc.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qke.2_Missense_Mutation_p.T1434P|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1434P|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1467P|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1432P|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1434P|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1493P|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1434P|CACNA1C_uc001qko.2_Missense_Mutation_p.T1465P|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1473P|CACNA1C_uc001qku.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1462P|CACNA1C_uc001qks.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1445P|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1442P|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1445P|CACNA1C_uc001qki.1_Missense_Mutation_p.T1181P|CACNA1C_uc010sea.1_Missense_Mutation_p.T136P	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1493	Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGAGGGTGAAACACCCTGTGG	0.587000														61			9		0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52468200	52468200	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52468200T>C	uc002pyd.3	-	4	1734	c.1506A>G	c.(1504-1506)ggA>ggG	p.G502G	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	502					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTGTGCAAATCCTCTGTTAT	0.453000														89			22		0	0	1	0	0
BC139719	0	broad.mit.edu	37	16	90160955	90160955	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90160955G>A	uc002fqq.3	+	2	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	BC139719_uc002fqp.3_Intron					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		TACGTGCCTCGCGCTGTGCTC	0.701000														201			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842218	72842218	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72842218C>A	uc002jlt.1	-	10	2493	c.2337G>T	c.(2335-2337)caG>caT	p.Q779H	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.Q779H	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	779					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CCCCCAGGAACTGCAAGAGCG	0.602000														224			36		4.14481e-20	5.0508e-20	1	1	0
RBM33	155435	broad.mit.edu	37	7	155504066	155504066	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155504066C>T	uc010lqk.1	+	7	1486	c.1118C>T	c.(1117-1119)aCc>aTc	p.T373I	RBM33_uc011kvv.1_Missense_Mutation_p.T182I	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	373	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ATGATGATGACCCCGCCACCC	0.602000														102			19		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59073457	59073457	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59073457G>A	uc002qto.3	-	5	2748	c.2187C>T	c.(2185-2187)cgC>cgT	p.R729R	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Silent_p.R729R	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	729					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		CGCTGTGGACGCGCTGGTGCT	0.617000														14			7		0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14625300	14625300	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14625300C>A	uc010neq.3	+	5	1385	c.625C>A	c.(625-627)Cca>Aca	p.P209T	GLRA2_uc004cwe.4_Missense_Mutation_p.P209T|GLRA2_uc011mio.2_Missense_Mutation_p.P120T|GLRA2_uc010nep.3_Missense_Mutation_p.P209T|GLRA2_uc011mip.2_Missense_Mutation_p.P187T	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	209					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	AAGTGATGGTCCAGTGCAAGT	0.403000														122			28		1.26454e-06	1.34912e-06	1	1	0
EFEMP1	2202	broad.mit.edu	37	2	56094228	56094228	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56094228C>T	uc002rzi.3	-	11	1963	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	EFEMP1_uc002rzj.3_Missense_Mutation_p.V488M|EFEMP1_uc010ypc.2_Missense_Mutation_p.V350M	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	488	Mediates interaction with TIMP3.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGGCCCCACTATTATTGTC	0.383000														131			43		0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10582264	10582264	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10582264C>A	uc001miv.2	-	3	767	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Nonsense_Mutation_p.E57*	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	161					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACAATAAATTCTGTTGTTTGT	0.443000														184			24		1.64293e-13	1.91604e-13	1	1	0
CLEC11A	6320	broad.mit.edu	37	19	51228461	51228461	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51228461C>T	uc002psy.3	+	3	887	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S		NM_002975	NP_002966	Q9Y240	CLC11_HUMAN	Homo sapiens C-type lectin domain family 11, member A (CLEC11A), mRNA.	237	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CTACAACTGGCCCGTGTGGCT	0.726000														27			5		0	0	1	0	0
OVOS2	0	broad.mit.edu	37	12	31288625	31288625	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31288625C>A	uc010sjy.1	-	17	2452	c.2452G>T	c.(2452-2454)Gag>Tag	p.E818*						RecName: Full=Ovostatin homolog 2; Flags: Precursor;													all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTGAGACTCCTCCACTTGA	0.378000														12			3		0.150653	0.151008	1	1	0
BCDIN3D	144233	broad.mit.edu	37	12	50232651	50232651	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50232651C>T	uc001rvh.3	-	1	424	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	128	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						AAAGTCAAGGCATCAGGAAAA	0.468000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		129			17		0	0	1	0	0
TTLL7	79739	broad.mit.edu	37	1	84373275	84373275	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:84373275C>T	uc001djc.3	-	15	2252	c.1856G>A	c.(1855-1857)cGc>cAc	p.R619H	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	619					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		AGAAAATGGGCGGGTGTCCCC	0.512000														64			16		0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240370368	240370368	+	Silent	SNP	C	T	T	rs140392779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240370368C>T	uc010pye.2	+	5	2493	c.2268C>T	c.(2266-2268)ggC>ggT	p.G756G	FMN2_uc010pyd.2_Silent_p.G752G	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	752					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G895G(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAAGAGGGCGGGGTGCTGA	0.547000														102			13		0	0	1	0	0
DUT	1854	broad.mit.edu	37	15	48628255	48628255	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48628255G>A	uc001zws.3	+	3	616	c.524G>A	c.(523-525)gGc>gAc	p.G175D	DUT_uc001zwt.3_Missense_Mutation_p.G64D|DUT_uc001zww.3_Missense_Mutation_p.G87D	NM_001025248	NP_001020420	P33316	DUT_HUMAN	Homo sapiens deoxyuridine triphosphatase (DUT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175	Substrate binding.			G -> S (in Ref. 6; BAF84204).	DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process	mitochondrion|nucleoplasm	dUTP diphosphatase activity|protein binding			kidney(2)	2		all_lung(180;0.00265)		all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07)		CCACGGTCAGGCTTGGCTGCA	0.328000								Modulation of nucleotide pools						46			12		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22168639	22168639	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22168639C>A	uc003xbn.2	+	15	1963	c.1815C>A	c.(1813-1815)ttC>ttA	p.F605L	PIWIL2_uc011kzf.1_Missense_Mutation_p.F605L|PIWIL2_uc010ltv.2_Missense_Mutation_p.F605L	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	605					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CCATGCATTTCTGGGCACTTT	0.418000														183			36		3.93418e-24	4.88392e-24	1	1	0
OR51E2	81285	broad.mit.edu	37	11	4703289	4703289	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4703289A>G	uc001lzk.2	-	1	897	c.653T>C	c.(652-654)tTt>tCt	p.F218S	OR51E2_uc021qcr.1_Missense_Mutation_p.F218S	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		TATTATCAGAAAATAGGACAA	0.488000														117			33		0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45287578	45287578	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45287578C>T	uc002ozs.3	+	4	900	c.837C>T	c.(835-837)agC>agT	p.S279S	CBLC_uc010ejt.3_Intron	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	279	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTATGTGAGCTCAGATGGCA	0.597000			M		AML						OREG0025542	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			8		0	0	1	0	0
SLC25A29	123096	broad.mit.edu	37	14	100759254	100759254	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100759254A>G	uc010twx.2	-	2	525	c.211T>C	c.(211-213)Tca>Cca	p.S71P	SLC25A29_uc010avv.3_Missense_Mutation_p.L27P|SLC25A29_uc001yha.3_Missense_Mutation_p.L93P			Q8N8R3	MCATL_HUMAN	Homo sapiens solute carrier family 25, member 29 (SLC25A29), nuclear gene encoding mitochondrial protein, mRNA.	301						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GAACTGGTTGAGGGGCGAGTC	0.706000														37			8		0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10445398	10445398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10445398G>A	uc003gmn.3	-	2	3042	c.2555C>T	c.(2554-2556)gCt>gTt	p.A852V	ZNF518B_uc021xme.1_Missense_Mutation_p.A852V	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						GCTACAGACAGCACTCTCTTT	0.458000														105			22		0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669896	131669896	+	Silent	SNP	G	A	A	rs138562691		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131669896G>A	uc004bwl.4	+	2	707	c.453G>A	c.(451-453)tcG>tcA	p.S151S	LRRC8A_uc010myp.3_Silent_p.S151S|LRRC8A_uc010myq.3_Silent_p.S151S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	151					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GCACCAGCTCGAAGCTGGAGC	0.587000														111			12		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022052	51022052	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51022052C>T	uc002pss.3	-	2	1055	c.918G>A	c.(916-918)gtG>gtA	p.V306V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	306						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GGTTGAGGTGCACGCGCTCGA	0.642000														195			39		0	0	1	0	0
APCS	325	broad.mit.edu	37	1	159558114	159558114	+	Silent	SNP	A	G	G	rs11545900		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159558114A>G	uc001ftv.3	+	1	384	c.288A>G	c.(286-288)agA>agG	p.R96R		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	96	Pentaxin.				acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATTGGAAGACACAAAGTTA	0.433000														133			18		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032615	153032615	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032615G>T	uc010nuk.2	+	3	673	c.402G>T	c.(400-402)caG>caT	p.Q134H	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.Q111H|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	111	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CACAGGCCCAGCTCACTGACA	0.697000														50			16		6.72482e-11	7.60803e-11	1	1	0
MIB1	57534	broad.mit.edu	37	18	19437203	19437203	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:19437203C>T	uc002ktq.3	+	19	2779	c.2779_splice	c.e19+1	p.S927_splice	MIB1_uc002ktp.3_Splice_Site_p.S566_splice	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	927					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGATGATATCTGTAAGTCGA	0.383000														66			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228996712	228996712	+	Missense_Mutation	SNP	A	G	G	rs77015733		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228996712A>G	uc002vpq.2	-	1	169	c.122T>C	c.(121-123)aTc>aCc	p.I41T	SPHKAP_uc002vpp.2_Missense_Mutation_p.I41T|SPHKAP_uc010zlx.1_Missense_Mutation_p.I41T	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	41						cytoplasm	protein binding	p.I41V(1)		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)		ACAGGCTGTGATGGAGTTCCC	0.473000														165			22		0	0	1	0	0
OTX1	5013	broad.mit.edu	37	2	63283061	63283061	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283061C>T	uc021vim.1	+	4	951	c.675C>T	c.(673-675)taC>taT	p.Y225Y	OTX1_uc002scd.3_Silent_p.Y225Y|OTX1_uc010ypt.2_Silent_p.Y159Y	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	225						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CCATGTCCTACGGCCAGGGCG	0.652000														174			54		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261692	39261692	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39261692G>T	uc010wfp.2	+	0	52	c.52G>T	c.(52-54)Gac>Tac	p.D18Y		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CTGCGGCCAAGACCTCTGTCA	0.627000														94			27		9.04412e-07	9.6547e-07	1	1	0
STAB2	55576	broad.mit.edu	37	12	104133248	104133248	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104133248T>C	uc001tjw.3	+	54	5940	c.5754_splice	c.e54+2	p.K1918_splice	STAB2_uc009zug.3_Splice_Site	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1918					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						AAACCAAAGGTAATTAAGACT	0.443000														82			24		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41002657	41002657	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41002657C>T	uc003opi.3	-	1	256	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	UNC5CL_uc010jxe.1_Missense_Mutation_p.V53M	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	53					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)					GGCTGGGACACTGGTTCCTCT	0.587000														202			47		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54127092	54127092	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54127092G>A	uc002rxp.2	-	28	3404	c.3348C>T	c.(3346-3348)aaC>aaT	p.N1116N	PSME4_uc010yop.1_Silent_p.N1002N|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.N491N|PSME4_uc010fbv.1_Silent_p.N260N|PSME4_uc021vho.1_Silent_p.N1101N	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1116					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCAATATCTGGTTGATAGAGG	0.348000														153			24		0	0	1	0	0
KIF23	9493	broad.mit.edu	37	15	69718750	69718750	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69718750A>C	uc002asb.3	+	8	1101	c.923A>C	c.(922-924)aAa>aCa	p.K308T	KIF23_uc002asc.3_Missense_Mutation_p.K308T|KIF23_uc010bii.3_Missense_Mutation_p.K198T|KIF23_uc010ukc.2_Missense_Mutation_p.K125T|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	308	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TTCAACATTAAATTAGTTCAG	0.403000														274			71		0	0	1	0	0
CNNM2	54805	broad.mit.edu	37	10	104836929	104836929	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104836929G>A	uc001kwm.3	+	7	2783	c.2620G>A	c.(2620-2622)Gcc>Acc	p.A874T	CNNM2_uc001kwn.3_Missense_Mutation_p.A852T	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	874					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CAACGAAGGCGCCATCTAGGC	0.652000														135			26		0	0	1	0	0
NR1H2	7376	broad.mit.edu	37	19	50881936	50881936	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50881936C>T	uc010enw.3	+	5	1099	c.630C>T	c.(628-630)ggC>ggT	p.G210G	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Silent_p.G113G	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	210					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.Q209K(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCAGCCAGGGCTCCGGGGAAG	0.642000														129			18		0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32481286	32481286	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32481286C>T	uc001rku.3	+	4	1978	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	BICD1_uc001rkv.3_Missense_Mutation_p.R633W|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	633					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton	p.R633Q(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TGCCATAATCCGGGACCAAAT	0.483000														184			42		0	0	1	0	0
MYLIP	29116	broad.mit.edu	37	6	16141919	16141919	+	Silent	SNP	G	A	A	rs139469255	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16141919G>A	uc003nbq.3	+	2	579	c.342G>A	c.(340-342)gaG>gaA	p.E114E	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	114	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GTTCCCCAGAGCAGGCAGTGG	0.532000														90			23		0	0	1	0	0
FEZF2	55079	broad.mit.edu	37	3	62357998	62357998	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62357998C>T	uc003dlh.2	-	0	753	c.546G>A	c.(544-546)ccG>ccA	p.P182P	FEZF2_uc003dli.2_Silent_p.P182P	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	182					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GGAGCTCAGACGGCGGGTACG	0.662000														42			11		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46277853	46277853	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46277853G>A	uc002xtk.3	+	19	3912	c.3651_splice	c.e19+1	p.Q1217_splice	NCOA3_uc002xtl.3_Intron|NCOA3_uc002xtn.3_Splice_Site_p.Q1217_splice|NCOA3_uc010ght.2_Intron|NCOA3_uc002xtm.3_Intron|NCOA3_uc010zyc.2_Splice_Site_p.Q1012_splice	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	1217	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						tgagctcccaggtgaggatga	0.507000														76			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179403534	179403534	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179403534G>A	uc021vsy.1	-	302	91543	c.91318C>T	c.(91318-91320)Ctt>Ttt	p.L30440F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L24135F|TTN_uc021vta.1_Missense_Mutation_p.L24068F|TTN_uc021vtb.1_Missense_Mutation_p.L23943F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	31367	Ig-like 137.						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)			GATATTGAAAGAATCTCAAGT	0.373000														123			50		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114069698	114069698	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114069698G>A	uc003ebi.3	-	3	1407	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	ZBTB20_uc003ebj.3_Silent_p.P336P|ZBTB20_uc010hqp.3_Silent_p.P336P|ZBTB20_uc003ebk.3_Silent_p.P336P|ZBTB20_uc003ebl.3_Silent_p.P336P|ZBTB20_uc003ebm.3_Silent_p.P336P|ZBTB20_uc003ebn.3_Silent_p.P336P|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGCCTGCTCGGGTTGGGTGG	0.637000														201			41		0	0	1	0	0
CPSF3L	54973	broad.mit.edu	37	1	1255909	1255909	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1255909G>A	uc001aef.1	-	5	658	c.145_splice	c.e5-1	p.R49_splice	CPSF3L_uc001aee.1_Splice_Site_p.R43_splice|CPSF3L_uc009vjz.1_Splice_Site_p.R43_splice|CPSF3L_uc010nyj.1_Splice_Site_p.R14_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Intron|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_3'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	43						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGGAAGCGTCGCTAGGAAGGA	0.607000														182			52		0	0	1	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635261	122635261	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122635261G>T	uc003vkl.1	-	0	494	c.428C>A	c.(427-429)cCt>cAt	p.P143H		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	143					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATAGCTGAAGGGATGATTGT	0.388000														89			22		7.45023e-12	8.53574e-12	1	1	0
NRCAM	4897	broad.mit.edu	37	7	107825029	107825029	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107825029G>T	uc022aka.1	-	17	2171	c.2065C>A	c.(2065-2067)Cac>Aac	p.H689N	NRCAM_uc011kmk.2_Missense_Mutation_p.H689N|NRCAM_uc003vfd.3_Missense_Mutation_p.H670N|NRCAM_uc003vfe.3_Missense_Mutation_p.H670N|NRCAM_uc003vfc.3_Missense_Mutation_p.H673N	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	689	Fibronectin type-III 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTGGCTTGTGCATTGCATCT	0.502000														56			10		0.00829132	0.00840732	1	1	0
VWA5A	4013	broad.mit.edu	37	11	123993815	123993815	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123993815G>T	uc001pzu.3	+	7	1118	c.909G>T	c.(907-909)caG>caT	p.Q303H	VWA5A_uc001pzr.3_Missense_Mutation_p.Q303H|VWA5A_uc001pzs.3_Missense_Mutation_p.Q303H|VWA5A_uc010sae.2_Missense_Mutation_p.Q319H|VWA5A_uc001pzt.3_Missense_Mutation_p.Q303H	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	303	VWFA.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						ATACATCTCAGCTGCGAATAC	0.473000														52			25		3.01185e-09	3.33505e-09	1	1	0
ZAN	7455	broad.mit.edu	37	7	100352880	100352880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100352880C>T	uc003uwj.3	+	14	3321	c.3156C>T	c.(3154-3156)tcC>tcT	p.S1052S	ZAN_uc003uwk.3_Silent_p.S1052S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1052	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCTACGAATCCTGTGCTTGTC	0.567000														368			78		0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201982144	201982144	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201982144A>G	uc001gxg.4	+	4	3860	c.668A>G	c.(667-669)gAt>gGt	p.D223G	ELF3_uc001gxi.4_Missense_Mutation_p.D223G|ELF3_uc001gxh.4_Missense_Mutation_p.D223G	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	223					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATCCCACTGATGGCAAGCTC	0.637000														83			29		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7285598	7285598	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7285598G>T	uc009xio.2	-	8	1133	c.1042C>A	c.(1042-1044)Ctg>Atg	p.L348M	SFMBT2_uc001ijn.2_Missense_Mutation_p.L348M|SFMBT2_uc010qay.2_Missense_Mutation_p.L348M	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	348					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GCATGGCACAGCATTGACAGT	0.408000														83			22		6.44725e-10	7.21145e-10	1	1	0
SLC28A1	9154	broad.mit.edu	37	15	85488368	85488368	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85488368G>A	uc002blg.3	+	18	2089	c.1887G>A	c.(1885-1887)gaG>gaA	p.E629E	SLC28A1_uc010bnb.3_Silent_p.E629E|SLC28A1_uc010upe.2_Silent_p.E463E|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	629					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAATCCAGAGTTCAGCCCAG	0.557000														116			14		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124117671	124117671	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124117671C>A	uc003ehg.3	+	12	2420	c.2293C>A	c.(2293-2295)Ctg>Atg	p.L765M	KALRN_uc010hrv.1_Missense_Mutation_p.L765M|KALRN_uc003ehf.1_Missense_Mutation_p.L765M|KALRN_uc011bjy.1_Missense_Mutation_p.L765M|KALRN_uc003ehh.1_Missense_Mutation_p.L111M	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	765					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						GAAGATCAAGCTGGACATCTT	0.597000														148			26		3.08376e-08	3.36903e-08	1	1	0
EXTL1	2134	broad.mit.edu	37	1	26361822	26361822	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26361822G>T	uc001blf.3	+	10	2882	c.2015G>T	c.(2014-2016)aGc>aTc	p.S672I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	672					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-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;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AAGTACCGCAGCCTGGAGAAG	0.711000														85			18		2.4624e-09	2.73094e-09	1	1	0
DNAJC21	134218	broad.mit.edu	37	5	34949740	34949740	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34949740G>A	uc003jjb.3	+	9	1505	c.1278G>A	c.(1276-1278)gaG>gaA	p.E426E	DNAJC21_uc003jjc.3_Intron|DNAJC21_uc010iuu.1_Intron|DNAJC21_uc003jjd.3_Intron	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	395					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			gagatggagagagcgagcaca	0.438000														29			3		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27456554	27456554	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27456554C>A	uc002rji.3	+	20	3439	c.3277C>A	c.(3277-3279)Ctg>Atg	p.L1093M	CAD_uc010eyw.3_Missense_Mutation_p.L1030M	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1093	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCCTATGTGCTGAGCGGTGC	0.592000														174			38		4.0492e-12	4.65414e-12	1	1	0
POLRMT	5442	broad.mit.edu	37	19	629762	629762	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:629762C>T	uc002lpf.1	-	2	656	c.600G>A	c.(598-600)ggG>ggA	p.G200G		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	200					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTCAGCTTCCCAGGGGCCT	0.701000														60			13		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109872	95109872	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95109872G>A	uc001ydt.3	+	2	909	c.821G>A	c.(820-822)aGc>aAc	p.S274N						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GATGAGCACAGCGCTGTGTGG	0.592000														73			15		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187947	57187947	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57187947C>T	uc010kzo.3	-	4	1446	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGCTGAGGAGCGCCTAAAGTC	0.448000														52			8		0	0	1	0	0
APOL2	23780	broad.mit.edu	37	22	36623483	36623483	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36623483G>T	uc011amm.2	-	5	1360	c.1317C>A	c.(1315-1317)atC>atA	p.I439I	APOL2_uc003aoz.3_Silent_p.I327I|APOL2_uc003apa.3_Silent_p.I327I	NM_145637	NP_663612	Q9BQE5	APOL2_HUMAN	Homo sapiens apolipoprotein L, 2 (APOL2), transcript variant beta, mRNA.	327					acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development	endoplasmic reticulum membrane|extracellular region	high-density lipoprotein particle binding|lipid binding|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GCATCTCATGGATCTTGGTGA	0.557000														186			46		1.7489e-18	2.11342e-18	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140996169	140996169	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140996169C>T	uc004fbt.3	+	3	3303	c.2979C>T	c.(2977-2979)ggC>ggT	p.G993G	MAGEC1_uc010nsl.2_Silent_p.G60G|MAGEC1_uc022cfi.1_Silent_p.G652G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	993	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGCAGGGCATGTCCCAGA	0.483000										HNSCC(15;0.026)				177			41		0	0	1	0	0
C16orf71	146562	broad.mit.edu	37	16	4790160	4790160	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4790160C>T	uc002cxn.3	+	3	745	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	95										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						ACAGCCAGTTCTGGTGCCTGC	0.423000														212			10		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76120077	76120077	+	Missense_Mutation	SNP	C	T	T	rs145227095	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76120077C>T	uc002juj.1	-	7	1201	c.1075G>A	c.(1075-1077)Gtg>Atg	p.V359M	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192M|TMC6_uc002juk.2_Missense_Mutation_p.V359M|TMC6_uc010dhg.1_Missense_Mutation_p.V359M|TMC6_uc002jul.1_Missense_Mutation_p.V359M|TMC6_uc002jum.4_Missense_Mutation_p.V150M|TMC6_uc002jun.4_Missense_Mutation_p.V359M|TMC6_uc002juo.2_Missense_Mutation_p.V132M	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TACCTGTACACCAGGGTGATG	0.557000														117			28		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995573	144995573	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144995573G>T	uc003zaf.1	-	31	8997	c.8827C>A	c.(8827-8829)Ctg>Atg	p.L2943M	PLEC_uc003zab.1_Missense_Mutation_p.L2806M|PLEC_uc003zac.1_Missense_Mutation_p.L2810M|PLEC_uc003zad.2_Missense_Mutation_p.L2806M|PLEC_uc003zae.1_Missense_Mutation_p.L2774M|PLEC_uc003zag.1_Missense_Mutation_p.L2784M|PLEC_uc003zah.2_Missense_Mutation_p.L2792M|PLEC_uc003zaj.2_Missense_Mutation_p.L2833M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2943	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGGCCTCCAGCAGGCGGATG	0.667000														280			63		5.10508e-28	6.40477e-28	1	1	0
RAPGEF4	11069	broad.mit.edu	37	2	173848280	173848280	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173848280T>G	uc002uhv.4	+	10	1248	c.1061T>G	c.(1060-1062)aTt>aGt	p.I354S	RAPGEF4_uc002uhu.2_Missense_Mutation_p.I354S|RAPGEF4_uc002uhw.4_Missense_Mutation_p.I210S|RAPGEF4_uc010zec.1_Missense_Mutation_p.I201S|RAPGEF4_uc010zed.1_Missense_Mutation_p.I183S|RAPGEF4_uc010zee.1_Missense_Mutation_p.I201S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.I183S|RAPGEF4_uc010zef.1_Missense_Mutation_p.I134S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.I181S|RAPGEF4_uc010fqp.1_Missense_Mutation_p.I134S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.I134S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	354					G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity	p.I354M(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CTTCTTCATATTAAAGCCTTA	0.388000														95			17		0	0	1	0	0
TMEM67	91147	broad.mit.edu	37	8	94800075	94800075	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:94800075C>T	uc011lgk.2	+	13	1487	c.1416C>T	c.(1414-1416)gtC>gtT	p.V472V	TMEM67_uc010mat.1_Silent_p.V387V|TMEM67_uc010maw.2_Silent_p.V178V|TMEM67_uc003yga.4_Silent_p.V391V	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	472					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TAAATAGTGTCCACCTTGTAC	0.343000														116			20		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121383800	121383800	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121383800G>T	uc001pxx.3	+	6	1157	c.1028G>T	c.(1027-1029)aGa>aTa	p.R343I		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	343					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTGTCACAAGACATCCTATT	0.522000														114			16		1.37285e-15	1.62742e-15	1	1	0
NPY	4852	broad.mit.edu	37	7	24325010	24325010	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24325010G>A	uc003sww.2	+	1	239	c.151G>A	c.(151-153)Gcg>Acg	p.A51T		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	51					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						ATACTACTCGGCGCTGCGACA	0.677000														101			22		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26816642	26816642	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26816642C>T	uc001rhg.3	-	14	2106	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	563					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AATCCTGCTGCGAGTGTCTCA	0.473000														409			100		0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177578	7177578	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7177578C>A	uc001qsj.3	+	14	2409	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	C1S_uc001qsk.3_Missense_Mutation_p.L564M|C1S_uc001qsl.3_Missense_Mutation_p.L564M|C1S_uc009zfr.3_Missense_Mutation_p.L397M|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	564	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGATGGGGACCTGGGACTGAT	0.552000														67			24		5.45024e-15	6.43213e-15	1	1	0
USP11	8237	broad.mit.edu	37	X	47103933	47103933	+	Missense_Mutation	SNP	C	A	A	rs143527670		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103933C>A	uc004dhp.3	+	13	1956	c.1956C>A	c.(1954-1956)gaC>gaA	p.D652E	USP11_uc004dhq.3_Missense_Mutation_p.D379E	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	652					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ATGATGAGGACGATGGGGATG	0.567000														73			13		1.49906e-05	1.573e-05	1	1	0
SHMT2	6472	broad.mit.edu	37	12	57626358	57626358	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57626358G>T	uc001snf.2	+	6	923	c.717_splice	c.e6+1	p.E239_splice	SHMT2_uc001snh.2_Splice_Site_p.E241_splice|SHMT2_uc009zpk.2_Splice_Site_p.E229_splice|SHMT2_uc001sng.2_Splice_Site_p.E135_splice|SHMT2_uc001sni.2_Splice_Site_p.E218_splice|SHMT2_uc010srg.2_Splice_Site_p.E248_splice|SHMT2_uc010srh.2_Splice_Site_p.E218_splice|SHMT2_uc001snj.2_Splice_Site_p.E143_splice|SHMT2_uc010sri.2_Splice_Site_p.E218_splice|SHMT2_uc001snk.2_Splice_Site_p.E143_splice|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	239						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCATGAGAGAGGTTGGTGGGG	0.667000														261			48		6.31075e-24	7.82795e-24	1	1	0
C2orf43	60526	broad.mit.edu	37	2	20939749	20939749	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20939749A>C	uc002rec.3	-	4	718	c.685T>G	c.(685-687)Tta>Gta	p.L229V	C2orf43_uc010ykb.1_Missense_Mutation_p.L99V|C2orf43_uc010ykc.1_Missense_Mutation_p.L181V|C2orf43_uc010ykd.1_Intron|C2orf43_uc010ykf.1_Missense_Mutation_p.L99V|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.L187V|C2orf43_uc010yka.1_Intron	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	229										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AATGGTTCTAATATATTCAAT	0.343000														101			40		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700276	17700276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700276G>A	uc002grm.3	+	2	4483	c.4014G>A	c.(4012-4014)tcG>tcA	p.S1338S	RAI1_uc002grn.1_Silent_p.S1338S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1338						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AGATCACCTCGCCCAGCCTCA	0.627000														262			53		0	0	1	0	0
C14orf21	161424	broad.mit.edu	37	14	24771544	24771544	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24771544C>T	uc001wol.1	+	4	1120	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	353							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		GGAGCACTTGCAGGGGCAGCT	0.572000														249			53		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943054	232943054	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232943054G>T	uc001hvh.2	+	0	2417	c.2285G>T	c.(2284-2286)aGt>aTt	p.S762I		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	620	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GAAGTTGTGAGTCCTGCAAAT	0.338000														112			27		4.87955e-14	5.71551e-14	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125863974	125863974	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125863974C>A	uc011lzh.2	+	24	3153	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc011lzj.2_Missense_Mutation_p.L346M	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	1007					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CAAGAACCAGCTGAGAGAAAT	0.488000														47			11		1.5842e-08	1.73923e-08	1	1	0
C1QTNF3	114899	broad.mit.edu	37	5	34033554	34033554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033554C>T	uc003jio.3	-	2	566	c.425G>A	c.(424-426)gGa>gAa	p.G142E	C1QTNF3_uc003jin.3_Missense_Mutation_p.G69E	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	69	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					GCCATTGTTTCCATGGTTTCC	0.483000														153			23		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802090	34802090	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802090G>A	uc002kzz.3	+	9	1656	c.1634G>A	c.(1633-1635)cGa>cAa	p.R545Q	KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Missense_Mutation_p.R404Q	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	545										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		GGTACTTTCCGACTCAGTCCT	0.478000														27			4		0	0	1	0	0
USPL1	10208	broad.mit.edu	37	13	31232400	31232400	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31232400A>C	uc001utc.2	+	8	2618	c.2186A>C	c.(2185-2187)gAa>gCa	p.E729A	USPL1_uc001utd.2_Missense_Mutation_p.E400A|USPL1_uc001ute.1_Missense_Mutation_p.E400A	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	729					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAAAGAAACTACAGCA	0.363000														115			28		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182844012	182844012	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182844012C>T	uc001gpr.3	+	15	1913	c.1738C>T	c.(1738-1740)Cag>Tag	p.Q580*	DHX9_uc001gps.3_Nonsense_Mutation_p.Q366*	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	580					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AGACTGCATTCAGATGACCCA	0.383000														115			41		0	0	1	0	0
ALG5	29880	broad.mit.edu	37	13	37573380	37573380	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37573380G>A	uc001uvy.3	-	0	125	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	ALG5_uc010teq.2_Missense_Mutation_p.L20F|ALG5_uc010ter.2_Non-coding_Transcript|EXOSC8_uc001uvz.2_5'Flank|EXOSC8_uc001uwa.3_5'Flank	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	20					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		ACCAGTACGAGGGCTGCGGCC	0.701000														71			11		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179730620	179730620	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179730620C>A	uc002une.2	-	16	2716	c.2598G>T	c.(2596-2598)aaG>aaT	p.K866N	CCDC141_uc002unf.1_Missense_Mutation_p.K345N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	291	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GCTGTAGGTTCTTTGCAGAAA	0.478000														315			73		6.01781e-45	7.66755e-45	1	1	0
ERC2	26059	broad.mit.edu	37	3	55768825	55768825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55768825G>A	uc021wzo.1	-	13	2826	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	ERC2_uc003dhq.1_Non-coding_Transcript|ERC2_uc003dhr.1_Nonsense_Mutation_p.R892*|ERC2_uc003dht.1_Nonsense_Mutation_p.R375*	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	896						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTACTAGTCGGTCTTTTTCC	0.478000														55			9		0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2523018	2523018	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2523018C>T	uc001ajy.2	-	22	2432	c.2218G>A	c.(2218-2220)Gtc>Atc	p.V740I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	740					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGACTGTGGACGTCTGTCTTG	0.617000														279			64		0	0	1	0	0
FAM40A	85369	broad.mit.edu	37	1	110584457	110584457	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110584457C>A	uc001dza.1	+	7	878	c.859C>A	c.(859-861)Ctc>Atc	p.L287I	FAM40A_uc001dyz.1_Missense_Mutation_p.L192I|FAM40A_uc009wfp.1_Missense_Mutation_p.L111I	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	287						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAAGAAAGTTCTCTTGCTGCT	0.502000														244			65		2.69673e-31	3.40036e-31	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232263043	232263043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232263043C>T	uc002vrs.3	+	1	793	c.613C>T	c.(613-615)Cag>Tag	p.Q205*		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	205					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CGACATCCTGCAGTGGGGCTT	0.602000														218			81		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57286274	57286274	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57286274G>A	uc002qnr.2	-	10	1748	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	BC036412_uc010ygp.1_Intron|BC036412_uc002qnp.1_Intron|PEG3_uc010ygr.1_Missense_Mutation_p.R252W|PEG3_uc010ygq.1_Missense_Mutation_p.R252W|PEG3_uc010etp.2_Missense_Mutation_p.R456W|PEG3_uc010ygs.1_Missense_Mutation_p.R456W|PEG3_uc002qnq.2_Missense_Mutation_p.R456W	NM_015363	NP_056178	Q9GZU2	PEG3_HUMAN	Homo sapiens zinc finger, imprinted 2 (ZIM2), transcript variant 1, mRNA.	594					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCATGTTTCCGCTGATAACGA	0.468000														93			5		0	0	1	0	0
ARFIP2	23647	broad.mit.edu	37	11	6500398	6500398	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6500398A>G	uc001mdk.3	-	3	538	c.287T>C	c.(286-288)gTc>gCc	p.V96A	ARFIP2_uc010ran.2_Missense_Mutation_p.V129A|ARFIP2_uc010ral.2_Missense_Mutation_p.V58A|ARFIP2_uc010ram.2_Intron|ARFIP2_uc009yfe.2_3'UTR|FXC1_uc001mdn.4_5'Flank|FXC1_uc001mdo.4_5'Flank	NM_012402	NP_001229784	P53365	ARFP2_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 2 (ARFIP2), transcript variant 2, mRNA.	96					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCATTTCTTGACGATGTCAAA	0.502000														125			26		0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6946916	6946916	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6946916G>A	uc001qra.1	+	12	1763	c.1729G>A	c.(1729-1731)Gac>Aac	p.D577N	GPR162_uc001qrb.1_Missense_Mutation_p.D385N|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						GCAGCGCATGGACCTGAGTCA	0.647000														41			10		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9489210	9489210	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9489210G>A	uc010coc.3	+	2	450	c.221G>A	c.(220-222)gGc>gAc	p.G74D	WDR16_uc002gly.3_Missense_Mutation_p.G64D|WDR16_uc002glz.3_Intron			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	64						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CAGGGTCATGGCAACAACGTC	0.473000														196			49		0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102689733	102689733	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102689733C>A	uc001krs.3	+	7	2854	c.2312C>A	c.(2311-2313)gCt>gAt	p.A771D	FAM178A_uc001krt.4_Missense_Mutation_p.A771D	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	771																	GGACAAAGTGCTGTAGAAAAA	0.279000														42			6		0.0215528	0.0217347	1	1	0
HBQ1	3049	broad.mit.edu	37	16	231010	231010	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:231010C>T	uc002cfz.3	+	2	485	c.332C>T	c.(331-333)gCc>gTc	p.A111V		NM_005331	NP_005322	P09105	HBAT_HUMAN	Homo sapiens hemoglobin, theta 1 (HBQ1), mRNA.	111						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			large_intestine(1)	1		all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GTAACCCTCGCCCGGCACTAC	0.706000														99			25		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220370767	220370767	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220370767C>A	uc002vlv.3	+	10	1341	c.966C>A	c.(964-966)agC>agA	p.S322R	GMPPA_uc002vlr.3_Missense_Mutation_p.S322R	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	322					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TCCGGGAGAGCATCGTCCTCC	0.637000														33			7		5.18039e-06	5.47662e-06	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20568888	20568888	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20568888C>A	uc003gpr.1	+	26	2933	c.2729C>A	c.(2728-2730)cCt>cAt	p.P910H	SLIT2_uc003gps.1_Missense_Mutation_p.P902H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	910					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTTCAGGTCCTGTGGATGTC	0.333000														170			34		3.11337e-16	3.70767e-16	1	1	0
AGA	175	broad.mit.edu	37	4	178358577	178358577	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178358577G>A	uc003iuu.2	-	4	732	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	AGA_uc010irt.2_5'Flank|AGA_uc003iuw.3_Missense_Mutation_p.R202C|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	202					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TCATGACCACGATCATCTTCT	0.373000														45			10		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439135	120439135	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120439135G>A	uc021vnk.1	+	0	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.A236T|TMEM177_uc002tmc.1_Missense_Mutation_p.A236T|TMEM177_uc002tmd.2_Missense_Mutation_p.A236T|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	236						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CCGCCGCACGGCCTCCCTCTC	0.617000														147			18		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193583	28193583	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193583G>A	uc003adj.3	-	0	3904	c.2949C>T	c.(2947-2949)ggC>ggT	p.G983G		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	983							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGACGGCTGCGCCTGACGCTT	0.706000			T	ETV6	"""AML, meningioma"""									69			22		0	0	1	0	0
TMEM201	199953	broad.mit.edu	37	1	9661306	9661306	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9661306G>A	uc021ofy.1	+	4	807	c.750G>A	c.(748-750)ctG>ctA	p.L250L	TMEM201_uc001apy.3_Silent_p.L250L|TMEM201_uc021ofz.1_Silent_p.L91L	NM_001130924	NP_001124396	Q5SNT2	TM201_HUMAN	Homo sapiens transmembrane protein 201 (TMEM201), transcript variant 1, mRNA.	250						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCCCTGCCACCTGGTG	0.697000														200			10		0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13370206	13370206	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13370206T>G	uc003gmu.2	-	6	857	c.642A>C	c.(640-642)agA>agC	p.R214S	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_3'UTR|RAB28_uc011bwz.1_3'UTR	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	214					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						ACATAGAGCTTCTAGGAGGGT	0.453000														77			20		0	0	1	0	0
TRIB3	57761	broad.mit.edu	37	20	372084	372084	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:372084C>T	uc002wdn.3	+	3	843	c.526C>T	c.(526-528)Cga>Tga	p.R176*	TRIB3_uc002wdm.3_Nonsense_Mutation_p.R149*	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN	Homo sapiens tribbles homolog 3 (Drosophila) (TRIB3), mRNA.	149	Protein kinase.				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of MAP kinase activity|regulation of glucose transport|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		CAGCCTGGTGCGAAGCCGCCA	0.657000														96			25		0	0	1	0	0
PDLIM3	27295	broad.mit.edu	37	4	186423604	186423604	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186423604C>T	uc003ixw.4	-	7	1063	c.939G>A	c.(937-939)cgG>cgA	p.R313R	PDLIM3_uc003ixx.4_Silent_p.R265R|PDLIM3_uc010isi.3_Non-coding_Transcript	NM_014476	NP_055291	Q53GG5	PDLI3_HUMAN	Homo sapiens PDZ and LIM domain 3 (PDLIM3), transcript variant 1, mRNA.	313	LIM zinc-binding.					sarcomere	zinc ion binding	p.R313Q(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		ACTCAGGGTGCCGGTACTTAT	0.507000														152			32		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101584767	101584767	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101584767C>T	uc010yvt.1	+	10	1129	c.1127C>T	c.(1126-1128)tCg>tTg	p.S376L	NPAS2_uc002tap.1_Missense_Mutation_p.S311L	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	311					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.H375Y(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAAGGGAAGTCGTGTTGCTAC	0.443000														182			34		0	0	1	0	0
TMEM165	55858	broad.mit.edu	37	4	56277926	56277926	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56277926C>T	uc003hax.2	+	1	620	c.353C>T	c.(352-354)gCc>gTc	p.A118V	TMEM165_uc011bzy.1_Missense_Mutation_p.A55V	NM_018475	NP_060945	Q9HC07	TM165_HUMAN	Homo sapiens transmembrane protein 165 (TMEM165), mRNA.	118						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TTTATAGCAGCCATCATGGCA	0.448000														59			19		0	0	1	0	0
PRR5L	79899	broad.mit.edu	37	11	36422814	36422814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:36422814G>A	uc001mwo.4	+	1	532	c.143G>A	c.(142-144)aGc>aAc	p.S48N	PRR5L_uc001mwp.3_Missense_Mutation_p.S48N|PRR5L_uc009ykk.3_Intron|PRR5L_uc010rfc.2_Missense_Mutation_p.S48N	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	48										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CTGCAGCTGAGCTCCAGCTCA	0.657000														59			11		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52534638	52534638	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52534638C>A	uc001wzo.3	-	1	706	c.472G>T	c.(472-474)Gcc>Tcc	p.A158S	NID2_uc010tqs.2_Missense_Mutation_p.A158S|NID2_uc010tqt.1_Missense_Mutation_p.A158S|NID2_uc001wzp.3_Missense_Mutation_p.A158S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	158	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCCAGGTGGCCAGGAAGGCG	0.667000														329			86		5.72486e-32	7.22319e-32	1	1	0
CEP78	84131	broad.mit.edu	37	9	80866840	80866840	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80866840A>G	uc004aky.4	+	8	1365	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	CEP78_uc004akx.2_Silent_p.K362K|CEP78_uc010mpp.3_Silent_p.K363K	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	362					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTACAAAGAAACCTGTAAGTA	0.433000														20			3		0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4732890	4732890	+	Silent	SNP	C	T	T	rs61734738		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4732890C>T	uc002cxa.3	+	13	1562	c.1425C>T	c.(1423-1425)gaC>gaT	p.D475D	MGRN1_uc002cwz.3_Silent_p.D475D|MGRN1_uc010uxo.2_Silent_p.D453D|MGRN1_uc010uxp.2_Silent_p.D453D|MGRN1_uc010btw.3_Silent_p.D454D|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	475					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGGACGTGGACGCCCCTCCCC	0.701000														53			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9054331	9054331	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9054331C>A	uc002mkp.3	-	3	31495	c.31291G>T	c.(31291-31293)Gaa>Taa	p.E10431*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10433	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						GTGATGTGTTCCATAATGCCA	0.458000														40			6		0.00198382	0.00202356	1	1	0
AKR1C4	1109	broad.mit.edu	37	10	5247767	5247767	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5247767C>T	uc001ihw.2	+	3	450	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	139					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity	p.F139F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AAGTAATATTCGACACAGTGG	0.448000														85			21		0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21148813	21148813	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21148813T>C	uc002kum.4	-	3	711	c.437A>G	c.(436-438)tAc>tGc	p.Y146C	NPC1_uc010xba.1_5'UTR	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	146					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCCGACGTAGTATTGTAACTC	0.378000														79			16		0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86354302	86354302	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86354302G>A	uc002sqw.2	+	12	1036	c.970G>A	c.(970-972)Gtt>Att	p.V324I	PTCD3_uc010ytc.1_Non-coding_Transcript|PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	324						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AAGACACATGGTTGCACAGAA	0.368000														92			11		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30010931	30010931	+	Missense_Mutation	SNP	A	G	G	rs141258029	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30010931A>G	uc001zcr.3	-	20	3890	c.3415T>C	c.(3415-3417)Tct>Cct	p.S1139P	TJP1_uc010azl.3_Missense_Mutation_p.S1127P|TJP1_uc001zcq.3_Missense_Mutation_p.S1063P|TJP1_uc001zcs.3_Missense_Mutation_p.S1059P	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1139					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTGTCGTAAGACAGAGGGGCT	0.537000														281			57		0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3966072	3966072	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3966072G>T	uc002fxe.3	-	29	4922	c.4858C>A	c.(4858-4860)Ctg>Atg	p.L1620M	ZZEF1_uc002fxh.3_5'UTR|ZZEF1_uc002fxi.3_5'UTR|ZZEF1_uc002fxj.1_Missense_Mutation_p.L233M	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1620							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGACAGGTCAGAAGTTCCAAC	0.428000														25			10		1.58986e-06	1.69271e-06	1	1	0
OR4N4	283694	broad.mit.edu	37	15	22383287	22383287	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22383287C>A	uc001yuc.1	+	6	1796	c.815C>A	c.(814-816)tCt>tAt	p.S272Y	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.S272Y	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S272Y(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AAGATGGTTTCTCTCTTTCAC	0.418000														164			38		3.21399e-22	3.95801e-22	1	1	0
ALK	238	broad.mit.edu	37	2	30142927	30142927	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30142927C>T	uc002rmy.3	-	0	1551	c.599G>A	c.(598-600)aGa>aAa	p.R200K		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	200					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCTTCCCTCTCTGCCCACTTC	0.622000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					105			41		0	0	1	0	0
PSEN2	5664	broad.mit.edu	37	1	227077790	227077790	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227077790C>T	uc009xeo.1	+	8	1269	c.842C>T	c.(841-843)gCc>gTc	p.A281V	PSEN2_uc009xep.1_Missense_Mutation_p.A281V|PSEN2_uc001hqk.2_Non-coding_Transcript	NM_000447	NP_000438	P49810	PSN2_HUMAN	Homo sapiens presenilin 2 (Alzheimer disease 4) (PSEN2), transcript variant 1, mRNA.	281					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity	Golgi membrane|Z disc|apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTAGAAACTGCCCAGGAGAGA	0.582000														195			46		0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113514322	113514322	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113514322G>A	uc002tie.2	-	3	705	c.626C>T	c.(625-627)cCa>cTa	p.P209L	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.P44L|CKAP2L_uc010yxq.1_Missense_Mutation_p.P44L	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	209						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTCAGTCTTTGGCTTACTTCT	0.353000														62			11		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72994599	72994599	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72994599C>A	uc003hgg.2	+	1	695	c.597C>A	c.(595-597)ttC>ttA	p.F199L	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Missense_Mutation_p.F100L|NPFFR2_uc003hgh.2_Missense_Mutation_p.F97L	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	199					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TTGGCATATTCTGCATGCCTA	0.368000														142			38		2.87052e-16	3.42015e-16	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68229501	68229501	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229501A>G	uc001xka.2	-	32	6186	c.6047T>C	c.(6046-6048)gTt>gCt	p.V2016A	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_5'Flank|ZFYVE26_uc001xkc.4_Missense_Mutation_p.V2016A	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2016					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GGCAGCAGCAACTAAAATATT	0.488000														67			10		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325119	79325119	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79325119G>T	uc010mpk.3	-	7	2195	c.2071C>A	c.(2071-2073)Cca>Aca	p.P691T	PRUNE2_uc022bih.1_Missense_Mutation_p.P513T	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	691					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATGGAGCTTGGCTTATGCTCT	0.453000														48			14		0.00185496	0.00189487	1	1	0
SLC25A21	89874	broad.mit.edu	37	14	37194861	37194861	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37194861C>T	uc001wtz.2	-	5	662	c.352G>A	c.(352-354)Gga>Aga	p.G118R	SLC25A21_uc021rsf.1_Missense_Mutation_p.G118R	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	118					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		AGTCCAGATCCCAATCCAGCA	0.358000														60			15		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75980460	75980460	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75980460A>G	uc002baw.3	-	2	3039	c.2946T>C	c.(2944-2946)gaT>gaC	p.D982D		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	982	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ATGGGATATCATCTTCTGTGG	0.572000														264			59		0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34802046	34802046	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34802046C>T	uc002kzz.3	+	9	1612	c.1590C>T	c.(1588-1590)cgC>cgT	p.R530R	KIAA1328_uc002lab.3_3'UTR|KIAA1328_uc002lac.1_Silent_p.R389R	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	530										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AACCTCAGCGCTATCCCTCCA	0.498000														41			5		0	0	1	0	0
TPM2	7169	broad.mit.edu	37	9	35685060	35685060	+	Splice_Site	SNP	C	A	A	rs1136580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35685060C>A	uc003zxq.3	-	6	878	c.639_splice	c.e6+1	p.E213_splice	TPM2_uc003zxs.3_Intron|TPM2_uc010mkz.3_Splice_Site_p.E213_splice|TPM2_uc011lpa.2_3'UTR	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	213					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGGTCACTACCTCCTCCTCT	0.627000														148			47		8.72198e-27	1.09116e-26	1	1	0
ARSH	347527	broad.mit.edu	37	X	2933300	2933300	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:2933300C>A	uc011mhj.2	+	3	630	c.630C>A	c.(628-630)tcC>tcA	p.S210S		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	210						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TTTTCACTTCCTGGTACTCTA	0.453000														39			18		1.56452e-12	1.80666e-12	1	1	0
COL4A5	1287	broad.mit.edu	37	X	107936017	107936017	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107936017C>A	uc022ccg.1	+	49	4770	c.4568C>A	c.(4567-4569)cCt>cAt	p.P1523H	COL4A5_uc004enz.1_Missense_Mutation_p.P1517H	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1517	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGTACCATGCCTTTCATGTTC	0.438000									Alport syndrome with Diffuse Leiomyomatosis					85			29		1.08312e-15	1.2841e-15	1	1	0
SIPA1L3	23094	broad.mit.edu	37	19	38610224	38610224	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38610224C>T	uc002ohk.3	+	8	3079	c.2570C>T	c.(2569-2571)aCa>aTa	p.T857I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	857					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGGAAAAGACAAAAGCACGG	0.577000														128			22		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168391	8168391	+	Missense_Mutation	SNP	C	T	T	rs117044677	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168391C>T	uc002gkr.3	+	17	2369	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	PFAS_uc010vuv.2_Missense_Mutation_p.A319V|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	743					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCCGGCTGGCCGTGGCCGAA	0.632000														74			18		0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223465901	223465901	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223465901C>A	uc001hnx.3	-	1	875	c.241G>T	c.(241-243)Gcc>Tcc	p.A81S	SUSD4_uc001hny.4_Missense_Mutation_p.A81S|SUSD4_uc010puw.2_5'UTR|SUSD4_uc001hnz.2_Missense_Mutation_p.A81S|SUSD4_uc010pux.1_Intron	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	Homo sapiens sushi domain containing 4 (SUSD4), transcript variant 1, mRNA.	81	Sushi 1.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		TGAAATCGGGCTACAGAGCCT	0.512000														187			66		2.44918e-20	2.98923e-20	1	1	0
COX8A	1351	broad.mit.edu	37	11	63742167	63742167	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63742167G>T	uc001nye.3	+	0	89	c.15G>T	c.(13-15)acG>acT	p.T5T		NM_004074	NP_004065	P10176	COX8A_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIA (ubiquitous) (COX8A), mRNA.	5					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity										CCGTCCTGACGCCGCTGCTGC	0.642000														40			8		6.40141e-05	6.6609e-05	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43417778	43417778	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43417778G>A	uc003ouy.1	+	21	4643	c.4428G>A	c.(4426-4428)caG>caA	p.Q1476Q	ABCC10_uc003ouz.1_Silent_p.Q1448Q|ABCC10_uc010jyo.1_Silent_p.Q582Q	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1476	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Q1448H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGTTCCAGCAGCTGCTGCAGA	0.652000														206			14		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607055	46607055	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607055G>A	uc002ink.1	-	1	766	c.760C>T	c.(760-762)Cga>Tga	p.R254*	HOXB1_uc021tzf.1_3'UTR	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	254						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCATTCGTCGGTTCTGGAAC	0.602000														414			77		0	0	1	0	0
NSRP1	84081	broad.mit.edu	37	17	28512482	28512482	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28512482C>T	uc002heu.3	+	6	1495	c.1467C>T	c.(1465-1467)ccC>ccT	p.P489P	NSRP1_uc002hev.3_Silent_p.P435P|NSRP1_uc010wbl.2_Silent_p.P435P|NSRP1_uc010wbm.2_Silent_p.P435P|NSRP1_uc002hex.3_Silent_p.P435P	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	Homo sapiens nuclear speckle splicing regulatory protein 1 (NSRP1), transcript variant 1, mRNA.	489					developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						AAGAGAAACCCTCTAATTCTG	0.433000														92			25		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89807275	89807275	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89807275C>T	uc002fou.1	-	38	3808	c.3766_splice	c.e38-1	p.L1256_splice	ZNF276_uc010ciq.3_3'UTR|ZNF276_uc002foq.4_3'UTR|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_3'UTR|ZNF276_uc010cis.3_3'UTR|ZNF276_uc002fos.4_3'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_3'UTR|FANCA_uc010vpn.1_Splice_Site_p.L1256_splice|FANCA_uc010vpo.2_Splice_Site_p.L342_splice	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1256					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AAACCAATAGCTGTAAATAAA	0.378000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					41			4		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447226	226447226	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226447226G>A	uc002voe.2	+	3	1268	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.V135M	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	365	Pro-rich.																GAAGCTTCCCGTGCTGGAAAA	0.647000														71			11		0	0	1	0	0
DDX25	29118	broad.mit.edu	37	11	125788671	125788671	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125788671A>C	uc001qcz.4	+	9	1328	c.1187A>C	c.(1186-1188)aAt>aCt	p.N396T	DDX25_uc010sbk.2_Missense_Mutation_p.N396T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	396	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATAACAACTAATGTTTGTGCC	0.448000														22			6		0	0	1	0	0
COL17A1	1308	broad.mit.edu	37	10	105813871	105813871	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105813871G>A	uc001kxr.3	-	20	1919	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	COL17A1_uc010qqv.1_Nonsense_Mutation_p.R568*	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	584	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGAACCCTCGATCTCCTGCA	0.532000														23			5		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74491312	74491312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491312C>T	uc002sko.1	-	4	679	c.677G>A	c.(676-678)cGc>cAc	p.R226H	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R226H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R226H|SLC4A5_uc002skp.1_Missense_Mutation_p.R162H|SLC4A5_uc002sks.1_Missense_Mutation_p.R226H	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	226						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCTAAGGAGCGGTGGATGGG	0.592000														85			23		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734379	37734379	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734379G>T	uc002oft.1	+	7	1821	c.1241G>T	c.(1240-1242)aGa>aTa	p.R414I	ZNF383_uc002ofs.1_Missense_Mutation_p.R349I|ZNF383_uc002ofu.1_Missense_Mutation_p.R414I	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGCATCAGAGAATTCATACA	0.393000														74			12		2.27111e-07	2.44751e-07	1	1	0
SETD2	29072	broad.mit.edu	37	3	47164368	47164368	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47164368A>C	uc003cqv.3	-	2	1811	c.1725T>G	c.(1723-1725)caT>caG	p.H575Q	SETD2_uc003cqs.3_Missense_Mutation_p.H586Q	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AACTAAAAGAATGAGACTGTT	0.323000			"""N, F, S, Mis"""		clear cell renal carcinoma									58			13		0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382619	23382619	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23382619G>A	uc002dln.3	+	6	1057	c.881_splice	c.e6-1	p.G294_splice		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	294			G -> S (in BESC1; increased channel activity).		excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCTCCCCACAGGCCTGAAGTT	0.622000														60			19		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53668078	53668078	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53668078C>T	uc010eqm.1	-	3	1765	c.1665G>A	c.(1663-1665)tcG>tcA	p.S555S		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTGCAAGGTACGAATTGTGTC	0.388000														143			31		0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150497386	150497386	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150497386G>A	uc003ltl.2	-	18	1679	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	ANXA6_uc011dcp.2_Missense_Mutation_p.S452F|ANXA6_uc003lto.2_Missense_Mutation_p.S71F	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	484						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCTCCAGGGACTTGTGATA	0.577000														40			8		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31588402	31588402	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31588402C>T	uc002rnv.1	-	22	2544	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	822					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	p.G821V(1)		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)	TCGCACAGGGCGGCCGGTCCT	0.557000														189			50		0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54385226	54385226	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:54385226C>T	uc002lgk.1	+	12	1821	c.1610C>T	c.(1609-1611)gCc>gTc	p.A537V	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Missense_Mutation_p.A537V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	537										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCTCTGTAGCCAGTGACCAC	0.363000														147			30		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7013955	7013955	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7013955G>A	uc002knm.3	-	22	3316	c.3222C>T	c.(3220-3222)tgC>tgT	p.C1074C	LAMA1_uc010wzj.2_Silent_p.C550C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1074	Laminin EGF-like 12.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTGATCGCAGGCCCGGC	0.597000														51			11		0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147636794	147636794	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147636794C>A	uc003qlz.3	+	14	1721	c.1546C>A	c.(1546-1548)Ctg>Atg	p.L516M	STXBP5_uc010khz.2_Missense_Mutation_p.L516M|STXBP5_uc003qly.3_Missense_Mutation_p.L187M	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	516					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AAGTAGAATGCTGTGCATCGC	0.388000														129			28		2.4375e-19	2.95902e-19	1	1	0
DTL	51514	broad.mit.edu	37	1	212251574	212251574	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212251574T>G	uc009xdc.3	+	11	1409	c.1095T>G	c.(1093-1095)tcT>tcG	p.S365S	DTL_uc010ptb.2_Silent_p.S323S|DTL_uc001hiz.4_Silent_p.S94S	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	Homo sapiens denticleless homolog (Drosophila) (DTL), mRNA.	365					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|centrosome|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		AGGTCACGTCTGTGTGCTGGT	0.413000														119			26		0	0	1	0	0
SURF4	6836	broad.mit.edu	37	9	136231830	136231830	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136231830C>T	uc004cdj.3	-	4	559	c.429G>A	c.(427-429)gcG>gcA	p.A143A	SURF4_uc011mda.2_Silent_p.A134A|SURF4_uc010nal.3_Intron|SURF4_uc011mdd.2_Intron|SURF4_uc011mdb.2_Silent_p.A100A|SURF4_uc011mdc.2_Silent_p.A100A	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	143						ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGGGGACGCCCGCAAACATGC	0.577000														41			9		0	0	1	0	0
FAM75E1	286234	broad.mit.edu	37	9	90499930	90499930	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90499930G>A	uc004app.4	+	3	563	c.528G>A	c.(526-528)ccG>ccA	p.P176P	FAM75E1_uc004apo.1_Intron	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	176	Pro-rich.					integral to membrane											CCCACCAGCCGCATGGGAAAT	0.637000														177			60		0	0	1	0	0
OR10H3	26532	broad.mit.edu	37	19	15852477	15852477	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852477C>T	uc010xoq.2	+	0	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ACCCATCGTTCCATCACCTTT	0.502000														487			105		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37881332G>A	uc002hso.3	+	20	2762	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_uc010cwa.3_Missense_Mutation_p.V827I|ERBB2_uc002hsm.3_Missense_Mutation_p.V812I|ERBB2_uc002hsp.3_Missense_Mutation_p.V645I|ERBB2_uc010cwb.3_Missense_Mutation_p.V842I|ERBB2_uc010wek.2_Missense_Mutation_p.V566I|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	842	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V842I(12)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				97			22		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119916949	119916949	+	Missense_Mutation	SNP	G	A	A	rs144234053		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119916949G>A	uc001txe.3	+	3	857	c.392G>A	c.(391-393)cGc>cAc	p.R131H	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	131								p.R131H(6)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCACACGTCGCCCATTCACT	0.473000														77			15		0	0	1	0	0
RAPGEF5	9771	broad.mit.edu	37	7	22190035	22190035	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22190035G>A	uc003svg.3	-	17	1728	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	RAPGEF5_uc011jyl.1_Missense_Mutation_p.A153V	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	322	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAAAGTGTCCGCCAGGTCTTT	0.468000														121			23		0	0	1	0	0
PDXK	8566	broad.mit.edu	37	21	45173522	45173522	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45173522C>T	uc002zdm.4	+	8	879	c.681C>T	c.(679-681)gaC>gaT	p.D227D	PDXK_uc002zdn.4_Silent_p.D199D	NM_003681	NP_003672	O00764	PDXK_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) kinase (PDXK), mRNA.	227					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GCAAAGTGGACGCCGTCTTTG	0.607000														99			11		0	0	1	0	0
SLC19A1	6573	broad.mit.edu	37	21	46950795	46950795	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46950795G>A	uc002zhl.2	-	3	1193	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLC19A1_uc010gpy.1_Missense_Mutation_p.A347V|SLC19A1_uc011aft.2_Missense_Mutation_p.A307V|SLC19A1_uc002zhm.2_Missense_Mutation_p.A347V|SLC19A1_uc010gpz.2_Missense_Mutation_p.A226V	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	347					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)		GACCAGCCCCGCCTGCGTGGC	0.687000														37			15		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106554877	106554877	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106554877C>T	uc003prd.2	+	6	2228	c.1994C>T	c.(1993-1995)cCt>cTt	p.P665L	PRDM1_uc003pre.3_Missense_Mutation_p.P531L	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	665					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AAGGTGTGCCCTGCCAAGTTC	0.542000			"""D, N, Mis, F, S"""		DLBCL									274			57		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643433	94643433	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643433T>A	uc001dqj.4	-	20	3140	c.2771A>T	c.(2770-2772)aAg>aTg	p.K924M	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Missense_Mutation_p.K490M	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	924					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		AAATAGTGACTTCATGGAACG	0.323000														58			21		0	0	1	0	0
KPNA6	23633	broad.mit.edu	37	1	32620216	32620216	+	Missense_Mutation	SNP	A	G	G	rs141995585		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32620216A>G	uc010ogy.2	+	1	74	c.47A>G	c.(46-48)aAt>aGt	p.N16S	KPNA6_uc001bug.3_Missense_Mutation_p.N11S|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.N8S	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	11	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGGAAAGACAATTATCGAATG	0.448000														68			4		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13700841	13700841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:13700841C>T	uc003jfd.2	-	77	13673	c.13631G>A	c.(13630-13632)gGc>gAc	p.G4544D	DNAH5_uc003jfc.2_Missense_Mutation_p.G712D	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTGTCCCAGCCAGCACCTTC	0.428000									Kartagener syndrome					230			40		0	0	1	0	0
ACTL7A	10881	broad.mit.edu	37	9	111625138	111625138	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111625138A>C	uc004bdj.1	+	0	536	c.536A>C	c.(535-537)aAc>aCc	p.N179T		NM_006687	NP_006678	Q9Y615	ACL7A_HUMAN	Homo sapiens actin-like 7A (ACTL7A), mRNA.	179						cytoplasm|cytoskeleton|protein complex	structural constituent of cytoskeleton			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCACACACCAACAGAGAGAAA	0.532000														137			26		0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12264367	12264367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12264367C>T	uc002kqt.4	+	2	310	c.245C>T	c.(244-246)aCc>aTc	p.T82I	CIDEA_uc002kqu.4_Missense_Mutation_p.T116I|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	82	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						GAAGATGGCACCGTGGTGGAC	0.507000														100			17		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038624	131038624	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131038624A>C	uc004bup.3	+	0	200	c.200A>C	c.(199-201)gAc>gCc	p.D67A	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.D67A	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	67					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CCCGCGCTGGACCCTCTTGCG	0.657000														46			8		0	0	1	0	0
PATL1	219988	broad.mit.edu	37	11	59425059	59425059	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59425059C>A	uc001noe.4	-	4	708	c.565G>T	c.(565-567)Gct>Tct	p.A189S	PATL1_uc009yms.1_Missense_Mutation_p.A189S|PATL1_uc010rkw.2_Intron	NM_152716	NP_689929	Q86TB9	PATL1_HUMAN	Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA.	189	Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	RNA binding|protein binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						ATGGGGACAGCTCTAACAGGA	0.532000														166			7		2.0095e-06	2.13635e-06	1	1	0
CDX4	1046	broad.mit.edu	37	X	72667226	72667226	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:72667226C>T	uc011mqk.2	+	0	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	46						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AATTTCGCTGCGGCACCGGCT	0.647000														90			11		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47373547	47373547	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47373547G>A	uc002leb.2	-	32	4716	c.4428C>T	c.(4426-4428)gaC>gaT	p.D1476D	MYO5B_uc002ldz.3_Silent_p.D46D|MYO5B_uc002lea.2_Silent_p.D591D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1476					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGAGGGCCTCGTCCTCTTTGT	0.612000														145			14		0	0	1	0	0
DOLK	22845	broad.mit.edu	37	9	131708616	131708616	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131708616A>G	uc004bwr.3	-	0	1397	c.967T>C	c.(967-969)Tca>Cca	p.S323P	NUP188_uc004bws.1_5'Flank|NUP188_uc004bwq.1_Intron	NM_014908	NP_055723	Q9UPQ8	DOLK_HUMAN	Homo sapiens dolichol kinase (DOLK), mRNA.	323					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						TCGGAAGATGACCGCTTGGCA	0.557000														345			90		0	0	1	0	0
CYTL1	54360	broad.mit.edu	37	4	5016925	5016925	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5016925C>A	uc003gig.3	-	3	389	c.364G>T	c.(364-366)Gaa>Taa	p.E122*		NM_018659	NP_061129	Q9NRR1	CYTL1_HUMAN	Homo sapiens cytokine-like 1 (CYTL1), mRNA.	122					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		ATTGGGTATTCCAAGGCATTG	0.478000														52			12		0.00010058	0.000104357	1	1	0
NR2C2	7182	broad.mit.edu	37	3	15070094	15070094	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15070094C>A	uc003bzj.4	+	8	1016	c.799_splice	c.e8-1	p.A267_splice	NR2C2_uc003bzi.3_Splice_Site_p.A286_splice	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	267					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTTAATAGGCTGAAACAAGC	0.423000														44			5		0.000602214	0.000618135	1	1	0
CC2D1B	200014	broad.mit.edu	37	1	52824952	52824952	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824952C>T	uc001ctq.2	-	9	1247	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	CC2D1B_uc001ctr.3_5'Flank|CC2D1B_uc001cts.3_Missense_Mutation_p.V57M	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	366										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGGGCCATCACTGGCTGCACT	0.652000														92			30		0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055047	9055047	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9055047G>A	uc003brf.1	-	16	2768	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	SRGAP3_uc003brg.1_Missense_Mutation_p.R674W	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	698					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)		TCTAGCTCCCGGGGGCTGGGG	0.473000			T	RAF1	pilocytic astrocytoma									86			16		0	0	1	0	0
VPS4B	9525	broad.mit.edu	37	18	61058275	61058275	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61058275G>T	uc002lix.3	-	10	1528	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H		NM_004869	NP_004860	O75351	VPS4B_HUMAN	Homo sapiens vacuolar protein sorting 4 homolog B (S. cerevisiae) (VPS4B), mRNA.	423					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						ATTGACTGTAGGTTTTGTGTT	0.353000														45			11		3.86212e-05	4.026e-05	1	1	0
ZNF37A	7587	broad.mit.edu	37	10	38407455	38407455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38407455G>A	uc001izk.3	+	7	2206	c.1376G>A	c.(1375-1377)aGa>aAa	p.R459K	ZNF37A_uc001izl.3_Missense_Mutation_p.R459K|ZNF37A_uc001izm.3_Missense_Mutation_p.R459K	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	459						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L458L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						GAACATCTGAGAAGACACACA	0.403000														76			19		0	0	1	0	0
USP14	9097	broad.mit.edu	37	18	197615	197615	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:197615G>T	uc002kkf.1	+	8	811	c.595_splice	c.e8-1	p.D199_splice	USP14_uc002kkg.1_Splice_Site_p.D164_splice|USP14_uc010wyr.1_Splice_Site_p.D188_splice	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	199					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACATTACAGGATGCTAATG	0.338000														50			9		1.12685e-05	1.18529e-05	1	1	0
MAU2	23383	broad.mit.edu	37	19	19465197	19465197	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19465197C>T	uc002nmk.4	+	16	1621	c.1582C>T	c.(1582-1584)Ctc>Ttc	p.L528F	MAU2_uc002nml.4_Missense_Mutation_p.L133F|MAU2_uc010ecd.3_Missense_Mutation_p.L133F|MAU2_uc010ece.3_Missense_Mutation_p.L104F	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	528					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TGCCATGCAGCTCGCCAGCAA	0.622000														88			14		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47193447	47193447	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47193447G>A	uc003bib.3	+	3	733	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TBC1D22A_uc010haf.3_Silent_p.A159A|TBC1D22A_uc003bie.3_Intron|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.A142A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	189						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GCAGCTCAGCGCTGAGCGAAA	0.647000											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			27		0	0	1	0	0
KLF10	7071	broad.mit.edu	37	8	103663511	103663511	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103663511A>C	uc011lhk.1	-	2	1203	c.1049T>G	c.(1048-1050)tTt>tGt	p.F350C	KLF10_uc011lhj.1_Missense_Mutation_p.F339C	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	350					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAAGGGGAAAACCCAGGAGC	0.517000														157			34		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145620531	145620531	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145620531G>A	uc003zcj.3	-	27	3211	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1046					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGTGGGATGCGGGCACACGGC	0.627000														72			14		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497300	52497300	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497300A>C	uc002pyf.2	-	6	1379	c.1062T>G	c.(1060-1062)ccT>ccG	p.P354P	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.P343P|ZNF615_uc002pyh.2_Silent_p.P354P|ZNF615_uc010epi.2_Silent_p.P350P|ZNF615_uc002pyg.2_Silent_p.P235P|ZNF615_uc010ydg.2_Silent_p.P348P	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TACATATATAAGGTTTTTCTC	0.403000														139			21		0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184090519	184090519	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184090519C>T	uc003fol.1	-	5	1059	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	THPO_uc003fom.2_Missense_Mutation_p.G278S|THPO_uc021xii.1_Missense_Mutation_p.R276K|THPO_uc003fon.3_Missense_Mutation_p.R243K|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Missense_Mutation_p.R239K|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Missense_Mutation_p.R203K	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	282					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCAGGGAGCCTGTGTCTGAT	0.567000														309			75		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806342	22806342	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22806342A>C	uc002kvk.2	-	3	1787	c.1540T>G	c.(1540-1542)Ttt>Gtt	p.F514V	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.F514V|ZNF521_uc002kvl.2_Missense_Mutation_p.F294V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	514					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGGACAAAAGAATGCATTA	0.463000			T	PAX5	ALL									108			30		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774452	14774452	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774452C>A	uc021ved.1	+	0	349	c.349C>A	c.(349-351)Cca>Aca	p.P117T	FAM84A_uc002rbz.2_Missense_Mutation_p.P117T|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	117										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CACCGCGCTGCCAGCGCTCTG	0.706000														42			12		0.010729	0.0108564	1	1	0
SERTAD3	29946	broad.mit.edu	37	19	40947463	40947463	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40947463G>T	uc002onu.4	-	1	803	c.525C>A	c.(523-525)ttC>ttA	p.F175L	SERTAD3_uc002onv.4_Missense_Mutation_p.F175L|SERTAD3_uc021uut.1_Missense_Mutation_p.F175L	NM_013368	NP_976219	Q9UJW9	SRTD3_HUMAN	Homo sapiens SERTA domain containing 3 (SERTAD3), transcript variant 1, mRNA.	175					negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGGGCACAGAAGAGGTTGT	0.527000														219			36		8.73648e-17	1.04385e-16	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167097360	167097360	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097360G>A	uc001geb.1	+	4	3008	c.2992G>A	c.(2992-2994)Ggc>Agc	p.G998S		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	998	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGAGGCAAATGGCAACTCTGT	0.517000														145			21		0	0	1	0	0
RELA	5970	broad.mit.edu	37	11	65423197	65423197	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65423197G>T	uc010ron.2	-	9	1168	c.1028C>A	c.(1027-1029)gCt>gAt	p.A343D	RELA_uc001off.3_Missense_Mutation_p.A332D|RELA_uc001ofh.3_Missense_Mutation_p.A329D|RELA_uc001ofg.3_Missense_Mutation_p.A332D|RELA_uc021qlq.1_Missense_Mutation_p.A332D|RELA_uc009yqr.3_Missense_Mutation_p.A279D|RELA_uc001ofe.2_Missense_Mutation_p.A332D|RELA_uc009yqs.1_Non-coding_Transcript	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	332					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGAAGGCACAGCAATGCGTCG	0.622000														109			28		5.90632e-09	6.51854e-09	1	1	0
VCX3B	425054	broad.mit.edu	37	X	8434386	8434386	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:8434386A>G	uc011mht.2	+	2	1010	c.703A>G	c.(703-705)Agt>Ggt	p.S235G	VCX3B_uc022bsj.1_Non-coding_Transcript	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	81						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAACCACTGAGTCAGGAGAG	0.567000														346			94		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429469	4429469	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4429469G>A	uc002mal.3	+	8	1739	c.1639G>A	c.(1639-1641)Ggt>Agt	p.G547S		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	547					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGGCGACGGTGTTCCCGA	0.572000								Chromatin Structure						141			27		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37035781	37035781	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37035781G>T	uc002rpl.3	+	14	1858	c.1556G>T	c.(1555-1557)aGc>aTc	p.S519I	VIT_uc002rpm.3_Missense_Mutation_p.S504I|VIT_uc010ezv.3_Missense_Mutation_p.S482I|VIT_uc010ezw.3_Missense_Mutation_p.S483I	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	504	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GACGGCTCCAGCAGTGTGGGG	0.612000														167			49		9.82405e-12	1.12389e-11	1	1	0
LRRK2	120892	broad.mit.edu	37	12	40704345	40704345	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40704345G>A	uc001rmg.4	+	30	4551	c.4430G>A	c.(4429-4431)cGa>cAa	p.R1477Q	LRRK2_uc009zjw.3_Missense_Mutation_p.R315Q|LRRK2_uc001rmi.3_Missense_Mutation_p.R310Q	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1477	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTGAATAAGCGAGGGTTCCCT	0.453000														248			45		0	0	1	0	0
DCAF15	90379	broad.mit.edu	37	19	14071137	14071137	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14071137A>G	uc002mxt.3	+	10	1571	c.1565A>G	c.(1564-1566)gAc>gGc	p.D522G	DCAF15_uc002mxu.3_Non-coding_Transcript	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	522										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						GTGGCATGGGACCTCAACACA	0.617000											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			27		0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365196	26365196	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26365196T>G	uc022atc.1	-	0	1076	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	PNMA2_uc003xez.2_Missense_Mutation_p.N359T	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	359					apoptosis	nucleolus	protein binding	p.W358C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		TCCCTCATGATTCCAGCGGCC	0.478000														234			45		0	0	1	0	0
MRPS11	64963	broad.mit.edu	37	15	89018411	89018411	+	Missense_Mutation	SNP	C	T	T	rs149047976		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89018411C>T	uc002bml.3	+	3	617	c.352C>T	c.(352-354)Cgg>Tgg	p.R118W	MRPS11_uc002bmm.3_Missense_Mutation_p.R85W|MRPS11_uc002bmn.3_Missense_Mutation_p.R117W|MRPS11_uc010bnj.3_Non-coding_Transcript	NM_022839	NP_073750	P82912	RT11_HUMAN	Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	118					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	p.R118W(2)|p.R118Q(1)		large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGAGGGATTTCGGAATGCCAA	0.517000														120			27		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44579904	44579904	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44579904C>T	uc003tlb.3	-	1	148	c.92G>A	c.(91-93)gGc>gAc	p.G31D	NPC1L1_uc011kbw.2_Missense_Mutation_p.G31D|NPC1L1_uc003tlc.3_Missense_Mutation_p.G31D|NPC1L1_uc003tld.3_Missense_Mutation_p.G31D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	31					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)	GGCGCAGTAGCCAGGCTGGTG	0.612000														108			24		0	0	1	0	0
C16orf55	124045	broad.mit.edu	37	16	89735829	89735829	+	Missense_Mutation	SNP	C	T	T	rs151036541		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735829C>T	uc010vpk.1	+	2	421	c.347C>T	c.(346-348)cCg>cTg	p.P116L	C16orf55_uc002fnw.1_Missense_Mutation_p.P115L|C16orf55_uc002fny.2_Non-coding_Transcript	NM_153025	NP_694570	Q96N06	CP055_HUMAN	Homo sapiens chromosome 16 open reading frame 55 (C16orf55), mRNA.	115										cervix(1)|kidney(1)	2		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		ATTCGGGAGCCGGAGGACTGG	0.552000														178			48		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91766410	91766410	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91766410C>T	uc010aty.3	-	20	3794	c.3640G>A	c.(3640-3642)Ggt>Agt	p.G1214S		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1214					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				AGCATGTCACCGTGCCTGTTG	0.617000														32			7		0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063599	3063599	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3063599C>T	uc010uwo.1	+	0	1143	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	79					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GACCTGCAGGCCGCACGTGCC	0.647000														167			53		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50149333	50149333	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50149333G>A	uc021vhh.1	-	20	5104	c.4183C>T	c.(4183-4185)Cgg>Tgg	p.R1395W	NRXN1_uc010fbp.3_Missense_Mutation_p.R360W|NRXN1_uc002rxb.4_Missense_Mutation_p.R1094W|NRXN1_uc021vhg.1_Missense_Mutation_p.R1465W|NRXN1_uc021vhi.1_Missense_Mutation_p.R1461W|NRXN1_uc021vhj.1_Missense_Mutation_p.R1391W|NRXN1_uc002rxa.4_Missense_Mutation_p.R57W|NRXN1_uc010yon.2_Missense_Mutation_p.R60W	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1395					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGGACTCCCGGATCACTTCT	0.537000														129			21		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41000309	41000309	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41000309A>G	uc004dfb.3	+	7	1494	c.861A>G	c.(859-861)gaA>gaG	p.E287E	USP9X_uc004dfc.3_Silent_p.E287E	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	287					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGTTTTTAGAAAACTTAACTG	0.318000														19			7		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354846	77354846	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77354846C>A	uc004ajl.1	-	33	5518	c.5280G>T	c.(5278-5280)caG>caT	p.Q1760H	TRPM6_uc004ajk.1_Missense_Mutation_p.Q1755H|TRPM6_uc022bib.1_Missense_Mutation_p.Q1755H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.Q711H|TRPM6_uc010mpd.1_Missense_Mutation_p.Q593H|TRPM6_uc010mpe.1_Missense_Mutation_p.Q307H|TRPM6_uc004ajj.1_Missense_Mutation_p.Q716H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1760	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTCTCCCACGCTGAGACCAAG	0.502000														111			23		1.10513e-12	1.27896e-12	1	1	0
AP3B1	8546	broad.mit.edu	37	5	77311268	77311268	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77311268C>A	uc003kfj.3	-	25	3222	c.3097G>T	c.(3097-3099)Ggt>Tgt	p.G1033C		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	1033					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GGGACTGCACCTACATTGGCT	0.388000									Hermansky-Pudlak syndrome					123			21		1.01871e-10	1.15017e-10	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57722984	57722984	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57722984G>T	uc002qob.3	+	3	933	c.519G>T	c.(517-519)caG>caT	p.Q173H		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		GGATTGGACAGGAGCAAGTCT	0.468000														72			23		7.33628e-21	8.97863e-21	1	1	0
SNAP47	116841	broad.mit.edu	37	1	227954674	227954674	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227954674G>A	uc001hrf.2	+	3	1552	c.1138G>A	c.(1138-1140)Ggc>Agc	p.G380S	SNAP47_uc001hra.2_Missense_Mutation_p.G138S|SNAP47_uc001hrd.3_Missense_Mutation_p.G380S|SNAP47_uc001hre.3_Missense_Mutation_p.G138S	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	380						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGGCTGATGGGCCGTACCCT	0.607000														82			32		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145155993	145155993	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145155993G>A	uc002tvu.3	-	7	3283	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	ZEB2_uc010zbm.2_Nonsense_Mutation_p.R897*|ZEB2_uc002tvv.3_Nonsense_Mutation_p.R915*|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Nonsense_Mutation_p.R950*	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	921						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGTATGGTCGTAGCCCAGGA	0.498000														219			21		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83742226	83742226	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83742226A>G	uc003hnh.3	-	25	3627	c.3447T>C	c.(3445-3447)cgT>cgC	p.R1149R	SEC31A_uc003hnd.3_Silent_p.R318R|SEC31A_uc003hne.3_Silent_p.R898R|SEC31A_uc011ccl.2_Silent_p.R1095R|SEC31A_uc003hnl.3_Silent_p.R996R|SEC31A_uc003hng.3_Silent_p.R1134R|SEC31A_uc011ccm.2_Silent_p.R1129R|SEC31A_uc003hni.3_Silent_p.R1035R|SEC31A_uc003hnk.3_Silent_p.R1110R|SEC31A_uc003hnf.3_Silent_p.R1149R|SEC31A_uc011ccn.2_Silent_p.R1134R|SEC31A_uc003hnm.3_Silent_p.R1149R	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1149					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAACTCCAAACGTTTGCTGG	0.338000														177			35		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140728842	140728842	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140728842C>T	uc011mfc.2	+	25	3619	c.3582C>T	c.(3580-3582)aaC>aaT	p.N1194N	EHMT1_uc004coe.3_Silent_p.N99N	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1194	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TCTACGGGAACGTCAGCCGGT	0.667000														126			31		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173378900	173378900	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173378900A>C	uc003mcs.4	+	7	3145	c.1739A>C	c.(1738-1740)aAa>aCa	p.K580T	CPEB4_uc010jju.2_Missense_Mutation_p.K555T|CPEB4_uc010jjv.3_Missense_Mutation_p.K563T|CPEB4_uc011dfg.2_Missense_Mutation_p.K555T|CPEB4_uc003mcu.4_Missense_Mutation_p.K173T|CPEB4_uc021yhy.1_Missense_Mutation_p.K146T	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	580	RRM 2.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GACCCACGAAAAACTATATTT	0.428000														75			6		0	0	1	0	0
SGCE	8910	broad.mit.edu	37	7	94228093	94228093	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94228093G>A	uc011kid.1	-	9	1466	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	SGCE_uc003unm.2_Missense_Mutation_p.T416M|SGCE_uc003unl.2_Missense_Mutation_p.T416M|SGCE_uc003unn.2_Missense_Mutation_p.T407M|SGCE_uc011kic.1_Missense_Mutation_p.T375M	NM_003919	NP_003910	O43556	SGCE_HUMAN	Homo sapiens sarcoglycan, epsilon (SGCE), transcript variant 2, mRNA.	416					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTACTGCTGCGTTTGCATCAA	0.398000														145			34		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1624783	1624783	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1624783C>T	uc003wpl.3	+	8	2145	c.2048_splice	c.e8+1	p.R683_splice	DLGAP2_uc003wpm.3_Splice_Site_p.R669_splice	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	762					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGATGAGAAGCGGTAACTCAG	0.582000														24			6		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74324894	74324894	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74324894C>A	uc010wtb.1	-	6	597	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W	PRPSAP1_uc010wta.1_Missense_Mutation_p.G229W	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	200					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						TGAGCTTCCCCGTGAATGACG	0.547000														67			17		1.15088e-07	1.24477e-07	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111603011	111603011	+	Silent	SNP	C	T	T	rs147548065	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603011C>T	uc010hqa.3	+	1	498	c.87C>T	c.(85-87)aaC>aaT	p.N29N	PHLDB2_uc003dyc.3_Silent_p.N56N|PHLDB2_uc003dyd.3_Silent_p.N29N|PHLDB2_uc003dyg.3_Silent_p.N29N|PHLDB2_uc003dyh.3_Silent_p.N29N|PHLDB2_uc003dye.4_Silent_p.N29N|PHLDB2_uc003dyf.4_Silent_p.N29N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	29						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CTGTTGAGAACGATTCCCAAA	0.413000														185			39		0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195410661	195410661	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195410661G>T	uc003fuw.3	+	12	1752	c.558G>T	c.(556-558)caG>caT	p.Q186H	SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		AGCCCATCCAGGGGCAACAGA	0.502000														15			5		0.217242	0.217542	1	1	0
ENTPD6	955	broad.mit.edu	37	20	25205907	25205907	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205907G>T	uc002wuj.2	+	13	1490	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	ENTPD6_uc002wum.2_Missense_Mutation_p.S420I|ENTPD6_uc010zta.1_Missense_Mutation_p.Q451H|ENTPD6_uc002wuk.2_Missense_Mutation_p.S436I|ENTPD6_uc002wul.2_Missense_Mutation_p.Q450H|ENTPD6_uc010ztb.1_Missense_Mutation_p.Q423H|ENTPD6_uc010ztc.1_Missense_Mutation_p.S409I|ENTPD6_uc002wuo.2_Missense_Mutation_p.S189I|ENTPD6_uc010zsz.1_Missense_Mutation_p.S219I|ENTPD6_uc010ztd.1_Missense_Mutation_p.S185I|ENTPD6_uc010gdl.1_Non-coding_Transcript|ENTPD6_uc010gdk.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	437						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.V436G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						ACCTACGTCAGCCTGCTACTC	0.607000														61			8		5.18039e-06	5.47662e-06	1	1	0
BAIAP2	10458	broad.mit.edu	37	17	79077823	79077823	+	Silent	SNP	G	A	A	rs148408272	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79077823G>A	uc002jzg.2	+	8	1089	c.981G>A	c.(979-981)ccG>ccA	p.P327P	BAIAP2_uc002jyz.4_Silent_p.P327P|BAIAP2_uc002jza.2_Silent_p.P327P|BAIAP2_uc002jzc.2_Silent_p.P327P|BAIAP2_uc002jzb.2_Silent_p.P84P|BAIAP2_uc010wuh.1_Silent_p.P249P|BAIAP2_uc002jzd.2_Silent_p.P327P|BAIAP2_uc002jzf.2_Silent_p.P327P|BAIAP2_uc002jze.2_Silent_p.P360P|BAIAP2_uc002jzh.2_Silent_p.P328P|BAIAP2_uc010wui.2_Silent_p.P190P	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	327					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TGTCTCCTCCGCAGTCTCAGA	0.617000														171			38		0	0	1	0	0
PLCD4	84812	broad.mit.edu	37	2	219497008	219497008	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219497008G>A	uc021vwx.1	+	9	1761	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	PLCD4_uc010zkk.1_Intron	NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	474					intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCCAGGAGCAGAACCTTCAGA	0.478000														14			11		0	0	1	0	0
ZMYND11	10771	broad.mit.edu	37	10	294415	294415	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:294415A>G	uc010pzu.2	+	12	1708	c.1367A>G	c.(1366-1368)cAg>cGg	p.Q456R	ZMYND11_uc001ifk.3_Missense_Mutation_p.Q455R|ZMYND11_uc010pzv.2_Missense_Mutation_p.Q401R|ZMYND11_uc010pzw.2_Missense_Mutation_p.Q371R|ZMYND11_uc001ifm.3_Missense_Mutation_p.Q402R|ZMYND11_uc010pzx.2_Missense_Mutation_p.Q456R|ZMYND11_uc001ifn.3_Missense_Mutation_p.Q402R|ZMYND11_uc009xhg.3_Missense_Mutation_p.Q439R|ZMYND11_uc010pzy.2_Missense_Mutation_p.Q308R|ZMYND11_uc009xhh.3_Missense_Mutation_p.Q330R	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA.	416	Interaction with human adenovirus E1A.				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGGAGCACCCAGACCACAAAC	0.502000														131			26		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23321797	23321797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23321797G>A	uc001irm.4	+	17	2337	c.2254G>A	c.(2254-2256)Gca>Aca	p.A752T	ARMC3_uc010qcv.2_Missense_Mutation_p.A745T|ARMC3_uc010qcw.2_Missense_Mutation_p.A489T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	752							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAGGTATGTAGCAGAAAAAAT	0.318000														33			6		0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162307033	162307033	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:162307033C>T	uc003iqh.3	-	15	2846	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	FSTL5_uc003iqi.3_Missense_Mutation_p.G803S|FSTL5_uc010iqv.3_Missense_Mutation_p.G794S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	804						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCAAACAAGCCACTGTCCTGG	0.443000														181			45		0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591075	55591075	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55591075C>A	uc002qis.4	+	4	239	c.135C>A	c.(133-135)tgC>tgA	p.C45*	EPS8L1_uc010ess.1_Nonsense_Mutation_p.C27*|EPS8L1_uc010est.1_Nonsense_Mutation_p.C45*|EPS8L1_uc010yfr.2_5'UTR|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank|EPS8L1_uc002qiv.3_5'Flank|EPS8L1_uc002qiw.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	45						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGACGTTCTGCCTGGGTGAGG	0.587000														82			13		5.50884e-06	5.8131e-06	1	1	0
OR4S2	219431	broad.mit.edu	37	11	55418546	55418546	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55418546C>T	uc001nhs.1	+	0	167	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTAAGTCACCCATGTATTTC	0.393000														197			26		0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94711935	94711935	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94711935T>A	uc001ycs.1	+	12	1510	c.1356T>A	c.(1354-1356)gcT>gcA	p.A452A		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	452						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TACTAGATGCTCTTATAGATC	0.313000														72			13		0	0	1	0	0
GNAI3	2773	broad.mit.edu	37	1	110116530	110116530	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110116530G>A	uc001dxz.2	+	2	331	c.174G>A	c.(172-174)gaG>gaA	p.E58E		NM_006496	NP_006487	P08754	GNAI3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 (GNAI3), mRNA.	58					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		TCATTCATGAGGATGGCTATT	0.348000														52			15		0	0	1	0	0
GP9	2815	broad.mit.edu	37	3	128780912	128780912	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128780912G>T	uc003elm.2	+	2	517	c.330G>T	c.(328-330)caG>caT	p.Q110H	GP9_uc021xdn.1_Missense_Mutation_p.Q110H	NM_000174	NP_000165	P14770	GPIX_HUMAN	Homo sapiens glycoprotein IX (platelet) (GP9), mRNA.	110	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	CCCTGCTGCAGGTCCGCTGTG	0.701000														98			14		4.36969e-10	4.89342e-10	1	1	0
TNRC18	84629	broad.mit.edu	37	7	5427457	5427457	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5427457G>A	uc003soi.4	-	4	2347	c.1998C>T	c.(1996-1998)cgC>cgT	p.R666R	TNRC18_uc010ksx.1_Silent_p.R592R	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	666							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CAGAGCCCTCGCGCCCGAAAG	0.731000														64			24		0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091357	11091357	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:11091357G>A	uc010shi.2	-	0	450	c.450C>T	c.(448-450)atC>atT	p.I150I	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	150					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CATTTATATGGATGTTTATCA	0.353000														90			17		0	0	1	0	0
SHROOM4	57477	broad.mit.edu	37	X	50376791	50376791	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:50376791G>T	uc004dpe.2	-	3	2308	c.2282C>A	c.(2281-2283)gCt>gAt	p.A761D	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.A645D	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	761					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATCCTCCCCAGCTTGAGCAGT	0.478000														104			32		1.80694e-10	2.03462e-10	1	1	0
PLIN5	440503	broad.mit.edu	37	19	4523771	4523771	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4523771C>A	uc002mas.3	-	7	1214	c.1161G>T	c.(1159-1161)gaG>gaT	p.E387D		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	387						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGGCAGGGGCTCGGGTCGCT	0.741000														176			48		3.05275e-18	3.6841e-18	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47075176	47075176	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47075176G>A	uc002iom.3	+	0	403	c.69G>A	c.(67-69)gcG>gcA	p.A23A	IGF2BP1_uc010dbj.3_Silent_p.A23A	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	23	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGTGTTTGCGGAGCACAAGA	0.602000														208			55		0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137329757	137329757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137329757G>A	uc003qhj.3	-	4	1136	c.703C>T	c.(703-705)Cag>Tag	p.Q235*	IL20RA_uc011edl.2_Nonsense_Mutation_p.Q186*|IL20RA_uc003qhk.3_Nonsense_Mutation_p.Q124*|IL20RA_uc003qhi.3_5'UTR	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	235	Fibronectin type-III 2.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGGCACACTGCTTCTCAGAA	0.517000														206			53		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163662	96163662	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163662C>T	uc003hto.3	-	6	1379	c.1026G>A	c.(1024-1026)gcG>gcA	p.A342A	UNC5C_uc010ilc.2_Silent_p.A342A|UNC5C_uc003htq.3_Silent_p.A342A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	342	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TGGGGGCTGGCGCCGTGCACT	0.557000														50			8		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141591969	141591969	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141591969G>T	uc010ioj.3	-	6	1443	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	391						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTCTGCACTAGAAAGTCTCTA	0.453000														160			28		7.41945e-09	8.17068e-09	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38793718	38793718	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38793718C>T	uc003ciq.3	-	10	1747	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	583					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCGAGACATCGACAGCTCCA	0.552000														168			31		0	0	1	0	0
MCMBP	79892	broad.mit.edu	37	10	121618597	121618597	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121618597A>C	uc001ler.2	-	2	539	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	MCMBP_uc001les.1_5'UTR|MCMBP_uc021pzr.1_5'Flank	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN	Homo sapiens minichromosome maintenance complex binding protein (MCMBP), transcript variant 1, mRNA.	81					DNA-dependent DNA replication|S phase of mitotic cell cycle|cell division|mitosis|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						ACTCCCATGTAAAACTCAGGG	0.343000														54			9		0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26437387	26437387	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26437387C>A	uc002rgy.3	-	8	973	c.843G>T	c.(841-843)caG>caT	p.Q281H	HADHA_uc010yks.2_Missense_Mutation_p.Q194H|HADHA_uc010ykt.1_Missense_Mutation_p.Q194H	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	281					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTTGTAAACCTGTTGCCTGA	0.363000														73			29		1.5548e-18	1.87917e-18	1	1	0
DCUN1D3	123879	broad.mit.edu	37	16	20871273	20871273	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20871273C>T	uc002dhz.3	-	2	991	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	284					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		CCTTCCCCTTCTCTTTTCCTT	0.567000														89			8		0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771268	157771268	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157771268C>T	uc001frg.3	-	5	1099	c.986G>A	c.(985-987)gGc>gAc	p.G329D	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.G329D|FCRL1_uc001fri.3_Intron|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	329						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCTTTTGAGGCCGTAGCAAAA	0.443000														126			25		0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	677877	677877	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:677877C>T	uc002lpk.1	+	1	224	c.189C>T	c.(187-189)gcC>gcT	p.A63A	FSTL3_uc010drt.1_5'Flank	NM_005860	NP_005851	O95633	FSTL3_HUMAN	Homo sapiens follistatin-like 3 (secreted glycoprotein) (FSTL3), mRNA.	63	TB.				hemopoietic progenitor cell differentiation|negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGCTGTGCCTCCGGCAACA	0.647000			T	CCND1	B-CLL									172			41		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417218	150417218	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150417218C>A	uc003whq.3	+	2	266	c.126C>A	c.(124-126)gcC>gcA	p.A42A	GIMAP1-GIMAP5_uc022apw.1_Silent_p.A42A	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GGAAGAGCGCCACTGGGAACA	0.627000														264			62		2.69953e-25	3.3639e-25	1	1	0
TGM6	343641	broad.mit.edu	37	20	2384147	2384147	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2384147G>T	uc002wfy.1	+	8	1154	c.1093_splice	c.e8+1	p.G365_splice	TGM6_uc010gal.1_Splice_Site_p.G365_splice	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	365					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGTGAAGGTACGCTCAAT	0.602000														206			50		1.0096e-33	1.27598e-33	1	1	0
SASH1	23328	broad.mit.edu	37	6	148852764	148852764	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852764C>A	uc003qme.1	+	12	2006	c.1531C>A	c.(1531-1533)Ctt>Att	p.L511I	SASH1_uc011eeb.1_Missense_Mutation_p.L272I|SASH1_uc003qmf.1_Intron	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	511							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGTAGAAAGTCTTCGCAGTTC	0.512000														94			6		0.00198382	0.00202356	1	1	0
RARRES3	5920	broad.mit.edu	37	11	63312164	63312164	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63312164C>T	uc001nxf.4	+	2	258	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	64					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	p.R64H(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GAAACGGGAGCGCCTGGAAGA	0.582000														289			35		0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52354937	52354937	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52354937G>T	uc003pap.4	+	10	1856	c.1641_splice	c.e10-1	p.S547_splice	EFHC1_uc011dwv.1_Splice_Site_p.S456_splice|EFHC1_uc011dww.2_Splice_Site_p.S528_splice	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 1 (EFHC1), transcript variant A, mRNA.	547						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTTCTCTACAGCAAGCAAACT	0.403000														57			12		3.07112e-06	3.25591e-06	1	1	0
C15orf42	90381	broad.mit.edu	37	15	90167585	90167585	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167585C>T	uc002boe.3	+	19	4044	c.4044C>T	c.(4042-4044)agC>agT	p.S1348S	C15orf42_uc021sug.1_Silent_p.S1347S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1348	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTCACCCAGCGTAGCTGCAT	0.507000														235			64		0	0	1	0	0
FANCC	2176	broad.mit.edu	37	9	97879632	97879632	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97879632G>A	uc022bkl.1	-	10	1241	c.1037C>T	c.(1036-1038)cCa>cTa	p.P346L	FANCC_uc004avh.3_Missense_Mutation_p.P346L|FANCC_uc004avi.4_Missense_Mutation_p.P346L	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	346					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GGCAAGAGATGGAGAAGTGTA	0.458000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					42			9		0	0	1	0	0
SERTAD4	56256	broad.mit.edu	37	1	210415325	210415325	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415325G>A	uc001hhy.3	+	3	893	c.714G>A	c.(712-714)ccG>ccA	p.P238P	SERTAD4_uc009xcw.3_Silent_p.P238P	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	238	Ser-rich.						protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TGCCTTTACCGAGTTGTTCCC	0.488000														112			27		0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	53018198	53018198	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:53018198G>T	uc002lga.3	-	7	772	c.712C>A	c.(712-714)Cca>Aca	p.P238T	TCF4_uc010xdu.1_Missense_Mutation_p.P6T|TCF4_uc010xdv.1_Missense_Mutation_p.P6T|TCF4_uc021uki.1_Missense_Mutation_p.P65T|TCF4_uc002lfx.2_Missense_Mutation_p.P65T|TCF4_uc010xdw.1_Missense_Mutation_p.P6T|TCF4_uc002lfy.2_Missense_Mutation_p.P94T|TCF4_uc010xdx.1_Missense_Mutation_p.P112T|TCF4_uc021ukj.1_Intron|TCF4_uc021ukk.1_Intron|TCF4_uc021ukl.1_Missense_Mutation_p.P134T|TCF4_uc002lfz.2_Missense_Mutation_p.P136T|TCF4_uc010dph.1_Missense_Mutation_p.P136T|TCF4_uc010dpi.3_Missense_Mutation_p.P136T|TCF4_uc010xdy.1_Missense_Mutation_p.P112T|TCF4_uc002lgc.4_Missense_Mutation_p.P57T|TCF4_uc021ukm.1_Silent_p.T20T	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	136					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGGTTCCTGGGTTGCCCATA	0.453000														120			28		1.77063e-15	2.09702e-15	1	1	0
MTMR9	66036	broad.mit.edu	37	8	11180276	11180276	+	Silent	SNP	C	T	T	rs148685240		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11180276C>T	uc003wtm.3	+	9	2027	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	MTMR9_uc010lrx.3_Silent_p.D436D|MTMR9_uc011kxa.2_Silent_p.D458D|CR749668_uc003wtn.2_5'Flank|CR749668_uc003wto.1_Intron	NM_015458	NP_056273	Q96QG7	MTMR9_HUMAN	Homo sapiens myotubularin related protein 9 (MTMR9), mRNA.	543						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAACAGAGGACGGGATGCAGG	0.463000														93			14		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1398126	1398126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1398126G>A	uc002clk.2	+	32	3442	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	BAIAP3_uc010uuz.2_Missense_Mutation_p.R1060H|BAIAP3_uc010uva.2_Missense_Mutation_p.R1032H|BAIAP3_uc021tag.1_Missense_Mutation_p.R1037H|BAIAP3_uc002clj.3_Missense_Mutation_p.R1077H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R1024H	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	1095	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGCCGCCGCCGCGCGGCCTGT	0.701000														146			9		0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171686050	171686050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171686050C>T	uc002ugi.3	+	3	633	c.211C>T	c.(211-213)Caa>Taa	p.Q71*	GAD1_uc002ugh.3_Nonsense_Mutation_p.Q71*	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	71					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAGGAGAGGCAATCCTCCAA	0.542000														184			63		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36109545	36109545	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109545G>A	uc002oam.1	+	11	1011	c.960G>A	c.(958-960)caG>caA	p.Q320Q		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	320					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCTTGACCCAGCGCCTCCAGG	0.647000														140			30		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	323963	323963	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000192.1:323963T>C	uc010yij.1	-	4		c.667A>G			HYDIN_uc021vdl.1_Non-coding_Transcript	NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AGTGCAGAGCTGGAACATTAA	0.418000														18			4		0	0	1	0	0
BLVRA	644	broad.mit.edu	37	7	43846790	43846790	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43846790G>A	uc010kxv.3	+	8	1024	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	BLVRA_uc003tir.3_Missense_Mutation_p.G283R	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	283					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GCACTGCCTGGGGCTTGCAGA	0.443000														112			25		0	0	1	0	0
SERPIND1	3053	broad.mit.edu	37	22	21141285	21141285	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21141285C>T	uc002ztc.2	+	3	1518	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Silent_p.F477F	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	477					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCTTTCTTTTCCTCATCTACG	0.592000														156			34		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128747250	128747250	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747250C>T	uc010fmd.2	-	12	1878	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	SAP130_uc002tpn.2_Silent_p.Q343Q|SAP130_uc002tpp.2_Silent_p.Q582Q|SAP130_uc002tpq.1_Silent_p.Q555Q	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	582					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GTGGTGCAGGCTGTATCCCTG	0.577000														165			35		0	0	1	0	0
ERICH1	157697	broad.mit.edu	37	8	623643	623643	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:623643C>T	uc003wph.3	-	3	774	c.709G>A	c.(709-711)Gct>Act	p.A237T	ERICH1_uc003wpi.3_Missense_Mutation_p.A49T	NM_207332	NP_997215	Q86X53	ERIC1_HUMAN	Homo sapiens glutamate-rich 1 (ERICH1), mRNA.	237	Glu-rich.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		TCCTCGCTAGCGTCCGCACCA	0.617000														302			80		0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	107914310	107914310	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107914310G>T	uc001tmk.1	+	1	1703	c.1182G>T	c.(1180-1182)caG>caT	p.Q394H	BTBD11_uc009zut.1_Missense_Mutation_p.Q394H|BTBD11_uc001tmj.3_Missense_Mutation_p.Q394H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	394						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						GAGACCCACAGCGGTCAAACA	0.542000														184			50		1.32667e-27	1.66279e-27	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2049591	2049591	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2049591G>A	uc002cof.1	-	10	1974	c.1959C>T	c.(1957-1959)ctC>ctT	p.L653L	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.L17L	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	653	Pro-rich.					intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGGGCCTTGGGAGCCCAGGGG	0.731000														82			14		0	0	1	0	0
C13orf33	84935	broad.mit.edu	37	13	31495263	31495263	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31495263G>T	uc001uth.4	+	3	842	c.501_splice	c.e3+1	p.Q167_splice	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	167										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		ACCGGCTTCAGGTAAGCCTAG	0.507000														36			4		0.00909568	0.00920877	1	1	0
ATR	545	broad.mit.edu	37	3	142281779	142281779	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142281779G>T	uc003eux.4	-	3	587	c.465C>A	c.(463-465)gaC>gaA	p.D155E		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	155					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTAAACCAAGTCTTCAAAAA	0.353000								Other conserved DNA damage response genes						116			18		3.52763e-06	3.73571e-06	1	1	0
DSCC1	79075	broad.mit.edu	37	8	120855987	120855987	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120855987C>A	uc003yov.3	-	5	713	c.578_splice	c.e5-1	p.G193_splice		NM_024094	NP_076999	Q9BVC3	DCC1_HUMAN	Homo sapiens defective in sister chromatid cohesion 1 homolog (S. cerevisiae) (DSCC1), mRNA.	193					DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|pancreas(1)	9	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCTCCAATAACCTACAAATTT	0.363000														149			32		1.30897e-18	1.58338e-18	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101518814	101518814	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101518814C>T	uc004ayu.3	-	11	2235	c.2214G>A	c.(2212-2214)acG>acA	p.T738T	ANKS6_uc004ayv.2_Silent_p.T201T|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.T437T	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	738	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AGGGGGAGGGCGTGAGGGTTG	0.552000														110			35		0	0	1	0	0
KIAA2013	90231	broad.mit.edu	37	1	11980383	11980383	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11980383G>T	uc001atk.3	-	2	2085	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T		NM_138346	NP_612355	Q8IYS2	K2013_HUMAN	Homo sapiens KIAA2013 (KIAA2013), mRNA.	632						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CAGACACTGGGATCTTCCTGT	0.502000														202			27		1.17739e-12	1.36172e-12	1	1	0
EMILIN2	84034	broad.mit.edu	37	18	2890564	2890564	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2890564G>A	uc002kln.3	+	3	598	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	147					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AACAGATAATGAACCCAGCCA	0.433000														92			12		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223773626	223773626	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223773626G>A	uc002vni.3	+	3	587	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACSL3_uc002vnj.3_Missense_Mutation_p.E46K	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	46					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.E46*(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TTTTTTCTCCGAGTCAAGACA	0.299000			T	ETV1	prostate									133			22		0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417900	40417900	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40417900C>T	uc003ayk.1	+	3	1480	c.1386C>T	c.(1384-1386)acC>acT	p.T462T		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	462										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTGTCTCCACCGAGACCTCTG	0.657000														138			25		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72831208	72831208	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72831208C>A	uc002fck.3	-	8	6046	c.5373G>T	c.(5371-5373)caG>caT	p.Q1791H	ZFHX3_uc002fcl.3_Missense_Mutation_p.Q877H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1791	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTGCTGCTGCTGTAGTTGCA	0.572000														179			40		1.96642e-18	2.37535e-18	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46419133	46419133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419133G>A	uc001ncv.2	-	19	4087	c.3773C>T	c.(3772-3774)cCc>cTc	p.P1258L	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.P1226L|AMBRA1_uc001ncu.1_Missense_Mutation_p.P1165L|AMBRA1_uc010rgu.1_Missense_Mutation_p.P1255L|AMBRA1_uc001ncw.2_Missense_Mutation_p.P1136L|AMBRA1_uc001ncx.2_Missense_Mutation_p.P1195L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1255					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AACAGGAATGGGGACAGGGGA	0.647000														138			12		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90390433	90390433	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90390433G>T	uc003pnn.1	-	73	12256	c.12140C>A	c.(12139-12141)tCc>tAc	p.S4047Y		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4047					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S4047P(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCAAGCCGGAAGGAGCAGC	0.572000														87			9		0.000673444	0.000690401	1	1	0
NANOS3	342977	broad.mit.edu	37	19	13988311	13988311	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13988311C>T	uc002mxj.4	+	0	249	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	64					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCAAACACAACGGCGAGTCCC	0.662000														128			18		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52216735	52216735	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52216735A>G	uc002pxn.1	-	3	1716	c.1703T>C	c.(1702-1704)gTg>gCg	p.V568A	HAS1_uc010epc.1_Missense_Mutation_p.V161A|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.V561A|HAS1_uc002pxp.1_Missense_Mutation_p.V560A	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	561					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCGCACGCCCACCCAGTACAG	0.721000														63			5		0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10506432	10506432	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10506432G>A	uc001min.1	+	4	1027	c.682G>A	c.(682-684)Gat>Aat	p.D228N	AMPD3_uc010rbz.1_Missense_Mutation_p.D60N|AMPD3_uc009yfw.1_Intron|AMPD3_uc009yfx.1_Missense_Mutation_p.D219N|AMPD3_uc001mio.1_Missense_Mutation_p.D219N|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.D226N|AMPD3_uc009yfy.2_Missense_Mutation_p.D219N	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	219					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CCCCAACCTGGATTACTTGGT	0.577000														181			33		0	0	1	0	0
QPCT	25797	broad.mit.edu	37	2	37586768	37586768	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37586768G>A	uc002rqg.3	+	2	435	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	105					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTGGGTCTTGGAAATAGACAC	0.423000														112			29		0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48767103	48767103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48767103C>T	uc011mmm.1	-	2	668	c.346G>A	c.(346-348)Gca>Aca	p.A116T	SLC35A2_uc004dlo.1_Missense_Mutation_p.A88T|SLC35A2_uc011mml.1_Missense_Mutation_p.A101T|SLC35A2_uc004dlp.1_Missense_Mutation_p.A88T|SLC35A2_uc011mmn.1_Intron|SLC35A2_uc004dlq.3_Missense_Mutation_p.A88T|SLC35A2_uc004dlr.1_Missense_Mutation_p.A16T|SLC35A2_uc011mmo.1_Missense_Mutation_p.A101T	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	88					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						CTCTTCTGTGCGAAGAGCAGC	0.597000														35			10		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69926239	69926239	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69926239C>T	uc001jnm.4	+	10	1974	c.1789C>T	c.(1789-1791)Cgt>Tgt	p.R597C	MYPN_uc001jnl.1_Missense_Mutation_p.R597C|MYPN_uc001jnn.4_Missense_Mutation_p.R322C|MYPN_uc001jno.4_Missense_Mutation_p.R597C|MYPN_uc009xps.3_Missense_Mutation_p.R597C|MYPN_uc009xpt.3_Missense_Mutation_p.R597C|MYPN_uc010qit.2_Missense_Mutation_p.R303C|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	597						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						GATTGGGCTTCGTGTGCACTT	0.572000														86			31		0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111559251	111559251	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111559251G>A	uc010yxk.1	+	7	794	c.570G>A	c.(568-570)ggG>ggA	p.G190G	ACOXL_uc021vmm.1_Silent_p.G13G|ACOXL_uc021vmn.1_Silent_p.G13G	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	190					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGGACAATGGGATATTAATAT	0.468000														103			34		0	0	1	0	0
CDAN1	146059	broad.mit.edu	37	15	43027557	43027557	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43027557T>C	uc001zql.3	-	4	1076	c.959A>G	c.(958-960)aAc>aGc	p.N320S	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_Non-coding_Transcript	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	320						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAAGAAGAGGTTTGGTACCAG	0.498000														29			5		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584922	179584922	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179584922G>A	uc021vsy.1	-	77	19940	c.19715C>T	c.(19714-19716)gCc>gTc	p.A6572V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A3233V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7499	Ig-like 47.						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)			CTCCACTATGGCCCGTAACTC	0.428000														77			38		0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22162127	22162127	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22162127G>T	uc009vqd.3	-	75	10402	c.10362C>A	c.(10360-10362)atC>atA	p.I3454I	HSPG2_uc001bfj.3_Silent_p.I3453I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502000														61			4		0.00024832	0.000256435	1	1	0
PIK3R3	8503	broad.mit.edu	37	1	46527716	46527716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46527716C>T	uc010olw.2	-	5	804	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PIK3R3_uc001cpb.4_Missense_Mutation_p.E217K|PIK3R3_uc009vyb.3_Missense_Mutation_p.E217K|PIK3R3_uc009vyc.3_Missense_Mutation_p.E234K|PIK3R3_uc001cpc.4_Missense_Mutation_p.E217K|PIK3R3_uc010olv.2_Missense_Mutation_p.E7K	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	217					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					TTAAAAGCTTCTATTGCAGTC	0.333000														91			18		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134103652	134103652	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134103652C>A	uc004cag.3	+	32	6119	c.6008C>A	c.(6007-6009)cCt>cAt	p.P2003H	NUP214_uc004cah.3_Missense_Mutation_p.P1993H|NUP214_uc004cai.3_Missense_Mutation_p.P1433H|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Missense_Mutation_p.P829H	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	2003	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTTACAAGCCCTCTGGGCTCG	0.637000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									114			14		1.49906e-05	1.573e-05	1	1	0
COL8A2	1296	broad.mit.edu	37	1	36563679	36563679	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36563679C>T	uc001bzv.2	-	1	1610	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	COL8A2_uc001bzw.2_Missense_Mutation_p.A470T	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	535	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCATCGAAGGCCCCAGGGGCA	0.746000														44			6		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71066290	71066290	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71066290A>G	uc003hfc.3	+	5	517	c.500A>G	c.(499-501)cAa>cGa	p.Q167R		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	167	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						TCACCTCAACAAACAAGACAG	0.373000														48			17		0	0	1	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098256	92098256	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92098256G>A	uc022ahe.1	-	0	1440	c.1440C>T	c.(1438-1440)atC>atT	p.I480I		NM_014590	NP_055405	Q9UQF0	ENW1_HUMAN	Homo sapiens endogenous retrovirus group W, member 1 (ERVW-1), transcript variant 1, mRNA.	480	Essential for the fusiogenic function.				syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						ttacagcttcgattctggaag	0.468000														85			22		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136372	40136372	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:40136372T>G	uc021qgf.1	-	0	1471	c.1471A>C	c.(1471-1473)Acc>Ccc	p.T491P	LRRC4C_uc001mxc.1_Missense_Mutation_p.T487P|LRRC4C_uc001mxd.1_Missense_Mutation_p.T487P|LRRC4C_uc001mxa.1_Missense_Mutation_p.T491P|LRRC4C_uc001mxb.1_Missense_Mutation_p.T487P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	491					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGAGAGAGGTGGTCACATTG	0.512000														94			20		0	0	1	0	0
ARHGDIG	398	broad.mit.edu	37	16	331765	331765	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:331765G>A	uc002cgm.1	+	1	168	c.93G>A	c.(91-93)gaG>gaA	p.E31E	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgn.1_5'UTR|PDIA2_uc002cgo.1_5'Flank|PDIA2_uc010bqt.1_5'Flank	NM_001176	NP_001167	Q99819	GDIR3_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) gamma (ARHGDIG), mRNA.	31					Rho protein signal transduction|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CTGACAAGGAGGGTGGGCCGC	0.701000														40			13		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101602803	101602803	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101602803C>A	uc002bwr.3	+	30	5141	c.4822C>A	c.(4822-4824)Ctc>Atc	p.L1608I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1608					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCTACACCCTCAAGGGCAT	0.532000														132			14		1.5842e-08	1.73923e-08	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40357401	40357401	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357401C>T	uc002omp.4	-	33	15920	c.15912G>A	c.(15910-15912)acG>acA	p.T5304T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5304	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGGAGTCAACGTCACCATCC	0.542000														104			11		0	0	1	0	0
TMEM59	9528	broad.mit.edu	37	1	54518711	54518711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54518711C>T	uc001cwq.3	-	0	401	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	TCEANC2_uc001cwt.1_5'Flank|TCEANC2_uc001cwu.1_5'Flank|TMEM59_uc001cwp.3_Missense_Mutation_p.A51T|MIR4781_uc021ons.1_5'Flank	NM_004872	NP_004863	Q9BXS4	TMM59_HUMAN	Homo sapiens transmembrane protein 59 (TMEM59), mRNA.	51						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AACTGACAGGCCCGGTGGCAA	0.647000														148			33		0	0	1	0	0
C11orf30	56946	broad.mit.edu	37	11	76169327	76169327	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76169327G>A	uc001oxl.3	+	4	489	c.346G>A	c.(346-348)Gct>Act	p.A116T	C11orf30_uc001oxk.3_Missense_Mutation_p.A116T|C11orf30_uc009yuj.1_Missense_Mutation_p.A130T|C11orf30_uc010rsa.1_Missense_Mutation_p.A116T|C11orf30_uc001oxm.3_Missense_Mutation_p.A116T|C11orf30_uc010rsb.2_Missense_Mutation_p.A130T|C11orf30_uc010rsc.2_Missense_Mutation_p.A130T|C11orf30_uc001oxn.3_Missense_Mutation_p.A116T|C11orf30_uc010rsd.2_Missense_Mutation_p.A130T	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	116	Interaction with BRCA2.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TACTGTAACAGCTAATGCTGT	0.473000														119			29		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	30938573	30938573	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30938573T>G	uc009yjk.1	-	13	1709	c.1640A>C	c.(1639-1641)gAt>gCt	p.D547A	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.D206A	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	178	Doublecortin 2.				intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						TACGTGTGAATCTCTATCAAG	0.408000														119			31		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945157	227945157	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227945157A>G	uc021vxr.1	-	23	1904	c.1803_splice	c.e23+1	p.P601_splice	COL4A4_uc021vxs.1_Splice_Site_p.P601_splice	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	601	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AATTCTACATACTGGAGGTCC	0.448000														175			39		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103576402	103576402	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103576402C>T	uc001ymk.3	+	10	2087	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	671										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGCGCTGCGCCGACTGGGCCG	0.692000														27			3		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382068	51382068	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51382068G>A	uc001wyu.3	-	10	1516	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	PYGL_uc010tqq.2_Silent_p.I429I	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	463					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	p.I463I(2)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGTCTTCACGATGTCTGAGT	0.473000														204			35		0	0	1	0	0
HSPB11	51668	broad.mit.edu	37	1	54387388	54387388	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54387388T>G	uc001cwh.3	-	5	447	c.371A>C	c.(370-372)gAt>gCt	p.D124A	HSPB11_uc001cwi.1_3'UTR	NM_016126	NP_057210	Q9Y547	HSB11_HUMAN	Homo sapiens heat shock protein family B (small), member 11 (HSPB11), mRNA.	124					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TGCAAAATGATCAAAGGCTGA	0.348000														82			9		0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69445334	69445334	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:69445334C>A	uc010lyz.3	+	6	1346	c.1055C>A	c.(1054-1056)tCt>tAt	p.S352Y	C8orf34_uc010lyy.2_Missense_Mutation_p.S352Y|C8orf34_uc003xyb.3_Missense_Mutation_p.S241Y	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	266					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CCTACCCCATCTGTAACAGAA	0.353000														157			19		5.26018e-13	6.10868e-13	1	1	0
UBR2	23304	broad.mit.edu	37	6	42613320	42613320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42613320C>T	uc011dur.2	+	20	2699	c.2401C>T	c.(2401-2403)Cct>Tct	p.P801S	UBR2_uc011dus.2_Missense_Mutation_p.P446S|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	801					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			AAAGTCTTTACCTGAAGATGT	0.363000														89			10		0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42911420	42911420	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42911420G>A	uc002otr.3	-	5	2320	c.2043C>T	c.(2041-2043)atC>atT	p.I681I	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	681					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGAGTAGTCGATGGAGATGA	0.662000														34			5		0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61903629	61903629	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61903629C>A	uc002jbz.3	-	2	287	c.209G>T	c.(208-210)aGc>aTc	p.S70I	FTSJ3_uc002jca.3_Missense_Mutation_p.S70I|PSMC5_uc002jcb.3_5'Flank|PSMC5_uc010ddy.3_5'Flank|PSMC5_uc002jcd.3_5'Flank	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	70					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CACAATAAGGCTGGATACAGG	0.453000														309			65		1.19759e-16	1.43066e-16	1	1	0
WFIKKN2	124857	broad.mit.edu	37	17	48917794	48917794	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48917794C>T	uc002isv.4	+	1	1839	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652000														190			30		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66102411	66102411	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66102411G>T	uc001ohn.1	-	5	986	c.859C>A	c.(859-861)Cta>Ata	p.L287I	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.L182I|RIN1_uc010rpa.1_Missense_Mutation_p.L182I	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	287					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCCTCCGTAGCAGCTGGCAA	0.711000														62			14		0.000151284	0.000156809	1	1	0
FMO2	2327	broad.mit.edu	37	1	171177942	171177942	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171177942A>G	uc001ghk.1	+	8	1383	c.1266A>G	c.(1264-1266)gaA>gaG	p.E422E	FMO2_uc010pmd.1_Silent_p.E202E	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	422					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGTTTGGAGAAAGCCAGAGCC	0.408000														225			34		0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46252654	46252654	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46252654G>T	uc002xtk.3	+	4	345	c.84_splice	c.e4-1	p.G28_splice	NCOA3_uc002xtl.3_Splice_Site_p.G28_splice|NCOA3_uc002xtn.3_Splice_Site_p.G28_splice|NCOA3_uc010ght.2_Splice_Site_p.G28_splice|NCOA3_uc002xtm.3_Splice_Site_p.G28_splice	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	28					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTTTCCCTTAGTCTTACCTGC	0.393000														54			10		5.16669e-11	5.85653e-11	1	1	0
TMEM132D	121256	broad.mit.edu	37	12	130185005	130185005	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185005C>T	uc009zyl.1	-	1	646	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	106						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AATCCTGGGGCACCACTTGCT	0.502000														90			16		0	0	1	0	0
ZNF639	51193	broad.mit.edu	37	3	179051598	179051598	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179051598C>T	uc003fjr.1	+	6	1291	c.846C>T	c.(844-846)acC>acT	p.T282T	ZNF639_uc003fjq.1_Silent_p.T282T	NM_016331	NP_057415	Q9UID6	ZN639_HUMAN	Homo sapiens zinc finger protein 639 (ZNF639), mRNA.	282					initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TTGCAGACACCCATTTTAGTG	0.418000														153			28		0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52729015	52729015	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52729015G>T	uc002pyp.3	+	13	2002	c.1707G>T	c.(1705-1707)caG>caT	p.Q569H	PPP2R1A_uc010ydk.2_Missense_Mutation_p.Q514H|PPP2R1A_uc002pyq.3_Missense_Mutation_p.Q390H	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	569	PP2A subunit C binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		AGCTGACCCAGGACCAGGATG	0.567000			Mis		clear cell ovarian carcinoma									176			43		9.84934e-19	1.19234e-18	1	1	0
EFTUD2	9343	broad.mit.edu	37	17	42953350	42953350	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42953350G>T	uc002ihn.2	-	9	1082	c.821C>A	c.(820-822)gCt>gAt	p.A274D	EFTUD2_uc010wje.1_Missense_Mutation_p.A239D|EFTUD2_uc010wjf.1_Missense_Mutation_p.A264D	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	274						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CTTGTAATAAGCATCAGTTGG	0.517000														329			66		7.65386e-43	9.74128e-43	1	1	0
HIGD2B	123346	broad.mit.edu	37	15	72972455	72972455	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72972455A>C	uc002ava.3	-	1		c.412T>G								Homo sapiens HIG1 hypoxia inducible domain family, member 2B (HIGD2B), non-coding RNA.																		CCATCAACCAAAGTTTAGGTT	0.443000														36			7		0	0	1	0	0
SENP8	123228	broad.mit.edu	37	15	72432323	72432323	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72432323C>T	uc021spq.1	+	1	692	c.359C>T	c.(358-360)tCc>tTc	p.S120F	SENP8_uc021spr.1_Missense_Mutation_p.S120F|SENP8_uc021sps.1_Missense_Mutation_p.S120F|SENP8_uc021spt.1_Missense_Mutation_p.S120F|SENP8_uc002atp.3_Missense_Mutation_p.S120F|SENP8_uc021spu.1_Missense_Mutation_p.S120F	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	120	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						CATTATGATTCCCATAGCAGG	0.433000														122			21		0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116196108	116196108	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116196108G>A	uc021pyx.1	-	22	2347	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	ABLIM1_uc021pyw.1_3'UTR|ABLIM1_uc021pyy.1_Missense_Mutation_p.R715W|ABLIM1_uc021pyz.1_3'UTR|ABLIM1_uc021pza.1_Missense_Mutation_p.R690W|ABLIM1_uc021pyv.1_3'UTR|ABLIM1_uc021pyu.1_Missense_Mutation_p.R427W	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	750	HP.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		AAGATTTCCCGAAACACTTCA	0.453000														106			22		0	0	1	0	0
PYGM	5837	broad.mit.edu	37	11	64518041	64518041	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64518041C>A	uc001oax.4	-	16	2801	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	PYGM_uc001oay.4_Missense_Mutation_p.D574Y	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	662					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TCAGAGAGGTCTGCAGCTGGG	0.607000														114			20		1.33834e-09	1.48855e-09	1	1	0
GAD1	2571	broad.mit.edu	37	2	171678658	171678658	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171678658C>T	uc002ugi.3	+	3	567	c.145_splice	c.e3+1	p.G49_splice	GAD1_uc002ugh.3_Splice_Site_p.G49_splice	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	49					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAAGATCTGCGGTAAGTGAC	0.657000														35			6		0	0	1	0	0
FAM53C	51307	broad.mit.edu	37	5	137681135	137681135	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137681135C>T	uc003lcv.3	+	3	1228	c.758C>T	c.(757-759)gCa>gTa	p.A253V	FAM53C_uc003lcw.3_Missense_Mutation_p.A253V|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_Missense_Mutation_p.H69Y	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	253										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCTCTCCCGCATCCTCCCCA	0.657000														275			76		0	0	1	0	0
TRIM33	51592	broad.mit.edu	37	1	114948188	114948188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114948188G>A	uc001eew.3	-	14	2696	c.2612C>T	c.(2611-2613)tCg>tTg	p.S871L	TRIM33_uc010owr.2_Missense_Mutation_p.S485L|TRIM33_uc010ows.2_Missense_Mutation_p.S503L|TRIM33_uc001eex.3_Missense_Mutation_p.S871L|TRIM33_uc001eey.1_Missense_Mutation_p.S66L	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	871					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|R-SMAD binding|co-SMAD binding|ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|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)		AATCCTTGCCGACCTGTGCAT	0.468000			T	RET	papillary thyroid									234			69		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50549780	50549780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50549780C>T	uc002prn.3	+	4	2317	c.2080C>T	c.(2080-2082)Cga>Tga	p.R694*	ZNF473_uc002prm.3_Nonsense_Mutation_p.R694*|ZNF473_uc010ybo.2_Nonsense_Mutation_p.R682*	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	694					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.R694*(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCAGCATGAGCGAACTCATGC	0.453000														130			27		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47333423	47333423	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47333423C>T	uc003tnw.3	-	24	4038	c.3680G>A	c.(3679-3681)gGa>gAa	p.G1227E	TNS3_uc022acn.1_Missense_Mutation_p.G784E	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1227	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCAAATCTCCAGCTGTGGC	0.433000														74			14		0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770417	152770417	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770417C>A	uc021ozh.1	+	0	147	c.147C>A	c.(145-147)ggC>ggA	p.G49G	LCE1D_uc009wnp.3_Silent_p.G49G	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	49	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTGTGGCTCCAGCTCTG	0.672000														96			47		9.52127e-25	1.18461e-24	1	1	0
RPS6KA2	6196	broad.mit.edu	37	6	166864717	166864717	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166864717A>C	uc003qvd.1	-	14	1268	c.1155T>G	c.(1153-1155)tcT>tcG	p.S385S	RPS6KA2_uc011ego.1_Silent_p.S271S|RPS6KA2_uc010kkl.1_Silent_p.S271S|RPS6KA2_uc003qvb.1_Silent_p.S360S|RPS6KA2_uc003qvc.1_Silent_p.S368S	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	360	AGC-kinase C-terminal.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACGCCAGGAGAGTCTGTAG	0.552000														171			37		0	0	1	0	0
FRMD7	90167	broad.mit.edu	37	X	131228097	131228097	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131228097C>T	uc004ewn.3	-	4	533	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	FRMD7_uc022cdy.1_5'UTR|FRMD7_uc011muy.2_Missense_Mutation_p.A104T	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCATCAACGCTGTACAGTTG	0.443000														145			28		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191600	40191600	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191600A>G	uc002yxf.3	+	8	1445	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	ETS2_uc002yxg.3_Missense_Mutation_p.M329V	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	329					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TAAGCCAACCATGTCTTTCAA	0.537000														45			8		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56128916	56128916	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56128916A>T	uc010qhy.1	-	5	848	c.453T>A	c.(451-453)acT>acA	p.T151T	PCDH15_uc010qhq.2_Silent_p.T151T|PCDH15_uc010qhr.2_Silent_p.T146T|PCDH15_uc021pqv.1_Silent_p.T146T|PCDH15_uc021pqw.1_Silent_p.T151T|PCDH15_uc010qht.2_Silent_p.T146T|PCDH15_uc021pqx.1_Silent_p.T146T|PCDH15_uc001jjv.1_Silent_p.T124T|PCDH15_uc021pqy.1_Silent_p.T146T|PCDH15_uc021pqz.1_Silent_p.T124T|PCDH15_uc010qhv.1_Silent_p.T146T|PCDH15_uc010qhw.1_Silent_p.T146T|PCDH15_uc010qhx.1_Silent_p.T146T|PCDH15_uc010qhz.1_Silent_p.T146T|PCDH15_uc010qia.1_Silent_p.T124T|PCDH15_uc001jju.1_Silent_p.T146T|PCDH15_uc010qib.1_Silent_p.T124T|PCDH15_uc001jjw.3_Silent_p.T146T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	146	Cadherin 2.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATGCTTGAAAGTGGGTGAGT	0.403000										HNSCC(58;0.16)				67			10		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46704391	46704391	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46704391G>T	uc011aqy.2	+	3	525	c.313G>T	c.(313-315)Gct>Tct	p.A105S	GTSE1_uc011aqz.2_5'UTR	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	86					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		GTACAAAGAAGCTCACTTACT	0.567000														181			39		6.97489e-18	8.39457e-18	1	1	0
CLUAP1	23059	broad.mit.edu	37	16	3569998	3569998	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3569998A>G	uc002cvk.1	+	6	780	c.675A>G	c.(673-675)gaA>gaG	p.E225E	CLUAP1_uc002cvj.1_Silent_p.E225E|CLUAP1_uc002cvm.1_Silent_p.E59E|CLUAP1_uc021tcg.1_5'UTR	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	225						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						TAGAACTGGAAAGAAATCGGA	0.403000														128			32		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117077847	117077847	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077847G>A	uc001pqr.3	-	14	2017	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	PCSK7_uc001pqs.1_Intron	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	606	Homo B/P.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGCCATTGCCGGAGGATGCCG	0.607000			T	IGH@	MLCLS									182			15		0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697117	27697117	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27697117C>T	uc001boa.3	-	6	634	c.628G>A	c.(628-630)Gca>Aca	p.A210T	FCN3_uc001bob.3_Missense_Mutation_p.A199T	NM_003665	NP_003656	O75636	FCN3_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 3 (Hakata antigen) (FCN3), transcript variant 1, mRNA.	210	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCCCAGTGCCAGCTGGTAG	0.587000														164			38		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16355009	16355009	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16355009G>A	uc002wpg.2	-	19	3402	c.3243C>T	c.(3241-3243)gtC>gtT	p.V1081V	KIF16B_uc002wpe.1_Silent_p.V463V|KIF16B_uc002wpf.1_Silent_p.V463V|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Silent_p.V1081V	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1081					Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAACACCATCGACCTCATAAA	0.443000														81			21		0	0	1	0	0
LSM11	134353	broad.mit.edu	37	5	157178476	157178476	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157178476T>G	uc003lxe.1	+	1	531	c.527T>G	c.(526-528)tTc>tGc	p.F176C		NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	176	SM 1.				S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGCACTTTCAAGGGACTT	0.512000														165			41		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44974963	44974963	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44974963C>T	uc001wvn.3	-	0	1537	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	410	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTACTTTAGCTGGGGCCTCT	0.512000														102			24		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40895661	40895661	+	Missense_Mutation	SNP	C	T	T	rs146668696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40895661C>T	uc002onp.3	-	0	434	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	50	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTGATGATGCGGTTGCGGTA	0.607000														311			44		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42005127	42005127	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42005127G>A	uc011kbh.2	-	14	3635	c.3544C>T	c.(3544-3546)Cgg>Tgg	p.R1182W	GLI3_uc011kbg.2_Missense_Mutation_p.R1123W	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1182					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1182W(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACAGCGGGCCGCGGCCCACAC	0.667000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					396			79		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848402	117848402	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848402G>T	uc004bjj.4	-	2	2020	c.1608C>A	c.(1606-1608)tgC>tgA	p.C536*	TNC_uc010mvf.3_Nonsense_Mutation_p.C536*|TNC_uc022bmj.1_Nonsense_Mutation_p.C536*	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	536	EGF-like 13.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGGCCATGGCAGTCATTTG	0.582000														145			9		2.74318e-10	3.085e-10	1	1	0
PCSK6	5046	broad.mit.edu	37	15	101933572	101933572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:101933572C>T	uc002bxa.2	-	8	1365	c.1051G>A	c.(1051-1053)Ggg>Agg	p.G351R	PCSK6_uc010bpd.3_Missense_Mutation_p.G222R|PCSK6_uc002bwy.3_Missense_Mutation_p.G351R|PCSK6_uc010bpe.3_Missense_Mutation_p.G348R|PCSK6_uc002bxb.2_Missense_Mutation_p.G351R|PCSK6_uc002bxc.1_Missense_Mutation_p.G351R|PCSK6_uc002bxd.1_Missense_Mutation_p.G351R|PCSK6_uc002bxe.3_Missense_Mutation_p.G351R|PCSK6_uc002bxg.1_Missense_Mutation_p.G351R	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	352	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGTAGTCCCCCTCTCTCCCG	0.612000														98			21		0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244498	48244498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48244498C>T	uc002phj.4	+	5	1691	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	EHD2_uc010xyu.2_Missense_Mutation_p.L345F	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	481	EF-hand.|EH.				blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		GGGGACCAAGCTCCCCAACTC	0.612000														152			8		0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158045	102158045	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102158045A>G	uc001tit.3	-	12	2842	c.2650T>C	c.(2650-2652)Tac>Cac	p.Y884H		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	884					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CTATCTGTGTAATGCTGCAGC	0.393000														255			62		0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1426401	1426401	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1426401A>G	uc002wfc.3	-	7	1728	c.860T>C	c.(859-861)aTc>aCc	p.I287T	NSFL1C_uc021vzq.1_Missense_Mutation_p.I173T|NSFL1C_uc002wfe.3_Missense_Mutation_p.I256T	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	287						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCGATTAAGATGGAAGAGCT	0.532000														253			74		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131199340	131199340	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131199340A>G	uc003qch.2	-	13	2129	c.1947T>C	c.(1945-1947)agT>agC	p.S649S	EPB41L2_uc003qce.1_Silent_p.S27S|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Intron|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcj.1_5'UTR	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	649	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GCTTGAGTTCACTAATGCTAG	0.453000														84			20		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735471	40735471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40735471G>A	uc002xkg.3	-	23	3529	c.3345C>T	c.(3343-3345)tgC>tgT	p.C1115C	PTPRT_uc010ggj.3_Silent_p.C1134C|PTPRT_uc010ggi.3_Silent_p.C318C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1115	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.G1114G(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCTCACGCACGCAGTTGAAGA	0.582000														177			43		0	0	1	0	0
SERPINE1	5054	broad.mit.edu	37	7	100777156	100777156	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100777156G>A	uc003uxt.3	+	4	1029	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SERPINE1_uc011kkj.2_Missense_Mutation_p.R279H|SERPINE1_uc003uxu.2_Missense_Mutation_p.R125H	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	294					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.R294C(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGGCTGCCCCGCCTCCTGGTT	0.592000														117			20		0	0	1	0	0
PAPSS2	9060	broad.mit.edu	37	10	89473032	89473032	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:89473032G>A	uc001kex.3	+	2	609	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	PAPSS2_uc001kew.3_Missense_Mutation_p.V116I|PAPSS2_uc009xtg.1_Non-coding_Transcript	NM_004670	NP_004661	O95340	PAPS2_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 2 (PAPSS2), transcript variant 1, mRNA.	116					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGCTGGTCTGGTCTGCATTAC	0.448000														103			25		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525846	228525846	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228525846G>A	uc009xez.1	+	67	17045	c.17001_splice	c.e67+1	p.K5667_splice	OBSCN_uc001hsn.3_Splice_Site_p.K5667_splice|OBSCN_uc001hsr.1_Splice_Site_p.K295_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5667	SH3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGGCTCAAGGTATCTGAATG	0.682000														61			15		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884503	228884503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228884503G>A	uc002vpq.2	-	6	1114	c.1067C>T	c.(1066-1068)gCa>gTa	p.A356V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A356V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A356V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	356						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)		CACAGCACATGCAGAAGGTAC	0.433000														186			74		0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117120136	117120136	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117120136A>G	uc001egq.1	-	11	4148	c.3443T>C	c.(3442-3444)tTc>tCc	p.F1148S	IGSF3_uc001egr.1_Missense_Mutation_p.F1128S	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	1128						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		GAAGAAGACGAAGTAGAAGAG	0.498000														94			24		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113683039	113683039	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113683039C>T	uc001poh.3	-	15	1964	c.1931G>A	c.(1930-1932)tGt>tAt	p.C644Y	USP28_uc001pog.3_Missense_Mutation_p.C352Y|USP28_uc010rwy.2_Missense_Mutation_p.C519Y|USP28_uc001poi.3_5'UTR	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	644					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GTACATCAGACAGTAAGCACT	0.413000														105			17		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23287078	23287078	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287078G>A	uc001irm.4	+	11	1259	c.1176_splice	c.e11-1	p.N392_splice	ARMC3_uc010qcv.2_Splice_Site_p.N392_splice|ARMC3_uc010qcw.2_Splice_Site_p.N129_splice	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	392							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTACTCAGCGCTGCTGCTGA	0.378000														31			8		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161505595	161505595	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161505595G>T	uc003qtn.3	+	6	2460	c.2318G>T	c.(2317-2319)aGc>aTc	p.S773I	MAP3K4_uc010kkc.1_Missense_Mutation_p.S773I|MAP3K4_uc003qto.3_Missense_Mutation_p.S773I|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.S226I	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	773					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTACAGGAGAGCTGTGCTGAA	0.408000														105			6		0.217242	0.217542	1	1	0
MON1B	22879	broad.mit.edu	37	16	77228783	77228783	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228783C>T	uc002fez.3	+	3	1357	c.1027C>T	c.(1027-1029)Ctg>Ttg	p.L343L	MON1B_uc010vnf.2_Silent_p.L234L|MON1B_uc010vng.2_Silent_p.L197L|MON1B_uc002ffa.3_Silent_p.L223L	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	343							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						CGTGGCCCGCCTGGATGCTAT	0.637000														293			69		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237272537	237272537	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237272537G>T	uc002vwb.2	-	14	1813	c.1779C>A	c.(1777-1779)gtC>gtA	p.V593V	IQCA1_uc002vvz.1_Silent_p.V585V|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.V544V	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	585							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						AGATGGCATGGACCAGCATTT	0.512000														144			60		7.91745e-34	1.00082e-33	1	1	0
PHTF1	10745	broad.mit.edu	37	1	114255905	114255905	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114255905C>T	uc009wgp.1	-	6	1231	c.779G>A	c.(778-780)cGt>cAt	p.R260H	PHTF1_uc001edn.3_Missense_Mutation_p.R260H|PHTF1_uc001edm.2_Missense_Mutation_p.R17H|PHTF1_uc001edo.1_Missense_Mutation_p.R17H	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN	Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA.	260						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTACCCTACGGCACTTTTC	0.358000														99			14		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100198522	100198522	+	Nonstop_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100198522A>C	uc011kjz.1	+	9	1925	c.1857A>C	c.(1855-1857)taA>taC	p.*619Y	FBXO24_uc003uvm.1_Nonstop_Mutation_p.*581Y|FBXO24_uc003uvn.1_Nonstop_Mutation_p.*219Y|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Nonstop_Mutation_p.*569Y|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	0						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CTGAGACCTAATCCCCCTCAT	0.632000														184			10		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54920455	54920455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54920455G>A	uc001sgc.4	+	20	2379	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	NCKAP1L_uc010sox.2_Missense_Mutation_p.R309H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R717H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	767					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.R767H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGAGTCATCCGCAACGCCCTC	0.512000														98			15		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2139898	2139898	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139898G>A	uc002fub.1	-	9	2812	c.2757C>T	c.(2755-2757)gtC>gtT	p.V919V	SMG6_uc010vqv.1_Silent_p.V11V|SMG6_uc002fud.2_Silent_p.V888V|AJ276246_uc002fuc.1_5'Flank	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	919					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCTTGAGGACCTTCTCAG	0.502000														100			27		0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487781	63487781	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63487781C>T	uc001nxq.3	+	2	1994	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.P491S|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.P584S|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	603					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane		p.E603K(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCCTGAAAAGCCTATTACTAC	0.403000														162			26		0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134060123	134060123	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134060123C>T	uc011ljd.2	-	3	502	c.424G>A	c.(424-426)Gac>Aac	p.D142N	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Missense_Mutation_p.D102N|SLA_uc011lje.2_Missense_Mutation_p.D119N|SLA_uc011ljf.2_5'UTR|SLA_uc011ljg.2_Missense_Mutation_p.D119N|SLA_uc010mdy.1_Missense_Mutation_p.D102N	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	102	SH2.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			ACCTTTGTGTCTGGCAGCTGC	0.572000														108			12		0	0	1	0	0
BYSL	705	broad.mit.edu	37	6	41895197	41895197	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41895197C>T	uc003orl.3	+	1	690	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_004053	NP_004044	Q13895	BYST_HUMAN	Homo sapiens bystin-like (BYSL), mRNA.	118					cell adhesion|female pregnancy|ribosome biogenesis	cytoplasm|nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1)	8	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGCAGCGGGCCATCATGCAG	0.562000														175			24		0	0	1	0	0
AK2	204	broad.mit.edu	37	1	33487216	33487216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33487216C>T	uc001bwp.2	-	2	391	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	BC036308_uc001bwn.3_Intron|AK2_uc001bwq.2_Missense_Mutation_p.R55Q|AK2_uc010ohq.2_Missense_Mutation_p.R103Q|AK2_uc001bwo.2_Missense_Mutation_p.R103Q|AK2_uc009vud.2_Missense_Mutation_p.R61Q|AK2_uc010ohr.2_Missense_Mutation_p.R55Q	NM_001625	NP_001616	P54819	KAD2_HUMAN	Homo sapiens adenylate kinase 2 (AK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	103			R -> W (in RDYS).		nucleobase, nucleoside and nucleotide interconversion	mitochondrial intermembrane space	ATP binding|adenylate kinase activity			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CCTCACAGTCCGAGGGAAGCC	0.423000														70			19		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44085236	44085236	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44085236G>A	uc001cjr.3	+	27	5264	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	PTPRF_uc001cjs.3_Missense_Mutation_p.E1633K|PTPRF_uc001cju.3_Missense_Mutation_p.E1031K|PTPRF_uc009vwt.3_Missense_Mutation_p.E1202K|PTPRF_uc001cjv.3_Missense_Mutation_p.E1113K|PTPRF_uc001cjw.3_Missense_Mutation_p.E868K	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1642	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CATGGAGCTCGAGTTCAAGGT	0.652000														114			18		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313950	54313950	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313950C>T	uc002qcj.4	-	2	1183	c.963G>A	c.(961-963)gaG>gaA	p.E321E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.E321E|NLRP12_uc002qci.4_Silent_p.E321E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.E321E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	321	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAAGAAGCAGCTCCGTGGGCC	0.567000														127			41		0	0	1	0	0
GAS2	2620	broad.mit.edu	37	11	22696559	22696559	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22696559A>G	uc009yie.3	+	2	451	c.145_splice	c.e2+1	p.G49_splice	GAS2_uc001mqm.3_Splice_Site_p.G49_splice|GAS2_uc001mqn.3_Splice_Site|GAS2_uc001mqo.3_Splice_Site_p.G49_splice	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	49	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCAATCTATTAGGTAAGGTTA	0.393000														70			11		0	0	1	0	0
FPR3	2359	broad.mit.edu	37	19	52327369	52327369	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52327369G>A	uc002pxt.1	+	1	552	c.368G>A	c.(367-369)cGc>cAc	p.R123H	FPR3_uc021uyq.1_Missense_Mutation_p.R123H	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	123					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.R123C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						GCTCTGGACCGCTGTATTTGT	0.478000														161			20		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36336643	36336643	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36336643C>T	uc003tfa.3	+	6	1997	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	453					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						TGGCCAAGGGCCAGACAGCAA	0.468000														80			18		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7735942	7735942	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7735942G>A	uc002giu.1	+	81	12786	c.12772G>A	c.(12772-12774)Gcc>Acc	p.A4258T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4258					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)				CCGGGACTTGGCCATGCGTGT	0.572000														371			71		0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057147	120057147	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120057147C>T	uc001ehv.1	+	3	1146	c.1001C>T	c.(1000-1002)gCt>gTt	p.A334V		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	334					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TATAAGAAGGCTCAGCGAGAT	0.517000														132			16		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102783309	102783309	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102783309C>A	uc001ksn.3	-	3	676	c.426G>T	c.(424-426)gaG>gaT	p.E142D	PDZD7_uc021pxc.1_Missense_Mutation_p.E142D|PDZD7_uc001kso.2_Missense_Mutation_p.E142D	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	142	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		TGGTGGTGCTCTCCAGGCTCA	0.647000														133			36		5.04308e-16	5.99817e-16	1	1	0
ARF5	381	broad.mit.edu	37	7	127230185	127230185	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127230185G>A	uc003vmb.2	+	3	471	c.324G>A	c.(322-324)caG>caA	p.Q108Q	ARF5_uc010llb.2_3'UTR|FSCN3_uc003vmc.1_5'Flank	NM_001662	NP_001653	P84085	ARF5_HUMAN	Homo sapiens ADP-ribosylation factor 5 (ARF5), mRNA.	108					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						ATGAACTCCAGAAGATGGTGA	0.542000														119			34		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54527296	54527296	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54527296T>C	uc021smr.1	+	3	3140	c.3140T>C	c.(3139-3141)gTc>gCc	p.V1047A	UNC13C_uc021sms.1_Missense_Mutation_p.V1047A	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1047					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTGCCTATTGTCCGAGATGTG	0.378000														36			10		0	0	1	0	0
CUEDC2	79004	broad.mit.edu	37	10	104183780	104183780	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104183780C>T	uc001kvn.2	-	5	718	c.567G>A	c.(565-567)ggG>ggA	p.G189G	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	189						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGCTGCAGGCCCCTCTTCCT	0.597000														99			18		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55883597	55883597	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55883597G>A	uc021tir.1	-	11	1595	c.1449C>T	c.(1447-1449)caC>caT	p.H483H	CES5A_uc002eip.2_Silent_p.H454H|CES5A_uc002eio.2_Intron|CES5A_uc002eiq.2_Silent_p.H215H|CES5A_uc002eir.2_Silent_p.H348H	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	454						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTCATCAGCGTGGTCGGCTT	0.527000														224			57		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8381680	8381680	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8381680T>C	uc002glm.3	-	40	5778	c.5682A>G	c.(5680-5682)cgA>cgG	p.R1894R	MYH10_uc002gll.3_Silent_p.R1863R|MYH10_uc010cnx.3_Silent_p.R1872R	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1863					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						GGTCCGCGTGTCGACGCTCAT	0.542000														200			13		0	0	1	0	0
CXCR7	57007	broad.mit.edu	37	2	237489978	237489978	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237489978G>A	uc021vys.1	+	0	870	c.870G>A	c.(868-870)gaG>gaA	p.E290E	CXCR7_uc010fyq.3_Silent_p.E290E|CXCR7_uc002vwd.3_Silent_p.E290E	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	290					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCCGGCTGGAGCACGCCCTCT	0.592000														218			83		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42178429	42178429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42178429G>A	uc001zos.3	-	6	1252	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	342					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		p.R342W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGTAGCTGCCGCATGGCGGGC	0.637000														113			15		0	0	1	0	0
GYS2	2998	broad.mit.edu	37	12	21690005	21690005	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21690005A>G	uc001rfb.3	-	15	2250	c.1995T>C	c.(1993-1995)gaT>gaC	p.D665D		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	665					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGTATCTCTCATCCTCCACTT	0.483000														87			24		0	0	1	0	0
OSBPL6	114880	broad.mit.edu	37	2	179248841	179248841	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179248841G>T	uc002uly.3	+	18	2570	c.2026G>T	c.(2026-2028)Gtc>Ttc	p.V676F	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.V651F|OSBPL6_uc010zfe.2_Missense_Mutation_p.V620F|OSBPL6_uc002ulz.3_Missense_Mutation_p.V615F|OSBPL6_uc002uma.3_Missense_Mutation_p.V655F	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	651					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTCAACCCAGTCCTTGGGGA	0.448000														396			65		8.81991e-31	1.11154e-30	1	1	0
JAG1	182	broad.mit.edu	37	20	10621489	10621489	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:10621489C>T	uc002wnw.2	-	24	3657	c.3141G>A	c.(3139-3141)tcG>tcA	p.S1047S		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	1047					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGCAATCAGCGAGCTGTTTC	0.448000									Alagille Syndrome					107			23		0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28385002	28385002	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385002C>T	uc003xgx.3	+	4	1254	c.725C>T	c.(724-726)gCa>gTa	p.A242V	FZD3_uc010lvb.3_Missense_Mutation_p.A242V	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	242					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		ATATTTTATGCAGTCTGCTAC	0.368000														112			21		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27824902	27824902	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27824902G>T	uc003szl.3	+	5	915	c.733G>T	c.(733-735)Gca>Tca	p.A245S	TAX1BP1_uc011jzo.2_Missense_Mutation_p.A245S|TAX1BP1_uc003szk.3_Missense_Mutation_p.A245S|TAX1BP1_uc011jzp.2_Missense_Mutation_p.A88S	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	245					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AACACATAAAGCAATTGAAAA	0.279000														62			7		0.00621372	0.00630477	1	1	0
PIGS	94005	broad.mit.edu	37	17	26888486	26888486	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26888486C>A	uc002hbo.2	-	5	1003	c.630G>T	c.(628-630)gaG>gaT	p.E210D	PIGS_uc002hbn.2_Missense_Mutation_p.E202D|PIGS_uc010wap.1_Missense_Mutation_p.E149D	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	210					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCACTTGTCCTCTGGAAGGT	0.572000														83			5		0.000602214	0.000618135	1	1	0
ZNF287	57336	broad.mit.edu	37	17	16455434	16455434	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16455434T>C	uc021trd.1	-	5	2640	c.2022A>G	c.(2020-2022)aaA>aaG	p.K674K	ZNF287_uc002gqi.2_Silent_p.K674K	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	667					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		ATTTATAGGGTTTTTCTCCAG	0.348000														61			18		0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105187998	105187998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:105187998G>A	uc004emd.3	+	23	4327	c.4024G>A	c.(4024-4026)Gca>Aca	p.A1342T		NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1342	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTATGCATGGGCACCAAAGTC	0.318000										HNSCC(51;0.14)				5			6		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129244046	129244046	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129244046C>A	uc003kvd.3	+	1	1079	c.1079C>A	c.(1078-1080)tCt>tAt	p.S360Y		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	360						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGTGTCTGGTCTTACGAGGTA	0.428000														72			26		1.42536e-11	1.62618e-11	1	1	0
WNK2	65268	broad.mit.edu	37	9	95947834	95947834	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95947834C>T	uc004ati.1	+	0	623	c.623C>T	c.(622-624)aCg>aTg	p.T208M	WNK2_uc011lud.1_Missense_Mutation_p.T208M|WNK2_uc004atj.3_Missense_Mutation_p.T208M|WNK2_uc010mrc.1_Missense_Mutation_p.T208M	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	208	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCTTCAAGACGGTCTACAAG	0.667000														52			13		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25205943	25205943	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25205943A>G	uc002wuj.2	+	13	1526	c.1346A>G	c.(1345-1347)aAa>aGa	p.K449R	ENTPD6_uc002wum.2_Missense_Mutation_p.K432R|ENTPD6_uc010zta.1_Silent_p.Q463Q|ENTPD6_uc002wuk.2_Missense_Mutation_p.K448R|ENTPD6_uc002wul.2_Silent_p.Q462Q|ENTPD6_uc010ztb.1_Silent_p.Q435Q|ENTPD6_uc010ztc.1_Missense_Mutation_p.K421R|ENTPD6_uc002wuo.2_Missense_Mutation_p.K201R|ENTPD6_uc010zsz.1_Missense_Mutation_p.K231R|ENTPD6_uc010ztd.1_Missense_Mutation_p.K197R|ENTPD6_uc010gdl.1_Non-coding_Transcript|ENTPD6_uc010gdk.1_Non-coding_Transcript	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	449						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCAGGAGCAAAGTGCTGAAG	0.607000														57			13		0	0	1	0	0
ROBO3	64221	broad.mit.edu	37	11	124742317	124742317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124742317G>A	uc001qbc.3	+	7	1368	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	400	Ig-like C2-type 4.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCGACGGGGCGCTTCTCAGTG	0.612000														105			27		0	0	1	0	0
ALG12	79087	broad.mit.edu	37	22	50307102	50307102	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50307102C>A	uc003biy.3	-	2	500	c.226G>T	c.(226-228)Gtg>Ttg	p.V76L		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	76					GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGAGAACACTGCGATCACC	0.572000														140			20		1.01871e-10	1.15017e-10	1	1	0
GCHFR	2644	broad.mit.edu	37	15	41059447	41059447	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41059447C>A	uc001zmr.1	+	2	249	c.155C>A	c.(154-156)cCt>cAt	p.P52H	GCHFR_uc010ucr.1_Missense_Mutation_p.P41H|C15orf62_uc010bby.3_5'Flank	NM_005258	NP_005249	P30047	GFRP_HUMAN	Homo sapiens GTP cyclohydrolase I feedback regulator (GCHFR), mRNA.	52					negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GTCGATGACCCTCCCCGCATA	0.592000														257			20		4.96729e-08	5.40616e-08	1	1	0
TMEM184A	202915	broad.mit.edu	37	7	1590537	1590537	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1590537C>T	uc003skv.4	-	2	618	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	TMEM184A_uc003skt.4_5'UTR|TMEM184A_uc021zyr.1_5'UTR	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	101						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGTCGAAGGCGTAGATGGGC	0.622000														93			28		0	0	1	0	0
NOL9	79707	broad.mit.edu	37	1	6592123	6592123	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6592123T>C	uc001ans.3	-	8	1648	c.1552A>G	c.(1552-1554)Att>Gtt	p.I518V	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	518					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCGAAGAATTTTGTTATGT	0.463000														106			13		0	0	1	0	0
ZNF37BP	100129482	broad.mit.edu	37	10	43019169	43019169	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43019169C>T	uc001jab.4	-	2		c.2391G>A			ZNF37BP_uc001jac.4_Non-coding_Transcript|ZNF37BP_uc001jaa.4_Non-coding_Transcript					Homo sapiens zinc finger protein 37B, pseudogene (ZNF37BP), non-coding RNA.																		TAGTCACATCCCTAAATGACA	0.463000														72			15		0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132980547	132980547	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:132980547G>T	uc003yte.3	+	8	1065	c.861G>T	c.(859-861)caG>caT	p.Q287H		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	287						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTCAGGCTCAGTATTCTCACC	0.413000														39			9		0.00448238	0.00455828	1	1	0
INHBC	3626	broad.mit.edu	37	12	57843728	57843728	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57843728C>T	uc001snv.1	+	1	1109	c.982C>T	c.(982-984)Ctc>Ttc	p.L328F		NM_005538	NP_005529	P55103	INHBC_HUMAN	Homo sapiens inhibin, beta C (INHBC), mRNA.	328					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CCTGTCTCTGCTCTATTATGA	0.562000														166			36		0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162862277	162862277	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162862277T>G	uc002ubz.3	-	22	2591	c.2030A>C	c.(2029-2031)gAa>gCa	p.E677A	DPP4_uc010fpb.3_Missense_Mutation_p.E353A	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	677					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	AAGGTTGTCTTCTGGAGTTGG	0.318000														45			8		0	0	1	0	0
PLEKHO2	80301	broad.mit.edu	37	15	65157620	65157620	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65157620C>T	uc002anv.3	+	5	1140	c.1006C>T	c.(1006-1008)Cca>Tca	p.P336S	PLEKHO2_uc002anw.3_Missense_Mutation_p.P286S	NM_025201	NP_079477	Q8TD55	PKHO2_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 2 (PLEKHO2), transcript variant 1, mRNA.	336	Pro-rich.									NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						GCCACCTGCTCCAGGCACAGT	0.602000														125			30		0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75561174	75561174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75561174G>A	uc001jve.3	+	25	5681	c.5426G>A	c.(5425-5427)gGc>gAc	p.G1809D	KIAA0913_uc009xrl.3_Missense_Mutation_p.G1804D|KIAA0913_uc001jvj.3_Silent_p.G1773G|KIAA0913_uc001jvf.3_Missense_Mutation_p.G1622D|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.G1231D|KIAA0913_uc010qkr.2_Missense_Mutation_p.G1219D	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 1, mRNA.	1804							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					ACGCCCATGGGCATGATGCAG	0.587000														93			18		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70206614	70206614	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70206614A>G	uc001svp.3	+	8	1682	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	RAB3IP_uc001svm.3_Missense_Mutation_p.D396G|RAB3IP_uc001svn.3_Intron|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Intron|RAB3IP_uc001svs.3_Non-coding_Transcript|RAB3IP_uc001svt.3_Missense_Mutation_p.D190G	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	412					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding	p.G411V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			AAATTAGGGGACTCAAGCAAC	0.328000														82			12		0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41135381	41135381	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41135381C>T	uc002ooh.1	+	33	4798	c.4798C>T	c.(4798-4800)Cgc>Tgc	p.R1600C	LTBP4_uc002oog.1_Missense_Mutation_p.R1563C|LTBP4_uc002ooi.1_Missense_Mutation_p.R1533C|LTBP4_uc002ooj.1_Missense_Mutation_p.R474C|LTBP4_uc002ool.1_Missense_Mutation_p.R613C|LTBP4_uc010xvp.1_Missense_Mutation_p.R361C	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1601	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGCTCCTTCCGCTGCATCTG	0.706000														153			15		0	0	1	0	0
THOC7	80145	broad.mit.edu	37	3	63823667	63823667	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:63823667G>A	uc003dlt.4	-	3	468	c.337C>T	c.(337-339)Cga>Tga	p.R113*	C3orf49_uc003dls.4_Intron|THOC7_uc003dlu.4_Nonsense_Mutation_p.R50*	NM_025075	NP_079351	Q6I9Y2	THOC7_HUMAN	Homo sapiens THO complex 7 homolog (Drosophila) (THOC7), mRNA.	113	Interaction with NIF3L1.|Interaction with THOC5.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex|cytoplasm	RNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1)	4				BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218)		CGATTTTTTCGTATTCGTTTT	0.328000														97			15		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32030747	32030747	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32030747A>G	uc011axg.2	+	1	725	c.176A>G	c.(175-177)aAc>aGc	p.N59S	ZNF860_uc021wuv.1_Missense_Mutation_p.N59S	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						AACTACAGGAACCTGCATTCT	0.453000														100			18		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2124212	2124212	+	Silent	SNP	C	A	A	rs137854061		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2124212C>A	uc002con.3	+	21	2473	c.2367C>A	c.(2365-2367)gtC>gtA	p.V789V	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.V789V|TSC2_uc002coo.3_Silent_p.V789V|TSC2_uc010uvv.2_Silent_p.V752V|TSC2_uc010uvw.2_Silent_p.V740V|TSC2_uc002cop.3_Silent_p.V589V	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	789					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCGAGATGGTCTACTGCCTGG	0.652000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					101			17		1.45105e-14	1.70617e-14	1	1	0
DDIT4	54541	broad.mit.edu	37	10	74034579	74034579	+	Missense_Mutation	SNP	C	T	T	rs143474945	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74034579C>T	uc001jsx.1	+	2	534	c.332C>T	c.(331-333)tCt>tTt	p.S111F	FU270201_uc021pst.1_5'Flank|FU270202_uc021psu.1_5'Flank	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	Homo sapiens DNA-damage-inducible transcript 4 (DDIT4), mRNA.	111					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGGCTGGGCTCTCGACGCCCT	0.657000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		337			70		0	0	1	0	0
EAPP	55837	broad.mit.edu	37	14	34985588	34985588	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34985588A>G	uc001wsd.1	-	5	895	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	262					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		CTTCAGTGGAACATTCAGTGC	0.453000														273			11		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070950	62070950	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070950C>T	uc002yey.1	-	6	1104	c.927_splice	c.e6+1	p.A309_splice	KCNQ2_uc002yez.1_Splice_Site_p.A309_splice|KCNQ2_uc002yfa.1_Splice_Site_p.A309_splice|KCNQ2_uc002yfb.1_Splice_Site_p.A309_splice|KCNQ2_uc011aax.1_Splice_Site_p.A309_splice|KCNQ2_uc002yfc.1_Splice_Site_p.A309_splice	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	309					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GCTGGACTTACTGCAGGCAGC	0.642000														133			28		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143091949	143091949	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143091949A>G	uc003wcz.3	-	13	2391	c.2304T>C	c.(2302-2304)ttT>ttC	p.F768F		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	768	Protein kinase.					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)				GAGTCAGGCCAAAGTCAGACA	0.512000														110			12		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4841394	4841394	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4841394C>T	uc003snj.1	-	11	2905	c.2732G>A	c.(2731-2733)gGc>gAc	p.G911D	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Missense_Mutation_p.G416D|RADIL_uc011jwc.1_Missense_Mutation_p.G671D|RADIL_uc011jwd.1_Non-coding_Transcript|RADIL_uc003snh.1_Missense_Mutation_p.G207D	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	911	Pro-rich.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		AGGCTCAGGGCCAAGTGGAGT	0.716000														39			10		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490172	71490172	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490172G>A	uc003kbw.4	+	4	1231	c.990G>A	c.(988-990)gaG>gaA	p.E330E	MAP1B_uc010iyw.1_Silent_p.E347E|MAP1B_uc010iyx.1_Silent_p.E204E|MAP1B_uc010iyy.1_Silent_p.E204E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	330						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAATTGCAGAGCTCGAGGAAG	0.473000														102			23		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48676891	48676891	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48676891C>T	uc002irk.1	+	16	3733	c.3361C>T	c.(3361-3363)Cgg>Tgg	p.R1121W	CACNA1G_uc002iri.1_Missense_Mutation_p.R1121W|CACNA1G_uc002irj.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irl.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irm.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irn.1_Missense_Mutation_p.R1098W|CACNA1G_uc002iro.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irp.1_Missense_Mutation_p.R1121W|CACNA1G_uc002irq.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irr.1_Missense_Mutation_p.R1121W|CACNA1G_uc002irs.1_Missense_Mutation_p.R1121W|CACNA1G_uc002irt.1_Missense_Mutation_p.R1121W|CACNA1G_uc002iru.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irv.1_Missense_Mutation_p.R1121W|CACNA1G_uc002irw.1_Missense_Mutation_p.R1098W|CACNA1G_uc002irx.1_Missense_Mutation_p.R1034W|CACNA1G_uc002iry.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isg.1_Missense_Mutation_p.R1034W|CACNA1G_uc002ish.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isi.1_Missense_Mutation_p.R1011W|CACNA1G_uc002irz.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isa.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isd.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isb.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isc.1_Missense_Mutation_p.R1034W|CACNA1G_uc002ise.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isf.1_Missense_Mutation_p.R1034W|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1121					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCTGAAGCGGAGAAGCCC	0.687000														30			8		0	0	1	0	0
C6orf162	57150	broad.mit.edu	37	6	88046852	88046852	+	Missense_Mutation	SNP	C	T	T	rs138742161		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88046852C>T	uc003plp.1	+	2	192	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	C6orf162_uc021zck.1_Non-coding_Transcript|C6orf162_uc003plq.1_Missense_Mutation_p.R35C	NM_001042493	NP_065158	Q96KF7	CF162_HUMAN	Homo sapiens chromosome 6 open reading frame 162 (C6orf162), transcript variant 1, mRNA.	35						integral to membrane				kidney(1)|large_intestine(1)|lung(1)	3		all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0164)		AACCTTATTTCGTGCTGTGAA	0.433000														100			24		0	0	1	0	0
GLS	2744	broad.mit.edu	37	2	191769834	191769834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191769834G>A	uc002usf.2	+	5	1184	c.920G>A	c.(919-921)cGa>cAa	p.R307Q	GLS_uc002use.2_Missense_Mutation_p.R307Q	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	307					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATGTGCATCGATATGTTGGA	0.353000														50			11		0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6592198	6592198	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6592198A>G	uc003zkc.3	-	10	1620	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	476					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTTTTCATTGACTGTTTCATC	0.378000														81			21		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49942692	49942692	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49942692C>A	uc001ruh.1	+	7	1464	c.1204C>A	c.(1204-1206)Ctg>Atg	p.L402M	KCNH3_uc010smj.1_Missense_Mutation_p.L342M	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	402					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCTGCAGGAGCTGGCCCGCCG	0.692000														23			6		0.0215528	0.0217347	1	1	0
MIPOL1	145282	broad.mit.edu	37	14	37737973	37737973	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37737973A>G	uc001wud.3	+	6	1004	c.362A>G	c.(361-363)gAt>gGt	p.D121G	MIPOL1_uc010amr.2_Non-coding_Transcript|MIPOL1_uc001wub.4_Missense_Mutation_p.D90G|MIPOL1_uc010ams.3_Missense_Mutation_p.D121G|MIPOL1_uc001wuc.3_Missense_Mutation_p.D121G|MIPOL1_uc001wue.3_Missense_Mutation_p.D90G|MIPOL1_uc010amt.3_Intron	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	121										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AAAGAATTGGATATTCTCAGA	0.313000														104			10		0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27632740	27632740	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27632740C>T	uc009vst.2	+	15	2435	c.1900C>T	c.(1900-1902)Cgc>Tgc	p.R634C	WDTC1_uc001bno.3_Missense_Mutation_p.R633C|WDTC1_uc001bnp.1_Non-coding_Transcript|WDTC1_uc001bnq.3_Missense_Mutation_p.R312C	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	Homo sapiens WD and tetratricopeptide repeats 1 (WDTC1), mRNA.	634							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACCAGCGGCGCATGAATGC	0.612000														146			42		0	0	1	0	0
EME2	197342	broad.mit.edu	37	16	1825702	1825702	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1825702C>A	uc002cmq.1	+	5	949	c.949C>A	c.(949-951)Ctg>Atg	p.L317M	MRPS34_uc002cmo.3_5'Flank|MRPS34_uc021taj.1_5'Flank|EME2_uc010brw.1_Intron	NM_001010865	NP_001010865	A4GXA9	EME2_HUMAN	Homo sapiens essential meiotic endonuclease 1 homolog 2 (S. pombe) (EME2), mRNA.	266					DNA recombination|DNA repair	nucleus	DNA binding|endonuclease activity			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GATGCCAAGGCTGAAGGGGGG	0.607000								Direct reversal of damage;Homologous recombination						218			39		9.8876e-21	1.20929e-20	1	1	0
SLC35E2	9906	broad.mit.edu	37	1	1670364	1670364	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1670364A>G	uc001aia.2	-	2	878	c.455T>C	c.(454-456)aTg>aCg	p.M152T	SLC35E2B_uc001ahh.4_Intron|SLC35E2_uc001ahy.3_Missense_Mutation_p.M152T	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	Homo sapiens solute carrier family 35, member E2 (SLC35E2), transcript variant 1, mRNA.	152						integral to membrane				endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCTTTACCTCATCAGACCCAC	0.473000														32			4		0	0	1	0	0
SNX6	58533	broad.mit.edu	37	14	35036896	35036896	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35036896G>A	uc001wsf.1	-	12	1207	c.1199C>T	c.(1198-1200)gCa>gTa	p.A400V	SNX6_uc001wse.1_Missense_Mutation_p.A272V|SNX6_uc010tpm.1_Missense_Mutation_p.A276V	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	388					cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CACTACCTTTGCATGCTTCAG	0.289000														33			9		0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118247314	118247314	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118247314C>A	uc001psw.3	+	9	1611	c.1476C>A	c.(1474-1476)atC>atA	p.I492I	UBE4A_uc001psv.3_Silent_p.I499I	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	492					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)		CCTGTTTGATCCCAGCTGTGC	0.418000														132			28		4.87955e-14	5.71551e-14	1	1	0
BAG6	7917	broad.mit.edu	37	6	31609612	31609612	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31609612G>A	uc003nvg.4	-	15	2670	c.2356C>T	c.(2356-2358)Cga>Tga	p.R786*	BAG6_uc003nvf.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvi.4_Nonsense_Mutation_p.R780*|BAG6_uc003nvh.4_Nonsense_Mutation_p.R780*|BAG6_uc011dnw.2_Nonsense_Mutation_p.R780*|BAG6_uc011dnx.2_Nonsense_Mutation_p.R654*	NM_004639	NP_004630	P46379	BAG6_HUMAN	Homo sapiens BCL2-associated athanogene 6 (BAG6), transcript variant 1, mRNA.	786					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						AAGAAGGATCGCAGCTGGGGC	0.562000														219			42		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25672428	25672428	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25672428G>A	uc003grr.3	+	7	981	c.900G>A	c.(898-900)aaG>aaA	p.K300K	SLC34A2_uc003grs.3_Silent_p.K299K|SLC34A2_uc010iev.3_Silent_p.K299K	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	300					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GTCTTGTCAAGATTTGGTGCA	0.408000			T	ROS1	NSCLC									51			6		0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283976	99283976	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99283976G>T	uc003ppe.3	+	0	1397	c.1227G>T	c.(1225-1227)gaG>gaT	p.E409D		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	409					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GACAGAAAGAGAAAAGGATGA	0.627000														178			35		3.86903e-22	4.7636e-22	1	1	0
CHRNA9	55584	broad.mit.edu	37	4	40351187	40351187	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351187C>T	uc003gva.1	+	3	670	c.654C>T	c.(652-654)ggC>ggT	p.G218G		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	218					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTCCTATGGCTGCTGCTCTG	0.512000														434			95		0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54966712	54966712	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:54966712G>A	uc010igp.1	+	0	465	c.201G>A	c.(199-201)tcG>tcA	p.S67S	PDGFRA_uc003haa.3_Intron	NM_133267	NP_573574	Q9BZM3	GSX2_HUMAN	Homo sapiens GS homeobox 2 (GSX2), mRNA.	67						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)			GCGTCACTTCGCACCTGCACT	0.751000														39			9		0	0	1	0	0
RAB24	53917	broad.mit.edu	37	5	176729783	176729783	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176729783G>A	uc003mfv.3	-	3	604	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	RAB24_uc003mfw.3_Missense_Mutation_p.R79W|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.	79					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGCACCCCGATAGTAGATT	0.562000														207			38		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826709	93826709	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93826709C>T	uc001pep.2	+	12	2494	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	779	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATTGGATTGGCTCTCAGTACA	0.433000														214			46		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688612	3688612	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688612G>A	uc001lyf.3	-	3	817	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	CHRNA10_uc010qxt.2_Missense_Mutation_p.L43F|CHRNA10_uc010qxu.2_Missense_Mutation_p.L43F	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	249					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	AGCGAGATGAGCACGCAGGGC	0.697000														63			14		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92846382	92846382	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92846382A>G	uc001dot.2	+	11	1899	c.1790A>G	c.(1789-1791)gAc>gGc	p.D597G	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	597						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.E596*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAATGAAGACCTTGAAAGT	0.368000														108			10		0	0	1	0	0
PTPN21	11099	broad.mit.edu	37	14	88983472	88983472	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88983472A>G	uc001xwv.4	-	2	645	c.314T>C	c.(313-315)gTg>gCg	p.V105A	PTPN21_uc010twc.2_5'UTR|PTPN21_uc010atf.1_Missense_Mutation_p.V105A	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	105	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AACTGAAGGCACATAAAACAC	0.403000														77			11		0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75653521	75653521	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75653521G>A	uc002bah.3	-	11	1343	c.1326C>T	c.(1324-1326)acC>acT	p.T442T	MAN2C1_uc010bkk.3_Silent_p.T343T|MAN2C1_uc002baf.3_Silent_p.T442T|MAN2C1_uc002bag.3_Silent_p.T442T|MAN2C1_uc010umi.1_Silent_p.T224T			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	442					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						TGTTGGCCACGGTCTTCAGCA	0.657000														44			6		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19286192	19286192	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286192G>A	uc002gvn.3	+	5	2616	c.2230G>A	c.(2230-2232)Ggc>Agc	p.G744S	MAPK7_uc002gvo.3_Missense_Mutation_p.G605S|MAPK7_uc002gvq.3_Missense_Mutation_p.G744S|MAPK7_uc002gvp.3_Missense_Mutation_p.G744S|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	744	May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTACGGTGTTGGCTTTGACCT	0.577000														183			38		0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149677669	149677669	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149677669G>T	uc003lrv.2	-	1	1407	c.818C>A	c.(817-819)gCt>gAt	p.A273D		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	273						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTGCGCACAGCCTCATCCAT	0.597000														88			19		2.4624e-09	2.73094e-09	1	1	0
NYNRIN	57523	broad.mit.edu	37	14	24886379	24886379	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24886379G>A	uc001wpf.4	+	8	5742	c.5424G>A	c.(5422-5424)gcG>gcA	p.A1808A		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1808					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CTGACAAGGCGAGTGAAAAGG	0.582000														131			21		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25251355	25251355	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25251355C>T	uc003abg.2	+	6	784	c.627C>T	c.(625-627)tcC>tcT	p.S209S	SGSM1_uc010guu.1_Silent_p.S209S|SGSM1_uc003abh.2_Silent_p.S209S|SGSM1_uc003abj.2_Silent_p.S209S|SGSM1_uc003abi.1_Silent_p.S184S|SGSM1_uc003abf.2_Silent_p.S209S	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	209						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						TCCACAGCTCCCACGTGCGGC	0.622000														58			12		0	0	1	0	0
AP2A2	161	broad.mit.edu	37	11	1006544	1006544	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1006544T>G	uc001lst.2	+	16	2439	c.2226T>G	c.(2224-2226)ttT>ttG	p.F742L	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.F741L	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	741					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGTTTATCTTTTATGGTAATA	0.423000														95			20		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30713754	30713754	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30713754A>C	uc003ceo.3	+	3	1461	c.1079A>C	c.(1078-1080)cAc>cCc	p.H360P	TGFBR2_uc021wut.1_Missense_Mutation_p.H238P|TGFBR2_uc003cen.3_Missense_Mutation_p.H385P	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	360	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGGATTGCTCACCTCCACAGT	0.602000														367			72		0	0	1	0	0
PRPF38B	55119	broad.mit.edu	37	1	109241961	109241961	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109241961T>C	uc001dvv.4	+	5	1242	c.960T>C	c.(958-960)agT>agC	p.S320S	PRPF38B_uc001dvw.4_Silent_p.S209S|PRPF38B_uc010ouz.2_Silent_p.S123S	NM_018061	NP_060531	Q5VTL8	PR38B_HUMAN	Homo sapiens PRP38 pre-mRNA processing factor 38 (yeast) domain containing B (PRPF38B), transcript variant 1, mRNA.	320	Arg-rich.				RNA splicing|mRNA processing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GATCCCGAAGTATTGACCGGG	0.502000														151			19		0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177546611	177546611	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177546611C>T	uc003mik.1	+	1	274	c.27C>T	c.(25-27)ggC>ggT	p.G9G	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	9						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCTGCTGGCATTGCCATGG	0.652000														182			53		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216011418	216011418	+	Missense_Mutation	SNP	C	T	T	rs147267500		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216011418C>T	uc001hku.1	-	46	9673	c.9286G>A	c.(9286-9288)Gtg>Atg	p.V3096M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3096	Fibronectin type-III 17.				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)		TTGCTTTTCACGCAGGCATAT	0.373000										HNSCC(13;0.011)				150			29		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27282095	27282095	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27282095C>T	uc002rie.3	+	10	2129	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	AGBL5_uc002rid.3_Missense_Mutation_p.R638W|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	638					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTTGAGTCGGGCACGAAG	0.532000														283			70		0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29635428	29635428	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29635428C>T	uc003nnf.3	+	3	788	c.559C>T	c.(559-561)Cga>Tga	p.R187*	MOG_uc003nmy.2_Nonsense_Mutation_p.R187*|MOG_uc003nna.3_Nonsense_Mutation_p.R71*|MOG_uc011dlt.2_Nonsense_Mutation_p.R117*|MOG_uc011dlv.2_Nonsense_Mutation_p.R71*|MOG_uc011dlu.2_Nonsense_Mutation_p.R71*|MOG_uc003nne.3_Nonsense_Mutation_p.R187*|MOG_uc003nng.3_Nonsense_Mutation_p.R187*|MOG_uc003nni.3_Nonsense_Mutation_p.R187*|MOG_uc003nnh.3_Nonsense_Mutation_p.R187*|MOG_uc003nnj.3_Nonsense_Mutation_p.R187*|MOG_uc003nnk.3_Nonsense_Mutation_p.R187*	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	187					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGAAAACTTCGAGCAGAGAT	0.507000														159			16		0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107126802	107126802	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:107126802G>A	uc001tlt.3	+	14	1739	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Silent_p.V524V|RFX4_uc001tls.3_Silent_p.V533V|RFX4_uc001tlv.3_Silent_p.V430V	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	524					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTGGAAGTGCCACCTCCCT	0.502000														187			43		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10572664	10572664	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10572664G>A	uc002moj.2	+	12	1840	c.1732G>A	c.(1732-1734)Gac>Aac	p.D578N	PDE4A_uc021uow.1_Missense_Mutation_p.D556N|PDE4A_uc002mok.2_Missense_Mutation_p.D552N|PDE4A_uc002mol.2_Missense_Mutation_p.D517N|PDE4A_uc002mom.2_Missense_Mutation_p.D339N|PDE4A_uc002moo.2_Missense_Mutation_p.D244N	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	578	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	TAACTACTCCGACCGCATCCA	0.587000														216			37		0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2048485	2048485	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048485C>T	uc002cof.1	-	13	2478	c.2463G>A	c.(2461-2463)acG>acA	p.T821T	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Silent_p.T185T	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	821						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GCTGCTTGGCCGTGTCGGGCA	0.582000														123			36		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139544	56139544	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139544C>T	uc002xyn.4	+	7	1356	c.1193C>T	c.(1192-1194)cCt>cTt	p.P398L	PCK1_uc010zzm.2_Missense_Mutation_p.P81L	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	398					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			ATAGGGGAACCTTGTGCCCAC	0.597000														164			37		0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73675536	73675536	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73675536C>T	uc002sje.1	+	7	1990	c.1879C>T	c.(1879-1881)Cct>Tct	p.P627S	ALMS1_uc002sjf.1_Missense_Mutation_p.P585S|ALMS1_uc002sjg.3_Missense_Mutation_p.P15S|ALMS1_uc002sjh.1_Missense_Mutation_p.P15S	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	627	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TAGAGAGAAGCCTGGTACTTT	0.473000														217			59		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33261663	33261663	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261663G>A	uc001zhf.4	-	3	1570	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	747	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGAAATGCCCGAAGTTCAAAC	0.398000														179			11		0	0	1	0	0
DNAAF1	123872	broad.mit.edu	37	16	84199527	84199527	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84199527G>A	uc002fhl.4	+	6	1183	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	DNAAF1_uc010vnw.2_Silent_p.R82R	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	334					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						CAGAGGAGAGGAAAAGACAGA	0.532000														195			64		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004176	187004176	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187004176G>T	uc003iyq.3	+	3	1437	c.1336G>T	c.(1336-1338)Gaa>Taa	p.E446*	TLR3_uc011ckz.2_Nonsense_Mutation_p.E169*|TLR3_uc003iyr.3_Nonsense_Mutation_p.E169*	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	446					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|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 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.E446*(2)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AATTGGGCAAGAACTCACAGG	0.423000														101			15		7.93312e-07	8.47869e-07	1	1	0
MAP4K1	11184	broad.mit.edu	37	19	39090764	39090764	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39090764C>T	uc002oix.1	-	20	1669	c.1561G>A	c.(1561-1563)Ggc>Agc	p.G521S	MAP4K1_uc002oiy.1_Missense_Mutation_p.G521S|MAP4K1_uc010xug.2_Missense_Mutation_p.G183S	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	521	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATGAAGATGCCTTCCTCTGCC	0.632000														98			21		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71364628	71364628	+	Silent	SNP	G	T	T	rs146100082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71364628G>T	uc010dfm.3	-	36	5085	c.5085C>A	c.(5083-5085)gcC>gcA	p.A1695A	SDK2_uc002jjt.4_Silent_p.A835A|SDK2_uc010dfn.2_Silent_p.A1374A	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1695	Fibronectin type-III 11.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGACCATGTAGGCCGTGTAGC	0.632000														41			4		0.150653	0.151008	1	1	0
ANO3	63982	broad.mit.edu	37	11	26463513	26463513	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26463513C>T	uc001mqt.4	+	1	240	c.95C>T	c.(94-96)cCg>cTg	p.P32L	ANO3_uc010rdr.2_Missense_Mutation_p.P16L	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	32						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGTTAAAACCGTCTCGGAGA	0.428000														226			52		0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49513315	49513315	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49513315G>T	uc002plr.1	+	7	668	c.655G>T	c.(655-657)Ggc>Tgc	p.G219C	RUVBL2_uc010yab.2_Missense_Mutation_p.G219C|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.G174C	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	219					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CGACGCTATGGGCTCCCAGGT	0.652000														90			25		7.92952e-12	9.07913e-12	1	1	0
TMEM39A	55254	broad.mit.edu	37	3	119171296	119171296	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119171296C>A	uc003eck.1	-	3	781	c.418G>T	c.(418-420)Gag>Tag	p.E140*	TMEM39A_uc003ecl.1_5'UTR	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	140						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		ACTGTTACCTCTGAGATGAGA	0.383000														55			5		2.0095e-06	2.13635e-06	1	1	0
TAAR1	134864	broad.mit.edu	37	6	132966836	132966836	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132966836C>T	uc003qdm.1	-	0	307	c.307G>A	c.(307-309)Gac>Aac	p.D103N		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	103						plasma membrane		p.D103N(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AGCATAATGTCGGTGCTTGTG	0.438000														85			16		0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116616583	116616583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:116616583C>T	uc003yny.3	-	3	2191	c.1613G>A	c.(1612-1614)tGt>tAt	p.C538Y	TRPS1_uc011lhy.2_Missense_Mutation_p.C529Y|TRPS1_uc003ynz.3_Missense_Mutation_p.C525Y|TRPS1_uc010mcy.3_Missense_Mutation_p.C525Y	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	525					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ACAGAACTGACAATTATAGCT	0.463000									Langer-Giedion syndrome					209			40		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746697	126746697	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:126746697G>A	uc003vlr.2	-	1	891	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Nonsense_Mutation_p.R194*|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_5'UTR	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	194				R -> A (in Ref. 1; AAB72040).	negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAACCACTCGAGAGAAAAAG	0.488000										HNSCC(24;0.065)				101			22		0	0	1	0	0
ZNF577	84765	broad.mit.edu	37	19	52376486	52376486	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52376486G>A	uc010yde.2	-	6	1148	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Missense_Mutation_p.R194W|ZNF577_uc002pxv.3_Missense_Mutation_p.R246W|ZNF577_uc002pxw.3_Missense_Mutation_p.R187W	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H253Y(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CGGCACTTCCGGCTGAAGGCT	0.498000														51			19		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85531680	85531680	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85531680C>A	uc001tac.3	+	18	4373	c.4262C>A	c.(4261-4263)gCt>gAt	p.A1421D		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1421	IQ 3.									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)		GCTCTAGAGGCTATTAAGAAT	0.308000														81			18		1.99824e-07	2.15697e-07	1	1	0
RUNX2	860	broad.mit.edu	37	6	45514903	45514903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45514903C>T	uc011dvx.2	+	8	1637	c.1427C>T	c.(1426-1428)aCc>aTc	p.T476I	RUNX2_uc011dvy.2_Missense_Mutation_p.T454I|RUNX2_uc003oxt.3_Missense_Mutation_p.T462I	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	476	Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGCACCACCACCTCGAATGGC	0.507000														154			27		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531860	42531860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:42531860C>T	uc010dni.3	+	3	2851	c.2555C>T	c.(2554-2556)aCg>aTg	p.T852M		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	852						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)		AAGGAAATCACGCTGTCCCCT	0.562000									Schinzel-Giedion syndrome					96			13		0	0	1	0	0
SLFN12L	100506736	broad.mit.edu	37	17	33806674	33806674	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33806674G>T	uc002hjn.3	-	2	1356	c.642C>A	c.(640-642)gcC>gcA	p.A214A	SLFN12L_uc021tuy.1_Silent_p.A185A	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	217						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CATCAACACAGGCCCTTTTTG	0.388000														33			4		0.150653	0.151008	1	1	0
IRF6	3664	broad.mit.edu	37	1	209963951	209963951	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209963951A>G	uc001hhq.2	-	6	1253	c.949T>C	c.(949-951)Tgc>Cgc	p.C317R	IRF6_uc010psm.2_Missense_Mutation_p.C222R	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	317					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGCACTGGCACAGCCTGATG	0.512000										HNSCC(57;0.16)				132			21		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43590119	43590119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43590119C>T	uc003tid.1	+	26	4929	c.4324C>T	c.(4324-4326)Cgc>Tgc	p.R1442C	HECW1_uc011kbi.1_Missense_Mutation_p.R1408C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1442	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACATCGAGCGCATGGTGAA	0.587000														39			8		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183689433	183689433	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183689433T>A	uc003fmg.3	-	10	1844	c.1679A>T	c.(1678-1680)gAa>gTa	p.E560V	ABCC5_uc011bqt.2_Missense_Mutation_p.E88V|ABCC5_uc010hxl.3_Missense_Mutation_p.E560V	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	560						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTCCTCTTCGGGACTGGG	0.607000														179			35		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28497272	28497272	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28497272G>T	uc003nll.2	+	1	134	c.132G>T	c.(130-132)gaG>gaT	p.E44D	GPX5_uc003nlm.2_Missense_Mutation_p.E44D|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	44					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	ATGACTATGAGGCCATCGCAC	0.433000														101			18		0.000566183	0.000582251	1	1	0
SLC20A1	6574	broad.mit.edu	37	2	113416903	113416903	+	Missense_Mutation	SNP	C	A	A	rs11552050		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416903C>A	uc002tib.3	+	7	1710	c.1171C>A	c.(1171-1173)Cta>Ata	p.L391I	SLC20A1_uc002tic.1_Missense_Mutation_p.L203I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	391					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTACAAAGAGCTACTCCATAA	0.478000														181			37		1.66425e-11	1.89714e-11	1	1	0
NFATC1	4772	broad.mit.edu	37	18	77246678	77246678	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77246678G>A	uc010xfg.2	+	8	2976	c.2523G>A	c.(2521-2523)tcG>tcA	p.S841S	NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.S369S|NFATC1_uc002lnf.3_Silent_p.S828S|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	841	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TCGAACACTCGCTCTGCCCCA	0.751000														68			18		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30350152	30350152	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30350152G>T	uc002kxm.1	-	1	791	c.403C>A	c.(403-405)Ctg>Atg	p.L135M		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	135	BTB.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						ACCAGGCGCAGCCCGATGGAC	0.657000														307			63		2.45258e-51	3.13063e-51	1	1	0
TTI1	9675	broad.mit.edu	37	20	36640284	36640284	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640284G>T	uc002xhl.3	-	2	2144	c.1935C>A	c.(1933-1935)ttC>ttA	p.F645L	TTI1_uc002xhm.3_Missense_Mutation_p.F645L	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	645							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGAGCAAACAGAAGTCTTTTC	0.458000														162			34		5.8336e-16	6.9331e-16	1	1	0
OSBPL2	9885	broad.mit.edu	37	20	60864297	60864297	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60864297A>G	uc002yck.1	+	11	1362	c.1160A>G	c.(1159-1161)aAc>aGc	p.N387S	OSBPL2_uc002ycl.1_Missense_Mutation_p.N375S|OSBPL2_uc011aah.1_Intron	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	387					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GTGAGCCTCAACGAGCTGGAG	0.582000														57			10		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20872901	20872901	+	Missense_Mutation	SNP	C	T	T	rs144854568		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20872901C>T	uc001vxe.3	-	4	941	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Intron	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	301	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACATTCCGGACGTTCAGCTGC	0.537000														95			25		0	0	1	0	0
LAMC3	10319	broad.mit.edu	37	9	133961019	133961019	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133961019C>T	uc004caa.1	+	24	4237	c.4139C>T	c.(4138-4140)gCg>gTg	p.A1380V	LAMC3_uc010mze.1_Missense_Mutation_p.A68V	NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1380	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity	p.A1380V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCAAGCAGGCGGAGAGGATG	0.597000														124			23		0	0	1	0	0
OR13C8	138802	broad.mit.edu	37	9	107332160	107332160	+	Missense_Mutation	SNP	T	G	G	rs150811269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107332160T>G	uc011lvo.2	+	0	712	c.712T>G	c.(712-714)Ttc>Gtc	p.F238V		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ACATAAGGCCTTCTCCACCTG	0.413000														102			22		0	0	1	0	0
SNX31	169166	broad.mit.edu	37	8	101624274	101624274	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101624274G>T	uc003yjr.3	-	6	716	c.565C>A	c.(565-567)Ctt>Att	p.L189I	SNX31_uc011lha.2_5'UTR|SNX31_uc011lhb.2_Missense_Mutation_p.L90I	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	189					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			GAACTTCCAAGACTAACATAA	0.438000														92			17		1.33834e-09	1.48855e-09	1	1	0
STXBP5	134957	broad.mit.edu	37	6	147560343	147560343	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147560343A>G	uc003qlz.3	+	3	543	c.368A>G	c.(367-369)cAc>cGc	p.H123R	STXBP5_uc010khz.2_Missense_Mutation_p.H123R|STXBP5_uc003qly.3_5'UTR	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	123					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GACACCTTACACTTATGGAAT	0.348000														87			22		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15065121	15065121	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15065121G>A	uc002naa.1	-	6	1197	c.1190C>T	c.(1189-1191)aCc>aTc	p.T397I	SLC1A6_uc010dzu.1_Missense_Mutation_p.T319I|SLC1A6_uc010xod.1_Missense_Mutation_p.T333I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	397					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCAGCGGAAGGTGATGGGCAG	0.692000														187			51		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357475	40357475	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357475C>T	uc002omp.4	-	33	15846	c.15838G>A	c.(15838-15840)Gaa>Aaa	p.E5280K		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5280	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ATCTGGACTTCGGCAACTACA	0.577000														101			23		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329784	88329784	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329784A>G	uc001vln.3	+	1	2360	c.2141A>G	c.(2140-2142)tAc>tGc	p.Y714C	SLITRK5_uc010tic.1_Missense_Mutation_p.Y473C|SLITRK5_uc021rlc.1_Missense_Mutation_p.Y714C	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	714						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					AACATGCAGTACAGCGTGTAC	0.682000														217			10		0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43507638	43507638	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43507638G>T	uc010dal.3	-	3	1287	c.8C>A	c.(7-9)gCg>gAg	p.A3E	ARHGAP27_uc021tyk.1_Missense_Mutation_p.A3E	NM_174919	NP_777579	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 3, mRNA.	3					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCACGTCCGCCGCCATCGC	0.692000														20			8		0.00829132	0.00840732	1	1	0
ROBO2	6092	broad.mit.edu	37	3	77645811	77645811	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77645811C>T	uc011bgk.2	+	19	3419	c.2776C>T	c.(2776-2778)Cca>Tca	p.P926S	ROBO2_uc021xat.1_Missense_Mutation_p.P938S|ROBO2_uc003dpy.4_Missense_Mutation_p.P922S|ROBO2_uc003dpz.3_Missense_Mutation_p.P926S|ROBO2_uc011bgj.2_Non-coding_Transcript|ROBO2_uc003dqa.3_Missense_Mutation_p.P49S	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	922					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCCAGCTATCCATGGCTTGC	0.458000														175			33		0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30696771	30696771	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30696771G>A	uc010csz.3	+	12	1834	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	ZNF207_uc002hhj.4_Missense_Mutation_p.R493H|ZNF207_uc002hhh.4_Missense_Mutation_p.R477H|ZNF207_uc002hhi.4_Missense_Mutation_p.R462H|ZNF207_uc002hhk.1_Intron|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	477						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R477L(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			CAAGGTGGCCGTTACTGATCT	0.507000														92			12		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161161259	161161259	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161161259G>A	uc001fyt.4	-	8	2611	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V		NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	728	Spacer.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGCTTCAGGGCCAAGTAGAT	0.597000														175			44		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145640153	145640153	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145640153G>T	uc003zcq.3	-	4	1032	c.932C>A	c.(931-933)tCc>tAc	p.S311Y	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_Missense_Mutation_p.S35Y|SLC39A4_uc003zcp.3_Missense_Mutation_p.S286Y	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	311						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CCTGGACTGGGAGGTGCAGGC	0.657000														191			35		6.05902e-23	7.48453e-23	1	1	0
SLC9C2	284525	broad.mit.edu	37	1	173486780	173486780	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173486780C>A	uc001giz.2	-	22	3226	c.2803G>T	c.(2803-2805)Gac>Tac	p.D935Y	SLC9C2_uc009wwe.2_Missense_Mutation_p.D493Y	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	Homo sapiens solute carrier family 9, member 11 (SLC9A11), mRNA.	935					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GTAAACATGTCTCTGGACCCT	0.393000														166			16		4.14922e-12	4.76557e-12	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27803149	27803149	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803149G>A	uc002rkz.4	+	0	3761	c.3710G>A	c.(3709-3711)cGc>cAc	p.R1237H	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1237										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CGAGGACAACGCAGCAGGCCT	0.478000														227			43		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011441	31011441	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011441G>T	uc003aip.2	+	4	983	c.734G>T	c.(733-735)aGc>aTc	p.S245I	TCN2_uc003air.2_Missense_Mutation_p.S218I	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	245					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTCTACAGCACCCCATTG	0.597000														107			12		3.07112e-06	3.25591e-06	1	1	0
KIF14	9928	broad.mit.edu	37	1	200524583	200524583	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200524583C>T	uc010ppk.1	-	28	4793	c.4354_splice	c.e28-1	p.V1452_splice	KIF14_uc010ppj.1_Splice_Site_p.V961_splice	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1452	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						CTTTGGTAACCTATAGAGAAT	0.269000														36			11		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25008755	25008755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25008755G>A	uc001upl.3	-	30	4630	c.4524C>T	c.(4522-4524)ctC>ctT	p.L1508L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1508					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GACTTCCTTCGAGACTGCCTA	0.443000														117			19		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6626806	6626806	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6626806G>T	uc001qoo.2	+	11	1411	c.1365G>T	c.(1363-1365)caG>caT	p.Q455H	NCAPD2_uc009zen.1_Missense_Mutation_p.Q327H|NCAPD2_uc010sfd.1_Missense_Mutation_p.Q410H	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	455	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGAGACCCAGAAATTACAAG	0.478000														94			23		1.96895e-08	2.15575e-08	1	1	0
CCDC141	285025	broad.mit.edu	37	2	179701780	179701780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701780C>T	uc002une.2	-	22	4284	c.4166G>A	c.(4165-4167)cGa>cAa	p.R1389Q	CCDC141_uc002unf.1_Missense_Mutation_p.R868Q	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	814							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATCTCTTCTCGAGGAACCAT	0.498000														57			24		0	0	1	0	0
FERMT2	10979	broad.mit.edu	37	14	53348188	53348188	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53348188C>A	uc001xac.3	-	5	713	c.527_splice	c.e5-1	p.G176_splice	FERMT2_uc001xad.3_Splice_Site_p.G176_splice|FERMT2_uc001xae.3_Splice_Site_p.G176_splice|FERMT2_uc001xaf.3_Splice_Site_p.G176_splice	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	176					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TATATACTTCCTAATAAGTAA	0.353000														143			11		3.07112e-06	3.25591e-06	1	1	0
VCPIP1	80124	broad.mit.edu	37	8	67578482	67578482	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67578482A>C	uc003xwn.3	-	0	971	c.712T>G	c.(712-714)Tta>Gta	p.L238V	SGK3_uc003xwp.3_5'Flank|C8orf44_uc003xwo.2_5'Flank	NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	238	OTU.				protein ubiquitination	Golgi stack|endoplasmic reticulum	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TTCTCTCTTAAGGCATGCCAG	0.512000														121			26		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882946	228882946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228882946G>A	uc002vpq.2	-	6	2671	c.2624C>T	c.(2623-2625)gCt>gTt	p.A875V	SPHKAP_uc002vpp.2_Missense_Mutation_p.A875V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A875V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	875						cytoplasm	protein binding	p.A875D(3)		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)		ACTCTCCTCAGCCTCCTGGGA	0.507000														333			73		0	0	1	0	0
CNDP2	55748	broad.mit.edu	37	18	72187265	72187265	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72187265G>A	uc002llm.2	+	11	1649	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	CNDP2_uc002lln.2_Missense_Mutation_p.A380T	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	464						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CAAGATGCTGGCCGCGTACCT	0.547000														81			15		0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124456949	124456949	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124456949C>T	uc003ehl.4	+	2	951	c.845C>T	c.(844-846)aCt>aTt	p.T282I	UMPS_uc011bkb.2_Missense_Mutation_p.T190I|UMPS_uc003ehn.4_Missense_Mutation_p.T104I|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Missense_Mutation_p.T104I|UMPS_uc011bkc.2_Missense_Mutation_p.T104I|UMPS_uc011bkd.2_Missense_Mutation_p.T104I	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	282	OMPdecase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATGCTGAAGACTCATGTAGAT	0.413000														143			20		0	0	1	0	0
SLC7A4	6545	broad.mit.edu	37	22	21385522	21385522	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21385522G>T	uc002zud.3	-	1	648	c.580C>A	c.(580-582)Ctc>Atc	p.L194I	SLC7A4_uc002zue.3_Missense_Mutation_p.L194I	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	194					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTGTGATTGAGCCAGGAGGAC	0.612000														104			30		2.4375e-19	2.95902e-19	1	1	0
RBPJ	3516	broad.mit.edu	37	4	26430396	26430396	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26430396T>G	uc003grx.2	+	8	1077	c.841T>G	c.(841-843)Tca>Gca	p.S281A	RBPJ_uc003gry.2_Missense_Mutation_p.S266A|RBPJ_uc003grz.2_Missense_Mutation_p.S281A|RBPJ_uc011bxt.2_Missense_Mutation_p.S281A|RBPJ_uc003gsa.2_Missense_Mutation_p.S267A|RBPJ_uc003gsb.2_Missense_Mutation_p.S268A	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	281					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	p.E280G(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TGATCCTGTGTCACAACTCCA	0.313000														37			11		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44148732	44148732	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44148732G>A	uc003owt.1	+	17	1905	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N	CAPN11_uc011dvn.2_Missense_Mutation_p.D277N	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	623	Domain IV.|EF-hand 1.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	p.M622L(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAACCTCATGGATGTATCCTC	0.592000														359			76		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44833535	44833535	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44833535T>G	uc010xwy.2	-	4	962	c.844A>C	c.(844-846)Aaa>Caa	p.K282Q	ZFP112_uc010ejj.3_Missense_Mutation_p.K265Q|ZFP112_uc002ozc.4_Missense_Mutation_p.K259Q|ZFP112_uc010xwz.2_Missense_Mutation_p.K264Q	NM_013380	NP_037512	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 112 homolog (mouse) (ZFP112), transcript variant 2, mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CTGAAGGCTTTTCTATACCCA	0.433000														108			31		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25937132	25937132	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25937132C>T	uc010crg.3	+	17	2362	c.1917C>T	c.(1915-1917)tgC>tgT	p.C639C	KSR1_uc002gzm.3_Silent_p.C419C|KSR1_uc002gzn.3_5'UTR	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	775	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACTGGCTGTGCTATCTGGCCC	0.577000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		206			39		0	0	1	0	0
RAP2A	5911	broad.mit.edu	37	13	98086853	98086853	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98086853G>A	uc001vnd.3	+	0	379	c.129G>A	c.(127-129)gaG>gaA	p.E43E		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	43					Rap protein signal transduction|actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|regulation of JNK cascade|regulation of dendrite morphogenesis	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			ACCGCAAGGAGATCGAGGTGG	0.627000														268			53		0	0	1	0	0
GNRH1	2796	broad.mit.edu	37	8	25280756	25280756	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25280756G>A	uc003xem.4	-	1	932	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	DOCK5_uc003xek.3_Intron|GNRH1_uc003xen.4_Missense_Mutation_p.R31C	NM_001083111	NP_001076580	P01148	GON1_HUMAN	Homo sapiens gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) (GNRH1), transcript variant 2, mRNA.	31					cell-cell signaling|multicellular organismal development|negative regulation of cell proliferation|signal transduction	soluble fraction	gonadotropin hormone-releasing hormone activity			large_intestine(1)	1		all_cancers(63;0.0423)|Ovarian(32;0.000626)|all_epithelial(46;0.0186)|Hepatocellular(4;0.114)|Breast(100;0.14)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0201)|Epithelial(17;1.25e-12)|Colorectal(74;0.0113)|COAD - Colon adenocarcinoma(73;0.0385)		CCTCCAGGGCGCAGTCCATAG	0.433000														182			9		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49075897	49075897	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49075897C>T	uc002itc.3	-	14	1955	c.1746G>A	c.(1744-1746)acG>acA	p.T582T	SPAG9_uc002itd.3_Silent_p.T572T|SPAG9_uc002itb.3_Silent_p.T568T|SPAG9_uc002itf.3_Silent_p.T403T|SPAG9_uc002ita.3_Silent_p.T425T|SPAG9_uc002ite.3_Silent_p.T412T	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	582					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TAACATGAGACGTGGGTGCAT	0.443000														85			17		0	0	1	0	0
ZNF665	79788	broad.mit.edu	37	19	53669537	53669537	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53669537G>A	uc010eqm.1	-	3	306	c.206C>T	c.(205-207)gCg>gTg	p.A69V		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	4					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CGTGTAGAACGCTTCTCCCAT	0.408000														318			20		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495076	71495076	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495076G>T	uc003kbw.4	+	4	6135	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I	MAP1B_uc010iyw.1_Missense_Mutation_p.S1982I|MAP1B_uc010iyx.1_Missense_Mutation_p.S1839I|MAP1B_uc010iyy.1_Missense_Mutation_p.S1839I	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1965						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AAGACCACCAGCCCCCCCGAA	0.483000														160			38		6.97489e-18	8.39457e-18	1	1	0
RBM19	9904	broad.mit.edu	37	12	114377943	114377943	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:114377943G>A	uc009zwi.2	-	14	1904	c.1760C>T	c.(1759-1761)aCt>aTt	p.T587I	RBM19_uc001tvn.4_Missense_Mutation_p.T587I|RBM19_uc001tvm.3_Missense_Mutation_p.T587I	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	587	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGAATCACAGTCTTGCTTCG	0.637000														322			28		0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179615	33179615	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33179615C>T	uc003odk.3	+	5	1149	c.955C>T	c.(955-957)Cct>Tct	p.P319S	RING1_uc003odl.3_Missense_Mutation_p.P290S	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	319	Gly-rich.|Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCAGGAGGGCCTGGAGGGGG	0.672000														117			27		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424997	1424997	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1424997G>T	uc003boz.3	+	18	2689	c.2422G>T	c.(2422-2424)Gga>Tga	p.G808*	CNTN6_uc011asj.2_Nonsense_Mutation_p.G736*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.G808*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	808	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GGCCCCAAGGGGAACTTCTCT	0.433000														248			54		2.48254e-18	2.99813e-18	1	1	0
KCNJ18	100134444	broad.mit.edu	37	17	21319408	21319408	+	Missense_Mutation	SNP	G	A	A	rs145578286	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21319408G>A	uc021tss.1	+	2	1124	c.754G>A	c.(754-756)Gat>Aat	p.D252N	KCNJ18_uc002gyv.1_Missense_Mutation_p.D252N|KCNJ18_uc021tst.1_Missense_Mutation_p.D252N	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	252						integral to membrane	inward rectifier potassium channel activity										GATCGACATCGATGTGGGCTT	0.627000														180			23		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47163380	47163380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47163380C>T	uc003gxh.3	+	3	729	c.355C>T	c.(355-357)Cca>Tca	p.P119S	GABRB1_uc011bze.2_Missense_Mutation_p.P49S	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	119					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACTCTGGGTACCAGACACCTA	0.438000														185			36		0	0	1	0	0
MARS2	92935	broad.mit.edu	37	2	198570573	198570573	+	Silent	SNP	G	A	A	rs138238210		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198570573G>A	uc002uuq.3	+	0	546	c.444G>A	c.(442-444)caG>caA	p.Q148Q	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	148					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TGGCTGTGCAGCACTTCTGGG	0.607000														165			61		0	0	1	0	0
TRAF2	7186	broad.mit.edu	37	9	139802654	139802654	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139802654C>T	uc004cjv.3	+	4	556	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	TRAF2_uc010nbu.3_Missense_Mutation_p.R167W|TRAF2_uc010nbv.1_Missense_Mutation_p.R219W|TRAF2_uc011mek.2_Missense_Mutation_p.R156W|TRAF2_uc010nbw.3_Missense_Mutation_p.R167W	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	167					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCGGCATTGCCGGGCACCCTG	0.682000														58			15		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139914880	139914880	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139914880G>A	uc004ckm.1	-	9	1470	c.1420C>T	c.(1420-1422)Cgg>Tgg	p.R474W	ABCA2_uc022bpy.1_Missense_Mutation_p.R375W|ABCA2_uc022bpz.1_Missense_Mutation_p.R445W|ABCA2_uc011mem.1_Missense_Mutation_p.R444W|ABCA2_uc004ckl.1_Missense_Mutation_p.R375W|ABCA2_uc004ckn.1_5'Flank|ABCA2_uc004cko.1_Missense_Mutation_p.R221W|ABCA2_uc010nca.3_Missense_Mutation_p.R375W	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	444					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCCAGGTTCCGCTGCTCCTTG	0.677000														155			29		0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23866093	23866093	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23866093C>A	uc002kvt.4	+	6	1709	c.1220C>A	c.(1219-1221)gCt>gAt	p.A407D	TAF4B_uc002kvu.4_Missense_Mutation_p.A407D|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	407					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			GGAGCAAAAGCTGGAGTTGTG	0.478000														116			19		1.67942e-08	1.84125e-08	1	1	0
TIFA	92610	broad.mit.edu	37	4	113199274	113199274	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199274C>T	uc003ial.3	-	1	581	c.299G>A	c.(298-300)aGc>aAc	p.S100N	TIFA_uc021xqt.1_Missense_Mutation_p.S100N	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain (TIFA), mRNA.	100	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		CAGCTCTCTGCTGTCCACGAT	0.418000														69			16		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152658135	152658135	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152658135G>A	uc021zhb.1	-	73	12592	c.12369C>T	c.(12367-12369)gtC>gtT	p.V4123V	SYNE1_uc003qot.4_Silent_p.V4052V|SYNE1_uc003qou.4_Silent_p.V4123V|SYNE1_uc010kja.2_Silent_p.V828V|SYNE1_uc010kiz.3_5'Flank	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4123					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGGGCCTGGACAAGCTTTT	0.423000										HNSCC(10;0.0054)				61			16		0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533830	179533830	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179533830C>T	uc001gmq.4	-	1	458	c.373G>A	c.(373-375)Gta>Ata	p.V125I	NPHS2_uc009wxi.3_Missense_Mutation_p.V125I	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	125					excretion	integral to plasma membrane	protein binding	p.V125L(2)		NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACCTTTACGCAGAACCAG	0.478000														64			16		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363197	47363197	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363197C>T	uc002leb.2	-	37	5485	c.5197G>A	c.(5197-5199)Gca>Aca	p.A1733T	MYO5B_uc002ldz.3_Missense_Mutation_p.A303T|MYO5B_uc002lea.2_Missense_Mutation_p.A848T	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1733	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GTCTGAACTGCTCCACTCTGG	0.507000														68			6		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77789563	77789563	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77789563C>T	uc003ugx.3	-	15	2878	c.2624G>A	c.(2623-2625)aGt>aAt	p.S875N	MAGI2_uc003ugy.3_Missense_Mutation_p.S861N|MAGI2_uc010ldx.1_Missense_Mutation_p.S468N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	875						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGAGCCTGGACTTCTCCCGTT	0.537000														109			22		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111603040	111603040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111603040G>A	uc010hqa.3	+	1	527	c.116G>A	c.(115-117)aGc>aAc	p.S39N	PHLDB2_uc003dyc.3_Missense_Mutation_p.S66N|PHLDB2_uc003dyd.3_Missense_Mutation_p.S39N|PHLDB2_uc003dyg.3_Missense_Mutation_p.S39N|PHLDB2_uc003dyh.3_Missense_Mutation_p.S39N|PHLDB2_uc003dye.4_Missense_Mutation_p.S39N|PHLDB2_uc003dyf.4_Missense_Mutation_p.S39N	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	39						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGAGCCTCAGCCCAAAGAAA	0.433000														207			40		0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861515	34861515	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34861515G>T	uc021wim.1	-	0	186	c.186C>A	c.(184-186)tgC>tgA	p.C62*	DNAJC28_uc002yrv.3_Nonsense_Mutation_p.C62*|DNAJC28_uc002yrw.3_Nonsense_Mutation_p.C62*	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	62	J.						heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CATCTGCAGAGCATCCTTCCT	0.373000														165			12		9.31168e-06	9.81217e-06	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186672574	186672574	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186672574G>T	uc002upl.3	+	16	18808	c.18808G>T	c.(18808-18810)Gaa>Taa	p.E6270*	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CATAATAGAAGAAATTGCTGT	0.303000														52			10		0.000673444	0.000690401	1	1	0
SLC12A7	10723	broad.mit.edu	37	5	1052522	1052522	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1052522G>T	uc003jbu.3	-	23	3271	c.3205C>A	c.(3205-3207)Ctc>Atc	p.L1069I		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	1069					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	CTGACCAGGAGGACTCTGTTC	0.582000														241			25		3.28513e-13	3.82035e-13	1	1	0
abParts	0	broad.mit.edu	37	14	106368543	106368543	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106368543C>T	uc021ser.1	-	3570		c.55351_splice	c.e3570+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		AGTCTGACATCGCCTGACAAT	0.622000														79			16		0	0	1	0	0
ZNF491	126069	broad.mit.edu	37	19	11917376	11917376	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11917376G>A	uc002mso.1	+	2	893	c.608G>A	c.(607-609)cGc>cAc	p.R203H	ZNF491_uc021upj.1_Missense_Mutation_p.R203H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						AGTTCCTTTCGCAGACATGAA	0.438000														55			15		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636026	44636026	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636026G>T	uc002oyj.1	+	4	1502	c.1259G>T	c.(1258-1260)aGa>aTa	p.R420I	ZNF225_uc010ejf.1_Missense_Mutation_p.R420I	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				TCTCACCAGAGAGCGCACAGT	0.453000														151			39		4.62619e-21	5.66726e-21	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100523350	100523350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100523350G>A	uc003yiv.3	+	28	4429	c.4318G>A	c.(4318-4320)Gat>Aat	p.D1440N	VPS13B_uc003yiw.3_Missense_Mutation_p.D1415N|VPS13B_uc003yix.1_Missense_Mutation_p.D910N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1440					protein transport			p.D1440H(2)|p.D1415H(1)		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)			AAAACTTCTAGATGGCACTCA	0.348000														84			14		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159707577	159707577	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159707577A>G	uc003lyb.1	-	2	487	c.235T>C	c.(235-237)Tcc>Ccc	p.S79P	CCNJL_uc011dee.1_Missense_Mutation_p.S79P|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Missense_Mutation_p.S79P	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	79	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTGCTTGGAGGTGGTGACG	0.627000														195			10		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145849225	145849225	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145849225A>C	uc003lob.3	+	6	1357	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	TCERG1_uc003loc.3_Missense_Mutation_p.K418N|TCERG1_uc011dbt.2_Missense_Mutation_p.K418N	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	439	WW 2.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAATATAAAACAGCAGATG	0.393000														251			57		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39869088	39869088	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39869088C>T	uc003oow.3	+	23	2961	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	DAAM2_uc003oox.3_Missense_Mutation_p.A940V	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	941	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TTCGCCAAGGCCTTGATGCAC	0.562000														364			33		0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22225378	22225378	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22225378C>T	uc001mqi.2	+	1	386	c.69C>T	c.(67-69)taC>taT	p.Y23Y	ANO5_uc001mqj.2_Silent_p.Y23Y	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	23						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.Y23F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATATAGACTACTCTTTCCAAA	0.279000														31			3		0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10974869	10974869	+	Silent	SNP	C	A	A	rs139042454		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10974869C>A	uc003bvz.3	+	10	1438	c.1404C>A	c.(1402-1404)tcC>tcA	p.S468S		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	468					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TCTTTGACTCCTATGCCGCCA	0.592000														169			27		1.17739e-12	1.36172e-12	1	1	0
LOXL4	84171	broad.mit.edu	37	10	100021971	100021971	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100021971C>A	uc001kpa.1	-	3	429	c.278_splice	c.e3-1	p.G93_splice		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	93	SRCR 1.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		CAGATGGGTCCTGTGGAGTGG	0.572000														80			19		1.00905e-13	1.17906e-13	1	1	0
MID2	11043	broad.mit.edu	37	X	107167644	107167644	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107167644C>T	uc004enl.3	+	7	2080	c.1507C>T	c.(1507-1509)Ctc>Ttc	p.L503F	MID2_uc004enk.3_Missense_Mutation_p.L473F	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	503	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGCATGGACTCCAGAGCGG	0.458000														97			22		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723995	99723995	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99723995C>A	uc001yga.3	-	1	507	c.240G>T	c.(238-240)caG>caT	p.Q80H	BCL11B_uc001ygb.3_Missense_Mutation_p.Q80H	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	80						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGCCGCCACACTGCTTCCTTT	0.607000			T	TLX3	T-ALL									152			37		6.29468e-14	7.37188e-14	1	1	0
ZNF192	7745	broad.mit.edu	37	6	28120057	28120057	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28120057G>T	uc003nkn.1	+	4	854	c.670G>T	c.(670-672)Gac>Tac	p.D224Y	ZNF192_uc010jqx.1_Missense_Mutation_p.D224Y|ZNF192_uc010jqy.1_Missense_Mutation_p.D37Y|ZNF192_uc011dkz.1_Missense_Mutation_p.D37Y	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	224	KRAB.				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGATTGAAGACATGGCTGT	0.443000														121			13		9.05144e-12	1.03561e-11	1	1	0
PRR12	57479	broad.mit.edu	37	19	50099477	50099477	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50099477G>T	uc002poo.4	+	3	1885	c.1885G>T	c.(1885-1887)Ggt>Tgt	p.G629C		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	393	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGCGGGCCCAGGTGGGCCTCC	0.682000														79			17		7.05477e-17	8.4384e-17	1	1	0
KIAA0391	9692	broad.mit.edu	37	14	35735990	35735990	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35735990C>T	uc001wsy.1	+	5	1693	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	KIAA0391_uc010tps.1_Missense_Mutation_p.R350W|KIAA0391_uc001wsz.1_Missense_Mutation_p.R429W|KIAA0391_uc001wta.3_Non-coding_Transcript|KIAA0391_uc001wtc.1_Missense_Mutation_p.R73W	NM_014672	NP_055487	O15091	MRRP3_HUMAN	Homo sapiens KIAA0391 (KIAA0391), mRNA.	445					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		GGTCCTAGGCCGGAAGCACAT	0.478000														209			53		0	0	1	0	0
EGR1	1958	broad.mit.edu	37	5	137801568	137801568	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137801568C>A	uc003ldb.1	+	0	388	c.118C>A	c.(118-120)Ctg>Atg	p.L40M		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	40					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GGAGATGATGCTGCTGAGCAA	0.667000														197			55		6.60958e-23	8.16416e-23	1	1	0
SOX11	6664	broad.mit.edu	37	2	5833253	5833253	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5833253G>A	uc002qyj.3	+	0	455	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	134					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|enhancer sequence-specific DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		CAAGCCCAGCGCCAGCCAGAG	0.706000														58			11		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27447894	27447894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27447894G>A	uc002rji.3	+	10	1565	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	CAD_uc010eyw.3_Missense_Mutation_p.R468H	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	468	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.R468H(2)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CGTAATGAACGCCCCGATGGT	0.552000														108			15		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197390735	197390735	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197390735G>A	uc001gtz.3	+	5	1986	c.1777G>A	c.(1777-1779)Gcg>Acg	p.A593T	CRB1_uc010poz.2_Missense_Mutation_p.A524T|CRB1_uc009wza.3_Missense_Mutation_p.A481T|CRB1_uc010ppa.2_Intron|CRB1_uc010ppb.2_Missense_Mutation_p.A593T|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.2_Missense_Mutation_p.A74T|CRB1_uc001gub.1_Missense_Mutation_p.A242T	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	593	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.A593T(2)|p.I592M(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GAAATGCATCGCGAAAGCTCC	0.468000														223			19		0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73915865	73915865	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73915865C>T	uc002jqc.3	-	18	2251	c.1977G>A	c.(1975-1977)tcG>tcA	p.S659S	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.S650S|FBF1_uc002jqd.1_Silent_p.S660S|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_5'UTR	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	659										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTGGCACTGCGACAGATACC	0.627000														131			25		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73989008	73989008	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73989008C>A	uc021rwe.1	-	2	1197	c.849G>T	c.(847-849)aaG>aaT	p.K283N	HEATR4_uc021rwf.1_Missense_Mutation_p.K236N|HEATR4_uc010tub.1_Missense_Mutation_p.K283N	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTCTGGCTTCTTCTTTTCCT	0.532000														233			33		7.11191e-15	8.38269e-15	1	1	0
ITPKB	3707	broad.mit.edu	37	1	226835049	226835049	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835049G>T	uc010pvo.2	-	3	2405	c.2065C>A	c.(2065-2067)Ctg>Atg	p.L689M		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	689							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGCTTCTTCAGGATCCTGCCA	0.602000														75			8		1.12685e-05	1.18529e-05	1	1	0
MUC16	94025	broad.mit.edu	37	19	9000566	9000566	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9000566G>A	uc002mkp.3	-	54	40622	c.40418_splice	c.e54-1	p.T13473_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.T290_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13475					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						AGGGCTGGCGGCTATAGTGAA	0.393000														78			30		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7366455	7366455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7366455G>A	uc002ghc.4	-	3	2096	c.1846C>T	c.(1846-1848)Cgc>Tgc	p.R616C	ZBTB4_uc002ghd.4_Missense_Mutation_p.R616C	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	616	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		GAGATGCGGCGCTTGACGATG	0.647000														36			10		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214546067	214546067	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214546067A>G	uc001hkk.2	-	15	3676	c.3023T>C	c.(3022-3024)gTc>gCc	p.V1008A	PTPN14_uc021piy.1_Missense_Mutation_p.V772A	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	1008	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTCTGCAGTGACCATGGCAAT	0.572000														216			53		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156296174	156296174	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156296174C>T	uc003ios.3	-	3	340	c.76_splice	c.e3-1	p.D26_splice	MAP9_uc011cin.2_Splice_Site_p.D26_splice|MAP9_uc010iqa.1_Splice_Site|MAP9_uc003iot.1_Splice_Site_p.D26_splice|MAP9_uc010iqb.2_Splice_Site	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	26					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		TTAGCTCATCCTGAAATGAGA	0.368000														81			10		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122422767	122422767	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122422767G>A	uc003efq.4	+	6	3319	c.3260G>A	c.(3259-3261)cGc>cAc	p.R1087H	PARP14_uc021xdc.1_Missense_Mutation_p.R951H|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.R804H|PARP14_uc003efs.1_Missense_Mutation_p.R804H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1087	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTGGACTGTCGCTATGTGCTT	0.537000														164			41		0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279722	153279722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153279722C>T	uc001fbn.1	-	1	130	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	26					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCACTCCTTGCGGGAGACGAT	0.627000														42			4		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530451	245530451	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530451G>A	uc001ibf.1	+	2	1221	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	KIF26B_uc010pyq.1_Missense_Mutation_p.A261T|KIF26B_uc010pyr.2_Missense_Mutation_p.A61T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	261					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACAGGCTTCGCCAACAAGCA	0.662000														24			4		0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62064997	62064997	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62064997C>T	uc001ntd.1	-	1	243	c.189G>A	c.(187-189)aaG>aaA	p.K63K		NM_206998	NP_996881	Q6XE38	SG1D4_HUMAN	Homo sapiens secretoglobin, family 1D, member 4 (SCGB1D4), mRNA.	63						extracellular region	binding			lung(1)|prostate(1)	2						CGGTGCAGTGCTTCACTTCCA	0.428000														365			84		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	720210	720210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:720210C>T	uc003siu.2	-	2	464	c.331G>A	c.(331-333)Gtg>Atg	p.V111M	PRKAR1B_uc021zyi.1_Missense_Mutation_p.V111M|PRKAR1B_uc003siv.3_Missense_Mutation_p.V111M|PRKAR1B_uc021zyj.1_Missense_Mutation_p.V111M|PRKAR1B_uc021zyk.1_Missense_Mutation_p.V111M|PRKAR1B_uc003siw.2_Missense_Mutation_p.V111M	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	111	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		ACGTAGGACACGGCGTCCTCC	0.692000														105			23		0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4900560	4900560	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4900560C>T	uc003snk.3	-	0	1066	c.882G>A	c.(880-882)cgG>cgA	p.R294R	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	293					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		AATTAAGATTCCGTTCTTCAG	0.443000														146			33		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570077	136570077	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136570077C>T	uc002tuu.1	-	6	2168	c.2157G>A	c.(2155-2157)caG>caA	p.Q719Q		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	719	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.P718S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGATGAGGTCTGGGGCCACA	0.522000														130			14		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561444	11561444	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561444C>T	uc001ash.4	+	1	533	c.395C>T	c.(394-396)tCc>tTc	p.S132F	PTCHD2_uc001asi.1_Missense_Mutation_p.S132F	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	132					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGTTTGGATCCTGGGGGCGG	0.597000														77			26		0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113813025	113813025	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113813025C>T	uc001vta.1	+	0	58	c.51C>T	c.(49-51)ctC>ctT	p.L17L	PROZ_uc010agr.1_Silent_p.L17L	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	17					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCCTCGCCCTCCATCGTGTGG	0.602000														25			4		0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144508031	144508031	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144508031C>T	uc003qks.4	+	1	459	c.267C>T	c.(265-267)atC>atT	p.I89I	STX11_uc021zgk.1_Silent_p.I89I	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	89					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCAACTCCATCGCCAAGGCCA	0.677000									Familial Hemophagocytic Lymphohistiocytosis					108			22		0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229361	20229361	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20229361G>T	uc002nor.2	+	3	1137	c.998G>T	c.(997-999)aGa>aTa	p.R333I	ZNF90_uc021url.1_Intron	NM_007138	NP_009069	Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.	333						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						ACACATAAGAGAATCCATACT	0.408000														34			7		5.18039e-06	5.47662e-06	1	1	0
LONRF2	164832	broad.mit.edu	37	2	100903511	100903511	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100903511C>A	uc002tal.4	-	10	2575	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	645	Lon.				proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GTTCTTCATACTCTGGACCCT	0.488000														73			15		3.27435e-08	3.57295e-08	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26219522	26219522	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26219522G>A	uc003abz.1	+	12	2822	c.2572G>A	c.(2572-2574)Gcc>Acc	p.A858T	MYO18B_uc003aca.1_Missense_Mutation_p.A739T|MYO18B_uc010guy.1_Missense_Mutation_p.A739T|MYO18B_uc010guz.1_Missense_Mutation_p.A739T|MYO18B_uc011aka.1_Missense_Mutation_p.A12T|MYO18B_uc011akb.1_Missense_Mutation_p.A371T	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	858	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGCAGCTGAGGCCCTGGGCTG	0.587000														211			57		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114161660	114161660	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114161660A>G	uc003ibe.4	+	7	813	c.713A>G	c.(712-714)cAc>cGc	p.H238R	ANK2_uc003ibd.4_Missense_Mutation_p.H217R|ANK2_uc003ibf.4_Missense_Mutation_p.H238R|ANK2_uc003ibc.2_Missense_Mutation_p.H214R|ANK2_uc011cgb.1_Missense_Mutation_p.H253R	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	238					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCCCTTTGCACATAGCTGCA	0.433000														93			28		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22390718	22390718	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390718C>T	uc003gqm.1	-	17	2981	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	GPR125_uc010ieo.1_Missense_Mutation_p.A762T|GPR125_uc003gql.1_Missense_Mutation_p.A33T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	906					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.A906T(2)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTAGGGTGCGTTTGGCCGA	0.408000														333			31		0	0	1	0	0
OR4X2	119764	broad.mit.edu	37	11	48267073	48267073	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48267073G>T	uc001ngs.1	+	0	418	c.418G>T	c.(418-420)Gca>Tca	p.A140S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTAGGAATAGCATGGGTGGG	0.502000														209			48		1.00953e-15	1.19797e-15	1	1	0
ACSL3	2181	broad.mit.edu	37	2	223786120	223786120	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223786120G>T	uc002vni.3	+	7	1379	c.928G>T	c.(928-930)Ggg>Tgg	p.G310W	ACSL3_uc002vnj.3_Missense_Mutation_p.G310W	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	310					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TGGTATAACTGGGATGGCAGA	0.368000			T	ETV1	prostate									158			45		5.34276e-22	6.57361e-22	1	1	0
RAB2B	84932	broad.mit.edu	37	14	21931868	21931868	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21931868G>A	uc010tlt.2	-	5	522	c.421C>T	c.(421-423)Cat>Tat	p.H141Y	RAB2B_uc010tls.2_Missense_Mutation_p.H95Y|RAB2B_uc010ain.3_Missense_Mutation_p.H32Y|RAB2B_uc001wax.3_Missense_Mutation_p.H76Y	NM_032846	NP_001156852	Q8WUD1	RAB2B_HUMAN	Homo sapiens RAB2B, member RAS oncogene family (RAB2B), transcript variant 1, mRNA.	141					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|plasma membrane	GTP binding			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		ATAAGTCCATGCTCCCTAGCA	0.413000														102			32		0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612463	54612463	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:54612463C>T	uc022adk.1	+	1	633	c.228C>T	c.(226-228)gcC>gcT	p.A76A	VSTM2A_uc010kzf.3_Silent_p.A76A	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	76	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATCCCGGGGCCGAGGGGGCCG	0.736000														54			24		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13714488	13714488	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13714488A>C	uc002woj.3	-	10	1937	c.1829_splice	c.e10-1	p.G610_splice		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	610	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTTCTTTAAGACCTGAGGAAA	0.289000														83			13		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45064210	45064210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064210C>T	uc002zdi.3	-	3	583	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HSF2BP_uc011aey.2_Missense_Mutation_p.R9H	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	84					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GGTTTCCAGGCGGGCTTTAAA	0.458000														111			11		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21476977	21476977	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21476977G>A	uc002npq.1	-	3	989	c.791C>T	c.(790-792)tCc>tTc	p.S264F	ZNF708_uc002npr.1_Missense_Mutation_p.S200F|ZNF708_uc010ecs.1_Missense_Mutation_p.S200F	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AAGGTTTGAGGACCGGTTAAA	0.358000														62			8		0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14308063	14308063	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:14308063G>A	uc021war.1	-	0	90	c.90C>T	c.(88-90)tcC>tcT	p.S30S	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.S30S|FLRT3_uc002wow.2_Silent_p.S30S	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	30	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CAGATGGACAGGATTTAGCCA	0.478000														111			29		0	0	1	0	0
TGM5	9333	broad.mit.edu	37	15	43527084	43527084	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43527084C>T	uc001zrd.2	-	10	1766	c.1758G>A	c.(1756-1758)caG>caA	p.Q586Q	TGM5_uc001zrc.2_Silent_p.Q243Q|TGM5_uc001zre.2_Silent_p.Q504Q	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	586					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TTGACAGGTACTGGCTGTACT	0.473000														87			19		0	0	1	0	0
TUBB6	84617	broad.mit.edu	37	18	12325894	12325894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12325894G>A	uc002kqw.3	+	3	1141	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	TUBB6_uc002kqv.3_Missense_Mutation_p.G297D|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	369					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACCTTCATCGGCAACAGCACG	0.612000														451			113		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299523	62299523	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299523G>A	uc001ntl.3	-	4	2666	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	789					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCAGGAGCAGTAACATC	0.493000														298			55		0	0	1	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415505	213415505	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213415505G>T	uc010ptr.2	+	10	2845	c.2686G>T	c.(2686-2688)Gcc>Tcc	p.A896S	RPS6KC1_uc001hkd.3_Missense_Mutation_p.A884S|RPS6KC1_uc010pts.2_Missense_Mutation_p.A684S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.A684S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.A715S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.A431S|RPS6KC1_uc001hke.3_Missense_Mutation_p.A715S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	896	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ATTAGCACTAGCCTCCAGGTT	0.453000														127			42		3.61848e-18	4.36538e-18	1	1	0
PROM2	150696	broad.mit.edu	37	2	95945719	95945719	+	Silent	SNP	C	T	T	rs140258551	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95945719C>T	uc002suk.3	+	10	1534	c.1401C>T	c.(1399-1401)ggC>ggT	p.G467G	PROM2_uc002suh.2_Silent_p.G467G|PROM2_uc002sui.3_Silent_p.G467G|PROM2_uc002suj.3_Silent_p.G121G|PROM2_uc002sul.3_5'UTR|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	467						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		p.G467G(2)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGCCAAGGGCGAGGCTGGAG	0.627000														127			27		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905812	23905812	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23905812C>A	uc001uon.2	-	9	12792	c.12203G>T	c.(12202-12204)aGc>aTc	p.S4068I	SACS_uc001uoo.2_Missense_Mutation_p.S3921I|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	4068					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TTCACTTCTGCTGTGGGGAAT	0.353000														65			12		6.40141e-05	6.6609e-05	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130919324	130919324	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130919324G>A	uc001uil.2	-	10	2373	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	RIMBP2_uc001uim.3_Silent_p.G627G	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	719						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCGAGGCGCCCCTCCTCT	0.642000														273			11		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37187589	37187589	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37187589C>T	uc011cpa.1	-	22	4238	c.4007G>A	c.(4006-4008)cGg>cAg	p.R1336Q	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.R411Q|C5orf42_uc011cpb.1_Missense_Mutation_p.R217Q	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1336								p.P1336H(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ATTAAAAAACCGAGAGAAAGG	0.378000														42			8		0	0	1	0	0
PSMD9	5715	broad.mit.edu	37	12	122337749	122337749	+	Missense_Mutation	SNP	G	A	A	rs139208583		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122337749G>A	uc001ubl.3	+	2	568	c.451G>A	c.(451-453)Gcg>Acg	p.A151T	PSMD9_uc009zxj.3_Non-coding_Transcript	NM_002813	NP_002804	O00233	PSMD9_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 9 (PSMD9), mRNA.	151	PDZ.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		AGCCAGCATCGCGGTAATCCA	0.622000														102			12		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841523	94841523	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841523G>A	uc002btj.3	+	0	94	c.29G>A	c.(28-30)gGc>gAc	p.G10D	MCTP2_uc010urg.1_Missense_Mutation_p.G10D|MCTP2_uc002bti.2_Missense_Mutation_p.G10D|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.G10D|MCTP2_uc002btg.4_Missense_Mutation_p.G10D|MCTP2_uc002bth.4_Missense_Mutation_p.G10D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	10					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCTGTTTGGGGCTCATTAAAA	0.463000														129			32		0	0	1	0	0
C17orf70	80233	broad.mit.edu	37	17	79512857	79512857	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79512857G>A	uc002kaq.3	-	5	2298	c.2225C>T	c.(2224-2226)gCt>gTt	p.A742V	C17orf70_uc002kao.1_Missense_Mutation_p.A391V|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A591V	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	742					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GACGTCCACAGCAGCATTCTC	0.637000														69			8		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151859602	151859602	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151859602C>T	uc003wla.3	-	42	11279	c.11060G>A	c.(11059-11061)aGt>aAt	p.S3687N	MLL3_uc003wkz.3_Missense_Mutation_p.S2748N|MLL3_uc003wky.3_Missense_Mutation_p.S1196N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	3687					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.N3686H(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGAGAAATCACTATTGGGCAG	0.468000			N		medulloblastoma									316			56		0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7707143G>A	uc010xjr.2	+	8	796	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	STXBP2_uc002mha.4_Missense_Mutation_p.V240M|STXBP2_uc002mhb.4_Missense_Mutation_p.V237M|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	240					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.Q250H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607000														139			7		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36700182	36700182	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36700182G>A	uc002hqd.3	-	17	3518	c.3293C>T	c.(3292-3294)cCc>cTc	p.P1098L	SRCIN1_uc002hqf.1_Missense_Mutation_p.P970L|SRCIN1_uc002hqe.2_Missense_Mutation_p.P993L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	970					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACCTTCATGGGTGGTACACT	0.632000														18			5		0	0	1	0	0
BCS1L	617	broad.mit.edu	37	2	219526526	219526526	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219526526T>C	uc002vip.3	+	4	851	c.505T>C	c.(505-507)Tac>Cac	p.Y169H	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.Y169H|BCS1L_uc010fvu.3_Missense_Mutation_p.Y169H|BCS1L_uc010fvv.3_Missense_Mutation_p.Y169H|BCS1L_uc002vis.3_Missense_Mutation_p.Y169H|BCS1L_uc021vwz.1_Missense_Mutation_p.Y169H	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	169					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGTGATGTACACAGCTGT	0.527000														80			15		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36878745	36878745	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36878745A>G	uc001uvn.3	-	9	2028	c.1758T>C	c.(1756-1758)gcT>gcC	p.A586A	SPG20_uc010ten.2_Silent_p.A576A|SPG20_uc001uvm.3_Silent_p.A586A|SPG20_uc001uvo.3_Silent_p.A586A|SPG20_uc001uvq.3_Silent_p.A586A	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	586					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CATGGTGGGTAGCTTCTCCTG	0.343000														78			20		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17946822	17946822	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17946822C>A	uc002nhn.4	-	13	1925	c.1825G>T	c.(1825-1827)Gac>Tac	p.D609Y	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.D609Y	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	609	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGATACATGTCTATGGCCCCC	0.582000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									119			30		7.26314e-15	8.55724e-15	1	1	0
SMTNL2	342527	broad.mit.edu	37	17	4496307	4496307	+	Missense_Mutation	SNP	C	T	T	rs112578571	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4496307C>T	uc002fyf.1	+	2	638	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	SMTNL2_uc002fye.2_Missense_Mutation_p.R47W	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	191										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		CCTCTCCTTGCGGCTGCCCCA	0.622000														160			13		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21330996	21330996	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21330996C>T	uc002ztj.2	+	11	1305	c.1087C>T	c.(1087-1089)Ctg>Ttg	p.L363L	LZTR1_uc002ztk.2_Silent_p.L363L|LZTR1_uc002ztl.2_Silent_p.L369L|LZTR1_uc011ahx.1_Silent_p.L351L|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					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)			TGTGGTGGAGCTGGAGGAGAC	0.672000														49			10		0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73499216	73499216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73499216C>T	uc002joc.3	-	17	2489	c.1939G>A	c.(1939-1941)Gcc>Acc	p.A647T	CASKIN2_uc010wsc.2_Missense_Mutation_p.A565T	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	647						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCTCGATGGCCATCAGCTCC	0.701000														53			7		0	0	1	0	0
HSD17B12	51144	broad.mit.edu	37	11	43837021	43837021	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43837021A>G	uc001mxq.4	+	4	661	c.426A>G	c.(424-426)gaA>gaG	p.E142E		NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 12 (HSD17B12), mRNA.	142					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity			endometrium(2)|large_intestine(4)|lung(4)	10						AGTATCCTGAATACTTTTTGG	0.313000														88			14		0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13015452	13015452	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13015452C>A	uc002mvr.2	-	2	175	c.160G>T	c.(160-162)Ggg>Tgg	p.G54W		NM_001105578	NP_001099048	Q6PIF2	SYCE2_HUMAN	Homo sapiens synaptonemal complex central element protein 2 (SYCE2), mRNA.	54					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCGACTTCCCTTCCAGGACC	0.547000														261			11		4.68919e-08	5.11014e-08	1	1	0
MDH1B	130752	broad.mit.edu	37	2	207604335	207604335	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207604335T>C	uc002vbs.3	-	10	1565	c.1510A>G	c.(1510-1512)Agt>Ggt	p.S504G	MDH1B_uc010ziw.2_Non-coding_Transcript|MDH1B_uc002vbt.3_Non-coding_Transcript|MDH1B_uc010fui.3_Missense_Mutation_p.S503G	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	504					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AACTCAAGACTCTGTGGCTTT	0.348000														48			8		0	0	1	0	0
LAMTOR3	8649	broad.mit.edu	37	4	100805266	100805266	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100805266C>T	uc003hvg.2	-	5	503	c.254G>A	c.(253-255)cGt>cAt	p.R85H	LAMTOR3_uc003hvh.2_Missense_Mutation_p.R78H|LAMTOR3_uc003hvi.2_Non-coding_Transcript	NM_021970	NP_068805	Q9UHA4	LTOR3_HUMAN	Homo sapiens late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 (LAMTOR3), transcript variant 1, mRNA.	85					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	Ragulator complex	protein binding			endometrium(1)|large_intestine(1)|lung(1)	3						CAAAGGTAAACGATTAAATTG	0.289000														61			25		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23911291	23911291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23911291C>T	uc001uon.2	-	9	7313	c.6724G>A	c.(6724-6726)Gca>Aca	p.A2242T	SACS_uc001uoo.2_Missense_Mutation_p.A2095T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2242					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTCAGTTGCTGCAAACATG	0.373000														62			14		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141806690	141806690	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141806690T>C	uc002tvj.1	-	10	2626	c.1654A>G	c.(1654-1656)Ata>Gta	p.I552V	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	552					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		AGATTTTCTATGGGGATCATG	0.423000										TSP Lung(27;0.18)				200			24		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122075755	122075755	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122075755G>A	uc021xrj.1	-	7	753	c.674C>T	c.(673-675)gCg>gTg	p.A225V	TNIP3_uc010ing.3_Missense_Mutation_p.A148V|TNIP3_uc011cgj.2_Missense_Mutation_p.A218V|TNIP3_uc010ini.3_Missense_Mutation_p.A148V	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	148										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTCCTTGTTCGCAAGAGTATT	0.343000														68			5		0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118175760	118175760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118175760C>T	uc003yoh.3	+	5	1050	c.820C>T	c.(820-822)Ctc>Ttc	p.L274F	SLC30A8_uc010mcz.3_Missense_Mutation_p.L225F|SLC30A8_uc003yog.3_Missense_Mutation_p.L225F|SLC30A8_uc011lia.2_Missense_Mutation_p.L225F|SLC30A8_uc022bab.1_Missense_Mutation_p.L225F|Metazoa_SRP_uc022bac.1_5'Flank	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	274					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CTCCATCTTACTCATGGAAGG	0.428000														71			22		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620670	7620670	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620670G>A	uc003bqm.2	+	7	2351	c.2077G>A	c.(2077-2079)Gct>Act	p.A693T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A693T|GRM7_uc003bql.2_Missense_Mutation_p.A693T|GRM7_uc003bqn.1_Missense_Mutation_p.A276T|GRM7_uc010hch.1_Missense_Mutation_p.A204T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	693					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	ATCAGTAACAGCTCCCAGACT	0.438000														67			17		0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50681795	50681795	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:50681795C>T	uc003paf.3	+	0	539	c.27C>T	c.(25-27)gtC>gtT	p.V9V	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	9							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGGGACTAGTCCACGATGCCG	0.502000														110			31		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32137828	32137828	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32137828T>C	uc001rks.3	+	3	4353	c.3939T>C	c.(3937-3939)tcT>tcC	p.S1313S		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1313										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			TGACAGCATCTTATGAACAAG	0.348000														91			17		0	0	1	0	0
SNW1	22938	broad.mit.edu	37	14	78189607	78189607	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78189607T>C	uc010tvn.1	-	10	1074	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	SNW1_uc001xuf.3_Silent_p.A349A|SNW1_uc010tvm.2_Silent_p.A274A			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	349					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCCTCTCACGTGCCTCCCCAT	0.413000														167			39		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100333097	100333097	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100333097C>A	uc021sxl.1	-	1		c.56G>T			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TTTTGCTGGGCTTGGCTGCTG	0.473000														160			26		2.44723e-14	2.87423e-14	1	1	0
KLF5	688	broad.mit.edu	37	13	73636671	73636671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:73636671C>T	uc001vje.3	+	1	1258	c.934C>T	c.(934-936)Cca>Tca	p.P312S	KLF5_uc001vjd.3_Missense_Mutation_p.P221S	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	312					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GCCTGGAAGTCCAGATAGACA	0.493000														168			25		0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2606516	2606516	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2606516G>A	uc001lwn.3	+	7	1215	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	KCNQ1_uc009ydp.1_Silent_p.P153P|KCNQ1_uc001lwo.3_Silent_p.P242P	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	369					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCAGATCCCGGCGGCAGCCT	0.592000														192			12		0	0	1	0	0
ADRA2C	152	broad.mit.edu	37	4	3768871	3768871	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768871G>A	uc003ghm.3	+	0	576	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	180					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GCTCATCTCGGCCGTCATCTC	0.677000														69			17		0	0	1	0	0
FAM53A	152877	broad.mit.edu	37	4	1657352	1657352	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1657352C>T	uc021xkk.1	-	3	433	c.235G>A	c.(235-237)Gct>Act	p.A79T	FAM53A_uc010ibw.3_Missense_Mutation_p.A79T|FAM53A_uc021xkl.1_Missense_Mutation_p.A79T	NM_001013622	NP_001167541	Q6NSI3	FA53A_HUMAN	Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA.	79						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			ATGGTGTGAGCGGCAGCAGAC	0.667000														31			9		0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43529075	43529075	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43529075G>T	uc003bdl.1	-	3	1196	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGAGGGTCCAGGTCCACATGT	0.632000														248			48		5.34276e-22	6.57361e-22	1	1	0
ADAM33	80332	broad.mit.edu	37	20	3660157	3660157	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3660157G>A	uc002wit.3	-	1	246	c.159C>T	c.(157-159)acC>acT	p.T53T	ADAM33_uc002wir.1_Silent_p.T53T|ADAM33_uc002wiu.3_Silent_p.T53T|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Silent_p.T53T|ADAM33_uc010gbb.1_Silent_p.T53T|ADAM33_uc002wix.1_Silent_p.T53T|ADAM33_uc010zqg.1_Silent_p.T53T|ADAM33_uc010zqh.1_Silent_p.T53T|ADAM33_uc002wiy.3_Silent_p.T53T	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	53					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCAGGCTGACGGTGCGCCAGG	0.622000														39			8		0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672855	141672855	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141672855G>T	uc003vwx.1	-	0	719	c.635C>A	c.(634-636)tCt>tAt	p.S212Y		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	212					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					CATCCCAGAAGAAACCAGAAA	0.458000														73			17		3.41278e-10	3.83229e-10	1	1	0
THBS1	7057	broad.mit.edu	37	15	39885651	39885651	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885651G>A	uc001zkh.3	+	18	3228	c.3049G>A	c.(3049-3051)Gaa>Aaa	p.E1017K	THBS1_uc010bbi.3_Missense_Mutation_p.E489K	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1017	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCAACACCGAAAGGGACGA	0.493000														418			20		0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70501802	70501802	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70501802A>G	uc010cft.3	+	7	750	c.692A>G	c.(691-693)gAc>gGc	p.D231G	FUK_uc002eyy.3_Missense_Mutation_p.D199G|FUK_uc002eyz.3_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	199						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CTTGTTTTGGACATTTACTAC	0.597000														102			25		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920108	196920108	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196920108T>G	uc001gtq.1	+	2	457	c.380T>G	c.(379-381)aTt>aGt	p.I127S	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	127	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						GAGAACAACATTTCATGTGTA	0.388000														138			6		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	39966944	39966944	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39966944C>T	uc003ayc.3	+	0	187	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.R63*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	63					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)	CTTCTGCCTGCGACAGACCAC	0.652000														220			40		0	0	1	0	0
C16orf87	388272	broad.mit.edu	37	16	46843515	46843515	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46843515C>T	uc002eek.1	-	3	359	c.346_splice	c.e3+1	p.E116_splice		NM_001001436	NP_001001436	Q6PH81	CP087_HUMAN	Homo sapiens chromosome 16 open reading frame 87 (C16orf87), mRNA.	116										large_intestine(4)|urinary_tract(1)	5						TTGTTCATACCTCTTTCTTCC	0.383000														182			15		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	427974	427974	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:427974C>T	uc003jav.3	+	8	870	c.827C>T	c.(826-828)gCg>gTg	p.A276V	AHRR_uc003jaw.3_Missense_Mutation_p.A258V|AHRR_uc010isy.3_Missense_Mutation_p.A104V|AHRR_uc010isz.3_Missense_Mutation_p.A254V|AHRR_uc003jax.3_Missense_Mutation_p.A17V|AHRR_uc003jay.3_Missense_Mutation_p.A114V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AAGAAGAAGGCGCCGTCAGGA	0.562000														111			21		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141381	25141381	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141381A>G	uc010ykm.2	-	0	675	c.476T>C	c.(475-477)tTc>tCc	p.F159S	ADCY3_uc002rfs.4_Missense_Mutation_p.F159S	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	159					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GGCACGCGCGAAGTTCAGGCC	0.622000														179			66		0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122782737	122782737	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122782737G>T	uc003ied.3	-	3	447	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	BBS7_uc003iee.2_Missense_Mutation_p.S88Y|BBS7_uc010inq.1_Missense_Mutation_p.S44Y	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	88					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTAATCTCAGATGCTGCAGC	0.428000									Bardet-Biedl syndrome					80			7		0.00198382	0.00202356	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20523167	20523167	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20523167C>T	uc001reh.2	+	0	989	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	317					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GCCCTGTATACCGAGGGAACA	0.607000														78			19		0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998367	46998367	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46998367G>A	uc002pes.2	-	0	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Missense_Mutation_p.A160T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	119										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCCAGCCTCCGCGGCCTGCGT	0.692000														294			83		0	0	1	0	0
MRPL38	64978	broad.mit.edu	37	17	73897891	73897891	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73897891C>T	uc010wso.1	-	3	718	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	FBF1_uc002jqa.1_Non-coding_Transcript|MRPL38_uc002jpz.1_Non-coding_Transcript	NM_032478	NP_115867	Q96DV4	RM38_HUMAN	Homo sapiens mitochondrial ribosomal protein L38 (MRPL38), nuclear gene encoding mitochondrial protein, mRNA.	165						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAAGGTGGCACCGTGGAAC	0.627000														73			14		0	0	1	0	0
GRSF1	2926	broad.mit.edu	37	4	71693715	71693715	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71693715C>T	uc010iia.1	-	5	1072	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	GRSF1_uc011caz.1_Missense_Mutation_p.R212Q|GRSF1_uc003hfs.2_Missense_Mutation_p.R168Q	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	330					mRNA polyadenylation		mRNA binding|nucleotide binding	p.R330*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GACATGTGTTCGAACTTCATT	0.353000														90			25		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	91925	91925	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000211.1:91925G>T	uc003bnz.1	+	6		c.1281G>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TGTGTGTTCAGAAGCTAAAGG	0.343000														25			3		0.004672	0.00474578	1	1	0
BUB3	9184	broad.mit.edu	37	10	124919965	124919965	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124919965A>C	uc001lhe.2	+	4	702	c.460A>C	c.(460-462)Aca>Cca	p.T154P	BUB3_uc009yah.2_Missense_Mutation_p.T106P|BUB3_uc001lhf.4_Missense_Mutation_p.T154P|BUB3_uc001lhd.2_Missense_Mutation_p.T154P|BUB3_uc010qud.1_Missense_Mutation_p.T74P	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GATTGTGGGAACAGCAGGCCG	0.488000														221			39		0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11052960	11052960	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11052960G>T	uc002rax.3	+	0	898	c.408G>T	c.(406-408)gaG>gaT	p.E136D		NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA.	136						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGAAGCGCGAGGAGCTGGAGG	0.642000														201			26		8.24728e-16	9.79314e-16	1	1	0
ATMIN	23300	broad.mit.edu	37	16	81078026	81078026	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81078026C>A	uc002ffz.1	+	3	1941	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	ATMIN_uc002fga.2_Missense_Mutation_p.F483L|ATMIN_uc010vnn.1_Missense_Mutation_p.F412L|ATMIN_uc002fgb.1_Missense_Mutation_p.F483L	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	641					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						TCGAAGAGTTCTTTTCGGCCT	0.493000														104			25		1.96895e-08	2.15575e-08	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169138991	169138991	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169138991G>A	uc003maf.3	+	15	1615	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D39N|DOCK2_uc010jjl.1_Missense_Mutation_p.R30Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	512	DHR-1.				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			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)			TTCATGTTTCGACATCGGTCA	0.498000														146			26		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77389909	77389909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77389909G>A	uc002ffc.4	-	8	1807	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L	ADAMTS18_uc010chc.1_Missense_Mutation_p.P51L|ADAMTS18_uc002ffe.1_Missense_Mutation_p.P159L|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	463	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGTCAGTGTGGGAGACATGAT	0.458000														99			37		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171780895	171780895	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171780895A>C	uc003mbr.3	-	8	953	c.782T>G	c.(781-783)aTc>aGc	p.I261S		NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	261	SH3 2.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGTACCTGATCTTCCACCA	0.602000														143			7		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616625	77616625	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77616625C>A	uc003yau.2	+	1	689	c.302C>A	c.(301-303)cCt>cAt	p.P101H	ZFHX4_uc003yat.1_Missense_Mutation_p.P101H|ZFHX4_uc003yaw.1_Missense_Mutation_p.P101H	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACCACTGCCCTAATGCCCGC	0.498000										HNSCC(33;0.089)				232			47		1.86633e-21	2.29124e-21	1	1	0
PKN1	5585	broad.mit.edu	37	19	14578761	14578761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14578761C>T	uc002myp.3	+	14	2126	c.1958C>T	c.(1957-1959)gCc>gTc	p.A653V	PKN1_uc002myq.3_Missense_Mutation_p.A659V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	653	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACATTGTGGCCCGAGACGAG	0.587000														79			27		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123337592	123337592	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123337592C>T	uc003ego.3	-	32	5676	c.5394G>A	c.(5392-5394)gaG>gaA	p.E1798E	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.E38E|MYLK_uc003egm.3_Silent_p.E37E|MYLK_uc010hrr.3_Silent_p.E233E|MYLK_uc011bjv.2_Silent_p.E598E|MYLK_uc011bjw.2_Silent_p.E1797E|MYLK_uc003egp.3_Silent_p.E1729E|MYLK_uc003egq.3_Silent_p.E1747E|MYLK_uc003egr.3_Silent_p.E1678E|MYLK_uc003egs.3_Silent_p.E1622E	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1798					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGCAACAGCCTCAAGGAAAG	0.443000														126			24		0	0	1	0	0
CXorf59	286464	broad.mit.edu	37	X	36083821	36083821	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:36083821G>A	uc004ddk.1	+	1	190	c.4G>A	c.(4-6)Gca>Aca	p.A2T		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	2						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CCCATATATGGCAATTCATCT	0.323000														29			5		0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76757124	76757124	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:76757124C>T	uc002lmt.3	+	2	3705	c.3705C>T	c.(3703-3705)aaC>aaT	p.N1235N	SALL3_uc010dra.3_Silent_p.N770N	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCATCCAGAACGGCGGCATCC	0.617000														329			74		0	0	1	0	0
FAM102A	399665	broad.mit.edu	37	9	130707059	130707059	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130707059C>T	uc004bsx.2	-	8	1432	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K	FAM102A_uc004bsw.1_Missense_Mutation_p.E204K|FAM102A_uc004bsy.1_Missense_Mutation_p.E74K	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	346										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GGCTCACCCTCGGTGTTGCTG	0.662000														84			17		0	0	1	0	0
KMO	8564	broad.mit.edu	37	1	241729796	241729796	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241729796A>C	uc009xgp.3	+	8	1004	c.693A>C	c.(691-693)aaA>aaC	p.K231N	KMO_uc001hyy.3_Missense_Mutation_p.K271N|KMO_uc009xgo.2_Missense_Mutation_p.K271N	NM_003679	NP_003670	O15229	KMO_HUMAN	Homo sapiens kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) (KMO), mRNA.	231					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			CACAGAACAAATCATTCACAT	0.438000														129			33		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7620618	7620618	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620618G>A	uc003bqm.2	+	7	2299	c.2025G>A	c.(2023-2025)acG>acA	p.T675T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T675T|GRM7_uc003bql.2_Silent_p.T675T|GRM7_uc003bqn.1_Silent_p.T258T|GRM7_uc010hch.1_Silent_p.T186T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	675					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCCTCTTGACGAAAACAAATC	0.458000														110			14		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408319	105408319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105408319G>A	uc010axc.1	-	6	13589	c.13469C>T	c.(13468-13470)gCg>gTg	p.A4490V	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A4390V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4490						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATCTTTGGCGCAGACACATC	0.572000														370			88		0	0	1	0	0
CLDND1	56650	broad.mit.edu	37	3	98235513	98235513	+	Missense_Mutation	SNP	C	T	T	rs147410947	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98235513C>T	uc003dst.3	-	5	1032	c.821G>A	c.(820-822)cGt>cAt	p.R274H	CLDND1_uc003dso.2_Intron|CLDND1_uc003dsp.3_Missense_Mutation_p.R251H|CLDND1_uc003dsq.3_Missense_Mutation_p.R251H|CLDND1_uc003dss.3_Missense_Mutation_p.R251H|CLDND1_uc003dsr.3_Missense_Mutation_p.R156H|CLDND1_uc003dsu.3_Missense_Mutation_p.R251H|CLDND1_uc003dsv.3_Missense_Mutation_p.R251H	NM_001040182	NP_063948	Q9NY35	CLDN1_HUMAN	Homo sapiens claudin domain containing 1 (CLDND1), transcript variant 4, mRNA.	251						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TCATGCCACACGATATGCCTT	0.398000														74			12		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26854526	26854526	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26854526A>C	uc003acl.3	-	11	2390	c.1731T>G	c.(1729-1731)gcT>gcG	p.A577A	HPS4_uc003aci.3_Silent_p.A572A|HPS4_uc003acj.3_Silent_p.A441A|HPS4_uc003ack.3_Silent_p.A368A|HPS4_uc003acn.3_Silent_p.A423A|HPS4_uc003ach.3_Silent_p.A312A	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	577					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						CATTCAGTGAAGCCAGGCTGC	0.552000									Hermansky-Pudlak syndrome					65			10		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41814317	41814317	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814317T>C	uc001zod.3	-	19	2998	c.2874A>G	c.(2872-2874)gcA>gcG	p.A958A		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	958	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGAGCGAGTGCCAGGTACT	0.582000														182			33		0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477586	56477586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56477586C>T	uc002qmh.3	+	4	2292	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	NLRP8_uc010etg.3_Missense_Mutation_p.R741C	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	741						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CAGCCTAAGGCGTGTGAATAG	0.517000														167			31		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495341	71495341	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71495341G>T	uc003kbw.4	+	4	6400	c.6159G>T	c.(6157-6159)caG>caT	p.Q2053H	MAP1B_uc010iyw.1_Missense_Mutation_p.Q2070H|MAP1B_uc010iyx.1_Missense_Mutation_p.Q1927H|MAP1B_uc010iyy.1_Missense_Mutation_p.Q1927H	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	2053						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAACCCCTCAGGCATCCACAT	0.468000														202			38		2.87052e-16	3.42015e-16	1	1	0
FAM200A	221786	broad.mit.edu	37	7	99146025	99146025	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99146025A>G	uc003ura.3	-	1	386	c.6T>C	c.(4-6)acT>acC	p.T2T	FAM200A_uc003urb.3_Silent_p.T2T|FAM200A_uc022aia.1_Silent_p.T2T	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	2						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TTGATTCAGGAGTCATTATTC	0.468000														50			13		0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64474125	64474125	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64474125C>A	uc010ssp.1	+	9	1439	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	SRGAP1_uc001srt.3_Missense_Mutation_p.D461E|SRGAP1_uc001srv.2_Missense_Mutation_p.D421E	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	461					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCAAACATGACTTGCTGCAGA	0.358000														61			5		0.0215528	0.0217347	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803264	185803264	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185803264A>G	uc002uph.3	+	3	3735	c.3141A>G	c.(3139-3141)gtA>gtG	p.V1047V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	1047						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						TCAAAAATGTACCATGTGAGG	0.458000														165			60		0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10529724	10529724	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10529724G>T	uc010joo.3	+	2	1131	c.580G>T	c.(580-582)Gac>Tac	p.D194Y	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Missense_Mutation_p.D193Y	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	194						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		CTGCGGGCAAGACTTTCCCCT	0.527000														90			7		8.12818e-05	8.44191e-05	1	1	0
AXIN2	8313	broad.mit.edu	37	17	63533929	63533929	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63533929G>T	uc002jfi.3	-	5	1514	c.1225C>A	c.(1225-1227)Ctc>Atc	p.L409I	AXIN2_uc002jfh.3_Missense_Mutation_p.L409I	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	409	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TTGAGTGTGAGCTCGGAGCCC	0.617000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					22			7		0.000157383	0.000162836	1	1	0
INPPL1	3636	broad.mit.edu	37	11	71948167	71948167	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71948167G>T	uc001osf.3	+	26	3027	c.2880_splice	c.e26-1	p.R960_splice	INPPL1_uc001osg.3_Splice_Site_p.R718_splice	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	960	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TCCACACCCAGGTTGAAGCCA	0.582000														198			48		3.05275e-18	3.6841e-18	1	1	0
CLGN	1047	broad.mit.edu	37	4	141316994	141316994	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141316994C>A	uc011chi.2	-	10	1346	c.1128G>T	c.(1126-1128)ctG>ctT	p.L376L	CLGN_uc003iii.3_Silent_p.L376L	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	376					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GATTATCGACCAGTGGAGGTC	0.378000														77			15		3.52763e-06	3.73571e-06	1	1	0
IFI44L	10964	broad.mit.edu	37	1	79094664	79094664	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79094664G>T	uc010oro.2	+	2	686	c.507G>T	c.(505-507)aaG>aaT	p.K169N	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	169						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ACGACATAAAGAGGATAATTA	0.299000														60			5		5.9392e-07	6.36579e-07	1	1	0
CELF4	56853	broad.mit.edu	37	18	34839169	34839169	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:34839169C>T	uc002lae.2	-	10	1704	c.1308G>A	c.(1306-1308)gaG>gaA	p.E436E	CELF4_uc021uix.1_Silent_p.E434E|CELF4_uc021uiy.1_Silent_p.E435E|CELF4_uc002lag.2_Intron|CELF4_uc002laf.2_Silent_p.E430E|CELF4_uc002lai.2_Silent_p.E420E	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	436	RRM 3.				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						TCTGCATCAGCTCAGCGTCCC	0.562000														54			11		0	0	1	0	0
SHANK2	22941	broad.mit.edu	37	11	70332710	70332710	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70332710A>C	uc001oqc.3	-	20	3602	c.3490T>G	c.(3490-3492)Tct>Gct	p.S1164A	SHANK2_uc010rqn.2_Missense_Mutation_p.S640A|SHANK2_uc001opz.3_Missense_Mutation_p.S635A|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	851					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCCTGTTGAGACTCCTTCATG	0.622000														210			37		0	0	1	0	0
CDCA4	55038	broad.mit.edu	37	14	105477705	105477705	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105477705A>G	uc021sep.1	-	0	562	c.562T>C	c.(562-564)Tac>Cac	p.Y188H	CDCA4_uc001yqa.2_Missense_Mutation_p.Y188H|CDCA4_uc001yqb.2_Missense_Mutation_p.Y188H	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	188						nucleus		p.P187A(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		AGGTCGTAGTAGGGGCTGTCC	0.587000														120			31		0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72049848	72049848	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:72049848C>A	uc021rkj.1	-	8	2433	c.2010G>T	c.(2008-2010)agG>agT	p.R670S	DACH1_uc021rkk.1_Missense_Mutation_p.R522S|DACH1_uc021rkl.1_Missense_Mutation_p.R468S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	720	DACHbox-C.|Interaction with SIN3A (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CATTTAAGACCCTGAGACTAT	0.388000														299			67		3.19358e-47	4.07242e-47	1	1	0
AGR2	10551	broad.mit.edu	37	7	16834575	16834575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:16834575C>T	uc003str.3	-	6	650	c.463G>A	c.(463-465)Gca>Aca	p.A155T		NM_006408	NP_006399	O95994	AGR2_HUMAN	Homo sapiens anterior gradient 2 homolog (Xenopus laevis) (AGR2), mRNA.	155					mucus secretion	endoplasmic reticulum|extracellular region	protein binding			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		GCTGTATCTGCAGGTTCGTAA	0.448000														59			12		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4683897	4683897	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683897A>C	uc003bqc.3	+	6	837	c.487A>C	c.(487-489)Att>Ctt	p.I163L	ITPR1_uc010hbz.3_Missense_Mutation_p.I163L|ITPR1_uc021wsi.1_Missense_Mutation_p.I163L|ITPR1_uc021wsj.1_Missense_Mutation_p.I163L|ITPR1_uc011asu.2_Missense_Mutation_p.I163L	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	163	MIR 1.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTGGTTTTATATTCAGCCATT	0.458000														54			7		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19901485	19901485	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19901485G>T	uc010rdm.2	+	4	943	c.582G>T	c.(580-582)caG>caT	p.Q194H	NAV2_uc001mpp.3_Missense_Mutation_p.Q130H|NAV2_uc001mpr.4_Missense_Mutation_p.Q194H|NAV2_uc021qew.1_Missense_Mutation_p.Q194H	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	194	Gln-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						agcagcagcagcagcagcccc	0.607000														142			28		2.79863e-10	3.14589e-10	1	1	0
ATP10D	57205	broad.mit.edu	37	4	47560058	47560058	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47560058G>A	uc003gxk.1	+	11	2366	c.2202G>A	c.(2200-2202)gtG>gtA	p.V734V	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	734					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CGGCCTTAGTGTATGCCGCCA	0.557000														113			22		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83822022	83822022	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83822022C>A	uc003hnt.2	+	0	186	c.67C>A	c.(67-69)Ctc>Atc	p.L23I	SEC31A_uc003hnm.3_5'UTR|SEC31A_uc021xpo.1_Non-coding_Transcript|SEC31A_uc003hnq.3_Non-coding_Transcript|SEC31A_uc021xpp.1_Non-coding_Transcript|AK128593_uc021xpq.1_5'Flank|THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	23							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GGAGCGCGGCCTCTCCTTCCA	0.711000														156			34		1.22384e-17	1.4705e-17	1	1	0
TSKS	60385	broad.mit.edu	37	19	50249836	50249836	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50249836G>A	uc002ppm.3	-	5	894	c.883C>T	c.(883-885)Cca>Tca	p.P295S		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	295							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		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;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AGGCCGTGTGGCCGCGAGGGT	0.721000														131			33		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37283632	37283632	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37283632A>C	uc002rpp.1	-	15	2446	c.2350T>G	c.(2350-2352)Tct>Gct	p.S784A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	784							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGGGCCACAGAAGCATCAATG	0.408000														138			41		0	0	1	0	0
SIRPB2	284759	broad.mit.edu	37	20	1460374	1460374	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1460374G>A	uc002wfg.2	-	1	650	c.422C>T	c.(421-423)tCg>tTg	p.S141L	SIRPB2_uc002wfh.3_Intron|SIRPB2_uc010zpr.1_Missense_Mutation_p.S3L	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	Homo sapiens signal-regulatory protein beta 2 (SIRPB2), transcript variant 1, mRNA.	141	Ig-like V-type 1.					integral to membrane		p.L141L(1)|p.S240L(1)|p.S141L(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCATCCGATTTCATTTC	0.478000														248			14		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48018178	48018178	+	Nonsense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48018178A>T	uc002rwd.4	+	1	525	c.373A>T	c.(373-375)Aaa>Taa	p.K125*	MSH6_uc002rwc.2_Nonsense_Mutation_p.K125*|MSH6_uc010fbj.3_5'UTR|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	125	PWWP.				DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CGAGAAAGGGAAATCAGTCCG	0.478000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					130			57		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933444	70933444	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70933444G>A	uc021vjc.1	-	2	362	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.R33C|ADD2_uc002sgz.3_Missense_Mutation_p.R33C|ADD2_uc010fdt.2_Missense_Mutation_p.R33C|ADD2_uc002shc.2_Missense_Mutation_p.R33C|ADD2_uc010fdu.2_Missense_Mutation_p.R49C	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	33					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTGCGAAGGCGCATGTACTCG	0.647000														198			68		0	0	1	0	0
DHRS13	147015	broad.mit.edu	37	17	27228272	27228272	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27228272G>A	uc002hde.4	-	3	545	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	DHRS13_uc002hdd.4_Missense_Mutation_p.R90W|DHRS13_uc010wba.2_Missense_Mutation_p.R59W	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	140						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			TGGTTCACCCGAAGCAGCAGG	0.602000														234			45		0	0	1	0	0
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59112065C>T	uc002iyv.4	+	17	1830	c.1721C>T	c.(1720-1722)tCg>tTg	p.S574L	BCAS3_uc010wow.1_Missense_Mutation_p.S346L|BCAS3_uc002iyu.4_Missense_Mutation_p.S559L|BCAS3_uc002iyw.4_Missense_Mutation_p.S555L|BCAS3_uc002iyy.4_Missense_Mutation_p.S330L|BCAS3_uc002iyz.4_Missense_Mutation_p.S128L|BCAS3_uc002iza.4_Missense_Mutation_p.S113L	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348000														57			20		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54556523	54556523	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54556523G>A	uc021smr.1	+	6	3600	c.3600G>A	c.(3598-3600)caG>caA	p.Q1200Q	UNC13C_uc021sms.1_Silent_p.Q1202Q|UNC13C_uc002acl.3_Silent_p.Q32Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1202					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTGTGCAGTTTACAAAGG	0.358000														15			4		0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196470	41196470	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41196470C>T	uc003oqc.3	+	1	186	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	TREML4_uc003oqd.3_Non-coding_Transcript	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	28	Ig-like V-type.					extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCCTGAAGAACTTCACAAACA	0.572000														147			33		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7043403	7043403	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7043403T>C	uc002knm.3	-	8	1071	c.977_splice	c.e8-1	p.A326_splice	LAMA1_uc010wzj.2_Splice_Site	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	326	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACAATTACATGCTAGGAGAA	0.338000														112			8		0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71046523	71046523	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71046523C>T	uc002shf.3	-	2	309	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CLEC4F_uc010yqv.1_Missense_Mutation_p.D78N	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	78					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAATGTTGTCTCCCAGAATT	0.532000														94			30		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47173814	47173814	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47173814C>T	uc001rpi.2	-	8	893	c.494_splice	c.e8-1	p.A165_splice	SLC38A4_uc001rpj.2_Splice_Site_p.A165_splice|SLC38A4_uc009zkl.2_Splice_Site_p.A165_splice	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	165					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTTGACATTGCTAAAATGGAA	0.378000														72			9		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52258212	52258212	+	Silent	SNP	G	A	A	rs151147353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52258212G>A	uc003ddb.3	-	4	621	c.411C>T	c.(409-411)caC>caT	p.H137H	TLR9_uc003dda.2_Silent_p.H40H|TLR9_uc003ddc.1_Silent_p.H25H	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	40					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCACCAGGCCGTGGGGCTGGA	0.627000														115			16		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91406463	91406463	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91406463C>A	uc001dnw.3	-	2	731	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Nonsense_Mutation_p.E150*	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GAACAAGATTCTGTTGTTGGC	0.403000														125			31		1.08312e-15	1.2841e-15	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140856674	140856674	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140856674C>T	uc003lkv.2	+	0	1106	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.P331S|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	329	Cadherin 3.				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)			GGGCGCCAATCCCGAAGGAGC	0.542000														127			34		0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765775	57765775	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57765775T>C	uc010ygt.2	+	3	1795	c.1588T>C	c.(1588-1590)Tct>Cct	p.S530P	ZNF805_uc010ygu.2_Missense_Mutation_p.S397P|ZNF805_uc021vcj.1_Missense_Mutation_p.S397P	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATTCGACACTCTATCATCCA	0.507000														98			22		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36686204	36686204	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36686204C>T	uc001uvf.3	-	2	808	c.525G>A	c.(523-525)gaG>gaA	p.E175E		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	175					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TCTCTCGCACCTCTGAAGGGC	0.527000														202			37		0	0	1	0	0
OR5R1	219479	broad.mit.edu	37	11	56185131	56185131	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56185131T>G	uc010rji.2	-	0	578	c.578A>C	c.(577-579)cAc>cCc	p.H193P	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TTCCTTCATGTGTGTGTCTGA	0.423000														99			31		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84539609	84539609	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84539609C>T	uc002bjz.4	+	8	1082	c.858C>T	c.(856-858)ccC>ccT	p.P286P	ADAMTSL3_uc010bmt.1_Silent_p.P286P	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	286						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTAACAGCCCCGGCGTCTTTC	0.378000														89			30		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109604757	109604757	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109604757G>A	uc001tob.3	+	2	864	c.745G>A	c.(745-747)Gag>Aag	p.E249K	ACACB_uc001toc.3_Missense_Mutation_p.E249K	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	249					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTCTCCCGCTGAGTTTGTCAC	0.612000														156			26		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130001054	130001054	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130001054G>A	uc010lmd.1	+	7	1123	c.503G>A	c.(502-504)aGc>aAc	p.S168N	CPA5_uc003vps.2_Missense_Mutation_p.S168N|CPA5_uc003vpt.2_Missense_Mutation_p.S168N|CPA5_uc010lme.1_Missense_Mutation_p.S168N|CPA5_uc003vpu.1_Missense_Mutation_p.S168N	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	168					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ATTGGCAACAGCTTTGAAAAC	0.403000														56			10		0	0	1	0	0
CD58	965	broad.mit.edu	37	1	117078761	117078761	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117078761G>A	uc001egm.3	-	2	575	c.454C>T	c.(454-456)Cga>Tga	p.R152*	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Nonsense_Mutation_p.R152*|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Nonsense_Mutation_p.R152*	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	152	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		ATAAGTCCTCGATGGCTGTTG	0.373000														51			14		0	0	1	0	0
LPAR6	10161	broad.mit.edu	37	13	48986181	48986181	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48986181G>T	uc010acu.3	-	0	1473	c.379C>A	c.(379-381)Cta>Ata	p.L127I	RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Missense_Mutation_p.L127I|LPAR6_uc001vcf.3_Missense_Mutation_p.L127I	NM_001162498	NP_005758	P43657	LPAR6_HUMAN	Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.	127						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGGTTCTTAGAGTCTTTGAC	0.418000														18			5		5.9392e-07	6.36579e-07	1	1	0
SEPT5	5413	broad.mit.edu	37	22	19709181	19709181	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19709181G>A	uc002zpv.2	+	8	861	c.736G>A	c.(736-738)Gtt>Att	p.V246I	SEPT5_uc002zpw.1_Missense_Mutation_p.V255I|SEPT5_uc002zpx.1_Non-coding_Transcript|GP1BB_uc002zpz.2_5'UTR	NM_002688	NP_002679	Q99719	SEPT5_HUMAN	Homo sapiens septin 5 (SEPT5), transcript variant 1, mRNA.	246					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GCCCTTCGCCGTTATAGGCAG	0.637000														185			13		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871069	8871069	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871069G>A	uc002qzc.2	-	29	5279	c.5097C>T	c.(5095-5097)ttC>ttT	p.F1699F	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.F1600F|KIDINS220_uc002qzb.2_Silent_p.F553F	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1699					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATCTCATCGAAATTTTGAT	0.468000														95			29		0	0	1	0	0
KLF17	128209	broad.mit.edu	37	1	44595709	44595709	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44595709G>A	uc001clp.3	+	1	824	c.766G>A	c.(766-768)Gga>Aga	p.G256R	KLF17_uc009vxf.1_Missense_Mutation_p.G219R	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	256					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					AGAGCAGCCCGGACCTGCTCC	0.557000														141			16		0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010637	86010637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:86010637G>A	uc003dql.3	+	6	789	c.789G>A	c.(787-789)tgG>tgA	p.W263*	CADM2_uc003dqj.3_Nonsense_Mutation_p.W261*|CADM2_uc003dqk.3_Nonsense_Mutation_p.W270*|CADM2_uc003dqm.2_Nonsense_Mutation_p.W153*|CADM2_uc021xay.1_Nonsense_Mutation_p.W153*|CADM2_uc021xaz.1_Nonsense_Mutation_p.W153*|CADM2_uc021xba.1_Nonsense_Mutation_p.W153*	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	261	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGTTTTGTGGACAAAGGATG	0.348000														190			36		0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52380666	52380666	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52380666G>A	uc010snn.2	+	7	1401	c.1324G>A	c.(1324-1326)Gct>Act	p.A442T	ACVR1B_uc001rzl.3_Missense_Mutation_p.A401T|ACVR1B_uc001rzm.3_Missense_Mutation_p.A401T|ACVR1B_uc001rzn.3_Missense_Mutation_p.A401T|ACVR1B_uc021qya.1_Missense_Mutation_p.A349T	NM_020328	NP_064733	P36896	ACV1B_HUMAN	Homo sapiens activin A receptor, type IB (ACVR1B), transcript variant 3, mRNA.	401	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	ATP binding|SMAD binding|activin receptor activity, type I|metal ion binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CTTTAAATGTGCTGATATTTA	0.413000														110			24		0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395675	100395675	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100395675C>T	uc003pqh.1	-	2	670	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	MCHR2_uc003pqi.1_Missense_Mutation_p.A119T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	119						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GCACTACAGGCAAATTGGTTA	0.468000														243			40		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189929383	189929383	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189929383T>G	uc002uqk.3	-	25	1893	c.1618_splice	c.e25-1	p.G540_splice	COL5A2_uc010frx.3_Splice_Site_p.G116_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	540					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TTGAGCACCCTGTACCGAGGC	0.478000														132			18		0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117864872	117864872	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864872A>G	uc003yod.3	-	9	1525	c.1237T>C	c.(1237-1239)Ttg>Ctg	p.L413L		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	413					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AATTCATCCAAATTATCTGCC	0.398000														90			25		0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172526	36172526	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36172526C>T	uc003olv.4	+	2	1764	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	BRPF3_uc010jwb.3_Missense_Mutation_p.R514W|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Missense_Mutation_p.R514W	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	514					histone H3 acetylation|platelet activation|platelet degranulation	MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GCGGCAGGCACGGAATGGTGT	0.512000														213			39		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102505518	102505518	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102505518C>A	uc001yks.2	+	59	11551	c.11387C>A	c.(11386-11388)aCc>aAc	p.T3796N		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3796					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GAGGTGGAGACCGTGTCCCAG	0.577000														146			26		1.17739e-12	1.36172e-12	1	1	0
STOX2	56977	broad.mit.edu	37	4	184922582	184922582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184922582C>T	uc003ivz.1	+	1	1706	c.271C>T	c.(271-273)Cct>Tct	p.P91S		NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	91					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGCAAGAAAGCCTGTCACCCA	0.547000														52			7		0	0	1	0	0
SMG7	9887	broad.mit.edu	37	1	183513549	183513549	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183513549C>T	uc001gqg.3	+	14	2154	c.1904C>T	c.(1903-1905)aCt>aTt	p.T635I	SMG7_uc010pob.2_Missense_Mutation_p.T618I|SMG7_uc021pga.1_Missense_Mutation_p.T547I|SMG7_uc001gqf.3_Missense_Mutation_p.T589I|SMG7_uc001gqh.3_Missense_Mutation_p.T589I|SMG7_uc010poc.2_Missense_Mutation_p.T593I	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	635					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	p.V634L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ACACCTGTAACTCAAACCCCA	0.423000														103			40		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702155	181702155	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181702155C>A	uc009wxt.3	+	19	3128	c.2933C>A	c.(2932-2934)gCc>gAc	p.A978D	CACNA1E_uc001gow.3_Missense_Mutation_p.A978D|CACNA1E_uc009wxs.3_Missense_Mutation_p.A959D|CACNA1E_uc001gox.1_Missense_Mutation_p.A204D	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	978					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A978D(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGAGAGAGCCCAGGATTTA	0.542000														86			17		4.14922e-12	4.76557e-12	1	1	0
TOX2	84969	broad.mit.edu	37	20	42695431	42695431	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42695431A>G	uc010ggo.3	+	7	1458	c.1418A>G	c.(1417-1419)aAc>aGc	p.N473S	TOX2_uc002xle.4_Missense_Mutation_p.N431S|TOX2_uc010ggp.3_Missense_Mutation_p.N431S|TOX2_uc002xlf.4_Missense_Mutation_p.N455S|TOX2_uc010zwk.2_Missense_Mutation_p.N351S	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCATCCAACCCCACCAGC	0.637000														261			56		0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220091645	220091645	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:220091645C>T	uc001hlw.3	-	2	1121	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	RNU5F-1_uc021pjd.1_Intron|SLC30A10_uc001hlu.1_Non-coding_Transcript|SLC30A10_uc001hlv.3_Missense_Mutation_p.A59T|SLC30A10_uc001hlx.3_Missense_Mutation_p.A79T	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN	Homo sapiens solute carrier family 30, member 10 (SLC30A10), mRNA.	304					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		AGCAGAATGGCAGCGGTCTCC	0.463000														218			43		0	0	1	0	0
HMP19	51617	broad.mit.edu	37	5	173473797	173473797	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173473797C>T	uc003mcx.3	+	1	184	c.39C>T	c.(37-39)acC>acT	p.T13T		NM_015980	NP_057064	Q9Y328	NSG2_HUMAN	Homo sapiens HMP19 protein (HMP19), mRNA.	13					dopamine receptor signaling pathway	Golgi cisterna membrane|cytoplasmic vesicle membrane|integral to membrane|multivesicular body membrane	dopamine receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)	15	Renal(175;0.000159)|Lung NSC(126;0.00925)|all_lung(126;0.0148)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGAAGGGAACCAAGCCGCCTT	0.527000														222			13		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212488760	212488760	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212488760G>A	uc002veg.1	-	17	2187	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	ERBB4_uc002veh.1_Missense_Mutation_p.P697S|ERBB4_uc010zji.1_Missense_Mutation_p.P687S|ERBB4_uc010zjj.1_Missense_Mutation_p.P687S|ERBB4_uc010fut.1_Missense_Mutation_p.P697S	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	697					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GGAGTTAATGGTTCCACCAAC	0.458000										TSP Lung(8;0.080)				111			19		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30232619	30232619	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30232619A>C	uc002wwj.1	+	4	503	c.428A>C	c.(427-429)cAg>cCg	p.Q143P		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	143					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			AAAGCCCAGCAGCTGCAGCGC	0.572000														99			13		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829317	57829317	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57829317A>G	uc002yan.3	+	4	4553	c.4553A>G	c.(4552-4554)cAg>cGg	p.Q1518R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1518						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCACAGCCAGACTGCAGGG	0.527000														72			17		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848164	72848164	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72848164T>C	uc002jlt.1	-	2	1142	c.986A>G	c.(985-987)gAg>gGg	p.E329G	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.E329G|GRIN2C_uc002jlv.1_3'UTR	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	329					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GTAGAAGGCCTCCCGGGCAGG	0.721000														36			8		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7583025	7583025	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7583025G>A	uc003mxp.1	+	23	5809	c.5530G>A	c.(5530-5532)Gag>Aag	p.E1844K	DSP_uc003mxq.1_Missense_Mutation_p.E1245K|DSP_uc021yle.1_Missense_Mutation_p.E1401K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1844	Central fibrous rod domain.				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)		ATCAACTCTAGAGGCAGAAAC	0.498000														152			29		0	0	1	0	0
C14orf135	64430	broad.mit.edu	37	14	60581598	60581598	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60581598G>A	uc001xer.4	+	2	689	c.167_splice	c.e2+1	p.R56_splice	C14orf135_uc001xeq.2_Splice_Site_p.R56_splice	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	290						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		CCCACTTACGGTATTTATTTT	0.348000														170			50		0	0	1	0	0
PTDSS1	9791	broad.mit.edu	37	8	97296348	97296348	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:97296348C>T	uc003yht.1	+	2	385	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353000														90			23		0	0	1	0	0
PIWIL2	55124	broad.mit.edu	37	8	22161539	22161539	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22161539C>A	uc003xbn.2	+	10	1335	c.1187C>A	c.(1186-1188)gCc>gAc	p.A396D	PIWIL2_uc011kzf.1_Missense_Mutation_p.A396D|PIWIL2_uc010ltv.2_Missense_Mutation_p.A396D	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	396	PAZ.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CAAAGGCATGCCATTTATCAG	0.373000														107			25		2.98393e-07	3.21458e-07	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132193050	132193050	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132193050G>A	uc003vra.4	-	1	632	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	PLXNA4_uc003vrc.2_Nonsense_Mutation_p.Q135*|PLXNA4_uc003vrb.3_Nonsense_Mutation_p.Q135*	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	135	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGATGCCTTGGTACAGGCTC	0.542000														79			16		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102472334	102472334	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102472334C>A	uc001yks.2	+	26	5707	c.5543C>A	c.(5542-5544)cCt>cAt	p.P1848H		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1848	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TACTTTGACCCTAAGCAAACT	0.418000														218			18		6.94344e-10	7.75807e-10	1	1	0
AFF3	3899	broad.mit.edu	37	2	100210030	100210030	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100210030G>A	uc002taf.3	-	13	2312	c.2168C>T	c.(2167-2169)gCc>gTc	p.A723V	AFF3_uc002tag.3_Missense_Mutation_p.A698V|AFF3_uc010fiq.1_Missense_Mutation_p.A698V|AFF3_uc010yvr.1_Missense_Mutation_p.A851V|AFF3_uc002tah.1_Missense_Mutation_p.A723V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	698					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGAGGCAGAGGCAGCCACGGT	0.617000														226			78		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088536	109088536	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109088536A>G	uc002tec.3	+	5	2905	c.2751A>G	c.(2749-2751)gaA>gaG	p.E917E	GCC2_uc002ted.3_Silent_p.E816E	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	917					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AACAAAAAGAATTACGAGATA	0.284000														76			25		0	0	1	0	0
CLN6	54982	broad.mit.edu	37	15	68500697	68500697	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68500697G>A	uc010ujz.2	-	6	1051	c.813C>T	c.(811-813)ttC>ttT	p.F271F	CALML4_uc002arb.3_5'Flank|CALML4_uc002arc.3_5'Flank|CALML4_uc002ard.3_5'Flank|CALML4_uc002are.3_5'Flank|CALML4_uc010bhz.3_5'Flank|CLN6_uc002arf.3_Silent_p.F239F|CLN6_uc010ujy.2_Silent_p.F110F	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA.	239					cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	p.L270L(1)		large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAGCATGGCGAAGAAGGTGA	0.607000														126			22		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615645	4615645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615645G>A	uc010qyi.2	+	0	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTTTGACCGCTATGTAGCC	0.502000														61			12		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4029235	4029235	+	Missense_Mutation	SNP	C	T	T	rs142198070		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4029235C>T	uc002cvx.3	-	7	3100	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	854					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTCCAGCAGGCGCTTGGTGCA	0.662000														158			32		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6222534	6222534	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6222534G>A	uc002mek.3	-	5	872	c.708C>T	c.(706-708)ggC>ggT	p.G236G		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	236					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TGGGCAGCCGGCCCTCGCCCA	0.642000			T	MLL	AL									58			18		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56647086	56647086	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56647086G>A	uc001skm.4	-	9	1176	c.1086C>T	c.(1084-1086)ggC>ggT	p.G362G		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	362							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CGGTATCTGCGCCATTGGTCA	0.572000														158			35		0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72667284	72667284	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72667284G>T	uc001sxa.3	+	0	756	c.726G>T	c.(724-726)gaG>gaT	p.E242D	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	242					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCTCATCGAGAATGAGCTCC	0.602000														250			12		0.00136819	0.00139829	1	1	0
NSD1	64324	broad.mit.edu	37	5	176722104	176722104	+	Nonsense_Mutation	SNP	C	T	T	rs142579918	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176722104C>T	uc003mfr.4	+	22	7873	c.7735C>T	c.(7735-7737)Cag>Tag	p.Q2579*	NSD1_uc003mft.4_Nonsense_Mutation_p.Q2310*|NSD1_uc011dfx.2_Nonsense_Mutation_p.Q2227*|NSD1_uc021yip.1_Nonsense_Mutation_p.Q403*	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	2579				PGPLSQSPGLVKQAKQMVGGQQLPA -> QGFFTKSPALVE NKGKTKWVGRPTNYLH (in Ref. 3; AAK92049).	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCTGGTGAAGCAGGCGAAGCA	0.607000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				113			37		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5941725	5941725	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:5941725G>A	uc001qnm.2	-	4	738	c.666C>T	c.(664-666)agC>agT	p.S222S	ANO2_uc021qtt.1_Silent_p.S226S	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	227						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCAGAGCCGCGCTGAACTTCT	0.522000														75			17		0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969775	240969775	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240969775C>T	uc010zoc.2	-	0	72	c.72G>A	c.(70-72)caG>caA	p.Q24Q	OR6B2_uc002vyr.3_Silent_p.Q24Q	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGAGCAGGTACTGCAGCCCTG	0.612000														107			39		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423431	26423431	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26423431G>T	uc003abz.1	+	42	7741	c.7491G>T	c.(7489-7491)gaG>gaT	p.E2497D	MYO18B_uc003aca.1_Missense_Mutation_p.E2378D|MYO18B_uc010guy.1_Missense_Mutation_p.E2379D|MYO18B_uc010guz.1_Missense_Mutation_p.E2377D|MYO18B_uc011aka.1_Missense_Mutation_p.E1651D|MYO18B_uc011akb.1_Missense_Mutation_p.E2010D|MYO18B_uc010gva.1_Missense_Mutation_p.E480D|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2497						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.P2497L(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGAGCCCGGAGCCCAAGGAGG	0.537000														66			23		3.62473e-10	4.06567e-10	1	1	0
LPA	4018	broad.mit.edu	37	6	161015074	161015074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161015074G>A	uc003qtl.3	-	22	3665	c.3545C>T	c.(3544-3546)aCc>aTc	p.T1182I		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3690	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.T1182T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGTGACAGTGGTAGAGAATGA	0.473000														155			39		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33467027	33467027	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33467027C>A	uc002hiy.1	-	2	249	c.221G>T	c.(220-222)gGg>gTg	p.G74V	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	74						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CAACGTCTTCCCCAGTGAGGA	0.547000														68			16		4.7546e-09	5.25358e-09	1	1	0
ZNF345	25850	broad.mit.edu	37	19	37368910	37368910	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368910C>A	uc002oex.3	+	2	1559	c.1178C>A	c.(1177-1179)aCt>aAt	p.T393N	ZNF345_uc021utn.1_Missense_Mutation_p.T393N|ZNF345_uc002oey.4_Missense_Mutation_p.T393N|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.T393N|ZNF345_uc021utp.1_Missense_Mutation_p.T393N|ZNF345_uc021utq.1_Missense_Mutation_p.T393N	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	393					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTAATCCATACTGGTGAAAGA	0.423000														82			19		5.3912e-06	5.69533e-06	1	1	0
CEP95	90799	broad.mit.edu	37	17	62518874	62518874	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62518874T>C	uc002jem.3	+	7	828	c.770T>C	c.(769-771)aTc>aCc	p.I257T	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Missense_Mutation_p.I93T	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	257						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GGGGAGCCTATCCGAGCAGCT	0.468000														88			20		0	0	1	0	0
TCEB1	6921	broad.mit.edu	37	8	74859046	74859046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74859046G>A	uc022avv.1	-	5	442	c.158C>T	c.(157-159)gCt>gTt	p.A53V	TCEB1_uc022avw.1_Missense_Mutation_p.A53V|TCEB1_uc022avx.1_Missense_Mutation_p.A53V|TCEB1_uc003xzy.2_Missense_Mutation_p.A53V|TCEB1_uc003yaa.2_Missense_Mutation_p.A53V|TCEB1_uc022avy.1_Missense_Mutation_p.A53V|TCEB1_uc003xzx.2_Missense_Mutation_p.A53V|TCEB1_uc022avz.1_Missense_Mutation_p.A37V|TCEB1_uc003xzz.2_Missense_Mutation_p.A37V	NM_001204861	NP_001191790	Q15369	ELOC_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) (TCEB1), transcript variant 7, mRNA.	53					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TTCGTTCTCAGCAAACTGACC	0.373000														56			12		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66981212	66981212	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66981212T>C	uc002jhu.3	-	32	4409	c.4266A>G	c.(4264-4266)tcA>tcG	p.S1422S	ABCA9_uc010dez.3_Silent_p.S1384S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1422	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTATTCCCTCTGACAAGGTCT	0.537000														139			23		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152096417	152096417	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152096417C>A	uc010ipl.1	-	6	1189	c.99G>T	c.(97-99)aaG>aaT	p.K33N	SH3D19_uc003imc.2_Missense_Mutation_p.K33N|SH3D19_uc003ime.2_Missense_Mutation_p.K33N|SH3D19_uc010ipm.2_Missense_Mutation_p.K33N	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	33					cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTTCTGGTTTCTTGGGCAGTC	0.428000														213			53		4.44712e-29	5.58963e-29	1	1	0
PRPS1L1	221823	broad.mit.edu	37	7	18067034	18067034	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18067034G>A	uc003stz.3	-	0	453	c.372C>T	c.(370-372)atC>atT	p.I124I		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	124					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGGTGATGATATGATCCG	0.468000														178			40		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	231927223	231927223	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231927223G>A	uc002vrn.2	+	3	300	c.138G>A	c.(136-138)gaG>gaA	p.E46E	PSMD1_uc002vrm.2_Silent_p.E46E|PSMD1_uc010fxu.2_Intron	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	46					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	CTTTCAGAGAGGTTTTATACG	0.393000														110			20		0	0	1	0	0
RNF216	54476	broad.mit.edu	37	7	5754711	5754711	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5754711G>T	uc003sox.2	-	10	2065	c.1806C>A	c.(1804-1806)gcC>gcA	p.A602A	RNF216_uc010ksz.2_Silent_p.A167A|RNF216_uc010kta.2_Silent_p.A167A|RNF216_uc003soy.2_Silent_p.A545A|RNF216_uc011jwj.2_Silent_p.A167A	NM_207111	NP_996994	Q9NWF9	RN216_HUMAN	Homo sapiens ring finger protein 216 (RNF216), transcript variant 1, mRNA.	545					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		CTGCCTCTTGGGCATATCTGA	0.458000														296			12		4.36969e-10	4.89342e-10	1	1	0
ROBO3	64221	broad.mit.edu	37	11	124740119	124740119	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124740119G>A	uc001qbc.3	+	4	994	c.825G>A	c.(823-825)gtG>gtA	p.V275V		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	275	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATGCCCCTGTGACTTTCCTAT	0.602000														114			26		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486406	94486406	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486406C>T	uc004arj.2	-	8	2569	c.2370G>A	c.(2368-2370)aaG>aaA	p.K790K	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	790	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCTTCTGCTTGGGCCCCA	0.677000														230			45		0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148575278	148575278	+	Missense_Mutation	SNP	C	A	A	rs149931188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148575278C>A	uc003ewl.3	+	9	1039	c.1016C>A	c.(1015-1017)gCc>gAc	p.A339D		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	339					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AAAGAACTTGCCTCACTGCAC	0.448000														73			13		4.7546e-09	5.25358e-09	1	1	0
NIPAL2	79815	broad.mit.edu	37	8	99207043	99207043	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99207043G>A	uc003yim.1	-	9	1208	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	NIPAL2_uc011lgw.1_Silent_p.L114L|NIPAL2_uc003yil.1_Silent_p.L318L			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	318						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						AGGAATGACAGAAAACACCTG	0.308000														47			10		0	0	1	0	0
SLC28A3	64078	broad.mit.edu	37	9	86955505	86955505	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86955505C>A	uc010mpz.3	-	0	190	c.44G>T	c.(43-45)aGc>aTc	p.S15I	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.S15I|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	15					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GCCCACGTTGCTGTAGCCCTC	0.532000														178			35		2.09667e-21	2.57328e-21	1	1	0
CHRNA4	1137	broad.mit.edu	37	20	61981707	61981707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981707C>T	uc002yes.2	-	4	1234	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	CHRNA4_uc002yet.1_Silent_p.V176V|CHRNA4_uc010gke.1_Silent_p.V281V|CHRNA4_uc002yev.1_Silent_p.V176V|CHRNA4_uc010gkf.1_Silent_p.V176V	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	352					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCAGGCGTGGCACGATGTCCA	0.632000														138			31		0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104041484	104041484	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104041484G>A	uc003hxb.1	-	43	7240	c.7150C>T	c.(7150-7152)Cga>Tga	p.R2384*	CENPE_uc003hxc.1_Nonsense_Mutation_p.R2263*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2384	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCAGCTCTCGAATTTTCTAT	0.328000														21			3		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152497616	152497616	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152497616C>A	uc021zhb.1	-	127	23763	c.23540G>T	c.(23539-23541)aGc>aTc	p.S7847I	SYNE1_uc003qos.4_Missense_Mutation_p.S2371I|SYNE1_uc003qot.4_Missense_Mutation_p.S7776I|SYNE1_uc003qou.4_Missense_Mutation_p.S7847I|SYNE1_uc011eez.2_Missense_Mutation_p.S49I|SYNE1_uc003qoq.4_Missense_Mutation_p.S49I|SYNE1_uc003qor.4_Missense_Mutation_p.S747I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7847					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCTTTCATGGCTGGCTTTAGC	0.443000										HNSCC(10;0.0054)				256			38		9.8876e-21	1.20929e-20	1	1	0
VN1R5	317705	broad.mit.edu	37	1	247419469	247419469	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247419469T>C	uc010pyu.2	+	0	96	c.96T>C	c.(94-96)ttT>ttC	p.F32F		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	32					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			GCTTTAATTTTCCTTCTAAGA	0.328000														108			9		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118812091	118812091	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:118812091G>A	uc003yok.1	-	10	2874	c.2101C>T	c.(2101-2103)Cga>Tga	p.R701*		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	701					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAGCTCTGTCGCTGGGCAAAG	0.537000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					96			24		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70978553	70978553	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70978553C>T	uc003xym.3	-	4	1302	c.1100G>A	c.(1099-1101)gGa>gAa	p.G367E		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	367	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			ATAGCAGTCTCCATACCACAC	0.512000														125			43		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10397923C>T	uc002gmo.3	-	37	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393000														125			26		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2202719	2202719	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2202719G>T	uc002fub.1	-	1	1383	c.1328C>A	c.(1327-1329)tCt>tAt	p.S443Y	SMG6_uc002fud.2_Missense_Mutation_p.S412Y	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	443	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTCCGAGATCCCTTACT	0.537000														303			54		3.07002e-29	3.86007e-29	1	1	0
GANC	2595	broad.mit.edu	37	15	42631902	42631902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42631902G>A	uc001zpi.3	+	16	2193	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K		NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	627					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TCCAGAGACAGAGCTGCTAGT	0.542000														163			44		0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42744440	42744440	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42744440C>T	uc002xli.1	-	3	2748	c.1875G>A	c.(1873-1875)aaG>aaA	p.K625K	JPH2_uc021wea.1_5'Flank	NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	625	Pro-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane		p.P624P(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGATGATGGGCTTGGGCTCCA	0.741000														95			17		0	0	1	0	0
EFEMP2	30008	broad.mit.edu	37	11	65637409	65637409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65637409G>A	uc001ofy.4	-	6	905	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	216	EGF-like 4; calcium-binding (Potential).				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		TTGAAGCAGCGCTGCTCGCAT	0.607000														219			55		0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67200475	67200475	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67200475C>T	uc001old.3	+	7	751	c.669C>T	c.(667-669)ggC>ggT	p.G223G	RPS6KB2_uc021qmi.1_5'UTR	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	223	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCATGAGGGCGCCGTCACTC	0.627000														92			15		0	0	1	0	0
CCDC171	203238	broad.mit.edu	37	9	15723736	15723736	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:15723736A>C	uc011lmu.2	+	11	1618	c.1507A>C	c.(1507-1509)Aat>Cat	p.N503H	CCDC171_uc010mih.1_Missense_Mutation_p.N503H|CCDC171_uc003zmd.3_Missense_Mutation_p.N495H|CCDC171_uc003zme.3_Missense_Mutation_p.N410H	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	495																	TCACACTAAAAATATAAAGGT	0.274000														29			6		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129975289	129975289	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129975289G>A	uc004bqo.2	+	16	1780	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	RALGPS1_uc011mac.2_Missense_Mutation_p.E463K|RALGPS1_uc004bqq.4_Missense_Mutation_p.E455K	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	505	PH.|Required for stimulation of nucleotide exchange by RALA.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGATGACCCCGAGCACCCAGA	0.572000														114			19		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51771115	51771115	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51771115C>T	uc003pah.1	-	40	6982	c.6706G>A	c.(6706-6708)Gtg>Atg	p.V2236M	PKHD1_uc010jzn.1_Intron|PKHD1_uc003pai.3_Missense_Mutation_p.V2236M	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2236					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V2236V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGTTCCTCACTGTGCAGCCC	0.438000														114			27		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170815035	170815035	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170815035T>G	uc010zdi.2	+	24	3634	c.3634_splice	c.e24+1	p.D1212_splice	UBR3_uc002ufr.4_Splice_Site|UBR3_uc010fqa.3_Splice_Site|UBR3_uc002uft.4_Splice_Site_p.D65_splice	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1212					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						CAATGGATGTTGGTAAGTCAA	0.353000														100			21		0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3017130	3017130	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3017130C>T	uc003mus.2	+	5	768	c.430C>T	c.(430-432)Ctc>Ttc	p.L144F	NQO2_uc003mut.2_Missense_Mutation_p.L144F	NM_000904	NP_000895	P16083	NQO2_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA.	144						cytoplasm|nucleus	NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	TAAACTAGCGCTCCTTTCCGT	0.547000														51			10		0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21519642	21519642	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21519642C>A	uc004czx.2	+	7	1226	c.746C>A	c.(745-747)cCt>cAt	p.P249H	CNKSR2_uc004czw.3_Missense_Mutation_p.P249H|CNKSR2_uc011mjn.2_Missense_Mutation_p.P249H|CNKSR2_uc011mjo.2_Missense_Mutation_p.P249H	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	249	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ATTCAGTCACCTGCAGATCGG	0.348000														41			9		1.76689e-08	1.93511e-08	1	1	0
ROBO4	54538	broad.mit.edu	37	11	124765468	124765468	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124765468G>A	uc001qbg.3	-	5	1061	c.921C>T	c.(919-921)agC>agT	p.S307S	ROBO4_uc010sas.2_Silent_p.S162S|ROBO4_uc001qbh.2_Silent_p.S197S|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	307	Fibronectin type-III 1.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.S307S(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CAAGCTCTGCGCTCTGCCAGC	0.657000														222			11		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132290261C>A	uc002tta.3	+	4	835	c.783C>A	c.(781-783)atC>atA	p.I261I	CCDC74A_uc002ttb.3_Silent_p.I195I|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617000														360			38		1.04594e-18	1.26598e-18	1	1	0
ESYT3	83850	broad.mit.edu	37	3	138191410	138191410	+	Missense_Mutation	SNP	G	A	A	rs147770352	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138191410G>A	uc003esk.3	+	17	2172	c.1946G>A	c.(1945-1947)aGt>aAt	p.S649N	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	649						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						ACCACCACCAGTGCTACCACC	0.557000														249			47		0	0	1	0	0
HBXIP	10542	broad.mit.edu	37	1	110946568	110946568	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110946568G>T	uc001dzr.3	-	2	492	c.434C>A	c.(433-435)cCt>cAt	p.P145H		NM_006402	NP_006393	O43504	HBXIP_HUMAN	Homo sapiens hepatitis B virus x interacting protein (HBXIP), mRNA.	63					anti-apoptosis|negative regulation of caspase activity|response to virus|viral genome replication	cytosol	protein binding			kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9		all_cancers(81;4.08e-06)|all_epithelial(167;4.38e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0237)|all cancers(265;0.0675)|Epithelial(280;0.0732)|Colorectal(144;0.102)|LUSC - Lung squamous cell carcinoma(189;0.134)		ACACACCACAGGAATATCAGT	0.488000														155			33		8.4185e-14	9.84907e-14	1	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105367128	105367128	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105367128C>T	uc003ylx.1	+	2	1102	c.1053C>T	c.(1051-1053)atC>atT	p.I351I		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	351					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AAGATATTATCCATGATTCTT	0.348000														47			8		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55600233	55600233	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600233T>G	uc010qhy.1	-	29	4240	c.3845A>C	c.(3844-3846)gAa>gCa	p.E1282A	PCDH15_uc010qhq.2_Missense_Mutation_p.E1282A|PCDH15_uc010qhr.2_Missense_Mutation_p.E1277A|PCDH15_uc021pqv.1_Missense_Mutation_p.E1277A|PCDH15_uc021pqw.1_Missense_Mutation_p.E1289A|PCDH15_uc010qht.2_Missense_Mutation_p.E1284A|PCDH15_uc021pqx.1_Missense_Mutation_p.E1277A|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.E1277A|PCDH15_uc021pqz.1_Missense_Mutation_p.E1255A|PCDH15_uc010qhv.1_Missense_Mutation_p.E1277A|PCDH15_uc010qhw.1_Missense_Mutation_p.E1240A|PCDH15_uc010qhx.1_Missense_Mutation_p.E1206A|PCDH15_uc010qhz.1_Missense_Mutation_p.E1277A|PCDH15_uc010qia.1_Missense_Mutation_p.E1255A|PCDH15_uc001jju.1_Missense_Mutation_p.E1277A|PCDH15_uc010qib.1_Missense_Mutation_p.E1255A	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1277					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGGAATTTGTTCCTGAACATA	0.428000										HNSCC(58;0.16)				73			18		0	0	1	0	0
ARCN1	372	broad.mit.edu	37	11	118453977	118453977	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118453977C>T	uc009zag.3	+	3	676	c.474C>T	c.(472-474)gtC>gtT	p.V158V	ARCN1_uc001ptq.3_Silent_p.V117V|ARCN1_uc010ryg.2_Silent_p.V29V	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	117					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATGAAATTGTCGCACTGGGAT	0.428000														75			15		0	0	1	0	0
NRIP1	8204	broad.mit.edu	37	21	16339699	16339699	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:16339699C>T	uc021whl.1	-	0	815	c.815G>A	c.(814-816)aGc>aAc	p.S272N	NRIP1_uc002yjx.2_Missense_Mutation_p.S272N	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	272	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATGGGCTTCGCTTGACAGAAG	0.453000														182			30		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88780583	88780583	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88780583G>T	uc001pcq.3	-	0	658	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	GRM5_uc009yvm.3_Missense_Mutation_p.S153Y|GRM5_uc009yvn.2_Missense_Mutation_p.S153Y	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	153					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATGGCTACAGAACTGGAGCC	0.502000														111			13		1.5842e-08	1.73923e-08	1	1	0
USP53	54532	broad.mit.edu	37	4	120177606	120177606	+	Missense_Mutation	SNP	G	A	A	rs141895329	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120177606G>A	uc003ics.4	+	7	1563	c.497G>A	c.(496-498)cGt>cAt	p.R166H	USP53_uc003icr.4_Missense_Mutation_p.R166H|USP53_uc003icu.4_5'UTR	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	166					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TGTGTGTGTCGTAGCTGTGGA	0.333000														102			16		0	0	1	0	0
MBTPS1	8720	broad.mit.edu	37	16	84104310	84104310	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84104310T>C	uc002fhi.3	-	12	2167	c.1665A>G	c.(1663-1665)ttA>ttG	p.L555L	MBTPS1_uc002fhh.3_Silent_p.L59L	NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	555					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ACCAAGGCCATAAGACCGAGG	0.522000														156			51		0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9783772	9783772	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9783772A>C	uc002gmd.1	+	10	1223	c.1223A>C	c.(1222-1224)cAa>cCa	p.Q408P		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	408					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	ACTGATGATCAAGTTGAAGGA	0.378000														238			13		0	0	1	0	0
ASB10	136371	broad.mit.edu	37	7	150878501	150878501	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150878501C>T	uc003wjm.1	-	2	890	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	ASB10_uc003wjl.1_Missense_Mutation_p.R210Q|ASB10_uc003wjn.1_Missense_Mutation_p.R195Q	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	210					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTCCTCGGACCGACCATCCAC	0.637000														64			18		0	0	1	0	0
ZNF519	162655	broad.mit.edu	37	18	14105441	14105441	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14105441G>A	uc002kst.2	-	2	1311	c.1098C>T	c.(1096-1098)caC>caT	p.H366H	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATTCTCTGGTGTTGAGTAA	0.423000														186			38		0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257442	84257442	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:84257442C>T	uc002bjw.3	+	7	952	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458000														66			9		0	0	1	0	0
ACTA1	58	broad.mit.edu	37	1	229567884	229567884	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229567884G>A	uc001htm.3	-	4	770	c.665C>T	c.(664-666)gCc>gTc	p.A222V		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	222					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	GAAGTCCAGGGCCACGTAGCA	0.657000														87			21		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179638990	179638990	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179638990C>A	uc021vsy.1	-	29	7226	c.7001G>T	c.(7000-7002)gGa>gTa	p.G2334V	TTN_uc021vsz.1_Missense_Mutation_p.G2288V|TTN_uc021vta.1_Missense_Mutation_p.G2288V|TTN_uc021vtb.1_Missense_Mutation_p.G2288V|TTN_uc002unb.2_Missense_Mutation_p.G2334V|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2334	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S2334F(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTATTCTCCCTGGTCCTC	0.438000														117			43		4.67007e-22	5.74789e-22	1	1	0
SUSD1	64420	broad.mit.edu	37	9	114874056	114874056	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114874056G>A	uc010mui.3	-	7	1090	c.1049C>T	c.(1048-1050)aCc>aTc	p.T350I	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T350I|SUSD1_uc010muj.3_Missense_Mutation_p.T350I			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	350						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GCTGTCTGTGGTCAAGTTGAC	0.532000														98			19		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158653211	158653211	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158653211T>C	uc001fst.1	-	2	539	c.340A>G	c.(340-342)Aca>Gca	p.T114A		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	114					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.T114A(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTCCCTTGTTTTTTCCAGT	0.378000														133			11		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717235	2717235	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717235G>A	uc002lwf.3	-	1	728	c.570C>T	c.(568-570)cgC>cgT	p.R190R	DIRAS1_uc021umt.1_Silent_p.R190R	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	190					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCTTGACGCGGTCTGTCC	0.667000														382			27		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126733350	126733350	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126733350C>T	uc003ejg.3	+	11	2634	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	878	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CGAGGCAGGGCGGCACGCGGC	0.697000														89			26		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395285	115395285	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395285G>A	uc003ebr.2	+	2	1238	c.564G>A	c.(562-564)ccG>ccA	p.P188P	GAP43_uc003ebq.2_Silent_p.P152P	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	152					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		ATAACTCGCCGTCCTCCAAGG	0.617000														113			24		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396407	17396407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17396407C>T	uc011kye.2	+	0	122	c.74C>T	c.(73-75)cCg>cTg	p.P25L	SLC7A2_uc011kyc.2_Intron|SLC7A2_uc011kyd.2_Missense_Mutation_p.P25L	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCTGCCCCACCGGTTTGCGAC	0.418000														93			20		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137599964	137599964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137599964C>T	uc003lcn.3	-	1	505	c.365G>A	c.(364-366)cGt>cAt	p.R122H	GFRA3_uc003lco.3_Missense_Mutation_p.R122H	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	122					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GCTGCGGGCACGGTGAACGGT	0.547000														148			28		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084043	31084043	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084043C>T	uc003nsm.2	-	1	1405	c.1349G>A	c.(1348-1350)aGc>aAc	p.S450N	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	450	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GCTGGACTTGCTGCCACAAGG	0.612000														81			26		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280674	17280674	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17280674C>T	uc002zlv.3	-	2	674	c.576G>A	c.(574-576)tgG>tgA	p.W192*	XKR3_uc011agf.2_Nonsense_Mutation_p.W192*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	192						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TATTCAAAGGCCATTCTCGTA	0.348000														119			20		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77649134	77649134	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77649134T>G	uc003ugx.3	-	21	4120	c.3866A>C	c.(3865-3867)aAa>aCa	p.K1289T	MAGI2_uc003ugy.3_Missense_Mutation_p.K1275T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1289						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGTTCCCGTTTGATATCCCA	0.622000														168			31		0	0	1	0	0
RASSF6	166824	broad.mit.edu	37	4	74447568	74447568	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74447568C>A	uc003hhd.1	-	7	906	c.783G>T	c.(781-783)caG>caT	p.Q261H	RASSF6_uc003hhc.1_Missense_Mutation_p.Q229H|RASSF6_uc010iik.1_Missense_Mutation_p.Q195H|RASSF6_uc010iil.1_Missense_Mutation_p.Q217H	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	261	Ras-associating.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAGCAAAATCCTGGGGACTAT	0.383000														58			8		5.4927e-09	6.0639e-09	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31289327	31289327	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31289327G>A	uc002ebr.3	+	11	1351	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ITGAM_uc002ebq.3_Missense_Mutation_p.S418N|ITGAM_uc010cam.1_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	418					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGGGTGCAAAGCCTGGTTCTG	0.587000														19			4		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530402	125530402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530402G>A	uc010flu.3	+	16	2924	c.2560G>A	c.(2560-2562)Gat>Aat	p.D854N	CNTNAP5_uc002tno.3_Missense_Mutation_p.D853N	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	853	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTTTGCCATCGATGTTGGGAA	0.502000														116			34		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78419498	78419498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78419498C>T	uc001ozl.4	-	26	4580	c.4117G>A	c.(4117-4119)Gat>Aat	p.D1373N		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1373					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCATTCTGATCGATGCGTCTG	0.512000														53			10		0	0	1	0	0
AQR	9716	broad.mit.edu	37	15	35196597	35196597	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35196597C>A	uc001ziv.3	-	18	2122	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	647						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CATACACATCCTCTGCTCCAT	0.328000														52			5		0.0215528	0.0217347	1	1	0
PTPRT	11122	broad.mit.edu	37	20	40827959	40827959	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40827959G>A	uc002xkg.3	-	15	2596	c.2412C>T	c.(2410-2412)gcC>gcT	p.A804A	PTPRT_uc010ggj.3_Silent_p.A823A|PTPRT_uc010ggi.3_Silent_p.A7A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	804					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R803R(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGGTTTGTCGGCAGAGGCCA	0.557000														438			97		0	0	1	0	0
C13orf35	400165	broad.mit.edu	37	13	113333706	113333706	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113333706G>T	uc001vsh.1	+	1	771	c.13G>T	c.(13-15)Gag>Tag	p.E5*		NM_207440	NP_997323	Q6ZP68	CM035_HUMAN	Homo sapiens chromosome 13 open reading frame 35 (C13orf35), mRNA.	5										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			GAACTCACCAGAGGCGAGGCT	0.557000														71			16		2.35188e-11	2.67805e-11	1	1	0
CFLAR	8837	broad.mit.edu	37	2	201994608	201994608	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994608A>G	uc002uxb.4	+	1	485	c.20A>G	c.(19-21)cAt>cGt	p.H7R	CFLAR_uc002uwy.3_Missense_Mutation_p.H7R|CFLAR_uc002uwz.3_Missense_Mutation_p.H7R|CFLAR_uc010zhk.2_Intron|CFLAR_uc010zhl.2_Intron|CFLAR_uc002uxc.4_Missense_Mutation_p.H7R|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Missense_Mutation_p.H7R|CFLAR_uc002uxe.2_Missense_Mutation_p.H7R|CFLAR_uc021vuw.1_Missense_Mutation_p.H7R|CFLAR_uc010fsx.3_Missense_Mutation_p.H7R|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Missense_Mutation_p.H7R	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	7	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GAAGTCATCCATCAGGTTGAA	0.493000														222			75		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47671525	47671525	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47671525G>T	uc002zir.1	-	19	4244	c.4208C>A	c.(4207-4209)gCt>gAt	p.A1403D	MCM3AP-AS1_uc002zim.2_Non-coding_Transcript|MCM3AP-AS1_uc002zin.2_3'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.A144D|MCM3AP_uc002ziq.1_Missense_Mutation_p.A330D|MCM3AP-AS1_uc002zis.1_Non-coding_Transcript	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1403					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATCCCACCAGCATCGCTGGA	0.373000														40			11		3.07112e-06	3.25591e-06	1	1	0
FKRP	79147	broad.mit.edu	37	19	47259280	47259280	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47259280C>T	uc002pfn.2	+	3	870	c.573C>T	c.(571-573)tgC>tgT	p.C191C	FKRP_uc002pfp.2_Silent_p.C191C|FKRP_uc021uwj.1_Silent_p.C191C	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	191						Golgi apparatus|extracellular space|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CGCCCCGCTGCGACGCCCTGG	0.741000														23			9		0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708179	167708179	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167708179G>A	uc003qvq.3	+	1	437	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	UNC93A_uc003qvr.3_Missense_Mutation_p.A88T	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	88						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CAACTTCTTCGCCAGCTGGTA	0.617000														293			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107049117	107049117	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107049117C>T	uc021ser.1	-	167		c.7010G>A								Parts of antibodies, mostly variable regions.																		AGCCAAAACTCCATGGTGAGT	0.498000														287			57		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42857101	42857101	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42857101T>G	uc002otl.4	+	18	3806	c.3171T>G	c.(3169-3171)caT>caG	p.H1057Q	MEGF8_uc002otm.4_Missense_Mutation_p.H665Q	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1124						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACTGTGGCCATGGTGTGTGCA	0.682000														26			5		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180055887	180055887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180055887G>A	uc003mlz.4	-	7	1177	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FLT4_uc003mma.4_Silent_p.F366F|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Silent_p.F366F|FLT4_uc011dgz.1_3'UTR	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	366	Ig-like C2-type 4.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTACCACTGGAACTCGGGCG	0.657000														129			21		0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48486146	48486146	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48486146G>A	uc003gyc.2	+	0	787	c.568G>A	c.(568-570)Gtt>Att	p.V190I		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	190						integral to membrane	bile acid:sodium symporter activity	p.V190L(2)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						GTCCCTGCTGGTTGACGGCGA	0.617000														106			30		0	0	1	0	0
MIA3	375056	broad.mit.edu	37	1	222818937	222818937	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222818937T>C	uc001hnl.3	+	6	3528	c.3519T>C	c.(3517-3519)gaT>gaC	p.D1173D	MIA3_uc009xea.1_Silent_p.D1009D|MIA3_uc001hnm.3_Silent_p.D51D	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1173					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CTGGGCCTGATTTTTATGGAC	0.378000														29			23		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59284508	59284508	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59284508G>A	uc001sqr.3	-	3	700	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	LRIG3_uc009zqh.3_Missense_Mutation_p.L92F|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	152						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTGCTGCTAAGGTCCAAAGTT	0.383000			T	ROS1	NSCLC									52			11		0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261152	158261152	+	Missense_Mutation	SNP	G	A	A	rs114534381	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158261152G>A	uc001fru.3	+	1	582	c.290G>A	c.(289-291)cGg>cAg	p.R97Q	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	97					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R97G(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GGATTAACTCGGGAGATTCAA	0.363000														104			40		0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142467232	142467232	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142467232C>T	uc003evc.3	+	3	698	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S	TRPC1_uc003evb.3_Missense_Mutation_p.P154S	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	188					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTACCCAAGCCCCATGCAGT	0.383000														177			32		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106937871	106937871	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106937871C>T	uc001kyi.1	+	13	2176	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	SORCS3_uc010qqz.1_Intron	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	650						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTTTCACTTCGGTTCCTCTC	0.473000														75			24		0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021850	3021850	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021850G>A	uc002csj.4	+	2	1057	c.723G>A	c.(721-723)caG>caA	p.Q241Q	PAQR4_uc002csk.4_Silent_p.Q202Q|PAQR4_uc002csl.4_Silent_p.Q167Q|PAQR4_uc010uwm.2_Silent_p.Q172Q	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	241						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTCCCACCAGATCATGCACC	0.677000														128			26		0	0	1	0	0
ELMOD3	84173	broad.mit.edu	37	2	85598230	85598230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85598230C>T	uc010ysn.2	+	6	724	c.382C>T	c.(382-384)Cga>Tga	p.R128*	ELMOD3_uc010fgg.2_Non-coding_Transcript|ELMOD3_uc002spf.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002spg.4_Nonsense_Mutation_p.R128*|ELMOD3_uc002sph.4_Nonsense_Mutation_p.R128*|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	128					phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GCCAACTATTCGAAGGACTGG	0.547000														387			17		0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104453770	104453770	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104453770C>T	uc003yln.3	+	9	1907	c.1630C>T	c.(1630-1632)Cgt>Tgt	p.R544C		NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	392					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						ACGTATAGCTCGTCATCGACA	0.383000														114			26		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56035650	56035650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56035650C>T	uc003pcs.3	-	4	1055	c.823G>A	c.(823-825)Gaa>Aaa	p.E275K	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.E275K|COL21A1_uc003pcu.1_Missense_Mutation_p.E275K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	275	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GGAAGACCTTCTGGGAAAACA	0.348000														19			6		0	0	1	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28365827	28365827	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28365827G>A	uc011dlh.2	-	1	535	c.356C>T	c.(355-357)aCt>aTt	p.T119I	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						CTCCAGCACAGTCACCACCTC	0.522000														81			15		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20790055	20790055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20790055G>A	uc001reh.2	+	8	2063	c.2023G>A	c.(2023-2025)Gaa>Aaa	p.E675K	PDE3A_uc021qwa.1_Missense_Mutation_p.E353K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	675					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTGCTCCCGAACCTCTTGT	0.338000														47			6		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37138820	37138820	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37138820A>G	uc011cpa.1	-	45	8861	c.8630_splice	c.e45+1	p.R2877_splice	C5orf42_uc003jkp.1_Splice_Site|C5orf42_uc011coy.1_Splice_Site_p.R1395_splice|C5orf42_uc003jks.2_Splice_Site|C5orf42_uc011coz.1_Splice_Site_p.R1970_splice	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2877										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAATGATTACCTGGAGGTG	0.308000														102			8		0	0	1	0	0
ABCC10	89845	broad.mit.edu	37	6	43400424	43400424	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43400424G>T	uc003ouy.1	+	2	921	c.706G>T	c.(706-708)Ggg>Tgg	p.G236W	ABCC10_uc003ouz.1_Missense_Mutation_p.G193W	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	236						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.Y235C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GCTGGCCCGTGGGGCCTGTGG	0.637000														189			42		2.00842e-17	2.41055e-17	1	1	0
STAB2	55576	broad.mit.edu	37	12	104157272	104157272	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104157272G>A	uc001tjw.3	+	67	7677	c.7491G>A	c.(7489-7491)tcG>tcA	p.S2497S	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2497					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	p.S2497S(2)|p.E2496K(1)		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						CCAAACAGTCGGAAGAGGACA	0.527000														328			114		0	0	1	0	0
ASB5	140458	broad.mit.edu	37	4	177138127	177138127	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177138127G>A	uc003iuq.2	-	5	818	c.704C>T	c.(703-705)aCt>aTt	p.T235I	ASB5_uc003iup.2_Missense_Mutation_p.T182I	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	235					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATGTAATGGAGTATCCCAATA	0.388000														154			38		0	0	1	0	0
ARMC2	84071	broad.mit.edu	37	6	109283323	109283323	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109283323G>A	uc003pss.4	+	14	2319	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q	ARMC2_uc011eao.2_Silent_p.Q550Q	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	715							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		TCATTGTGCAGAACAATGGTG	0.398000														14			4		0	0	1	0	0
TRIM26	7726	broad.mit.edu	37	6	30166750	30166750	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30166750C>T	uc003npr.3	-	2	340	c.131G>A	c.(130-132)cGc>cAc	p.R44H	TRIM26_uc003nps.3_Missense_Mutation_p.R44H|TRIM26_uc003npt.3_Missense_Mutation_p.R44H|TRIM26_uc010jry.3_5'UTR|TRIM26_uc003npu.1_Missense_Mutation_p.R44H	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	44							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TGAGATGGGGCGGACGTCTGT	0.602000														107			18		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31040060	31040060	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31040060C>T	uc002nsu.1	+	3	3672	c.3534C>T	c.(3532-3534)aaC>aaT	p.N1178N	ZNF536_uc010edd.1_Silent_p.N1178N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGAGAACAACGATGAAGAGG	0.552000														141			47		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026582	61026582	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61026582C>A	uc001nra.3	-	19	2712	c.2433G>T	c.(2431-2433)caG>caT	p.Q811H	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	811						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGGTAAAGTCTGTGTTTTCA	0.582000														84			6		2.7689e-08	3.02839e-08	1	1	0
DHX38	9785	broad.mit.edu	37	16	72141387	72141387	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72141387G>A	uc002fcb.3	+	19	3104	c.2749G>A	c.(2749-2751)Gag>Aag	p.E917K	DHX38_uc010vmp.2_Missense_Mutation_p.E229K	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	917					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P916P(1)		endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCCGCCCCCGGAGGACAACAT	0.632000														123			28		0	0	1	0	0
PRKCI	5584	broad.mit.edu	37	3	170009678	170009678	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170009678T>C	uc003fgs.2	+	12	1478	c.1240T>C	c.(1240-1242)Tgt>Cgt	p.C414R	PRKCI_uc003fgt.2_5'UTR	NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	414	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAGCACTTTCTGTGGTACTCC	0.333000														46			16		0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107084366	107084366	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107084366T>C	uc004enl.3	+	1	1044	c.471T>C	c.(469-471)tgT>tgC	p.C157C	MID2_uc004enk.3_Silent_p.C157C	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						GCATCACCTGTGAGGTCTCCT	0.567000														80			17		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154335	74154335	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154335C>T	uc021ulp.1	-	2	994	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A226V(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCCTGCGCGGTGATGTGG	0.697000														89			23		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128651740	128651740	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128651740C>T	uc003ifl.3	+	0	186	c.40C>T	c.(40-42)Ctg>Ttg	p.L14L		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	14					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGAAAAGCGGCTGTTTGACGC	0.567000														175			8		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179291064	179291064	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179291064T>C	uc003mlh.3	-	21	3172	c.3137A>G	c.(3136-3138)gAc>gGc	p.D1046G	TBC1D9B_uc003mli.3_Missense_Mutation_p.D1029G|TBC1D9B_uc003mlj.3_Missense_Mutation_p.D1028G|TBC1D9B_uc003mlf.3_Missense_Mutation_p.D120G|TBC1D9B_uc003mlg.3_Missense_Mutation_p.D205G|TBC1D9B_uc011dgv.2_Missense_Mutation_p.D205G	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	1046						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGGTACAGGTCCTGCTCCAT	0.562000														96			38		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37208886	37208886	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37208886T>C	uc002rpp.1	-	35	6059	c.5963A>G	c.(5962-5964)gAt>gGt	p.D1988G	HEATR5B_uc010ezy.1_Missense_Mutation_p.D483G	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1988							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AGAATTTTCATCCAGCAGGTA	0.358000														100			40		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64532268	64532268	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64532268C>T	uc001xgl.3	+	50	10561	c.10331C>T	c.(10330-10332)tCg>tTg	p.S3444L	SYNE2_uc001xgm.3_Missense_Mutation_p.S3444L|SYNE2_uc021ruh.1_Missense_Mutation_p.S3477L|SYNE2_uc010apw.1_Missense_Mutation_p.S150L	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3444					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.S3444L(2)|p.S3444>?(2)|p.S3444S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGATTGTGTCGGCTCTGTGG	0.433000														74			26		0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74771152	74771152	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74771152G>T	uc002jta.2	+	11	1921	c.948G>T	c.(946-948)ctG>ctT	p.L316L	MFSD11_uc002jtd.4_Silent_p.L316L|MFSD11_uc002jtb.3_Silent_p.L316L|MFSD11_uc002jtc.3_Silent_p.L316L|MFSD11_uc002jte.3_Silent_p.L316L|MFSD11_uc010dhb.3_Silent_p.L264L|MFSD11_uc010dha.3_Silent_p.L264L	NM_001242534	NP_001229463	O43934	MFS11_HUMAN	Homo sapiens major facilitator superfamily domain containing 11 (MFSD11), transcript variant 3, mRNA.	316						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGGCATCCTGGTGCACTTCA	0.453000														206			48		3.05275e-18	3.6841e-18	1	1	0
SHCBP1L	81626	broad.mit.edu	37	1	182869360	182869360	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182869360C>A	uc001gpu.3	-	9	2005	c.1720G>T	c.(1720-1722)Gca>Tca	p.A574S	SHCBP1L_uc001gpv.3_Missense_Mutation_p.A455S|SHCBP1L_uc010pnz.2_Missense_Mutation_p.A432S|SHCBP1L_uc001gpw.3_Missense_Mutation_p.A294S	NM_030933	NP_112195	Q9BZQ2	SHP1L_HUMAN	Homo sapiens SHC SH2-domain binding protein 1-like (SHCBP1L), mRNA.	646										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						AATTTGGGTGCTGGAAGAACC	0.274000														36			5		0.014758	0.0149061	1	1	0
EP300	2033	broad.mit.edu	37	22	41572357	41572357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41572357C>T	uc003azl.4	+	29	5281	c.4886C>T	c.(4885-4887)gCg>gTg	p.A1629V		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1629	Binding region for E1A adenovirus.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.A1629V(4)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGTCGGGATGCGTTTCTCACG	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					206			53		0	0	1	0	0
MALSU1	115416	broad.mit.edu	37	7	23349053	23349053	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23349053A>G	uc003swd.1	+	3	628	c.596A>G	c.(595-597)tAt>tGt	p.Y199C	MALSU1_uc003swe.3_Non-coding_Transcript	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	Homo sapiens chromosome 7 open reading frame 30 (C7orf30), mRNA.	199						mitochondrion											CTACGTTCTTATGATGACCAG	0.403000														126			26		0	0	1	0	0
CCDC12	151903	broad.mit.edu	37	3	46964964	46964964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46964964C>T	uc011baq.2	-	3	487	c.478G>A	c.(478-480)Gtc>Atc	p.V160I	CCDC12_uc003cqo.2_Intron	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	0										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		aggagagggacgagagcaaag	0.587000											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			9		0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	70014281	70014281	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:70014281A>G	uc003dnz.3	+	9	1608	c.1445A>G	c.(1444-1446)gAc>gGc	p.D482G	MITF_uc011bgb.2_Missense_Mutation_p.D430G|MITF_uc003doa.3_Missense_Mutation_p.D481G|MITF_uc003dob.3_Missense_Mutation_p.D466G|MITF_uc021xam.1_Missense_Mutation_p.D319G|MITF_uc003doe.3_Missense_Mutation_p.D375G|MITF_uc003dof.3_Missense_Mutation_p.D381G	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	488					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTGATGGACGACACCCTTTCT	0.532000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""							106			23		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279584	1279584	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1279584G>T	uc001lta.3	+	42	16639	c.16580G>T	c.(16579-16581)gGc>gTc	p.G5527V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5527	VWFC 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCGTACAATGGCACCTTCTAC	0.627000														31			9		1.12685e-05	1.18529e-05	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1265997	1265997	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1265997G>A	uc001lta.3	+	30	7946	c.7887G>A	c.(7885-7887)acG>acA	p.T2629T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2629	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T2629T(2)|p.R2628L(1)|p.T2608T(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCACGCACGCTTCCAGTGT	0.637000														186			49		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518467	64518467	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64518467G>T	uc001xgl.3	+	47	8066	c.7836G>T	c.(7834-7836)caG>caT	p.Q2612H	SYNE2_uc001xgm.3_Missense_Mutation_p.Q2612H|SYNE2_uc021ruh.1_Missense_Mutation_p.Q2645H	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2612					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGTGGAACAGCAGATTCAAA	0.398000														129			21		3.51602e-12	4.04451e-12	1	1	0
PARP16	54956	broad.mit.edu	37	15	65578689	65578689	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65578689G>A	uc002aoq.3	-	0	330	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	PARP16_uc002aoo.3_Missense_Mutation_p.L26F|PARP16_uc002aop.3_Missense_Mutation_p.L26F	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	26						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAGGCGAAGAGGCTGCACCGG	0.726000														39			9		0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170926947	170926947	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:170926947C>T	uc003isp.4	-	1	260	c.82G>A	c.(82-84)Gct>Act	p.A28T	MFAP3L_uc003isn.4_5'Flank	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	28						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		ACACTCTTAGCGGTGGCTAGA	0.458000														112			7		0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166819057	166819057	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166819057A>G	uc001gdt.1	+	4	1361	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	POGK_uc010ple.1_Missense_Mutation_p.Y329C|POGK_uc010plf.1_Missense_Mutation_p.Y296C	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	414	DDE.				multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding	p.P413Q(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TTACCACCGTACATCATTTTG	0.512000														118			17		0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121341856	121341856	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121341856C>T	uc003eeg.2	+	2	1790	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	527					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CATTTCCGTCCCCCAGGGCAA	0.502000														89			23		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77975329	77975329	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77975329G>A	uc003ugx.3	-	7	1389	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	MAGI2_uc003ugy.3_Missense_Mutation_p.P379S|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Missense_Mutation_p.P211S|MAGI2_uc011kgs.1_Missense_Mutation_p.P216S|RPL13AP17_uc010ldz.3_5'Flank	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	379	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TCCAGGACAGGATTTTCAAAC	0.423000														103			20		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18888081	18888081	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18888081C>T	uc010ebv.3	+	14	1930	c.1842C>T	c.(1840-1842)gaC>gaT	p.D614D	CRTC1_uc002nkb.4_Silent_p.D598D|CRTC1_uc010ebw.3_Silent_p.D434D	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	598					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TTCCCCTGGACGAACTCAAGA	0.632000														690			158		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1805440	1805440	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1805440G>A	uc003gdr.3	+	7	1208	c.952G>A	c.(952-954)Gac>Aac	p.D318N	FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.D318N|FGFR3_uc010icb.1_Missense_Mutation_p.D126N|FGFR3_uc003gdt.1_Missense_Mutation_p.D147N	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	318	Ig-like C2-type 3.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TAACACCACCGACAAGGAGCT	0.607000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					99			17		0	0	1	0	0
TRAM1	23471	broad.mit.edu	37	8	71508556	71508556	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71508556C>T	uc003xyo.2	-	5	687	c.427_splice	c.e5-1	p.E143_splice	TRAM1_uc011lfc.2_Splice_Site_p.E112_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	143	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGTAGTTTTCCTAAGAAAGA	0.373000														92			17		0	0	1	0	0
UBA6	55236	broad.mit.edu	37	4	68490771	68490771	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68490771G>A	uc003hdg.4	-	28	2705	c.2653C>T	c.(2653-2655)Cgc>Tgc	p.R885C		NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	885					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.R885H(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CCAGCTATGCGCTTTGTTTTG	0.373000														73			25		0	0	1	0	0
LRRC14	9684	broad.mit.edu	37	8	145745828	145745828	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145745828C>T	uc003zdk.2	+	2	710	c.536C>T	c.(535-537)gCg>gTg	p.A179V	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.A179V	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	179										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCCTCCTATGCGTTCCTGCGG	0.711000														256			50		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8975302	8975302	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8975302G>T	uc001quz.4	+	0	153	c.55G>T	c.(55-57)Gaa>Taa	p.E19*		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CATTGCAGAAGAACTTCCGTG	0.483000														98			26		3.73808e-20	4.55875e-20	1	1	0
ACTN2	88	broad.mit.edu	37	1	236925910	236925910	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236925910C>T	uc001hyf.2	+	20	2880	c.2676C>T	c.(2674-2676)agC>agT	p.S892S	ACTN2_uc001hyg.2_Silent_p.S684S|ACTN2_uc009xgi.1_Silent_p.S892S|ACTN2_uc010pxu.1_Silent_p.S581S	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	892					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGGGGAGAGCGATCTGTGAT	0.507000														67			13		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72085567	72085567	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72085567C>T	uc001xms.3	+	2	1953	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S531F|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S531F|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S6F	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	531					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GAAAATGGATCTCCGTACAAC	0.403000														69			14		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49934771	49934771	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49934771G>A	uc003cxy.4	-	6	2389	c.2125C>T	c.(2125-2127)Ctg>Ttg	p.L709L	MST1R_uc011bdc.2_Silent_p.L709L|MST1R_uc011bdd.2_Silent_p.L709L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	709	IPT/TIG 2.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CCTACAGACAGACTCTGGCCT	0.592000														145			32		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1381754	1381754	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381754C>T	uc002fsp.3	-	10	1465	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	MYO1C_uc002fsn.3_Silent_p.T396T|MYO1C_uc002fso.3_Silent_p.T380T|MYO1C_uc010vqj.1_Silent_p.T380T|MYO1C_uc010vqk.1_Silent_p.T391T	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	415	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCGAGAACCGTGGTGCTCC	0.637000														191			31		0	0	1	0	0
CPEB4	80315	broad.mit.edu	37	5	173316988	173316988	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:173316988A>G	uc003mcs.4	+	0	1658	c.252A>G	c.(250-252)caA>caG	p.Q84Q	CPEB4_uc010jju.2_Silent_p.Q84Q|CPEB4_uc010jjv.3_Silent_p.Q84Q|CPEB4_uc011dfg.2_Silent_p.Q84Q	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	84							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAGTCAGCAACAGGAACAGC	0.483000														187			19		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926329	8926329	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926329G>A	uc001qux.2	+	6	2372	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_Silent_p.L370L|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	370					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGGGGCCTGTTCAACATGA	0.493000														210			49		0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664529	136664529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664529G>A	uc003erh.3	+	2	461	c.331G>A	c.(331-333)Gct>Act	p.A111T	NCK1_uc011bme.2_Missense_Mutation_p.A47T	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	111					T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CAACATGCCCGCTTATGTGAA	0.438000														161			37		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67559028	67559028	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67559028G>A	uc001ddl.1	-	6	974	c.863C>T	c.(862-864)gCg>gTg	p.A288V	C1orf141_uc001ddm.1_Missense_Mutation_p.A288V|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	288										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGTGTGGCCCGCTTTAAAAGA	0.323000														88			11		0	0	1	0	0
SFRP1	6422	broad.mit.edu	37	8	41122786	41122786	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41122786G>A	uc003xnt.3	-	2	1157	c.845C>T	c.(844-846)aCg>aTg	p.T282M		NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	Homo sapiens secreted frizzled-related protein 1 (SFRP1), mRNA.	282	NTR.				DNA fragmentation involved in apoptotic nuclear change|brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of B cell differentiation|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|negative regulation of androgen receptor signaling pathway|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of Rac GTPase activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			GTGGATGGCCGTCAGCAAGTA	0.498000														109			31		0	0	1	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94643259	94643259	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94643259C>T	uc001dqj.4	-	21	3183	c.2814G>A	c.(2812-2814)gaG>gaA	p.E938E	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Silent_p.E504E	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	938					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TGCTTTCACTCTCTGAAGTAT	0.333000														65			8		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69348554	69348554	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69348554C>T	uc010kak.3	+	2	262	c.-14_splice	c.e2-1		BAI3_uc003pev.4_Splice_Site	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.						negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTTTTACAGGCCAAATGACAT	0.378000														93			19		0	0	1	0	0
NRG1	3084	broad.mit.edu	37	8	32621526	32621526	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:32621526A>G	uc003xiv.2	+	11	2046	c.1529A>G	c.(1528-1530)aAc>aGc	p.N510S	NRG1_uc022ats.1_Missense_Mutation_p.N460S|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.N515S|NRG1_uc003xiw.2_Missense_Mutation_p.N507S|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.N252S|NRG1_uc010lvs.2_Missense_Mutation_p.N252S|NRG1_uc010lvp.2_Missense_Mutation_p.N464S|NRG1_uc010lvq.2_Missense_Mutation_p.N440S|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.N353S|NRG1_uc003xja.2_Missense_Mutation_p.N321S	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	510					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CATGACAGTAACAGCCTCCCT	0.547000														94			18		0	0	1	0	0
EXOC1	55763	broad.mit.edu	37	4	56770575	56770575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56770575C>T	uc003hbe.1	+	18	2757	c.2599C>T	c.(2599-2601)Cgc>Tgc	p.R867C	EXOC1_uc003hbf.1_Missense_Mutation_p.R867C|EXOC1_uc003hbg.1_Missense_Mutation_p.R852C	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	867					exocytosis|protein transport	exocyst	protein binding	p.R867C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTTGATAGCTCGCTGTTATCC	0.383000														98			23		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263465	34263465	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263465C>T	uc002nus.4	+	4	1277	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C	CHST8_uc002nut.4_Missense_Mutation_p.R258C|CHST8_uc002nuu.3_Missense_Mutation_p.R258C	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	258					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTTTGTCCGCGAGCCCTT	0.607000														249			48		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113173864	113173864	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113173864C>T	uc010mtz.3	-	36	6464	c.6127G>A	c.(6127-6129)Gca>Aca	p.A2043T	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2043	Sushi 11.				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						TAGTAGAATGCAATGTCTCCA	0.552000														42			6		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444459	179444459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179444459C>T	uc021vsy.1	-	267	59986	c.59761G>A	c.(59761-59763)Gat>Aat	p.D19921N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13616N|TTN_uc021vta.1_Missense_Mutation_p.D13549N|TTN_uc021vtb.1_Missense_Mutation_p.D13424N|AX746670_uc002umv.1_3'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20848	Fibronectin type-III 44.						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)			GTCAGGAAATCAACTACATAT	0.413000														109			20		0	0	1	0	0
C2orf48	348738	broad.mit.edu	37	2	10350578	10350578	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10350578T>C	uc021vds.1	+	2	364	c.335T>C	c.(334-336)tTc>tCc	p.F112S		NM_182626	NP_872432	Q96LS8	CB048_HUMAN	Homo sapiens chromosome 2 open reading frame 48 (C2orf48), mRNA.	112										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		CGACCCTGTTTCAGAATGAAG	0.572000														165			33		0	0	1	0	0
MAFF	23764	broad.mit.edu	37	22	38610487	38610487	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610487T>C	uc003avd.3	+	2	300	c.245T>C	c.(244-246)gTc>gCc	p.V82A	MAFF_uc011anp.2_Missense_Mutation_p.S33P|MAFF_uc003avc.3_Missense_Mutation_p.S33P|MAFF_uc011anq.2_Missense_Mutation_p.S4P|MAFF_uc011anr.2_Missense_Mutation_p.S33P|MAFF_uc021wpn.1_Missense_Mutation_p.S4P	NM_012323	NP_036455	Q9ULX9	MAFF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) (MAFF), transcript variant 1, mRNA.	0					blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					GATGGGGCTGTCGGTGCGCGA	0.672000														80			8		0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1808341	1808341	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1808341T>C	uc003gdr.3	+	15	2355	c.2099T>C	c.(2098-2100)gTg>gCg	p.V700A	FGFR3_uc003gdu.2_Missense_Mutation_p.V702A|FGFR3_uc003gds.3_Missense_Mutation_p.V588A|FGFR3_uc003gdq.3_Silent_p.C677C	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	700	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCATCCCTGTGGAGGAGCTC	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					79			23		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78571064	78571064	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78571064A>G	uc001syp.3	+	26	5441	c.5268A>G	c.(5266-5268)gcA>gcG	p.A1756A	NAV3_uc001syo.3_Silent_p.A1756A|NAV3_uc010sub.2_Silent_p.A1235A|NAV3_uc009zsf.3_Silent_p.A587A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1756						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GTGGCTCAGCATCCATGAAGC	0.433000										HNSCC(70;0.22)				157			39		0	0	1	0	0
PPP2CB	5516	broad.mit.edu	37	8	30655229	30655229	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30655229G>A	uc003xik.3	-	2	769	c.354C>T	c.(352-354)caC>caT	p.H118H		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	118					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding	p.H118H(2)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GTCGGCTTTCGTGATTTCCTC	0.363000														59			7		0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187454932	187454932	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187454932C>T	uc003izd.1	-	1	982	c.964G>A	c.(964-966)Gac>Aac	p.D322N		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	322					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	TTAGAGCTGTCCACAAAGAAC	0.448000														163			56		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19166187	19166187	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19166187G>T	uc002nld.3	+	6	1569	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H	ARMC6_uc002nlc.3_Missense_Mutation_p.Q354H|ARMC6_uc010xql.2_Missense_Mutation_p.Q286H|ARMC6_uc010xqm.2_Missense_Mutation_p.Q379H	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	379							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CTATGACCCAGCATCTGACCA	0.587000														124			28		3.73148e-12	4.28986e-12	1	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64138976	64138976	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64138976G>A	uc003dmf.3	-	5	1255	c.669C>T	c.(667-669)ttC>ttT	p.F223F		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	223	LIM zinc-binding 2.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCTCACACTCGAAGCAGCAAA	0.512000														197			49		0	0	1	0	0
CTSS	1520	broad.mit.edu	37	1	150724344	150724344	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150724344G>A	uc001evn.3	-	4	801	c.540C>T	c.(538-540)tgC>tgT	p.C180C	CTSS_uc010pcj.2_Silent_p.C130C	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	180					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACCATTGCAGCCTTTGT	0.488000														197			24		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61507115	61507115	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61507115A>C	uc001nsa.3	+	16	1951	c.1835A>C	c.(1834-1836)cAc>cCc	p.H612P		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	612					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GTCCACAACCACCCTGCAGAG	0.657000														78			19		0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25972122	25972122	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25972122A>C	uc003nfm.3	+	4	968	c.533A>C	c.(532-534)aAa>aCa	p.K178T	TRIM38_uc010jqd.3_5'Flank	NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	178					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CAGAGACAAAAAATCCGGTCT	0.403000														59			14		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	146997591	146997591	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:146997591C>A	uc010jgo.1	-	17	2377	c.2229G>T	c.(2227-2229)caG>caT	p.Q743H	JAKMIP2_uc003loq.1_Missense_Mutation_p.Q743H|JAKMIP2_uc011dbx.1_Missense_Mutation_p.Q701H|JAKMIP2_uc003lor.1_Missense_Mutation_p.Q722H|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	743						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCCTCTTGCTGTTTTTCAC	0.423000														117			19		1.56452e-12	1.80666e-12	1	1	0
abParts	0	broad.mit.edu	37	14	106791288	106791288	+	RNA	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106791288A>C	uc021ser.1	-	619		c.17104T>G								Parts of antibodies, mostly variable regions.																		AGACTCCACCAGCTGCACCTG	0.542000														394			29		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70953285	70953285	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70953285T>C	uc001swb.4	-	15	3928	c.3898A>G	c.(3898-3900)Aga>Gga	p.R1300G	PTPRB_uc010sto.2_Missense_Mutation_p.R1210G|PTPRB_uc010stp.2_Missense_Mutation_p.R1210G|PTPRB_uc001swc.4_Missense_Mutation_p.R1518G|PTPRB_uc001swa.4_Missense_Mutation_p.R1430G|PTPRB_uc001swd.4_Missense_Mutation_p.R1517G|PTPRB_uc009zrr.2_Missense_Mutation_p.R1397G	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1300	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGTGCATCTCTGGGCAACCAC	0.478000														241			58		0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	624175	624175	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:624175C>T	uc003siu.2	-	7	872	c.739G>A	c.(739-741)Gag>Aag	p.E247K	PRKAR1B_uc021zyi.1_Missense_Mutation_p.E247K|PRKAR1B_uc003siv.3_Missense_Mutation_p.E247K|PRKAR1B_uc021zyj.1_Missense_Mutation_p.E247K|PRKAR1B_uc021zyk.1_Missense_Mutation_p.E247K|PRKAR1B_uc003siw.2_Missense_Mutation_p.E247K|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	p.E247K(2)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		AGGAACTCCTCGTACATCTTG	0.567000														64			12		0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	676654	676654	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:676654G>A	uc003gay.3	-	8	1237	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	MFSD7_uc003gaw.3_Silent_p.L136L|MFSD7_uc003gax.3_Silent_p.L393L|MFSD7_uc003gaz.3_Silent_p.L275L	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	394					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GTCATTGCCAGCATGATGAGT	0.642000														28			11		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803779	113803779	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803779C>A	uc001vsx.3	+	7	1472	c.1415C>A	c.(1414-1416)cCc>cAc	p.P472H	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	472					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGGCTTGCCCAAGGCCAAG	0.582000														182			28		1.88708e-17	2.26542e-17	1	1	0
PPP1R26	9858	broad.mit.edu	37	9	138377010	138377010	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377010C>T	uc022bpi.1	+	0	654	c.654C>T	c.(652-654)agC>agT	p.S218S	PPP1R26_uc004cfr.1_Silent_p.S218S	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	218						nucleolus	protein binding										GTGTGAGCAGCGATGACTCCT	0.562000														241			44		0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49719388	49719388	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49719388G>A	uc009zlh.3	+	3	609	c.442G>A	c.(442-444)Gct>Act	p.A148T	TROAP_uc001rtx.4_Missense_Mutation_p.A148T	NM_005480	NP_005471	Q12815	TROAP_HUMAN	Homo sapiens trophinin associated protein (tastin) (TROAP), transcript variant 1, mRNA.	148					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTAGTCTGGCTAAAAGAGT	0.597000														131			22		0	0	1	0	0
BC034929	0	broad.mit.edu	37	19	55703006	55703006	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55703006C>T	uc002qjr.3	+	1	108	c.90C>T	c.(88-90)ggC>ggT	p.G30G	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjq.3_Intron					Homo sapiens, clone IMAGE:4553293, mRNA.																		ACCCTCCAGGCGGTCAGCCCT	0.577000														164			42		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31486629	31486629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31486629G>A	uc003jhg.2	-	12	2242	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	DROSHA_uc003jhh.2_Missense_Mutation_p.T591M|DROSHA_uc003jhi.2_Missense_Mutation_p.T591M	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	628	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.T628T(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GAAATGAATCGTGTAGTCTAT	0.378000														66			18		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31362299	31362299	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31362299T>G	uc021sia.1	-	2	579	c.265A>C	c.(265-267)Agc>Cgc	p.S89R	TRPM1_uc010azy.3_5'Flank|TRPM1_uc001zfl.3_5'Flank|TRPM1_uc021shz.1_Missense_Mutation_p.S72R|TRPM1_uc001zfm.3_Missense_Mutation_p.S50R|TRPM1_uc001zfn.4_Missense_Mutation_p.S50R|TRPM1_uc010ubn.1_Non-coding_Transcript	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	50					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTTGGGTAGCTCTGGGTGTGC	0.493000														681			165		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24952420	24952420	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24952420G>A	uc002rfk.3	+	14	3196	c.2937G>A	c.(2935-2937)acG>acA	p.T979T	NCOA1_uc010eye.3_Silent_p.T979T|NCOA1_uc002rfi.3_Silent_p.T828T|NCOA1_uc002rfj.3_Silent_p.T979T|NCOA1_uc002rfl.3_Silent_p.T979T	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	979	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACAAGCAACGCCACCTTTGA	0.428000			T	PAX3	alveolar rhadomyosarcoma									154			44		0	0	1	0	0
STMN2	11075	broad.mit.edu	37	8	80549083	80549083	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:80549083C>T	uc022awk.1	+	1	448	c.66C>T	c.(64-66)tgC>tgT	p.C22C	STMN2_uc003ybj.3_Silent_p.C22C|STMN2_uc010lzp.3_Non-coding_Transcript	NM_001199214	NP_001186143	Q93045	STMN2_HUMAN	Homo sapiens stathmin-like 2 (STMN2), transcript variant 1, mRNA.	22	Membrane attachment (Potential).				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CACTGATCTGCTCTTGCTTTT	0.393000														90			18		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836605	55836605	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836605G>T	uc001xbx.2	-	9	1247	c.1211C>A	c.(1210-1212)tCc>tAc	p.S404Y	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Missense_Mutation_p.S291Y	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	404					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						AAATTCCATGGACTCCTCAAG	0.512000														136			25		1.64293e-13	1.91604e-13	1	1	0
RFX6	222546	broad.mit.edu	37	6	117203554	117203554	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117203554C>A	uc003pxm.3	+	3	592	c.529C>A	c.(529-531)Cta>Ata	p.L177I		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	177					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTTTCCCCTCCTAACAACAAG	0.403000														51			18		8.34094e-07	8.90579e-07	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111060647	111060647	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060647G>T	uc001dzt.1	-	0	1151	c.763C>A	c.(763-765)Ctc>Atc	p.L255I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	255						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTCATGTTGAGATTGGGGTCT	0.542000														171			20		2.4624e-09	2.73094e-09	1	1	0
PTPRF	5792	broad.mit.edu	37	1	44071037	44071037	+	Silent	SNP	G	A	A	rs149446507		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44071037G>A	uc001cjr.3	+	17	3652	c.3312G>A	c.(3310-3312)ccG>ccA	p.P1104P	PTPRF_uc001cjs.3_Silent_p.P1095P|PTPRF_uc001cju.3_Silent_p.P482P|PTPRF_uc009vwt.3_Silent_p.P664P|PTPRF_uc001cjv.3_Silent_p.P564P|PTPRF_uc001cjw.3_Silent_p.P330P	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1104					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CTCACAAGCCGCTGCCTGCCT	0.637000														142			19		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530750	80530750	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530750G>A	uc021vjt.1	-	0	195	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Silent_p.S65S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	65	LRRNT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCAGCAGGCCGGACAGGTTGT	0.692000										HNSCC(69;0.2)				158			64		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66459843	66459843	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66459843C>T	uc021xzk.1	+	28	5144	c.4836C>T	c.(4834-4836)agC>agT	p.S1612S	MAST4_uc003jut.2_Silent_p.S1423S|MAST4_uc003juw.3_Silent_p.S1351S|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1615						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGCCAGCGTGCGCGCCA	0.657000														39			8		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312282	113312282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312282G>A	uc010mtz.3	-	1	971	c.634C>T	c.(634-636)Cga>Tga	p.R212*	SVEP1_uc010mua.1_Nonsense_Mutation_p.R212*|SVEP1_uc004beu.2_Nonsense_Mutation_p.R212*|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	212	VWFA.				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						CCTGAATCTCGCAGTGACGCT	0.453000														123			26		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20832995	20832995	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20832995C>T	uc001reh.2	+	15	3256	c.3216C>T	c.(3214-3216)taC>taT	p.Y1072Y	PDE3A_uc021qwa.1_Silent_p.Y750Y	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1072	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GAAAAATCTACTGCCAAATAA	0.378000														107			13		0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17228582	17228582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17228582C>T	uc003wxm.3	-	2	513	c.274G>A	c.(274-276)Gac>Aac	p.D92N		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	92							protein tyrosine phosphatase activity	p.D92N(2)		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)		ATGTACACGTCGTGGCAATCT	0.463000														142			14		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659526	206659526	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659526C>A	uc002vaw.3	+	16	3331	c.2540C>A	c.(2539-2541)tCt>tAt	p.S847Y	NRP2_uc002vax.3_Missense_Mutation_p.S842Y|NRP2_uc002vay.3_Missense_Mutation_p.S825Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	847					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTCAGGGTCTGGCGCCCCC	0.542000														177			42		4.17593e-13	4.85447e-13	1	1	0
TUBA8	51807	broad.mit.edu	37	22	18604408	18604408	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18604408A>C	uc002znw.1	+	0	535	c.238A>C	c.(238-240)Act>Cct	p.T80P	TUBA8_uc002znv.2_Missense_Mutation_p.T56P|TUBA8_uc021wkt.1_5'UTR	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	56					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TTTCAGCGAGACTGGCAATGG	0.557000														93			26		0	0	1	0	0
TMUB2	79089	broad.mit.edu	37	17	42266863	42266863	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42266863G>A	uc002ifo.3	+	2	666	c.509G>A	c.(508-510)aGc>aAc	p.S170N	C17orf65_uc002ifn.3_5'Flank|TMUB2_uc002ifp.3_Missense_Mutation_p.S150N|TMUB2_uc010wiu.2_Missense_Mutation_p.S113N|TMUB2_uc002ifr.3_Intron|TMUB2_uc002ift.3_Missense_Mutation_p.S150N|TMUB2_uc002ifx.3_Intron|TMUB2_uc002ify.3_Non-coding_Transcript	NM_001076674	NP_803190	Q71RG4	TMUB2_HUMAN	Homo sapiens transmembrane and ubiquitin-like domain containing 2 (TMUB2), transcript variant 3, mRNA.	170						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTCCCTCCCAGCCCTGGCCTC	0.602000														163			17		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964326	48964326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48964326G>A	uc010kyv.1	+	0	170	c.58G>A	c.(58-60)Gtg>Atg	p.V20M						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CGACGTGTACGTGGACATCAC	0.547000														122			37		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854087	53854087	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854087C>T	uc010ydv.1	+	3	276	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ZNF845_uc010ydw.1_Silent_p.C53C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTCCAAATGCATGATGAAGG	0.353000														133			24		0	0	1	0	0
NAT10	55226	broad.mit.edu	37	11	34162000	34162000	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34162000C>A	uc001mvk.3	+	23	2717	c.2473C>A	c.(2473-2475)Ctg>Atg	p.L825M	NAT10_uc010ren.2_Missense_Mutation_p.L753M	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	825	Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CCTGAAGCGGCTGGAGATGTA	0.572000														183			40		4.14481e-20	5.0508e-20	1	1	0
DES	1674	broad.mit.edu	37	2	220286186	220286186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220286186G>A	uc002vll.3	+	5	1234	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	383	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGATGGCCCGCCATCTGCGC	0.607000														127			35		0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119181118	119181118	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119181118G>A	uc001pwf.3	-	14	1881	c.1852C>T	c.(1852-1854)Cca>Tca	p.P618S	MCAM_uc001pwg.1_Intron	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	618					anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATCTCTTCTGGGAGCTTATCT	0.602000														244			44		0	0	1	0	0
SEMA4D	10507	broad.mit.edu	37	9	91996226	91996226	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:91996226G>A	uc004aqo.1	-	15	2054	c.1482C>T	c.(1480-1482)ggC>ggT	p.G494G	SEMA4D_uc011ltm.1_Silent_p.G494G|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.G494G	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	494	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CCTGGACCACGCCCGAGTTAG	0.637000														43			7		0	0	1	0	0
RLTPR	146206	broad.mit.edu	37	16	67680837	67680837	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67680837G>A	uc002etn.3	+	7	692	c.572G>A	c.(571-573)cGc>cAc	p.R191H	RLTPR_uc010cel.1_Missense_Mutation_p.R191H|RLTPR_uc010vjr.2_Missense_Mutation_p.R191H	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	191										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CAGGGCTGCCGCCATTTCAGC	0.637000														63			14		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514930	233514930	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514930C>T	uc001hvt.4	+	8	2439	c.2178C>T	c.(2176-2178)tgC>tgT	p.C726C	KIAA1804_uc001hvu.4_Silent_p.C172C	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	726					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TGTATGGGTGCACCGTCCTTC	0.527000														162			23		0	0	1	0	0
HOXB7	3217	broad.mit.edu	37	17	46685370	46685370	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46685370G>A	uc002inv.3	-	1	591	c.488C>T	c.(487-489)aCg>aTg	p.T163M		NM_004502	NP_004493	P09629	HXB7_HUMAN	Homo sapiens homeobox B7 (HOXB7), mRNA.	163						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T163T(2)		NS(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	8						CCGCCGCCGCGTCAGGTAGCG	0.557000														350			30		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73986015	73986015	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73986015A>G	uc003hgp.3	-	20	4006	c.3889T>C	c.(3889-3891)Tat>Cat	p.Y1297H	ANKRD17_uc003hgo.3_Missense_Mutation_p.Y1184H|ANKRD17_uc003hgq.3_Missense_Mutation_p.Y1046H|ANKRD17_uc003hgr.3_Missense_Mutation_p.Y1296H|ANKRD17_uc011cbd.1_Missense_Mutation_p.Y862H	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1297					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACCTCCGCATATCCACCAGAG	0.428000														87			19		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12395787	12395787	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12395787G>A	uc001atv.3	+	38	8595	c.8454G>A	c.(8452-8454)tcG>tcA	p.S2818S	VPS13D_uc001atw.3_Silent_p.S2818S|VPS13D_uc001atx.3_Silent_p.S2006S|VPS13D_uc001aty.1_Silent_p.S556S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2818					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCAAGGAATCGTGGATGGCAG	0.408000														114			10		0	0	1	0	0
PNPT1	87178	broad.mit.edu	37	2	55874502	55874502	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55874502G>A	uc002rzf.2	-	18	1635	c.1582C>T	c.(1582-1584)Cgt>Tgt	p.R528C		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	528					RNA processing|mRNA catabolic process	plasma membrane	3'-5'-exoribonuclease activity|RNA binding|polyribonucleotide nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCAGCAAACGATAATCTTCT	0.313000														115			19		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171243770	171243770	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171243770G>T	uc002ufy.3	+	13	1672	c.1529G>T	c.(1528-1530)aGa>aTa	p.R510I	MYO3B_uc002ufv.3_Missense_Mutation_p.R497I|MYO3B_uc010fqb.1_Missense_Mutation_p.R510I|MYO3B_uc002ufz.3_Missense_Mutation_p.R510I|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	510	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGGGGGCAAGAATCTCTGAA	0.438000														150			25		6.32553e-13	7.33687e-13	1	1	0
GABPA	2551	broad.mit.edu	37	21	27136617	27136617	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27136617C>T	uc002ylx.4	+	7	1049	c.899C>T	c.(898-900)cCg>cTg	p.P300L	GABPA_uc002yly.4_Missense_Mutation_p.P300L	NM_001197297	NP_001184226	Q06546	GABPA_HUMAN	Homo sapiens GA binding protein transcription factor, alpha subunit 60kDa (GABPA), transcript variant 2, mRNA.	300					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAAGAGCGCCGAGGATTTCA	0.358000														73			13		0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460438	27460438	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27460438G>A	uc002dor.2	+	9	2065	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	IL21R_uc002doq.2_Missense_Mutation_p.G484D|IL21R_uc002dos.2_Missense_Mutation_p.G484D|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	484					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CCCCTGGCCGGCCTGGATATG	0.677000			T	BCL6	NHL									165			14		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226573298	226573298	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226573298G>A	uc001hqd.4	-	6	1089	c.918C>T	c.(916-918)agC>agT	p.S306S		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	306					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding	p.S306S(2)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AATAGGCATCGCTCTTGAAGA	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						146			36		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468991	56468991	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56468991A>G	uc021wzo.1	-	0	185	c.45T>C	c.(43-45)ccT>ccC	p.P15P	ERC2_uc003dhr.1_Silent_p.P15P	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	15						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GGGATCTGGAAGGGCTACCTT	0.458000														67			15		0	0	1	0	0
ERLIN1	10613	broad.mit.edu	37	10	101912014	101912014	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101912014G>A	uc001kqn.4	-	10	1272	c.921C>T	c.(919-921)ttC>ttT	p.F307F	ERLIN1_uc001kqo.4_Silent_p.F307F|ERLIN1_uc010qpm.2_Silent_p.F223F	NM_006459	NP_006450	O75477	ERLN1_HUMAN	Homo sapiens ER lipid raft associated 1 (ERLIN1), mRNA.	305					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		AGGAGTCCACGAACATGTTAG	0.458000														87			29		0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207655375	207655375	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207655375C>T	uc002vbu.3	+	10	2388	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	FASTKD2_uc002vbv.3_Missense_Mutation_p.R660W|FASTKD2_uc002vbx.3_Missense_Mutation_p.R660W|FASTKD2_uc002vbw.1_3'UTR	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	660	RAP.				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TATGAAAATGCGGCATTTGAA	0.368000														178			30		0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55237336	55237336	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237336G>A	uc003jqq.3	-	16	2644	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Silent_p.F96F|IL6ST_uc011cqk.2_Silent_p.F488F|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Silent_p.F716F	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	777					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CGGATCTTGAGAAGACTTGGA	0.463000			O		hepatocellular ca									189			48		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451160	55451160	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451160C>A	uc002qih.4	-	3	1103	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	NLRP7_uc010esk.3_Missense_Mutation_p.A343S|NLRP7_uc002qig.4_Missense_Mutation_p.A343S|NLRP7_uc002qii.4_Missense_Mutation_p.A343S|NLRP7_uc010esl.3_Missense_Mutation_p.A371S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	343	NACHT.						ATP binding	p.Q342*(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCACGCATGGCTTGGTCCTCG	0.617000														116			32		9.04072e-19	1.09469e-18	1	1	0
ZNF812	729648	broad.mit.edu	37	19	9806925	9806925	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9806925C>A	uc021uop.1	-	3	517	c.-129_splice	c.e3-1		ZNF812_uc010xkx.2_Splice_Site	NM_001199814	NP_001186743	P0C7V5	ZN812_HUMAN	Homo sapiens zinc finger protein 812 (ZNF812), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						ATTTGAAGTCCTGTTTGTATC	0.428000														20			8		0.0381472	0.038366	1	1	0
NECAP2	55707	broad.mit.edu	37	1	16775694	16775694	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16775694G>A	uc001ayq.3	+	4	577	c.487G>A	c.(487-489)Gca>Aca	p.A163T	NECAP2_uc001ayo.3_Missense_Mutation_p.A163T|NECAP2_uc010ocd.2_Missense_Mutation_p.A137T	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	163					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane		p.I162I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCAACATCGCAGTGAGTTC	0.532000														25			9		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56505335	56505335	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56505335C>T	uc003pcy.4	-	3	593	c.485G>A	c.(484-486)cGc>cAc	p.R162H	DST_uc021zay.1_Missense_Mutation_p.R528H|DST_uc011dxl.1_Missense_Mutation_p.R517H|DST_uc021zax.1_Missense_Mutation_p.R162H|DST_uc003pdc.4_Missense_Mutation_p.R162H|DST_uc003pdd.4_Missense_Mutation_p.R162H|DST_uc003pde.2_Missense_Mutation_p.R604H	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	488	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTCAGTATGCGTCCTTTGCT	0.423000														135			22		0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779547	133779547	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133779547G>T	uc004bzz.3	-	6	1535	c.1290C>A	c.(1288-1290)tcC>tcA	p.S430S	FIBCD1_uc011mcc.2_Silent_p.S430S	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	430	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTCGGCATAGGAGGCGTGCG	0.632000														249			54		1.54043e-34	1.94903e-34	1	1	0
ZBBX	79740	broad.mit.edu	37	3	167031904	167031904	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167031904A>C	uc011bpc.2	-	16	1612	c.1275_splice	c.e16-1	p.S425_splice	ZBBX_uc003feq.3_Splice_Site_p.S396_splice|ZBBX_uc003fep.3_Splice_Site_p.S425_splice	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	425						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GAAAAGCACAACTTTCACATG	0.279000														63			17		0	0	1	0	0
SENP5	205564	broad.mit.edu	37	3	196613102	196613102	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196613102C>A	uc003fwz.4	+	1	1299	c.1050C>A	c.(1048-1050)ggC>ggA	p.G350G	SENP5_uc011bty.2_Silent_p.G350G	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	350					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AACAGAATGGCAGTGCCACAA	0.488000														91			5		0.014758	0.0149061	1	1	0
MLL2	8085	broad.mit.edu	37	12	49420873	49420873	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420873G>A	uc001rta.4	-	47	14876	c.14876C>T	c.(14875-14877)gCc>gTc	p.A4959V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4959	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R4959S(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTTGGGTCGGGCTGATTCAGG	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				235			42		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105179914	105179914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179914C>T	uc001ypb.2	+	19	3154	c.3011C>T	c.(3010-3012)tCc>tTc	p.S1004F	INF2_uc001ypc.2_Missense_Mutation_p.S1004F|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1004					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGGCAGCCTCCATGGATCCC	0.652000														53			14		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19755999	19755999	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19755999A>G	uc002ykw.3	-	3	472	c.441T>C	c.(439-441)aaT>aaC	p.N147N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	147	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GGCTGGATTTATTTGCTTCAA	0.368000														50			4		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72146819	72146819	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72146819A>T	uc002atl.4	-	34	6718	c.6245T>A	c.(6244-6246)cTc>cAc	p.L2082H	MYO9A_uc002atk.3_Missense_Mutation_p.L877H	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2082	Rho-GAP.|Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAGTTTATGAGCTTTTCCAC	0.408000														130			21		0	0	1	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925796	67925796	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67925796C>T	uc001onm.1	-	10	2273	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	SUV420H1_uc009yse.1_Missense_Mutation_p.V259I|SUV420H1_uc001onn.1_Missense_Mutation_p.V501I|SUV420H1_uc009ysf.2_Missense_Mutation_p.V433I	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.P672P(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAACAACCGACGGGTGAAGGA	0.493000														84			20		0	0	1	0	0
WDR24	84219	broad.mit.edu	37	16	739280	739280	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:739280G>A	uc002ciz.1	-	0	1121	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	183										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TTTACCGTGCGCTTGTGTTCT	0.597000														100			26		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113539394	113539394	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113539394T>C	uc003iau.3	-	5	2015	c.1804A>G	c.(1804-1806)Aca>Gca	p.T602A	C4orf21_uc003iaw.3_Missense_Mutation_p.T602A	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	602								p.T602I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ACAGGAAATGTCACTGTAGGT	0.353000														127			20		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44153429	44153429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153429C>T	uc003tkb.3	+	20	3351	c.3046C>T	c.(3046-3048)Cga>Tga	p.R1016*	AEBP1_uc003tkc.4_Nonsense_Mutation_p.R591*|AEBP1_uc003tkd.3_Nonsense_Mutation_p.R266*	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1016	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCCCCAACAGCGACGCCTGCA	0.662000														272			58		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236744595	236744595	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236744595A>C	uc001hyd.2	-	19	2834	c.2682T>G	c.(2680-2682)ctT>ctG	p.L894L	HEATR1_uc009xgh.2_Silent_p.L137L	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	894					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCCCACATAAAGAGCTTGAG	0.393000														160			46		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88380103	88380103	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88380103G>T	uc001tam.1	-	9	1076	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	C12orf50_uc001tan.3_Missense_Mutation_p.S318Y	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	303										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTGCATTCCAGAGTTAGGAAA	0.303000														49			8		0.307466	0.307763	1	1	0
MYOC	4653	broad.mit.edu	37	1	171621507	171621507	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171621507C>T	uc001ghu.3	-	0	267	c.245G>A	c.(244-246)cGc>cAc	p.R82H	MYOC_uc010pmk.2_Intron	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	82			R -> C (in GLC1A).|R -> H.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTCTAAGCGTTGGGTGCT	0.582000														194			15		0	0	1	0	0
SCN4B	6330	broad.mit.edu	37	11	118015933	118015933	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118015933G>A	uc001pse.3	-	1	315	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	25						voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		GTTACGGGGAGCAGGAAGAGG	0.607000											OREG0021380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			33		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6270647	6270647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6270647G>A	uc002mek.3	-	1	300	c.136C>T	c.(136-138)Cac>Tac	p.H46Y		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	46	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TCCACGAAGTGCTGGATGTCA	0.637000			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			14		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152471039	152471039	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152471039C>A	uc021vrb.1	-	71	10652	c.10623G>T	c.(10621-10623)aaG>aaT	p.K3541N	NEB_uc002txu.3_Missense_Mutation_p.K3784N|NEB_uc021vrc.1_Missense_Mutation_p.K3784N|NEB_uc010fnx.3_Missense_Mutation_p.K3529N|NEB_uc021vrd.1_Missense_Mutation_p.K3541N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3541					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCGGGTCATCCTTAATGTTCC	0.458000														275			114		4.16533e-50	5.31627e-50	1	1	0
ARHGAP35	2909	broad.mit.edu	37	19	47424817	47424817	+	Missense_Mutation	SNP	G	A	A	rs140857154	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47424817G>A	uc010ekv.3	+	0	2885	c.2885G>A	c.(2884-2886)aGc>aAc	p.S962N		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	962					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GAGGCCTGTAGCACCACCGAA	0.463000														115			21		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47556926	47556926	+	Silent	SNP	T	A	A	rs144456078		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47556926T>A	uc002zig.3	-	13	1625	c.1581A>T	c.(1579-1581)ggA>ggT	p.G527G	FTCD_uc002zie.3_Non-coding_Transcript|FTCD_uc002zif.3_Missense_Mutation_p.D534V|FTCD_uc002zih.3_Missense_Mutation_p.D534V|FTCD_uc010gqf.3_3'UTR|FTCD_uc010gqg.1_Missense_Mutation_p.D403V			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	34	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CTCCAAGCAGTCCAGCACCAG	0.642000														64			19		0	0	1	0	0
MUS81	80198	broad.mit.edu	37	11	65632028	65632028	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65632028G>A	uc001ofv.4	+	10	1473	c.1120G>A	c.(1120-1122)Gtc>Atc	p.V374I	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	374					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GCATGGTTCCGTCCACAACCT	0.637000								Homologous recombination						116			28		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46995361	46995361	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46995361C>T	uc003gxg.3	-	0	1064	c.81G>A	c.(79-81)gcG>gcA	p.A27A	GABRA4_uc021xnz.1_Intron|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	27					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.L26M(1)|p.A27V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACCAAACCGCCAGGCACA	0.607000														263			45		0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149439327	149439327	+	Missense_Mutation	SNP	C	T	T	rs141866247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149439327C>T	uc003lrl.3	-	13	2263	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	CSF1R_uc011dcd.2_Intron|CSF1R_uc010jhc.3_Intron|CSF1R_uc003lrm.3_Missense_Mutation_p.G690S	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	690	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGTCCTGGCCGGGGCTCAGG	0.582000														162			35		0	0	1	0	0
HMX2	3167	broad.mit.edu	37	10	124909094	124909094	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124909094A>G	uc001lhc.1	+	1	534	c.277A>G	c.(277-279)Aag>Gag	p.K93E		NM_005519	NP_005510	A2RU54	HMX2_HUMAN	Homo sapiens H6 family homeobox 2 (HMX2), mRNA.	93					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P92P(1)		endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		AGGTACCCCCAAGGGCAGCGG	0.642000														171			32		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049058	36049058	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36049058C>T	uc003jjz.2	-	3	908	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	UGT3A2_uc011cos.2_Missense_Mutation_p.R225Q|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	259						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)			AAGCAGAGGTCGAGCAAAATC	0.423000														121			28		0	0	1	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627680	43627680	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:43627680G>A	uc011lrb.2	-	3	1036	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	336						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GTTGACCTTGGCTGTTTCTGT	0.443000														202			19		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55708507	55708507	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708507C>T	uc002qjq.3	-	8	2041	c.1968G>A	c.(1966-1968)acG>acA	p.T656T	PTPRH_uc010esv.3_Silent_p.T478T|PTPRH_uc002qjs.2_Silent_p.T663T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	656	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AGAGGCTCTGCGTGGAACTGG	0.547000														73			11		0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605508	58605508	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58605508T>C	uc010tro.2	-	2	881	c.683A>G	c.(682-684)cAa>cGa	p.Q228R	C14orf37_uc001xdc.3_Missense_Mutation_p.Q190R|C14orf37_uc001xdd.3_Missense_Mutation_p.Q190R|C14orf37_uc001xde.3_Missense_Mutation_p.Q190R	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	190						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TGCAAATGATTGATTATCCAT	0.393000														105			25		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72152161	72152161	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72152161C>T	uc001xms.3	+	9	3548	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SIPA1L1_uc001xmt.3_Nonsense_Mutation_p.R1063*|SIPA1L1_uc001xmu.3_Nonsense_Mutation_p.R1063*|SIPA1L1_uc001xmv.3_Nonsense_Mutation_p.R1063*|SIPA1L1_uc010ttm.2_Nonsense_Mutation_p.R538*	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1063					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	p.R1063Q(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTCCCTTCCGAAATAATAA	0.512000														165			43		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92801960	92801960	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92801960T>G	uc001dot.2	+	9	1704	c.1595T>G	c.(1594-1596)cTt>cGt	p.L532R	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	532						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACACACAACTTAAAAATCTT	0.299000														56			8		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104124866	104124866	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104124866G>T	uc010mtd.3	-	3	1210	c.1101C>A	c.(1099-1101)ccC>ccA	p.P367P	BAAT_uc004bbd.4_Silent_p.P367P	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	367					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity	p.P367S(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GAGGAGAATAGGGAGGTTCTA	0.547000														101			30		1.39806e-14	1.64448e-14	1	1	0
LIG4	3981	broad.mit.edu	37	13	108863228	108863228	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108863228T>C	uc001vqn.3	-	1	662	c.389A>G	c.(388-390)tAt>tGt	p.Y130C	LIG4_uc001vqo.3_Missense_Mutation_p.Y130C|LIG4_uc010agf.3_Missense_Mutation_p.Y130C|LIG4_uc001vqp.3_Missense_Mutation_p.Y130C|LIG4_uc010agg.1_Missense_Mutation_p.Y63C|LIG4_uc021rmk.1_Missense_Mutation_p.Y130C	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	130					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CAACACAAAATATGCAATCAT	0.373000								Non-homologous end-joining						144			40		0	0	1	0	0
DGCR2	9993	broad.mit.edu	37	22	19076975	19076975	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19076975C>T	uc002zoq.1	-	1	356	c.108G>A	c.(106-108)gcG>gcA	p.A36A	DGCR2_uc021wkx.1_Silent_p.A36A|DGCR2_uc021wky.1_Intron|DGCR2_uc021wkz.1_Intron|DGCR2_uc011agr.1_Intron|DGCR2_uc002zor.1_5'UTR	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	36	LDL-receptor class A.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCTGCGACACGCAAACTGCC	0.622000														107			36		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16673839	16673839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16673839G>A	uc003jft.4	-	35	5592	c.5124C>T	c.(5122-5124)ggC>ggT	p.G1708G	MYO10_uc011cnb.2_Silent_p.G337G|MYO10_uc011cnc.2_Silent_p.G587G|MYO10_uc011cnd.2_Silent_p.G1065G|MYO10_uc011cne.2_Silent_p.G1065G|MYO10_uc010itx.3_Silent_p.G1330G	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1708	FERM.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGAGCCGCCGCCATGGCAAT	0.527000														68			14		0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40751121	40751121	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40751121G>A	uc001zlu.2	+	1	529	c.458G>A	c.(457-459)cGc>cAc	p.R153H	BAHD1_uc001zlt.2_Missense_Mutation_p.R153H|BAHD1_uc010bbp.1_Missense_Mutation_p.R153H|BAHD1_uc001zlv.2_Missense_Mutation_p.R153H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	153					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GATCCCCACCGCAGCCGTGAC	0.662000														149			14		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659752	77659752	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659752G>A	uc010xfl.2	+	1	1337	c.1337G>A	c.(1336-1338)gGc>gAc	p.G446D		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	446					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		AGCTCGCAGGGCCCCGACAGC	0.761000														50			19		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105510183	105510183	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105510183G>T	uc003yma.3	-	4	724	c.597C>A	c.(595-597)atC>atA	p.I199I	LRP12_uc003ymb.3_Silent_p.I180I|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	199	LDL-receptor class A 1.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTTGGCACAGATCTCTTCAT	0.428000														147			30		3.90053e-15	4.60698e-15	1	1	0
HEATR5A	25938	broad.mit.edu	37	14	31819115	31819115	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31819115C>T	uc001wrf.4	-	17	2773	c.2588G>A	c.(2587-2589)gGa>gAa	p.G863E	HEATR5A_uc010ami.3_Missense_Mutation_p.G468E|HEATR5A_uc001wrg.1_Missense_Mutation_p.G452E|HEATR5A_uc010tpk.1_Missense_Mutation_p.G863E	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	857							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TTCTAGGGCTCCCATAACTAA	0.448000														18			7		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89348524	89348524	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89348524G>A	uc002fmx.1	-	8	4887	c.4426C>T	c.(4426-4428)Cac>Tac	p.H1476Y	ANKRD11_uc002fmy.1_Missense_Mutation_p.H1476Y|ANKRD11_uc002fnc.1_Missense_Mutation_p.H1476Y|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.H1433Y	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1476	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGTCCCGGTGCctctccttc	0.552000														101			23		0	0	1	0	0
ARRB2	409	broad.mit.edu	37	17	4619793	4619793	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4619793G>A	uc010vsg.2	+	4	475	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	ARRB2_uc002fyj.3_Missense_Mutation_p.A83T|ARRB2_uc002fyk.3_Missense_Mutation_p.A68T|ARRB2_uc002fyl.3_Missense_Mutation_p.A83T|ARRB2_uc002fym.3_Missense_Mutation_p.A68T|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	83					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCTGTTCATCGCCACCTACCA	0.667000														121			34		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9066782	9066782	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9066782C>T	uc002mkp.3	-	2	20868	c.20664G>A	c.(20662-20664)gcG>gcA	p.A6888A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6890	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						CCACATTAGTCGCTGCTGTGC	0.483000														258			56		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	274980	274980	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:274980C>T	uc001qhw.2	+	10	2895	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	IQSEC3_uc001qhu.1_Silent_p.D662D	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	965	PH.				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)		TGGGCTCGGACGAGATGCAGA	0.582000														95			21		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56310933	56310933	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56310933A>C	uc003haz.1	-	19	2485	c.1559T>G	c.(1558-1560)tTa>tGa	p.L520*	CLOCK_uc003hba.1_Nonsense_Mutation_p.L520*|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	520	Implicated in the circadian rhythmicity (By similarity).				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGGCTCCTAATTGAGCTGA	0.343000														61			18		0	0	1	0	0
FANCM	57697	broad.mit.edu	37	14	45645252	45645252	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45645252C>T	uc001wwd.4	+	13	3394	c.3295C>T	c.(3295-3297)Cgt>Tgt	p.R1099C	FANCM_uc010anf.3_Missense_Mutation_p.R1073C|FANCM_uc001wwe.4_Missense_Mutation_p.R635C|FANCM_uc010ang.3_Missense_Mutation_p.R313C	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1099					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ACCTAACAATCGTGTTCAAAT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					77			21		0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455699	5455699	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5455699C>T	uc002mca.4	+	0	274	c.197C>T	c.(196-198)gCg>gTg	p.A66V		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	66						integral to membrane	zinc ion binding	p.A66V(2)		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)		ACACAGACAGCGAAGCGGGTG	0.697000														187			52		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8131620	8131620	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131620G>A	uc002gkq.4	-	22	3591	c.3532C>T	c.(3532-3534)Cga>Tga	p.R1178*	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1178					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CACTGGAATCGCTGTAGCCGA	0.547000														142			32		0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198687417	198687417	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198687417G>A	uc001gur.1	+	13	1819	c.1639G>A	c.(1639-1641)Gac>Aac	p.D547N	PTPRC_uc001gut.1_Missense_Mutation_p.D386N|PTPRC_uc009wzf.1_Missense_Mutation_p.D435N|PTPRC_uc021pgy.1_Missense_Mutation_p.D501N|PTPRC_uc010ppg.1_Missense_Mutation_p.D483N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	547	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.T546T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATATTCAACAGACTACACTTT	0.328000														31			10		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18221838	18221838	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18221838G>A	uc004cyj.4	-	4	844	c.690C>T	c.(688-690)ttC>ttT	p.F230F	BEND2_uc010nfb.2_Silent_p.F230F	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	230								p.F230F(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATGGCATACCGAAACAAGGAA	0.453000														164			51		0	0	1	0	0
TRPV2	51393	broad.mit.edu	37	17	16321163	16321163	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16321163C>T	uc002gpy.3	+	1	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_uc002gpz.3_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597000														61			6		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828724	13828724	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13828724C>T	uc001rbt.2	-	3	1259	c.1080G>A	c.(1078-1080)ccG>ccA	p.P360P		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	360					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCAGTTTCGGGTGCATCT	0.373000														103			21		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283374	5283374	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5283374G>A	uc010zqw.2	-	1	475	c.467C>T	c.(466-468)gCc>gTc	p.A156V	PROKR2_uc010zqx.2_Missense_Mutation_p.A156V|PROKR2_uc010zqy.2_Missense_Mutation_p.A156V	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	156						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GTGAACGATGGCGAGATATCT	0.488000										HNSCC(71;0.22)				120			29		0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78184610	78184610	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78184610A>C	uc002jxz.4	-	7	1237	c.1150T>G	c.(1150-1152)Ttc>Gtc	p.F384V	SGSH_uc002jya.4_Missense_Mutation_p.F181V|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	384					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACGAGGCGGAAGTGCCGGTGC	0.637000														310			69		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72026135	72026135	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72026135C>T	uc001swo.2	-	14	3336	c.2977G>A	c.(2977-2979)Gaa>Aaa	p.E993K		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	993					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTTTGTTGTTCCTTTGCTTTA	0.378000														198			40		0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83885690	83885690	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83885690C>T	uc011dyz.2	-	9	1372	c.1203G>A	c.(1201-1203)ggG>ggA	p.G401G	PGM3_uc003pju.2_Silent_p.G373G|PGM3_uc003pjw.3_Silent_p.G292G|PGM3_uc021zcd.1_Silent_p.G373G	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	373					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		CAGTGCCATGCCCATTTGCTT	0.368000														68			18		0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84363222	84363222	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:84363222T>C	uc004een.3	-	0	753	c.753A>G	c.(751-753)tcA>tcG	p.S251S		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	64	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGATAAACTTGATTGGTTTG	0.463000														195			57		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72416266	72416266	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72416266G>T	uc009zrw.1	+	8	1297	c.1156G>T	c.(1156-1158)Gaa>Taa	p.E386*	TPH2_uc001swy.2_Nonsense_Mutation_p.E296*	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	386					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CTCCATTGGAGAATTAAAGGT	0.428000														90			13		7.93312e-07	8.47869e-07	1	1	0
TRPA1	8989	broad.mit.edu	37	8	72950237	72950237	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72950237G>A	uc003xza.3	-	19	2541	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	789						integral to plasma membrane		p.A789V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTTGCCCCGCTTCTTTGCA	0.274000														32			6		0	0	1	0	0
BTNL2	56244	broad.mit.edu	37	6	32369565	32369565	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32369565G>A	uc003obg.1	-	3	727	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	BTNL2_uc010jty.1_5'UTR|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Silent_p.L33L	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	243	Ig-like V-type 3.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TACTTACCCAGCTCAGTCTGG	0.468000														54			10		0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35093540	35093540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35093540C>T	uc003zwd.3	-	4	1213	c.817G>A	c.(817-819)Gta>Ata	p.V273I	PIGO_uc003zwe.3_Missense_Mutation_p.V273I|PIGO_uc003zwf.3_Missense_Mutation_p.V273I|PIGO_uc003zwc.1_Missense_Mutation_p.V273I|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	273					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCAGCCACTACCAGCAGTGTG	0.498000														46			7		0	0	1	0	0
AAGAB	79719	broad.mit.edu	37	15	67524224	67524224	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67524224C>T	uc002aqk.4	-	4	568	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	AAGAB_uc010uju.2_Missense_Mutation_p.E46K	NM_024666	NP_078942	Q6PD74	AAGAB_HUMAN	Homo sapiens alpha- and gamma-adaptin binding protein (AAGAB), mRNA.	155					protein transport	cytoplasm		p.E155*(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCTGTAGATTCTGGGAAGTCA	0.403000														263			53		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847667	22847667	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22847667G>A	uc002nqw.3	+	3	1440	c.1196G>A	c.(1195-1197)gGc>gAc	p.G399D		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GAAGAATGTGGCAAAGCTTTT	0.383000														70			9		0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	88123711	88123711	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88123711C>A	uc001kdl.1	-	1	323	c.222G>T	c.(220-222)caG>caT	p.Q74H	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	74						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)	CCTGCACAGCCTGGAATGGGT	0.627000										Multiple Myeloma(13;0.14)				130			20		2.4624e-09	2.73094e-09	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163124694	163124694	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163124694T>C	uc002uce.3	-	13	2932	c.2710A>G	c.(2710-2712)Act>Gct	p.T904A		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	904					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CAAAGGAAAGTTATTAGTGAT	0.363000														56			13		0	0	1	0	0
RNF148	378925	broad.mit.edu	37	7	122342708	122342708	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122342708T>G	uc003vkk.1	-	0	314	c.97A>C	c.(97-99)Aac>Cac	p.N33H	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.	33						integral to membrane	zinc ion binding	p.N33N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						GCTTTTCCGTTTGAGTCAGGA	0.423000														48			9		0	0	1	0	0
CDC42	998	broad.mit.edu	37	1	22417980	22417980	+	Silent	SNP	G	A	A	rs16826564		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22417980G>A	uc001bfq.3	+	6	838	c.546G>A	c.(544-546)ccG>ccA	p.P182P	CDC42_uc009vqh.3_Silent_p.P141P|CDC42_uc001bfr.3_Silent_p.P182P|CDC42_uc010odr.2_Silent_p.P227P|CDC42_uc010ods.2_Silent_p.P224P	NM_001039802	NP_001782	P60953	CDC42_HUMAN	Homo sapiens cell division cycle 42 (GTP binding protein, 25kDa) (CDC42), transcript variant 3, mRNA.	182					T cell costimulation|actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|plasma membrane	GTP binding|GTPase activity|protein binding|thioesterase binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)	12		Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207)		CTCCAGAACCGAAGAAGAGCC	0.458000														104			12		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313152	155313152	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155313152G>T	uc009wqq.3	-	23	8741	c.8261C>A	c.(8260-8262)gCt>gAt	p.A2754D	ASH1L_uc001fkt.3_Missense_Mutation_p.A2749D	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2754	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.T2753I(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CCCCACTACAGCCTCCAAGGG	0.478000														140			26		7.01153e-11	7.92827e-11	1	1	0
MAP1A	4130	broad.mit.edu	37	15	43816613	43816613	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816613A>G	uc001zrt.3	+	3	3409	c.2942A>G	c.(2941-2943)gAg>gGg	p.E981G		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	981						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGAGAAGCAGAGGAGCGGTGC	0.552000														208			41		0	0	1	0	0
NAA60	79903	broad.mit.edu	37	16	3533542	3533542	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3533542G>T	uc002cvh.4	+	5	763	c.517G>T	c.(517-519)Gat>Tat	p.D173Y	NAA60_uc010uxb.1_Missense_Mutation_p.D180Y|NAA60_uc010btk.1_Missense_Mutation_p.D108Y|NAA60_uc010btl.3_Intron|NAA60_uc021tcf.1_Missense_Mutation_p.D173Y|NAA60_uc010btm.3_Missense_Mutation_p.D173Y|NAA60_uc010uxd.2_Intron|NAA60_uc010uxe.2_Intron|NAA60_uc002cvg.2_Missense_Mutation_p.D173Y	NM_001083601	NP_079121	Q9H7X0	NAT15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 60, NatF catalytic subunit (NAA60), transcript variant 1, mRNA.	173	N-acetyltransferase.						N-acetyltransferase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)	7						GGTCCTCAAAGATGGCTTCAC	0.493000														113			27		1.77063e-15	2.09702e-15	1	1	0
SYT7	9066	broad.mit.edu	37	11	61323619	61323619	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61323619G>T	uc001nrv.3	-	1	144	c.92C>A	c.(91-93)aCt>aAt	p.T31N	SYT7_uc009ynr.3_Missense_Mutation_p.T31N|SYT7_uc001nrx.1_Non-coding_Transcript	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	31						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGACGACAGTGACGCTAAG	0.667000														68			11		6.40141e-05	6.6609e-05	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30349761	30349761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30349761C>T	uc002kxm.1	-	1	1182	c.794G>A	c.(793-795)cGc>cAc	p.R265H		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	265	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAGGGCGAAGCGGAGGCGCTT	0.657000														165			41		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144662323	144662323	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144662323C>A	uc003yyq.2	-	6	2143	c.1914G>T	c.(1912-1914)caG>caT	p.Q638H	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Missense_Mutation_p.Q564H|EEF1D_uc011lki.2_Missense_Mutation_p.Q222H|EEF1D_uc003yyv.3_Missense_Mutation_p.Q198H|EEF1D_uc003yyu.3_Missense_Mutation_p.Q222H|EEF1D_uc011lkk.2_Missense_Mutation_p.Q222H|EEF1D_uc003yyt.3_Missense_Mutation_p.Q588H|EEF1D_uc003yyr.3_Missense_Mutation_p.Q588H|EEF1D_uc003yys.3_Missense_Mutation_p.Q222H|EEF1D_uc011lkl.2_Missense_Mutation_p.Q203H	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	222					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCCGTCCAGCTGGATAGAGC	0.617000														115			8		0.000274275	0.000282808	1	1	0
F2RL2	2151	broad.mit.edu	37	5	75914417	75914417	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75914417T>A	uc003kem.3	-	1	300	c.115A>T	c.(115-117)Acc>Tcc	p.T39S	IQGAP2_uc003kek.3_Intron|IQGAP2_uc010izv.2_Intron|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron|F2RL2_uc011csw.2_Missense_Mutation_p.T17S	NM_004101	NP_004092	O00254	PAR3_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 2 (F2RL2), mRNA.	39		Cleavage; by thrombin (By similarity).			platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		CCACGAAAGGTCTTAATGGGT	0.398000														155			38		0	0	1	0	0
EPB41L1	2036	broad.mit.edu	37	20	34782221	34782221	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34782221G>A	uc002xfb.3	+	11	1559	c.1388G>A	c.(1387-1389)gGg>gAg	p.G463E	EPB41L1_uc002xeu.3_Missense_Mutation_p.G401E|EPB41L1_uc010zvo.1_Missense_Mutation_p.G463E|EPB41L1_uc002xev.3_Missense_Mutation_p.G463E|EPB41L1_uc002xew.3_Missense_Mutation_p.G366E|EPB41L1_uc002xex.3_Missense_Mutation_p.G432E|EPB41L1_uc002xey.3_Missense_Mutation_p.G390E|EPB41L1_uc002xez.3_Missense_Mutation_p.G401E	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	463					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					GAGTCTGGGGGGCAACGGTCA	0.602000														55			17		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710328	34710328	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710328C>T	uc002nvb.4	+	6	1010	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C	LSM14A_uc002nva.4_Missense_Mutation_p.R272C|LSM14A_uc010xru.2_Missense_Mutation_p.R231C|LSM14A_uc002nvc.4_Missense_Mutation_p.R78C	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAGAGGGCGTGGGGGTCA	0.438000														186			28		0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108128027	108128027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108128027G>A	uc001tmp.3	-	11	2803	c.2366C>T	c.(2365-2367)gCt>gTt	p.A789V	PRDM4_uc001tmq.3_Non-coding_Transcript	NM_012406	NP_036538	Q9UKN5	PRDM4_HUMAN	Homo sapiens PR domain containing 4 (PRDM4), mRNA.	789					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGAATACACAGCACTGTTAAT	0.418000														185			52		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91347577	91347577	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91347577C>T	uc001tbj.3	-	0	1377	c.943G>A	c.(943-945)Gaa>Aaa	p.E315K		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	315	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						tcctcatcttcgacctcttcc	0.532000														141			19		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547872	113547872	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113547872A>G	uc022blv.1	+	12	1786	c.1652A>G	c.(1651-1653)aAc>aGc	p.N551S	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.N462S|MUSK_uc022blu.1_Missense_Mutation_p.N452S	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	551					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P550P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTTCATCCCAACCCCATGTAC	0.498000														323			37		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88472622	88472622	+	Missense_Mutation	SNP	G	A	A	rs139392904	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88472622G>A	uc002bme.2	-	16	2239	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	NTRK3_uc002bmh.2_Missense_Mutation_p.R637C|NTRK3_uc002bmf.2_Missense_Mutation_p.R645C|NTRK3_uc021sua.1_Missense_Mutation_p.R637C|NTRK3_uc010upl.1_Missense_Mutation_p.R547C|NTRK3_uc010bnh.1_Missense_Mutation_p.R637C	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	645	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGGCCTGGCGTGGCTGTCCA	0.587000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				64			15		0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139944442	139944442	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139944442C>A	uc004ckw.2	-	7	1084	c.1030_splice	c.e7-1	p.A344_splice	ENTPD2_uc004ckv.2_5'Flank|ENTPD2_uc022bqb.1_Splice_Site|ENTPD2_uc004ckx.2_Splice_Site_p.A344_splice	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 2 (ENTPD2), transcript variant 1, mRNA.	344						integral to membrane	ATP binding			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CAGAGAAGGCCTGTAGGGGGC	0.632000											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			25		3.73808e-20	4.55875e-20	1	1	0
ZNF606	80095	broad.mit.edu	37	19	58490962	58490962	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490962A>G	uc002qqw.3	-	6	1704	c.1086T>C	c.(1084-1086)caT>caC	p.H362H	ZNF606_uc010yhp.2_Silent_p.H272H	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CAATTTTTTGATGTTCCATAA	0.343000														96			29		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22163834	22163834	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22163834C>T	uc010vbq.2	+	30	3380	c.3284C>T	c.(3283-3285)gCg>gTg	p.A1095V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc002dkg.4_Missense_Mutation_p.A173V|VWA3A_uc010bxe.1_Missense_Mutation_p.A197V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	1095	VWFA 2.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTTCCAGAGCGGCGGTTGAG	0.587000														45			11		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125833403	125833403	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125833403C>A	uc003eim.1	-	17	2269	c.2079G>T	c.(2077-2079)caG>caT	p.Q693H	ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.Q592H|ALDH1L1_uc003ein.1_Missense_Mutation_p.Q228H	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	693	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCACCATCTGCACAGCCT	0.597000														141			34		2.85442e-18	3.44571e-18	1	1	0
POLN	353497	broad.mit.edu	37	4	2130966	2130966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2130966G>A	uc003ger.2	-	15	1819	c.1807C>T	c.(1807-1809)Ctc>Ttc	p.L603F	POLN_uc010icg.1_Missense_Mutation_p.L51F|POLN_uc010ich.1_Missense_Mutation_p.L135F	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	603					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			GAGATCGTGAGAATCTTGTCT	0.388000								DNA polymerases (catalytic subunits)						75			10		0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499330	52499330	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52499330A>G	uc001ctj.1	-	0	143	c.104T>C	c.(103-105)gTg>gCg	p.V35A	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	35							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						TGCGTCGTCCACCACGTACAC	0.687000														93			7		0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67292264	67292264	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67292264C>T	uc002esm.3	+	9	1603	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	SLC9A5_uc010cee.3_Nonsense_Mutation_p.R219*|SLC9A5_uc010vji.2_Nonsense_Mutation_p.R18*	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	514					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GCTGCTGATGCGACGATCAGC	0.592000														105			25		0	0	1	0	0
ZNF24	7572	broad.mit.edu	37	18	32920370	32920370	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:32920370C>A	uc002kyt.2	-	1	402	c.245G>T	c.(244-246)aGg>aTg	p.R82M	ZNF24_uc002kys.2_Missense_Mutation_p.R82M|ZNF24_uc002kyu.1_Missense_Mutation_p.R82M	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	82	SCAN box.				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						CGTCTCTGGCCTGAGCCACAG	0.532000														337			27		1.66031e-10	1.87009e-10	1	1	0
PDE1B	5153	broad.mit.edu	37	12	54969384	54969384	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54969384G>A	uc001sgd.2	+	11	1628	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PDE1B_uc010soz.2_Missense_Mutation_p.R275H|PDE1B_uc010spa.1_Missense_Mutation_p.R371H|PDE1B_uc001sge.3_Missense_Mutation_p.R392H|PDE1B_uc001sgf.3_Missense_Mutation_p.R275H|PDE1B_uc009znq.3_Missense_Mutation_p.R208H	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	412	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CTCTGTGACCGCACTTCCACT	0.572000														156			38		0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329904	125329904	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125329904G>T	uc004bmp.1	-	0	853	c.853C>A	c.(853-855)Ctc>Atc	p.L285I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AAAGGATTGAGCATGGATGAC	0.453000														131			29		2.4375e-19	2.95902e-19	1	1	0
MUC4	4585	broad.mit.edu	37	3	195517585	195517585	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195517585A>G	uc021xjp.1	-	1	1022	c.866T>C	c.(865-867)cTt>cCt	p.L289P	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.L171P	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	294					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACTGGCATAAGACTTCCAGT	0.458000														114			30		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46979547	46979547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46979547G>A	uc003gxg.3	-	3	1357	c.374C>T	c.(373-375)aCg>aTg	p.T125M	GABRA4_uc021xnz.1_Missense_Mutation_p.T106M|GABRA4_uc021xoa.1_Missense_Mutation_p.T106M	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCACACTTTCGTTACCATCAT	0.358000														63			20		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184084	72184084	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184084G>T	uc003xyu.3	-	9	1515	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	EYA1_uc003xyt.4_Missense_Mutation_p.S259Y|EYA1_uc003xyr.4_Missense_Mutation_p.S287Y|EYA1_uc010lzf.3_Missense_Mutation_p.S219Y|EYA1_uc003xys.4_Missense_Mutation_p.S292Y|EYA1_uc011lfe.2_Missense_Mutation_p.S286Y|EYA1_uc003xyv.3_Missense_Mutation_p.S170Y	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	292					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CAATCGATCAGAATCTGAATC	0.463000														325			52		1.63038e-21	2.00258e-21	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32492816	32492816	+	Missense_Mutation	SNP	C	T	T	rs143032407	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32492816C>T	uc002yow.1	-	28	5118	c.4646G>A	c.(4645-4647)cGc>cAc	p.R1549H	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1489H	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1549					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTGTGCCATGCGGGACGCGTG	0.597000														138			37		0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109769940	109769940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:109769940C>A	uc021xqo.1	-	25	1465	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	COL25A1_uc003hze.1_Missense_Mutation_p.G470V|COL25A1_uc021xqp.1_Missense_Mutation_p.G470V|COL25A1_uc003hzg.3_Missense_Mutation_p.G470V|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G228V	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	470	Collagen-like 6.					collagen|extracellular space	beta-amyloid binding|heparin binding	p.P469P(1)		NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		TCCTGGGATTCCTGGAGATCC	0.353000														103			25		3.57733e-08	3.90296e-08	1	1	0
WEE2	494551	broad.mit.edu	37	7	141430103	141430103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141430103C>T	uc003vwn.2	+	11	2093	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	563					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.R563C(2)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AGCAGGAGAGCGTGAGCCTCT	0.418000														52			17		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163596	141163596	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163596C>T	uc010hup.3	+	1	2416	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ZBTB38_uc003etw.3_Missense_Mutation_p.P789L|ZBTB38_uc010hun.3_Missense_Mutation_p.P786L|ZBTB38_uc010huo.3_Missense_Mutation_p.P789L|ZBTB38_uc003ety.3_Missense_Mutation_p.P789L|ZBTB38_uc021xes.1_Missense_Mutation_p.P789L	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	789					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGAGAAATACCGGAGGAGTCA	0.428000														54			10		0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135114495	135114495	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135114495C>T	uc004cbh.2	+	5	1835	c.1059C>T	c.(1057-1059)tgC>tgT	p.C353C		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	353	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCCCAGACTGCGAATGCTACG	0.587000														139			22		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801881	27801881	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801881G>T	uc002rkz.4	+	0	2493	c.2442G>T	c.(2440-2442)gaG>gaT	p.E814D		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	814										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CATGTCCTGAGATTCTAGGAG	0.398000														276			14		1.99824e-07	2.15697e-07	1	1	0
DDX3X	1654	broad.mit.edu	37	X	41204512	41204512	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41204512A>G	uc004dfe.3	+	10	1960	c.1105A>G	c.(1105-1107)Act>Gct	p.T369A	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.T369A|DDX3X_uc011mkq.2_Missense_Mutation_p.T353A|DDX3X_uc011mkr.2_Missense_Mutation_p.T369A|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	369	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CGAACAAGATACTATGCCTCC	0.378000										HNSCC(61;0.18)				104			37		0	0	1	0	0
RBCK1	10616	broad.mit.edu	37	20	409726	409726	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:409726C>T	uc002wdp.4	+	10	2133	c.1440C>T	c.(1438-1440)cgC>cgT	p.R480R	RBCK1_uc002wdq.4_Silent_p.R438R|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Silent_p.R310R	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	480					T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGGGCCCACGCTGGGGCCCTG	0.637000														69			18		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9463281	9463281	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9463281G>A	uc002qzh.2	+	5	842	c.502G>A	c.(502-504)Gcc>Acc	p.A168T	ASAP2_uc002qzi.2_Missense_Mutation_p.A168T	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	168					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						AAAGGAACACGCCAAGCTCCA	0.493000														268			22		0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333276	27333276	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27333276A>G	uc010ofj.2	-	1	609	c.437T>C	c.(436-438)gTg>gCg	p.V146A	BC016143_uc021ojq.1_Intron	NM_052943	NP_443175	Q96A09	FA46B_HUMAN	Homo sapiens family with sequence similarity 46, member B (FAM46B), mRNA.	146										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		GGCCAGCACCACTGCCTTGGT	0.617000														186			56		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5620298	5620298	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5620298G>A	uc003gij.3	-	14	2667	c.2613C>T	c.(2611-2613)atC>atT	p.I871I	EVC2_uc003gik.3_Silent_p.I791I|EVC2_uc011bwb.2_Silent_p.I311I	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	871						integral to membrane		p.K870fs*31(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CTCGGGCCCGGATCTTGGGGA	0.602000														75			19		0	0	1	0	0
OR10G9	219870	broad.mit.edu	37	11	123894465	123894465	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123894465G>A	uc010sad.2	+	0	746	c.746G>A	c.(745-747)tGc>tAc	p.C249Y		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGGTCCTTTGCTTTTTTGTT	0.532000														197			46		0	0	1	0	0
ITGA3	3675	broad.mit.edu	37	17	48156190	48156190	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48156190T>C	uc010dbm.3	+	18	2764	c.2300T>C	c.(2299-2301)gTa>gCa	p.V767A	ITGA3_uc010dbl.3_Missense_Mutation_p.V767A	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	767					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						ACCCCTAGGGTAAATCACCGG	0.557000														210			8		0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198762	155198762	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155198762G>A	uc021xge.1	-	22	5354	c.5077C>T	c.(5077-5079)Ctg>Ttg	p.L1693L	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.L1655L	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1693					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATAATTCACAGTCTCAAAAGA	0.338000														79			16		0	0	1	0	0
SRR	63826	broad.mit.edu	37	17	2227000	2227000	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2227000G>A	uc002fue.1	+	7	924	c.856G>A	c.(856-858)Gct>Act	p.A286T	SRR_uc002fui.1_Missense_Mutation_p.A137T|TSR1_uc002fuj.3_3'UTR	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	Homo sapiens serine racemase (SRR), mRNA.	286					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|D-serine ammonia-lyase activity|L-serine ammonia-lyase activity|PDZ domain binding|calcium ion binding|glycine binding|magnesium ion binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGAACCTACAGCTGGTGTTGG	0.453000														62			6		0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57016098	57016098	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57016098G>A	uc002xza.3	+	4	873	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	VAPB_uc010zzo.2_Missense_Mutation_p.G55S|VAPB_uc002xzd.2_Intron|VAPB_uc002xzb.3_Non-coding_Transcript	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	178					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GAGGCTGCAAGGTGAAGTTCA	0.413000														64			9		0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9644530	9644530	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9644530T>C	uc002mlq.3	-	4	494	c.230A>G	c.(229-231)aAc>aGc	p.N77S	ZNF426_uc010dws.3_Missense_Mutation_p.N39S	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	77	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TGTGGCCAGGTTCTTGTAGTT	0.478000														179			20		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31925867	31925867	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31925867A>G	uc002ecs.4	+	3	506	c.297A>G	c.(295-297)atA>atG	p.I99M		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	99					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAAAGTGATATCGAGGAGAC	0.373000														99			20		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38531004	38531004	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38531004C>A	uc003auy.1	-	5	1021	c.885G>T	c.(883-885)aaG>aaT	p.K295N	PLA2G6_uc003auz.1_Missense_Mutation_p.K295N|PLA2G6_uc003ava.1_Missense_Mutation_p.K295N|PLA2G6_uc003avb.2_Missense_Mutation_p.K295N|PLA2G6_uc010gxk.1_Non-coding_Transcript|PLA2G6_uc011ano.1_Missense_Mutation_p.K260N	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	295					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCTCTGCGTTCTTGGCCCAGT	0.657000														63			13		4.36969e-10	4.89342e-10	1	1	0
ZNF345	25850	broad.mit.edu	37	19	37368427	37368427	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368427G>A	uc002oex.3	+	2	1076	c.695G>A	c.(694-696)tGc>tAc	p.C232Y	ZNF345_uc021utn.1_Missense_Mutation_p.C232Y|ZNF345_uc002oey.4_Missense_Mutation_p.C232Y|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C232Y|ZNF345_uc021utp.1_Missense_Mutation_p.C232Y|ZNF345_uc021utq.1_Missense_Mutation_p.C232Y	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	232					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTTATGAATGCAAAGCATGT	0.418000														95			19		0	0	1	0	0
SPINK5	11005	broad.mit.edu	37	5	147493998	147493998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147493998G>A	uc003lox.2	+	20	2034	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	SPINK5_uc010jgs.1_Missense_Mutation_p.R626H|SPINK5_uc010jgr.2_Missense_Mutation_p.R635H|SPINK5_uc003low.2_Missense_Mutation_p.R654H|SPINK5_uc003loy.2_Missense_Mutation_p.R654H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	654	Kazal-like 10.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCCTGTGCGTGGCCCAGAT	0.453000														81			18		0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57567047	57567047	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57567047G>T	uc002yag.3	+	9	1255	c.1228G>T	c.(1228-1230)Gaa>Taa	p.E410*	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	410					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding	p.A409A(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTAGTGGCAGAATTGAGCAC	0.413000														113			23		2.32416e-17	2.78873e-17	1	1	0
CASR	846	broad.mit.edu	37	3	122002644	122002644	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002644G>A	uc003eew.4	+	6	2311	c.1873G>A	c.(1873-1875)Gca>Aca	p.A625T	CASR_uc003eev.4_Missense_Mutation_p.A615T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	615					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTTGGGATCGCACTCACCCT	0.537000														137			17		0	0	1	0	0
DLGAP5	9787	broad.mit.edu	37	14	55636179	55636179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55636179G>A	uc001xbs.3	-	11	1703	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	DLGAP5_uc001xbt.3_Nonsense_Mutation_p.R496*	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	496					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						TTTATACCTCGTTTATATTCA	0.363000														67			15		0	0	1	0	0
ZNF329	79673	broad.mit.edu	37	19	58640736	58640736	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58640736T>C	uc002qrn.3	-	3	372	c.135A>G	c.(133-135)ggA>ggG	p.G45G	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.G45G	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCCTCAAGTGTCCCTCCTGGT	0.473000														162			27		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88691101	88691101	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88691101G>T	uc010voz.2	+	12	2262	c.2062G>T	c.(2062-2064)Gac>Tac	p.D688Y	ZC3H18_uc002fky.3_Missense_Mutation_p.D664Y|ZC3H18_uc010chw.3_Non-coding_Transcript|ZC3H18_uc002fkz.3_5'Flank	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	664	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CAAGCCAGGAGACCCTCGGGA	0.672000														89			36		8.73648e-17	1.04385e-16	1	1	0
CT47B1	643311	broad.mit.edu	37	X	120009228	120009228	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120009228C>A	uc011muc.2	-	0	552	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	99	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						cctcgttcccctcttcctcct	0.692000														78			16		4.7546e-09	5.25358e-09	1	1	0
JAG2	3714	broad.mit.edu	37	14	105614748	105614748	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105614748G>A	uc001yqg.3	-	15	2453	c.2049C>T	c.(2047-2049)tgC>tgT	p.C683C	JAG2_uc001yqf.3_Silent_p.C87C|JAG2_uc001yqh.3_Silent_p.C645C	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	683	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		CGCGGCTGTGGCAGGGATCGG	0.692000														85			14		0	0	1	0	0
ZNF668	79759	broad.mit.edu	37	16	31072558	31072558	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31072558C>T	uc021tgt.1	-	3	2116	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	ZNF668_uc010cag.2_Missense_Mutation_p.R564H|ZNF668_uc010caf.3_Missense_Mutation_p.R564H|ZNF668_uc002eao.3_Missense_Mutation_p.R564H	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCTGTGAGTGCGGCTGTGTTT	0.667000														282			16		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22678185	22678185	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22678185C>A	uc001iri.3	+	6	1116	c.949C>A	c.(949-951)Ctt>Att	p.L317I	SPAG6_uc010qct.2_Missense_Mutation_p.L292I|SPAG6_uc009xkh.3_Missense_Mutation_p.L295I|SPAG6_uc001irj.3_Missense_Mutation_p.L317I|SPAG6_uc021poe.1_Missense_Mutation_p.L43I	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	317					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CATCATGATGCTTGGTTATGT	0.468000														87			8		0.00448238	0.00455828	1	1	0
ITIH1	3697	broad.mit.edu	37	3	52814339	52814339	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52814339T>G	uc003dfs.3	+	5	658	c.628T>G	c.(628-630)Tct>Gct	p.S210A	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.S68A|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	210					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGCCCAGGCCTCTTTCCTGCC	0.483000														69			15		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93808358	93808358	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93808358C>T	uc001pep.2	+	8	1680	c.1523C>T	c.(1522-1524)gCg>gTg	p.A508V	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	508	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AAACCAGGGGCGCATGTTAAA	0.463000														41			6		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64599088	64599088	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64599088G>A	uc001obs.4	-	27	3193	c.3193C>T	c.(3193-3195)Cag>Tag	p.Q1065*		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	1065	PH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCAGCCGCTGCAGCTCACCC	0.692000											OREG0004016	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		77			20		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965575	35965575	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965575A>C	uc003jjv.2	-	3	949	c.756T>G	c.(754-756)gaT>gaG	p.D252E	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.D252E|UGT3A1_uc011cor.2_Missense_Mutation_p.D218E|UGT3A1_uc003jjy.2_Missense_Mutation_p.D198E	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	252						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGGCAAAATCAGAGTTAA	0.433000														121			26		0	0	1	0	0
MC4R	4160	broad.mit.edu	37	18	58038647	58038647	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:58038647G>A	uc002lie.1	-	0	1355	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	312					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	p.K311Q(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TCTCTTTGAAGGTTTTCCTCA	0.418000														120			33		0	0	1	0	0
MERTK	10461	broad.mit.edu	37	2	112766019	112766019	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112766019G>T	uc002thk.1	+	13	2049	c.1927G>T	c.(1927-1929)Gac>Tac	p.D643Y	MERTK_uc002thl.1_Missense_Mutation_p.D467Y	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	643	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGCATGAAAGACTTCAGCCA	0.478000														96			26		6.32553e-13	7.33687e-13	1	1	0
SSTR5	6755	broad.mit.edu	37	16	1129709	1129709	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129709G>A	uc021taf.1	+	1	912	c.841G>A	c.(841-843)Gcc>Acc	p.A281T	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.A281T	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	281					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAGGAGCCCGCCTCCGCCGG	0.627000														155			31		0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	89999002	89999002	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89999002G>A	uc002fpf.2	+	2	1530	c.1122G>A	c.(1120-1122)gaG>gaA	p.E374E	TUBB3_uc010ciz.1_5'UTR|TUBB3_uc010cja.2_Non-coding_Transcript|TUBB3_uc002fph.2_Silent_p.E27E|TUBB3_uc002fpj.1_5'UTR|TUBB3_uc002fpk.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	27					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TCAGTGATGAGCATGGCATCG	0.607000														101			26		0	0	1	0	0
TMEM45A	55076	broad.mit.edu	37	3	100287799	100287799	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100287799C>A	uc003dua.1	+	5	969	c.770C>A	c.(769-771)gCt>gAt	p.A257D	TMEM45A_uc003dtz.1_Missense_Mutation_p.A241D|TMEM45A_uc003dub.1_Non-coding_Transcript	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN	Homo sapiens transmembrane protein 45A (TMEM45A), mRNA.	241						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						ATGAATTATGCTTTCATTACC	0.353000														147			41		1.32136e-16	1.5779e-16	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7811265	7811265	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7811265C>T	uc001aoi.3	+	19	4903	c.4696C>T	c.(4696-4698)Ctt>Ttt	p.L1566F	CAMTA1_uc001aok.4_Missense_Mutation_p.L609F|CAMTA1_uc001aoj.3_Missense_Mutation_p.L529F|CAMTA1_uc009vmf.3_Missense_Mutation_p.L156F	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1566	IQ 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.L1566L(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCAGTACGCACTTTATAAAAA	0.488000			T	WWTR1	epitheliod hemangioendothelioma									369			81		0	0	1	0	0
ABCB6	10058	broad.mit.edu	37	2	220077786	220077786	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220077786G>A	uc002vkc.2	-	13	3585	c.1806_splice	c.e13-1	p.G602_splice	ABCB6_uc010fwe.2_Splice_Site_p.G556_splice	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	602	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTCTCCCGCCTGCAAGGA	0.602000														59			7		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985426	140985426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140985426G>A	uc011mwp.2	+	7	1740	c.1740G>A	c.(1738-1740)agG>agA	p.R580R	MAGEC3_uc004fbs.3_Missense_Mutation_p.A330T|MAGEC3_uc010nsj.3_Missense_Mutation_p.A330T|MAGEC3_uc022cfh.1_Missense_Mutation_p.A330T	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	580	MAGE 2.							p.Q579K(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCATTCAGAGGCCAGCAAGAG	0.468000														135			38		0	0	1	0	0
HIST1H1A	3024	broad.mit.edu	37	6	26017371	26017371	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26017371G>T	uc003nfo.3	-	0	670	c.590C>A	c.(589-591)gCt>gAt	p.A197D		NM_005325	NP_005316	Q02539	H11_HUMAN	Homo sapiens histone cluster 1, H1a (HIST1H1A), mRNA.	197					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CGTCACCCTAGCCTTGGCCGC	0.438000														306			49		2.81731e-22	3.47067e-22	1	1	0
HPD	3242	broad.mit.edu	37	12	122295256	122295256	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122295256C>T	uc001ubj.3	-	3	216	c.176G>A	c.(175-177)aGc>aAc	p.S59N	HPD_uc001ubk.3_Missense_Mutation_p.S20N	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	59					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	GATTACATGGCTGACCACCTC	0.547000														179			32		0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789302	92789302	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92789302C>T	uc001dot.2	+	7	934	c.825C>T	c.(823-825)ggC>ggT	p.G275G	RPAP2_uc009wdh.2_Non-coding_Transcript	NM_024813	NP_079089	Q8IXW5	RPAP2_HUMAN	Homo sapiens RNA polymerase II associated protein 2 (RPAP2), mRNA.	275						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCAGTTAGGCGATTGCAAAT	0.373000														108			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25886972	25886972	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25886972C>T	uc001isj.3	+	10	2477	c.2417C>T	c.(2416-2418)aCc>aTc	p.T806I	GPR158_uc001isk.3_Missense_Mutation_p.T181I	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	806						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGGAGGAGACCCTGAAAAAC	0.542000														185			38		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145536894	145536894	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145536894C>T	uc001eoa.3	+	17	2350	c.2274C>T	c.(2272-2274)acC>acT	p.T758T	ITGA10_uc010oyv.2_Silent_p.T627T|ITGA10_uc009wiw.3_Silent_p.T615T|ITGA10_uc010oyw.2_Silent_p.T703T	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	758					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGACTGTGACCTTTGCCTTGG	0.507000														214			70		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	599006	599006	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599006T>G	uc002chi.3	+	4	1826	c.1463T>G	c.(1462-1464)tTc>tGc	p.F488C		NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	488	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				AATGTGAGCTTCGTGGATGAC	0.672000														265			50		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13869125	13869125	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13869125T>C	uc010gcf.3	-	5	665	c.583A>G	c.(583-585)Atg>Gtg	p.M195V	SEL1L2_uc002woq.4_Missense_Mutation_p.M56V|SEL1L2_uc010zrl.2_Missense_Mutation_p.M195V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	195						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCATATTCCATTCCTATTCCA	0.264000														16			9		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520443	131520443	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131520443C>T	uc021voy.1	+	0	798	c.798C>T	c.(796-798)aaC>aaT	p.N266N	FAM123C_uc002trw.2_Silent_p.N266N|FAM123C_uc010fmv.2_Silent_p.N266N|FAM123C_uc010fms.1_Silent_p.N266N|FAM123C_uc010fmt.1_Silent_p.N266N|FAM123C_uc010fmu.1_Silent_p.N266N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	266										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGGAGCTGAACGAGGGCCCGG	0.672000														130			61		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26943464	26943464	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26943464C>T	uc002hbu.3	-	35	6324	c.6221G>A	c.(6220-6222)gGg>gAg	p.G2074E	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Non-coding_Transcript|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2074						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACACCCTTCCCAGGGCCCAG	0.512000														181			46		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29999166	29999166	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29999166C>T	uc010bzm.2	+	14	3629	c.3594C>T	c.(3592-3594)ccC>ccT	p.P1198P	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Silent_p.P1078P|TAOK2_uc002dva.2_Silent_p.P1191P|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Silent_p.P1018P	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	1191					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGAACGGCCCACCCGAATCC	0.706000														81			17		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25572675G>A	uc002kwg.2	-	8	1747	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_uc010xbn.1_Missense_Mutation_p.R399W	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527000														123			25		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284597	18284597	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18284597G>A	uc001ipo.2	+	9	1819	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	SLC39A12_uc001ipn.2_Missense_Mutation_p.D479N|SLC39A12_uc001ipp.2_Missense_Mutation_p.D515N|SLC39A12_uc010qck.1_Missense_Mutation_p.D382N	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	516					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAGCCCAGAAGATTCACAGGC	0.353000														81			18		0	0	1	0	0
KIAA0240	23506	broad.mit.edu	37	6	42796339	42796339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42796339G>A	uc003osn.1	+	5	419	c.268G>A	c.(268-270)Gag>Aag	p.E90K	KIAA0240_uc003osm.1_Missense_Mutation_p.E90K|KIAA0240_uc011duw.1_Missense_Mutation_p.E90K|KIAA0240_uc003oso.1_Missense_Mutation_p.E90K|KIAA0240_uc003osp.1_Missense_Mutation_p.E90K	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Homo sapiens KIAA0240 (KIAA0240), mRNA.	90										NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(3)|skin(3)	44	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)			AGATGAACTCGAGTCTTCTCC	0.473000														110			36		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120072119	120072119	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120072119C>T	uc003icp.4	+	2	382	c.169C>T	c.(169-171)Cta>Tta	p.L57L		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	57							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TGGTGCCAGGCTATTTAAGAT	0.398000														98			28		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856659	12856659	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12856659C>T	uc003bxk.2	+	7	1075	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	CAND2_uc003bxj.2_Silent_p.S249S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	342					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACGAGTACAGCGATGACGATG	0.612000														122			34		0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47394317	47394317	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47394317G>A	uc002iov.4	-	1	1235	c.771C>T	c.(769-771)cgC>cgT	p.R257R	ZNF652_uc002iow.3_Silent_p.R257R|ZNF652_uc002iou.4_Intron	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CCAGGTACCAGCGAGTGTTAA	0.498000														114			32		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91195956	91195956	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91195956A>C	uc001kgm.3	-	6	1450	c.1149T>G	c.(1147-1149)ttT>ttG	p.F383L	SLC16A12_uc001kgl.3_Missense_Mutation_p.F25L	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	353						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CAAAGTAGCCAAAGGTACAAG	0.502000														83			24		0	0	1	0	0
FOXC2	2303	broad.mit.edu	37	16	86601141	86601141	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601141C>A	uc002fjq.3	+	0	285	c.200C>A	c.(199-201)cCt>cAt	p.P67H		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	67					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						CCCGCGGCGCCTAAGGACCTG	0.652000									Late-onset Hereditary Lymphedema					153			72		1.77355e-41	2.25646e-41	1	1	0
RARB	5915	broad.mit.edu	37	3	25502706	25502706	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:25502706C>A	uc011awl.2	+	1	267	c.201C>A	c.(199-201)agC>agA	p.S67R	RARB_uc003cdi.2_5'UTR|RARB_uc003cdh.3_Missense_Mutation_p.S60R	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	67	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	AGAGCACCAGCTCTGAGGAAC	0.448000														136			26		2.12542e-12	2.45163e-12	1	1	0
ZNRF3	84133	broad.mit.edu	37	22	29446426	29446426	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29446426G>A	uc003aeg.3	+	7	2257	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	ZNRF3_uc021wnq.1_Missense_Mutation_p.G653R	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	753						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCCCCAGTCAGGAAGCTCCCA	0.657000														94			31		0	0	1	0	0
CXorf48	54967	broad.mit.edu	37	X	134305013	134305013	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134305013C>T	uc004eyk.1	-	0	739	c.83G>A	c.(82-84)gGc>gAc	p.G28D	CXorf48_uc004eyl.1_Missense_Mutation_p.G28D	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	28										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTGGGAGGCCCTGCTGCTG	0.612000														140			36		0	0	1	0	0
CHML	1122	broad.mit.edu	37	1	241798002	241798002	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241798002C>A	uc001hzd.3	-	0	1231	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	356					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TGCGTTAAGACCATCTATTGT	0.398000														109			38		3.21399e-22	3.95801e-22	1	1	0
SIGLEC7	27036	broad.mit.edu	37	19	51647836	51647836	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51647836A>G	uc002pvv.1	+	1	676	c.607A>G	c.(607-609)Acc>Gcc	p.T203A	SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron	NM_014385	NP_055200	Q9Y286	SIGL7_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA.	203	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		CTCAGTGCTCACCCTCATCCC	0.657000														267			18		0	0	1	0	0
DEPDC1B	55789	broad.mit.edu	37	5	59940639	59940639	+	Silent	SNP	C	T	T	rs141096982	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:59940639C>T	uc003jsh.3	-	4	715	c.642G>A	c.(640-642)tcG>tcA	p.S214S	DEPDC1B_uc011cqm.2_Silent_p.S214S|DEPDC1B_uc011cqn.2_Silent_p.S187S	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN	Homo sapiens DEP domain containing 1B (DEPDC1B), transcript variant 1, mRNA.	214	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TGATGAACTTCGAATTGACAA	0.303000														43			8		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25068788	25068788	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25068788G>A	uc001upl.3	-	6	770	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	PARP4_uc010tdc.2_Silent_p.L222L	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	222					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGTTTCTTCAGTTCTTCAATG	0.323000														51			17		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347666	89347666	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89347666C>T	uc002fmx.1	-	8	5745	c.5284G>A	c.(5284-5286)Gac>Aac	p.D1762N	ANKRD11_uc002fmy.1_Missense_Mutation_p.D1762N|ANKRD11_uc002fnc.1_Missense_Mutation_p.D1762N|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.D1719N	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1762						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GAGAACCTGTCGAAAAAGGAG	0.637000														191			62		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995139	11995139	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11995139T>A	uc003wvc.1	-	0	1131	c.1131A>T	c.(1129-1131)gaA>gaT	p.E377D	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	377					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GTCTTTCCCATTCACTCTTCT	0.517000														139			15		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78944632	78944632	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78944632T>C	uc001jxn.3	-	3	822	c.645A>G	c.(643-645)ttA>ttG	p.L215L	KCNMA1_uc021ptu.1_Silent_p.L161L|KCNMA1_uc001jxj.2_Silent_p.L215L|KCNMA1_uc001jxk.1_5'Flank|KCNMA1_uc009xrt.1_Silent_p.L35L|KCNMA1_uc001jxo.3_Silent_p.L215L|KCNMA1_uc001jxm.3_Silent_p.L215L|KCNMA1_uc001jxq.3_Silent_p.L215L	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	215					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGTCGATCTGTAATGTGAAAT	0.413000														149			36		0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53814741	53814741	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53814741A>G	uc003jpj.4	+	0	1149	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	SNX18_uc011cqg.2_Missense_Mutation_p.Y320C|SNX18_uc003jpi.4_Missense_Mutation_p.Y320C	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	320	PX.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GACTGGCTGTACGCGCGCCTG	0.627000														115			25		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143094707	143094707	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143094707G>A	uc003qjd.3	-	4	1912	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P390Q(2)		NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTTACTGTGCGGGCTCAGAAG	0.443000														182			42		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153692584	153692584	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153692584C>A	uc004flm.3	+	7	1929	c.1756C>A	c.(1756-1758)Ctg>Atg	p.L586M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	586					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CGAGGCGGTCCTGCTGCCCTC	0.687000														52			18		2.48551e-13	2.89355e-13	1	1	0
ITSN1	6453	broad.mit.edu	37	21	35208915	35208915	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35208915G>T	uc002yta.1	+	28	3908	c.3640G>T	c.(3640-3642)Gac>Tac	p.D1214Y	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.D1093Y|ITSN1_uc002ysy.3_Missense_Mutation_p.D1209Y|ITSN1_uc002ysx.3_Missense_Mutation_p.D1172Y|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.D1138Y|ITSN1_uc010gmg.3_Missense_Mutation_p.D1101Y|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.D1214Y|ITSN1_uc010gmi.3_Missense_Mutation_p.D1177Y|ITSN1_uc002ytb.1_Missense_Mutation_p.D1209Y|ITSN1_uc010gmk.3_Missense_Mutation_p.D1106Y|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.D1209Y|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.D1077Y|ITSN1_uc021wip.1_Missense_Mutation_p.D1032Y|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1214	SH3 5.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold	p.D1214H(2)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCTGACCACAGACATGGACCC	0.522000														145			9		3.86212e-05	4.026e-05	1	1	0
EFEMP1	2202	broad.mit.edu	37	2	56144958	56144958	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56144958G>A	uc002rzi.3	-	4	860	c.359C>T	c.(358-360)gCc>gTc	p.A120V	EFEMP1_uc002rzj.3_Missense_Mutation_p.A120V|EFEMP1_uc010ypc.2_Missense_Mutation_p.A62V	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	120					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCAGCACTGGCCACAAAACC	0.597000														193			46		0	0	1	0	0
NKAP	79576	broad.mit.edu	37	X	119068457	119068457	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119068457G>A	uc004esh.3	-	5	904	c.737_splice	c.e5+1	p.S246_splice	NKAP_uc004esg.3_Splice_Site_p.S133_splice	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	246	Lys-rich.|Necessary for interaction with CIR1.				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			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						AAAAACTGACGATCTGTGTTT	0.289000														63			10		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2147772	2147772	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147772C>T	uc002cos.1	-	31	10386	c.10177G>A	c.(10177-10179)Gtt>Att	p.V3393I	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V3392I|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3393					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATCTGTCCAACAAAGGCCTGC	0.587000														394			79		0	0	1	0	0
ORC5	5001	broad.mit.edu	37	7	103828724	103828724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103828724C>T	uc003vcb.3	-	5	802	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	ORC5_uc011klp.2_Missense_Mutation_p.R88Q|ORC5_uc003vcc.3_Missense_Mutation_p.R220Q	NM_002553	NP_002544	O43913	ORC5_HUMAN	Homo sapiens origin recognition complex, subunit 5 (ORC5), transcript variant 1, mRNA.	220					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTTCAAATCTCGACAAACAGT	0.353000														96			10		0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30876373	30876373	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30876373T>C	uc003tbt.3	+	6	1309	c.1232T>C	c.(1231-1233)gTa>gCa	p.V411A	FAM188B_uc010kwe.3_Missense_Mutation_p.V382A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	411								p.S410L(1)		endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCTCTCAGTAGCAAAGGTA	0.458000														132			45		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114531617	114531617	+	Missense_Mutation	SNP	G	A	A	rs146140804	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114531617G>A	uc001vug.3	-	2	1366	c.314C>T	c.(313-315)gCg>gTg	p.A105V	GAS6_uc001vud.3_Missense_Mutation_p.A404V|GAS6_uc001vuf.3_Missense_Mutation_p.A131V	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	447					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCCGGCCACCGCGATTTTCAT	0.557000														118			26		0	0	1	0	0
SLC44A1	23446	broad.mit.edu	37	9	108110647	108110647	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:108110647C>A	uc004bcn.3	+	4	636	c.415C>A	c.(415-417)Cta>Ata	p.L139I		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	139						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)	AGGTTCAGCCCTATGTAGCTA	0.353000														82			13		4.36969e-10	4.89342e-10	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47364609	47364609	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47364609C>T	uc021qis.1	-	14	1369	c.1314G>A	c.(1312-1314)gtG>gtA	p.V438V	MYBPC3_uc021qir.1_Silent_p.V90V|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	437	Ig-like C2-type 2.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding	p.V437M(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TCTCGCCACCCACCACGCACT	0.622000														43			9		0	0	1	0	0
GUSBP11	91316	broad.mit.edu	37	22	23980923	23980923	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23980923C>T	uc002zxh.4	-	4		c.3567G>A			GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Non-coding_Transcript|GUSBP11_uc010gua.3_Non-coding_Transcript|GUSBP11_uc002zxl.4_Non-coding_Transcript|GUSBP11_uc011aiz.2_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 11 (GUSBP11), non-coding RNA.																		GCTCAGGTAGCTGCTGGCCAC	0.587000														111			21		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45402199	45402199	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45402199C>T	uc002zdx.3	+	10	1983	c.1318C>T	c.(1318-1320)Cgc>Tgc	p.R440C	AGPAT3_uc002zdv.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdw.3_Missense_Mutation_p.R353C|AGPAT3_uc002zdy.3_Missense_Mutation_p.R291C	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	353					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.R353C(1)		large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTTTGGAGTTCGCAGACTGAT	0.448000														257			36		0	0	1	0	0
VGLL4	9686	broad.mit.edu	37	3	11600188	11600188	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11600188C>T	uc010hdx.1	-	4	1139	c.733G>A	c.(733-735)Gac>Aac	p.D245N	VGLL4_uc003bwf.2_Missense_Mutation_p.D239N|VGLL4_uc003bwg.2_Missense_Mutation_p.D244N|VGLL4_uc010hdv.1_Missense_Mutation_p.D155N|VGLL4_uc010hdw.1_Missense_Mutation_p.D159N|VGLL4_uc011aun.1_Missense_Mutation_p.D180N	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		GCAAAGTGGTCGTCCACGGAG	0.642000														279			69		0	0	1	0	0
NGF	4803	broad.mit.edu	37	1	115829359	115829359	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:115829359G>A	uc021osd.1	-	0	58	c.58C>T	c.(58-60)Cca>Tca	p.P20S	NGF_uc001efu.1_Missense_Mutation_p.P20S	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	20					Ras protein signal transduction|activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	Golgi lumen|endosome	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TCTGAGTGTGGTTCCGCCTGT	0.512000														151			25		0	0	1	0	0
WIPI1	55062	broad.mit.edu	37	17	66425048	66425048	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66425048G>A	uc010dey.3	-	9	1086	c.995C>T	c.(994-996)gCg>gTg	p.A332V	WIPI1_uc010wqo.2_Missense_Mutation_p.A250V	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	332					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						ACTGGATGACGCAACTAGCAG	0.458000														54			12		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13428040	13428040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13428040G>A	uc002mwy.3	-	10	1677	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	CACNA1A_uc010dzc.2_Missense_Mutation_p.R7C|CACNA1A_uc010xnd.2_Missense_Mutation_p.R481C|CACNA1A_uc021ups.1_Missense_Mutation_p.R481C|CACNA1A_uc010xne.2_Missense_Mutation_p.R481C|CACNA1A_uc010dze.2_Missense_Mutation_p.R481C|CACNA1A_uc021upt.1_Missense_Mutation_p.R482C	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	482					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.R482C(3)		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)	TTGACCATGCGGCGGATGTAG	0.512000														50			11		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7064578	7064578	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7064578G>A	uc001qsb.2	+	5	919	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	PTPN6_uc001qsa.1_Missense_Mutation_p.R228Q|PTPN6_uc010sfr.1_Missense_Mutation_p.R187Q|PTPN6_uc009zfl.1_Missense_Mutation_p.R226Q|PTPN6_uc010sfs.1_Missense_Mutation_p.R214Q	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	226					G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ATTGAGAACCGAGTGTTGGAA	0.582000														315			62		0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75567812	75567812	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75567812G>A	uc001xrl.3	-	15	2039	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	NEK9_uc001xrk.3_Silent_p.L129L	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	629					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CCAACGCCCAGCTGCCCACAC	0.542000														80			24		0	0	1	0	0
PNPO	55163	broad.mit.edu	37	17	46024046	46024046	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46024046C>A	uc002imo.3	+	6	837	c.684C>A	c.(682-684)gaC>gaA	p.D228E	PNPO_uc010wkz.2_Missense_Mutation_p.D210E|PNPO_uc010wla.2_Missense_Mutation_p.D133E|PNPO_uc010wlb.2_Missense_Mutation_p.D185E	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	Homo sapiens pyridoxamine 5'-phosphate oxidase (PNPO), mRNA.	228					pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity			endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5					Pyridoxal Phosphate(DB00114)	GCCTGCATGACCGGATAGTCT	0.572000											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		172			46		2.51966e-14	2.95897e-14	1	1	0
SDC1	6382	broad.mit.edu	37	2	20405117	20405117	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20405117G>A	uc002rdo.1	-	1	434	c.135C>T	c.(133-135)tcC>tcT	p.S45S	SDC1_uc002rdp.1_Silent_p.S45S|SDC1_uc010exv.3_Silent_p.S45S|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	45					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding	p.F44L(1)		NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CACCTGAGCCGGAGAAGTTGT	0.532000														291			33		0	0	1	0	0
ANO10	55129	broad.mit.edu	37	3	43640110	43640110	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43640110T>C	uc003cmv.3	-	3	557	c.386A>G	c.(385-387)aAa>aGa	p.K129R	ANO10_uc011azs.2_Missense_Mutation_p.K129R|ANO10_uc003cmw.3_Missense_Mutation_p.K63R|ANO10_uc010hil.3_Missense_Mutation_p.K129R|ANO10_uc011azt.2_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	129					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						AAGTTCATGTTTGATAATGAA	0.289000														38			6		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025324	18025324	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025324G>T	uc021trm.1	+	0	3429	c.3210G>T	c.(3208-3210)caG>caT	p.Q1070H	MYO15A_uc021trl.1_Missense_Mutation_p.Q1070H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1070	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTGTGACCAGACCAGGGCCA	0.647000														371			57		1.77205e-36	2.24718e-36	1	1	0
DEPDC1	55635	broad.mit.edu	37	1	68954087	68954087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:68954087G>A	uc001dem.4	-	4	808	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Missense_Mutation_p.R231C	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	231					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		ACTACTCCACGTTTACTTGTA	0.338000														40			5		0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25831741	25831741	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25831741C>T	uc003gru.4	-	5	1288	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	379						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATTGTGGTAGCTTTTCAAATC	0.403000														22			5		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31576881	31576881	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31576881G>A	uc001wrc.1	-	36	6999	c.6510C>T	c.(6508-6510)ggC>ggT	p.G2170G	HECTD1_uc001wra.1_Silent_p.G296G|HECTD1_uc001wrb.1_Silent_p.G296G	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2170	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TGGGTCCCAAGCCAGTTCCTT	0.358000														68			23		0	0	1	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70742526	70742526	+	Splice_Site	SNP	G	A	A	rs141273386		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70742526G>A	uc001dex.4	-	10	1542	c.1216_splice	c.e10-1	p.P406_splice	ANKRD13C_uc009wbk.3_Splice_Site_p.P371_splice	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	406					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						TCTTCGAATCGGCTGCCAAAA	0.313000														54			10		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786590	128786590	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128786590G>A	uc001qet.3	+	2	1538	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	KCNJ5_uc009zck.3_Silent_p.G408G|KCNJ5_uc001qew.3_Silent_p.G408G	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	408					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)	AGCCCAAGGGGCTGGGTGGGT	0.647000														62			14		0	0	1	0	0
KDM3B	51780	broad.mit.edu	37	5	137767233	137767233	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137767233T>C	uc003lcy.1	+	22	5390	c.5190T>C	c.(5188-5190)caT>caC	p.H1730H	KDM3B_uc010jew.1_Silent_p.H1386H|KDM3B_uc011cys.1_Silent_p.H762H	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1730					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						ATACAAATCATGAGGATAAAC	0.423000														86			15		0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139195235	139195235	+	Missense_Mutation	SNP	C	T	T	rs147339826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139195235C>T	uc003eth.3	-	0	118	c.67G>A	c.(67-69)Gcc>Acc	p.A23T		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	23					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity	p.A23S(2)		breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	TTACCCAGGGCCTTCATGTAG	0.547000														94			30		0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265718	62265718	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62265718C>T	uc002jed.3	-	4	2406	c.2255G>A	c.(2254-2256)cGc>cAc	p.R752H	TEX2_uc002jec.3_Missense_Mutation_p.R745H|TEX2_uc002jee.3_Missense_Mutation_p.R745H	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	745					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCTGCTGCTGCGGCTGTGGGT	0.577000														167			33		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674108	4674108	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4674108C>A	uc021qcq.1	+	0	352	c.352C>A	c.(352-354)Ctg>Atg	p.L118M	OR51E1_uc001lzi.4_Missense_Mutation_p.L118M	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L118L(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCACAGTGCTGCTGGCCAT	0.522000														120			21		2.4624e-09	2.73094e-09	1	1	0
ARMC2	84071	broad.mit.edu	37	6	109225603	109225603	+	Missense_Mutation	SNP	C	A	A	rs145604834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109225603C>A	uc003pss.4	+	7	1192	c.1018C>A	c.(1018-1020)Cta>Ata	p.L340I	ARMC2_uc011eao.2_Missense_Mutation_p.L175I	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	340							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAAATAATTCTAGCAGTAAG	0.313000														65			6		0.0215528	0.0217347	1	1	0
RREB1	6239	broad.mit.edu	37	6	7232026	7232026	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7232026C>T	uc003mxb.3	+	9	4186	c.3694C>T	c.(3694-3696)Ctg>Ttg	p.L1232L	RREB1_uc021yky.1_Silent_p.L1232L|RREB1_uc003mxc.3_Silent_p.L1232L|RREB1_uc010jnx.3_Silent_p.L1232L|RREB1_uc021ykz.1_Silent_p.L1232L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1232					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGACAAGCTGCTGAGGGCCAA	0.622000														70			22		0	0	1	0	0
USP25	29761	broad.mit.edu	37	21	17181187	17181187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:17181187G>A	uc011aby.1	+	7	1057	c.840G>A	c.(838-840)atG>atA	p.M280I	USP25_uc002yjz.1_Missense_Mutation_p.M280I|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.M280I	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	280					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CCTTCCAAATGAAAGCTGAAG	0.343000														28			6		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053475	176053475	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176053475G>A	uc010jke.1	-	1	803	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L	SNCB_uc021yij.1_Missense_Mutation_p.A69V|SNCB_uc003mep.3_Missense_Mutation_p.A69V|SNCB_uc003meq.3_Missense_Mutation_p.A69V|SNCB_uc021yig.1_Missense_Mutation_p.A55V|SNCB_uc021yih.1_Missense_Mutation_p.A69V|SNCB_uc021yii.1_Missense_Mutation_p.A55V			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAGAACACAGCTCCTCCCAG	0.582000														122			23		0	0	1	0	0
TEX13A	56157	broad.mit.edu	37	X	104464827	104464827	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104464827T>C	uc004ema.3	-	1	367	c.255A>G	c.(253-255)ctA>ctG	p.L85L	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.L85L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	85						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGTGCCTTTGTAGCTGTGCCT	0.627000														81			29		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27430619	27430619	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27430619G>A	uc002hdt.1	-	20	3663	c.3505C>T	c.(3505-3507)Cgg>Tgg	p.R1169W	MYO18A_uc010wbc.1_Missense_Mutation_p.R711W|MYO18A_uc002hds.2_Missense_Mutation_p.R711W|MYO18A_uc010csa.1_Missense_Mutation_p.R1169W|MYO18A_uc002hdu.1_Missense_Mutation_p.R1169W|MYO18A_uc010wbd.1_Missense_Mutation_p.R838W	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1169	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CAACTCACCCGGCTCAGGCCC	0.647000														91			23		0	0	1	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325458	47325458	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47325458C>A	uc001cqo.1	-	9		c.1109_splice	c.e9-1							Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CTCAGGTGTTCCCTGGGTACA	0.488000														102			22		3.10358e-05	3.24492e-05	1	1	0
TCN2	6948	broad.mit.edu	37	22	31011762	31011762	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011762C>A	uc003aip.2	+	5	1177	c.928C>A	c.(928-930)Ctg>Atg	p.L310M	TCN2_uc003air.2_Missense_Mutation_p.L283M	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	310					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCAGACTGTCTGGCACCACG	0.532000														206			15		6.72482e-11	7.60803e-11	1	1	0
RFX6	222546	broad.mit.edu	37	6	117199106	117199106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117199106C>T	uc003pxm.3	+	1	434	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	124					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACACAGCTCACGCTGCAGTGG	0.468000														55			9		0	0	1	0	0
BDH2	56898	broad.mit.edu	37	4	104003289	104003289	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104003289G>A	uc003hwz.3	-	8	738	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_020139	NP_064524	Q9BUT1	BDH2_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 2 (BDH2), mRNA.	211					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	p.F211F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		CTGCAGTTGCGAATCTTCCCG	0.463000														45			11		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45753338	45753338	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45753338T>G	uc003tne.4	+	19	3122	c.3104T>G	c.(3103-3105)tTt>tGt	p.F1035C		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	1035	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CCCTACCACTTTGTGTGCCGA	0.537000														126			25		0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183899752	183899752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183899752C>T	uc021xig.1	+	7	923	c.880C>T	c.(880-882)Cga>Tga	p.R294*	AP2M1_uc003fmw.3_Nonsense_Mutation_p.R292*|AP2M1_uc021xif.1_Nonsense_Mutation_p.R110*|AP2M1_uc011bqy.2_Nonsense_Mutation_p.R164*|AP2M1_uc011bqz.2_Nonsense_Mutation_p.R110*	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	294	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCCGCTAGTGCGAGAAGTGGG	0.542000														74			16		0	0	1	0	0
TRABD	80305	broad.mit.edu	37	22	50635949	50635949	+	Silent	SNP	C	T	T	rs139568052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50635949C>T	uc003bjs.1	+	6	708	c.603C>T	c.(601-603)atC>atT	p.I201I	TRABD_uc003bjr.2_Silent_p.I85I	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	201										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		AGAGGGCCATCGCAGCGCTCT	0.657000														157			35		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464503	16464503	+	Missense_Mutation	SNP	G	A	A	rs141027815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16464503G>A	uc001aya.2	-	4	1312	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	EPHA2_uc010oca.2_Missense_Mutation_p.S386L	NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	386	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	AGGAGGCTCCGAGTAGCGCAC	0.647000														75			10		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138655861	138655861	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138655861A>G	uc003qhu.3	+	32	6049	c.5878A>G	c.(5878-5880)Acc>Gcc	p.T1960A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1960					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGGGAAAGAAACCCCTTCCGA	0.647000														51			15		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159277659	159277659	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159277659G>A	uc001ftq.3	+	5	808	c.711G>A	c.(709-711)aaG>aaA	p.K237K		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	237						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TGAAGATTAAGAGAACCAGGA	0.368000														68			14		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35163609	35163609	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:35163609C>T	uc003teq.1	-	13	1593	c.486_splice	c.e13+1	p.H162_splice	DPY19L2P1_uc003tep.1_Splice_Site|DPY19L2P1_uc010kwz.1_Splice_Site					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		AAAGTACTTACGTGGTCTGAA	0.313000														67			14		0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31531903	31531903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31531903C>T	uc003aka.3	-	6	1465	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	446					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACCCTGATGGCCCTAGGGTCT	0.597000														121			32		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141799596	141799596	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799596C>T	uc003yvu.3	-	13	1464	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	PTK2_uc011ljq.2_Missense_Mutation_p.R46Q|PTK2_uc003yvp.3_Missense_Mutation_p.R46Q|PTK2_uc003yvq.3_5'UTR|PTK2_uc003yvr.3_Missense_Mutation_p.R284Q|PTK2_uc003yvs.3_Missense_Mutation_p.R385Q|PTK2_uc011ljr.2_Missense_Mutation_p.R385Q|PTK2_uc003yvt.3_Missense_Mutation_p.R407Q|PTK2_uc003yvv.3_Missense_Mutation_p.R272Q	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	385					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGCGTGTGTCCGCATGCCTTG	0.512000														315			49		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147108745	147108745	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108745G>A	uc011bno.2	-	3	1313	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A256V|ZIC4_uc021xff.1_Missense_Mutation_p.A364V|ZIC4_uc003ewd.2_Missense_Mutation_p.A326V|ZIC4_uc021xfg.1_Missense_Mutation_p.A120V	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	326						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GGTACGCGCCGCCACCGCCGC	0.706000														84			20		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52995674	52995674	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52995674C>A	uc003pbp.3	-	4	706	c.497G>T	c.(496-498)aGa>aTa	p.R166I		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	166						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CATGGCTCTTCTTGCCTCAGC	0.423000														125			32		3.80469e-20	4.63894e-20	1	1	0
STXBP5	134957	broad.mit.edu	37	6	147684474	147684474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:147684474C>T	uc003qlz.3	+	23	2724	c.2549C>T	c.(2548-2550)aCt>aTt	p.T850I	STXBP5_uc010khz.2_Missense_Mutation_p.T814I|STXBP5_uc003qly.3_Missense_Mutation_p.T505I	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	850					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		ATTTTAGGTACTATATTGAGG	0.333000														34			10		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953963	48953963	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953963C>A	uc002pjd.2	+	4	956	c.723C>A	c.(721-723)ctC>ctA	p.L241L		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	241						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACATCCACCTCTGGACACCTA	0.637000														140			30		7.01153e-11	7.92827e-11	1	1	0
C3P1	388503	broad.mit.edu	37	19	10166279	10166279	+	RNA	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10166279T>A	uc010dwx.2	+	15		c.1872T>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						GCTCACAAGCTATGTGTTCCG	0.552000														294			30		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20269275	20269275	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20269275A>C	uc002wru.3	+	22	2933	c.2819A>C	c.(2818-2820)aAg>aCg	p.K940T	C20orf26_uc002wrw.3_Intron	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	940								p.K940N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTCTGTGAGAAGAATGTGGAT	0.403000														275			45		0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3076711	3076711	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3076711A>G	uc002ctb.2	+	7	811	c.515A>G	c.(514-516)cAc>cGc	p.H172R	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.H172R|THOC6_uc002cta.2_Missense_Mutation_p.H148R	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	172					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GACTACATCCACTGCCTGGCA	0.607000														42			11		0	0	1	0	0
EML3	256364	broad.mit.edu	37	11	62373584	62373584	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62373584C>T	uc010rly.1	-	12	1915	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	EML3_uc001ntr.1_Missense_Mutation_p.R508H|EML3_uc001nts.1_Missense_Mutation_p.R508H|EML3_uc001ntt.1_Missense_Mutation_p.R420H|EML3_uc001ntu.1_Missense_Mutation_p.R536H|EML3_uc009yny.1_Missense_Mutation_p.R319H			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	536						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TACCAGCCGGCGGTCCCGCCC	0.642000														355			73		0	0	1	0	0
MOSPD3	64598	broad.mit.edu	37	7	100210841	100210841	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100210841A>G	uc003uvq.3	+	2	432	c.230A>G	c.(229-231)tAc>tGc	p.Y77C	MOSPD3_uc003uvr.3_Missense_Mutation_p.Y77C|MOSPD3_uc003uvs.3_Missense_Mutation_p.Y77C|MOSPD3_uc003uvt.3_Missense_Mutation_p.Y77C	NM_001040097	NP_076438	O75425	MSPD3_HUMAN	Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA.	77	MSP.					integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCTGCCAAATACACGGTGTTT	0.582000														311			76		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669909	158669909	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669909A>G	uc001fsu.1	-	0	534	c.534T>C	c.(532-534)tgT>tgC	p.C178C		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGAGGAAGTCACAGAAGATAT	0.478000														109			41		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31467303	31467303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31467303G>A	uc002rnu.3	+	1	999	c.391G>A	c.(391-393)Gcc>Acc	p.A131T	EHD3_uc010ymt.2_Missense_Mutation_p.A131T	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	131					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CTTTGGCAACGCCTTCTTGAA	0.537000														84			25		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75844551	75844551	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75844551C>A	uc021zbv.1	-	30	5450	c.5415G>T	c.(5413-5415)caG>caT	p.Q1805H	COL12A1_uc021zbw.1_Missense_Mutation_p.Q641H|COL12A1_uc003phs.3_Missense_Mutation_p.Q1805H|COL12A1_uc003pht.3_Missense_Mutation_p.Q641H	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1805	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCACACTGTTCTGCCGTCCTC	0.478000														89			26		1.64293e-13	1.91604e-13	1	1	0
UFD1L	7353	broad.mit.edu	37	22	19459280	19459280	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19459280G>A	uc002zpm.2	-	3	351	c.221C>T	c.(220-222)tCg>tTg	p.S74L	UFD1L_uc002zpo.2_Missense_Mutation_p.S74L|UFD1L_uc011agy.1_Missense_Mutation_p.S74L|UFD1L_uc002zpp.2_Missense_Mutation_p.S27L|UFD1L_uc010grq.2_Missense_Mutation_p.S27L	NM_005659	NP_005650	Q92890	UFD1_HUMAN	Homo sapiens ubiquitin fusion degradation 1 like (yeast) (UFD1L), transcript variant 1, mRNA.	74					skeletal system development|ubiquitin-dependent protein catabolic process	cytosol|nucleus	protein binding|ubiquitin-specific protease activity			large_intestine(3)|upper_aerodigestive_tract(1)	4	Colorectal(54;0.0993)					CATGCGGTCCGAATTCTTATT	0.522000														117			31		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176294	140176294	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176294C>T	uc003lhd.2	+	0	1851	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.P582L|PCDHAC2_uc011czy.2_Missense_Mutation_p.P582L	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	595					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGCTGGTGCCGTGGTCGGTG	0.657000														255			58		0	0	1	0	0
CHRM5	1133	broad.mit.edu	37	15	34355142	34355142	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34355142C>T	uc001zhk.1	+	2	894	c.224C>T	c.(223-225)gCa>gTa	p.A75V	CHRM5_uc001zhl.1_Missense_Mutation_p.A75V|CHRM5_uc021sir.1_Missense_Mutation_p.A75V	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	75					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTAGCCTGTGCAGATCTCATC	0.493000														95			19		0	0	1	0	0
SNX33	257364	broad.mit.edu	37	15	75949349	75949349	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75949349C>T	uc002bau.3	+	1	1614	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	SNX33_uc002bav.3_Silent_p.G119G	NM_153271	NP_695003	Q8WV41	SNX33_HUMAN	Homo sapiens sorting nexin 33 (SNX33), mRNA.	506	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						GTGACGAGGGCCGCATGGTGC	0.647000														116			26		0	0	1	0	0
POMT2	29954	broad.mit.edu	37	14	77787020	77787020	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77787020G>A	uc001xti.2	-	0	206	c.5C>T	c.(4-6)cCg>cTg	p.P2L	POMT2_uc010asr.2_5'UTR|GSTZ1_uc001xtj.3_5'Flank|GSTZ1_uc001xtk.3_5'Flank|GSTZ1_uc010ass.3_5'Flank|GSTZ1_uc001xtl.3_5'Flank|GSTZ1_uc001xtm.3_5'Flank	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	2					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		CGTGGCCGGCGGCATCTTCCC	0.746000														51			16		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103783272	103783272	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103783272C>T	uc009xwy.1	-	7	733	c.631G>A	c.(631-633)Gtc>Atc	p.V211I		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	211						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GCCAAGAGGACGACAGCATCA	0.458000														105			18		0	0	1	0	0
CASP2	835	broad.mit.edu	37	7	142991359	142991359	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142991359C>A	uc003wco.3	+	4	753	c.512C>A	c.(511-513)cCt>cAt	p.P171H	CASP2_uc003wcp.3_Intron|CASP2_uc011kta.2_Missense_Mutation_p.P55H|CASP2_uc003wcq.3_Missense_Mutation_p.P140H	NM_032982	NP_116764	P42575	CASP2_HUMAN	Homo sapiens caspase 2, apoptosis-related cysteine peptidase (CASP2), transcript variant 1, mRNA.	171					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					AAAGATGGTCCTGTCTGCCTT	0.383000														141			32		3.03874e-20	3.70712e-20	1	1	0
HYAL1	3373	broad.mit.edu	37	3	50339672	50339672	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50339672C>A	uc003czp.3	-	1	848	c.716G>T	c.(715-717)aGc>aTc	p.S239I	HYAL3_uc003cze.2_5'Flank|HYAL3_uc003czf.2_5'Flank|HYAL3_uc003czd.2_5'Flank|HYAL3_uc003czg.2_5'Flank|HYAL3_uc021wyo.1_5'Flank|HYAL3_uc003czk.4_5'Flank|HYAL3_uc003czj.3_5'Flank|HYAL1_uc003czm.3_Missense_Mutation_p.S57I|HYAL1_uc003czo.3_Intron|HYAL1_uc003czq.3_Missense_Mutation_p.S239I|HYAL1_uc003czr.3_Missense_Mutation_p.S239I|HYAL1_uc003czn.3_Intron|HYAL1_uc003czs.3_Missense_Mutation_p.S239I|HYAL1_uc003czt.3_Missense_Mutation_p.S239I	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	239						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGGGCACGGCTCTGGCCCCA	0.587000														110			10		0.00829132	0.00840732	1	1	0
NAALAD2	10003	broad.mit.edu	37	11	89903276	89903276	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89903276A>G	uc001pdf.4	+	12	1491	c.1382A>G	c.(1381-1383)tAc>tGc	p.Y461C	NAALAD2_uc009yvx.3_Missense_Mutation_p.Y428C|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	461	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CCCCTTCTTTACCAATTAGTG	0.313000														87			16		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69002461	69002461	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69002461G>T	uc010fdg.3	+	1	589	c.170G>T	c.(169-171)aGg>aTg	p.R57M	ARHGAP25_uc010yqk.2_Missense_Mutation_p.R31M|ARHGAP25_uc010yql.2_Missense_Mutation_p.R57M|ARHGAP25_uc002sev.3_Missense_Mutation_p.R50M|ARHGAP25_uc002sew.3_Missense_Mutation_p.R50M|ARHGAP25_uc002sex.3_Missense_Mutation_p.R50M|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	57	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAGAAGCAGAGGTCCATCGTG	0.582000														296			96		9.07295e-45	1.15589e-44	1	1	0
ZNF790	388536	broad.mit.edu	37	19	37310733	37310733	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37310733T>C	uc021utk.1	-	4	942	c.513A>G	c.(511-513)gaA>gaG	p.E171E	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Silent_p.E171E|ZNF790_uc021utl.1_Silent_p.E171E|ZNF790_uc021utm.1_Silent_p.E171E	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTCTTTAAATTCATTCAGTT	0.383000														88			27		0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55602902	55602902	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55602902C>A	uc010igr.3	+	18	2699	c.2612C>A	c.(2611-2613)cCt>cAt	p.P871H	KIT_uc010igs.3_Missense_Mutation_p.P867H	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	871	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCCCTATCCTGGAATGCCG	0.458000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors					112			24		1.37878e-21	1.69431e-21	1	1	0
MRPL54	116541	broad.mit.edu	37	19	3762792	3762792	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3762792G>A	uc002lyq.4	+	0	128	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	APBA3_uc002lyp.1_5'Flank	NM_172251	NP_758455	Q6P161	RM54_HUMAN	Homo sapiens mitochondrial ribosomal protein L54 (MRPL54), nuclear gene encoding mitochondrial protein, mRNA.	32						mitochondrion|ribosome				breast(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACTCCTGGCCCGGGATTA	0.622000														165			22		0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629124	1629124	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1629124G>A	uc001ltw.1	-	0	570	c.492C>T	c.(490-492)tgC>tgT	p.C164C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	164	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		actgggaacagcagGGCTTAC	0.622000														565			123		0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35705059	35705059	+	Silent	SNP	G	A	A	rs56183341	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35705059G>A	uc003ola.3	+	0	201	c.174G>A	c.(172-174)ccG>ccA	p.P58P	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Intron	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	55							binding										GTGAGTGTCCGGGCCCTGGGG	0.612000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			26		0	0	1	0	0
HSP90AB4P	664618	broad.mit.edu	37	15	58985036	58985036	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:58985036C>T	uc002afh.1	-	0	289	c.289G>A	c.(289-291)Gca>Aca	p.A97T	ADAM10_uc002afd.1_Intron|ADAM10_uc010bgc.1_Intron|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron					Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 4, pseudogene (HSP90AB4P), non-coding RNA.																		GAGATTTCTGCACAAGACTGA	0.443000														53			8		0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161017863	161017863	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161017863C>T	uc001fxl.3	-	11	3294	c.2948G>A	c.(2947-2949)cGa>cAa	p.R983Q	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Missense_Mutation_p.R772Q|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R829Q|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R656Q	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	983					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCGAGAAGCTCGGGACCCCCA	0.592000														230			49		0	0	1	0	0
HK2	3099	broad.mit.edu	37	2	75094762	75094762	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75094762G>T	uc002snd.3	+	3	2153	c.227_splice	c.e3-1	p.E76_splice		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	76	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTTCTCTGCAGAACACGGAGA	0.488000														465			100		6.78028e-52	8.65529e-52	1	1	0
CNOT6L	246175	broad.mit.edu	37	4	78650176	78650176	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650176G>A	uc011ccd.2	-	9	1215	c.1084C>T	c.(1084-1086)Cat>Tat	p.H362Y	CNOT6L_uc003hks.3_Missense_Mutation_p.H362Y|CNOT6L_uc003hkt.1_Missense_Mutation_p.H205Y	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	362					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding	p.L361F(1)		kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						GGGTCCCAATGCATGTGGGCA	0.408000														155			28		0	0	1	0	0
ZNF552	79818	broad.mit.edu	37	19	58320176	58320176	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58320176C>A	uc002qqg.3	-	2	626	c.456G>T	c.(454-456)gaG>gaT	p.E152D	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Missense_Mutation_p.E148D	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACAACGCCTCCTCAACACTCC	0.483000														198			37		3.93418e-24	4.88392e-24	1	1	0
WDR92	116143	broad.mit.edu	37	2	68361924	68361924	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68361924T>G	uc002see.1	-	6	857	c.776A>C	c.(775-777)aAa>aCa	p.K259T	WDR92_uc002sed.1_Non-coding_Transcript|WDR92_uc002sef.1_Missense_Mutation_p.K259T|WDR92_uc002seg.1_Missense_Mutation_p.K158T	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	259					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						CACAGTAGATTTATGAGCCTA	0.473000														116			26		0	0	1	0	0
XRCC5	7520	broad.mit.edu	37	2	216977824	216977824	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216977824A>G	uc002vfy.3	+	1	247	c.107A>G	c.(106-108)aAg>aGg	p.K36R		NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	36					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CAAGCAAAGAAGGTGATAACC	0.438000								Non-homologous end-joining						120			28		0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750764	94750764	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94750764C>T	uc003hta.1	+	0	687	c.687C>T	c.(685-687)gcC>gcT	p.A229A		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	229					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CGCCTCCAGCCTCCTGCAAAA	0.647000														138			37		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922482	24922482	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922482G>T	uc001ywo.3	+	0	1942	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	490	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGTCGTAGGAGCAGCGCCTCT	0.517000														361			71		2.10328e-26	2.62844e-26	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20795190	20795190	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20795190G>A	uc010kuh.3	+	27	3954	c.3717G>A	c.(3715-3717)gaG>gaA	p.E1239E	ABCB5_uc003suw.4_Silent_p.E794E	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	794					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCATCAAGAGCTCCTGAGAA	0.413000														88			17		0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122078275	122078275	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122078275T>G	uc021xrj.1	-	6	647	c.568A>C	c.(568-570)Acc>Ccc	p.T190P	TNIP3_uc010ing.3_Missense_Mutation_p.T113P|TNIP3_uc011cgj.2_Missense_Mutation_p.T183P|TNIP3_uc010ini.3_Missense_Mutation_p.T113P	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	113										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGGTCCCGGGTCAGGTCGCGC	0.647000														699			32		0	0	1	0	0
SNX7	51375	broad.mit.edu	37	1	99161105	99161105	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99161105G>T	uc010ouc.2	+	4	723	c.671G>T	c.(670-672)gGc>gTc	p.G224V	SNX7_uc001dsa.3_Missense_Mutation_p.G160V|SNX7_uc010oud.2_Missense_Mutation_p.G169V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	160					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		CAAGGTCCTGGCTTGCTAAGC	0.408000														114			13		6.81908e-15	8.04059e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179469867	179469867	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179469867C>T	uc021vsy.1	-	228	46558	c.46333G>A	c.(46333-46335)Gca>Aca	p.A15445T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A9140T|TTN_uc021vta.1_Missense_Mutation_p.A9073T|TTN_uc021vtb.1_Missense_Mutation_p.A8948T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16372	Fibronectin type-III 12.						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)			ATCTGAAGTGCATCAGTGGGT	0.478000														114			20		0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79924945	79924945	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79924945G>A	uc003kgy.1	-	5	1017	c.525C>T	c.(523-525)ggC>ggT	p.G175G	DHFR_uc011ctl.2_3'UTR|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	175	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TGTACTTAATGCCTTTCTCCT	0.323000														21			8		0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37447026	37447026	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37447026G>A	uc001uvw.3	-	2	782	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	SMAD9_uc001uvx.3_Missense_Mutation_p.H147Y|SMAD9_uc010tep.2_5'UTR	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	147					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTCACTGTGTCTTGGCACG	0.527000														82			14		0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118886795	118886795	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118886795G>A	uc003pya.2	-	3	993	c.926C>T	c.(925-927)aCa>aTa	p.T309I	CEP85L_uc003pxz.2_Missense_Mutation_p.T306I|CEP85L_uc003pyb.3_Missense_Mutation_p.T306I|CEP85L_uc011ebj.2_Missense_Mutation_p.T204I|CEP85L_uc003pyc.3_Missense_Mutation_p.T309I|CEP85L_uc011ebl.1_Missense_Mutation_p.T204I	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	306						centrosome											CAAAGGATTTGTCCGCAGCTG	0.448000														109			22		0	0	1	0	0
TAF1A	9015	broad.mit.edu	37	1	222732018	222732018	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:222732018A>G	uc009xdz.2	-	10	1546	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	TAF1A_uc009xdy.1_Missense_Mutation_p.V137A|TAF1A_uc001hni.2_Missense_Mutation_p.V332A|TAF1A_uc001hnj.3_Missense_Mutation_p.V446A	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	446					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCTTGGATTTACAATACTGTA	0.308000														45			15		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926451	106926451	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106926451C>T	uc021ser.1	-	325		c.11417G>A								Parts of antibodies, mostly variable regions.																		CCAGGCTGTACCACGACTCCC	0.562000														542			57		0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50402680	50402680	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50402680G>A	uc021thx.1	-	0	166	c.6C>T	c.(4-6)ggC>ggT	p.G2G	BRD7_uc002ege.2_Silent_p.G2G	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	2					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TGTGCTTCTTGCCCATGTCCG	0.771000														94			20		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113269997	113269997	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113269997G>A	uc001pny.3	+	7	1400	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	436							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GCACTTTGCAGCCCAGAATGG	0.647000														35			6		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45009400	45009400	+	Silent	SNP	G	A	A	rs141395808		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45009400G>A	uc003tmh.2	-	10	1551	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	MYO1G_uc003tmg.2_Silent_p.D231D|MYO1G_uc010kym.2_Silent_p.D354D|MYO1G_uc003tmi.1_Silent_p.D381D|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.D231D	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	469	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGCAGGCCTCGTCCAGCACGG	0.612000														344			73		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562094	32562094	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32562094A>C	uc001wrl.3	+	1	2458	c.2219A>C	c.(2218-2220)aAa>aCa	p.K740T	ARHGAP5_uc001wrm.3_Missense_Mutation_p.K740T|ARHGAP5_uc001wrn.3_Missense_Mutation_p.K740T|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	740					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATCCTCGTAAATTTAATGAA	0.403000														144			37		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150076139	150076139	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150076139G>A	uc003lst.3	-	5	623	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	167					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTCACCCAGAAGGAGCAAA	0.483000														199			12		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118441693	118441693	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118441693G>T	uc001ehf.3	-	6	1081	c.782C>A	c.(781-783)cCt>cAt	p.P261H	GDAP2_uc001ehg.3_Missense_Mutation_p.P261H	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	261										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TGGAGCACCAGGTTTCTCACT	0.433000														173			14		0.000219431	0.000226893	1	1	0
SIGIRR	59307	broad.mit.edu	37	11	407518	407518	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:407518G>A	uc001lpg.3	-	4	685	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	SIGIRR_uc001lpd.2_Missense_Mutation_p.R178C|SIGIRR_uc001lpf.2_Missense_Mutation_p.R178C|SIGIRR_uc001lpe.1_Missense_Mutation_p.R178C			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	178	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACGAACTTGCGGTCCTCGGGG	0.667000														30			4		0	0	1	0	0
BMPR1A	657	broad.mit.edu	37	10	88659555	88659555	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88659555C>A	uc001kdy.3	+	5	886	c.338C>A	c.(337-339)tCt>tAt	p.S113Y		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	113					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						TTTTAGGATTCTCCAAAAGCC	0.353000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					77			24		2.21704e-12	2.55528e-12	1	1	0
XRCC6BP1	91419	broad.mit.edu	37	12	58335665	58335665	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58335665G>A	uc001sqp.3	+	0	221	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_033276	NP_150592	Q9Y6H3	ATP23_HUMAN	Homo sapiens XRCC6 binding protein 1 (XRCC6BP1), mRNA.	61					double-strand break repair via nonhomologous end joining	DNA-dependent protein kinase-DNA ligase 4 complex	DNA-dependent protein kinase activity|metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	11						GAAGACGCTGGAGACAAGTAG	0.617000														55			16		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117846662	117846662	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117846662G>A	uc004bjj.4	-	3	2369	c.1957C>T	c.(1957-1959)Ctt>Ttt	p.L653F	TNC_uc010mvf.3_Missense_Mutation_p.L653F|TNC_uc022bmj.1_Missense_Mutation_p.L653F	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	653	Fibronectin type-III 1.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TACACGACAAGGTACTCTGTG	0.582000														113			28		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61499068	61499068	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61499068G>A	uc002jal.4	+	24	5748	c.5725G>A	c.(5725-5727)Gca>Aca	p.A1909T	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.A1020T	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1909							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AACCAACAATGCACAGAATGG	0.542000														131			32		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10412734	10412734	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10412734C>T	uc001aqx.4	+	37	4197	c.3995C>T	c.(3994-3996)gCc>gTc	p.A1332V	KIF1B_uc001aqw.4_Missense_Mutation_p.A1286V|KIF1B_uc001aqy.3_Missense_Mutation_p.A1306V|KIF1B_uc001aqz.3_Missense_Mutation_p.A1332V|KIF1B_uc001ara.3_Missense_Mutation_p.A1292V|KIF1B_uc001arb.3_Missense_Mutation_p.A1318V	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1332					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.G1332V(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GCAGTTGATGCCATCCTCTCC	0.438000														102			27		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518147	86518147	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518147A>G	uc004ana.3	-	3	1430	c.1286T>C	c.(1285-1287)gTc>gCc	p.V429A	KIF27_uc010mpw.3_Missense_Mutation_p.V429A|KIF27_uc010mpx.3_Missense_Mutation_p.V429A	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	429					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTTTAGTCTGACAGTATCTTT	0.468000														115			22		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708580	708580	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708580G>A	uc002cii.1	+	22	2876	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.R468H|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.R115H|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	941										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GAGGACGCCCGCTTCCTGCTG	0.662000														176			51		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56639194	56639194	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56639194C>T	uc001skm.4	-	20	2461	c.2371G>A	c.(2371-2373)Gga>Aga	p.G791R		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	791							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GGCGAGTATCCGCTGTAATCC	0.617000														59			18		0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39978520	39978520	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39978520C>A	uc002hxv.2	+	9	1934	c.1609C>A	c.(1609-1611)Ctc>Atc	p.L537I	FKBP10_uc002hxw.1_Missense_Mutation_p.L301I	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	537					protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CAAAGGACGCCTCATGCCTGG	0.602000														75			8		2.74318e-10	3.085e-10	1	1	0
USP30	84749	broad.mit.edu	37	12	109523652	109523652	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109523652G>A	uc010sxi.2	+	12	1574	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	USP30_uc001tnu.4_Silent_p.L459L|USP30_uc001tnw.4_Silent_p.L207L	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	490					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						AGGAGGTCCTGTCCTCCAGCG	0.597000														129			15		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085191	64085191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085191G>A	uc003dmf.3	-	7	2657	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	691	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632000														176			43		0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76592577	76592577	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:76592577C>T	uc002fex.1	+	22	4072	c.3933C>T	c.(3931-3933)ttC>ttT	p.F1311F	CNTNAP4_uc002feu.1_Silent_p.F1307F|CNTNAP4_uc002fev.1_Silent_p.F1172F|CNTNAP4_uc010chb.1_Silent_p.F1235F	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1308					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AGTACTTCTTCTGATTGGCAG	0.363000														30			13		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39109231	39109231	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39109231A>C	uc004abi.3	-	14	2530	c.2291T>G	c.(2290-2292)aTt>aGt	p.I764S	CNTNAP3_uc004abj.3_Missense_Mutation_p.I763S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.I764S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	764	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGTCATCACAATCTGAGTGAC	0.453000														63			18		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206664154	206664154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206664154C>T	uc001hdz.2	+	16	2274	c.1696C>T	c.(1696-1698)Ctt>Ttt	p.L566F	IKBKE_uc001hea.2_Missense_Mutation_p.L481F|IKBKE_uc009xbv.2_Missense_Mutation_p.L566F	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	566					DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TCCTCCAGGGCTTGGCTACAA	0.542000											OREG0014171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		162			19		0	0	1	0	0
CCT6A	908	broad.mit.edu	37	7	56125777	56125777	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56125777T>C	uc003trl.1	+	5	870	c.706T>C	c.(706-708)Tca>Cca	p.S236P	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.S191P|CCT6A_uc011kcu.1_Missense_Mutation_p.S205P|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	236					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGTAACGTGTCATTAGAGTA	0.408000														44			11		0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197654005	197654005	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197654005A>G	uc002uts.3	-	5	973	c.816T>C	c.(814-816)gaT>gaC	p.D272D	GTF3C3_uc010zgu.2_Silent_p.D272D|GTF3C3_uc002utu.3_Silent_p.D272D	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	272						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCCTATAACCATCCATGGCCA	0.398000														56			24		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157495196	157495196	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157495196C>T	uc003qqp.3	+	9	3041	c.3041C>T	c.(3040-3042)cCt>cTt	p.P1014L	ARID1B_uc003qqo.3_Missense_Mutation_p.P1027L|ARID1B_uc003qqn.3_Missense_Mutation_p.P1014L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1014					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTGCCCCTGCCTCTCAAAGCA	0.498000														93			15		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308082	180308082	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180308082G>T	uc002unn.4	-	9	1915	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	ZNF385B_uc002unj.3_Silent_p.P335P|ZNF385B_uc002unl.3_Silent_p.P334P|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.P361P	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	437						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGAGGCAGAGGGCCGGGGTG	0.642000														64			9		0.0581538	0.0584306	1	1	0
SLC35A3	23443	broad.mit.edu	37	1	100472710	100472710	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100472710C>T	uc001dsr.1	+	3	690	c.589C>T	c.(589-591)Cag>Tag	p.Q197*	SLC35A3_uc001dsp.1_Nonsense_Mutation_p.Q155*|SLC35A3_uc009wdy.1_Nonsense_Mutation_p.Q155*|SLC35A3_uc001dss.1_Nonsense_Mutation_p.Q74*	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.	155					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	UDP-N-acetylglucosamine transmembrane transporter activity|sugar:hydrogen symporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGCTTTTGTACAGGTAACTAT	0.308000														68			6		0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123963770	123963770	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123963770C>T	uc022bag.1	+	0	20	c.20C>T	c.(19-21)tCt>tTt	p.S7F	ZHX2_uc003ypk.1_Missense_Mutation_p.S7F	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	7						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AAACGAAAATCTACAACTCCA	0.493000														35			10		0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58578888	58578888	+	Nonsense_Mutation	SNP	C	T	T	rs144688815		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58578888C>T	uc002qrg.3	+	3	1111	c.1108C>T	c.(1108-1110)Cga>Tga	p.R370*	ZNF135_uc002qre.3_Nonsense_Mutation_p.R346*|ZNF135_uc002qrf.3_Nonsense_Mutation_p.R304*|ZNF135_uc010yhq.2_Nonsense_Mutation_p.R358*|ZNF135_uc010yhr.2_Nonsense_Mutation_p.R167*|ZNF135_uc002qrd.2_Nonsense_Mutation_p.R358*|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	358					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCAGCATCTGCGAATCCACAC	0.572000														83			22		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66063454	66063454	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66063454G>T	uc011dxu.1	-	8	1894	c.1356C>A	c.(1354-1356)taC>taA	p.Y452*	EYS_uc003peq.3_Nonsense_Mutation_p.Y452*|EYS_uc003per.1_Nonsense_Mutation_p.Y452*|EYS_uc021zbn.1_Nonsense_Mutation_p.Y452*	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	452					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GATGAATTAGGTAAACATTCT	0.368000														64			12		0.000978159	0.0010017	1	1	0
TSC22D1	8848	broad.mit.edu	37	13	45149075	45149075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45149075C>T	uc001uzn.4	-	0	1627	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TSC22D1_uc001uzo.2_Missense_Mutation_p.S379N|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	379					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGGAACACTGCTAACAGCAGC	0.483000														105			15		0	0	1	0	0
GSN	2934	broad.mit.edu	37	9	124081117	124081117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124081117G>A	uc004blf.1	+	8	1364	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	GSN_uc004bld.1_Missense_Mutation_p.A384T|GSN_uc010mvr.1_Missense_Mutation_p.A395T|GSN_uc010mvq.1_Missense_Mutation_p.A395T|GSN_uc010mvu.1_Missense_Mutation_p.A384T|GSN_uc010mvt.1_Missense_Mutation_p.A384T|GSN_uc010mvs.1_Missense_Mutation_p.A384T|GSN_uc004ble.1_Missense_Mutation_p.A384T|GSN_uc010mvv.1_Missense_Mutation_p.A384T|GSN_uc011lyh.1_Missense_Mutation_p.A401T|GSN_uc011lyi.1_Missense_Mutation_p.A384T|GSN_uc011lyj.1_Missense_Mutation_p.A408T|GSN_uc004blg.1_Missense_Mutation_p.A166T	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	435	Actin-binding, Ca-sensitive (Potential).				actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCCATGGCCGCCCAGCACGG	0.637000														205			49		0	0	1	0	0
LOC646214	646214	broad.mit.edu	37	15	21936936	21936936	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:21936936C>T	uc010tzj.1	-	0		c.3804G>A								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		CACGGTACTGCGTTTGCTCTG	0.493000														239			21		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21318812	21318812	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21318812G>A	uc021tss.1	+	2	528	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	KCNJ18_uc002gyv.1_Missense_Mutation_p.C53Y|KCNJ18_uc021tst.1_Missense_Mutation_p.C53Y	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	53						integral to membrane	inward rectifier potassium channel activity										AATGGCCAGTGCAACATTGAG	0.602000														149			9		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149514988	149514988	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149514988G>T	uc010lpk.3	+	80	11370	c.11370_splice	c.e80-1	p.C3790_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3793					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTTCCCCCAGCTCGTGTGCA	0.662000														85			24		4.26978e-12	4.90093e-12	1	1	0
EYA2	2139	broad.mit.edu	37	20	45801458	45801458	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45801458G>A	uc002xsm.3	+	11	1515	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	EYA2_uc010ghp.3_Missense_Mutation_p.A381T|EYA2_uc002xsq.3_Missense_Mutation_p.A351T	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	381				A -> S (in Ref. 7; AAB42065).	DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGGAAGCTGGCCTTCCGCTA	0.592000														198			46		0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881079	173881079	+	Missense_Mutation	SNP	C	T	T	rs121909563		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173881079C>T	uc001gjt.3	-	2	601	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	161			R -> Q (in AT3D; type-II; Geneva).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TCGATAGAGTCGGCAGTTCAG	0.398000														185			34		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95422292	95422292	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95422292A>T	uc001tdm.4	-	11	1658	c.1402T>A	c.(1402-1404)Tca>Aca	p.S468T	NR2C1_uc010suu.1_Intron	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	468					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						CTTTCTGTTGACATTTTATCT	0.303000														63			9		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37620829	37620829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37620829C>T	uc002yvg.3	+	20	5040	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M	DOPEY2_uc011aeb.2_Missense_Mutation_p.T1603M|DOPEY2_uc002yvh.3_Missense_Mutation_p.T505M	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1654					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTAGGGGCCACGAAGGGATCC	0.448000														73			24		0	0	1	0	0
GSTA5	221357	broad.mit.edu	37	6	52701122	52701122	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52701122C>T	uc003pba.1	-	3	254	c.184G>A	c.(184-186)Ggg>Agg	p.G62R		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	62	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	AGCTTCATCCCGTCAATCTCA	0.423000														216			42		0	0	1	0	0
OR10G3	26533	broad.mit.edu	37	14	22038099	22038099	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22038099G>A	uc010tmb.2	-	0	777	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		GCCTCAGGTAGATGAAGGCAC	0.582000														202			45		0	0	1	0	0
MS4A6E	245802	broad.mit.edu	37	11	60105331	60105331	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60105331G>A	uc001npd.3	+	1	279	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	89						integral to membrane	receptor activity	p.E89K(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TAAGTTGGACGAAAAGGATAT	0.453000														165			33		0	0	1	0	0
OXNAD1	92106	broad.mit.edu	37	3	16343174	16343174	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:16343174G>A	uc011awb.2	+	5	648	c.528G>A	c.(526-528)gaG>gaA	p.E176E	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Silent_p.E158E|OXNAD1_uc003cax.3_Silent_p.E158E	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	158	FAD-binding FR-type.						oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						TGGGTGGAGAGTTCTTCTTTG	0.483000														59			12		0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426155	132426155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132426155G>A	uc001ujf.3	+	4	1318	c.863G>A	c.(862-864)aGc>aAc	p.S288N	PUS1_uc001ujg.3_Missense_Mutation_p.S260N|PUS1_uc001ujh.3_Missense_Mutation_p.S260N|PUS1_uc001uji.3_Missense_Mutation_p.S235N	NM_025215	NP_001002020	Q9Y606	TRUA_HUMAN	Homo sapiens pseudouridylate synthase 1 (PUS1), transcript variant 1, mRNA.	288						mitochondrion	RNA binding|pseudouridine synthase activity|pseudouridylate synthase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		AAGGGCCAGAGCTTCATGATG	0.607000														253			62		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100821525	100821525	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100821525G>A	uc002bvv.1	-	3	777	c.698C>T	c.(697-699)aCg>aTg	p.T233M	ADAMTS17_uc002bvx.1_5'UTR	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	233	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCTCCACCGTGTGCTCGCT	0.627000														145			46		0	0	1	0	0
THAP4	51078	broad.mit.edu	37	2	242573285	242573285	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242573285C>T	uc002wbt.3	-	1	580	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	96							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GCGGCCATGGCCTCCAGCCCC	0.647000														285			101		0	0	1	0	0
DNAL4	10126	broad.mit.edu	37	22	39176946	39176946	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39176946G>T	uc003awj.3	-	2	366	c.138C>A	c.(136-138)ttC>ttA	p.F46L	SUN2_uc010gxr.2_Intron	NM_005740	NP_005731	O96015	DNAL4_HUMAN	Homo sapiens dynein, axonemal, light chain 4 (DNAL4), mRNA.	46					microtubule-based movement|nerve growth factor receptor signaling pathway	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|plasma membrane	ATPase activity, coupled|microtubule motor activity			lung(1)|skin(1)	2	Melanoma(58;0.04)					TGTTGTTGGAGAATTTCTCAC	0.557000														56			11		7.03913e-09	7.75971e-09	1	1	0
TRIP12	9320	broad.mit.edu	37	2	230636293	230636293	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230636293C>A	uc002vpx.1	-	38	5778	c.5669G>T	c.(5668-5670)aGa>aTa	p.R1890I	TRIP12_uc021vxw.1_Missense_Mutation_p.R1875I|TRIP12_uc002vpy.1_Missense_Mutation_p.R1572I|TRIP12_uc002vpw.1_Missense_Mutation_p.R1842I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1842	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAATCCATCTCTGAACGAATC	0.368000														77			20		1.9806e-07	2.14016e-07	1	1	0
STAB1	23166	broad.mit.edu	37	3	52539356	52539356	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52539356G>A	uc003dej.3	+	13	1614	c.1540G>A	c.(1540-1542)Gcc>Acc	p.A514T	STAB1_uc003dei.1_Missense_Mutation_p.A514T	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	514	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGATCCTCGCCTCTACCGA	0.622000														54			20		0	0	1	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134477178	134477178	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134477178C>A	uc003yuk.2	-	6	1355	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	ST3GAL1_uc003yum.2_Missense_Mutation_p.G176W	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	176					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCTTCAAACCCTGCCGTGGGC	0.577000														247			58		3.28156e-27	4.10917e-27	1	1	0
FNBP1L	54874	broad.mit.edu	37	1	93998513	93998513	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998513A>C	uc010otk.2	+	7	825	c.674A>C	c.(673-675)aAa>aCa	p.K225T	FNBP1L_uc001dpv.3_Missense_Mutation_p.K225T|FNBP1L_uc001dpw.3_Missense_Mutation_p.K225T	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	225	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGGACTATTAAACTCAGTGAG	0.323000														39			9		0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48286112	48286112	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:48286112G>A	uc010rht.2	+	0	700	c.700G>A	c.(700-702)Gcc>Acc	p.A234T		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GCAGCACAAGGCCCTCTCCAC	0.542000														146			31		0	0	1	0	0
LIMS2	55679	broad.mit.edu	37	2	128412001	128412001	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128412001C>T	uc002tpa.3	-	3	522	c.356G>A	c.(355-357)gGc>gAc	p.G119D	LIMS2_uc002tox.3_Missense_Mutation_p.G143D|LIMS2_uc010fmb.3_Missense_Mutation_p.G29D|LIMS2_uc002toy.3_Missense_Mutation_p.G114D|LIMS2_uc002toz.3_Missense_Mutation_p.G114D|LIMS2_uc010yzm.2_Missense_Mutation_p.G141D|LIMS2_uc002tpb.3_Missense_Mutation_p.G114D	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	119	LIM zinc-binding 2.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		ACCTCACCTGCCGGCATTCTT	0.632000														179			42		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118495213	118495213	+	Silent	SNP	G	A	A	rs139563237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118495213G>A	uc010oxe.1	+	18	2145	c.2079G>A	c.(2077-2079)tcG>tcA	p.S693S	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	693						nuclear membrane|nucleolus		p.S692L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTGTATCATCGTCCCATGACA	0.413000														126			35		0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211369	59211369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59211369C>T	uc001nnx.1	+	0	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCTGCAACACGTGTGCCTCG	0.547000														333			89		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206608031	206608031	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206608031C>T	uc002vaw.3	+	8	2187	c.1396C>T	c.(1396-1398)Cgc>Tgc	p.R466C	NRP2_uc002vat.3_Missense_Mutation_p.R466C|NRP2_uc002vau.3_Missense_Mutation_p.R466C|NRP2_uc002vav.3_Missense_Mutation_p.R466C|NRP2_uc002vax.3_Missense_Mutation_p.R466C|NRP2_uc002vay.3_Missense_Mutation_p.R466C|NRP2_uc010fud.3_Missense_Mutation_p.R466C	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	466	F5/8 type C 2.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CAGTGCAGCCCGCCTGGTTAG	0.617000														345			113		0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24642111	24642111	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24642111G>A	uc001wmr.3	+	3	556	c.129G>A	c.(127-129)gaG>gaA	p.E43E	REC8_uc001wms.3_Silent_p.E43E	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	43					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TCCCCAGCGAGGAAATCCTCA	0.647000														176			40		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1275821	1275821	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1275821C>T	uc001aer.4	-	5	715	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	DVL1_uc009vka.3_5'Flank|DVL1_uc002quu.3_5'Flank|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	223	Poly-Arg.				Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGCTTCCTCCGCCGGCGTTT	0.667000														49			5		0	0	1	0	0
ZNF385B	151126	broad.mit.edu	37	2	180307983	180307983	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180307983C>T	uc002unn.4	-	9	2014	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	ZNF385B_uc002unj.3_Silent_p.P368P|ZNF385B_uc002unl.3_Silent_p.P367P|ZNF385B_uc002unk.3_Non-coding_Transcript|ZNF385B_uc002unm.3_Silent_p.P394P	NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	470						nucleus	nucleic acid binding|zinc ion binding	p.P470P(2)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GACGTTAGTACGGAGCAAAGA	0.552000														77			24		0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932978	44932978	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44932978C>A	uc002oze.1	-	5	2412	c.1978G>T	c.(1978-1980)Gag>Tag	p.E660*	ZNF229_uc010ejk.1_Nonsense_Mutation_p.E314*|ZNF229_uc010ejl.1_Nonsense_Mutation_p.E654*	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	660					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTTCCGCACTCTTGGCATCTG	0.498000														247			16		1.3612e-06	1.45125e-06	1	1	0
PITPNB	23760	broad.mit.edu	37	22	28269748	28269748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28269748C>T	uc011akh.2	-	7	590	c.518G>A	c.(517-519)gGc>gAc	p.G173D	PITPNB_uc003adk.3_Missense_Mutation_p.G171D|PITPNB_uc003adl.3_Missense_Mutation_p.G171D	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	171					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TCCCAAAGGGCCTCTCTTGGT	0.488000														66			16		0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8702270	8702270	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8702270G>T	uc002glp.2	-	0	398	c.169C>A	c.(169-171)Cta>Ata	p.L57I		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	57						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GCAGCGATTAGGTGCTTGGTT	0.657000														143			31		8.4185e-14	9.84907e-14	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163693155	163693155	+	Missense_Mutation	SNP	C	T	T	rs138091231		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163693155C>T	uc002uch.2	-	1	428	c.199G>A	c.(199-201)Gac>Aac	p.D67N	KCNH7_uc002uci.3_Missense_Mutation_p.D67N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	67	PAS.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGGAGAAAGTCGCAGGTGCAT	0.507000														74			25		0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31905859	31905859	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31905859C>T	uc021okm.1	+	9	1359	c.1086C>T	c.(1084-1086)acC>acT	p.T362T	SERINC2_uc010ogg.2_Silent_p.T357T|SERINC2_uc001bst.3_Silent_p.T353T|SERINC2_uc001bsu.3_Silent_p.T298T|SERINC2_uc010ogh.2_Silent_p.T357T	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	353						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGATGCAGACCGAGGAGTGCC	0.612000														63			11		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312112	49312112	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49312112C>T	uc001rso.3	+	4	891	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	222										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGTAGAAGATCTGTGGAGAAA	0.433000														107			19		0	0	1	0	0
AQP3	360	broad.mit.edu	37	9	33447441	33447441	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33447441G>T	uc003zsx.3	-	0	191	c.88C>A	c.(88-90)Ctg>Atg	p.L30M	AQP3_uc010mju.3_Missense_Mutation_p.L30M|AQP3_uc003zsv.2_Missense_Mutation_p.L30M	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	30					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)		AGGGTCCCCAGGCACTCGGCC	0.677000														34			5		0.014758	0.0149061	1	1	0
CEP170P1	645455	broad.mit.edu	37	4	119472291	119472291	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119472291C>T	uc003icb.3	+	5	588	c.504C>T	c.(502-504)gcC>gcT	p.A168A						Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA.																		AATTAAGAGCCGAAAGTGAAG	0.274000														15			3		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965841	35965841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965841C>T	uc003jjv.2	-	3	683	c.490G>A	c.(490-492)Gcc>Acc	p.A164T	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.A164T|UGT3A1_uc011cor.2_Missense_Mutation_p.A130T|UGT3A1_uc003jjy.2_Missense_Mutation_p.A110T	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	164						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGAAGAATGGCCACAAATGGT	0.418000														77			8		0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56155447	56155447	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155447G>A	uc011kdb.1	-	2	301	c.106C>T	c.(106-108)Cga>Tga	p.R36*	PSPH_uc003trj.3_Intron|PHKG1_uc003trz.1_Nonsense_Mutation_p.R36*|PHKG1_uc011kdc.1_Nonsense_Mutation_p.R36*|PHKG1_uc011kdd.1_5'UTR	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	36	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGATGCATCGCCTGACCACA	0.657000														102			24		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74665359	74665359	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74665359G>A	uc001dge.2	+	1	161	c.94G>A	c.(94-96)Gca>Aca	p.A32T	LRRIQ3_uc001dfy.4_5'Flank|LRRIQ3_uc001dfz.4_5'Flank|FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.A32T|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.A32T|FPGT-TNNI3K_uc010oqu.2_Missense_Mutation_p.A32T|FPGT-TNNI3K_uc001dgb.2_Missense_Mutation_p.A32T|FPGT-TNNI3K_uc010oqt.2_Missense_Mutation_p.A32T	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	0						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAAACTTGTAGCACGTGGAGA	0.373000														70			21		0	0	1	0	0
KCTD19	146212	broad.mit.edu	37	16	67333397	67333397	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67333397C>T	uc002esu.2	-	5	906	c.855G>A	c.(853-855)ccG>ccA	p.P285P	KCTD19_uc002est.2_Silent_p.P57P|KCTD19_uc010vjj.1_Silent_p.P28P	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	285						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		TTGTGTAGAGCGGTTTCACGG	0.632000														305			50		0	0	1	0	0
MCM5	4174	broad.mit.edu	37	22	35808506	35808506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:35808506G>A	uc003anu.4	+	7	1017	c.923G>A	c.(922-924)cGc>cAc	p.R308H	MCM5_uc003anv.4_Missense_Mutation_p.R265H|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Missense_Mutation_p.R92H	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	308					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACCAAGGCCGCAGCTTTGCT	0.632000														245			64		0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27462673	27462673	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27462673C>T	uc003xfy.2	-	4	777	c.630G>A	c.(628-630)gaG>gaA	p.E210E	CLU_uc003xfw.2_Silent_p.E199E|CLU_uc003xfx.2_Silent_p.E199E|CLU_uc003xfz.2_Silent_p.E199E	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	199					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TATCCTGGGGCTCCCGGGTGA	0.607000														128			11		0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79094443	79094443	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79094443G>T	uc010dia.3	-	10	3373	c.3293C>A	c.(3292-3294)tCc>tAc	p.S1098Y	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.S995Y	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1098	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAAAAACTGGGAGCAGCTGGG	0.682000														27			9		0.00448238	0.00455828	1	1	0
NEDD8-MDP1	100528064	broad.mit.edu	37	14	24683543	24683543	+	Missense_Mutation	SNP	G	A	A	rs2295317	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24683543G>A	uc001wnl.2	-	4	491	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	TM9SF1_uc010tob.1_5'Flank|TM9SF1_uc010toc.2_5'Flank|TM9SF1_uc001wni.3_5'Flank|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc021rrl.1_Missense_Mutation_p.R126W|NEDD8-MDP1_uc001wnm.2_Intron|NEDD8-MDP1_uc021rrm.1_Missense_Mutation_p.R143W	NM_138476	NP_612485			Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.																		ACAATATTCCGCCTCTCATCA	0.458000														168			35		0	0	1	0	0
PDE4C	5143	broad.mit.edu	37	19	18332977	18332977	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18332977C>A	uc010xqc.2	-	1	879	c.399G>T	c.(397-399)aaG>aaT	p.K133N	PDE4C_uc002nik.4_Missense_Mutation_p.K133N|PDE4C_uc002nil.4_Missense_Mutation_p.K133N|PDE4C_uc002nig.4_5'Flank|PDE4C_uc002nih.4_5'Flank|PDE4C_uc010ebk.3_Missense_Mutation_p.K27N|PDE4C_uc002nii.4_Missense_Mutation_p.K101N|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_5'Flank|PDE4C_uc002nim.1_Missense_Mutation_p.K133N	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	133					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)	GAGACATGGCCTTGGGCGAGA	0.617000														91			20		1.33834e-09	1.48855e-09	1	1	0
GRM7	2917	broad.mit.edu	37	3	6903328	6903328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903328G>A	uc003bqm.2	+	0	527	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.A85T|GRM7_uc003bql.2_Missense_Mutation_p.A85T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	85					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GATGCTCTACGCCCTGGACCA	0.632000														49			5		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190464	32190464	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190464C>A	uc003obb.3	-	2	414	c.275G>T	c.(274-276)aGc>aTc	p.S92I	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.S92I	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	92	EGF-like 2.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGAGGGAGAGCTGGGGAGCCC	0.617000														165			45		6.21074e-16	7.38052e-16	1	1	0
METTL2A	339175	broad.mit.edu	37	17	60518112	60518112	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60518112A>G	uc002izv.2	+	5	822	c.804A>G	c.(802-804)ccA>ccG	p.P268P	METTL2A_uc002izw.3_Silent_p.P132P	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	268							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			CAATTGTTCCAGACAAGTAAG	0.433000														226			37		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45762366	45762366	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45762366C>T	uc002pbb.2	+	1	502	c.171C>T	c.(169-171)ggC>ggT	p.G57G	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Silent_p.G57G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	57					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCACGTGGGCAACTACCGCC	0.647000														84			11		0	0	1	0	0
ARHGAP10	79658	broad.mit.edu	37	4	148786101	148786101	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148786101G>A	uc003ilf.3	+	5	591	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	197	BAR.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTGAGTTTGTGGAACCTGTGA	0.373000														68			16		0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17945899	17945899	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17945899C>A	uc001ban.3	+	9	1060	c.901C>A	c.(901-903)Cca>Aca	p.P301T	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.P262T|ARHGEF10L_uc001bao.3_Missense_Mutation_p.P262T|ARHGEF10L_uc001bap.3_Missense_Mutation_p.P262T|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.P59T|ARHGEF10L_uc001baq.3_Missense_Mutation_p.P67T|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.P79T|ARHGEF10L_uc001bar.3_Missense_Mutation_p.P79T	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	301					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCCCCCAGCCCCAGAGCTGGG	0.662000														51			7		2.0095e-06	2.13635e-06	1	1	0
NEXN	91624	broad.mit.edu	37	1	78392549	78392549	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78392549G>A	uc001dic.4	+	7	1133	c.836G>A	c.(835-837)cGt>cAt	p.R279H	NEXN_uc001dia.3_Missense_Mutation_p.R265H|NEXN_uc009wcb.1_Missense_Mutation_p.R201H|NEXN_uc001dib.4_Missense_Mutation_p.R215H|NEXN_uc001did.1_Missense_Mutation_p.R189H|NEXN_uc001dif.1_Missense_Mutation_p.R171H	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	279	Glu-rich.		R -> C (in CMH20; the mutant protein accumulates in the cytoplasm but binding to ACTA1 is not altered).		regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GAAGAGAAGCGTGCTTTTGAA	0.348000														87			7		0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152992061	152992061	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152992061T>G	uc002tyc.4	-	7	1111	c.761A>C	c.(760-762)aAt>aCt	p.N254T	STAM2_uc010foa.1_Missense_Mutation_p.N254T|STAM2_uc002tyd.3_Missense_Mutation_p.N254T	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	254	SH3.			N -> D (in Ref. 2; CAB63735).	cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TGTTACAAAATTGGATGGGAA	0.303000														100			33		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110509151	110509151	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509151A>C	uc003yne.3	+	63	10435	c.10331A>C	c.(10330-10332)cAg>cCg	p.Q3444P		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3444					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.P3444P(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCCAAGGCCAGTTTAATCCT	0.353000										HNSCC(38;0.096)				105			17		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889760	40889760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889760C>T	uc002onp.3	-	1	1037	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	251	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GTGGGGGTTGCGCTTGAAGAA	0.617000														156			32		0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59283900	59283900	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:59283900G>A	uc001sqr.3	-	4	783	c.537C>T	c.(535-537)gtC>gtT	p.V179V	LRIG3_uc009zqh.3_Silent_p.V119V|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	179						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCATTGATGTGACTCGGTTGC	0.413000			T	ROS1	NSCLC									202			50		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150485713	150485713	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150485713A>C	uc001euv.3	+	10	1673	c.1474_splice	c.e10-1	p.K492_splice	ECM1_uc001eus.3_Splice_Site_p.K465_splice|ECM1_uc001eut.3_Splice_Site_p.K340_splice|ECM1_uc009wlu.3_Splice_Site_p.K225_splice	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	465					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CATTCATCAGAAATTAACCTT	0.493000														131			45		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432123	4432123	+	Missense_Mutation	SNP	G	A	A	rs45499793	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432123G>A	uc002mal.3	+	11	2222	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	708	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGCAGTTCGCAGCCTGCTT	0.657000								Chromatin Structure						135			20		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877453	10877453	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877453G>A	uc003mzn.4	-	1	335	c.263C>T	c.(262-264)aCa>aTa	p.T88I	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	88					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GCAGGCCTGTGTACACACCAC	0.632000														168			39		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61768711	61768711	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61768711G>T	uc003xue.3	+	32	7606	c.7114G>T	c.(7114-7116)Gcc>Tcc	p.A2372S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2372					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)			GGTCGGCCAAGCCAGCATTAG	0.512000														26			5		0.0215528	0.0217347	1	1	0
WDR34	89891	broad.mit.edu	37	9	131397074	131397074	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131397074C>T	uc004bvq.1	-	6	1232	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T		NM_052844	NP_443076	Q96EX3	WDR34_HUMAN	Homo sapiens WD repeat domain 34 (WDR34), mRNA.	370						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCGTGAGGGCTGCCTCTCCA	0.652000														67			6		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31851172	31851172	+	Silent	SNP	G	A	A	rs148424397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31851172G>A	uc003nxz.1	-	22	2971	c.2961C>T	c.(2959-2961)tgC>tgT	p.C987C	EHMT2_uc003nxx.1_Silent_p.C185C|EHMT2_uc003nxy.1_Silent_p.C785C|EHMT2_uc011don.1_Silent_p.C1010C|EHMT2_uc003nya.1_Silent_p.C953C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	987	Pre-SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TGAGCTGGCCGCACAGGCAGT	0.632000														62			6		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127970908	127970908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127970908G>A	uc003vmp.2	-	9	1208	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	RBM28_uc011koj.1_Missense_Mutation_p.R224C|RBM28_uc011kok.1_Missense_Mutation_p.R312C	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	365	RRM 3.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAGACAATGCGGACATATTTG	0.468000														111			22		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152528985	152528985	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152528985G>A	uc021vrb.1	-	34	4226	c.4197C>T	c.(4195-4197)gtC>gtT	p.V1399V	NEB_uc002txu.3_Silent_p.V1399V|NEB_uc021vrc.1_Silent_p.V1399V|NEB_uc010fnx.3_Silent_p.V1399V|NEB_uc021vrd.1_Silent_p.V1399V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1399					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTGGTAGCGACATCCTGGG	0.458000														117			30		0	0	1	0	0
RCBTB1	55213	broad.mit.edu	37	13	50125569	50125569	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50125569T>C	uc001vde.1	-	7	1008	c.747A>G	c.(745-747)acA>acG	p.T249T		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	249					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)		AGCCCTCATCTGTTAGTGCTA	0.473000														103			26		0	0	1	0	0
OR2W3	343171	broad.mit.edu	37	1	248059435	248059435	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059435G>A	uc010pzb.2	+	0	547	c.547G>A	c.(547-549)Gcc>Acc	p.A183T	OR2W3_uc001idp.1_Missense_Mutation_p.A183T	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A183S(2)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGAGATGCCCGCCCTGATCCG	0.637000														251			48		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519452	113519452	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519452C>T	uc010ljy.1	-	3	1726	c.1695G>A	c.(1693-1695)ctG>ctA	p.L565L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	565					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTTCGCTCAGCAGAGTAGCCA	0.458000														151			22		0	0	1	0	0
LEMD1	93273	broad.mit.edu	37	1	205350901	205350901	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205350901A>G	uc001hcj.2	-	5	566	c.431T>C	c.(430-432)aTc>aCc	p.I144T	LEMD1_uc001hcl.2_Missense_Mutation_p.I103T|LEMD1_uc001hci.2_Missense_Mutation_p.S97P|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.S56P|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron	NM_001199050	NP_001185979	Q68G75	LEMD1_HUMAN	Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA.	144						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			CCAGCTCTCGATAGTCTGGTC	0.478000														301			30		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084963	31084963	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084963G>A	uc003nsm.2	-	1	485	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	143	Ser-rich.		Missing (in allele 2.11).|N -> S (in dbSNP:rs3130984).		cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GAGAGCCGCTGTTTCCCGAGT	0.592000														94			12		0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99909097	99909097	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909097G>T	uc010yvo.2	-	4	380	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Missense_Mutation_p.S17Y	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	17					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GCTGCTTTCAGACAAGTCTAC	0.423000														101			21		3.51602e-12	4.04451e-12	1	1	0
NOTCH3	4854	broad.mit.edu	37	19	15276713	15276713	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15276713C>T	uc002nan.3	-	29	5628	c.5552G>A	c.(5551-5553)cGt>cAt	p.R1851H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1851					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCATCAGCACGGGCATAACG	0.642000														75			10		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744219	70744219	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744219C>T	uc003xyl.3	-	1	1397	c.690G>A	c.(688-690)tcG>tcA	p.S230S	SLCO5A1_uc010lzb.3_Silent_p.S230S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.S230S|SLCO5A1_uc010lzc.2_Silent_p.S230S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	230						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CGTTGGGGGCCGAGGCGTTCA	0.632000														127			22		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39905984	39905984	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39905984C>A	uc010xuz.2	+	3	709	c.384C>A	c.(382-384)taC>taA	p.Y128*	PLEKHG2_uc010xuy.2_Nonsense_Mutation_p.Y69*|PLEKHG2_uc002olj.3_Nonsense_Mutation_p.Y128*|PLEKHG2_uc010xva.2_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	128	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AACAGGACTACCTGGGCCCTC	0.642000														56			7		0.0381472	0.038366	1	1	0
GOLPH3L	55204	broad.mit.edu	37	1	150620874	150620874	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150620874C>T	uc001evj.2	-	4	998	c.781G>A	c.(781-783)Gac>Aac	p.D261N	GOLPH3L_uc010pci.1_Missense_Mutation_p.D217N	NM_018178	NP_060648	Q9H4A5	GLP3L_HUMAN	Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA.	261						Golgi cisterna membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTCAGGGTCCAGTTCTACT	0.488000														133			38		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45781209	45781209	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45781209A>C	uc002pbb.2	+	8	1146	c.815A>C	c.(814-816)aAg>aCg	p.K272T	MARK4_uc002paz.2_Intron|MARK4_uc002pba.2_Missense_Mutation_p.K272T|MARK4_uc002pbc.1_Missense_Mutation_p.K138T	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	272	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCAGAGGGAAGTACCGGGTC	0.577000														110			17		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29118725	29118725	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29118725C>T	uc002kwu.4	+	11	1851	c.1663C>T	c.(1663-1665)Ctg>Ttg	p.L555L		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	555					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TACCAGTGTGCTGCTGCAACA	0.413000														110			22		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671274	144671274	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671274C>T	uc003yyq.2	-	0	1357	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	EEF1D_uc003yyp.2_Silent_p.E326E|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Silent_p.E326E|EEF1D_uc003yyr.3_Silent_p.E326E|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGTGGCGGCACTCGGCGCTGT	0.692000														47			14		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86259508	86259508	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86259508G>A	uc003pkr.3	-	7	917	c.724C>T	c.(724-726)Cac>Tac	p.H242Y	SNX14_uc003pkp.3_Missense_Mutation_p.H105Y|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.H190Y|SNX14_uc003pks.3_Missense_Mutation_p.H198Y|SNX14_uc003pkt.3_Missense_Mutation_p.H242Y	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	242	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CTTAAATAGTGCAATTCATCT	0.333000														68			13		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136594308	136594308	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136594308G>A	uc002tuu.1	-	0	443	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	144	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CAAAGGCTTCGGTTCTCCGGA	0.597000														87			35		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762927	92762927	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92762927G>T	uc003umh.1	-	4	3574	c.2358C>A	c.(2356-2358)acC>acA	p.T786T	SAMD9L_uc003umj.1_Silent_p.T786T|SAMD9L_uc003umi.1_Silent_p.T786T|SAMD9L_uc010lfb.1_Silent_p.T786T|SAMD9L_uc003umk.1_Silent_p.T786T|SAMD9L_uc010lfc.1_Silent_p.T786T|SAMD9L_uc010lfd.1_Silent_p.T786T|SAMD9L_uc022ahh.1_Silent_p.T786T	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	786										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTGCCCTATAGGTGACCAGAT	0.378000														184			34		4.3181e-19	5.2379e-19	1	1	0
ECE1	1889	broad.mit.edu	37	1	21585263	21585263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21585263C>T	uc001bek.2	-	5	760	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	ECE1_uc001bem.2_Missense_Mutation_p.A213T|ECE1_uc001bej.2_Missense_Mutation_p.A217T|ECE1_uc001bei.2_Missense_Mutation_p.A226T|ECE1_uc010odl.1_Missense_Mutation_p.A229T|ECE1_uc009vqa.1_Missense_Mutation_p.A229T	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	229					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTAGTGGGCGGTGACCACC	0.597000														104			11		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189241	131189241	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131189241T>C	uc003vqw.4	-	8	1764	c.1506A>G	c.(1504-1506)acA>acG	p.T502T	PODXL_uc003vqx.4_Silent_p.T470T	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	502					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					CATTCTCCACTGTCTGCAGCT	0.557000														176			37		0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137088	64137088	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64137088G>A	uc001oae.3	+	12	1682	c.1599G>A	c.(1597-1599)ccG>ccA	p.P533P	RPS6KA4_uc001oad.3_Silent_p.P527P|RPS6KA4_uc010rnl.2_Silent_p.P470P|RPS6KA4_uc001oaf.3_Silent_p.P526P|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	533	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACCTCAAGCCGGAGGTGGGCG	0.711000														52			13		0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101190358	101190358	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101190358T>C	uc001dti.3	+	3	1061	c.840T>C	c.(838-840)gcT>gcC	p.A280A	VCAM1_uc010ouj.2_Silent_p.A218A|VCAM1_uc001dtj.3_Silent_p.A280A	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	280	Ig-like C2-type 3.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	CCTTAATTGCTATGAGGATGG	0.393000														75			10		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73205355	73205355	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73205355C>T	uc003hgk.2	-	4	754	c.717G>A	c.(715-717)caG>caA	p.Q239Q		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	239					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATTCAGCTGCTGGTGGATGT	0.478000														300			57		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102509502	102509502	+	Splice_Site	SNP	G	A	A	rs74550754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509502G>A	uc001krk.4	+	2	594	c.44_splice	c.e2-1	p.P15_splice	PAX2_uc001krm.4_Splice_Site_p.P15_splice|PAX2_uc001krn.4_Splice_Site_p.P15_splice|PAX2_uc001kro.4_Splice_Site_p.P15_splice|PAX2_uc010qps.2_Intron|PAX2_uc001krl.4_Splice_Site_p.P15_splice|PAX2_uc001krp.1_Missense_Mutation_p.A19T	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	15				PG -> R (in Ref. 6; AAC41711).	anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TCTCTCCCCAGCAGGGCACGG	0.672000														134			25		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64641903	64641903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64641903C>T	uc010rnq.1	-	2	581	c.534G>A	c.(532-534)cgG>cgA	p.R178R	EHD1_uc001obu.1_Silent_p.R164R|EHD1_uc001obv.1_Silent_p.R164R	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	164					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CTCTGCTGATCCGCTGCTTCT	0.557000														16			4		0	0	1	0	0
TTPAL	79183	broad.mit.edu	37	20	43117903	43117903	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43117903G>A	uc002xmc.1	+	6	875	c.751_splice	c.e6-1	p.F251_splice	TTPAL_uc002xmd.1_Splice_Site_p.F251_splice|TTPAL_uc010ggr.1_Splice_Site_p.F64_splice	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	251	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						TTCCCTTTTAGTTCTTCCTCC	0.463000														97			12		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015230	135015230	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135015230C>A	uc001llz.1	+	16	3216	c.3215C>A	c.(3214-3216)tCc>tAc	p.S1072Y	KNDC1_uc001lma.1_Missense_Mutation_p.S1007Y|KNDC1_uc001lmb.1_Missense_Mutation_p.S484Y	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1072				S -> P (in Ref. 1; BAD12625).	regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CTGGCCAGGTCCAAAGGGGTC	0.701000														60			16		2.32078e-09	2.57599e-09	1	1	0
EMR2	30817	broad.mit.edu	37	19	14877892	14877892	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14877892G>T	uc002mzp.1	-	5	841	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.L129I|EMR2_uc002mzo.1_Missense_Mutation_p.L129I|EMR2_uc002mzq.1_Missense_Mutation_p.L129I|EMR2_uc002mzr.1_Missense_Mutation_p.L129I|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	129	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CTTTTACAGAGCCTTGGGTTC	0.587000														234			11		4.68919e-08	5.11014e-08	1	1	0
SLC4A5	57835	broad.mit.edu	37	2	74491387	74491387	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74491387C>T	uc002sko.1	-	4	604	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.R201Q|SLC4A5_uc010ffc.1_Missense_Mutation_p.R201Q|SLC4A5_uc002skp.1_Missense_Mutation_p.R137Q|SLC4A5_uc002sks.1_Missense_Mutation_p.R201Q	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	201						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAGCTCTGGCCGCAGGAGACC	0.547000														93			19		0	0	1	0	0
FAM64A	54478	broad.mit.edu	37	17	6348719	6348719	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6348719T>C	uc002gcw.2	+	1	398	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	FAM64A_uc002gcu.2_Missense_Mutation_p.S97P	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	97						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		GGGTGCCGTGTCCCAGGTAAT	0.547000														115			32		0	0	1	0	0
RABGAP1	23637	broad.mit.edu	37	9	125746835	125746835	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125746835C>T	uc011lzh.2	+	2	356	c.222C>T	c.(220-222)gaC>gaT	p.D74D	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.D74D	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	74					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTCCAATGGACGACCAGCCAG	0.478000														89			13		0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49034600	49034600	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:49034600G>A	uc003gyv.3	+	11	1708	c.1526G>A	c.(1525-1527)aGa>aAa	p.R509K	CWH43_uc011bzl.2_Missense_Mutation_p.R482K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	509					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTTTGTCAAGATACCCAATT	0.458000														346			61		0	0	1	0	0
ILVBL	10994	broad.mit.edu	37	19	15226130	15226130	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15226130C>A	uc002nam.3	-	15	1953	c.1832G>T	c.(1831-1833)gGc>gTc	p.G611V		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	611						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AACCGGGTGGCCGTCTCGGCA	0.637000														197			44		6.45866e-13	7.49009e-13	1	1	0
VPS13D	55187	broad.mit.edu	37	1	12368618	12368618	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368618C>A	uc001atv.3	+	26	6711	c.6570C>A	c.(6568-6570)tcC>tcA	p.S2190S	VPS13D_uc001atw.3_Silent_p.S2190S|VPS13D_uc001atx.3_Silent_p.S1378S|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2190					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTTCCCTTCCTATTTTGTGC	0.458000														241			30		1.06801e-11	1.22009e-11	1	1	0
PUM2	23369	broad.mit.edu	37	2	20511261	20511261	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:20511261T>G	uc002rds.1	-	3	530	c.512A>C	c.(511-513)gAt>gCt	p.D171A	PUM2_uc002rdt.1_Missense_Mutation_p.D171A|PUM2_uc002rdr.2_Missense_Mutation_p.D110A|PUM2_uc010yjy.1_Missense_Mutation_p.D171A|PUM2_uc002rdu.1_Missense_Mutation_p.D171A|PUM2_uc010yjz.1_Missense_Mutation_p.D110A	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	171	Interaction with SNAPIN.				regulation of translation	perinuclear region of cytoplasm|stress granule	RNA binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTAAAATCTTTGCAATC	0.323000														52			6		0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	962266	962266	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:962266C>T	uc003gbw.3	-	4	611	c.537_splice	c.e4+1	p.H179_splice	DGKQ_uc010ibn.3_Splice_Site_p.H179_splice	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	179					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGTACACTCACGTGATCCTGG	0.701000														21			8		0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32099638	32099638	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32099638C>A	uc001ivz.1	-	15	2259	c.1989G>T	c.(1987-1989)caG>caT	p.Q663H	ARHGAP12_uc001ivy.1_Missense_Mutation_p.Q609H|ARHGAP12_uc009xls.2_Missense_Mutation_p.Q614H|ARHGAP12_uc001iwb.1_Missense_Mutation_p.Q656H|ARHGAP12_uc001iwc.1_Missense_Mutation_p.Q631H|ARHGAP12_uc009xlq.1_Missense_Mutation_p.Q584H|ARHGAP12_uc001ivw.1_5'Flank|ARHGAP12_uc001ivx.1_5'Flank	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	663	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CATTCTCTCTCTGACACAGAT	0.323000														89			9		1.12685e-05	1.18529e-05	1	1	0
BUD13	84811	broad.mit.edu	37	11	116627904	116627904	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116627904C>A	uc001ppn.3	-	8	1758	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	BUD13_uc001ppo.3_Missense_Mutation_p.R441I	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	575										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		GATATTAAATCTGTTGGGAGG	0.443000														63			9		0.0581538	0.0584306	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	108725	108725	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:108725C>T	uc002cfl.4	-	17	2325	c.2182G>A	c.(2182-2184)Gcc>Acc	p.A728T		NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	728					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AAGAGGCAGGCCAGGATGCCG	0.647000														68			9		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33612912	33612912	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33612912G>A	uc021qfs.1	+	10	3929	c.3805G>A	c.(3805-3807)Gtc>Atc	p.V1269I	C11orf41_uc001mun.1_Intron	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1269						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GGAAAGAGACGTCGCTCAGGA	0.557000														120			19		0	0	1	0	0
ATP6AP1	537	broad.mit.edu	37	X	153663798	153663798	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153663798C>A	uc004flf.1	+	8	1211	c.1150C>A	c.(1150-1152)Ctc>Atc	p.L384I	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.L344I|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	384					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GGGTAGTCTCCTCGTGGCCCG	0.622000														98			31		1.06801e-11	1.22009e-11	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121785597	121785597	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121785597G>A	uc003ksw.1	+	8	1856	c.1650G>A	c.(1648-1650)caG>caA	p.Q550Q	SNCAIP_uc011cwl.1_Silent_p.Q108Q|SNCAIP_uc003ksy.1_Silent_p.Q184Q|SNCAIP_uc003ksx.1_Silent_p.Q597Q|SNCAIP_uc003ksz.1_Silent_p.Q184Q|SNCAIP_uc010jcu.2_Silent_p.Q146Q|SNCAIP_uc011cwm.1_Silent_p.Q184Q|SNCAIP_uc003kta.1_Silent_p.Q182Q|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Silent_p.Q244Q|SNCAIP_uc010jcx.1_Silent_p.Q490Q|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Silent_p.Q66Q	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	550					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TAGAAGCCCAGAAATCAGAGG	0.428000														135			34		0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	99064225	99064225	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99064225T>C	uc003htt.2	-	0	167	c.77A>G	c.(76-78)tAc>tGc	p.Y26C		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	26										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AGGTACCTGGTAGGATCCAGG	0.592000											OREG0016268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			8		0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333654	41333654	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41333654G>A	uc004dfh.2	+	1	1378	c.948G>A	c.(946-948)gtG>gtA	p.V316V	NYX_uc011mku.1_Silent_p.V316V	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	Homo sapiens nyctalopin (NYX), mRNA.	316					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GCCTCACCGTGCTCGCCTGGG	0.667000														131			49		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31080049	31080049	+	Silent	SNP	G	A	A	rs145694102		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31080049G>A	uc003nsk.1	-	1	87	c.87C>T	c.(85-87)atC>atT	p.I29I	PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank	NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	29										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CCACAACACCGATGCTCCGGG	0.557000														141			33		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421825	8421825	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8421825G>A	uc001ape.3	-	17	2824	c.2014C>T	c.(2014-2016)Cag>Tag	p.Q672*	RERE_uc001apf.3_Nonsense_Mutation_p.Q672*|RERE_uc010nzx.1_Nonsense_Mutation_p.Q404*|RERE_uc001apd.3_Nonsense_Mutation_p.Q118*	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	672					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACCTCACCTGCGTTTTTGTC	0.562000														96			29		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805024	54805024	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54805024C>T	uc003pck.3	+	4	1371	c.1255C>T	c.(1255-1257)Cca>Tca	p.P419S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	419										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGGAAAAAGCCATCTGATAG	0.488000														142			9		0	0	1	0	0
GPRC5B	51704	broad.mit.edu	37	16	19883350	19883350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883350G>A	uc010vav.2	-	1	1127	c.896C>T	c.(895-897)gCc>gTc	p.A299V	GPRC5B_uc021tef.1_Missense_Mutation_p.A265V|GPRC5B_uc002dgt.3_Missense_Mutation_p.A273V	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	273										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGTGATGGCCAAGGTGGG	0.622000														101			31		0	0	1	0	0
LDHB	3945	broad.mit.edu	37	12	21795006	21795006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21795006C>T	uc001rfd.3	-	4	808	c.475G>A	c.(475-477)Gtg>Atg	p.V159M	LDHB_uc001rfe.3_Missense_Mutation_p.V159M	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	159					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	CTTCCAATCACGCGGTGTTTG	0.398000														107			24		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89402178	89402178	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89402178G>T	uc010upo.1	+	11	6736	c.6362G>T	c.(6361-6363)aGa>aTa	p.R2121I	ACAN_uc010upp.1_Missense_Mutation_p.R2121I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2121					cell adhesion		hyaluronic acid binding|sugar binding	p.L2120P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGGCCAGCAGAGAAGATTCT	0.562000														155			22		2.39556e-15	2.83283e-15	1	1	0
GRK6	2870	broad.mit.edu	37	5	176859018	176859018	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176859018C>T	uc021yit.1	+	2	331	c.171C>T	c.(169-171)tgC>tgT	p.C57C	GRK6_uc003mgq.2_Silent_p.C57C|GRK6_uc021yiu.1_Silent_p.C57C|GRK6_uc003mgs.1_Silent_p.C27C	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	57	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.L56L(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCCTGTGCGAGCGGCAGC	0.657000														317			98		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152084576	152084576	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152084576G>A	uc009wne.1	-	2	1389	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	TCHH_uc001ezp.2_Missense_Mutation_p.R373C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	373	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tgctgctcgcgcctctcctcc	0.721000														115			16		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28514426	28514426	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28514426C>T	uc001zbj.3	-	10	1520	c.1414G>A	c.(1414-1416)Gtg>Atg	p.V472M	HERC2_uc001zbl.1_Missense_Mutation_p.V167M	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	472					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R471C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTGTGTACACGCGGCCATTG	0.557000														49			6		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89400831	89400831	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400831C>A	uc010upo.1	+	11	5389	c.5015C>A	c.(5014-5016)gCc>gAc	p.A1672D	ACAN_uc010upp.1_Missense_Mutation_p.A1672D|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1672					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGTCACAGCCTCCACTGCA	0.537000														214			37		2.04263e-09	2.27038e-09	1	1	0
TAS2R10	50839	broad.mit.edu	37	12	10978550	10978550	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10978550A>C	uc001qyy.1	-	0	319	c.319T>G	c.(319-321)Ttc>Gtc	p.F107V		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	107					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATCTTCAGGAAATAGAAGATG	0.343000														63			10		0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209969826	209969826	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209969826C>G	uc001hhq.2	-	3	550	c.246G>C	c.(244-246)caG>caC	p.Q82H	IRF6_uc010psm.2_5'UTR	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	82			Q -> K (in PPS).		cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CACAGCGCAGCTGGGCCTTCC	0.512000										HNSCC(57;0.16)				90			23		0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105670293	105670293	+	Missense_Mutation	SNP	C	A	A	rs147663272		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105670293C>A	uc001kxl.3	-	1	296	c.221G>T	c.(220-222)aGt>aTt	p.S74I	OBFC1_uc001kxm.3_Missense_Mutation_p.S74I	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	74					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACCTCCATAACTGTAGAAAGC	0.393000														42			10		0.0809354	0.0812943	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698100	17698100	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17698100C>T	uc002rcl.1	-	0	1607	c.1583G>A	c.(1582-1584)aGt>aAt	p.S528N	RAD51AP2_uc010exn.1_Missense_Mutation_p.S519N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	528										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGTTAAAATACTATTATCTTT	0.239000														18			3		0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577398	104577398	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:104577398C>A	uc003hxe.1	-	2	982	c.841G>T	c.(841-843)Gga>Tga	p.G281*		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	281						integral to plasma membrane	tachykinin receptor activity			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)		CAGGTATCTCCTGGGATTTCT	0.403000														107			23		3.83957e-06	4.06525e-06	1	1	0
PHLDB1	23187	broad.mit.edu	37	11	118521155	118521155	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118521155C>A	uc001ptr.2	+	20	4130	c.3777C>A	c.(3775-3777)tgC>tgA	p.C1259*	PHLDB1_uc001pts.3_Nonsense_Mutation_p.C1259*|PHLDB1_uc001ptt.3_Nonsense_Mutation_p.C1212*|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Nonsense_Mutation_p.C1074*|PHLDB1_uc001ptw.2_Nonsense_Mutation_p.C614*|PHLDB1_uc009zai.2_Nonsense_Mutation_p.C295*|PHLDB1_uc001ptx.2_Nonsense_Mutation_p.C295*	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1259	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ACCAGGTCTGCCGTGGCTACT	0.522000														151			14		3.27435e-08	3.57295e-08	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17496471	17496471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17496471G>A	uc001mnc.3	-	1	378	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ABCC8_uc010rcy.1_Silent_p.V84V|ABCC8_uc021qej.1_Intron	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	84					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACACCAGGACGAAGAGCA	0.557000														97			18		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311809	48311809	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48311809A>C	uc003toq.2	+	16	2570	c.2546A>C	c.(2545-2547)aAa>aCa	p.K849T	ABCA13_uc010kyr.2_Missense_Mutation_p.K352T|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	849					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAAAGAGCTAAATTGGAAAAC	0.299000														52			13		0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39538384	39538384	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39538384C>T	uc002hwm.3	-	0	253	c.241G>A	c.(241-243)Gcc>Acc	p.A81T		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	81	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCACATTGGCGGGGATGTTG	0.652000														263			57		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232062	71232062	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232062T>C	uc002jjm.4	+	2	635	c.441T>C	c.(439-441)tcT>tcC	p.S147S	C17orf80_uc010wqu.1_Silent_p.S147S|C17orf80_uc010dfj.3_Silent_p.S147S|C17orf80_uc002jjk.1_Silent_p.S147S|C17orf80_uc002jjl.4_Silent_p.S147S	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	147						integral to membrane		p.S147C(1)		kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			AGAAAACCTCTCCTAAAAGAG	0.388000														112			21		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20948936	20948936	+	Missense_Mutation	SNP	G	A	A	rs140129150		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20948936G>A	uc009yid.3	+	8	1079	c.926G>A	c.(925-927)cGa>cAa	p.R309Q	NELL1_uc010rdp.2_Missense_Mutation_p.R41Q|NELL1_uc001mqe.3_Missense_Mutation_p.R281Q|NELL1_uc001mqf.3_Missense_Mutation_p.R281Q|NELL1_uc010rdo.2_Missense_Mutation_p.R224Q	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	281	VWFC 1.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CTGCTCTATCGAGATCAAGAC	0.393000														70			11		0	0	1	0	0
LYPD4	147719	broad.mit.edu	37	19	42342046	42342046	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42342046A>T	uc002orp.1	-	3	1485	c.501T>A	c.(499-501)gcT>gcA	p.A167A	LYPD4_uc002orq.1_Silent_p.A132A	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	167	UPAR/Ly6.					anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AACACGTAGAAGCAGCCAAGG	0.488000														73			6		0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17748709	17748709	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17748709C>A	uc001bal.3	-	4	783	c.734G>T	c.(733-735)aGc>aTc	p.S245I	RCC2_uc001bam.3_Missense_Mutation_p.S245I	NM_001136204	NP_061185	Q9P258	RCC2_HUMAN	Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA.	245					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CTGCGCGGGGCTGGGAACAGC	0.512000														202			21		9.57634e-11	1.08211e-10	1	1	0
MAST4	375449	broad.mit.edu	37	5	66448536	66448536	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66448536C>T	uc021xzk.1	+	24	3675	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	MAST4_uc003jut.2_Nonsense_Mutation_p.R934*|MAST4_uc003juw.3_Nonsense_Mutation_p.R862*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1126	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCTTCTTCACGAGATTCCTC	0.522000														264			54		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9172287	9172287	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9172287C>A	uc001mhl.3	-	13	2803	c.2546G>T	c.(2545-2547)aGg>aTg	p.R849M	DENND5A_uc001mhk.3_Missense_Mutation_p.R192M|DENND5A_uc010rbw.2_Missense_Mutation_p.R849M|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	849	RUN 1.							p.R848C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATCAGACTTCCTACGTTCTGA	0.433000														76			11		4.68919e-08	5.11014e-08	1	1	0
C19orf44	84167	broad.mit.edu	37	19	16617541	16617541	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16617541G>A	uc002neh.1	+	3	1178	c.1105G>A	c.(1105-1107)Ggt>Agt	p.G369S	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.G369S|C19orf44_uc002neg.3_Missense_Mutation_p.G369S|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	369										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ATCGCTTGACGGTCTGGCTCC	0.323000														35			7		0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7868079	7868079	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7868079G>A	uc003jeb.3	-	1	290	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	FASTKD3_uc011cmp.2_5'UTR|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	40					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCACAGACGCTCCTTGACT	0.408000														131			14		0	0	1	0	0
SPHK1	8877	broad.mit.edu	37	17	74383248	74383248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74383248C>T	uc002jrj.2	+	5	1491	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SPHK1_uc002jrf.1_Missense_Mutation_p.P246S|SPHK1_uc002jrg.1_Missense_Mutation_p.P195S|SPHK1_uc002jrh.2_Missense_Mutation_p.P260S|SPHK1_uc002jri.2_Missense_Mutation_p.P246S|SPHK1_uc002jrk.3_Missense_Mutation_p.P246S	NM_182965	NP_001136074	Q9NYA1	SPHK1_HUMAN	Homo sapiens sphingosine kinase 1 (SPHK1), transcript variant 2, mRNA.	246					'de novo' posttranslational protein folding|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|calcium-mediated signaling|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of angiogenesis|positive regulation of cell growth|positive regulation of cell migration|positive regulation of fibroblast proliferation|positive regulation of mitotic cell cycle|positive regulation of protein ubiquitination|positive regulation of smooth muscle contraction|regulation of tumor necrosis factor-mediated signaling pathway|sphingoid catabolic process|sphingosine metabolic process	cytosol|membrane fraction|nucleus|plasma membrane|soluble fraction	ATP binding|D-erythro-sphingosine kinase activity|DNA binding|calmodulin binding|diacylglycerol kinase activity|magnesium ion binding|protein phosphatase 2A binding|sphinganine kinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11						GGAGCCAGTGCCCTCTCACTG	0.627000														65			9		0	0	1	0	0
WNT10A	80326	broad.mit.edu	37	2	219757865	219757865	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219757865T>C	uc002vjd.1	+	3	1589	c.1126T>C	c.(1126-1128)Tgc>Cgc	p.C376R		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	376					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGCAGCATGTGCTGCGGCCG	0.701000														65			6		0	0	1	0	0
DUS1L	64118	broad.mit.edu	37	17	80019817	80019817	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80019817G>T	uc002kdq.3	-	4	972	c.553C>A	c.(553-555)Ctg>Atg	p.L185M	DUS1L_uc002kdp.3_Missense_Mutation_p.L54M|DUS1L_uc002kdr.3_Missense_Mutation_p.L185M|DUS1L_uc010wvi.1_Missense_Mutation_p.L168M	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	185					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GCACCCGACAGGGGCCCCTTC	0.657000														244			35		9.8876e-21	1.20929e-20	1	1	0
ANKS3	124401	broad.mit.edu	37	16	4764060	4764060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4764060C>T	uc002cxj.2	-	6	996	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	ANKS3_uc002cxi.2_Missense_Mutation_p.R161Q|ANKS3_uc021tcj.1_Missense_Mutation_p.R105Q|ANKS3_uc021tck.1_Missense_Mutation_p.R127Q|ANKS3_uc002cxk.3_Missense_Mutation_p.R105Q|ANKS3_uc010uxs.2_Missense_Mutation_p.R161Q|ANKS3_uc002cxm.3_Missense_Mutation_p.R28Q	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	234										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCTGGGCTCCGATAGAGGCT	0.617000														109			31		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18028909	18028909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18028909C>T	uc010gqw.1	+	15	3860	c.3860C>T	c.(3859-3861)tCg>tTg	p.S1287L	CECR2_uc010gqv.1_Missense_Mutation_p.S1147L|CECR2_uc002zml.2_Missense_Mutation_p.S1148L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1331					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CGGCAGAGCTCGTTGTCAGCC	0.512000														202			46		0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75969039	75969039	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75969039C>T	uc002baw.3	-	9	5914	c.5821G>A	c.(5821-5823)Gcc>Acc	p.A1941T		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1941	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACCTCGATGGCGGATGGTAGG	0.662000														166			33		0	0	1	0	0
PICK1	9463	broad.mit.edu	37	22	38470346	38470346	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38470346C>T	uc003auq.3	+	11	1257	c.867C>T	c.(865-867)acC>acT	p.T289T	PICK1_uc003aur.3_Silent_p.T289T|PICK1_uc003aus.3_Silent_p.T289T|PICK1_uc003aut.3_Silent_p.T289T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	289	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GGGTGAGCACCGGCAACTATG	0.672000											OREG0026555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			28		0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70926319	70926319	+	Silent	SNP	C	T	T	rs142273524	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70926319C>T	uc021rvq.1	+	0	2103	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_uc001xmd.3_Silent_p.V701V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	701					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)		TGTTTACTGTCGGGCTTCTTA	0.413000														99			29		0	0	1	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43531235	43531235	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43531235G>A	uc002ija.3	-	6	2153	c.1983C>T	c.(1981-1983)ctC>ctT	p.L661L	PLEKHM1_uc010wjm.2_Silent_p.L633L|PLEKHM1_uc002ijb.3_Silent_p.L136L|PLEKHM1_uc010wjn.1_Silent_p.L610L|PLEKHM1_uc002ijc.3_Silent_p.L115L	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	661					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CGGGCTCCGAGAGCAGGTCTG	0.647000														183			31		0	0	1	0	0
GPAT2	150763	broad.mit.edu	37	2	96688928	96688928	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96688928C>T	uc002svf.3	-	18	2298	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	GPAT2_uc002sve.3_Missense_Mutation_p.R494H|GPAT2_uc002svd.3_Missense_Mutation_p.R511H|GPAT2_uc002svg.3_Missense_Mutation_p.R571H|GPAT2_uc010yuh.2_Missense_Mutation_p.R621H|GPAT2_uc002svh.3_Intron	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	692					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity	p.R692C(3)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						GCTGAGCAGGCGGCAGAGGAA	0.652000														39			5		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6652301	6652301	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6652301G>T	uc001mem.1	-	8	4314	c.3913C>A	c.(3913-3915)Ctc>Atc	p.L1305I		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1305	Cadherin 12.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S1304S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCAGCTGGAGGCTGGCACTT	0.617000														64			9		9.70103e-10	1.08264e-09	1	1	0
GBP4	115361	broad.mit.edu	37	1	89652754	89652754	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89652754G>A	uc001dnb.3	-	8	1558	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	481						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		AACCACCTGTGACTGCAGGAA	0.517000														110			12		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82319707	82319707	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82319707G>T	uc004ald.3	+	8	1447	c.598G>T	c.(598-600)Gta>Tta	p.V200L	TLE4_uc004alc.3_Missense_Mutation_p.V207L|TLE4_uc010mpr.3_Missense_Mutation_p.V86L|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Missense_Mutation_p.V175L|TLE4_uc010mps.3_Missense_Mutation_p.V200L|TLE4_uc004alf.3_Missense_Mutation_p.V146L	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGCTCTTCAGTATCCCCATC	0.413000														241			56		1.61742e-36	2.05144e-36	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40154517	40154517	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40154517G>T	uc003guy.4	+	16	5599	c.5261G>T	c.(5260-5262)aGc>aTc	p.S1754I	N4BP2_uc010ifq.3_Missense_Mutation_p.S1674I|N4BP2_uc010ifr.3_Missense_Mutation_p.S1657I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1754	Smr.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGCCATAGCTTCAGGTGA	0.408000														74			16		9.16793e-09	1.00855e-08	1	1	0
NRD1	4898	broad.mit.edu	37	1	52299774	52299774	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52299774C>A	uc001ctc.4	-	5	1307	c.985G>T	c.(985-987)Ggt>Tgt	p.G329C	NRD1_uc009vzb.3_Missense_Mutation_p.G24C|NRD1_uc001cte.3_Missense_Mutation_p.G197C|NRD1_uc001ctd.4_Missense_Mutation_p.G261C|NRD1_uc001ctf.2_Missense_Mutation_p.G261C|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.G129C	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	260					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTATCACTACCCCCATGCTTC	0.403000														146			30		2.65835e-16	3.16856e-16	1	1	0
ZNF876P	642280	broad.mit.edu	37	4	248507	248507	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:248507C>T	uc010iba.3	+	1		c.1341C>T								Homo sapiens zinc finger protein 876, pseudogene (ZNF876P), non-coding RNA.																		TTTAGATGGTCCAGAAGCCTG	0.388000														17			5		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117609778	117609778	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117609778C>A	uc003pxp.1	-	42	7120	c.6921G>T	c.(6919-6921)aaG>aaT	p.K2307N	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2307					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CATGTGGTTCCTTCTCTTCTT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									71			23		2.89027e-11	3.28353e-11	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235359344	235359344	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359344A>G	uc021pks.1	-	18	2303	c.1926_splice	c.e18+1	p.K642_splice	ARID4B_uc001hwq.3_Splice_Site_p.K642_splice|ARID4B_uc001hwr.3_Splice_Site_p.K556_splice|ARID4B_uc001hws.4_Splice_Site_p.K556_splice|RBM34_uc001hwp.3_5'Flank|ARID4B_uc001hwt.4_Splice_Site_p.K323_splice	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	642					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACAAGCACTTACCTTTATTTT	0.294000														68			13		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61305075	61305075	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61305075C>T	uc002ljf.3	-	7	1137	c.1051G>A	c.(1051-1053)Gta>Ata	p.V351I	SERPINB3_uc002lje.3_Missense_Mutation_p.V330I|SERPINB3_uc002ljg.3_Missense_Mutation_p.V351I	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	351			G -> A (in dbSNP:rs3180227).		regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AATTCGACTACTACTACAGCG	0.463000														160			34		0	0	1	0	0
TOMM34	10953	broad.mit.edu	37	20	43577463	43577463	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43577463C>A	uc002xmy.3	-	4	746	c.606G>T	c.(604-606)gaG>gaT	p.E202D	PABPC1L_uc002xmx.3_Intron	NM_006809	NP_006800	Q15785	TOM34_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 34 (TOMM34), nuclear gene encoding mitochondrial protein, mRNA.	202					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TCTTTACAAGCTCATTGCCTT	0.453000														86			18		5.01169e-05	5.22235e-05	1	1	0
RNASET2	8635	broad.mit.edu	37	6	167344532	167344532	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:167344532C>A	uc003qve.3	-	8	974	c.567_splice	c.e8+1	p.Q189_splice	RNASET2_uc003qvf.3_Splice_Site_p.Q97_splice	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	189					RNA catabolic process	extracellular region	RNA binding|ribonuclease T2 activity			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		ACTGTCTAACCTGGCTTGGTG	0.418000														173			28		7.38237e-10	8.2451e-10	1	1	0
AP3M1	26985	broad.mit.edu	37	10	75893913	75893913	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75893913T>C	uc001jwf.3	-	3	885	c.455A>G	c.(454-456)aAt>aGt	p.N152S	AP3M1_uc001jwg.3_Missense_Mutation_p.N152S|AP3M1_uc001jwh.3_Missense_Mutation_p.N152S|AP3M1_uc010qla.2_Missense_Mutation_p.N98S	NM_207012	NP_996895	Q9Y2T2	AP3M1_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 1 subunit (AP3M1), transcript variant 1, mRNA.	152					protein targeting to lysosome|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					GTCCCCAACATTACTACTGCC	0.418000														95			29		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48342621	48342621	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48342621G>T	uc002phq.4	+	3	501	c.297G>T	c.(295-297)caG>caT	p.Q99H		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	99					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		agcagcgacagcagcagaaac	0.642000														356			99		6.79372e-55	8.6755e-55	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43973084	43973084	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43973084G>A	uc010yny.2	+	23	3718	c.3635G>A	c.(3634-3636)cGt>cAt	p.R1212H		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1212	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGACTGTTCGTCTGACATAC	0.373000														49			13		0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	93518645	93518645	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:93518645A>T	uc010tif.2	+	7	2038	c.1672A>T	c.(1672-1674)Aca>Tca	p.T558S		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	558						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGAATCTATGACATTCACTCT	0.428000														167			18		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20683249	20683249	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20683249T>C	uc010kuh.3	+	6	909	c.672T>C	c.(670-672)tgT>tgC	p.C224C		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	410			K -> R (in dbSNP:rs13222448).		regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CGGCAGCATGTTCTAGGGTAA	0.443000														62			7		0	0	1	0	0
CCND2	894	broad.mit.edu	37	12	4385201	4385201	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4385201G>A	uc001qmo.3	+	1	531	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	76	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			CGAAGAAGAGGTCTTCCCTCT	0.547000			T	IGL@	"""NHL,CLL"""									132			27		0	0	1	0	0
TTC38	55020	broad.mit.edu	37	22	46685356	46685356	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46685356C>T	uc003bhi.3	+	11	1216	c.1140C>T	c.(1138-1140)tgC>tgT	p.C380C	TTC38_uc011aqx.2_Silent_p.C322C	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	Homo sapiens tetratricopeptide repeat domain 38 (TTC38), mRNA.	380							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						TGCCCCTGTGCCAGGCCCTGG	0.687000														126			18		0	0	1	0	0
IQCJ-SCHIP1	100505385	broad.mit.edu	37	3	158970563	158970563	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:158970563T>C	uc003fcq.2	+	2	303	c.122T>C	c.(121-123)cTc>cCc	p.L41P	IQCJ-SCHIP1_uc003fcr.2_Intron|IQCJ-SCHIP1_uc003fco.3_Missense_Mutation_p.L41P|IQCJ-SCHIP1_uc003fcp.2_Missense_Mutation_p.L41P|IQCJ-SCHIP1_uc010hvy.2_Intron	NM_001197113	NP_001184042	Q9P0W5	SCHI1_HUMAN	Homo sapiens IQCJ-SCHIP1 readthrough (IQCJ-SCHIP1), transcript variant 1, mRNA.	0	Ser-rich.					cytoplasm	identical protein binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7)	12						AAGTATCCCCTCAATCTACAG	0.338000														36			8		0	0	1	0	0
IFNA10	3446	broad.mit.edu	37	9	21206625	21206625	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21206625T>C	uc003zoq.1	-	0	518	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	158					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		GGGCTGTATTTCCTCTCTATT	0.443000														484			17		0	0	1	0	0
PKN1	5585	broad.mit.edu	37	19	14554324	14554324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14554324C>T	uc002myp.3	+	2	533	c.365C>T	c.(364-366)gCc>gTc	p.A122V	PKN1_uc002myq.3_Missense_Mutation_p.A128V	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	122					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACCTGCTCGGCCACCAACCTG	0.662000														42			8		0	0	1	0	0
KCNG3	170850	broad.mit.edu	37	2	42720563	42720563	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720563G>T	uc002rsn.3	-	0	675	c.79C>A	c.(79-81)Ctg>Atg	p.L27M	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Missense_Mutation_p.L27M	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	27						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						AAGTCCTTCAGCAGCTCCCGG	0.726000														17			7		8.12818e-05	8.44191e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62291895	62291895	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291895G>T	uc001ntl.3	-	4	10294	c.9994C>A	c.(9994-9996)Cca>Aca	p.P3332T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3332					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACTTCTGGGCCCTTTATA	0.418000														74			21		4.35082e-09	4.81328e-09	1	1	0
ZBTB34	403341	broad.mit.edu	37	9	129642452	129642452	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129642452C>T	uc022bnn.1	+	0	762	c.762C>T	c.(760-762)gaC>gaT	p.D254D	ZBTB34_uc004bqm.4_Silent_p.D254D	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D258D(1)		endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						CCCTGGGTGACGATGGGTACC	0.557000														202			34		0	0	1	0	0
PRRT2	112476	broad.mit.edu	37	16	29824802	29824802	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29824802G>T	uc002dud.2	+	1	728	c.427G>T	c.(427-429)Gac>Tac	p.D143Y	BOLA2_uc010bzb.1_Intron|AK097472_uc002duc.1_5'Flank|PRRT2_uc002due.4_Missense_Mutation_p.D143Y|PRRT2_uc002duf.1_Missense_Mutation_p.D143Y|C16orf53_uc002dug.4_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	Homo sapiens proline-rich transmembrane protein 2 (PRRT2), transcript variant 1, mRNA.	143	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCCCCAACCAGACCCCCGGCC	0.632000														103			32		2.85442e-18	3.44571e-18	1	1	0
BAD	572	broad.mit.edu	37	11	64051656	64051656	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64051656C>T	uc001nzd.3	-	1	267	c.185G>A	c.(184-186)gGa>gAa	p.G62E	BAD_uc001nzc.3_Missense_Mutation_p.G62E|BAD_uc009ypk.2_Missense_Mutation_p.G62E|GPR137_uc010rni.2_5'Flank|GPR137_uc010rnj.2_5'Flank|GPR137_uc001nze.2_5'Flank|GPR137_uc001nzf.3_5'Flank|GPR137_uc001nzh.2_5'Flank|GPR137_uc001nzi.3_5'Flank|GPR137_uc021qkt.1_5'Flank	NM_032989	NP_116784	Q92934	BAD_HUMAN	Homo sapiens BCL2-associated agonist of cell death (BAD), transcript variant 2, mRNA.	62					ADP metabolic process|ATP metabolic process|activation of pro-apoptotic gene products|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GTACTTACCTCCATGATGGCT	0.652000														124			31		0	0	1	0	0
RHBDL3	162494	broad.mit.edu	37	17	30643294	30643294	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30643294C>A	uc010csx.1	+	6	839	c.825C>A	c.(823-825)ggC>ggA	p.G275G	RHBDL3_uc002hhe.1_Missense_Mutation_p.A309D|RHBDL3_uc010csw.1_Missense_Mutation_p.A301D|RHBDL3_uc010csy.1_Missense_Mutation_p.A211D|RHBDL3_uc002hhf.1_Missense_Mutation_p.A211D			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	0					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGCGGATGGCTGTGGCCCTT	0.552000														288			71		2.40655e-23	2.97901e-23	1	1	0
FAT4	79633	broad.mit.edu	37	4	126371043	126371043	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126371043C>T	uc003ifj.4	+	8	8872	c.8872C>T	c.(8872-8874)Cga>Tga	p.R2958*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R1256*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R436*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2958	Cadherin 28.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D2957E(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATCTTCAGATCGAGGTAAACC	0.333000														66			17		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118469685	118469685	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118469685G>T	uc010jcl.1	+	11	2247	c.2066G>T	c.(2065-2067)aGc>aTc	p.S689I	DMXL1_uc003ksd.2_Missense_Mutation_p.S689I|DMXL1_uc021ycw.1_Missense_Mutation_p.S516I|DMXL1_uc003ksc.1_Missense_Mutation_p.S689I	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	689										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAAAATAAAAGCACTGTTGAC	0.423000														153			9		0.0581538	0.0584306	1	1	0
PTCHD1	139411	broad.mit.edu	37	X	23398084	23398084	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23398084C>A	uc004dal.4	+	1	736	c.728C>A	c.(727-729)tCc>tAc	p.S243Y	PTCHD1_uc010nfu.2_Missense_Mutation_p.S243Y	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	243					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						TTTCAGAAATCCAACAGCAAA	0.507000														347			86		2.05912e-35	2.60849e-35	1	1	0
RAI14	26064	broad.mit.edu	37	5	34803869	34803869	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34803869G>T	uc003jis.3	+	6	857	c.318G>T	c.(316-318)agG>agT	p.R106S	RAI14_uc003jir.3_Missense_Mutation_p.R103S|RAI14_uc010iur.3_Missense_Mutation_p.R103S|RAI14_uc011coj.2_Missense_Mutation_p.R103S|RAI14_uc010ius.1_Missense_Mutation_p.R32S|RAI14_uc003jit.3_Missense_Mutation_p.R103S|RAI14_uc011cok.2_Missense_Mutation_p.R95S	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	103						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AATGCATCAGGAAGCTGCTTC	0.368000														23			7		0.000274275	0.000282808	1	1	0
LTBP4	8425	broad.mit.edu	37	19	41119858	41119858	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41119858G>A	uc002ooh.1	+	20	2795	c.2795G>A	c.(2794-2796)aGc>aAc	p.S932N	LTBP4_uc002oog.1_Missense_Mutation_p.S895N|LTBP4_uc002ooi.1_Missense_Mutation_p.S865N|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Missense_Mutation_p.S152N|LTBP4_uc002ool.1_Missense_Mutation_p.S30N|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'Flank	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	932	Cys-rich.|EGF-like 11; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTTGCCAGAGCGGCATCTGT	0.682000														86			28		0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16810905	16810905	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16810905C>T	uc001ays.2	-	5		c.562G>A			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		AGGAGTCATCCGCGGTGCGCT	0.721000														19			3		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655499	46655499	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655499G>A	uc003bhh.3	-	0	3721	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1241	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GACCCCCAACGACTTCCTGTA	0.448000														155			37		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124281736	124281736	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124281736C>T	uc003ehg.3	+	33	5103	c.4976C>T	c.(4975-4977)gCg>gTg	p.A1659V	KALRN_uc003ehi.3_Missense_Mutation_p.A32V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1659	SH3 1.				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	p.F1659L(1)		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						GACTTCAGTGCGGGCCACAGC	0.637000														59			21		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101921318	101921318	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101921318G>A	uc003uyt.3	+	17	1789	c.1662G>A	c.(1660-1662)ctG>ctA	p.L554L	CUX1_uc003uyw.3_Silent_p.L508L|CUX1_uc003uyv.3_Silent_p.L538L|CUX1_uc003uyu.3_Silent_p.L552L|CUX1_uc011kkn.2_Silent_p.L515L	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	361					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TCAAGTTCCTGCAGAGCTACC	0.652000														42			8		0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893032	44893032	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893032C>A	uc003beu.1	-	1	742	c.405G>T	c.(403-405)gaG>gaT	p.E135D	LDOC1L_uc021wrd.1_Missense_Mutation_p.E135D	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	135										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		AGGCCACACGCTCGGCCTCAC	0.627000														86			19		3.62473e-10	4.06567e-10	1	1	0
KREMEN1	83999	broad.mit.edu	37	22	29533635	29533635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29533635G>A	uc011akm.1	+	5	990	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	KREMEN1_uc003ael.3_Missense_Mutation_p.A313T|KREMEN1_uc011akn.2_Missense_Mutation_p.A196T	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	Homo sapiens kringle containing transmembrane protein 1 (KREMEN1), transcript variant 2, mRNA.	311	CUB.				Wnt receptor signaling pathway|cell communication|regulation of canonical Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CATCAATCAGGCCCAGGGATT	0.532000														67			13		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90411377	90411377	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90411377G>T	uc003pnn.1	-	54	8443	c.8327C>A	c.(8326-8328)aCt>aAt	p.T2776N		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2776					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTGAGACAGTCTGAACTTC	0.423000														83			10		2.17888e-05	2.28139e-05	1	1	0
LOC389765	389765	broad.mit.edu	37	9	88444499	88444499	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88444499C>T	uc004aog.2	+	3		c.840C>T								Homo sapiens kinesin family member 27 pseudogene (LOC389765), non-coding RNA.																		TTGAAAGAAGCGCAAAAAGTG	0.363000														110			12		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35381663	35381663	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35381663T>C	uc003zwr.3	+	18	2647	c.2355T>C	c.(2353-2355)atT>atC	p.I785I	UNC13B_uc003zwq.3_Silent_p.I785I	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	785					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAAGAAATTGTGGATGAAT	0.517000														254			52		0	0	1	0	0
PTOV1	53635	broad.mit.edu	37	19	50358292	50358292	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50358292C>T	uc002pqf.1	+	4	686	c.516C>T	c.(514-516)tgC>tgT	p.C172C	PTOV1_uc010ybf.2_Silent_p.C140C|PTOV1_uc002pqb.4_Silent_p.C140C|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		ACAGAGACTGCGACTCGCTCA	0.637000														20			4		0	0	1	0	0
CCL24	6369	broad.mit.edu	37	7	75441154	75441154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75441154C>T	uc011kga.2	-	2	379	c.320G>A	c.(319-321)gGc>gAc	p.G107D		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	107					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTGGACAGGGCCCTTGACAGC	0.627000														105			15		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8131635	8131635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8131635G>A	uc002gkq.4	-	22	3576	c.3517C>T	c.(3517-3519)Cct>Tct	p.P1173S	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	1173					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGCCGAGGAGGTTCTGAGGTG	0.532000														165			38		0	0	1	0	0
TAS2R40	259286	broad.mit.edu	37	7	142920107	142920107	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142920107C>T	uc011ksx.2	+	0	936	c.936C>T	c.(934-936)caC>caT	p.H312H		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	312					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.Q311K(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					GGTTTCAGCACCAAGTTCCTC	0.537000														109			29		0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100190416	100190416	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100190416A>G	uc011kjz.1	+	4	751	c.683A>G	c.(682-684)gAc>gGc	p.D228G	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.D176G|FBXO24_uc003uvm.1_Missense_Mutation_p.D190G|FBXO24_uc003uvn.1_5'UTR|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.D178G	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	190						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TTTGCCTCGGACCCAAGGTGT	0.577000														58			9		0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392209	78392209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78392209G>A	uc001xui.3	+	8	1210	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Missense_Mutation_p.G303R|ADCK1_uc001xul.3_Missense_Mutation_p.G78R	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	378	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity	p.R371H(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		ACTGGGAGCCGGGGATCTCTA	0.582000														296			66		0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209045	3209045	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3209045C>A	uc010zqe.2	-	18	2672	c.2547G>T	c.(2545-2547)cgG>cgT	p.R849R	SLC4A11_uc002wig.3_Silent_p.R822R|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.R806R	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	822	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGGGCACCCTCCGGATGTAGT	0.657000														237			43		4.0492e-12	4.65414e-12	1	1	0
FBLN2	2199	broad.mit.edu	37	3	13660486	13660486	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13660486G>A	uc011avc.2	+	6	2404	c.2022G>A	c.(2020-2022)ccG>ccA	p.P674P	FBLN2_uc011auz.2_Silent_p.P700P|FBLN2_uc011avb.2_Silent_p.P674P|FBLN2_uc011ava.2_Silent_p.P674P	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	674						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACACCATCCCGCTGCCACTGC	0.622000														35			4		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52918959	52918959	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52918959C>T	uc002pzh.3	+	6	1280	c.854C>T	c.(853-855)gCa>gTa	p.A285V	ZNF528_uc002pzi.3_Missense_Mutation_p.A52V	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TCAAAGCTTGCACAACATCAA	0.368000														123			25		0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44612103	44612103	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44612103A>C	uc002oyh.2	+	5	2107	c.1790A>C	c.(1789-1791)aAa>aCa	p.K597T	LOC100379224_uc002oyi.3_Non-coding_Transcript	NM_013398	NP_037530	Q9NZL3	ZN224_HUMAN	Homo sapiens zinc finger protein 224 (ZNF224), mRNA.	597					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				AAGCCATACAAATGTGATGAG	0.463000														116			21		0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026007	129026007	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:129026007G>A	uc002tpt.4	-	1	999	c.965C>T	c.(964-966)aCg>aTg	p.T322M		NM_004807	NP_004798	O60243	H6ST1_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 1 (HS6ST1), mRNA.	322					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity			endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		GCCCGCCCGCGTGCTATTGTA	0.602000														102			32		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140603489	140603489	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140603489A>C	uc003ljb.3	+	0	412	c.412A>C	c.(412-414)Ata>Cta	p.I138L		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	138	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGACAAGGAAATACTTATTAA	0.393000														174			40		0	0	1	0	0
AIFM1	9131	broad.mit.edu	37	X	129263959	129263959	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129263959G>A	uc004evg.3	-	14	1987	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	AIFM1_uc011mur.2_Missense_Mutation_p.P234S|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.P582S|AIFM1_uc004evi.3_Missense_Mutation_p.P299S|AIFM1_uc004evk.3_Missense_Mutation_p.P234S	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	586					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CTTGCTATTGGCATTCGGTTA	0.507000														216			65		0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66255388	66255388	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66255388C>A	uc001oig.1	+	5	639	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	DPP3_uc001oif.1_Missense_Mutation_p.L193I|DPP3_uc010rpe.1_Missense_Mutation_p.L182I	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	193					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTTCTAGAACCTCAGTGCCTA	0.562000														100			25		2.44723e-14	2.87423e-14	1	1	0
ASIC5	51802	broad.mit.edu	37	4	156759990	156759990	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156759990G>T	uc003ipe.1	-	6	1088	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	347						integral to membrane|plasma membrane											CACAGCTGAAGTACTTTTGTA	0.269000														22			4		1.024e-07	1.11136e-07	1	1	0
KIAA1383	54627	broad.mit.edu	37	1	232940995	232940995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232940995C>T	uc001hvh.2	+	0	358	c.226C>T	c.(226-228)Cac>Tac	p.H76Y		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	0										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AAAAACGGCTCACAAGTATGC	0.458000														188			35		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40271425	40271425	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40271425C>A	uc002hyx.2	-	5	971	c.911G>T	c.(910-912)aGc>aTc	p.S304I		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	304					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCTATCACAGCTCTGGGGCAC	0.607000														220			42		4.14481e-20	5.0508e-20	1	1	0
TMCC3	57458	broad.mit.edu	37	12	94976125	94976125	+	Missense_Mutation	SNP	C	T	T	rs141857063	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976125C>T	uc001tdj.2	-	1	386	c.268G>A	c.(268-270)Gat>Aat	p.D90N	TMCC3_uc001tdi.2_Missense_Mutation_p.D59N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	90						integral to membrane		p.D90Y(2)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACATTCCCATCGCGCGATGTT	0.453000														209			40		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3977529	3977529	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3977529C>T	uc002lze.3	-	12	2230	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	716						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCCCTCCGCGGTGGATGGC	0.672000														38			8		0	0	1	0	0
CEBPZ	10153	broad.mit.edu	37	2	37454709	37454709	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454709G>A	uc002rpz.3	-	1	1657	c.1627C>T	c.(1627-1629)Cga>Tga	p.R543*		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	543					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GTGTAATATCGATCCGATATT	0.378000														128			42		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112646316	112646316	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112646316G>A	uc021reb.1	-	50	7980	c.7584C>T	c.(7582-7584)gaC>gaT	p.D2528D	C12orf51_uc001ttr.1_Silent_p.D415D	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGtcatcatcgtcatcatcat	0.502000														101			12		0	0	1	0	0
ZNF528	84436	broad.mit.edu	37	19	52919388	52919388	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52919388G>A	uc002pzh.3	+	6	1709	c.1283G>A	c.(1282-1284)cGa>cAa	p.R428Q	ZNF528_uc002pzi.3_Missense_Mutation_p.R195Q	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATACGACATCGAAAAACTCAT	0.398000														90			16		0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897380	51897380	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51897380C>T	uc003dbt.1	+	2	527	c.489C>T	c.(487-489)aaC>aaT	p.N163N	IQCF1_uc003dbq.4_Intron|IQCF2_uc003dbu.1_Non-coding_Transcript	NM_203424	NP_982248	Q8IXL9	IQCF2_HUMAN	Homo sapiens IQ motif containing F2 (IQCF2), mRNA.	163										endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGATCATCAACTCCTAAGGGC	0.552000														187			47		0	0	1	0	0
ACADL	33	broad.mit.edu	37	2	211074960	211074960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211074960G>A	uc002vdz.4	-	4	791	c.563C>T	c.(562-564)gCt>gTt	p.A188V		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	188					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		ATCCTTTTTAGCATTTGTTTT	0.303000														142			49		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31008947	31008947	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31008947C>A	uc003aip.2	+	2	594	c.345C>A	c.(343-345)aaC>aaA	p.N115K	TCN2_uc003air.2_Splice_Site_p.W116_splice	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	115					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGAGCCAACTGTGAGTTTG	0.597000														104			28		7.41945e-09	8.17068e-09	1	1	0
FAM123B	139285	broad.mit.edu	37	X	63413144	63413144	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:63413144G>A	uc022byb.1	-	0	23	c.23C>T	c.(22-24)gCt>gTt	p.A8V	FAM123B_uc004dvo.3_Missense_Mutation_p.A8V	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	8					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						GGCCTGAGCAGCTTCATCCTT	0.532000														181			9		0	0	1	0	0
PPAT	5471	broad.mit.edu	37	4	57269561	57269561	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57269561G>A	uc003hbr.3	-	3	568	c.409C>T	c.(409-411)Cgt>Tgt	p.R137C		NM_002703	NP_002694	Q06203	PUR1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate amidotransferase (PPAT), mRNA.	137	Glutamine amidotransferase type-2.				glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ATACCATGACGCAGAAGCTAT	0.448000														66			8		0	0	1	0	0
REXO1L1	254958	broad.mit.edu	37	8	86567318	86567318	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86567318G>A	uc003ydl.1	-	0	588	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	524						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						GCATGTCGGCGTCCACCACGG	0.587000														139			11		0	0	1	0	0
NUDT14	256281	broad.mit.edu	37	14	105643299	105643299	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105643299C>T	uc010tyn.2	-	3	304	c.190_splice	c.e3+1	p.A64_splice	NUDT14_uc001yqi.3_Splice_Site	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	64	Nudix hydrolase.					cytoplasm	UDP-sugar diphosphatase activity|metal ion binding|protein binding			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCTGGCCTCACCTGGCCGGAA	0.612000										HNSCC(42;0.11)				41			6		0	0	1	0	0
WDR52	55779	broad.mit.edu	37	3	113115561	113115561	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113115561C>T	uc003ead.2	-	13	1650	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	WDR52_uc003eae.2_Missense_Mutation_p.G528E	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	528										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AATTTGTGCTCCAGTGAAGTT	0.338000														57			11		0	0	1	0	0
LOC644189	644189	broad.mit.edu	37	19	36913695	36913695	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36913695T>G	uc002odz.1	+	0		c.1620T>G								Homo sapiens acyl-CoA thioesterase 4 pseudogene (LOC644189), non-coding RNA.																		TGTAATGCGTTTGTCTGTTGT	0.433000														77			12		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237886522	237886522	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237886522G>T	uc001hyl.1	+	73	10769	c.10649G>T	c.(10648-10650)aGa>aTa	p.R3550I	RYR2_uc010pxz.1_Missense_Mutation_p.R505I|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3550					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGTAGAAAGAGTATTGGAT	0.383000														112			25		3.28513e-13	3.82035e-13	1	1	0
MCM8	84515	broad.mit.edu	37	20	5933149	5933149	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5933149A>C	uc002wmk.3	+	2	605	c.228A>C	c.(226-228)aaA>aaC	p.K76N	TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmi.3_Missense_Mutation_p.K76N|MCM8_uc002wmj.3_Missense_Mutation_p.K76N|MCM8_uc002wml.3_Missense_Mutation_p.K76N|MCM8_uc010gbp.3_Missense_Mutation_p.K76N	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	76					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	p.K76Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TACCATATAAAGGCTGGAAGC	0.338000														124			28		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420278	56420278	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420278G>T	uc002rzn.3	+	1	1445	c.943G>T	c.(943-945)Gaa>Taa	p.E315*	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	315	His-rich.							p.P314P(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGAGCCCGGAACACTTCCA	0.642000														266			23		2.21704e-12	2.55528e-12	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766263	57766263	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766263C>T	uc002yan.3	+	0	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	63	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCCACTGTACCACACGGTGC	0.697000														73			16		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85696964	85696964	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85696964G>A	uc002fix.3	+	10	2462	c.2388G>A	c.(2386-2388)ttG>ttA	p.L796L	KIAA0182_uc002fiw.3_Silent_p.L692L|KIAA0182_uc002fiy.3_Silent_p.L723L|KIAA0182_uc002fiz.3_5'UTR|KIAA0182_uc010cho.3_5'UTR	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	796							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						TAGAGTTTTTGCAACTTTTTG	0.562000														364			76		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153697552	153697552	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153697552G>A	uc004flm.3	+	25	4761	c.4588G>A	c.(4588-4590)Gac>Aac	p.D1530N		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1530					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGAGGACATGGACCTGGGTGA	0.602000														98			26		0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119216795	119216795	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119216795G>A	uc010rzg.1	-	2	392	c.232C>T	c.(232-234)Ctc>Ttc	p.L78F	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	78					embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGCAGCAGGAGGAGCAGGCTG	0.627000														50			7		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119133927	119133927	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119133927G>T	uc003ecj.4	+	11	3683	c.3151G>T	c.(3151-3153)Ggg>Tgg	p.G1051W		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	1051					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GACACACCTGGGGCACAGCAG	0.602000														300			37		5.8336e-16	6.9331e-16	1	1	0
IP6K1	9807	broad.mit.edu	37	3	49764895	49764895	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49764895C>T	uc021wyl.1	-	5	1639	c.986G>A	c.(985-987)cGc>cAc	p.R329H	IP6K1_uc003cxm.1_Missense_Mutation_p.R329H|IP6K1_uc003cxn.1_Missense_Mutation_p.R164H	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	329					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GGAGTAGAAGCGGTAAGAGGC	0.592000														119			20		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653832	46653832	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46653832T>G	uc003bhh.3	-	0	5388	c.5388A>C	c.(5386-5388)caA>caC	p.Q1796H		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1796					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGCTCTCACTTGCCTCATCA	0.418000														310			32		0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003516	119003516	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003516G>A	uc001ldd.2	+	2	319	c.156G>A	c.(154-156)aaG>aaA	p.K52K	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	52					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACAGCATTAAGCATGAGAAGA	0.488000														48			11		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112440429	112440429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112440429G>A	uc003pvu.2	-	33	5060	c.4751C>T	c.(4750-4752)gCt>gTt	p.A1584V	LAMA4_uc003pvv.2_Missense_Mutation_p.A1577V|LAMA4_uc003pvt.2_Missense_Mutation_p.A1577V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1584	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCCAGGTAGCTTCAGTAGG	0.473000														131			37		0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140270770	140270770	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140270770T>C	uc004fbj.3	-	0	541	c.437A>G	c.(436-438)tAt>tGt	p.Y146C		NM_012317	NP_036449	O95751	LDOC1_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1 (LDOC1), mRNA.	146					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					GAGGGCCTAATAATCATCCTC	0.647000														50			12		0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660200	77660200	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77660200C>T	uc011cbx.2	+	4	1827	c.874C>T	c.(874-876)Cga>Tga	p.R292*	SHROOM3_uc011cbz.1_Nonsense_Mutation_p.R116*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.R167*|SHROOM3_uc003hkg.3_Nonsense_Mutation_p.R70*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	292					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TACTTCTGCTCGAGGTGGCCT	0.547000														68			16		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14080949	14080949	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080949G>A	uc002mxv.3	-	9	1625	c.1353C>T	c.(1351-1353)ggC>ggT	p.G451G	RFX1_uc010dzi.2_Silent_p.G451G	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	451					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.G451G(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCAGACTCACGCCCTCAGCCG	0.622000														138			32		0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17586821	17586821	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17586821T>C	uc002zly.3	+	10	1153	c.1022T>C	c.(1021-1023)gTc>gCc	p.V341A		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	341					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CTGCTCATCGTCTGCATGACC	0.587000														67			9		0	0	1	0	0
FAM86C2P	645332	broad.mit.edu	37	11	67564237	67564237	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67564237C>A	uc001omt.4	-	2	250	c.227G>T	c.(226-228)gGg>gTg	p.G76V						Homo sapiens family with sequence similarity 86, member C2, pseudogene (FAM86C2P), non-coding RNA.																		GCTGGTGCTCCCGGCAGGCAG	0.612000														147			19		1.74807e-11	1.99175e-11	1	1	0
AMHR2	269	broad.mit.edu	37	12	53823757	53823757	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823757G>A	uc001scx.2	+	8	1363	c.1283G>A	c.(1282-1284)aGg>aAg	p.R428K	AMHR2_uc009zmy.2_Missense_Mutation_p.R428K|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	428	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCAGATTTGAGGCCTGGTAAG	0.587000														228			61		0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79760664	79760664	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79760664G>A	uc002bew.1	+	3	2764	c.2689G>A	c.(2689-2691)Gct>Act	p.A897T	KIAA1024_uc010unk.1_3'UTR	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	897						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGCTCTGATCGCTGCTGCGGC	0.458000														39			12		0	0	1	0	0
MSTO1	55154	broad.mit.edu	37	1	155581999	155581999	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155581999C>T	uc001fky.3	+	7	738	c.705C>T	c.(703-705)caC>caT	p.H235H	MSTO1_uc001fkw.3_Silent_p.H235H|MSTO1_uc001fkx.3_Silent_p.H235H|MSTO1_uc001fld.4_Silent_p.H57H|MSTO1_uc009wqs.3_Silent_p.H114H|MSTO1_uc010pgf.2_Silent_p.H180H|MSTO1_uc001fla.3_Silent_p.H54H|MSTO1_uc001flb.3_Silent_p.H104H|MSTO1_uc001flc.3_Silent_p.H57H	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	Homo sapiens misato homolog 1 (Drosophila) (MSTO1), mRNA.	235					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GTGACCTGCACGATGGCTTCT	0.567000														105			19		0	0	1	0	0
ARHGEF5	7984	broad.mit.edu	37	7	144060720	144060720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144060720C>T	uc003wel.3	+	1	1076	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ARHGEF5_uc003wek.3_Missense_Mutation_p.P320S	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	320					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TCAGGGAGGTCCAGAACAGGG	0.542000														348			24		0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137234651	137234651	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137234651C>A	uc003qhd.3	+	9	1061	c.959C>A	c.(958-960)aCt>aAt	p.T320N	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	320					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GCTTGTCTTACTATTCCTGCT	0.358000														99			32		3.90053e-15	4.60698e-15	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115962165	115962165	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115962165C>T	uc004bgs.2	-	6	730	c.577G>A	c.(577-579)Gct>Act	p.A193T	FKBP15_uc010muu.1_Missense_Mutation_p.A257T|FKBP15_uc011lxd.1_Missense_Mutation_p.A125T|FKBP15_uc010mut.1_Missense_Mutation_p.A61T|FKBP15_uc004bgt.2_Missense_Mutation_p.A193T	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	193					endocytosis|protein folding	axon|early endosome	actin binding	p.A218T(1)|p.A193T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACTTCTACAGCAGGGCCGTCT	0.502000														34			10		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6432329	6432329	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6432329G>A	uc001mdb.1	-	1	349	c.249C>T	c.(247-249)gcC>gcT	p.A83A	APBB1_uc001mdc.1_Silent_p.A83A|APBB1_uc010rah.1_Intron	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	83					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGTCACGGTGGGCCGTGGCGG	0.662000														672			25		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27500951	27500951	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27500951G>A	uc002dov.2	-	19	3305	c.3265C>T	c.(3265-3267)Cgc>Tgc	p.R1089C	GTF3C1_uc002dou.3_Missense_Mutation_p.R1089C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1089						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGCACTTGCGCTCCAGGTTG	0.667000														41			10		0	0	1	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111614190	111614190	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111614190C>A	uc001plw.1	-	11	1548	c.1464G>T	c.(1462-1464)gaG>gaT	p.E488D	PPP2R1B_uc010rwi.1_Missense_Mutation_p.E424D|PPP2R1B_uc001plx.1_Missense_Mutation_p.E488D|PPP2R1B_uc010rwk.1_Missense_Mutation_p.E443D|PPP2R1B_uc010rwl.1_Missense_Mutation_p.E361D|PPP2R1B_uc010rwj.1_Missense_Mutation_p.E327D	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	488							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGGCCCACTCTGTACCAA	0.388000														152			26		6.32553e-13	7.33687e-13	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6644403	6644403	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6644403A>G	uc001mem.1	-	20	8905	c.8504T>C	c.(8503-8505)gTg>gCg	p.V2835A	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2835	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGGCCTGCACGTGACCCAA	0.567000														32			3		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18901411	18901411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901411G>A	uc002nke.3	-	2	213	c.177C>T	c.(175-177)atC>atT	p.I59I	COMP_uc002nkd.3_Silent_p.I26I|COMP_uc010xqj.2_Silent_p.I59I	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	59	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding	p.I59I(2)		breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCAGGAACGTGATCTCCCTGA	0.622000														534			109		0	0	1	0	0
POLDIP3	84271	broad.mit.edu	37	22	42988051	42988051	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42988051G>A	uc011apq.2	-	6	1081	c.982C>T	c.(982-984)Ctg>Ttg	p.L328L	POLDIP3_uc011app.2_Silent_p.L232L|POLDIP3_uc011apr.2_Non-coding_Transcript|POLDIP3_uc003bcu.3_Silent_p.L311L|POLDIP3_uc003bcv.3_Silent_p.L282L|POLDIP3_uc010gza.3_Non-coding_Transcript	NM_032311	NP_115687	Q9BY77	PDIP3_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 3 (POLDIP3), transcript variant 1, mRNA.	311	RRM.				positive regulation of translation	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	16						GGATGGACCAGTCGAGCTCGC	0.542000														224			37		0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127113	226127113	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226127113C>T	uc001hpt.2	-	2	928	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	LEFTY2_uc010pvk.2_Missense_Mutation_p.G195R|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	229					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TCCCCAAGCCCGGCTGGCGCC	0.692000														66			21		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57060576	57060576	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57060576G>A	uc021tiu.1	+	4	1848	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NLRC5_uc021tit.1_Missense_Mutation_p.R574H|NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.R379H|NLRC5_uc021tiw.1_Missense_Mutation_p.R379H|NLRC5_uc010ccr.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	574					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)				TGCACCTGCCGCCCCTTCCTT	0.632000														194			20		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44815292	44815292	+	Missense_Mutation	SNP	C	T	T	rs117065621	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44815292C>T	uc002xrm.2	-	8	1997	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	CDH22_uc010ghk.1_Missense_Mutation_p.R533H	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	533	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GAAATAGAAGCGGTGCCCGCC	0.587000														111			30		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149481008	149481008	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149481008C>T	uc010lpk.3	+	17	2490	c.2490C>T	c.(2488-2490)ggC>ggT	p.G830G	SSPO_uc010lpl.1_Silent_p.G165G	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	830	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTCCTGGTGGCCAGGAGTACC	0.622000														57			10		0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71164835	71164835	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71164835C>T	uc001jpn.2	-	4	1539	c.944G>A	c.(943-945)cGc>cAc	p.R315H	TACR2_uc001jpm.2_Missense_Mutation_p.R103H	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	315					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAATCCAGAGCGAAACCTGGG	0.622000														100			30		0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150648836	150648836	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150648836C>T	uc003wic.3	-	6	2046	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	KCNH2_uc003wib.3_Missense_Mutation_p.V209M|KCNH2_uc011kux.2_Missense_Mutation_p.V453M|KCNH2_uc003wid.3_Missense_Mutation_p.V209M|KCNH2_uc003wie.3_Missense_Mutation_p.V549M	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	549					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	AAGAACAGCACGGCCGCGCCG	0.647000														113			26		0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5641869	5641869	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5641869C>A	uc002mcg.3	+	3	629	c.458C>A	c.(457-459)gCt>gAt	p.A153D	SAFB_uc010xiq.2_Missense_Mutation_p.A153D|SAFB_uc002mcf.3_Missense_Mutation_p.A153D|SAFB_uc002mce.4_Missense_Mutation_p.A153D|SAFB_uc010xis.2_Intron|SAFB_uc010xit.2_Intron|SAFB_uc010xir.2_Missense_Mutation_p.A153D|SAFB_uc010xiu.2_Intron	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	153					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|double-stranded DNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		GACGATGATGCTGATAACCTC	0.488000														151			34		5.8336e-16	6.9331e-16	1	1	0
GLB1L	79411	broad.mit.edu	37	2	220107551	220107551	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220107551G>T	uc002vkm.3	-	3	568	c.329C>A	c.(328-330)gCt>gAt	p.A110D	GLB1L_uc002vkk.3_5'Flank|GLB1L_uc010zkx.2_Missense_Mutation_p.A110D|GLB1L_uc002vkn.3_Missense_Mutation_p.A110D|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	110					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGCTAGAGCTGCCTCATT	0.507000														159			50		3.76525e-18	4.53817e-18	1	1	0
UCMA	221044	broad.mit.edu	37	10	13276255	13276255	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13276255T>G	uc001imd.3	-	0	74	c.4A>C	c.(4-6)Act>Cct	p.T2P		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	2						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TGTCTCCAAGTCATCTTTGCA	0.602000														57			9		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8424198	8424198	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8424198G>A	uc001ape.3	-	15	2468	c.1658C>T	c.(1657-1659)cCg>cTg	p.P553L	RERE_uc001apf.3_Missense_Mutation_p.P553L|RERE_uc010nzx.1_Missense_Mutation_p.P285L|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	553					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GAACATAAACGGTGGCGGGTC	0.602000														196			13		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63029241	63029241	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63029241C>T	uc002alb.4	+	25	3523	c.3523C>T	c.(3523-3525)Ctg>Ttg	p.L1175L		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1175	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCCTGATTGCACC	0.547000														100			10		0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95092163	95092163	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95092163C>A	uc010afh.3	-	9	2075	c.1648G>T	c.(1648-1650)Gaa>Taa	p.E550*	DCT_uc001vlv.4_Nonsense_Mutation_p.E517*	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	517					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TAGGCTTCTTCTGTGTATCTC	0.438000														101			25		7.87624e-14	9.21814e-14	1	1	0
NEK10	152110	broad.mit.edu	37	3	27326381	27326381	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:27326381C>A	uc003cdt.2	-	21	2135	c.1861G>T	c.(1861-1863)Gaa>Taa	p.E621*	NEK10_uc003cds.1_Nonsense_Mutation_p.E18*	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	621	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGATGTTTTTCCTTCAAAGAA	0.328000														59			14		9.05144e-12	1.03561e-11	1	1	0
FAM83G	644815	broad.mit.edu	37	17	18881119	18881119	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881119G>A	uc002guw.3	-	4	2027	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	620										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCTCACCTCGAAGTACTCCT	0.667000														129			33		0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53899866	53899866	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53899866G>A	uc001sdo.3	+	8	1523	c.1035G>A	c.(1033-1035)gaG>gaA	p.E345E	TARBP2_uc001sdp.3_Silent_p.E324E|TARBP2_uc001sdr.3_Silent_p.E201E|TARBP2_uc001sdt.3_Silent_p.E324E	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	345	DRBM 3.|Sufficient for interaction with DICER1.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCACCAGGGAGGCAGCCCGTG	0.632000														118			19		0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39353422	39353422	+	Missense_Mutation	SNP	G	A	A	rs139112928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39353422G>A	uc003oot.2	-	15	1932	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	KIF6_uc003oos.2_Missense_Mutation_p.R64W|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.R404W|KIF6_uc011dua.1_Intron|KIF6_uc010jxb.1_Missense_Mutation_p.R557W	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	613					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.R613W(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTATATGCCGCTGGGTGATT	0.468000														78			11		0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228363174	228363174	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363174C>T	uc001hsl.4	+	2	1120	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	IBA57_uc010pvw.2_Missense_Mutation_p.A151V	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	344					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GTGGCCTTAGCCGCATCTGTG	0.647000														274			42		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114158175	114158175	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114158175G>T	uc003ibe.4	+	5	616	c.516G>T	c.(514-516)caG>caT	p.Q172H	ANK2_uc003ibd.4_Missense_Mutation_p.Q151H|ANK2_uc003ibf.4_Missense_Mutation_p.Q172H|ANK2_uc003ibc.2_Missense_Mutation_p.Q148H|ANK2_uc011cgb.1_Missense_Mutation_p.Q187H	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	172					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCACTCCAGCAAGGACACA	0.473000														190			41		1.59932e-28	2.00788e-28	1	1	0
PMS2P3	5387	broad.mit.edu	37	7	75140406	75140406	+	RNA	SNP	C	T	T	rs146002309		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75140406C>T	uc022agi.1	-	7		c.1227G>A			PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA.											lung(1)	1						CAACCTTCACCGACGCGTGGC	0.537000														216			48		0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8089918	8089918	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:8089918C>T	uc003gko.3	-	3	575	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_uc003gkm.4_Silent_p.A144A|ABLIM2_uc003gkp.3_Silent_p.A144A|ABLIM2_uc003gkq.3_Silent_p.A144A|ABLIM2_uc003gkr.3_Silent_p.A144A|ABLIM2_uc003gkj.4_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632000														51			10		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111693934	111693934	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111693934G>T	uc003puy.4	-	12	5965	c.5624C>A	c.(5623-5625)gCt>gAt	p.A1875D	REV3L_uc003pux.4_Missense_Mutation_p.A1797D|REV3L_uc003puz.4_Missense_Mutation_p.A1797D	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1875	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CAGAATGTTAGCAGTTCGAGG	0.418000								DNA polymerases (catalytic subunits)						217			49		5.13769e-22	6.32237e-22	1	1	0
ZNF32	7580	broad.mit.edu	37	10	44139542	44139542	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44139542G>A	uc001jbb.3	-	2	967	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L	ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Silent_p.L260L	NM_001005368	NP_008904	P17041	ZNF32_HUMAN	Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TGCACAGCCAGACTCCCTCTC	0.498000														78			10		0	0	1	0	0
DKFZp666K117	0	broad.mit.edu	37	13	32527006	32527006	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527006C>A	uc001utu.2	+	3		c.764C>A			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		GCTGAACGTGCTGGAGAAGAG	0.672000														64			13		2.27111e-07	2.44751e-07	1	1	0
ZNF780B	163131	broad.mit.edu	37	19	40542318	40542318	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40542318G>T	uc002omu.3	-	4	513	c.448C>A	c.(448-450)Cct>Act	p.P150T	ZNF780B_uc002omv.3_Missense_Mutation_p.P2T	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN	Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTATAAGCAGGCATTTCTTCA	0.343000														47			17		3.45872e-05	3.61362e-05	1	1	0
ZNF250	58500	broad.mit.edu	37	8	146107485	146107485	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146107485G>T	uc003zeq.4	-	5	1215	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Silent_p.P361P|ZNF250_uc010mgg.3_Silent_p.P361P	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACGTGTAGGGCTTCTCCC	0.582000														113			21		7.41877e-09	8.17068e-09	1	1	0
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419126G>A	uc003njj.3	-	4	3023	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_uc010jqv.3_Missense_Mutation_p.R738C|ZNF184_uc003nji.3_Missense_Mutation_p.R738C	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383000														171			32		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768179	31768179	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31768179G>A	uc002nsy.4	-	1	2585	c.2520C>T	c.(2518-2520)cgC>cgT	p.R840R		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	840					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGCATTCTCGCGTAGCGGCG	0.522000														230			61		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152694260	152694260	+	Missense_Mutation	SNP	G	A	A	rs146402274		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152694260G>A	uc021zhb.1	-	56	9642	c.9419C>T	c.(9418-9420)gCg>gTg	p.A3140V	SYNE1_uc003qot.4_Missense_Mutation_p.A3147V|SYNE1_uc003qou.4_Missense_Mutation_p.A3140V|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Missense_Mutation_p.A218V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3140					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATCCCTTTCGCTTTCTCTTT	0.398000										HNSCC(10;0.0054)				188			45		0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2280862	2280862	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2280862C>T	uc002lvn.2	-	1	169	c.69G>A	c.(67-69)acG>acA	p.T23T	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	23										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTTGCTATACGTGGGCTGAG	0.697000														49			19		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45970515	45970515	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45970515G>A	uc003bgj.1	+	14	1969	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	608					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTCCGCGAGTTCACCCG	0.647000														71			23		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197665544	197665544	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665544C>T	uc003fyo.3	-	3	536	c.390G>A	c.(388-390)ttG>ttA	p.L130L	IQCG_uc003fyn.3_Silent_p.L32L|IQCG_uc003fyp.3_Silent_p.L130L|IQCG_uc003fyq.4_Silent_p.L130L	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	130										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGATTTCTGGCAAGTTGGGTC	0.433000														363			80		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597464	247597464	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247597464G>A	uc001icr.3	+	6	2525	c.2387G>A	c.(2386-2388)aGc>aAc	p.S796N	NLRP3_uc001ics.3_Missense_Mutation_p.S796N|NLRP3_uc001icu.3_Missense_Mutation_p.S796N|NLRP3_uc001icw.3_Missense_Mutation_p.S739N|NLRP3_uc001icv.3_Missense_Mutation_p.S739N|NLRP3_uc010pyw.2_Splice_Site_p.C774_splice	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	796					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	p.S796R(1)		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)			GTCCTCAGCAGCAACCAGAAG	0.557000														208			60		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17945726	17945726	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945726C>T	uc002nhn.4	-	15	2234	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.G712S	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	712	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACCGTGGCGCCGAAGCCCCAC	0.622000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									222			18		0	0	1	0	0
SYT14	255928	broad.mit.edu	37	1	210273403	210273403	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210273403A>C	uc001hhs.4	+	6	954	c.896A>C	c.(895-897)gAt>gCt	p.D299A	SYT14_uc001hht.4_Missense_Mutation_p.D254A|SYT14_uc010psn.2_Missense_Mutation_p.D299A|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.D216A|SYT14_uc009xcv.3_Missense_Mutation_p.D254A	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	254	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAACCTTTTGATCCTGAGCCA	0.383000														79			14		0	0	1	0	0
ACTR10	55860	broad.mit.edu	37	14	58697142	58697142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58697142G>A	uc001xdf.3	+	10	917	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	C14orf37_uc010tro.2_Intron|ACTR10_uc021rtr.1_Missense_Mutation_p.E74K|ACTR10_uc010trp.2_Non-coding_Transcript|ACTR10_uc010apc.3_Missense_Mutation_p.E62K	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	272						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AATTCTTTTTGAACAAGATAA	0.318000														71			11		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218421	105218421	+	Missense_Mutation	SNP	C	T	T	rs146465393	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218421C>T	uc001kxe.2	-	0	228	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	30						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						TGGGCACTGGCCAGGGCCATG	0.612000														118			32		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	41991346	41991346	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41991346G>T	uc010ucy.2	+	4	2358	c.2177G>T	c.(2176-2178)gGt>gTt	p.G726V	MGA_uc001zog.1_Missense_Mutation_p.G726V|MGA_uc010ucz.2_Missense_Mutation_p.G726V	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	726						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATACATCCTGGTCTTCAAGAA	0.373000														19			3		0.115264	0.115636	1	1	0
ZNF324	25799	broad.mit.edu	37	19	58983274	58983274	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58983274G>A	uc002qsw.2	+	3	1560	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	472					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCAGCCACCGGCGCATTCAC	0.687000														168			35		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7786082	7786082	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7786082G>T	uc001ijs.3	+	17	2409	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	749					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGCCAAGAAGCCCAACAATG	0.383000														40			8		5.18039e-06	5.47662e-06	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122632714	122632714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122632714C>T	uc003efz.1	-	14	2427	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R650Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R708Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R650Q|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	708	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.S707N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCGTTCCTCCCGGCTCTTGCC	0.662000														230			56		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528312	157528312	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157528312T>C	uc003qqp.3	+	18	5998	c.5998T>C	c.(5998-6000)Tgg>Cgg	p.W2000R	ARID1B_uc003qqo.3_Missense_Mutation_p.W2013R|ARID1B_uc003qqn.3_Missense_Mutation_p.W2053R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	2000					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGATGAGTGGTGGTGGGACTG	0.542000														139			27		0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130581937	130581937	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130581937C>T	uc004bsj.4	-	9	1688	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A	ENG_uc011mam.2_Silent_p.A236A|ENG_uc004bsk.4_Silent_p.A425A|AK057719_uc004bsl.1_Intron	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	425	Ser/Thr-rich.				BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TATTGACCACCGCCTGCGGGG	0.607000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					29			12		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3703686	3703686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3703686G>A	uc001akx.1	-	1	832	c.804C>T	c.(802-804)ggC>ggT	p.G268G		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	268					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACGGCCCTTGCCCTTCCCGC	0.657000														141			15		0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72343146	72343146	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72343146G>A	uc002llw.2	+	0	224	c.171G>A	c.(169-171)tcG>tcA	p.S57S	ZNF407_uc010xfc.2_Silent_p.S57S|ZNF407_uc010dqu.2_Silent_p.S57S|ZNF407_uc002llu.2_Silent_p.S56S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S57S(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CAGAATCATCGAACTCTGATA	0.413000														103			24		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88400699	88400699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88400699G>A	uc010ikm.3	-	10	2421	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SPARCL1_uc011cdc.2_Nonsense_Mutation_p.R492*|SPARCL1_uc003hqs.4_Nonsense_Mutation_p.R617*|SPARCL1_uc011cdd.2_Nonsense_Mutation_p.R492*	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	617					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGAGATGCTCGCAGAGGAGCA	0.478000														134			26		0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36986961	36986961	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36986961C>T	uc001wtu.3	-	2	824	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.R213H|NKX2-1_uc001wtv.3_Missense_Mutation_p.R213H|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	213	Poly-Gly.				epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CATTTTGTAGCGGTGGTTCTG	0.672000			A		NSCLC									54			4		0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021795	3021795	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3021795G>A	uc002csj.4	+	2	1002	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PAQR4_uc002csk.4_Missense_Mutation_p.R184H|PAQR4_uc002csl.4_Missense_Mutation_p.R149H|PAQR4_uc010uwm.2_Missense_Mutation_p.R154H	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	223						integral to membrane	receptor activity	p.R223L(2)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AATGTAGCCCGTCTGCCCGAG	0.672000														188			23		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128951	35128951	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35128951C>T	uc002xff.3	+	9	2875	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	DLGAP4_uc010zvp.2_Missense_Mutation_p.R814W|DLGAP4_uc002xfg.3_Missense_Mutation_p.R110W|DLGAP4_uc002xfh.3_Missense_Mutation_p.R278W|DLGAP4_uc002xfi.3_Missense_Mutation_p.R123W|DLGAP4_uc002xfj.3_Missense_Mutation_p.R110W	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	817					cell-cell signaling	membrane	protein binding	p.E813A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAACAGAGCGGCTGGAAGG	0.607000														151			25		0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34985290	34985290	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34985290C>T	uc010qej.2	-	1	508	c.178G>A	c.(178-180)Gac>Aac	p.D60N	PARD3_uc010qep.2_Missense_Mutation_p.D60N|PARD3_uc010qeq.2_Missense_Mutation_p.D60N|PARD3_uc010qek.2_Missense_Mutation_p.D60N|PARD3_uc010qel.2_Missense_Mutation_p.D60N|PARD3_uc010qem.2_Missense_Mutation_p.D60N|PARD3_uc010qen.2_Missense_Mutation_p.D60N|PARD3_uc010qeo.2_Missense_Mutation_p.D60N|PARD3_uc001ixr.2_Missense_Mutation_p.D60N|PARD3_uc001ixq.2_Missense_Mutation_p.D60N|PARD3_uc001ixp.2_Missense_Mutation_p.D60N|PARD3_uc001ixu.2_Missense_Mutation_p.D60N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	60					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCATCAAGGTCTAGTATTCCT	0.408000														216			32		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514763	233514763	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233514763G>A	uc001hvt.4	+	8	2272	c.2011G>A	c.(2011-2013)Gat>Aat	p.D671N	KIAA1804_uc001hvu.4_Missense_Mutation_p.D117N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	671					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGCCTACATTGATCTACCTCT	0.453000														120			11		0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5810310	5810310	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5810310T>C	uc009xid.3	-	8	1231	c.869A>G	c.(868-870)tAc>tGc	p.Y290C	GDI2_uc001iil.4_Missense_Mutation_p.Y286C|GDI2_uc001iim.4_Missense_Mutation_p.Y241C			P50395	GDIB_HUMAN	Homo sapiens GDP dissociation inhibitor 2 (GDI2), transcript variant 1, mRNA.	286					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	Rab GDP-dissociation inhibitor activity|protein binding			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ATCTTTTACGTAGCTGGGGTC	0.468000														79			22		0	0	1	0	0
MT1H	4496	broad.mit.edu	37	16	56704811	56704811	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56704811C>A	uc002ejw.3	+	3	166	c.95_splice	c.e3-1	p.S32_splice	MT1G_uc002eju.1_5'Flank|MT1G_uc002ejv.1_5'Flank	NM_005951	NP_005942	P80294	MT1H_HUMAN	Homo sapiens metallothionein 1H (MT1H), mRNA.	32	Alpha.						metal ion binding|protein binding			lung(5)	5						TTTCCCCAGGCTGCTGCTCCT	0.617000														182			14		6.72482e-11	7.60803e-11	1	1	0
CHP2	63928	broad.mit.edu	37	16	23767434	23767434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23767434G>A	uc002dmb.1	+	3	695	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	91	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTCATTTTCGCCCTGTAGAA	0.527000														100			18		0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148978788	148978788	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148978788G>A	uc011kuo.2	+	5	1158	c.995G>A	c.(994-996)gGg>gAg	p.G332E	AF035281_uc003wfr.4_Intron	NM_001195220	NP_001182149	C9J9J2	C9J9J2_HUMAN	Homo sapiens zinc finger family member 783 (ZNF783), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGCCACCGGGGGCCAGTGGG	0.721000														59			13		0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159273844	159273844	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159273844G>A	uc001ftq.3	+	3	300	c.203G>A	c.(202-204)gGc>gAc	p.G68D		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	68	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TTCCACAATGGCAGCCTTTCA	0.368000														138			25		0	0	1	0	0
LDB1	8861	broad.mit.edu	37	10	103869426	103869426	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103869426C>A	uc009xwz.3	-	7	1006	c.663G>T	c.(661-663)caG>caT	p.Q221H	LDB1_uc001kuk.4_Missense_Mutation_p.Q185H|LDB1_uc001kul.3_Missense_Mutation_p.Q185H	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	221					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GATCCAACATCTGGGGGTCTT	0.532000														98			24		4.4004e-07	4.72415e-07	1	1	0
FAM125B	89853	broad.mit.edu	37	9	129154412	129154412	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129154412G>A	uc004bqh.2	+	4	563	c.477G>A	c.(475-477)gcG>gcA	p.A159A	FAM125B_uc004bqg.2_Silent_p.A159A|FAM125B_uc011lzy.2_Silent_p.A144A|FAM125B_uc010mxd.3_Silent_p.A152A|FAM125B_uc011lzz.1_Silent_p.A152A	NM_033446	NP_258257	Q9H7P6	F125B_HUMAN	Homo sapiens family with sequence similarity 125, member B (FAM125B), transcript variant 1, mRNA.	159	MABP.				protein transport	late endosome membrane				kidney(1)|large_intestine(4)|lung(4)|urinary_tract(1)	10						CGGAAGCTGCGATTTGTGACA	0.468000														264			61		0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89171223	89171223	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89171223G>A	uc021ryf.1	-	12	2281	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	EML5_uc021ryg.1_Nonsense_Mutation_p.R678*|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	678						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AAGTGTAATCGAATACTATTT	0.343000														55			11		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155733187	155733187	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155733187C>A	uc001flz.2	-	21	4739	c.4642G>T	c.(4642-4644)Gca>Tca	p.A1548S	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.A1548S|GON4L_uc009wrh.1_Missense_Mutation_p.A1548S|GON4L_uc001fma.1_Missense_Mutation_p.A1548S|GON4L_uc001fmb.4_Missense_Mutation_p.A744S	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1548	Glu-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCCAACTGCTTCATCCGTC	0.502000														31			6		5.9392e-07	6.36579e-07	1	1	0
GZF1	64412	broad.mit.edu	37	20	23346039	23346039	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23346039A>G	uc010gdb.3	+	2	1193	c.1019A>G	c.(1018-1020)cAc>cGc	p.H340R	GZF1_uc002wsy.3_Missense_Mutation_p.H340R|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.H340R	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	340					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAGCACCGCCACGGCGTGGCC	0.592000														296			40		0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74654384	74654384	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74654384G>A	uc002sle.3	-	10	1389	c.1272C>T	c.(1270-1272)tgC>tgT	p.C424C	RTKN_uc002slc.3_Silent_p.C411C|RTKN_uc002sld.3_Silent_p.C374C	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	424					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTTCATCACAGCACTGCTTCC	0.498000														143			25		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559455	140559455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559455G>A	uc011dai.2	+	0	2085	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	614	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACGGAGCCCGGGCTGTTCGG	0.701000														235			59		0	0	1	0	0
CRX	1406	broad.mit.edu	37	19	48343134	48343134	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48343134G>A	uc002phq.4	+	3	1014	c.810G>A	c.(808-810)aaG>aaA	p.K270K		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	270					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			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)		TGGAATTCAAGGACCCCACGG	0.582000														319			52		0	0	1	0	0
GTF2H1	2965	broad.mit.edu	37	11	18359773	18359773	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18359773T>G	uc001moi.2	+	4	1159	c.465T>G	c.(463-465)tcT>tcG	p.S155S	GTF2H1_uc001moh.2_Silent_p.S155S|GTF2H1_uc009yhm.2_Silent_p.S39S	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	155					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CAGATAGTTCTTCCACATCCA	0.378000								Nucleotide excision repair (NER)						122			21		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96435918	96435918	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96435918C>T	uc004aub.3	+	17	2547	c.2400C>T	c.(2398-2400)tcC>tcT	p.S800S	PHF2_uc011lug.1_Silent_p.S683S|PHF2_uc004auc.3_Silent_p.S220S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	800					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAATGCTGTCCATGGCCAACC	0.667000														97			25		0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961097	1961097	+	Missense_Mutation	SNP	G	A	A	rs150455107		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1961097G>A	uc010gaj.3	-	2	879	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R213C|PDYN_uc021vzt.1_Missense_Mutation_p.R213C|PDYN_uc021vzu.1_Missense_Mutation_p.R213C|PDYN_uc002wfv.3_Missense_Mutation_p.R213C	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	213					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.R213C(2)|p.R213H(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACGAATGCGCCGCAAGAAG	0.597000														239			55		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181693628	181693628	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693628G>A	uc009wxt.3	+	16	2292	c.2097G>A	c.(2095-2097)ttG>ttA	p.L699L	CACNA1E_uc001gow.3_Silent_p.L699L|CACNA1E_uc009wxs.3_Silent_p.L699L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	699					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATGTGTTCTTGGCTATCGCTG	0.463000														30			9		0	0	1	0	0
BOP1	23246	broad.mit.edu	37	8	145512876	145512876	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145512876C>T	uc003zbr.1	-	1	277	c.209G>A	c.(208-210)aGc>aAc	p.S70N	HSF1_uc003zbt.4_5'Flank|HSF1_uc003zbu.4_5'Flank	NM_015201	NP_056016	Q14137	BOP1_HUMAN	Homo sapiens block of proliferation 1 (BOP1), mRNA.	70					cell proliferation|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	PeBoW complex|nucleoplasm	protein binding			lung(1)|urinary_tract(2)	3	all_cancers(97;4.06e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;2.61e-39)|all cancers(56;1.37e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.087)			ATCCTCACTGCTGTCACTGCC	0.597000														169			27		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849945	156849945	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156849945C>T	uc001fqh.1	+	15	2257	c.2201C>T	c.(2200-2202)aCg>aTg	p.T734M	NTRK1_uc001fqf.1_Missense_Mutation_p.T698M|NTRK1_uc009wsi.1_Missense_Mutation_p.T433M|NTRK1_uc001fqi.1_Missense_Mutation_p.T728M|NTRK1_uc009wsk.1_Missense_Mutation_p.T731M	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	734	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTCTCCAACACGGAGGTCAGC	0.622000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				169			32		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120581568	120581568	+	Missense_Mutation	SNP	G	A	A	rs138793770		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120581568G>A	uc003yos.2	-	21	2202	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	ENPP2_uc011lic.2_Missense_Mutation_p.R192W|ENPP2_uc003yor.2_Missense_Mutation_p.R289W|ENPP2_uc010mdd.2_Missense_Mutation_p.R679W|ENPP2_uc003yot.2_Missense_Mutation_p.R654W	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	654					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ACATCAGGCCGGACGCAACTG	0.512000														134			25		0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125047562	125047562	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125047562C>T	uc003yqw.3	+	18	2537	c.2331C>T	c.(2329-2331)gtC>gtT	p.V777V	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	777						integral to membrane		p.V777V(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)			AAGCAAAAGTCGACGTGTACC	0.498000														148			13		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204402964	204402964	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204402964A>C	uc001haw.3	-	25	4279	c.3800T>G	c.(3799-3801)cTc>cGc	p.L1267R	PIK3C2B_uc010pqv.2_Missense_Mutation_p.L1239R	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1267	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTGCGAATGAGGTTGTAGGC	0.502000														272			65		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25181949	25181949	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25181949G>T	uc003sxn.1	-	8	1423	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	288										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGGGCCCCAGACCTTAATGG	0.393000														83			14		7.93312e-07	8.47869e-07	1	1	0
INTS3	65123	broad.mit.edu	37	1	153730091	153730091	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153730091G>A	uc009wom.3	+	10	1222	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	INTS3_uc001fct.3_Missense_Mutation_p.R334H|INTS3_uc001fcu.3_Missense_Mutation_p.R26H|INTS3_uc001fcv.3_Missense_Mutation_p.R128H|INTS3_uc010peb.2_Missense_Mutation_p.R128H|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	335					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding	p.R334H(2)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGGTTCCAGCGCCAGTACCTG	0.498000														241			17		0	0	1	0	0
FBXL2	25827	broad.mit.edu	37	3	33415414	33415414	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33415414G>A	uc003cfp.3	+	9	728	c.657_splice	c.e9+1	p.S219_splice	FBXL2_uc011axm.1_Splice_Site|FBXL2_uc011axn.1_Splice_Site|FBXL2_uc011axp.2_Splice_Site_p.S135_splice|FBXL2_uc021wuy.1_Splice_Site_p.S151_splice|FBXL2_uc011axo.2_Splice_Site_p.S114_splice|FBXL2_uc011axr.1_Splice_Site|FBXL2_uc011axq.1_Splice_Site|FBXL2_uc011axs.1_Splice_Site	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	219					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTCCTGCTCAGTAAGTAGCGT	0.498000														79			26		0	0	1	0	0
C18orf54	162681	broad.mit.edu	37	18	51898889	51898889	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51898889A>G	uc002lfo.4	+	4	1426	c.1380A>G	c.(1378-1380)caA>caG	p.Q460Q	C18orf54_uc002lfn.4_Silent_p.Q299Q	NM_173529	NP_775800	Q8IYD9	CR054_HUMAN	Homo sapiens chromosome 18 open reading frame 54 (C18orf54), mRNA.	299						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		CCCTGAAACAAATGTTATTTA	0.358000														135			11		0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867249	6867249	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6867249A>G	uc001met.1	+	0	336	c.336A>G	c.(334-336)gaA>gaG	p.E112E		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGGTAGCTGAATGCTTCCTCC	0.532000														240			59		0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63204111	63204111	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:63204111A>C	uc002jfe.3	+	15	1478	c.1275A>C	c.(1273-1275)gaA>gaC	p.E425D	RGS9_uc021ubw.1_Missense_Mutation_p.E422D|RGS9_uc010dem.3_Missense_Mutation_p.E422D|RGS9_uc002jfd.3_Missense_Mutation_p.E422D|RGS9_uc002jfg.3_Missense_Mutation_p.E196D	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	425					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						AACCTCAGGAAACCACCAAGA	0.413000														48			15		0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22270975	22270975	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22270975G>T	uc010ecx.3	+	3	592	c.423G>T	c.(421-423)caG>caT	p.Q141H	ZNF257_uc010ecy.3_Missense_Mutation_p.Q109H	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAACTACCCAGAGCAAAATGT	0.313000														47			16		6.31663e-08	6.86475e-08	1	1	0
PTPRD	5789	broad.mit.edu	37	9	8376626	8376626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8376626C>T	uc003zkk.3	-	37	5230	c.4487G>A	c.(4486-4488)cGa>cAa	p.R1496Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R1090Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R1089Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R1080Q|PTPRD_uc003zks.3_Missense_Mutation_p.R1089Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R1086Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1496	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGCAAATGTTCGAACACAATA	0.418000										TSP Lung(15;0.13)				87			13		0	0	1	0	0
SGK196	84197	broad.mit.edu	37	8	42977294	42977294	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42977294G>T	uc003xpw.2	+	4	586	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	Homo sapiens protein kinase-like protein SgK196 (SGK196), mRNA.	109	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										CACTCTCACAGCTCACCAGCC	0.488000														122			35		8.4185e-14	9.84907e-14	1	1	0
TAB3	257397	broad.mit.edu	37	X	30872954	30872954	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:30872954C>A	uc004dcj.3	-	5	1491	c.828G>T	c.(826-828)caG>caT	p.Q276H	TAB3_uc004dck.3_Missense_Mutation_p.Q276H|TAB3_uc010ngl.3_Missense_Mutation_p.Q276H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	276	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACTGAGAAGGCTGATAGTTCT	0.522000														48			11		1.08611e-07	1.17606e-07	1	1	0
IFRD1	3475	broad.mit.edu	37	7	112095877	112095877	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:112095877A>T	uc003vgh.3	+	2	624	c.154A>T	c.(154-156)Agc>Tgc	p.S52C	IFRD1_uc011kmn.2_Missense_Mutation_p.S2C|IFRD1_uc003vgi.3_Missense_Mutation_p.S52C|IFRD1_uc003vgj.3_Missense_Mutation_p.S52C|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.S2C	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	52					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGAAACAATGAGCCATTGCAG	0.358000														82			13		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128528552	128528552	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128528552C>T	uc002tpg.2	-	1	203	c.4G>A	c.(4-6)Gct>Act	p.A2T	WDR33_uc002tph.2_Missense_Mutation_p.A2T|WDR33_uc002tpi.2_Missense_Mutation_p.A2T	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	2					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTGTAGCCATGGTGATG	0.408000														52			12		0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755732	242755732	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242755732G>T	uc002wcp.2	+	1	584	c.90G>T	c.(88-90)agG>agT	p.R30S	NEU4_uc010fzr.3_Missense_Mutation_p.R17S|NEU4_uc002wcm.3_Missense_Mutation_p.R17S|NEU4_uc002wco.2_Missense_Mutation_p.R17S|NEU4_uc002wcn.2_Missense_Mutation_p.R29S	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	17						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	p.T30M(1)		breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGCGGGAGAGGACGGGCCTGA	0.692000														109			25		2.48779e-11	2.83162e-11	1	1	0
FN1	2335	broad.mit.edu	37	2	216292951	216292951	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216292951C>A	uc002vfa.3	-	5	1062	c.796G>T	c.(796-798)Gga>Tga	p.G266*	FN1_uc002vfc.3_Nonsense_Mutation_p.G266*|FN1_uc002vfe.3_Nonsense_Mutation_p.G266*|FN1_uc002vff.3_Nonsense_Mutation_p.G266*|FN1_uc002vfg.3_Nonsense_Mutation_p.G266*|FN1_uc002vfh.3_Nonsense_Mutation_p.G266*|FN1_uc002vfi.3_Nonsense_Mutation_p.G266*|FN1_uc002vfj.3_Nonsense_Mutation_p.G266*|FN1_uc002vfb.3_Nonsense_Mutation_p.G266*|FN1_uc002vfl.3_Nonsense_Mutation_p.G266*	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	266	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCCACTCTCCTCGGCCGTTG	0.552000														148			34		2.08457e-15	2.46654e-15	1	1	0
WRAP73	49856	broad.mit.edu	37	1	3564022	3564022	+	Missense_Mutation	SNP	C	T	T	rs138332031		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3564022C>T	uc001ako.3	-	1	280	c.172G>A	c.(172-174)Gca>Aca	p.A58T	WRAP73_uc001akn.3_Missense_Mutation_p.A58T|WRAP73_uc010nzi.2_Missense_Mutation_p.A58T	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	Homo sapiens WD repeat containing, antisense to TP73 (WRAP73), mRNA.	58						centrosome	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGCGAGTCTGCCGACCACTCG	0.577000														45			7		0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8083913	8083913	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8083913C>T	uc001qtr.3	-	3	700	c.438G>A	c.(436-438)tcG>tcA	p.S146S		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	146					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GGGCAGTAGGCGAGATCTCTC	0.517000														118			33		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69202958	69202958	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69202958C>T	uc003hdx.3	-	3	1023	c.670G>A	c.(670-672)Gag>Aag	p.E224K	YTHDC1_uc003hdy.3_Missense_Mutation_p.E224K	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	224	Glu-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						tcatccacctcttcatcttct	0.478000														51			6		0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877873	130877873	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130877873G>A	uc010fmh.2	-	2	616	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	72						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						CACTCCCCCTGCAGCAGGGGA	0.587000														598			21		0	0	1	0	0
MAML2	84441	broad.mit.edu	37	11	95713041	95713041	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:95713041G>T	uc001pfw.1	-	4	3827	c.2542C>A	c.(2542-2544)Ctc>Atc	p.L848I		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	848					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GTAGACAGGAGGCTGGAATTG	0.423000			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid									52			21		4.35082e-09	4.81328e-09	1	1	0
ARF4	378	broad.mit.edu	37	3	57561333	57561333	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57561333G>T	uc003dix.4	-	4	746	c.398C>A	c.(397-399)gCt>gAt	p.A133D		NM_001660	NP_001651	P18085	ARF4_HUMAN	Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA.	133					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GATGGCCATAGCATTTGGCAA	0.383000														80			16		3.45872e-05	3.61362e-05	1	1	0
NEB	4703	broad.mit.edu	37	2	152466579	152466579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152466579C>T	uc021vrb.1	-	75	11374	c.11345G>A	c.(11344-11346)aGc>aAc	p.S3782N	NEB_uc002txu.3_Missense_Mutation_p.S4025N|NEB_uc021vrc.1_Missense_Mutation_p.S4025N|NEB_uc010fnx.3_Missense_Mutation_p.S3770N|NEB_uc021vrd.1_Missense_Mutation_p.S3782N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3782					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.Q3781K(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATCTTCAATGCTCTGGGCTCC	0.403000														68			17		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454840	179454840	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179454840C>A	uc021vsy.1	-	252	54133	c.53908G>T	c.(53908-53910)Gaa>Taa	p.E17970*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.E11665*|TTN_uc021vta.1_Nonsense_Mutation_p.E11598*|TTN_uc021vtb.1_Nonsense_Mutation_p.E11473*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18897	Fibronectin type-III 30.						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)			CTAACAGCTTCTTTAATTTGT	0.448000														100			44		7.05121e-23	8.70768e-23	1	1	0
GRAMD1C	54762	broad.mit.edu	37	3	113623099	113623099	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113623099G>A	uc003eaq.4	+	7	845	c.769G>A	c.(769-771)Gat>Aat	p.D257N	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Intron|GRAMD1C_uc003ear.3_Missense_Mutation_p.D90N|GRAMD1C_uc003eas.3_Missense_Mutation_p.D52N	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	257						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGAGTCATTCGATGGAAATTC	0.348000														59			15		0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67155901	67155901	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67155901C>A	uc001dcr.3	+	16	1689	c.1472C>A	c.(1471-1473)tCt>tAt	p.S491Y	SGIP1_uc010opd.2_Missense_Mutation_p.S91Y|SGIP1_uc001dcs.3_Missense_Mutation_p.S91Y|SGIP1_uc001dct.3_Missense_Mutation_p.S91Y|SGIP1_uc009wat.3_Missense_Mutation_p.S285Y	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	491	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCATTCATTCTTCCAGCCCT	0.453000														247			29		1.30897e-18	1.58338e-18	1	1	0
FBLN7	129804	broad.mit.edu	37	2	112944947	112944947	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112944947A>G	uc002tho.1	+	7	1455	c.1184A>G	c.(1183-1185)gAt>gGt	p.D395G	FBLN7_uc010fki.1_Missense_Mutation_p.D349G|FBLN7_uc010fkj.1_Missense_Mutation_p.D261G	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	395					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CAGACTGGGGATCTGATCCTT	0.647000														259			78		0	0	1	0	0
ULK4	54986	broad.mit.edu	37	3	41756938	41756938	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41756938C>A	uc003ckv.4	-	24	2778	c.2577_splice	c.e24+1	p.Q859_splice		NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	859							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TACAATAGTACCTGTGAAGTT	0.393000														76			14		4.36969e-10	4.89342e-10	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31818563	31818563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31818563G>A	uc001zfq.3	-	5	954	c.861C>T	c.(859-861)ggC>ggT	p.G287G	OTUD7A_uc001zfr.3_Silent_p.G294G	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	287	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CCCCGCCCGTGCCGCCATTCT	0.677000														26			4		0	0	1	0	0
CRYBA4	1413	broad.mit.edu	37	22	27021478	27021478	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:27021478G>A	uc003acz.4	+	3	227	c.192G>A	c.(190-192)ggG>ggA	p.G64G		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	64	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTCCAAGGGCAGCAGTACA	0.617000														375			80		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598615	179598615	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179598615A>G	uc021vsy.1	-	49	11994	c.11769T>C	c.(11767-11769)ccT>ccC	p.P3923P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P584P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4850							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)			CAAAGGTTGGAGGTTCTAGTT	0.368000														68			27		0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49165651	49165651	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49165651G>A	uc001rsh.4	-	17	3553	c.2893C>T	c.(2893-2895)Cgc>Tgc	p.R965C	ADCY6_uc001rsi.4_Missense_Mutation_p.R912C|ADCY6_uc001rsj.4_Missense_Mutation_p.R965C|ADCY6_uc010slw.1_Missense_Mutation_p.R196C	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TCATTGCGGCGCTCCCGGGCC	0.552000														163			18		0	0	1	0	0
UBL3	5412	broad.mit.edu	37	13	30341410	30341410	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30341410A>C	uc001usp.3	-	4	1481	c.336T>G	c.(334-336)aaT>aaG	p.N112K		NM_007106	NP_009037	O95164	UBL3_HUMAN	Homo sapiens ubiquitin-like 3 (UBL3), mRNA.	112						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		TTACACAACAATTACTCTCTC	0.433000														72			16		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	87080	87080	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87080A>G	uc003fzv.1	+	5	1788	c.1632A>G	c.(1630-1632)aaA>aaG	p.K544K	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Silent_p.K330K|ZNF718_uc011but.1_Silent_p.K330K	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CTGGAGAGAAACCCTACAAAT	0.378000														61			11		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8135104	8135104	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8135104G>A	uc002gkq.4	-	13	2474	c.2415C>T	c.(2413-2415)gtC>gtT	p.V805V	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	805					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						CAAACCAGCGGACTGAAGAGC	0.567000														142			26		0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813879	123813879	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123813879C>T	uc010sab.2	-	0	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223S(2)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGAACAGTGGCAAGAATGCAG	0.537000														135			17		0	0	1	0	0
TMPRSS12	283471	broad.mit.edu	37	12	51279109	51279109	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51279109G>T	uc001rwx.4	+	3	780	c.733G>T	c.(733-735)Gga>Tga	p.G245*	TMPRSS12_uc001rwy.3_Nonsense_Mutation_p.G245*	NM_182559	NP_872365	Q86WS5	TMPSC_HUMAN	Homo sapiens transmembrane (C-terminal) protease, serine 12 (TMPRSS12), mRNA.	245	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						GAGTTATGGGGGAATAATTCC	0.343000														178			11		9.70103e-10	1.08264e-09	1	1	0
FBXO25	26260	broad.mit.edu	37	8	418787	418787	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:418787G>A	uc003wox.3	+	10	1353	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	FBXO25_uc003woy.3_Missense_Mutation_p.D354N|FBXO25_uc003woz.3_Missense_Mutation_p.D287N|FBXO25_uc003wpa.3_Missense_Mutation_p.D137N	NM_183421	NP_904357	Q8TCJ0	FBX25_HUMAN	Homo sapiens F-box protein 25 (FBXO25), transcript variant 1, mRNA.	363						SCF ubiquitin ligase complex|nucleus	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		GCACTTCATCGACCTCTTCAA	0.582000														92			12		0	0	1	0	0
SYT14L	401135	broad.mit.edu	37	4	68928670	68928670	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68928670T>G	uc021xou.1	-	0	318	c.157A>C	c.(157-159)Att>Ctt	p.I53L	LOC550112_uc003hdl.4_Non-coding_Transcript|TMPRSS11F_uc003hdt.1_Intron|BC041902_uc011cak.2_Non-coding_Transcript|SYT14L_uc010ihn.3_Non-coding_Transcript					RecName: Full=Putative synaptotagmin-14-like protein; AltName: Full=Synaptotagmin XIV-derived protein; AltName: Full=Synaptotagmin XIV-like protein;											endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(2)	11						CTAATGAGAATTTCTGGAACT	0.433000														190			51		0	0	1	0	0
SPEM1	374768	broad.mit.edu	37	17	7323765	7323765	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7323765G>T	uc002ggv.3	+	0	87	c.62G>T	c.(61-63)aGc>aTc	p.S21I	SPEM1_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	Homo sapiens spermatid maturation 1 (SPEM1), mRNA.	21					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				AACAGCAACAGCTGCCAGGAC	0.607000														23			11		0.000673444	0.000690401	1	1	0
TNFAIP3	7128	broad.mit.edu	37	6	138200249	138200249	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138200249C>A	uc003qhr.3	+	6	1733	c.1667C>A	c.(1666-1668)cCt>cAt	p.P556H	TNFAIP3_uc003qhs.3_Missense_Mutation_p.P556H|TNFAIP3_uc021zfv.1_Missense_Mutation_p.P184H	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	556	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		ACCAGCCTCCCTCCTTCCTGT	0.602000			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""									165			41		1.22674e-20	1.49977e-20	1	1	0
KCNK6	9424	broad.mit.edu	37	19	38817849	38817849	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817849G>T	uc002oic.3	+	2	855	c.748G>T	c.(748-750)Gtg>Ttg	p.V250L	KCNK6_uc002oid.3_Missense_Mutation_p.V116L	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	250						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATGGTGCTGGTGCT	0.632000														137			19		3.57192e-18	4.31042e-18	1	1	0
ADRA2C	152	broad.mit.edu	37	4	3768908	3768908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3768908G>A	uc003ghm.3	+	0	613	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	192					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TCGCTCTACCGCCAGCCCGAC	0.667000														61			18		0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67285372	67285372	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67285372A>C	uc002jif.2	-	12	3066	c.1848T>G	c.(1846-1848)agT>agG	p.S616R	ABCA5_uc002jic.2_5'Flank|ABCA5_uc002jid.2_5'Flank|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.S616R|ABCA5_uc002jih.2_Missense_Mutation_p.S616R|ABCA5_uc010dfe.2_Missense_Mutation_p.S616R	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	616	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTGACCACCACTTAATTTTT	0.308000														42			10		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58260584	58260584	+	Silent	SNP	G	A	A	rs144453913		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58260584G>A	uc002iyo.1	-	30	4351	c.4065C>T	c.(4063-4065)gaC>gaT	p.D1355D	USP32_uc002iyn.1_Silent_p.D1025D	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1355					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCAGGAGCACGTCCTCTTCCC	0.577000														142			36		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136913346	136913346	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136913346G>A	uc004cew.3	-	5	1133	c.945C>T	c.(943-945)tgC>tgT	p.C315C	BRD3_uc004cex.2_Silent_p.C315C	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	315						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGATGCTGTCGCAGTAGCGTA	0.642000			T	C15orf55	lethal midline carcinoma of young people									77			14		0	0	1	0	0
ZCCHC3	85364	broad.mit.edu	37	20	279106	279106	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:279106C>A	uc002wdf.3	+	0	903	c.879C>A	c.(877-879)atC>atA	p.I293I		NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA.	293							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GGTTTGGGATCTGGACCGGGG	0.647000														214			48		1.81118e-26	2.26393e-26	1	1	0
CBFA2T2	9139	broad.mit.edu	37	20	32199034	32199034	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32199034C>T	uc002wzg.1	+	3	877	c.340C>T	c.(340-342)Cga>Tga	p.R114*	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Nonsense_Mutation_p.R105*|CBFA2T2_uc021wbz.1_Nonsense_Mutation_p.R85*|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Nonsense_Mutation_p.R85*|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	114	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TTGTGGTGCTCGACAACTCAG	0.517000														213			39		0	0	1	0	0
STRN4	29888	broad.mit.edu	37	19	47228870	47228870	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47228870C>T	uc002pfm.3	-	9	1338	c.1305G>A	c.(1303-1305)tgG>tgA	p.W435*	STRN4_uc002pfl.3_Nonsense_Mutation_p.W428*|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	428						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ACTTGGGGTTCCACGTCTTCT	0.607000														97			15		0	0	1	0	0
TUBGCP4	27229	broad.mit.edu	37	15	43672359	43672359	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43672359A>C	uc001zro.3	+	5	759	c.519A>C	c.(517-519)gaA>gaC	p.E173D	TUBGCP4_uc001zrn.3_Missense_Mutation_p.E173D|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	173					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GTGCACTGGAAAAGTAAGTCA	0.448000														54			14		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8244161	8244161	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8244161C>T	uc002knn.4	+	14	2909	c.2406C>T	c.(2404-2406)tgC>tgT	p.C802C	PTPRM_uc010dkv.3_Silent_p.C802C|PTPRM_uc010wzl.2_Silent_p.C589C	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	802					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCACAAACTGCGACGAGGCTT	0.483000														169			31		0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3381120	3381120	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3381120T>G	uc001lxt.3	-	5	1300	c.1118A>C	c.(1117-1119)cAg>cCg	p.Q373P	ZNF195_uc010qxr.2_Missense_Mutation_p.Q354P|ZNF195_uc009ydz.3_Missense_Mutation_p.Q328P|ZNF195_uc001lxu.3_Missense_Mutation_p.Q305P|ZNF195_uc001lxv.3_Missense_Mutation_p.Q350P|ZNF195_uc021qck.1_Missense_Mutation_p.Q305P|ZNF195_uc001lxs.3_Missense_Mutation_p.Q301P	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	373				Missing (in Ref. 2; BAD18466).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAGAATCATCTGTTGATTAGA	0.423000														192			51		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51220126	51220126	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51220126G>A	uc002psx.1	-	0	70	c.51C>T	c.(49-51)agC>agT	p.S17S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	17					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CGGGACACTCGCTGGCACTGT	0.736000														35			17		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179564779	179564779	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179564779G>A	uc010pnp.2	+	3	1175	c.657G>A	c.(655-657)caG>caA	p.Q219Q	TDRD5_uc021pfm.1_Silent_p.Q219Q|TDRD5_uc001gnf.2_Silent_p.Q219Q|TDRD5_uc021pfn.1_Silent_p.Q219Q	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	219	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTTTACCCAGCCATTTAGAA	0.393000														75			25		0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122763231	122763231	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:122763231C>T	uc003vkm.3	-	11	1324	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	SLC13A1_uc010lks.3_Nonsense_Mutation_p.W309*	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	433						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	TGGCTATATCCCAGGGCATGA	0.378000														99			25		0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132627285	132627285	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132627285A>G	uc001ujy.4	-	2	697	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	220					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	p.S219S(1)|p.S220S(1)		endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGAAAGTAGGACGAGATGCCG	0.627000														121			27		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6213356	6213356	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213356G>A	uc002mek.3	-	10	1707	c.1543C>T	c.(1543-1545)Ctg>Ttg	p.L515L		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	515					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						ACCTGCTGCAGCACGTTGCGC	0.721000			T	MLL	AL									342			80		0	0	1	0	0
DHODH	1723	broad.mit.edu	37	16	72055168	72055168	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72055168G>A	uc002fbp.3	+	4	684	c.663G>A	c.(661-663)cgG>cgA	p.R221R		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	221					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CCGGGCTGCGGAGCCTTCAGG	0.697000														53			11		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180022124	180022124	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180022124A>G	uc001gnt.3	+	22	5195	c.4812A>G	c.(4810-4812)acA>acG	p.T1604T	CEP350_uc009wxl.2_Silent_p.T1603T	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1604						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						CTATTGCAACAGAATATTCTC	0.323000														42			12		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155577	111155577	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:111155577G>A	uc004epl.1	-	2	1761	c.842C>T	c.(841-843)cCt>cTt	p.P281L	TRPC5_uc004epm.1_Missense_Mutation_p.P281L	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	281					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTACTTCTGAGGGTCAAGCTC	0.507000														210			63		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113439559	113439559	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113439559C>T	uc001vsj.4	+	1	238	c.150C>T	c.(148-150)atC>atT	p.I50I	ATP11A_uc001vsi.4_Silent_p.I50I|ATP11A_uc001vsm.1_5'UTR	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	50					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACAACAGGATCGTCTCGTCCA	0.552000														165			21		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567616	223567616	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223567616C>T	uc001hoa.2	+	0	902	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	267										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCTGACCCGTCTCAAGAAGGC	0.632000														70			20		0	0	1	0	0
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610500	76610500	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76610500G>T	uc011kgn.1	+	0		c.362G>T			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		TGGGGAGCCAGCCCCTCTACC	0.677000														146			33		2.48696e-23	3.07766e-23	1	1	0
CLCN6	1185	broad.mit.edu	37	1	11898697	11898697	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898697G>A	uc001ate.4	+	21	2622	c.2509G>A	c.(2509-2511)Gtg>Atg	p.V837M	CLCN6_uc010oat.2_Missense_Mutation_p.V553M|CLCN6_uc010oau.2_Missense_Mutation_p.V815M|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	837	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|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;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCTGCCCGTGGTGAACGC	0.622000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		197			18		0	0	1	0	0
TNNC1	7134	broad.mit.edu	37	3	52485481	52485481	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52485481G>A	uc003deb.3	-	4	406	c.380C>T	c.(379-381)aCc>aTc	p.T127I		NM_003280	NP_003271	P63316	TNNC1_HUMAN	Homo sapiens troponin C type 1 (slow) (TNNC1), mRNA.	127	EF-hand 3.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	CTCCGTGATGGTCTCGCCTGT	0.587000														100			19		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48908591	48908591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48908591C>T	uc002pjc.4	+	2	1154	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	356						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCGCACCCACCGCGGCGAGAG	0.622000														43			12		0	0	1	0	0
KBTBD5	131377	broad.mit.edu	37	3	42727236	42727236	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42727236C>T	uc003clv.1	+	0	226	c.126C>T	c.(124-126)cgC>cgT	p.R42R		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	42	BTB.									breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CGGGCGAGCGCGAGTTCCCGT	0.682000														93			24		0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174241551	174241551	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174241551G>A	uc001gjx.3	+	8	1264	c.987_splice	c.e8-1	p.R329_splice	RABGAP1L_uc009wwq.2_Splice_Site_p.R341_splice|RABGAP1L_uc001gjw.3_Splice_Site_p.R292_splice|RABGAP1L_uc001gjy.3_Splice_Site|RABGAP1L_uc001gjz.3_5'Flank	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	329					regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						AATATTTTCAGATGTTTTGGA	0.348000														78			10		0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101951987	101951987	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101951987C>A	uc001pgp.3	+	5	683	c.650C>A	c.(649-651)tCt>tAt	p.S217Y	C11orf70_uc001pgq.3_Missense_Mutation_p.S179Y	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	217										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CAGATTACCTCTTCTGTCTTT	0.294000														46			12		1.5842e-08	1.73923e-08	1	1	0
EEF1G	1937	broad.mit.edu	37	11	62334931	62334931	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62334931G>T	uc001ntm.1	-	5	738	c.592C>A	c.(592-594)Ccc>Acc	p.P198T	EEF1G_uc010rlw.1_Missense_Mutation_p.P248T	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	198	GST C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGGAACTGGGGCTGGTTAATG	0.537000														29			9		3.09899e-07	3.33423e-07	1	1	0
CEACAM16	388551	broad.mit.edu	37	19	45213775	45213775	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45213775G>A	uc010xxd.2	+	6	1481	c.1275G>A	c.(1273-1275)ggG>ggA	p.G425G		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	425										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CAGCCCTGGGGTAACAGCGTG	0.652000														239			47		0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125873462	125873462	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125873462C>T	uc003eim.1	-	5	845	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Splice_Site_p.A118_splice|ALDH1L1_uc003eio.3_5'UTR|ALDH1L1_uc010hsf.1_Missense_Mutation_p.A245T|ALDH1L1_uc003eip.1_Missense_Mutation_p.A126T|ALDH1L1_uc011bkj.1_Missense_Mutation_p.A44T	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	219					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTGTGAATGGCCTCTGCCGGC	0.617000														157			43		0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509926	41509926	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509926C>T	uc002opr.1	+	1	199	c.192C>T	c.(190-192)gaC>gaT	p.D64D	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Silent_p.D24D	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	64					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)	AATATGGGGACGTCTTCACGG	0.532000														134			25		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90513085	90513085	+	Silent	SNP	C	T	T	rs143953044		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90513085C>T	uc003pnn.1	-	1	407	c.291G>A	c.(289-291)tcG>tcA	p.S97S	MDN1_uc003pnp.1_Silent_p.S97S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	97					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTTGCTCATCGACACACATA	0.473000														230			53		0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74234997	74234997	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74234997C>T	uc003xzi.3	+	4	1542	c.854C>T	c.(853-855)cCc>cTc	p.P285L	RDH10_uc003xzj.3_Missense_Mutation_p.P120L|AK128216_uc003xzk.1_Intron	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	285					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			ACTGACCAGCCCATGATCTGC	0.517000														122			30		0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938529	2938529	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2938529C>A	uc001ajz.3	+	0	484	c.279C>A	c.(277-279)ctC>ctA	p.L93L		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	93						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGAAGCACCTCTTTGAGTGGG	0.612000														159			40		1.62957e-23	2.01904e-23	1	1	0
KRT12	3859	broad.mit.edu	37	17	39019556	39019556	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39019556C>T	uc002hvk.2	-	5	1159	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	379	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				GCGCAGTAATCGCCCTCGGCT	0.607000														69			9		0	0	1	0	0
TEKT3	64518	broad.mit.edu	37	17	15234932	15234932	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15234932C>T	uc002gon.3	-	3	159	c.-28_splice	c.e3-1			NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN	Homo sapiens tektin 3 (TEKT3), mRNA.						microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		TAAATCTCTCCTGTTAAAAAA	0.373000														46			14		0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751937	124751937	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124751937C>T	uc011lyl.2	-	3	1264	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.R36H|TTLL11_uc004blt.1_Missense_Mutation_p.R359H|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	359	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CCCTGCCAGGCGGATGTCACT	0.517000														200			35		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24527939	24527939	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24527939C>A	uc001wlj.2	+	17	1600	c.1443C>A	c.(1441-1443)acC>acA	p.T481T		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	481										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)		GAGCTGTCACCTGTGTAGGCA	0.637000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			22		3.6726e-16	4.37102e-16	1	1	0
LOC100506012	100506012	broad.mit.edu	37	19	47028947	47028947	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47028947C>T	uc021uwg.1	-	2	561	c.330G>A	c.(328-330)aaG>aaA	p.K110K		NM_001205281	NP_001192210	E7EU14	E7EU14_HUMAN	Homo sapiens serine/threonine-protein phosphatase 5-like (LOC100506012), mRNA.	110							metal ion binding|protein serine/threonine phosphatase activity										GGTGCAGTTTCTTCTGGTCCT	0.582000														43			7		0	0	1	0	0
DPYS	1807	broad.mit.edu	37	8	105459595	105459595	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105459595G>A	uc003yly.4	-	2	689	c.560C>T	c.(559-561)gCa>gTa	p.A187V		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	187					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTGGGCAATTGCTCCAATTTC	0.448000														76			24		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21659634	21659634	+	Nonsense_Mutation	SNP	C	T	T	rs72657321		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21659634C>T	uc003svc.3	+	24	4484	c.4453C>T	c.(4453-4455)Cga>Tga	p.R1485*		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1485	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTTCACTATCGAACAGGCAT	0.308000									Kartagener syndrome					61			14		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129238526	129238526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129238526G>A	uc003eml.3	+	29	3946	c.3740G>A	c.(3739-3741)cGc>cAc	p.R1247H	IFT122_uc003emm.3_Missense_Mutation_p.R1196H|IFT122_uc003emn.3_Missense_Mutation_p.R1137H|IFT122_uc003emo.3_Missense_Mutation_p.R1086H|IFT122_uc003emp.3_Missense_Mutation_p.R1046H|IFT122_uc010htc.3_Missense_Mutation_p.R1189H|IFT122_uc011bky.2_Missense_Mutation_p.R987H|IFT122_uc011bla.2_Missense_Mutation_p.R970H|IFT122_uc003emr.3_Missense_Mutation_p.R949H|IFT122_uc010hte.3_Missense_Mutation_p.R522H|IFT122_uc003ems.3_Missense_Mutation_p.R578H	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1196					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CAATACTTCCGCTCACTGCTG	0.622000														200			32		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167645592	167645592	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167645592C>T	uc010jjd.3	+	22	4669	c.4669C>T	c.(4669-4671)Cgg>Tgg	p.R1557W	ODZ2_uc003lzr.4_Missense_Mutation_p.R1327W|ODZ2_uc003lzt.4_Missense_Mutation_p.R930W|ODZ2_uc010jje.3_Missense_Mutation_p.R821W	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGAAATATTCGGATCAGGGC	0.483000														236			70		0	0	1	0	0
HSPA2	3306	broad.mit.edu	37	14	65008035	65008035	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65008035C>T	uc001xhj.3	+	1	544	c.468C>T	c.(466-468)cgC>cgT	p.R156R	HSPA2_uc001xhk.4_Silent_p.R156R	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	156					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		ACTCGCAGCGCCAGGCCACCA	0.637000														164			43		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138373804	138373804	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:138373804C>A	uc002tva.1	+	16	3393	c.3393C>A	c.(3391-3393)aaC>aaA	p.N1131K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CATCACTGAACTCAAGGACTT	0.443000														230			21		4.54149e-19	5.50826e-19	1	1	0
MMP17	4326	broad.mit.edu	37	12	132334409	132334409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132334409G>A	uc001ujc.1	+	8	1366	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MMP17_uc001ujd.1_Missense_Mutation_p.D339N	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	423	Hemopexin-like 2.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		CCCCGTCTCCGACTTCAGCCT	0.602000														297			69		0	0	1	0	0
TNFRSF11A	8792	broad.mit.edu	37	18	60029018	60029018	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60029018C>T	uc002lin.3	+	6	760	c.722C>T	c.(721-723)gCa>gTa	p.A241V	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	241					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.A241T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AAAGGGAAAGCACTCACAGGT	0.418000														193			46		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137703363	137703363	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137703363G>A	uc004cfe.3	+	45	3990	c.3608G>A	c.(3607-3609)cGg>cAg	p.R1203Q		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1203	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCGGGGCCTCGGGGCCAGCAG	0.652000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			17		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56615358	56615358	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56615358G>A	uc010xeg.2	+	5	2962	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H	ZNF532_uc002lhp.3_Missense_Mutation_p.R920H|ZNF532_uc002lho.3_Missense_Mutation_p.R922H|ZNF532_uc002lhr.3_Missense_Mutation_p.R920H|ZNF532_uc002lhs.3_Missense_Mutation_p.R920H|ZNF532_uc010xeh.2_Missense_Mutation_p.R14H	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	922					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTGCTGTATCGCCACTTTGAC	0.418000														172			45		0	0	1	0	0
KPNA5	3841	broad.mit.edu	37	6	117037383	117037383	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117037383T>C	uc003pxh.3	+	8	788	c.657_splice	c.e8-1	p.E219_splice		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	216	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TCTTGGCAGGTTATTAACAAA	0.318000														54			11		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825079	52825079	+	Missense_Mutation	SNP	A	C	C	rs149769756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825079A>C	uc010ydl.2	+	4	646	c.576A>C	c.(574-576)caA>caC	p.Q192H	ZNF480_uc002pyv.3_Missense_Mutation_p.Q115H|ZNF480_uc010ydm.2_Missense_Mutation_p.Q149H|ZNF480_uc010epn.3_Missense_Mutation_p.Q23H|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCCCACAAGAACAGAAAG	0.358000														85			8		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49845353	49845353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49845353C>T	uc003cxr.3	-	20	2702	c.2531G>A	c.(2530-2532)cGa>cAa	p.R844Q		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	844					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCCCACAATTCGCTTGCTCTG	0.612000														92			23		0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5754862	5754862	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5754862G>T	uc003zjl.4	+	13	1704	c.1513G>T	c.(1513-1515)Ggt>Tgt	p.G505C	KIAA1432_uc003zjh.3_Missense_Mutation_p.G463C|KIAA1432_uc003zji.3_Missense_Mutation_p.G463C|KIAA1432_uc003zjj.1_Missense_Mutation_p.G5C	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	542						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATCGTGACAGGTGGCTTAGC	0.284000														113			11		2.27111e-07	2.44751e-07	1	1	0
PDCL3	79031	broad.mit.edu	37	2	101186141	101186141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101186141C>T	uc002tao.2	+	3	438	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_024065	NP_076970	Q9H2J4	PDCL3_HUMAN	Homo sapiens phosducin-like 3 (PDCL3), mRNA.	109					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GTTACCAAAGCTGGCGAGGGC	0.428000														191			13		0	0	1	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269540	67269540	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67269540G>A	uc001olx.3	-	3	622	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PITPNM1_uc001oly.3_Missense_Mutation_p.R145W|PITPNM1_uc001olz.3_Missense_Mutation_p.R145W	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	145					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACTGCATCCCGCACGATGTCG	0.622000														94			6		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27185073	27185073	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185073C>T	uc001zbd.2	+	9	1257	c.725_splice	c.e9-1	p.G242_splice	GABRB3_uc001zbb.3_5'Flank|GABRA5_uc021sgi.1_Splice_Site_p.G242_splice	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	242					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TATTTGCAGGCGAATACACAA	0.493000														80			9		0	0	1	0	0
APPL2	55198	broad.mit.edu	37	12	105582102	105582102	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105582102T>G	uc010swu.1	-	16	1819	c.1601A>C	c.(1600-1602)aAc>aCc	p.N534T	APPL2_uc010swt.2_Missense_Mutation_p.N485T|APPL2_uc001tlf.1_Missense_Mutation_p.N528T|APPL2_uc001tlg.1_Missense_Mutation_p.N282T|APPL2_uc009zuq.3_Missense_Mutation_p.N485T	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	528	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GCGGAAGATGTTATGAATAGC	0.413000														107			21		0	0	1	0	0
FGFRL1	53834	broad.mit.edu	37	4	1018897	1018897	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1018897G>A	uc003gce.3	+	6	1438	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	FGFRL1_uc003gcf.3_Missense_Mutation_p.R426H|FGFRL1_uc003gcg.3_Missense_Mutation_p.R426H|FGFRL1_uc010ibo.3_Missense_Mutation_p.R426H	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	426					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCCCGCGACCGCAGCGGAGAC	0.726000														72			18		0	0	1	0	0
RNPEP	6051	broad.mit.edu	37	1	201972481	201972481	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201972481G>A	uc001gxd.3	+	8	1572	c.1543G>A	c.(1543-1545)Gag>Aag	p.E515K	RNPEP_uc001gxe.3_Missense_Mutation_p.E216K	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	515					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GTGGGCAGCCGAGGAGCTGGA	0.587000														63			28		0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51975574	51975574	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51975574C>T	uc002abh.3	+	3	743	c.340C>T	c.(340-342)Cga>Tga	p.R114*	SCG3_uc010ufz.2_5'UTR	NM_013243	NP_001158729	Q8WXD2	SCG3_HUMAN	Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA.	114					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AACCAAGAATCGAAAACTGAT	0.318000														95			13		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58838690	58838690	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58838690G>A	uc001xdp.3	+	23	4011	c.3757G>A	c.(3757-3759)Gct>Act	p.A1253T	ARID4A_uc001xdo.3_Missense_Mutation_p.A1199T|ARID4A_uc001xdq.3_Missense_Mutation_p.A1184T	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1253					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAATGTACTTGCTGTAGAATG	0.458000														39			11		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5013249	5013249	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5013249G>T	uc001lzv.3	+	4	669	c.651G>T	c.(649-651)caG>caT	p.Q217H		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	217					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGGCCTGCAGCACTCTGGGA	0.413000														77			12		0.000151284	0.000156809	1	1	0
VEPH1	79674	broad.mit.edu	37	3	157131821	157131821	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157131821T>C	uc003fbj.2	-	5	1174	c.755A>G	c.(754-756)gAc>gGc	p.D252G	VEPH1_uc003fbk.2_Missense_Mutation_p.D252G|VEPH1_uc010hvu.2_Missense_Mutation_p.D252G	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	252						plasma membrane		p.N251S(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TAGGATGATGTCATTATGGGT	0.418000														72			17		0	0	1	0	0
REPS1	85021	broad.mit.edu	37	6	139242254	139242254	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139242254G>T	uc003qii.3	-	10	1925	c.1346C>A	c.(1345-1347)gCt>gAt	p.A449D	REPS1_uc003qig.4_Missense_Mutation_p.A422D|REPS1_uc011edr.2_Missense_Mutation_p.A449D|REPS1_uc003qij.3_Missense_Mutation_p.A422D|REPS1_uc003qik.3_Missense_Mutation_p.A55D	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	449						coated pit|plasma membrane	SH3 domain binding|calcium ion binding	p.S448L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		ATGAACAATAGCAGTATCCTA	0.383000														68			18		9.16793e-09	1.00855e-08	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70504112	70504112	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70504112A>G	uc001dep.3	+	18	2521	c.2491A>G	c.(2491-2493)Aca>Gca	p.T831A	LRRC7_uc009wbg.3_Missense_Mutation_p.T115A|LRRC7_uc001deq.3_Missense_Mutation_p.T72A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	831						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACACAGACACACACCAGAAAC	0.498000														127			17		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454641	84454641	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:84454641G>T	uc001vlk.3	-	0	1888	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	334	LRRNT 2.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTAGCTAAGGGTTTGTTCC	0.552000														154			30		2.24059e-21	2.74853e-21	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58206921	58206921	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58206921G>A	uc010rkh.2	-	0	726	c.704C>T	c.(703-705)gCc>gTc	p.A235V		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGAAAAGGCCTTCTGGCG	0.423000														77			16		0	0	1	0	0
SCGN	10590	broad.mit.edu	37	6	25670258	25670258	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25670258A>T	uc003nfb.3	+	5	628	c.425A>T	c.(424-426)aAa>aTa	p.K142I	SCGN_uc010jpz.3_Nonsense_Mutation_p.K52*	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	142						extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CTTCACCACAAAAAGGCCATT	0.453000														216			49		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179201852	179201852	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179201852T>C	uc003mkm.3	+	4	3288	c.3025T>C	c.(3025-3027)Ttg>Ctg	p.L1009L	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	1009					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGAGTGATTTGGACGACCT	0.463000														262			48		0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57288100	57288100	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57288100C>A	uc002ixi.3	+	0	730	c.688C>A	c.(688-690)Ctg>Atg	p.L230M		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	230					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						ATTCAGAGCCCTGGATGGGCT	0.488000														111			9		3.86212e-05	4.026e-05	1	1	0
KDM4A	9682	broad.mit.edu	37	1	44149434	44149434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44149434G>A	uc001cjx.3	+	11	1980	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	605	Interaction with NCOR1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AAGCTCCCCCGCCATCACCCA	0.478000														138			10		0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9362113	9362113	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9362113C>A	uc002mlb.1	+	0	394	c.394C>A	c.(394-396)Ctc>Atc	p.L132I		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GGATGACATGCTCCTGAGTGT	0.478000														76			17		2.23348e-06	2.37297e-06	1	1	0
HES6	55502	broad.mit.edu	37	2	239147804	239147804	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239147804C>T	uc002vxz.3	-	3	474	c.339G>A	c.(337-339)acG>acA	p.T113T	HES6_uc002vya.3_Silent_p.T111T|HES6_uc002vyb.2_Missense_Mutation_p.V192M	NM_018645	NP_061115	Q96HZ4	HES6_HUMAN	Homo sapiens hairy and enhancer of split 6 (Drosophila) (HES6), transcript variant 1, mRNA.	113	Orange.				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGGCCTGGCACGTGGACACGA	0.672000														121			14		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698803	153698803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698803G>A	uc004flm.3	+	29	5178	c.5005G>A	c.(5005-5007)Gtg>Atg	p.V1669M		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1669					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.V1669V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GCAGAAGTTCGTGGATGACCT	0.607000														189			22		0	0	1	0	0
CLOCK	9575	broad.mit.edu	37	4	56304679	56304679	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:56304679T>C	uc003haz.1	-	22	3057	c.2131A>G	c.(2131-2133)Acc>Gcc	p.T711A	CLOCK_uc003hba.1_Missense_Mutation_p.T711A|CLOCK_uc010igu.1_Intron	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	711					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			ACTAATTTGGTCACAAGTTGT	0.408000														90			14		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1230812	1230812	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1230812G>A	uc009xhq.3	-	8	2358	c.2032C>T	c.(2032-2034)Ctg>Ttg	p.L678L	ADARB2_uc001igj.2_Silent_p.L62L|ADARB2_uc001igl.4_Silent_p.L40L|ADARB2_uc001igm.4_Silent_p.L187L	NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	678	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTGCCATACAGCCGCGCCCAC	0.652000														69			25		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111361	7111361	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7111361C>T	uc001mfc.2	+	0	1197	c.1010C>T	c.(1009-1011)tCg>tTg	p.S337L		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	337	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCGCTACTCGAGGGGCCGA	0.662000														86			14		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612015	53612015	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53612015G>A	uc002qax.3	-	6	1776	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	ZNF415_uc010yds.2_Missense_Mutation_p.A428V|ZNF415_uc010ydt.2_Missense_Mutation_p.A428V|ZNF415_uc002qau.3_Missense_Mutation_p.A415V|ZNF415_uc002qav.3_Missense_Mutation_p.A440V|ZNF415_uc002qaw.3_Missense_Mutation_p.A428V|ZNF415_uc002qay.3_Missense_Mutation_p.A415V|ZNF415_uc002qaz.3_Missense_Mutation_p.A476V|ZNF415_uc002qba.3_Missense_Mutation_p.A198V			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CCGATGACTCGCAAGGTGTGA	0.423000														138			46		0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127670198	127670198	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127670198C>T	uc003vmk.3	-	1	633	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Missense_Mutation_p.A166T	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	166						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CGGTTGAAGGCGTAAGAGGGG	0.572000														199			26		0	0	1	0	0
LCE1F	353137	broad.mit.edu	37	1	152749094	152749094	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152749094C>A	uc010pdv.2	+	0	247	c.247C>A	c.(247-249)Cgt>Agt	p.R83S		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701000														126			51		1.51926e-22	1.87318e-22	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187694554	187694554	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187694554G>A	uc002upu.1	-	7	1035	c.995C>T	c.(994-996)aCt>aTt	p.T332I		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	332					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ACTATTCTTAGTAATCAGTTG	0.388000														144			37		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212285171	212285171	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285171T>C	uc002veg.1	-	24	3228	c.3130A>G	c.(3130-3132)Aat>Gat	p.N1044D	ERBB4_uc002veh.1_Missense_Mutation_p.N1044D|ERBB4_uc010zji.1_Missense_Mutation_p.N1034D|ERBB4_uc010zjj.1_Missense_Mutation_p.N1034D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	1044					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CTTACCCTATTCGAGTCAATT	0.343000										TSP Lung(8;0.080)				37			5		0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50592518	50592518	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:50592518C>A	uc002lfe.2	+	6	1859	c.1243C>A	c.(1243-1245)Ctc>Atc	p.L415I	DCC_uc010xdr.1_Missense_Mutation_p.L263I|DCC_uc010dpf.2_Missense_Mutation_p.L70I	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	415	Ig-like C2-type 4.				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)		CAGTGCACAGCTCATTGTCCC	0.428000														117			24		6.21321e-17	7.43302e-17	1	1	0
SLC16A12	387700	broad.mit.edu	37	10	91203589	91203589	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91203589G>A	uc001kgm.3	-	3	529	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	46						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGTATGTCTGGAACTCCACAA	0.368000														54			11		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44973805	44973805	+	Missense_Mutation	SNP	C	T	T	rs75354082	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44973805C>T	uc001wvn.3	-	0	2695	c.2386G>A	c.(2386-2388)Gat>Aat	p.D796N		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	796						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTAGACAAATCTTTAAGGACA	0.383000														122			31		0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34101630	34101630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:34101630G>A	uc011kap.2	+	11	1423	c.1049G>A	c.(1048-1050)aGa>aAa	p.R350K		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	350	VWFC 5.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ATTCTCAACAGAAAAGGATGC	0.289000														32			5		0	0	1	0	0
RAB8A	4218	broad.mit.edu	37	19	16232605	16232605	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16232605C>A	uc002ndn.4	+	2	453	c.231C>A	c.(229-231)taC>taA	p.Y77*	RAB8A_uc002ndm.1_Nonsense_Mutation_p.Y77*|RAB8A_uc010xpc.2_Nonsense_Mutation_p.Y77*	NM_005370	NP_005361	P61006	RAB8A_HUMAN	Homo sapiens RAB8A, member RAS oncogene family (RAB8A), mRNA.	77					Golgi vesicle fusion to target membrane|cilium assembly|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CAACGGCCTACTACAGGGGTG	0.448000														133			32		3.99451e-17	4.78557e-17	1	1	0
NTN3	4917	broad.mit.edu	37	16	2522417	2522417	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2522417G>A	uc002cqj.3	+	0	918	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	239	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CATGGAGGCCGTCGTCCCTTA	0.657000														160			23		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53699719	53699719	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53699719G>A	uc003dgv.4	+	5	962	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	CACNA1D_uc003dgu.4_Missense_Mutation_p.A267T|CACNA1D_uc003dgy.4_Missense_Mutation_p.A267T|CACNA1D_uc003dgw.4_5'Flank	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	267					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATTATAAAAGCCATGGTTCC	0.333000														99			15		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148800888	148800888	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148800888C>A	uc003wfj.3	-	3	2208	c.2075G>T	c.(2074-2076)aGg>aTg	p.R692M		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	692					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTGGAAGGGCCTCTCTCCACT	0.562000														208			22		0.000175454	0.000181507	1	1	0
PTK7	5754	broad.mit.edu	37	6	43113120	43113120	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43113120C>T	uc011dve.1	+	15	2656	c.2614C>T	c.(2614-2616)Ctg>Ttg	p.L872L	PTK7_uc003oub.1_Silent_p.L864L|PTK7_uc003ouc.1_Silent_p.L808L|PTK7_uc003oud.1_Silent_p.L824L|PTK7_uc003oue.1_Silent_p.L734L|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Silent_p.L190L	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	864	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCTCCTGGGGCTGTGCCGGGA	0.622000														140			31		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085462	9085462	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085462G>A	uc002mkp.3	-	0	6557	c.6353C>T	c.(6352-6354)gCg>gTg	p.A2118V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2118	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAAAGTACTCGCGGCTGTATT	0.488000														233			40		0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42416055	42416055	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42416055G>T	uc003bbt.3	+	3	455	c.361G>T	c.(361-363)Gat>Tat	p.D121Y	WBP2NL_uc011apk.2_5'UTR|WBP2NL_uc003bbu.2_Non-coding_Transcript|WBP2NL_uc003bbv.1_Non-coding_Transcript	NM_152613	NP_689826	Q6ICG8	WBP2L_HUMAN	Homo sapiens WBP2 N-terminal like (WBP2NL), mRNA.	121			D -> G (in dbSNP:rs133335).		egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGAAATGGAGATGCCATTGA	0.428000														206			48		1.51926e-22	1.87318e-22	1	1	0
ZNF136	7695	broad.mit.edu	37	19	12298401	12298401	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298401C>A	uc002mti.3	+	3	1355	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	ZNF136_uc010xmh.2_Missense_Mutation_p.S337Y	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	403					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.H402R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCCTTTCATTCTCTGAGTCCA	0.383000														71			18		5.3912e-06	5.69533e-06	1	1	0
ITGA5	3678	broad.mit.edu	37	12	54795226	54795226	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54795226G>A	uc001sga.3	-	23	2492	c.2424C>T	c.(2422-2424)agC>agT	p.S808S		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	808					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GATGCCAGTCGCTTACTGGGA	0.572000														320			34		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151105814	151105814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151105814G>A	uc001ewv.3	-	19	2371	c.2035C>T	c.(2035-2037)Cgc>Tgc	p.R679C	SEMA6C_uc001ewu.3_Missense_Mutation_p.R647C|SEMA6C_uc001eww.3_Missense_Mutation_p.R639C	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAGAGAGGGCGCGGGAGCCCC	0.721000														49			15		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6027116	6027116	+	Missense_Mutation	SNP	C	T	T	rs112902065		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6027116C>T	uc003spl.3	-	10	1367	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H	PMS2_uc003spj.3_Missense_Mutation_p.R321H|PMS2_uc003spk.3_Missense_Mutation_p.R292H|PMS2_uc011jwl.2_Missense_Mutation_p.R292H|PMS2_uc010ktg.3_Missense_Mutation_p.R116H|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R427H	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	427					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TGTTGTGTGACGAAGAGAAAA	0.478000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					70			11		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134144149	134144149	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134144149G>A	uc003ytw.3	+	45	7997	c.7956G>A	c.(7954-7956)tcG>tcA	p.S2652S	TG_uc010mdw.3_Silent_p.S1411S|TG_uc011ljb.2_Silent_p.S1021S|TG_uc011ljc.2_Silent_p.S785S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2652					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.S2652S(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGAGCCTGTCGCTGAAAATCA	0.507000														129			33		0	0	1	0	0
B3GNT4	79369	broad.mit.edu	37	12	122691403	122691403	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122691403G>A	uc001ubx.3	+	2	823	c.605G>A	c.(604-606)cGc>cAc	p.R202H	B3GNT4_uc001uby.3_Missense_Mutation_p.R177H	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	202					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CACCTGCAGCGCTGGGTGGTG	0.567000														156			24		0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72184056	72184056	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72184056C>T	uc003xyu.3	-	9	1543	c.903G>A	c.(901-903)ggG>ggA	p.G301G	EYA1_uc003xyt.4_Silent_p.G268G|EYA1_uc003xyr.4_Silent_p.G296G|EYA1_uc010lzf.3_Silent_p.G228G|EYA1_uc003xys.4_Silent_p.G301G|EYA1_uc011lfe.2_Silent_p.G295G|EYA1_uc003xyv.3_Silent_p.G179G	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G301W(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CACGTGATTTCCCATCTGAAC	0.468000														258			55		0	0	1	0	0
ATP13A1	57130	broad.mit.edu	37	19	19767835	19767835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19767835G>A	uc002nnh.4	-	4	902	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.R174W	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	292					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCCATCTTCCGGATCTCCGAC	0.602000														29			8		0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526811	94526811	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94526811C>A	uc001ycj.3	-	4	1645	c.1546G>T	c.(1546-1548)Gct>Tct	p.A516S	DDX24_uc010twq.2_Missense_Mutation_p.A473S|DDX24_uc010twr.2_Missense_Mutation_p.A266S	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	516	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CGAGCAGGAGCCTGATGCACC	0.473000														253			48		8.72198e-27	1.09116e-26	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76022961	76022961	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022961G>A	uc010kbe.3	-	5	3126	c.2596C>T	c.(2596-2598)Ctc>Ttc	p.L866F	FILIP1_uc003phy.1_Missense_Mutation_p.L863F|FILIP1_uc003phz.3_Missense_Mutation_p.L764F|FILIP1_uc003pia.3_Missense_Mutation_p.L863F|FILIP1_uc003pib.1_Missense_Mutation_p.L615F	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	863										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCATAGTGAGCTCATTTGCT	0.473000														210			42		0	0	1	0	0
EWSR1	2130	broad.mit.edu	37	22	29678381	29678381	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29678381C>T	uc003aet.3	+	5	744	c.416C>T	c.(415-417)cCg>cTg	p.P139L	EWSR1_uc003aes.4_Missense_Mutation_p.P139L|EWSR1_uc003aev.3_Missense_Mutation_p.P145L|EWSR1_uc003aex.3_Missense_Mutation_p.P139L|EWSR1_uc003aew.3_Intron|EWSR1_uc003aey.3_5'UTR	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	139	31 X approximate tandem repeats.|EAD (Gln/Pro/Thr-rich).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCTCTTAGACCGCAGGATGGA	0.423000			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""									34			6		0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28538374	28538374	+	Missense_Mutation	SNP	T	C	C	rs28914832	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28538374T>C	uc002hey.4	-	9	1817	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	425			I -> L (in dbSNP:rs28914832).|I -> V (polymorphism linked with susceptibility to obsessive-compulsive disorder; increased serotonin transport capacity).		response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AAGAAGATGATGGCAAAGAAA	0.537000														71			13		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129281956	129281956	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129281956T>C	uc003emx.2	-	25	4749	c.4649A>G	c.(4648-4650)aAc>aGc	p.N1550S	PLXND1_uc011blb.1_Missense_Mutation_p.N218S	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1550					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGCCTCGATGTTCTCCCGCAG	0.642000														101			22		0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23345402	23345402	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23345402G>A	uc001whd.3	+	4	1798	c.1245G>A	c.(1243-1245)acG>acA	p.T415T	LRP10_uc001whe.3_Silent_p.T291T	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	415	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		TGTATGAGACGTGGGTGTGCG	0.572000														310			15		0	0	1	0	0
LRCH4	4034	broad.mit.edu	37	7	100174761	100174761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100174761G>A	uc003uvj.3	-	11	1365	c.1312C>T	c.(1312-1314)Ctc>Ttc	p.L438F	LRCH4_uc010lgz.3_Intron|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	438					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACAGCCCTGAGCCCTGGCTTC	0.632000														137			21		0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120569929	120569929	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120569929G>T	uc003yos.2	-	25	2666	c.2580C>A	c.(2578-2580)agC>agA	p.S860R	ENPP2_uc011lic.2_Missense_Mutation_p.S346R|ENPP2_uc003yor.2_Missense_Mutation_p.S443R|ENPP2_uc010mdd.2_Missense_Mutation_p.S833R|ENPP2_uc003yot.2_Missense_Mutation_p.S808R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	808					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CGTCCTCTGAGCTCTGCAATG	0.443000														144			23		2.89027e-11	3.28353e-11	1	1	0
MYT1	4661	broad.mit.edu	37	20	62838959	62838959	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62838959T>C	uc002yii.3	+	6	774	c.410T>C	c.(409-411)gTc>gCc	p.V137A	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	137					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V137V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGGAGCCCCGTCAAGTCCCAT	0.582000														215			60		0	0	1	0	0
RAB19	401409	broad.mit.edu	37	7	140111711	140111711	+	Missense_Mutation	SNP	G	A	A	rs146219058	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140111711G>A	uc010lni.2	+	2	437	c.239G>A	c.(238-240)cGc>cAc	p.R80H	RAB19_uc011krc.1_Missense_Mutation_p.R80H	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	80					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GAGCGCTTCCGCACCATCACC	0.582000														134			22		0	0	1	0	0
LARP1B	55132	broad.mit.edu	37	4	129043322	129043322	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:129043322A>T	uc003iga.3	+	10	1634	c.1503A>T	c.(1501-1503)gaA>gaT	p.E501D	LARP1B_uc003igc.3_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.E501D|LARP1B_uc003igb.1_Missense_Mutation_p.E216D	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	501							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAGAAGATGAAAACAAACACA	0.358000														124			19		0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155490440	155490440	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155490440G>T	uc003ioa.4	+	5	978	c.939G>T	c.(937-939)aaG>aaT	p.K313N	FGB_uc010ipv.3_Missense_Mutation_p.K254N	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	313	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGATGGGAAGAATTACTGTG	0.378000														164			15		3.52763e-06	3.73571e-06	1	1	0
DHX8	1659	broad.mit.edu	37	17	41585306	41585306	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41585306C>T	uc002idu.1	+	14	2311	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	DHX8_uc010wif.1_Silent_p.L656L|DHX8_uc010wig.2_Silent_p.L747L	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	747						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGTGGAAATACTGTACACAAA	0.428000														129			31		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182755097	182755097	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182755097C>A	uc003fle.3	-	12	1640	c.1503G>T	c.(1501-1503)aaG>aaT	p.K501N	MCCC1_uc010hxi.3_Intron|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.K384N|MCCC1_uc003flg.3_Missense_Mutation_p.K392N|MCCC1_uc011bqp.1_Missense_Mutation_p.K454N	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	501					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGCTGCAGCCTTCCGACTGA	0.512000														109			32		1.62565e-12	1.87665e-12	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175564991	175564991	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175564991G>A	uc003ity.1	-	9	1844	c.1341C>T	c.(1339-1341)taC>taT	p.Y447Y	GLRA3_uc003itz.1_Silent_p.Y432Y	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	447					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGATAACCCAGTAGAAAATAT	0.398000														134			25		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859904	96859904	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96859904C>A	uc010mrj.2	+	5	1158	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	PTPDC1_uc004auf.2_Missense_Mutation_p.D298E|PTPDC1_uc004aug.2_Missense_Mutation_p.D298E|PTPDC1_uc004auh.2_Missense_Mutation_p.D350E|PTPDC1_uc010mri.2_Missense_Mutation_p.D350E	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	298							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TGCTGCTGGACTTAGCGGAGA	0.463000														169			8		1.12685e-05	1.18529e-05	1	1	0
LSP1	4046	broad.mit.edu	37	11	1901374	1901374	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1901374G>T	uc001lui.3	+	1	286	c.111G>T	c.(109-111)caG>caT	p.Q37H	LSP1_uc001luj.3_Missense_Mutation_p.Q165H|LSP1_uc001luk.3_5'UTR|LSP1_uc001lul.3_5'UTR|LSP1_uc001lum.3_5'UTR	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.	37					cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		AGCAATGCCAGCATGAGAGAG	0.657000														104			22		7.45023e-12	8.53574e-12	1	1	0
EPX	8288	broad.mit.edu	37	17	56281654	56281654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56281654G>A	uc002ivq.3	+	11	2137	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	673					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R673Q(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TCCTTGTCTCGAATTATATGT	0.512000														138			28		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72551961	72551961	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72551961T>C	uc002auc.3	-	9	1257	c.798A>G	c.(796-798)ggA>ggG	p.G266G	PARP6_uc002aua.3_Silent_p.G111G|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Silent_p.G266G	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	266							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAACGAGGAATCCATACTCCA	0.493000														318			82		0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208551	53208551	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53208551C>A	uc002pzz.3	-	6	2074	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	ZNF611_uc010eqc.3_Missense_Mutation_p.R516I|ZNF611_uc010ydo.2_Missense_Mutation_p.R516I|ZNF611_uc010ydp.2_Missense_Mutation_p.R586I|ZNF611_uc010ydq.2_Missense_Mutation_p.R586I|ZNF611_uc010ydr.2_Missense_Mutation_p.R517I|ZNF611_uc002qaa.4_Missense_Mutation_p.R516I|ZNF611_uc021uyy.1_Missense_Mutation_p.R517I	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		ACTATGAACTCTATGATGGCA	0.438000														333			70		6.88731e-43	8.76618e-43	1	1	0
BCAN	63827	broad.mit.edu	37	1	156617305	156617305	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156617305G>A	uc001fpp.3	+	3	808	c.472G>A	c.(472-474)Gtc>Atc	p.V158I	BCAN_uc001fpo.3_Missense_Mutation_p.V158I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	158	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGGGGTCGTCTTTCTCTA	0.627000														106			23		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266283	38266283	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266283A>C	uc010abx.3	-	3	1322	c.1087T>G	c.(1087-1089)Ttt>Gtt	p.F363V	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.F363V|TRPC4_uc001uws.3_Missense_Mutation_p.F363V|TRPC4_uc010tey.2_Missense_Mutation_p.F363V|TRPC4_uc010abw.3_Missense_Mutation_p.F190V|TRPC4_uc010aby.3_Missense_Mutation_p.F363V	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	363					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AACTTGATAAATGGCTTCCTG	0.458000														79			15		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128844286	128844286	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128844286C>T	uc009zcp.3	-	19	2764	c.2764G>A	c.(2764-2766)Gtc>Atc	p.V922I	ARHGAP32_uc009zcq.2_Missense_Mutation_p.V882I|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Missense_Mutation_p.V573I	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	922					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GTACCAATGACTTCTGACACC	0.458000														107			31		0	0	1	0	0
AMD1	262	broad.mit.edu	37	6	111213405	111213405	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111213405T>C	uc003puk.1	+	5	792	c.470_splice	c.e5+1	p.W157_splice	AMD1_uc011eay.1_Splice_Site_p.W88_splice|AMD1_uc003pul.1_Splice_Site_p.W9_splice|AMD1_uc011eaz.1_Splice_Site_p.W128_splice|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	157					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	TTCTGACTGTTGGTATGTTTA	0.313000														211			52		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119003275	119003275	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119003275G>A	uc001pvp.3	+	6	990	c.746G>A	c.(745-747)cGc>cAc	p.R249H	HINFP_uc021qrj.1_Missense_Mutation_p.R249H|HINFP_uc001pvq.3_Missense_Mutation_p.R249H|HINFP_uc001pvr.3_Missense_Mutation_p.R2H	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	249					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCACATGCGCAACCATGGT	0.582000														213			52		0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70589061	70589061	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70589061G>A	uc002ezf.3	+	12	1873	c.1662G>A	c.(1660-1662)gtG>gtA	p.V554V		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	554					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGCGACAAGTGGTGATTGCCC	0.468000														172			43		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700166	136700166	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700166C>A	uc003vtf.1	+	3	1177	c.554C>A	c.(553-555)gCt>gAt	p.A185D	CHRM2_uc003vtg.1_Missense_Mutation_p.A185D|CHRM2_uc003vti.1_Missense_Mutation_p.A185D|CHRM2_uc003vtm.1_Missense_Mutation_p.A185D|CHRM2_uc003vtj.1_Missense_Mutation_p.A185D|CHRM2_uc003vtk.1_Missense_Mutation_p.A185D|CHRM2_uc003vtl.1_Missense_Mutation_p.A185D|CHRM2_uc003vtn.1_Missense_Mutation_p.A185D|CHRM2_uc003vto.1_Missense_Mutation_p.A185D|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.A185D	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	185					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCCAATGCTGCTGTCACCTTT	0.483000														133			30		2.36697e-06	2.51467e-06	1	1	0
SLC7A11	23657	broad.mit.edu	37	4	139163042	139163042	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:139163042C>A	uc021xrw.1	-	0	462	c.182G>T	c.(181-183)gGa>gTa	p.G61V		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	61					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	GATGAAGATTCCTGCTCCAAT	0.542000														131			33		8.16721e-17	9.7615e-17	1	1	0
BCO2	83875	broad.mit.edu	37	11	112084459	112084459	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:112084459G>A	uc001pnf.3	+	8	1324	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	BCO2_uc001pne.1_Missense_Mutation_p.A230T|BCO2_uc001png.3_Missense_Mutation_p.A330T|BCO2_uc001pnh.3_Missense_Mutation_p.A369T|BCO2_uc010rwt.2_Missense_Mutation_p.A298T|BCO2_uc009yyn.3_Missense_Mutation_p.A369T|BCO2_uc001pni.3_Missense_Mutation_p.A369T	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	403					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CCATAATTCAGCAGCCAAATC	0.408000														223			41		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209278	71209278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71209278G>A	uc001xmm.3	-	5	1357	c.1357C>T	c.(1357-1359)Cgg>Tgg	p.R453W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R190W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R147W|MAP3K9_uc001xml.3_Missense_Mutation_p.R453W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	453					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.R453L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		AGTGCAGCCCGCGTCAGCTCC	0.627000														91			19		0	0	1	0	0
SH3GL1	6455	broad.mit.edu	37	19	4400336	4400336	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4400336G>A	uc002maj.3	-	0	230	c.30C>T	c.(28-30)ttC>ttT	p.F10F	SH3GL1_uc002mak.3_Silent_p.F10F|SH3GL1_uc010xig.2_Silent_p.F10F|CHAF1A_uc002mal.3_5'Flank	NM_003025	NP_003016	Q99961	SH3G1_HUMAN	Homo sapiens SH3-domain GRB2-like 1 (SH3GL1), transcript variant 1, mRNA.	10	Membrane-binding amphipathic helix (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TCGCCTTGTAGAACTGCTTCT	0.771000			T	MLL	AL									79			12		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678515	87678515	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678515G>A	uc002fkd.3	+	1	1288	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	345					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ATCCTCGTCGGCGGCAAGCGC	0.677000														148			41		0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382676	68382676	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68382676G>A	uc022byl.1	-	0	406	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PJA1_uc004dxg.3_Intron|PJA1_uc004dxh.3_Nonsense_Mutation_p.R136*|PJA1_uc004dxi.3_Nonsense_Mutation_p.R81*|PJA1_uc011mpi.2_5'UTR	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	136							zinc ion binding	p.D136D(1)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGGCGGTCGCTCAACAGGC	0.522000														50			19		0	0	1	0	0
TFIP11	24144	broad.mit.edu	37	22	26902834	26902834	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26902834C>T	uc003acr.2	-	3	644	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TFIP11_uc003acs.2_Silent_p.A90A|TFIP11_uc003act.2_Silent_p.A90A	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	90					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGCCTCCTCCGCTGCCCCTT	0.517000														132			10		0	0	1	0	0
MLF2	8079	broad.mit.edu	37	12	6858017	6858017	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6858017C>T	uc010sfi.2	-	7	754	c.691G>A	c.(691-693)Gcc>Acc	p.A231T	MLF2_uc001qqp.3_Missense_Mutation_p.A231T|MLF2_uc009zey.1_Missense_Mutation_p.A231T	NM_005439	NP_005430	Q15773	MLF2_HUMAN	Homo sapiens myeloid leukemia factor 2 (MLF2), transcript variant 1, mRNA.	231					defense response	cytoplasm|nucleus	protein binding			kidney(2)|large_intestine(3)|lung(4)	9						CCCTGGATGGCCAGGCGGGGA	0.682000														175			33		0	0	1	0	0
CEACAM4	1089	broad.mit.edu	37	19	42132106	42132106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42132106C>T	uc010xwd.1	-	1	404	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	CEACAM4_uc002orh.1_Missense_Mutation_p.R98Q	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	98	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						TACTGTCTCTCGACCACTGTA	0.493000														260			84		0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51094994	51094994	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51094994C>T	uc021rsw.1	+	11	1606	c.1365C>T	c.(1363-1365)atC>atT	p.I455I	ATL1_uc001wyd.4_Silent_p.I455I|ATL1_uc001wyf.4_Silent_p.I455I|ATL1_uc001wye.4_Silent_p.I455I|ATL1_uc021rsx.1_Silent_p.I455I	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	455	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGTAGTCATCTTTATCACAT	0.398000														161			40		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51750948	51750948	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51750948G>T	uc010ufy.2	-	33	8196	c.7971C>A	c.(7969-7971)atC>atA	p.I2657I	DMXL2_uc002abd.3_Silent_p.I748I|DMXL2_uc002abf.3_Silent_p.I2656I|DMXL2_uc010bfa.3_Silent_p.I2020I	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2656						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTCCTTATGGATGACTTTCG	0.373000														98			16		4.14922e-12	4.76557e-12	1	1	0
SLC7A5	8140	broad.mit.edu	37	16	87874675	87874675	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87874675G>T	uc002fkm.3	-	2	823	c.751C>A	c.(751-753)Ctc>Atc	p.L251I		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	251					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TAGGCAAAGAGGCCGCTGTAT	0.522000														128			18		1.67942e-08	1.84125e-08	1	1	0
KANK2	25959	broad.mit.edu	37	19	11303796	11303796	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11303796C>T	uc002mqm.3	-	1	1039	c.960G>A	c.(958-960)ccG>ccA	p.P320P	KANK2_uc021upe.1_Silent_p.P320P|KANK2_uc002mqo.4_Silent_p.P320P|KANK2_uc002mqp.1_Silent_p.P129P|KANK2_uc002mqq.3_Silent_p.P320P	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	320										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGTCCGGCGGTGGCCAGG	0.726000														86			12		0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167850797	167850797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167850797G>A	uc003lzu.3	+	10	1627	c.1534G>A	c.(1534-1536)Gca>Aca	p.A512T	WWC1_uc003lzv.3_Missense_Mutation_p.A512T|WWC1_uc011den.2_Missense_Mutation_p.A512T|WWC1_uc003lzw.3_Missense_Mutation_p.A311T	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	512					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCCAGAAGGCAGAGGGAGG	0.657000														136			29		0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	182382	182382	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:182382G>A	uc003jak.2	+	17	3810	c.3760G>A	c.(3760-3762)Gct>Act	p.A1254T		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1254					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGGCACCCAGGCTGCAGTGTG	0.622000														56			19		0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100847801	100847801	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100847801A>G	uc010avx.3	+	1	633	c.540A>G	c.(538-540)agA>agG	p.R180R	WDR25_uc001yhn.3_Silent_p.R180R|WDR25_uc010avy.3_Non-coding_Transcript|WDR25_uc001yho.3_5'Flank|WDR25_uc021sbq.1_Silent_p.R172R	NM_001161476	NP_078791	Q64LD2	WDR25_HUMAN	Homo sapiens WD repeat domain 25 (WDR25), transcript variant 2, mRNA.	180										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTCCCAGAAGACTAAGACAGC	0.537000														236			67		0	0	1	0	0
RAB2A	5862	broad.mit.edu	37	8	61496780	61496780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61496780C>T	uc003xud.2	+	3	498	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RAB2A_uc011lef.2_Missense_Mutation_p.S43F	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	67					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGGCAAGAATCCTTTCGTTCC	0.378000														155			34		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43609350	43609350	+	Missense_Mutation	SNP	G	A	A	rs12653648		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43609350G>A	uc003joe.3	+	1	308	c.53G>A	c.(52-54)aGc>aAc	p.S18N	NNT_uc003jof.3_Missense_Mutation_p.S18N	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CCTCTACTTAGCAATTTGGGG	0.438000														73			10		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72071981	72071981	+	Silent	SNP	G	A	A	rs144906159	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72071981G>A	uc004ahh.2	-	6	1866	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	530	PID.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		p.N530D(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GTGTGTCGGCGTTCAGCACTT	0.483000														86			21		0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484336	36484336	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36484336G>T	uc002hpz.3	-	10	5137	c.5116C>A	c.(5116-5118)Ccc>Acc	p.P1706T		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1706						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCTCCCAGGGACAGATTTCT	0.532000														189			38		3.62531e-18	4.37168e-18	1	1	0
CXorf22	170063	broad.mit.edu	37	X	35989849	35989849	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35989849G>A	uc004ddj.3	+	11	2183	c.2117G>A	c.(2116-2118)aGg>aAg	p.R706K	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	706										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						TTAACCACCAGGGGTATAGCA	0.423000														92			5		0	0	1	0	0
BRD3	8019	broad.mit.edu	37	9	136907020	136907020	+	Silent	SNP	C	T	T	rs141189239		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136907020C>T	uc004cew.3	-	7	1457	c.1269G>A	c.(1267-1269)ccG>ccA	p.P423P	BRD3_uc004cex.2_Silent_p.P423P	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	423						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CAGGCAGCGCCGGTGCCTCCA	0.657000			T	C15orf55	lethal midline carcinoma of young people									58			11		0	0	1	0	0
PLAT	5327	broad.mit.edu	37	8	42039493	42039493	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42039493C>T	uc003xos.2	-	8	1060	c.851G>A	c.(850-852)cGc>cAc	p.R284H	PLAT_uc010lxf.1_Missense_Mutation_p.R201H|PLAT_uc010lxg.1_Intron|PLAT_uc003xot.2_Missense_Mutation_p.R238H|PLAT_uc011lcm.1_Missense_Mutation_p.R195H|PLAT_uc011lcn.1_Missense_Mutation_p.R158H	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	284	Kringle 2.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CGTCAGCCTGCGGTTCTTCAG	0.522000														78			8		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80101316	80101316	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80101316G>A	uc010ysh.2	+	4	705	c.700G>A	c.(700-702)Gcc>Acc	p.A234T	CTNNA2_uc010yse.2_Missense_Mutation_p.A234T|CTNNA2_uc010ysf.2_Missense_Mutation_p.A234T|CTNNA2_uc010ysg.2_Missense_Mutation_p.A234T	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	234					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.V233I(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						CCCAGATGTCGCCGCTACGAG	0.577000														146			42		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59217362	59217362	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59217362C>T	uc010dps.1	+	9	1952	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D	CDH20_uc002lif.2_Silent_p.D594D	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	600	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GTGATGACGACGGCCACGTCA	0.587000														102			24		0	0	1	0	0
EFCAB11	90141	broad.mit.edu	37	14	90263636	90263636	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90263636C>A	uc001xxt.3	-	5	528	c.443G>T	c.(442-444)aGc>aTc	p.S148I	EFCAB11_uc001xxs.3_Missense_Mutation_p.S124I	NM_145231	NP_660274	Q9BUY7	EFC11_HUMAN	Homo sapiens EF-hand calcium binding domain 11 (EFCAB11), mRNA.	148	EF-hand 3.						calcium ion binding			large_intestine(1)|lung(1)	2						GTCTCTAAAGCTGACGTGACC	0.388000														87			6		0.217242	0.217542	1	1	0
GTF2E1	2960	broad.mit.edu	37	3	120469705	120469705	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120469705G>A	uc003edz.4	+	1	420	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	102	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		TTGTTAATGTGGTAAAATATA	0.413000														82			16		0	0	1	0	0
PCMTD2	55251	broad.mit.edu	37	20	62899295	62899295	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62899295C>A	uc002yil.4	+	4	838	c.638C>A	c.(637-639)gCt>gAt	p.A213D	PCMTD2_uc002yim.4_Intron	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	213						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAGATTCTTGCTGTTTCTTTT	0.383000														65			18		2.35188e-11	2.67805e-11	1	1	0
CERS5	91012	broad.mit.edu	37	12	50536960	50536960	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50536960G>T	uc001rwd.4	-	2	348	c.331C>A	c.(331-333)Ctg>Atg	p.L111M	CERS5_uc001rwc.3_Missense_Mutation_p.L30M|CERS5_uc001rwe.4_Missense_Mutation_p.L52M|CERS5_uc001rwf.4_Non-coding_Transcript|CERS5_uc010smq.1_5'UTR	NM_147190	NP_671723	Q8N5B7	CERS5_HUMAN	Homo sapiens ceramide synthase 5 (CERS5), mRNA.	111					ceramide biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TGCTTTGACAGGCCCTCCAGC	0.483000														238			54		4.17463e-26	5.21157e-26	1	1	0
MPZ	4359	broad.mit.edu	37	1	161277072	161277072	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161277072G>A	uc001gaf.4	-	1	277	c.210C>T	c.(208-210)ccC>ccT	p.P70P		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	70	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity	p.S69*(1)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGCCCCCTTCGGGCTGGTAGC	0.552000														94			17		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117704623	117704623	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117704623C>T	uc003pxp.1	-	15	2552	c.2353G>A	c.(2353-2355)Gtg>Atg	p.V785M	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	785					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATAGCTTCACGTGGGTAACA	0.418000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									206			44		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255298	51255298	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255298G>A	uc021vhh.1	-	0	1035	c.114C>T	c.(112-114)ggC>ggT	p.G38G	NRXN1_uc021vhg.1_Silent_p.G38G|NRXN1_uc021vhi.1_Silent_p.G38G|NRXN1_uc021vhj.1_Silent_p.G38G|NRXN1_uc021vhk.1_Silent_p.G38G	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	38	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCGTCCATTGGCCCTCGGCGC	0.677000														18			9		0	0	1	0	0
C3orf32	51066	broad.mit.edu	37	3	8672596	8672596	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8672596C>T	uc011atg.2	-	5	460	c.420G>A	c.(418-420)ccG>ccA	p.P140P	C3orf32_uc003bqz.3_Silent_p.P118P|C3orf32_uc003bqt.3_Silent_p.P67P|C3orf32_uc003bqu.3_Silent_p.P118P|C3orf32_uc003bqv.3_Silent_p.P67P|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Silent_p.P118P	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	118										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						CGCCTCTTTGCGGCCCATCCA	0.532000														116			19		0	0	1	0	0
YES1	7525	broad.mit.edu	37	18	756664	756664	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:756664C>A	uc002kky.3	-	1	385	c.164G>T	c.(163-165)aGc>aTc	p.S55I	YES1_uc002kkz.3_Missense_Mutation_p.S55I	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	55					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGAAAGACTGCTGAAATTAAC	0.488000														227			51		9.22156e-22	1.1337e-21	1	1	0
CNTN4	152330	broad.mit.edu	37	3	2928774	2928774	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:2928774G>T	uc003bpc.3	+	9	1145	c.806G>T	c.(805-807)aGg>aTg	p.R269M	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.R269M|CNTN4_uc003bpd.1_Missense_Mutation_p.R269M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	269	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAATAGCAAGGAAAGCCAGA	0.408000														48			16		1.15088e-07	1.24477e-07	1	1	0
KLK13	26085	broad.mit.edu	37	19	51563271	51563271	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51563271T>C	uc002pvn.3	-	2	362	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	KLK13_uc002pvl.3_Intron|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Intron|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Intron|KLK13_uc002pvq.3_Intron|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.I107V	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	107	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGTGGGGGATAGAGTGGACA	0.582000														152			27		0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	53007820	53007820	+	Nonsense_Mutation	SNP	C	A	A	rs144817587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53007820C>A	uc001vgs.3	-	5	539	c.505G>T	c.(505-507)Gaa>Taa	p.E169*	VPS36_uc001vgq.3_Nonsense_Mutation_p.E111*	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	169					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.E169K(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTGTCAGTTTCTTTTCTTTTT	0.343000														53			13		1.49906e-05	1.573e-05	1	1	0
PWP1	11137	broad.mit.edu	37	12	108082504	108082504	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082504G>A	uc001tmo.1	+	2	331	c.244G>A	c.(244-246)Gag>Aag	p.E82K	PWP1_uc001tmn.1_Non-coding_Transcript	NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	82					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGGTGACCCAGAGGATGACAG	0.522000														73			17		0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504476	64504476	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64504476C>T	uc009ypu.3	-	8	1071	c.844G>A	c.(844-846)Gcg>Acg	p.A282T	RASGRP2_uc001oat.3_Missense_Mutation_p.A184T|RASGRP2_uc001oau.3_Missense_Mutation_p.A137T|RASGRP2_uc009ypv.3_Missense_Mutation_p.A282T|RASGRP2_uc009ypw.3_Missense_Mutation_p.A282T	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	282	Ras-GEF.				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						TTGCCTGTCGCCGTCACTAGT	0.607000														61			19		0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	10102688	10102688	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10102688G>A	uc003wsx.3	+	2	483	c.286G>A	c.(286-288)Gca>Aca	p.A96T	MSRA_uc011kwx.2_Intron|MSRA_uc011kwy.1_Missense_Mutation_p.A53T|MSRA_uc003wsy.3_Missense_Mutation_p.A30T|MSRA_uc003wsz.3_Missense_Mutation_p.A53T	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	96					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AGTTGGTTTTGCAGGAGGCTA	0.373000														101			20		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981304	61981304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981304G>A	uc002yes.2	-	4	1637	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	CHRNA4_uc002yet.1_Missense_Mutation_p.R311W|CHRNA4_uc010gke.1_Missense_Mutation_p.R416W|CHRNA4_uc002yev.1_Missense_Mutation_p.R311W|CHRNA4_uc010gkf.1_Missense_Mutation_p.R311W	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	487					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TGGATGCTCCGAGACCGGCAC	0.701000														30			9		0	0	1	0	0
LIMA1	51474	broad.mit.edu	37	12	50575804	50575804	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50575804G>A	uc001rwj.4	-	9	1331	c.1157C>T	c.(1156-1158)gCa>gTa	p.A386V	LIMA1_uc001rwg.4_Missense_Mutation_p.A84V|LIMA1_uc001rwh.4_Missense_Mutation_p.A225V|LIMA1_uc001rwi.4_Missense_Mutation_p.A227V|LIMA1_uc001rwk.4_Missense_Mutation_p.A387V|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	386					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGTCTCTCTTGCAGGTGCCTG	0.468000														115			9		0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961432	34961432	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:34961432G>A	uc004ddi.2	+	0	520	c.484G>A	c.(484-486)Gct>Act	p.A162T		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	162										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GCTGGAGGACGCTTGGGCTCG	0.587000														90			23		0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46233202	46233202	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46233202G>A	uc001ros.1	+	10	1421	c.1421G>A	c.(1420-1422)aGt>aAt	p.S474N	ARID2_uc001ror.3_Missense_Mutation_p.S474N|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.S101N|ARID2_uc001rot.1_Missense_Mutation_p.S120N	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	474					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAAGTTCCAGTCATCAAATG	0.403000			"""N, S, F"""		hepatocellular carcinoma									152			37		0	0	1	0	0
TAPBPL	55080	broad.mit.edu	37	12	6567973	6567973	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6567973G>T	uc001qog.4	+	4	1305	c.1067G>T	c.(1066-1068)aGg>aTg	p.R356M	TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	356	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TCCAGCCTCAGGCAAAGCGTG	0.597000														120			30		2.16457e-27	2.71173e-27	1	1	0
PTK7	5754	broad.mit.edu	37	6	43097480	43097480	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43097480C>A	uc011dve.1	+	2	449	c.407C>A	c.(406-408)cCt>cAt	p.P136H	PTK7_uc003oub.1_Missense_Mutation_p.P128H|PTK7_uc003ouc.1_Missense_Mutation_p.P128H|PTK7_uc003oud.1_Missense_Mutation_p.P128H|PTK7_uc003oue.1_Missense_Mutation_p.P128H|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_5'Flank|PTK7_uc003oua.3_Missense_Mutation_p.P128H	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	128	Ig-like C2-type 2.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGGCAGGTCCTGTGGTCCTG	0.612000											OREG0017449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		131			17		1.02788e-11	1.17486e-11	1	1	0
PCNT	5116	broad.mit.edu	37	21	47851775	47851775	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47851775C>T	uc002zji.4	+	37	8504	c.8397C>T	c.(8395-8397)tcC>tcT	p.S2799S	PCNT_uc002zjj.3_Silent_p.S2681S	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2799					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGGAGAAGTCCCGGGTGGTGG	0.602000														61			17		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38484883	38484883	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38484883C>T	uc010ive.1	-	17	2917	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	LIFR_uc003jli.2_Missense_Mutation_p.R862Q	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	862					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.R862*(1)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TTACCATTCTCGTTTCCGATA	0.363000			T	PLAG1	salivary adenoma									36			7		0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8354153	8354153	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8354153G>A	uc002glj.3	+	5	779	c.582G>A	c.(580-582)tcG>tcA	p.S194S	NDEL1_uc002gli.3_Silent_p.S194S	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog (A. nidulans)-like 1 (NDEL1), transcript variant 2, mRNA.	194	Interaction with CENPF.|Interaction with NEFL (By similarity).|Interaction with YWHAE (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						CTAGAAAGTCGGCTCCTAGCT	0.468000														65			23		0	0	1	0	0
FOXB2	442425	broad.mit.edu	37	9	79634658	79634658	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79634658G>A	uc004ako.1	+	0	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	30					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|lung(8)|ovary(1)	10						CCAGCACTCGGCCGAGAAGAT	0.627000														77			15		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101136544	101136544	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101136544A>C	uc003dut.3	-	4	486	c.375T>G	c.(373-375)tgT>tgG	p.C125W	SENP7_uc003duu.3_Missense_Mutation_p.C125W|SENP7_uc003duv.3_Missense_Mutation_p.C92W|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	125					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTGGCATCACATAAATTAG	0.398000														135			35		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3144596	3144596	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3144596A>G	uc021xkv.1	+	22	3194	c.3049A>G	c.(3049-3051)Acc>Gcc	p.T1017A		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	1017					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AATCACATCAACCACCAGAGC	0.383000														149			33		0	0	1	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71532675	71532675	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71532675C>T	uc004agu.3	+	9	1288	c.983_splice	c.e9+1	p.T328_splice	PIP5K1B_uc011lrq.2_Splice_Site_p.T328_splice|PIP5K1B_uc004agv.3_Splice_Site	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	328	PIPK.					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)		AACCCAGACACGTAAGTGCAG	0.517000														101			20		0	0	1	0	0
MAGIX	79917	broad.mit.edu	37	X	49022434	49022434	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49022434G>T	uc010nin.1	+	5	748	c.701G>T	c.(700-702)aGc>aTc	p.S234I	MAGIX_uc004dmt.2_Missense_Mutation_p.S153I|MAGIX_uc010nio.1_Missense_Mutation_p.S158I|MAGIX_uc004dmu.2_Missense_Mutation_p.S175I|MAGIX_uc004dmw.2_Missense_Mutation_p.S162I	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	234																	CCAGATCGCAGCCCAGATCCT	0.607000														103			26		2.12542e-12	2.45163e-12	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10464701	10464701	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10464701C>A	uc003wtc.3	-	3	7136	c.6907G>T	c.(6907-6909)Gca>Tca	p.A2303S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2303					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CAAGAGGATGCTCTGGAGGAG	0.607000														485			99		2.8152e-64	3.5973e-64	1	1	0
EIF3H	8667	broad.mit.edu	37	8	117668207	117668207	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117668207C>T	uc003yob.3	-	6	1404	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	EIF3H_uc003yoa.3_Missense_Mutation_p.E199K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	199					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					GGCACTTCTTCAAACATGTAC	0.338000														118			14		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237729908	237729908	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237729908C>A	uc001hyl.1	+	27	3376	c.3256C>A	c.(3256-3258)Cga>Aga	p.R1086R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1086	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAAAGGTTCCGAATCTTCCG	0.542000														104			38		4.62619e-21	5.66726e-21	1	1	0
TBX19	9095	broad.mit.edu	37	1	168260462	168260462	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168260462C>T	uc001gfl.3	+	1	319	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	TBX19_uc001gfj.4_Silent_p.L21L	NM_005149	NP_005140	O60806	TBX19_HUMAN	Homo sapiens T-box 19 (TBX19), mRNA.	90					anatomical structure morphogenesis	nucleus	DNA binding	p.L89F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					GTACTCCCTCCTGCTGGACTT	0.552000														273			93		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49969029	49969029	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49969029C>T	uc002pnt.3	+	12	1719	c.1603C>T	c.(1603-1605)Cgt>Tgt	p.R535C	ALDH16A1_uc010yar.2_Missense_Mutation_p.R484C|ALDH16A1_uc010yas.2_Missense_Mutation_p.R370C|ALDH16A1_uc010yat.2_Missense_Mutation_p.R372C	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	535							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		CGTTGGGGGCCGTTTCCAGGC	0.642000														148			43		0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43783485	43783485	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43783485C>T	uc002zax.1	-	1	157	c.117G>A	c.(115-117)caG>caA	p.Q39Q		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	39	P-type.				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						AACCACAATTCTGTCTTTCAC	0.507000														64			19		0	0	1	0	0
HLA-DPA1	3113	broad.mit.edu	37	6	33037542	33037542	+	Missense_Mutation	SNP	C	A	A	rs72558171		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33037542C>A	uc003ocs.2	-	1	329	c.222G>T	c.(220-222)tgG>tgT	p.W74C	HLA-DPA1_uc021ywg.1_Missense_Mutation_p.W74C|HLA-DPA1_uc021ywh.1_Missense_Mutation_p.W74C|HLA-DPA1_uc010juk.3_Missense_Mutation_p.W74C	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	74	Alpha-1.		W -> C (in allele DPA1*01:10; dbSNP:rs72558171).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						CCTCCAGATGCCAGACGGTCT	0.468000														85			21		1.2644e-06	1.3491e-06	1	1	0
AGAP7	653268	broad.mit.edu	37	10	51465483	51465483	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:51465483C>T	uc001jio.3	-	6	1099	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	325	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GCCAATGTGGCTAGGGATGGC	0.463000														362			90		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468118	61468118	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61468118G>A	uc002ljl.3	+	6	712	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	SERPINB7_uc002ljm.3_Missense_Mutation_p.A206T|SERPINB7_uc010xet.2_Missense_Mutation_p.A189T|SERPINB7_uc010dqg.3_Missense_Mutation_p.A206T	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	206					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAAGGCAGTCGCCATGATGCA	0.368000														158			19		0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135051472	135051472	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135051472C>T	uc010quy.1	+	0	65	c.54C>T	c.(52-54)ggC>ggT	p.G18G		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	18					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCAGCTTTGGCTCCGTGGACT	0.726000														28			8		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131196124	131196124	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131196124C>T	uc003vqw.4	-	1	427	c.169G>A	c.(169-171)Gct>Act	p.A57T	PODXL_uc003vqx.4_Missense_Mutation_p.A57T	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	57	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GTATCTGTAGCCATGATGGTG	0.512000														168			29		0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92119135	92119135	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92119135A>G	uc003uly.3	-	21	3625	c.3529T>C	c.(3529-3531)Tta>Cta	p.L1177L	PEX1_uc011khr.2_Silent_p.L969L|PEX1_uc010ley.3_Silent_p.L1120L|PEX1_uc011khs.2_Silent_p.L855L	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1177					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCTGTCCTTAACACTGGAGGC	0.473000														79			18		0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241757917	241757917	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241757917G>T	uc001hza.3	-	3	1167	c.1022C>A	c.(1021-1023)gCt>gAt	p.A341D	KMO_uc009xgp.3_3'UTR|OPN3_uc001hzb.3_Non-coding_Transcript|OPN3_uc001hzc.3_Non-coding_Transcript	NM_014322	NP_055137	Q9H1Y3	OPN3_HUMAN	Homo sapiens opsin 3 (OPN3), mRNA.	341					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTCACTTCCAGCTGCTGGTAG	0.463000														198			46		2.77807e-22	3.42272e-22	1	1	0
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35223537C>T	uc001bxu.3	+	1	706	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB5_uc021okz.1_Silent_p.L202L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	202					cell communication|epidermis development	connexon complex|integral to membrane		p.L202F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547000														100			37		0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43705430	43705430	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43705430T>G	uc001zrs.3	-	23	5325	c.5177A>C	c.(5176-5178)aAg>aCg	p.K1726T	TP53BP1_uc010udp.2_Missense_Mutation_p.K1724T|TP53BP1_uc001zrq.4_Missense_Mutation_p.K1729T|TP53BP1_uc001zrr.4_Missense_Mutation_p.K1731T|TP53BP1_uc001zrp.3_Missense_Mutation_p.K143T	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1726	BRCT 1.				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AAACAAGGTCTTGTTGAGAGG	0.562000								Other conserved DNA damage response genes						70			20		0	0	1	0	0
FGL1	2267	broad.mit.edu	37	8	17726143	17726143	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17726143T>G	uc003wye.3	-	8	1509	c.843A>C	c.(841-843)agA>agC	p.R281S	FGL1_uc003wxx.3_Missense_Mutation_p.R231S|FGL1_uc003wxy.3_Missense_Mutation_p.R231S|FGL1_uc003wya.3_Missense_Mutation_p.R231S|FGL1_uc003wyb.3_Missense_Mutation_p.R231S	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	231	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TGAATTTCATTCTTTGGTGAC	0.453000														164			47		0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52234790	52234790	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52234790G>A	uc001vfp.3	+	1	536	c.196G>A	c.(196-198)Gca>Aca	p.A66T	WDFY2_uc010ads.1_Missense_Mutation_p.A66T|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	66							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CGTATACCATGCAATGCCTTG	0.393000														137			8		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62193938	62193938	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62193938C>T	uc002yfm.2	-	8	7129	c.6237G>A	c.(6235-6237)ccG>ccA	p.P2079P	PRIC285_uc002yfl.1_Silent_p.P1510P	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2079					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCACCTCTTCCGGAACCTTCT	0.662000														34			5		0	0	1	0	0
STXBP6	29091	broad.mit.edu	37	14	25288317	25288317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:25288317G>A	uc001wpu.3	-	4	1250	c.535C>T	c.(535-537)Cga>Tga	p.R179*	STXBP6_uc001wpv.3_Nonsense_Mutation_p.R179*|STXBP6_uc001wpw.3_Nonsense_Mutation_p.R179*|STXBP6_uc001wpx.1_Non-coding_Transcript|STXBP6_uc001wpt.3_Nonsense_Mutation_p.R77*	NM_014178	NP_054897	Q8NFX7	STXB6_HUMAN	Homo sapiens syntaxin binding protein 6 (amisyn) (STXBP6), mRNA.	179	v-SNARE coiled-coil homology.				vesicle-mediated transport	cytoplasm|integral to membrane				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		CGGCCTAATCGCTCTCCACGC	0.567000														263			62		0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	531366	531366	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:531366G>T	uc010cjo.2	-	8	940	c.793C>A	c.(793-795)Ctg>Atg	p.L265M	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.L236M|VPS53_uc002frn.2_Missense_Mutation_p.L265M|VPS53_uc002fro.2_Missense_Mutation_p.L67M|VPS53_uc010cjp.1_Intron	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	265					protein transport	Golgi apparatus|endosome membrane				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TACTCTGACAGATGCTGTTTA	0.358000														35			9		0.00621372	0.00630477	1	1	0
CNOT4	4850	broad.mit.edu	37	7	135095279	135095279	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135095279C>T	uc003vsv.2	-	6	1138	c.807G>A	c.(805-807)ctG>ctA	p.L269L	CNOT4_uc011kpy.2_Silent_p.L269L|CNOT4_uc011kpz.2_Silent_p.L269L|CNOT4_uc003vst.3_Silent_p.L269L|CNOT4_uc003vss.3_Silent_p.L269L|CNOT4_uc003vsu.2_Silent_p.L269L	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	269					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CATACCTCTGCAGTGGTGTCA	0.318000														81			8		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151891109	151891109	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151891109G>A	uc003wla.3	-	30	4864	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S	MLL3_uc003wkz.3_Missense_Mutation_p.P610S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1549					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTGTGTATTGGCAACAGCTGT	0.413000			N		medulloblastoma									135			24		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4945601	4945601	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4945601C>T	uc002cyd.1	-	9	1179	c.1089G>A	c.(1087-1089)gaG>gaA	p.E363E		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	363					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						TCACATCCAGCTCCCGCAGCA	0.657000														173			8		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059749	113059749	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059749C>T	uc001ecb.3	+	3	1203	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	WNT2B_uc001eca.3_Missense_Mutation_p.R211W|WNT2B_uc009wgg.3_Missense_Mutation_p.R138W	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	230					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGCTGTGCGGCGGTTTCT	0.562000														145			36		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4747971	4747971	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4747971C>T	uc003bqc.3	+	35	5083	c.4733C>T	c.(4732-4734)gCc>gTc	p.A1578V	ITPR1_uc021wsi.1_Missense_Mutation_p.A1584V|ITPR1_uc021wsj.1_Missense_Mutation_p.A1569V|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1593				AIAIPVDLDSQVNNLFLKSHSIVQK -> HCHSRGPGQPSQ QPLSQVPQHCAE (in Ref. 6; AAD14386).	activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCCCGCAATGCCGCACGCAGG	0.527000														80			16		0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8115837	8115837	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8115837G>A	uc001ijz.3	+	5	1743	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	GATA3_uc001ika.3_Missense_Mutation_p.A395T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	395					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A395fs*54(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TAACCCGGCCGCCCTCTCCAG	0.562000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""							192			57		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37059079	37059079	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37059079G>A	uc003jkl.4	+	43	7996	c.7497G>A	c.(7495-7497)agG>agA	p.R2499R	NIPBL_uc003jkk.4_Silent_p.R2499R|NIPBL_uc003jkn.3_Silent_p.R192R	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2499					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAGTTTCCAGGCCTCGGAAGT	0.378000														93			17		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51871966	51871966	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51871966C>A	uc002xwo.3	+	1	2856	c.1969C>A	c.(1969-1971)Ctg>Atg	p.L657M	TSHZ2_uc021wex.1_Missense_Mutation_p.L654M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	657					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGAGGAGAAGCTGATGAAAGA	0.597000														130			20		0.000132079	0.000137	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20588595	20588595	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20588595C>T	uc001ytg.3	-	26	4175	c.3466G>A	c.(3466-3468)Gcc>Acc	p.A1156T	HERC2P3_uc010tyx.1_Non-coding_Transcript					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TAATTTGAGGCTGTTGCATTT	0.423000														65			17		0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125627791	125627791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125627791G>A	uc010mwc.1	-	9	1712	c.1471C>T	c.(1471-1473)Cca>Tca	p.P491S	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.P491S|RC3H2_uc004bne.4_Missense_Mutation_p.P491S	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	491						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TTTGTACTTGGAACAATTTTC	0.403000														115			15		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161518151	161518151	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161518151G>A	uc003qtn.3	+	15	3609	c.3467G>A	c.(3466-3468)cGa>cAa	p.R1156Q	MAP3K4_uc010kkc.1_Missense_Mutation_p.R1152Q|MAP3K4_uc003qto.3_Missense_Mutation_p.R1156Q|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R609Q|MAP3K4_uc003qtp.3_Missense_Mutation_p.R142Q	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1156					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R1156Q(3)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAGGTACCTCGATGCCATAGT	0.468000														106			17		0	0	1	0	0
CCDC25	55246	broad.mit.edu	37	8	27605688	27605688	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27605688G>A	uc003xgc.3	-	6	570	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_Missense_Mutation_p.R85C|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Non-coding_Transcript|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	153										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CTCTCTTCACGATCTCTGCAT	0.403000														109			19		0	0	1	0	0
MAGT1	84061	broad.mit.edu	37	X	77131009	77131009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77131009C>T	uc004fof.3	-	1	346	c.284G>A	c.(283-285)cGc>cAc	p.R95H	MAGT1_uc004fog.4_Non-coding_Transcript|MAGT1_uc004ect.4_Missense_Mutation_p.R95H	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	63					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						TTTCACAAGGCGACGGAACTT	0.418000														217			75		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33988633	33988633	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33988633C>A	uc001zhi.3	+	38	6145	c.6075C>A	c.(6073-6075)cgC>cgA	p.R2025R	RYR3_uc010bar.3_Silent_p.R2025R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2025	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCCAAATCCGCTCCCTCCTCA	0.577000														108			19		6.49762e-13	7.53005e-13	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170468	214170468	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214170468C>A	uc001hkh.3	+	1	862	c.590C>A	c.(589-591)tCt>tAt	p.S197Y	PROX1_uc001hkg.1_Missense_Mutation_p.S197Y	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	197					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GCCCCGCAGTCTGTGAGTCCC	0.512000														118			16		6.72482e-11	7.60803e-11	1	1	0
MSH3	4437	broad.mit.edu	37	5	80064769	80064769	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80064769C>T	uc003kgz.3	+	14	2453	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	734					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCAAGAAATACGAAAAATACT	0.318000								Mismatch excision repair (MMR)						46			13		0	0	1	0	0
KATNB1	10300	broad.mit.edu	37	16	57789369	57789369	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57789369A>G	uc002eml.1	+	15	1903	c.1529A>G	c.(1528-1530)gAc>gGc	p.D510G		NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN	Homo sapiens katanin p80 (WD repeat containing) subunit B 1 (KATNB1), mRNA.	510	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AAGAACCTGGACACTGTGCGG	0.657000														207			40		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915978	26915978	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26915978C>T	uc003jgs.1	-	2	452	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CDH9_uc010iug.3_Missense_Mutation_p.D95N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	95	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAGCCCCATCTCCTGTTAGT	0.353000														114			23		0	0	1	0	0
DCLK1	9201	broad.mit.edu	37	13	36700099	36700099	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36700099A>G	uc001uvf.3	-	1	459	c.176T>C	c.(175-177)gTt>gCt	p.V59A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	59	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATAGAAACGAACTTTCTTGGC	0.582000														163			45		0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151907104	151907104	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151907104C>T	uc003qol.3	+	6	1262	c.1173C>T	c.(1171-1173)ctC>ctT	p.L391L		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	Homo sapiens chromosome 6 open reading frame 97 (C6orf97), mRNA.	391																	AGAAAGCTCTCCAGAGGGCCC	0.493000														29			17		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	418966	418966	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:418966T>C	uc001lpi.2	-	20	2043	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.H346R|ANO9_uc010qvv.1_Missense_Mutation_p.H509R	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	653						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGACAGGCTGTGGTTGACGTA	0.622000														259			56		0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57913875	57913875	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57913875C>T	uc002aei.3	+	3	519	c.388C>T	c.(388-390)Cga>Tga	p.R130*	GCOM1_uc002aej.3_Nonsense_Mutation_p.R130*|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Intron|GCOM1_uc002aem.3_Nonsense_Mutation_p.R130*|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Nonsense_Mutation_p.R130*	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	130					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						ACAGAAGATTCGACAGCTCAC	0.473000														85			22		0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503392	140503392	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140503392G>T	uc003lip.1	+	0	1812	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	604	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTCGTACCAGCTGCTCAAGG	0.716000														318			54		6.3091e-27	7.89618e-27	1	1	0
PKHD1L1	93035	broad.mit.edu	37	8	110509385	110509385	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110509385G>T	uc003yne.3	+	64	10587	c.10483G>T	c.(10483-10485)Gag>Tag	p.E3495*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3495					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GCAGACCACAGAGAGTGTGCA	0.328000										HNSCC(38;0.096)				97			12		2.27111e-07	2.44751e-07	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186113795	186113795	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186113795T>G	uc001grq.1	+	90	14455	c.14226T>G	c.(14224-14226)agT>agG	p.S4742R	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.S311R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4742	TSP type-1 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCGAAGGGAGTGATGTCCAGA	0.478000														140			33		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115904338	115904338	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115904338T>G	uc001lbb.1	-	5	1791	c.1139A>C	c.(1138-1140)aAa>aCa	p.K380T	C10orf118_uc009xyd.1_5'UTR|C10orf118_uc009xye.1_Non-coding_Transcript|C10orf118_uc001lbc.1_Missense_Mutation_p.K380T	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	380										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		TTCCTTTAATTTGTCTATTTC	0.299000														77			12		0	0	1	0	0
MKS1	54903	broad.mit.edu	37	17	56292170	56292170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56292170G>A	uc002ivr.2	-	4	522	c.447C>T	c.(445-447)agC>agT	p.S149S	MKS1_uc010wnq.2_Intron|MKS1_uc021uam.1_Silent_p.S139S	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	149					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCACCTCGCTGGCTGCAG	0.592000														40			5		0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675171	21675171	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:21675171C>T	uc004czz.1	-	0	1278	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	246										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TTGACCCGGGCGGGCAGCACG	0.682000														56			22		0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395064	115395064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:115395064G>A	uc003ebr.2	+	2	1017	c.343G>A	c.(343-345)Gag>Aag	p.E115K	GAP43_uc003ebq.2_Missense_Mutation_p.E79K	NM_001130064	NP_001123536	P17677	NEUM_HUMAN	Homo sapiens growth associated protein 43 (GAP43), transcript variant 1, mRNA.	79					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	p.E79Q(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CGATGGGGTGGAGAAGAAGGG	0.537000														124			34		0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103141507	103141507	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103141507C>A	uc002tbz.4	+	9	2300	c.1843C>A	c.(1843-1845)Ctc>Atc	p.L615I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	615					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAAATACAACCTCAAACCCCA	0.488000														303			112		5.19266e-41	6.60498e-41	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18044339	18044339	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18044339G>T	uc021trm.1	+	20	5632	c.5413G>T	c.(5413-5415)Ggt>Tgt	p.G1805C	MYO15A_uc021trl.1_Missense_Mutation_p.G1803C	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1805	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACAGGAGCCAGGTCTCTTTGA	0.542000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			19		8.00594e-06	8.44607e-06	1	1	0
AMFR	267	broad.mit.edu	37	16	56437031	56437031	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56437031C>T	uc002eiy.3	-	7	1046	c.841_splice	c.e7-1	p.L281_splice	AMFR_uc002eix.3_Splice_Site	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	281					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGCCAAATAACTTAGAGAGAA	0.468000														111			17		0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10603427	10603427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10603427C>T	uc010rcc.1	-	18	2733	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.A775T|MRVI1_uc001miw.2_Missense_Mutation_p.A774T|MRVI1_uc001mix.3_Missense_Mutation_p.A468T|MRVI1_uc001miz.2_Missense_Mutation_p.A692T|MRVI1_uc010rcd.1_Missense_Mutation_p.A577T|MRVI1_uc009ygd.1_Missense_Mutation_p.A468T|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	756	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTGCTGTAGGCTTCTTCCTCC	0.562000														122			34		0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31844154	31844154	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31844154G>A	uc001wrf.4	-	11	1914	c.1729C>T	c.(1729-1731)Cac>Tac	p.H577Y	HEATR5A_uc010ami.3_Missense_Mutation_p.H182Y|HEATR5A_uc001wrg.1_Missense_Mutation_p.H166Y|HEATR5A_uc010tpk.1_Missense_Mutation_p.H577Y	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	571							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAGCAAGGTGATGGCTAACA	0.413000														24			9		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4382440	4382440	+	Silent	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4382440C>G	uc002cwc.1	+	0	225	c.159C>G	c.(157-159)ggC>ggG	p.G53G		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	53	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GCTCTCCAGGCTCCCCGCCCT	0.652000														55			19		0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150672988	150672988	+	Missense_Mutation	SNP	G	A	A	rs150561602	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150672988G>A	uc003ltx.2	-	3	760	c.341C>T	c.(340-342)gCc>gTc	p.A114V	SLC36A3_uc003ltv.2_Missense_Mutation_p.A58V|SLC36A3_uc003ltw.2_Missense_Mutation_p.A114V	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	114						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACATCGTGGCCTCTCCATA	0.438000														42			7		0	0	1	0	0
SCNN1D	6339	broad.mit.edu	37	1	1226291	1226291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1226291C>T	uc001adt.1	+	15	2160	c.1934C>T	c.(1933-1935)aCg>aTg	p.T645M	SCNN1D_uc001adu.1_Missense_Mutation_p.T481M|SCNN1D_uc001adw.2_Missense_Mutation_p.T547M|SCNN1D_uc001adv.2_Missense_Mutation_p.T481M|SCNN1D_uc001adx.2_Missense_Mutation_p.T270M	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCTGGCCACGCTAGGTGAA	0.672000														34			6		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31647447	31647447	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31647447T>C	uc001wrc.1	-	2	643	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	52					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGTAAGAAAGTGCGAGGAGGA	0.338000														73			16		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016155	106016155	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016155T>G	uc004eml.3	+	1	747	c.497T>G	c.(496-498)aTt>aGt	p.I166S	RNF128_uc004emk.3_Missense_Mutation_p.I140S	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	166	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GCAGTAGACATTGTTGCAATC	0.328000														59			16		0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461253	119461253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119461253C>T	uc022bmo.1	+	0	1232	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.P411L|TRIM32_uc004bjx.2_Missense_Mutation_p.P411L	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	411					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCCGCAGCCCCAGTGGCATT	0.512000														260			64		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62021184	62021184	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62021184C>T	uc002jds.1	-	21	4016	c.3939G>A	c.(3937-3939)acG>acA	p.T1313T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1313			T -> M (in PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T1313M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCTGTTCCTCCGTCATAAAGA	0.552000														60			17		0	0	1	0	0
WISP3	8838	broad.mit.edu	37	6	112382319	112382319	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112382319G>T	uc003pvo.3	+	1	364	c.228G>T	c.(226-228)aaG>aaT	p.K76N	WISP3_uc003pvm.3_Missense_Mutation_p.K58N|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	58	IGFBP N-terminal.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CTCAGCAGAAGCCCCGTTGCC	0.527000														138			36		2.48696e-23	3.07766e-23	1	1	0
ZNF485	220992	broad.mit.edu	37	10	44112192	44112192	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44112192G>T	uc010qfc.2	+	4	895	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ZNF485_uc010qfd.2_Missense_Mutation_p.R143I	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AGTCATCAGAGAATTCATACT	0.393000														71			13		1.5842e-08	1.73923e-08	1	1	0
AKD1	221264	broad.mit.edu	37	6	109815261	109815261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109815261G>A	uc003ptn.2	-	39	5533	c.5456C>T	c.(5455-5457)gCg>gTg	p.A1819V	AKD1_uc011eas.1_Missense_Mutation_p.A204V	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1819					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TAAGCATCCCGCTGCATTCAT	0.368000														62			10		0	0	1	0	0
MZF1	7593	broad.mit.edu	37	19	59082669	59082669	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59082669C>T	uc002qto.3	-	1	649	c.88G>A	c.(88-90)Gag>Aag	p.E30K	LOC100131691_uc002qtm.3_Intron|MZF1_uc002qtn.3_Missense_Mutation_p.E30K|MZF1_uc010euu.1_Missense_Mutation_p.E71K	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	30					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCCTCACCCTCCTCCTCAGAG	0.652000														66			13		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111484842G>A	uc003vfy.3	-	24	2982	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_uc003vfw.3_Missense_Mutation_p.R346W|DOCK4_uc003vfx.3_Missense_Mutation_p.R905W	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	905					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512000														176			36		0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76742101	76742101	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76742101G>A	uc001syd.1	-	0	122	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	13					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTGCAACGCCGCCTTCACAGA	0.612000									Bardet-Biedl syndrome		OREG0022001	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			8		0	0	1	0	0
MS4A7	58475	broad.mit.edu	37	11	60150639	60150639	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60150639G>A	uc001npe.3	+	1	170	c.25G>A	c.(25-27)Ggg>Agg	p.G9R	MS4A7_uc001npf.3_Missense_Mutation_p.G9R|MS4A7_uc001npg.3_Missense_Mutation_p.G9R|MS4A7_uc001nph.3_Missense_Mutation_p.G9R|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.G9R	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	9						integral to membrane	receptor activity	p.M8V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						CCAAACCATGGGGGTTTCTCA	0.458000														106			24		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153221812	153221812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153221812C>T	uc004fjp.3	-	15	3214	c.2686G>A	c.(2686-2688)Ggg>Agg	p.G896R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	896	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCCGCCCCGGCAAGGCTG	0.632000														216			58		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19470518	19470518	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19470518C>T	uc001bbi.3	-	54	8139	c.8135G>A	c.(8134-8136)aGa>aAa	p.R2712K	UBR4_uc001bbk.1_Missense_Mutation_p.R394K	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2712					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTCACATGTCTCCGTTTGTT	0.488000														184			25		0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14088266	14088266	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14088266G>A	uc022bdo.1	-	11	2151	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L	NFIB_uc003zld.3_Missense_Mutation_p.P287L|NFIB_uc003zlf.3_3'UTR|NFIB_uc003zle.3_3'UTR|NFIB_uc022bdp.1_3'UTR	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	0					Clara cell differentiation|DNA replication|Type I pneumocyte differentiation|Type II pneumocyte differentiation|anterior commissure morphogenesis|chondrocyte differentiation|commissural neuron axon guidance|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GACATTGGCCGGTAAGATGGG	0.438000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""									17			3		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60895841	60895841	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60895841G>T	uc002ycq.3	-	48	6669	c.6602C>A	c.(6601-6603)gCc>gAc	p.A2201D	LAMA5_uc021wfw.1_Missense_Mutation_p.A2201D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2201	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACGGGCCCAGGCCATGGAGCT	0.667000														126			29		2.12542e-12	2.45163e-12	1	1	0
HIVEP2	3097	broad.mit.edu	37	6	143081626	143081626	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143081626T>C	uc003qjd.3	-	8	6542	c.5799A>G	c.(5797-5799)tcA>tcG	p.S1933S		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	1933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGGTGCTTCTTGATCTTGTTT	0.473000														88			7		0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20432253	20432253	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:20432253C>T	uc001iqg.1	+	4	1208	c.571C>T	c.(571-573)Cga>Tga	p.R191*	PLXDC2_uc001iqh.1_Nonsense_Mutation_p.R142*|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	191						integral to membrane		p.H190Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						AGTCGTACATCGAATGCTAAC	0.333000														117			25		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43006104	43006104	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43006104C>A	uc003otq.3	-	24	5006	c.4674G>T	c.(4672-4674)caG>caT	p.Q1558H	CUL7_uc010jyg.3_Missense_Mutation_p.Q837H|CUL7_uc011dvb.2_Missense_Mutation_p.Q1642H|KLC4_uc003otr.1_5'Flank	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1558					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCTCCAAGTTCTGGCCGTCTT	0.552000														121			24		2.89027e-11	3.28353e-11	1	1	0
AK302694	0	broad.mit.edu	37	10	30989179	30989179	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30989179C>T	uc010qdx.1	+	4	880	c.338C>T	c.(337-339)cCg>cTg	p.P113L						SubName: Full=cDNA FLJ59642, highly similar to Supervillin;																		GAATGCAATCCGCTTATCCGC	0.502000														27			3		0	0	1	0	0
C6orf70	55780	broad.mit.edu	37	6	170181441	170181441	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170181441C>A	uc003qxg.1	+	17	1902	c.1869C>A	c.(1867-1869)atC>atA	p.I623I	C6orf70_uc011ehb.1_Silent_p.I497I|C6orf70_uc003qxh.1_Silent_p.I550I|C6orf70_uc010kky.1_Silent_p.I450I|C6orf70_uc003qxi.1_Silent_p.I271I	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	623						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		TAAAGTCGATCTTGCAGTACA	0.318000														30			11		0.000978159	0.0010017	1	1	0
MAGI1	9223	broad.mit.edu	37	3	65415781	65415781	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:65415781A>C	uc003dmn.3	-	11	2107	c.1581T>G	c.(1579-1581)gtT>gtG	p.V527V	MAGI1_uc003dmm.3_Silent_p.V527V|MAGI1_uc003dmo.3_Silent_p.V527V|MAGI1_uc003dmp.3_Silent_p.V527V|MAGI1_uc010hny.2_Silent_p.V412V	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	527	PDZ 2.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGTGTCCCAAAACACAGGTGT	0.458000														66			10		0	0	1	0	0
PRNP	5621	broad.mit.edu	37	20	4680520	4680520	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4680520C>T	uc021wae.1	+	0	654	c.654C>T	c.(652-654)taC>taT	p.Y218Y	PRNP_uc002wkt.1_Silent_p.Y188Y|PRNP_uc002wku.3_Silent_p.Y218Y|PRNP_uc002wkv.3_Silent_p.Y218Y|PRNP_uc002wkw.3_Silent_p.Y218Y|PRNP_uc002wkx.3_Silent_p.Y218Y|PRNP_uc002wky.3_Silent_p.Y218Y|PRNP_uc010gbe.1_Intron	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	218	Interaction with GRB2, ERI3 and SYN1 (By similarity).				axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TCACCCAGTACGAGAGGGAAT	0.532000														79			17		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39229562	39229562	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39229562G>A	uc003cjk.2	-	1	1604	c.1375C>T	c.(1375-1377)Ctg>Ttg	p.L459L	XIRP1_uc003cji.3_Silent_p.L459L|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.L459L	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	459							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATGGGCCAGAACCTCACCC	0.562000														371			92		0	0	1	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037151	44037151	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44037151G>A	uc002xof.3	+	0	523	c.350G>A	c.(349-351)cGc>cAc	p.R117H	DBNDD2_uc002xnx.3_Missense_Mutation_p.R15H|DBNDD2_uc021wei.1_Missense_Mutation_p.R15H|DBNDD2_uc002xnz.3_Missense_Mutation_p.R15H|DBNDD2_uc002xoa.3_Missense_Mutation_p.R15H|DBNDD2_uc021wej.1_Missense_Mutation_p.R15H|DBNDD2_uc002xob.3_Missense_Mutation_p.R113H|DBNDD2_uc002xoc.3_Missense_Mutation_p.R15H|DBNDD2_uc002xod.3_Missense_Mutation_p.R15H|DBNDD2_uc002xog.3_Missense_Mutation_p.R117H	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	113					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCGCCTTCGGGAG	0.547000														242			44		0	0	1	0	0
PLEKHF1	79156	broad.mit.edu	37	19	30165281	30165281	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30165281G>A	uc002nsi.4	+	1	888	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	PLEKHF1_uc002nsh.4_Missense_Mutation_p.G179S|PLEKHF1_uc021ury.1_Missense_Mutation_p.G179S	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	Homo sapiens pleckstrin homology domain containing, family F (with FYVE domain) member 1 (PLEKHF1), mRNA.	179					apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding			breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			CCGCAAGTGCGGCTTCGTGGT	0.701000														26			3		0	0	1	0	0
DLG5	9231	broad.mit.edu	37	10	79613246	79613246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:79613246C>T	uc001jzk.3	-	4	800	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	DLG5_uc001jzj.3_5'UTR|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	244					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			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)			AGCATGTCCACGTCATCCTTC	0.627000														48			11		0	0	1	0	0
MLL	4297	broad.mit.edu	37	11	118355026	118355026	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118355026T>C	uc001pta.3	+	8	4238	c.4215T>C	c.(4213-4215)ttT>ttC	p.F1405F	MLL_uc001ptb.3_Silent_p.F1405F|MLL_uc001pte.1_Non-coding_Transcript|MLL_uc009zab.1_Silent_p.F106F	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1405					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAGTGGACTTTAAGGTAAAGG	0.393000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									77			21		0	0	1	0	0
BCKDHB	594	broad.mit.edu	37	6	80912929	80912929	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80912929G>T	uc003pjd.2	+	8	1018	c.951_splice	c.e8+1	p.K317_splice	BCKDHB_uc003pje.2_Splice_Site_p.K317_splice	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	317					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CAATTTGTAAGGTATGAATAT	0.368000														65			20		3.62473e-10	4.06567e-10	1	1	0
FCGR2A	2212	broad.mit.edu	37	1	161487824	161487824	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487824C>T	uc001gan.3	+	6	893	c.840C>T	c.(838-840)gaC>gaT	p.D280D	FCGR2A_uc001gam.3_Silent_p.D279D|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	280						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACAATGACTATGAAACAG	0.448000														105			31		0	0	1	0	0
FOXC1	2296	broad.mit.edu	37	6	1610993	1610993	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1610993T>C	uc003mtp.3	+	0	313	c.313T>C	c.(313-315)Tac>Cac	p.Y105H		NM_001453	NP_001444	Q12948	FOXC1_HUMAN	Homo sapiens forkhead box C1 (FOXC1), mRNA.	105					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	DNA bending activity|chromatin DNA binding|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|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		GAACGGCATCTACCAGTTCAT	0.577000														252			45		0	0	1	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72763082	72763082	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72763082G>A	uc002jlo.3	+	3	988	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_004252	NP_004243	O14745	NHRF1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1 (SLC9A3R1), mRNA.	255					Wnt receptor signaling pathway|apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of ERK1 and ERK2 cascade|negative regulation of cell proliferation|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	PDZ domain binding|beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|phosphatase binding|protein self-association			large_intestine(4)	4						TAGGTCCCCTGCCTGTGCCCT	0.537000														144			42		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44121724	44121724	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44121724A>G	uc002rtr.2	-	35	4003	c.3945T>C	c.(3943-3945)aaT>aaC	p.N1315N		NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1315	RNA-binding.				mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTTCCTTTTCATTTAATTCAG	0.269000														74			7		0	0	1	0	0
SLC38A3	10991	broad.mit.edu	37	3	50255260	50255260	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50255260G>A	uc003cyn.4	+	9	981	c.840G>A	c.(838-840)acG>acA	p.T280T	SLC38A3_uc011bdl.2_Silent_p.T256T|SLC38A3_uc011bdm.2_Silent_p.T212T	NM_006841	NP_006832	Q99624	S38A3_HUMAN	Homo sapiens solute carrier family 38, member 3 (SLC38A3), mRNA.	281					cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|antiporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GCTACTTCACGCTCAACTCAC	0.592000														160			36		0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088932	43088932	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43088932C>A	uc001jaf.1	-	4	1581	c.1466G>T	c.(1465-1467)aGa>aTa	p.R489I	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.R377I|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	489						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R489I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TATGTGAGTTCTCTGATGCTG	0.403000														123			21		2.37509e-13	2.76693e-13	1	1	0
CARD10	29775	broad.mit.edu	37	22	37892461	37892461	+	Missense_Mutation	SNP	G	A	A	rs142113268		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37892461G>A	uc003asx.1	-	12	2071	c.2054C>T	c.(2053-2055)tCg>tTg	p.S685L	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asv.1_5'Flank|CARD10_uc011ank.1_Missense_Mutation_p.S3L|CARD10_uc003asw.1_Missense_Mutation_p.S399L|CARD10_uc003asy.1_Missense_Mutation_p.S685L	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	685					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTTACCCTTCGAGTCCATCAG	0.637000														95			25		0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3576607	3576607	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3576607C>A	uc002lya.3	+	6	644	c.576C>A	c.(574-576)ttC>ttA	p.F192L	HMG20B_uc002lyb.3_Missense_Mutation_p.F90L|HMG20B_uc010xhn.1_Missense_Mutation_p.F192L	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	192					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAAGAGTTCTTGGACCAAA	0.572000														35			12		6.40141e-05	6.6609e-05	1	1	0
MSGN1	343930	broad.mit.edu	37	2	17998000	17998000	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998000G>T	uc010yjt.2	+	0	215	c.215G>T	c.(214-216)gGc>gTc	p.G72V		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	72					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGTGAGCACGGCGGGGCCAGC	0.622000														214			45		3.77016e-25	4.6972e-25	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3669866	3669866	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3669866C>T	uc002wja.3	-	19	5006	c.5006G>A	c.(5005-5007)cGt>cAt	p.R1669H	SIGLEC1_uc002wiz.4_Intron|SIGLEC1_uc002wjb.1_3'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1669					cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.1670_1673del(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTTACAAACACGCCTCCTTCT	0.582000														222			47		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153580292	153580292	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153580292C>A	uc004fkk.2	-	41	7116	c.6867G>T	c.(6865-6867)aaG>aaT	p.K2289N	FLNA_uc011mzn.1_Missense_Mutation_p.K422N|FLNA_uc010nuu.1_Missense_Mutation_p.K2281N	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2289					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)					AGGAGCCGTCCTTGCGGTCCT	0.622000														105			24		1.85244e-09	2.0593e-09	1	1	0
NRXN1	9378	broad.mit.edu	37	2	51255063	51255063	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:51255063C>T	uc021vhh.1	-	0	1270	c.349G>A	c.(349-351)Gtg>Atg	p.V117M	NRXN1_uc021vhg.1_Missense_Mutation_p.V117M|NRXN1_uc021vhi.1_Missense_Mutation_p.V117M|NRXN1_uc021vhj.1_Missense_Mutation_p.V117M|NRXN1_uc021vhk.1_Missense_Mutation_p.V117M	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	117	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGATGCGCACGCTGTGCCAG	0.667000														107			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430078G>A	uc021vsy.1	-	274	73302	c.73077C>T	c.(73075-73077)aaC>aaT	p.N24359N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.N18054N|TTN_uc021vta.1_Silent_p.N17987N|TTN_uc021vtb.1_Silent_p.N17862N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25286	Fibronectin type-III 77.						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)			TTTCTTCAACGTTTACTCTTG	0.393000														139			61		0	0	1	0	0
STARD6	147323	broad.mit.edu	37	18	51851195	51851195	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51851195C>T	uc010xdt.2	-	5	530	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	177	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		GGACAATTTTCCTCTCATTTC	0.338000														53			14		0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835753	12835753	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12835753G>T	uc001aui.3	+	1	382	c.355G>T	c.(355-357)Gct>Tct	p.A119S		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	119										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGGTCTGGAGCTTCTGCACT	0.537000														241			66		9.53695e-23	1.1772e-22	1	1	0
PLK2	10769	broad.mit.edu	37	5	57753328	57753328	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:57753328G>A	uc003jrn.3	-	5	976	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	PLK2_uc021xyx.1_Silent_p.L252L	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	266	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ACACAGCCCAGGGCCCAAATG	0.368000														71			12		0	0	1	0	0
SARS2	54938	broad.mit.edu	37	19	39437163	39437163	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39437163A>G	uc010xuq.1	-	2	219	c.11T>C	c.(10-12)gTg>gCg	p.V4A	SARS2_uc002okg.1_Missense_Mutation_p.V169A|SARS2_uc002okf.1_Missense_Mutation_p.V178A	NM_017827	NP_060297	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTCCTGCCACACCCCTTCCAT	0.617000														109			28		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96070844	96070844	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96070844C>A	uc004ati.1	+	27	6605	c.6605C>A	c.(6604-6606)gCt>gAt	p.A2202D	WNK2_uc011lud.1_Missense_Mutation_p.A2165D|WNK2_uc004atj.3_Missense_Mutation_p.A2165D|WNK2_uc004atk.3_Missense_Mutation_p.A1690D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2202					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.R2202R(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCAGGCTGGGCTGCCCCTGGC	0.692000														25			13		9.31168e-06	9.81217e-06	1	1	0
ALDH3B1	221	broad.mit.edu	37	11	67790162	67790162	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67790162A>C	uc010rpy.2	+	9	1159	c.1043A>C	c.(1042-1044)gAg>gCg	p.E348A	ALDH3B1_uc001omz.3_Missense_Mutation_p.E348A|ALDH3B1_uc001ona.3_Missense_Mutation_p.E312A|ALDH3B1_uc001onb.3_Non-coding_Transcript	NM_001161473	NP_001154945	P43353	AL3B1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA.	350					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	AGCTTGGACGAGGCCATCGAG	0.657000														170			39		0	0	1	0	0
PYGO2	90780	broad.mit.edu	37	1	154932251	154932251	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932251G>A	uc001fft.3	-	2	431	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	75	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAAAGGGTTGGATGCAACCA	0.582000														66			20		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147024736	147024736	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147024736G>A	uc010nst.3	+	13	1590	c.1361G>A	c.(1360-1362)cGt>cAt	p.R454H	FMR1_uc004fcj.3_Missense_Mutation_p.R431H|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Intron|FMR1_uc004fck.4_Missense_Mutation_p.R433H|FMR1_uc022cge.1_Missense_Mutation_p.R433H|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Intron|FMR1_uc004fcl.4_Missense_Mutation_p.R294H|FMR1_uc011mxa.2_Missense_Mutation_p.R101H	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	454	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding	p.R454P(2)		NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCAAATCGTACAGATAAG	0.448000									Fragile X syndrome					143			39		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150925264	150925264	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150925264C>A	uc003lue.4	-	8	5437	c.5424G>T	c.(5422-5424)gaG>gaT	p.E1808D		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1808	Cadherin 16.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTTCAAGGCCTCCGGCTCCA	0.413000														117			35		3.90053e-15	4.60698e-15	1	1	0
RDH11	51109	broad.mit.edu	37	14	68157882	68157882	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68157882C>A	uc001xjv.4	-	3	519	c.429G>T	c.(427-429)gaG>gaT	p.E143D	RDH11_uc001xjx.4_Missense_Mutation_p.E143D|RDH11_uc001xjw.4_Missense_Mutation_p.E130D	NM_016026	NP_057110	Q8TC12	RDH11_HUMAN	Homo sapiens retinol dehydrogenase 11 (all-trans/9-cis/11-cis) (RDH11), transcript variant 1, mRNA.	143					retinol metabolic process|steroid metabolic process	endoplasmic reticulum membrane|integral to membrane	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)	12				all cancers(60;0.00047)|OV - Ovarian serous cystadenocarcinoma(108;0.00206)|BRCA - Breast invasive adenocarcinoma(234;0.00924)	Vitamin A(DB00162)	CTATGTGCATCTCAAAGCCAT	0.468000														333			13		1.5842e-08	1.73923e-08	1	1	0
CEACAM7	1087	broad.mit.edu	37	19	42192088	42192088	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42192088A>G	uc002ori.1	-	0	9	c.7T>C	c.(7-9)Tcc>Ccc	p.S3P	CEACAM7_uc010ehx.2_Missense_Mutation_p.S3P|CEACAM7_uc010ehy.1_Missense_Mutation_p.S3P	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	3						anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GCTGAAGGGGACCCCATGGTC	0.607000														96			17		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37531435	37531435	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37531435G>A	uc003aqv.1	-	7	882	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	251					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GCCCCGCTGAGGCCCACGAGG	0.582000														220			23		0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8931976	8931976	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8931976T>A	uc001apj.2	-	2	677	c.155A>T	c.(154-156)aAt>aTt	p.N52I	ENO1_uc001api.2_5'Flank|ENO1_uc009vml.2_Missense_Mutation_p.N52I|ENO1_uc009vmm.2_3'UTR	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	52					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGTCTTATCATTGTCCCGGAG	0.542000											OREG0013069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		191			25		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70815788	70815788	+	Silent	SNP	G	A	A	rs145425796		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70815788G>A	uc002ezm.3	-	7	1188	c.930C>T	c.(928-930)taC>taT	p.Y310Y	VAC14_uc010cfw.3_Silent_p.Y76Y|VAC14_uc002ezn.3_Intron|TRNA_Gly_uc021tkn.1_5'Flank	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	310					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCGGTCATCGTAGGCCAAGC	0.572000														123			11		0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18662597	18662597	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18662597C>A	uc004cyo.3	-	4	510	c.475G>T	c.(475-477)Gag>Tag	p.E159*	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	159	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		p.E159K(2)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TTCAGGCGCTCATCGGTCCTG	0.527000														156			55		1.10885e-35	1.40493e-35	1	1	0
TNNI2	7136	broad.mit.edu	37	11	1862070	1862070	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862070G>A	uc021qbv.1	+	4	230	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TNNI2_uc021qbt.1_Missense_Mutation_p.A49T|TNNI2_uc021qbu.1_Missense_Mutation_p.A49T|TNNI2_uc010qxe.1_Missense_Mutation_p.A70T	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	70					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|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)		ACAGCTGCACGCCAAGATCGA	0.677000														61			4		0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486869	131486869	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486869C>A	uc002trv.2	+	0	227	c.145C>A	c.(145-147)Ctg>Atg	p.L49M		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	49				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CAGCTCCATGCTGTACTGGCT	0.637000														118			56		7.34454e-26	9.16519e-26	1	1	0
SP100	6672	broad.mit.edu	37	2	231379934	231379934	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231379934C>T	uc002vqt.3	+	24	2360	c.2219C>T	c.(2218-2220)gCg>gTg	p.A740V	SP100_uc002vqu.1_Intron|SP100_uc010fxp.1_Intron	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	740					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATGGCAAAGGCGGACAAGGCC	0.408000														128			21		0	0	1	0	0
HIC1	3090	broad.mit.edu	37	17	1960163	1960163	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1960163A>C	uc010cjy.3	+	1	236	c.236A>C	c.(235-237)gAc>gCc	p.D79A	HIC1_uc002fty.4_Missense_Mutation_p.D60A|HIC1_uc002ftz.4_Missense_Mutation_p.D60A|HIC1_uc021tnn.1_Missense_Mutation_p.D60A	NM_001098202	NP_006488	Q14526	HIC1_HUMAN	Homo sapiens hypermethylated in cancer 1 (HIC1), transcript variant 2, mRNA.	79	BTB.				multicellular organismal development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3				READ - Rectum adenocarcinoma(1115;0.236)		GTGGTGCATGACAACCTGCTC	0.642000														161			16		0	0	1	0	0
CASP7	840	broad.mit.edu	37	10	115485189	115485189	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115485189G>A	uc001lan.3	+	4	619	c.445G>A	c.(445-447)Gta>Ata	p.V149I	CASP7_uc001lam.3_Splice_Site_p.N148_splice|CASP7_uc001lao.3_Missense_Mutation_p.V182I|CASP7_uc001lap.3_Missense_Mutation_p.V149I|CASP7_uc001laq.3_Missense_Mutation_p.V149I|CASP7_uc010qsa.2_Missense_Mutation_p.V234I|CASP7_uc010qsb.2_Missense_Mutation_p.V124I	NM_033339	NP_203125	P55210	CASP7_HUMAN	Homo sapiens caspase 7, apoptosis-related cysteine peptidase (CASP7), transcript variant gamma, mRNA.	149					activation of caspase activity by cytochrome c|cellular component disassembly involved in apoptosis|induction of apoptosis by intracellular signals|proteolysis	cytosol|endoplasmic reticulum membrane|mitochondrial membrane|nucleoplasm	cysteine-type endopeptidase activity|protein binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		AGAAGAAAATGTAATTTATGG	0.418000														77			18		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197069629	197069629	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197069629C>A	uc001gtu.3	-	17	9009	c.8752G>T	c.(8752-8754)Gct>Tct	p.A2918S	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.A766S	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2918	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACTTCTAGCTTGAATAATG	0.299000														40			5		1.23904e-05	1.3016e-05	1	1	0
QDPR	5860	broad.mit.edu	37	4	17510920	17510920	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17510920C>T	uc003gpd.3	-	1	352	c.172G>A	c.(172-174)Gac>Aac	p.D58N	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Intron	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	58					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	GTGAACGAGTCTGTCATTTTA	0.512000														68			24		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96789073	96789073	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96789073C>A	uc001yfi.3	-	17	2906	c.2541_splice	c.e17-1	p.R847_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	847										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CAGTACAATTCTGATAGCAAA	0.358000														49			13		4.36969e-10	4.89342e-10	1	1	0
ERCC2	2068	broad.mit.edu	37	19	45867704	45867704	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45867704G>T	uc002pbj.2	-	7	743	c.696C>A	c.(694-696)gtC>gtA	p.V232V	ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Silent_p.V154V|ERCC2_uc002pbk.2_Silent_p.V208V|ERCC2_uc002pbl.4_Silent_p.V208V|ERCC2_uc010xxj.1_Intron	NM_000400	NP_000391	P18074	ERCC2_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA.	232	Helicase ATP-binding.				UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	MMXD complex|cytoplasm|holo TFIIH complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCTCGTCGAAGACCACGACGG	0.632000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					89			10		0.00829132	0.00840732	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76475586	76475586	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76475586C>T	uc010dhp.2	-	49	8006	c.7881G>A	c.(7879-7881)caG>caA	p.Q2627Q		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CGGCCACCAGCTGGCTGCTTA	0.602000														124			21		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71026839	71026839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:71026839G>A	uc003dol.3	-	11	1706	c.1383C>T	c.(1381-1383)aaC>aaT	p.N461N	FOXP1_uc003dom.3_Silent_p.N385N|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Silent_p.N461N|FOXP1_uc003doo.3_Silent_p.N460N|FOXP1_uc003dop.3_Silent_p.N461N|FOXP1_uc021xao.1_Silent_p.N461N|FOXP1_uc003doq.1_Silent_p.N460N|FOXP1_uc003doi.3_Silent_p.N361N|FOXP1_uc003dok.3_Silent_p.N387N|FOXP1_uc003doj.3_Silent_p.N463N|FOXP1_uc003dor.1_Silent_p.N238N	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	461					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAACTTCTGCGTTCTTATAAA	0.338000			T	PAX5	ALL									80			20		0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10557846	10557846	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10557846G>T	uc003wtd.1	+	3	779	c.750G>T	c.(748-750)ctG>ctT	p.L250L	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	250										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGACCTGAAGCTTCAGA	0.607000														140			31		4.40665e-25	5.48893e-25	1	1	0
ATP2A2	488	broad.mit.edu	37	12	110784227	110784227	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110784227C>A	uc001tqk.4	+	19	3644	c.3081C>A	c.(3079-3081)atC>atA	p.I1027I	ATP2A2_uc001tql.4_Intron|ATP2A2_uc021rdt.1_Silent_p.I875I|ATP2A2_uc001tqn.4_Silent_p.I104I|ATP2A2_uc009zvn.3_Intron	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	1027					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCCTGGTGATCTGGGTCTATA	0.433000														80			30		1.99505e-19	2.42313e-19	1	1	0
PDX1	3651	broad.mit.edu	37	13	28498408	28498408	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28498408C>T	uc001urt.2	+	1	530	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_000209	NP_000200	P52945	PDX1_HUMAN	Homo sapiens pancreatic and duodenal homeobox 1 (PDX1), mRNA.	141					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GCCTACGCTGCGGAGCCGGAG	0.687000														61			12		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46733793	46733793	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46733793G>A	uc001vaz.4	-	1	131	c.5C>T	c.(4-6)gCc>gTc	p.A2V	LCP1_uc001vba.4_Missense_Mutation_p.A2V	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	2					T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATCCTCTGGCCATTTTTTA	0.388000			T	BCL6	NHL									66			9		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022417	96022417	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022417T>C	uc001kjk.3	+	13	4615	c.3981T>C	c.(3979-3981)ctT>ctC	p.L1327L	PLCE1_uc010qnx.2_Silent_p.L1311L|PLCE1_uc001kjm.3_Silent_p.L1019L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1327					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGGCATACTTCAGCTCAACG	0.478000														244			55		0	0	1	0	0
WDR19	57728	broad.mit.edu	37	4	39191347	39191347	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39191347T>G	uc003gtv.3	+	3	390	c.236T>G	c.(235-237)aTt>aGt	p.I79S	WDR19_uc010ifl.1_5'UTR|WDR19_uc003gtu.1_Missense_Mutation_p.I79S|WDR19_uc011byi.2_5'UTR	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	79					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TCTAGCTGCATTTATCTTTGG	0.358000														57			15		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801988	148801988	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801988G>A	uc003wfj.3	-	3	1108	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	325					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCTTCTCTCCGCTGTGCAGCC	0.667000														121			21		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90050900	90050900	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90050900C>T	uc003kju.3	+	54	11574	c.11478C>T	c.(11476-11478)gtC>gtT	p.V3826V	GPR98_uc003kjt.3_Silent_p.V1532V|GPR98_uc003kjv.3_Silent_p.V1426V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3826					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGCATGTCGATAATCAAG	0.358000														109			28		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112480017	112480017	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112480017G>A	uc003pvu.2	-	13	2043	c.1734C>T	c.(1732-1734)aaC>aaT	p.N578N	LAMA4_uc003pvv.2_Silent_p.N571N|LAMA4_uc003pvt.2_Silent_p.N571N	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	578	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GGTTACTTAGGTTAGATAGTT	0.338000														58			12		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140741634	140741634	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140741634C>T	uc003ljs.2	+	0	1932	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Silent_p.V644V|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	646	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTGCTGGTCGCTGTGCGTG	0.687000														84			19		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36872371	36872371	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36872371C>A	uc003cgj.3	-	20	8819	c.8571G>T	c.(8569-8571)tgG>tgT	p.W2857C		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2857					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TACCGCCAGCCCAGGCCTTCC	0.582000														89			30		7.01153e-11	7.92827e-11	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96163599	96163599	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163599A>C	uc003hto.3	-	6	1442	c.1089T>G	c.(1087-1089)acT>acG	p.T363T	UNC5C_uc010ilc.2_Silent_p.T363T|UNC5C_uc003htq.3_Silent_p.T363T	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	363	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAAGCCCATCAGTGCAGTTCT	0.517000														71			20		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965630	35965630	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35965630C>A	uc003jjv.2	-	3	894	c.701G>T	c.(700-702)aGg>aTg	p.R234M	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R234M|UGT3A1_uc011cor.2_Missense_Mutation_p.R200M|UGT3A1_uc003jjy.2_Missense_Mutation_p.R180M	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	234						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.438000														142			24		5.35356e-11	6.06456e-11	1	1	0
TBC1D2B	23102	broad.mit.edu	37	15	78322507	78322507	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78322507G>A	uc002bcy.4	-	3	689	c.689C>T	c.(688-690)tCg>tTg	p.S230L	TBC1D2B_uc010bla.3_Missense_Mutation_p.S230L	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	230						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						AGAAGACATCGAATTCCTGTT	0.353000														33			12		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46827244	46827244	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827244C>A	uc001cpr.1	+	5	990	c.881C>A	c.(880-882)gCt>gAt	p.A294D	NSUN4_uc010omc.1_Missense_Mutation_p.A245D|NSUN4_uc009vyf.1_Missense_Mutation_p.A143D|NSUN4_uc009vyg.1_Missense_Mutation_p.A245D|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	294							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GGTTTCAGGGCTGGACTCCTT	0.493000														117			13		2.27111e-07	2.44751e-07	1	1	0
WDR72	256764	broad.mit.edu	37	15	53908400	53908400	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53908400A>G	uc002acj.2	-	14	2045	c.2003T>C	c.(2002-2004)tTg>tCg	p.L668S	WDR72_uc010bfi.1_Missense_Mutation_p.L668S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	668										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCACAGGCAAGACATTAAA	0.343000														50			19		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40068746	40068746	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40068746G>A	uc002xka.1	-	25	4079	c.3901C>T	c.(3901-3903)Cga>Tga	p.R1301*	CHD6_uc002xkb.1_Nonsense_Mutation_p.R67*	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1301					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding	p.R1301Q(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGGTCTGCTCGCATGGCATTG	0.463000														97			22		0	0	1	0	0
ERCC3	2071	broad.mit.edu	37	2	128050320	128050320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128050320C>T	uc002toh.1	-	2	432	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	ERCC3_uc002toe.1_5'Flank|ERCC3_uc002tof.1_Missense_Mutation_p.V49M|ERCC3_uc002tog.1_Missense_Mutation_p.V49M|ERCC3_uc010flx.1_Intron|ERCC3_uc010yzh.1_Non-coding_Transcript|ERCC3_uc010fly.3_Intron	NM_000122	NP_000113	P19447	ERCC3_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.	113					DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TACTCATGCACATGGGTTGGT	0.507000			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					118			43		0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042719	2042719	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042719G>A	uc002cod.3	+	2	578	c.420G>A	c.(418-420)acG>acA	p.T140T	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	140	MARVEL.				positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle		p.T139T(1)		endometrium(1)|lung(2)	3						CGGCCACGACGCAGGCGGGGG	0.721000														68			17		0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709054	128709054	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128709054G>A	uc001qeo.1	-	1	1193	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	KCNJ1_uc001qep.1_Missense_Mutation_p.S362L|KCNJ1_uc001qeq.1_Missense_Mutation_p.S362L|KCNJ1_uc001qer.1_Missense_Mutation_p.S362L|KCNJ1_uc001qes.1_Missense_Mutation_p.S362L|KCNJ1_uc021qsb.1_Missense_Mutation_p.S362L	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	381					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTGACTTCTGACAAGATGAA	0.433000														73			12		0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184931469	184931469	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184931469C>T	uc003ivz.1	+	2	2913	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L	STOX2_uc003iwa.1_Missense_Mutation_p.S182L	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	493					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGATCCAGGTCGATGGATAAC	0.572000														13			6		0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957901	121957901	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121957901G>T	uc003idq.1	-	3	1752	c.1225C>A	c.(1225-1227)Ctt>Att	p.L409I		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	409										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTTCCTCTAAGCTGAAACTGC	0.413000														174			60		1.54043e-34	1.94903e-34	1	1	0
SERINC4	619189	broad.mit.edu	37	15	44088365	44088365	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44088365G>A	uc001zte.1	-	7	1028	c.396C>T	c.(394-396)agC>agT	p.S132S	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|MIR1282_uc021ske.1_5'Flank|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Silent_p.S132S	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	376					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAAACTCATAGCTGTAAACCT	0.468000														111			23		0	0	1	0	0
PAPOLB	56903	broad.mit.edu	37	7	4899539	4899539	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4899539G>T	uc003snk.3	-	0	2087	c.1903C>A	c.(1903-1905)Cta>Ata	p.L635I	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	634					RNA polyadenylation|mRNA processing|transcription, DNA-dependent	nucleus	ATP binding|RNA binding|metal ion binding|polynucleotide adenylyltransferase activity			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		TATAGGATTAGATATGTTTGT	0.413000														50			14		4.36969e-10	4.89342e-10	1	1	0
C4orf51	646603	broad.mit.edu	37	4	146601532	146601532	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146601532G>A	uc003ikk.3	+	0	177	c.177G>A	c.(175-177)aaG>aaA	p.K59K		NM_001080531	NP_001074000	C9J302	CD051_HUMAN	Homo sapiens chromosome 4 open reading frame 51 (C4orf51), mRNA.	59										haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	6						AACTGGACAAGTCCATGTGCA	0.428000														111			19		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234407224	234407224	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234407224G>T	uc010zmr.2	-	21	2718	c.2718C>A	c.(2716-2718)tgC>tgA	p.C906*	USP40_uc010zms.1_Nonsense_Mutation_p.C4*|USP40_uc002vuo.1_Nonsense_Mutation_p.C70*	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	894					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CAGCTTCATAGCACCAATCCA	0.353000														35			10		4.36969e-10	4.89342e-10	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227963476	227963476	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227963476C>A	uc021vxr.1	-	17	1239	c.1138G>T	c.(1138-1140)Gaa>Taa	p.E380*	COL4A4_uc021vxs.1_Nonsense_Mutation_p.E380*	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	380	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCCCTGTTTCTCCATAGCGG	0.527000														133			12		3.07112e-06	3.25591e-06	1	1	0
KCNG3	170850	broad.mit.edu	37	2	42720251	42720251	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:42720251C>T	uc002rsn.3	-	0	987	c.391G>A	c.(391-393)Gag>Aag	p.E131K	MTA3_uc002rso.1_5'Flank|KCNG3_uc002rsm.3_Missense_Mutation_p.E131K	NM_133329	NP_579875	Q8TAE7	KCNG3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 3 (KCNG3), transcript variant 1, mRNA.	131						endoplasmic reticulum|voltage-gated potassium channel complex	protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						ACGCCCGGCTCGTCGGCCGAG	0.736000														50			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179500957	179500957	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179500957G>A	uc021vsy.1	-	174	33862	c.33637C>T	c.(33637-33639)Cgt>Tgt	p.R11213C	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R4908C|TTN_uc021vta.1_Missense_Mutation_p.R4841C|TTN_uc021vtb.1_Missense_Mutation_p.R4716C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12140	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACAAAACGCACAGGAAGT	0.358000														26			13		0	0	1	0	0
C12orf12	196477	broad.mit.edu	37	12	91348413	91348413	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91348413G>A	uc001tbj.3	-	0	541	c.107C>T	c.(106-108)tCg>tTg	p.S36L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	36										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ATGGCAGGACGACCAGGAGCT	0.657000														39			10		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963589	88963589	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:88963589A>G	uc011khi.2	+	3	1831	c.1293A>G	c.(1291-1293)gcA>gcG	p.A431A		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	431						intracellular	zinc ion binding	p.A431A(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TAAAAGAAGCATGTACCCATA	0.388000										HNSCC(36;0.09)				89			22		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058949	79058949	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79058949G>T	uc002bej.4	-	18	3515	c.3304C>A	c.(3304-3306)Cct>Act	p.P1102T	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1102					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGCGCAGCAGGATGGCTGTGT	0.657000														73			13		1.3612e-06	1.45125e-06	1	1	0
PTPRG	5793	broad.mit.edu	37	3	61989075	61989075	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:61989075C>T	uc003dlb.3	+	3	1142	c.423C>T	c.(421-423)ggC>ggT	p.G141G	PTPRG_uc003dlc.3_Silent_p.G141G	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	141	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GTCTACCTGGCAGATTCAAAG	0.478000														128			29		0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56423953	56423953	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56423953C>T	uc010ygg.2	-	4	1255	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	410	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTCTTAGCTGCTGCAGGATTT	0.458000														111			37		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228846450	228846450	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228846450G>T	uc002vpq.2	-	11	5133	c.5086C>A	c.(5086-5088)Ctc>Atc	p.L1696I	SPHKAP_uc002vpp.2_Missense_Mutation_p.L1667I|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1696						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)		AGTTCCAAGAGCCAGTCAAAG	0.438000														123			18		5.03518e-11	5.70985e-11	1	1	0
MAD1L1	8379	broad.mit.edu	37	7	2041733	2041733	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2041733C>A	uc003slh.1	-	13	1649	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	MAD1L1_uc003sle.1_Missense_Mutation_p.E190D|MAD1L1_uc003slf.1_Missense_Mutation_p.E461D|MAD1L1_uc003slg.1_Missense_Mutation_p.E461D|MAD1L1_uc010ksh.1_Missense_Mutation_p.E461D|MAD1L1_uc003sli.1_Missense_Mutation_p.E369D|MAD1L1_uc010ksi.1_Missense_Mutation_p.E414D|MAD1L1_uc010ksj.3_Missense_Mutation_p.E461D	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	461	Necessary for interaction with NEK2.				cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CTCCCAGCTCCTCCAGGGCCT	0.627000														331			81		4.8811e-34	6.17113e-34	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2795339	2795339	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795339G>A	uc009zdu.1	+	47	6250	c.5937G>A	c.(5935-5937)agG>agA	p.R1979R	CACNA1C_uc001qkc.2_Silent_p.R1915R|CACNA1C_uc001qjz.2_Silent_p.R1896R|CACNA1C_uc001qkd.2_Silent_p.R1915R|CACNA1C_uc001qke.2_Silent_p.R1885R|CACNA1C_uc001qkf.2_Silent_p.R1904R|CACNA1C_uc009zdw.1_Silent_p.R1937R|CACNA1C_uc001qkg.2_Silent_p.R1902R|CACNA1C_uc001qkh.2_Silent_p.R1904R|CACNA1C_uc001qkl.2_Silent_p.R1944R|CACNA1C_uc001qkj.2_Silent_p.R1931R|CACNA1C_uc001qkk.2_Silent_p.R1896R|CACNA1C_uc001qkn.2_Silent_p.R1896R|CACNA1C_uc001qkm.2_Silent_p.R1956R|CACNA1C_uc001qko.2_Silent_p.R1916R|CACNA1C_uc001qkp.2_Silent_p.R1896R|CACNA1C_uc001qkq.2_Silent_p.R1924R|CACNA1C_uc001qku.2_Silent_p.R1931R|CACNA1C_uc001qkr.2_Silent_p.R1913R|CACNA1C_uc001qks.2_Silent_p.R1896R|CACNA1C_uc001qkt.2_Silent_p.R1915R|CACNA1C_uc009zdv.1_Silent_p.R1893R|CACNA1C_uc001qkb.2_Silent_p.R1896R|CACNA1C_uc001qki.1_Silent_p.R1703R|CACNA1C_uc010sea.1_Silent_p.R587R|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Silent_p.R214R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1979					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	p.E1978K(2)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGGTCGAAGGGCCTCCTTCC	0.572000														158			34		0	0	1	0	0
MLLT1	4298	broad.mit.edu	37	19	6213122	6213122	+	Silent	SNP	G	A	A	rs143086360	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6213122G>A	uc002mek.3	-	11	1775	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	537					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGAAGAGGTCGAAGTCGAAGG	0.637000			T	MLL	AL									295			49		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23873579	23873579	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23873579T>G	uc001wjv.3	-	7	732	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	MYH6_uc010akp.2_Missense_Mutation_p.I221L	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	221	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.I221I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCTGGATGATCTGGTCCTCC	0.612000														234			40		0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112399705	112399705	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112399705C>A	uc003kql.4	-	13	2605	c.2189G>T	c.(2188-2190)aGc>aTc	p.S730I	MCC_uc003kqj.4_Missense_Mutation_p.S540I|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.S540I	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	540					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)		GGAGGAAAGGCTCTCCCAGGG	0.617000														150			37		1.90571e-15	2.25613e-15	1	1	0
MID1	4281	broad.mit.edu	37	X	10417463	10417463	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10417463A>C	uc004cte.4	-	9	2139	c.1949T>G	c.(1948-1950)aTt>aGt	p.I650S	MID1_uc004ctd.4_Missense_Mutation_p.I361S|MID1_uc004ctg.4_Missense_Mutation_p.I650S|MID1_uc004cth.4_Missense_Mutation_p.I612S|MID1_uc004ctk.4_Missense_Mutation_p.I650S|MID1_uc004ctj.4_Missense_Mutation_p.I650S|MID1_uc004cti.4_Missense_Mutation_p.I650S|MID1_uc004csz.4_Missense_Mutation_p.I322S|MID1_uc004cta.4_Missense_Mutation_p.I406S|MID1_uc004ctb.4_Missense_Mutation_p.I310S|MID1_uc004ctc.4_Missense_Mutation_p.I417S	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	650	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGTGATAATCGTCAGACA	0.532000														88			39		0	0	1	0	0
KCNK4	50801	broad.mit.edu	37	11	64064699	64064699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64064699G>A	uc001nzj.1	+	3	745	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	KCNK4_uc009ypl.1_Missense_Mutation_p.G114S|KCNK4_uc001nzk.1_Missense_Mutation_p.G75S|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.G75S|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Missense_Mutation_p.R141Q|KCNK4_uc001nzo.2_Missense_Mutation_p.R141Q|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	141						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GTCGGGGACCGGCTGGGCTCC	0.632000														176			8		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112128185	112128185	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112128185C>T	uc003kpz.4	+	7	881	c.688C>T	c.(688-690)Cgt>Tgt	p.R230C	APC_uc011cvt.2_Intron|APC_uc003kpy.4_Missense_Mutation_p.R230C|APC_uc010jbz.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	230	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGACATACTTCGTATACGACA	0.308000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				49			16		0	0	1	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523715	24523715	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24523715C>T	uc001wlj.2	+	4	514	c.357C>T	c.(355-357)ggC>ggT	p.G119G		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	119										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)		TCTGCCCTGGCCCTGGGTGAG	0.582000														110			30		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285823	87285823	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87285823G>A	uc004aoa.1	+	3	1098	c.160G>A	c.(160-162)Gca>Aca	p.A54T	NTRK2_uc004anv.1_Missense_Mutation_p.A54T|NTRK2_uc004any.1_Missense_Mutation_p.A54T|NTRK2_uc004anz.1_Missense_Mutation_p.A54T|NTRK2_uc004aob.1_Missense_Mutation_p.A54T|NTRK2_uc011lsz.2_Missense_Mutation_p.A54T|NTRK2_uc011lta.2_Missense_Mutation_p.A54T|NTRK2_uc011ltb.1_5'Flank	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	54	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGGCATCGTGGCATTTCCGAG	0.567000										TSP Lung(25;0.17)				170			15		0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502965	118502965	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118502965G>T	uc001ptr.2	+	9	2684	c.2331G>T	c.(2329-2331)caG>caT	p.Q777H	PHLDB1_uc001pts.3_Missense_Mutation_p.Q777H|PHLDB1_uc001ptt.3_Missense_Mutation_p.Q777H|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Missense_Mutation_p.Q577H|PHLDB1_uc001ptw.2_Missense_Mutation_p.Q179H|PHLDB1_uc009zai.2_Intron|PHLDB1_uc001ptx.2_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	777										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		ATCAGCTGCAGGAGAAGCTGG	0.627000														103			23		1.28384e-07	1.38782e-07	1	1	0
UBE4B	10277	broad.mit.edu	37	1	10239537	10239537	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10239537G>A	uc021ogc.1	+	27	4605	c.3917G>A	c.(3916-3918)cGc>cAc	p.R1306H	UBE4B_uc001aqs.4_Missense_Mutation_p.R1255H|UBE4B_uc001aqr.4_Missense_Mutation_p.R1126H|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Missense_Mutation_p.R710H|UBE4B_uc001aqu.3_Missense_Mutation_p.R136H	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1255					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R1126H(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATCATGGACCGCTCCATCATC	0.597000														249			27		0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51752996	51752996	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51752996G>A	uc001ryk.2	-	6	1513	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.R430C|GALNT6_uc001ryj.1_5'UTR	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	430					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCTGCCAGGCGCACTTGATTG	0.542000														444			55		0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52231644	52231644	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52231644G>A	uc001cst.3	+	11	1166	c.983G>A	c.(982-984)cGc>cAc	p.R328H	OSBPL9_uc001css.3_Missense_Mutation_p.R315H|OSBPL9_uc009vza.3_Missense_Mutation_p.R293H|OSBPL9_uc001csu.3_Missense_Mutation_p.R320H|OSBPL9_uc001csv.3_Missense_Mutation_p.R145H|OSBPL9_uc001csw.3_Missense_Mutation_p.R297H|OSBPL9_uc001csy.3_Missense_Mutation_p.R132H|OSBPL9_uc001csz.3_Missense_Mutation_p.R132H|OSBPL9_uc001cta.3_Missense_Mutation_p.R200H|OSBPL9_uc001ctb.3_Missense_Mutation_p.R95H	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	310					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TCCCCAAAGCGCTTAATAGAG	0.348000														85			5		0	0	1	0	0
SUN2	25777	broad.mit.edu	37	22	39135889	39135889	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39135889G>A	uc011anz.2	-	13	1572	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R	SUN2_uc011aoa.2_Silent_p.R461R|SUN2_uc003awh.2_Silent_p.R472R|SUN2_uc010gxq.2_Silent_p.R493R|SUN2_uc003awi.2_Silent_p.R472R|SUN2_uc010gxr.2_Silent_p.R472R	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 2 (SUN2), transcript variant 2, mRNA.	472					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|endosome membrane|integral to membrane|nuclear inner membrane	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						GGAGCCCCACGCGGCCCCCTC	0.622000														311			57		0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967338	91967338	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91967338T>C	uc001doe.3	+	1	230	c.65T>C	c.(64-66)tTt>tCt	p.F22S	CDC7_uc001dof.3_Missense_Mutation_p.F22S|CDC7_uc010osw.2_Missense_Mutation_p.F22S|CDC7_uc009wdc.3_Missense_Mutation_p.F22S	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	22					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CGTGACCGGTTTCAGGCTGAA	0.428000														184			18		0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50216321	50216321	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50216321G>A	uc010eng.3	+	19	2542	c.2226_splice	c.e19+1	p.T742_splice	CPT1C_uc002ppi.3_Splice_Site_p.T659_splice|CPT1C_uc002ppk.3_Splice_Site_p.T731_splice|CPT1C_uc010enh.3_Splice_Site_p.T742_splice|CPT1C_uc002ppj.3_Splice_Site_p.T742_splice|CPT1C_uc010eni.1_Splice_Site_p.T310_splice	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	742					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCACAAAAACGGTGAGACAAA	0.527000														252			52		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33696652	33696652	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33696652T>C	uc010edh.3	+	4	1069	c.976T>C	c.(976-978)Tcc>Ccc	p.S326P	LRP3_uc010xrp.1_Missense_Mutation_p.S200P|LRP3_uc002nuk.4_Missense_Mutation_p.S200P	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	326	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGACGCTGTCCTACCGCAG	0.721000														35			10		0	0	1	0	0
PHPT1	29085	broad.mit.edu	37	9	139743981	139743981	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743981C>T	uc004cjq.4	+	0	726	c.99C>T	c.(97-99)tcC>tcT	p.S33S	PHPT1_uc011mei.2_Silent_p.S33S|MAMDC4_uc004cjs.3_5'Flank|MAMDC4_uc011mej.2_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 3, mRNA.	33						cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTCCCCGCTCCGGGGCTCCGG	0.652000														181			21		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451411	55451411	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55451411T>C	uc002qih.4	-	3	852	c.776A>G	c.(775-777)aAa>aGa	p.K259R	NLRP7_uc010esk.3_Missense_Mutation_p.K259R|NLRP7_uc002qig.4_Missense_Mutation_p.K259R|NLRP7_uc002qii.4_Missense_Mutation_p.K259R|NLRP7_uc010esl.3_Missense_Mutation_p.K287R	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	259	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGGTGGGACTTTCAGCTCATC	0.552000														224			54		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115769425	115769425	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:115769425G>C	uc003ibu.3	-	8	2565	c.1886C>G	c.(1885-1887)aCa>aGa	p.T629R	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	629	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCCTCAAATGTCTTTGGACT	0.308000														61			18		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16949516	16949516	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16949516C>T	uc001ioo.3	-	48	7748	c.7696G>A	c.(7696-7698)Gaa>Aaa	p.E2566K	CUBN_uc009xjq.1_Intron|CUBN_uc009xjr.1_Intron	NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2566					cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGCATCTTCACTGGAGGTA	0.458000														96			16		0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81964505	81964505	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:81964505T>C	uc003uhr.1	-	2	496	c.240A>G	c.(238-240)gaA>gaG	p.E80E		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	80						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TGGCTGCAATTTCTACCAGCT	0.343000														217			54		0	0	1	0	0
GALNT5	11227	broad.mit.edu	37	2	158115529	158115529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158115529G>A	uc002tzg.3	+	0	1190	c.935G>A	c.(934-936)gGg>gAg	p.G312E	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	312					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGGGCTCATGGGAAGAAACTC	0.403000														159			11		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21053554	21053554	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21053554G>A	uc002kui.4	+	7	1594	c.977G>A	c.(976-978)cGc>cAc	p.R326H	RIOK3_uc010dls.3_Missense_Mutation_p.R326H|RIOK3_uc010xas.2_Missense_Mutation_p.R310H|RIOK3_uc010xat.2_Intron	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	326	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGATCATCCGCATGTGGGCA	0.323000														42			6		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3678683	3678683	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3678683G>A	uc002wja.3	-	7	1884	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	SIGLEC1_uc002wiz.4_Silent_p.S628S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	628	Ig-like C2-type 6.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGGGGGGGTCGCTGTCCACAC	0.677000														73			13		0	0	1	0	0
POGK	57645	broad.mit.edu	37	1	166818370	166818370	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166818370A>G	uc001gdt.1	+	4	674	c.554A>G	c.(553-555)gAc>gGc	p.D185G	POGK_uc010ple.1_Missense_Mutation_p.D100G|POGK_uc010plf.1_Missense_Mutation_p.D67G	NM_017542	NP_060012	Q9P215	POGK_HUMAN	Homo sapiens pogo transposable element with KRAB domain (POGK), mRNA.	185					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						TCGGCTGATGACATAGCTGGG	0.572000														117			37		0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76692258	76692258	+	Missense_Mutation	SNP	C	G	G	rs146437956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76692258C>G	uc003hiu.3	+	5	545	c.370C>G	c.(370-372)Cta>Gta	p.L124V	USO1_uc003hiv.3_Missense_Mutation_p.L10V|USO1_uc003hiw.3_Missense_Mutation_p.L10V	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	175	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	Golgi membrane|cytosol	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATGGACTTACTAGCGGATTC	0.308000														40			5		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6587919	6587919	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6587919A>G	uc001mdw.4	+	34	11873	c.11309A>G	c.(11308-11310)tAt>tGt	p.Y3770C	DNHD1_uc001mea.4_Missense_Mutation_p.Y39C|DNHD1_uc001meb.3_Missense_Mutation_p.Y38C|DNHD1_uc001mec.3_Missense_Mutation_p.Y38C|DNHD1_uc010rao.2_Missense_Mutation_p.Y38C|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3770					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCAGAGAGTATCCTGAACTC	0.527000														25			5		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101047522	101047522	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101047522C>T	uc003dut.3	-	20	2874	c.2763G>A	c.(2761-2763)tcG>tcA	p.S921S	SENP7_uc003duu.3_Silent_p.S856S|SENP7_uc003duv.3_Silent_p.S888S|SENP7_uc003duw.3_Silent_p.S855S|SENP7_uc003dux.3_Silent_p.S757S|SENP7_uc003dus.3_Silent_p.S109S	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	921	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CTGACATATTCGACTCGGTAC	0.274000														19			11		0	0	1	0	0
PION	54103	broad.mit.edu	37	7	76950696	76950696	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76950696C>T	uc003ugf.3	-	24	2027	c.1948G>A	c.(1948-1950)Gaa>Aaa	p.E650K	PION_uc011kgo.2_Intron|PION_uc003ugd.3_Missense_Mutation_p.E44K	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	650					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAATTGGTTTCTACGATGTGG	0.458000														61			18		0	0	1	0	0
KCNJ8	3764	broad.mit.edu	37	12	21926289	21926289	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21926289C>T	uc001rff.3	-	1	600	c.262G>A	c.(262-264)Gct>Act	p.A88T		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	88						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CACATGATAGCGAAGAGCAGC	0.517000											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		164			28		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36355551	36355551	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36355551G>A	uc002ocb.4	+	14	1938	c.1726_splice	c.e14-1	p.G576_splice	KIRREL2_uc002obz.4_Splice_Site_p.G576_splice|KIRREL2_uc002oca.4_Splice_Site_p.G526_splice|KIRREL2_uc002ocd.4_Splice_Site_p.G538_splice	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	576					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTACCCCAGGGCCCCATTGTG	0.597000														93			26		0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102553	22102553	+	Missense_Mutation	SNP	A	C	C	rs144770758		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22102553A>C	uc010tmc.2	-	0	446	c.446T>G	c.(445-447)cTt>cGt	p.L149R		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TCCAGCCACAAGGACTGTGCA	0.557000														50			11		0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579133	49579133	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49579133C>T	uc009zlf.3	-	3	1288	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TUBA1A_uc001rtp.3_Missense_Mutation_p.R339H	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	339					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						CTGGATGGTACGCTTGGTCTT	0.552000														151			38		0	0	1	0	0
DDX41	51428	broad.mit.edu	37	5	176940011	176940011	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176940011C>T	uc003mho.3	-	12	1323	c.1302_splice	c.e12+1	p.P434_splice	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DDX41_uc003mhn.3_Splice_Site_p.P303_splice|DDX41_uc003mhp.3_Splice_Site_p.P303_splice|DDX41_uc003mhq.1_Splice_Site_p.P214_splice	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	434	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCTGCACTCACAGGCGGGGGT	0.637000														346			27		0	0	1	0	0
ALG10B	144245	broad.mit.edu	37	12	38710827	38710827	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:38710827G>A	uc001rln.4	+	0	271	c.132G>A	c.(130-132)caG>caA	p.Q44Q		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	44					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				ACCTGCCTCAGGCGCAGCGCT	0.632000														375			83		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029293	219029293	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029293C>T	uc021vwq.1	-	0	642	c.642G>A	c.(640-642)ccG>ccA	p.P214P	CXCR1_uc002vhc.3_Silent_p.P214P|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	214					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V213M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGACAAACAGCGGCACGATGA	0.527000														205			49		0	0	1	0	0
GGT1	2678	broad.mit.edu	37	22	25007192	25007192	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25007192G>A	uc003aan.1	+	4	631	c.144G>A	c.(142-144)aaG>aaA	p.K48K	GGT1_uc003aas.1_Silent_p.K48K|GGT1_uc003aat.1_Silent_p.K48K|GGT1_uc003aau.2_Silent_p.K48K|GGT1_uc003aav.2_Silent_p.K48K|GGT1_uc003aaw.2_Silent_p.K48K|GGT1_uc003aax.2_Silent_p.K48K	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	48					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CGGATGCCAAGCAGTGCTCGA	0.607000														12			5		0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381095	141381095	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141381095C>A	uc003yvh.2	-	7	1628	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	TRAPPC9_uc003yvj.2_Missense_Mutation_p.S440I|TRAPPC9_uc003yvi.1_Missense_Mutation_p.S431I	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	440					cell differentiation	Golgi apparatus|endoplasmic reticulum				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAGCGACAGACTGTAGCCGGG	0.597000														218			50		6.08268e-21	7.44607e-21	1	1	0
SERTAD4	56256	broad.mit.edu	37	1	210415340	210415340	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210415340G>A	uc001hhy.3	+	3	908	c.729G>A	c.(727-729)caG>caA	p.Q243Q	SERTAD4_uc009xcw.3_Silent_p.Q243Q	NM_019605	NP_062551	Q9NUC0	SRTD4_HUMAN	Homo sapiens SERTA domain containing 4 (SERTAD4), mRNA.	243							protein binding	p.R242H(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		GTTCCCGCCAGGTGGATTTTG	0.498000														95			26		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731070	24731070	+	Missense_Mutation	SNP	G	C	C	rs144651432		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24731070G>C	uc001wod.3	-	2	463	c.339C>G	c.(337-339)aaC>aaG	p.N113K	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	113					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGTCCACACCGTTCACTACTA	0.592000														205			19		0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153219959	153219959	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153219959G>A	uc004fjp.3	-	16	4419	c.3891C>T	c.(3889-3891)caC>caT	p.H1297H		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1297					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCCTGTCTCGTGGGTCTCAC	0.662000														365			109		0	0	1	0	0
NDUFB9	4715	broad.mit.edu	37	8	125559321	125559321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:125559321G>A	uc011lim.1	+	2	460	c.375G>A	c.(373-375)tgG>tgA	p.W125*	NDUFB9_uc003yrg.4_Nonsense_Mutation_p.W125*	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa (NDUFB9), nuclear gene encoding mitochondrial protein, mRNA.	125					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	GAGAACAGTGGAAGAAACTGC	0.468000														171			39		0	0	1	0	0
SCN2B	6327	broad.mit.edu	37	11	118039321	118039321	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118039321G>A	uc001psf.2	-	1	407	c.216C>T	c.(214-216)tgC>tgT	p.C72C		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	72	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	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;3.19e-05)|Epithelial(105;0.00117)		AGCAGTTGTTGCACTCCTGGT	0.607000														268			63		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21805045	21805045	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21805045G>A	uc003svc.3	+	56	8993	c.8962_splice	c.e56-1	p.I2988_splice		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2988	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTCTCCACAGATCATTTTGT	0.483000									Kartagener syndrome					231			17		0	0	1	0	0
MID1	4281	broad.mit.edu	37	X	10427733	10427733	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10427733T>A	uc004cte.4	-	7	1590	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	MID1_uc004ctd.4_Missense_Mutation_p.N178I|MID1_uc004ctg.4_Missense_Mutation_p.N467I|MID1_uc004cth.4_Missense_Mutation_p.N429I|MID1_uc004ctk.4_Missense_Mutation_p.N467I|MID1_uc004ctj.4_Missense_Mutation_p.N467I|MID1_uc004cti.4_Missense_Mutation_p.N467I|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004csz.4_Missense_Mutation_p.N139I|MID1_uc004cta.4_Missense_Mutation_p.N223I|MID1_uc004ctb.4_Missense_Mutation_p.N127I|MID1_uc004ctc.4_Missense_Mutation_p.N234I	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	467	Fibronectin type-III.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCGCCTGGTTGATGGCCTT	0.517000														270			69		0	0	1	0	0
DIXDC1	85458	broad.mit.edu	37	11	111866132	111866132	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111866132C>T	uc001pml.3	+	16	1827	c.1530C>T	c.(1528-1530)agC>agT	p.S510S	DIXDC1_uc001pmm.3_Silent_p.S299S|DIXDC1_uc001pmn.3_Silent_p.S217S|DIXDC1_uc010rwq.2_Silent_p.S176S	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	511					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CACAGACCAGCGACCTGCAGC	0.527000														96			18		0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33625357	33625357	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33625357G>A	uc001bxb.3	-	2	1331	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	231						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GCTCCTGCAGGATCTGGGCTC	0.692000														200			9		0	0	1	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142250985	142250985	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142250985G>T	uc011ksf.2	-	1	77	c.62C>A	c.(61-63)gCt>gAt	p.A21D	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGTGATCCCAGCAGTCACTGG	0.527000														103			24		1.85244e-09	2.0593e-09	1	1	0
SLC17A8	246213	broad.mit.edu	37	12	100797876	100797876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100797876C>T	uc010svi.2	+	8	1427	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	SLC17A8_uc009ztx.3_Nonsense_Mutation_p.Q322*	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	372					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.G371R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TATTGGAGGACAATTGGCTGA	0.408000														94			13		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17688685	17688685	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17688685C>A	uc003ncd.1	-	1	476	c.276G>T	c.(274-276)gaG>gaT	p.E92D	NUP153_uc011dje.1_Missense_Mutation_p.E92D|NUP153_uc010jpl.1_Missense_Mutation_p.E92D	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	92					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTAGAGCTCTCCTCATCGG	0.413000														118			12		6.40141e-05	6.6609e-05	1	1	0
CHST9	83539	broad.mit.edu	37	18	24496351	24496351	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24496351C>T	uc002kwd.3	-	4	1433	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N	CHST9-AS1_uc002kwb.2_Intron|CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Missense_Mutation_p.D402N|CHST9_uc021uij.1_Missense_Mutation_p.D317N	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	402					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	p.D402Y(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GTTCTTTCATCGGAAGAGTGC	0.363000														152			27		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76603081	76603081	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76603081G>A	uc001jwn.1	+	2	959	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	KAT6B_uc001jwm.1_Missense_Mutation_p.A156T|KAT6B_uc001jwo.1_Missense_Mutation_p.A156T|KAT6B_uc001jwp.1_Missense_Mutation_p.A156T	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	156	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GCGACTGGGGGCCAAACGCGC	0.527000														112			28		0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59368362	59368362	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59368362G>T	uc002afv.3	+	6	2175	c.1896G>T	c.(1894-1896)caG>caT	p.Q632H	RNF111_uc002afs.3_Missense_Mutation_p.Q632H|RNF111_uc002aft.3_Missense_Mutation_p.Q632H|RNF111_uc002afu.3_Missense_Mutation_p.Q631H|RNF111_uc002afw.3_Missense_Mutation_p.Q632H|RNF111_uc002afx.3_Missense_Mutation_p.Q158H	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	632	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCCAGCCCCAGCCCCCTCCAC	0.507000														240			53		1.67886e-27	2.10385e-27	1	1	0
RMND5B	64777	broad.mit.edu	37	5	177569660	177569660	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177569660G>A	uc011dgf.2	+	1	228	c.216G>A	c.(214-216)gtG>gtA	p.V72V	RMND5B_uc003mim.3_Silent_p.V72V|RMND5B_uc003min.3_Silent_p.V72V|RMND5B_uc003mio.3_Silent_p.V59V|RMND5B_uc003miq.3_Silent_p.V12V	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog B (S. cerevisiae) (RMND5B), mRNA.	72										endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGATACGGTGCAGAAACTGG	0.577000														204			91		0	0	1	0	0
PWP2	5822	broad.mit.edu	37	21	45533719	45533719	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45533719G>A	uc002zeb.3	+	2	307	c.217G>A	c.(217-219)Gtc>Atc	p.V73I		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	73						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGCTATCATCGTCGATGAAGG	0.587000														75			20		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36651007	36651007	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36651007G>T	uc003ape.3	+	2	328	c.54G>T	c.(52-54)gaG>gaT	p.E18D	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Intron|APOL1_uc003apf.3_Missense_Mutation_p.E2D|APOL1_uc011amp.2_Missense_Mutation_p.E2D|APOL1_uc011amq.2_Missense_Mutation_p.E2D|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	2					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						GCGACATGGAGGGAGCTGCTT	0.542000														130			14		3.27435e-08	3.57295e-08	1	1	0
PHF1	5252	broad.mit.edu	37	6	33382914	33382914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33382914C>T	uc003oeh.3	+	11	1468	c.1232C>T	c.(1231-1233)gCa>gTa	p.A411V	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G407G|PHF1_uc010jux.3_Missense_Mutation_p.A211V	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	411					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGCAGAGGGCACTGCAGGTA	0.622000											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		125			17		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868604	57868604	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868604T>C	uc010etw.3	+	3	1896	c.1508T>C	c.(1507-1509)tTt>tCt	p.F503S	ZNF304_uc010ygw.2_Missense_Mutation_p.F456S|ZNF304_uc010etx.3_Missense_Mutation_p.F414S	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GGGAAGGCCTTTGGCTGCAAA	0.473000														141			30		0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44740976	44740976	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44740976A>C	uc002oyu.3	+	5	2598	c.2393A>C	c.(2392-2394)aAg>aCg	p.K798T	ZNF227_uc010xwu.2_Missense_Mutation_p.K747T|ZNF227_uc002oyv.3_Missense_Mutation_p.K798T|ZNF227_uc010xwv.2_Missense_Mutation_p.K747T|ZNF227_uc010xww.2_Missense_Mutation_p.K719T|ZNF227_uc002oyw.3_Missense_Mutation_p.K770T|ZNF227_uc010ejh.3_Missense_Mutation_p.K791T|ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				ACTGGTAAAAAGCTTTAGAAA	0.393000														55			11		0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299257	158299257	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158299257G>A	uc001frx.3	-	3	897	c.789C>T	c.(787-789)ctC>ctT	p.L263L	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	263	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GGGTTGCTCGGAGATACCATG	0.597000														232			53		0	0	1	0	0
ADAT2	134637	broad.mit.edu	37	6	143753712	143753712	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143753712C>T	uc003qjj.3	-	3	435	c.389G>A	c.(388-390)cGa>cAa	p.R130Q		NM_182503	NP_872309	Q7Z6V5	ADAT2_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 2 (ADAT2), mRNA.	130					tRNA processing		hydrolase activity|zinc ion binding	p.R130*(1)		endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACCACCAAATCGTTCATTCTG	0.393000														111			20		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53420462	53420462	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53420462C>T	uc001vhi.3	-	0	2314	c.2110G>A	c.(2110-2112)Gca>Aca	p.A704T	PCDH8_uc001vhj.3_Missense_Mutation_p.A704T	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	704	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CTGACAGTTGCGGTGGTGGTG	0.711000														44			9		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40184962	40184962	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40184962G>A	uc002yxf.3	+	3	568	c.528G>A	c.(526-528)ctG>ctA	p.L176L	ETS2_uc002yxg.3_Silent_p.L36L	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	36					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGGGTCCCTGTTTGCTGTTT	0.398000														128			40		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101559470	101559470	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101559470G>A	uc003uys.4	+	1	266	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	CUX1_uc003uyw.3_Missense_Mutation_p.E47K|CUX1_uc003uyv.3_Missense_Mutation_p.E47K|CUX1_uc003uyt.3_Missense_Mutation_p.E47K|CUX1_uc003uyu.3_Missense_Mutation_p.E47K|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.E36K	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	36					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCGGCTTATCGAACAGAGCCG	0.527000														201			39		0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	205983693	205983693	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:205983693G>A	uc002var.2	+	6	936	c.729G>A	c.(727-729)aaG>aaA	p.K243K	PARD3B_uc010fub.2_Silent_p.K243K|PARD3B_uc002vao.2_Silent_p.K243K|PARD3B_uc002vap.2_Silent_p.K243K|PARD3B_uc002vaq.2_Silent_p.K243K	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	243	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GCAGGTCCAAGCGGGAGGGAC	0.333000														99			22		0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413455	72413455	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72413455G>A	uc003twk.2	+	10	2923	c.2923G>A	c.(2923-2925)Gct>Act	p.A975T	POM121_uc003twj.3_Missense_Mutation_p.A710T|POM121_uc010lam.1_Missense_Mutation_p.A710T	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	975	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)				ATTTGGGGCCGCTGAGGGGCA	0.652000														230			45		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47363955	47363955	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47363955G>A	uc002leb.2	-	36	5358	c.5070C>T	c.(5068-5070)aaC>aaT	p.N1690N	MYO5B_uc002ldz.3_Silent_p.N260N|MYO5B_uc002lea.2_Silent_p.N805N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1690	Dilute.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GAGTCACTGCGTTGATCATGT	0.512000														83			26		0	0	1	0	0
TTC26	79989	broad.mit.edu	37	7	138824680	138824680	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138824680C>T	uc003vus.2	+	3	393	c.279C>T	c.(277-279)gtC>gtT	p.V93V	TTC26_uc003vuq.2_Silent_p.V93V|TTC26_uc011kqm.1_Silent_p.V93V|TTC26_uc003vur.4_Silent_p.V93V|TTC26_uc011kqn.1_Silent_p.V93V|TTC26_uc011kqo.1_Silent_p.V62V|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Silent_p.V93V	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	93							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATTCTGAAGTCTGGGTGAACC	0.383000														83			13		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41004582	41004582	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41004582A>G	uc003jmj.4	-	36	4550	c.4060T>C	c.(4060-4062)Tat>Cat	p.Y1354H	HEATR7B2_uc003jmi.4_Missense_Mutation_p.Y909H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1354							binding	p.L1353M(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCTAGGTGATACAGGCCTCTG	0.413000														107			7		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595695	31595695	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31595695C>T	uc003nvb.4	+	11	1693	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.R482C	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	482	2 X type B repeats.|4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding	p.R482H(1)		breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCAAGAAGAGCGCCGGGCAGC	0.632000														286			69		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91774720	91774720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91774720C>T	uc010aty.3	-	16	3135	c.2981G>A	c.(2980-2982)cGc>cAc	p.R994H		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	994					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCTAACTGGCGATTTAGGCT	0.493000														76			14		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940700	49940700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49940700G>A	uc003cxy.4	-	0	607	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	MST1R_uc011bdc.2_Missense_Mutation_p.P115S|MST1R_uc011bdd.2_Missense_Mutation_p.P115S|MST1R_uc011bde.1_Missense_Mutation_p.P115S|MST1R_uc011bdf.1_Missense_Mutation_p.P115S|MST1R_uc011bdg.2_Missense_Mutation_p.P115S	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	115	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GTGTCACCGGGAGGGCCGTGG	0.677000														276			15		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41009865	41009865	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41009865C>T	uc002ony.3	+	11	1577	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	SPTBN4_uc002onx.3_Silent_p.A497A|SPTBN4_uc002onz.3_Silent_p.A497A	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	497					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)			CATTGGCAGCCGAAGGCTACT	0.662000														125			7		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158911953	158911953	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158911953A>G	uc001ftb.3	+	4	1016	c.766A>G	c.(766-768)Aac>Gac	p.N256D	PYHIN1_uc001ftc.3_Missense_Mutation_p.N247D|PYHIN1_uc001ftd.3_Missense_Mutation_p.N256D|PYHIN1_uc001fte.3_Missense_Mutation_p.N247D	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	256	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GAAGGTTTTAAACATCAACTT	0.328000														90			23		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35896132	35896132	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35896132G>A	uc002hoa.3	-	18	3698	c.3615C>T	c.(3613-3615)atC>atT	p.I1205I	SYNRG_uc010wde.2_Silent_p.I1127I|SYNRG_uc010wdf.2_Silent_p.I1127I|SYNRG_uc002hoc.3_Silent_p.I1126I|SYNRG_uc002hoe.3_Silent_p.I1127I|SYNRG_uc002hod.3_Silent_p.I1082I|SYNRG_uc010wdg.2_Silent_p.I999I|SYNRG_uc002hob.3_Silent_p.I1205I	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1205					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ATACTTTATCGATGTCCTTCA	0.478000														81			18		0	0	1	0	0
DHRS1	115817	broad.mit.edu	37	14	24768170	24768170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24768170G>A	uc001woj.2	-	1	412	c.143C>T	c.(142-144)gCt>gTt	p.A48V	C14orf21_uc001wol.1_5'Flank|DHRS1_uc001wok.3_Missense_Mutation_p.A48V	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 1 (DHRS1), transcript variant 2, mRNA.	48						endoplasmic reticulum	binding|oxidoreductase activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		CACCTCCTGAGCAACAACGCG	0.557000														119			13		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250690	18250690	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18250690C>T	uc001ipo.2	+	2	715	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	SLC39A12_uc001ipn.2_Silent_p.L148L|SLC39A12_uc001ipp.2_Silent_p.L148L|SLC39A12_uc010qck.1_Silent_p.L14L	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	148					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						ACACAGCCTACTGAGCCTCAG	0.393000														91			24		0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26490219	26490219	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26490219G>A	uc001isn.2	+	32	4931	c.4571G>A	c.(4570-4572)aGa>aAa	p.R1524K	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1524					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAACGAAGACCAAGGAAA	0.249000														20			3		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99465579	99465579	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99465579G>A	uc002bul.3	+	10	2454	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	IGF1R_uc010urq.2_Missense_Mutation_p.D802N|IGF1R_uc010bon.3_Missense_Mutation_p.D802N|IGF1R_uc010boo.1_5'Flank	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	802					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTACCGCATCGATATCCACAG	0.517000														130			32		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18138215	18138215	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18138215T>C	uc002gsp.3	+	8	1029	c.968T>C	c.(967-969)gTa>gCa	p.V323A		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	323					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CGCCACTGTGTAAGTGTGCTT	0.582000														71			10		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200628173	200628173	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200628173C>A	uc009wzk.3	-	3	1287	c.1044G>T	c.(1042-1044)aaG>aaT	p.K348N	DDX59_uc010ppl.1_Missense_Mutation_p.K348N	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	348	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTACCACAATCTTTACACCAC	0.308000														129			26		2.79863e-10	3.14589e-10	1	1	0
IDI1	3422	broad.mit.edu	37	10	1088604	1088604	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1088604G>A	uc001iga.3	-	3	623	c.505C>T	c.(505-507)Ctg>Ttg	p.L169L	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Silent_p.L113L|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Silent_p.L113L	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	112	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		TCAGCTTTCAGCCGTCTCTGT	0.443000														105			19		0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12334299	12334299	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12334299C>T	uc001rah.4	-	5	1193	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.D351N	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	351	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AGAACAATGTCTGTAAAATCT	0.423000														147			8		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212615400	212615400	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212615400G>A	uc002veg.1	-	4	684	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	ERBB4_uc002veh.1_Missense_Mutation_p.R196C|ERBB4_uc010zji.1_Missense_Mutation_p.R196C|ERBB4_uc010zjj.1_Missense_Mutation_p.R196C|ERBB4_uc010fut.1_Missense_Mutation_p.R196C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	196	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCCCAGCAACGGCCAGTACAG	0.453000										TSP Lung(8;0.080)				83			21		0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286372	1286372	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1286372C>T	uc002wet.3	+	6	1972	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	SNPH_uc002wes.3_Missense_Mutation_p.R387W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	387					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACCCCACAGCGGCCTGGTGC	0.657000														50			17		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31325027	31325027	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31325027C>T	uc010dmg.1	+	11	5270	c.5215C>T	c.(5215-5217)Cgt>Tgt	p.R1739C	ASXL3_uc002kxq.2_Missense_Mutation_p.R1446C	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTCAGGCTGTCGTCTGTCCTC	0.542000														108			22		0	0	1	0	0
NRIP3	56675	broad.mit.edu	37	11	9009763	9009763	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9009763G>A	uc001mhg.2	-	1	355	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	NRIP3_uc010rbu.1_Missense_Mutation_p.R81C	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA.	81					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		CAAGGGACACGGGGACCGCTT	0.493000														196			45		0	0	1	0	0
RNF115	27246	broad.mit.edu	37	1	145663313	145663313	+	Missense_Mutation	SNP	G	A	A	rs148749353		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145663313G>A	uc001eoj.3	+	3	578	c.374G>A	c.(373-375)cGg>cAg	p.R125Q		NM_014455	NP_055270	Q9Y4L5	RN115_HUMAN	Homo sapiens ring finger protein 115 (RNF115), mRNA.	125					protein autoubiquitination	cytosol	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13						CCATTGGGTCGGAGATACAGA	0.458000														141			9		0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20940628	20940628	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20940628G>A	uc001vxo.4	+	1	319	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	PNP_uc010ahm.2_Missense_Mutation_p.R58Q|PNP_uc010ahn.3_Missense_Mutation_p.R58Q|PNP_uc021rns.1_5'Flank	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	58					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	p.P57P(1)|p.P57S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	AACTTTCCCCGAAGTACAGGT	0.468000														63			5		0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76623953	76623953	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76623953C>T	uc003pih.1	+	33	3892	c.3613C>T	c.(3613-3615)Caa>Taa	p.Q1205*	MYO6_uc003pii.1_Nonsense_Mutation_p.Q1182*|MYO6_uc003pij.1_Nonsense_Mutation_p.Q153*	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1214					DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATTGCCCGGCAAATGGAACT	0.463000														210			40		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16532534	16532534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16532534C>T	uc001ayc.1	-	7	1480	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	ARHGEF19_uc009voo.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	448	DH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCTGAAGCGCAGCACATC	0.642000														13			3		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145007511	145007511	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007511C>A	uc003zaf.1	-	12	1853	c.1683G>T	c.(1681-1683)cgG>cgT	p.R561R	PLEC_uc003zab.1_Silent_p.R424R|PLEC_uc003zac.1_Silent_p.R428R|PLEC_uc003zad.2_Silent_p.R424R|PLEC_uc003zae.1_Silent_p.R392R|PLEC_uc003zag.1_Silent_p.R402R|PLEC_uc003zah.2_Silent_p.R410R|PLEC_uc003zaj.2_Silent_p.R451R	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	561	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGCCAGCAGCCGGACATCCT	0.647000														150			39		4.67007e-22	5.74789e-22	1	1	0
SSBP4	170463	broad.mit.edu	37	19	18541673	18541673	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18541673C>A	uc002niy.3	+	4	615	c.302C>A	c.(301-303)cCc>cAc	p.P101H	SSBP4_uc010ebp.3_Missense_Mutation_p.P101H|SSBP4_uc002niz.3_Missense_Mutation_p.P101H	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	101						nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						GCCCCCAGCCCCGTTATGGGG	0.662000														77			16		4.7546e-09	5.25358e-09	1	1	0
AARS	16	broad.mit.edu	37	16	70287683	70287683	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70287683C>A	uc002eyn.1	-	18	2651	c.2541G>T	c.(2539-2541)caG>caT	p.Q847H	EXOSC6_uc002eym.1_5'Flank|AARS_uc010vlu.1_Missense_Mutation_p.Q677H	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	847					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TGTCGATGAACTGCTTCGTCT	0.602000											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		155			8		1.12685e-05	1.18529e-05	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135581775	135581775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135581775G>A	uc004ezw.3	+	2	627	c.205G>A	c.(205-207)Gct>Act	p.A69T	HTATSF1_uc004ezx.3_Missense_Mutation_p.A69T	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	69					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					AGATTTCATTGCTACATATCA	0.393000														159			45		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165491178	165491178	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165491178C>T	uc003fem.4	-	3	1961	c.1801G>A	c.(1801-1803)Ggt>Agt	p.G601S	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	601					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AATTAGAGACCCACACAACTT	0.333000														24			5		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51458120	51458120	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51458120A>G	uc003dbe.2	-	13	2330	c.2145T>C	c.(2143-2145)agT>agC	p.S715S	VPRBP_uc021wys.1_Silent_p.S714S|VPRBP_uc003dbf.1_Silent_p.S44S	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	768					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GGACAGTGCTACTGCGAGACA	0.567000														192			30		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47858498	47858498	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47858498G>A	uc001ngm.3	-	5	968	c.883C>T	c.(883-885)Cat>Tat	p.H295Y	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.H295Y	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	295					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGGCATCATGCTCCACACAA	0.413000														79			26		0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107569959	107569959	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107569959C>T	uc003vev.2	-	27	4876	c.4715G>A	c.(4714-4716)cGt>cAt	p.R1572H	LAMB1_uc003vew.2_Missense_Mutation_p.R1548H	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1548	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTCGTTCACGTATATCTTC	0.423000														94			19		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36038073	36038073	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36038073C>T	uc003jjz.2	-	5	1253	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N	UGT3A2_uc011cos.2_Missense_Mutation_p.S340N|UGT3A2_uc011cot.2_Missense_Mutation_p.S72N	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	374						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)			CTCCATTATGCTATTCTGCCC	0.493000														149			28		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50406636	50406636	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50406636C>T	uc002xwh.4	-	1	2487	c.2386G>A	c.(2386-2388)Gaa>Aaa	p.E796K	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	796					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGATGCTTTCGGCTTGACTA	0.527000														105			31		0	0	1	0	0
ZNF695	57116	broad.mit.edu	37	1	247163304	247163304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247163304G>A	uc009xgu.3	-	1	261	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ZNF695_uc001ica.3_Non-coding_Transcript|ZNF695_uc001icb.2_Non-coding_Transcript|ZNF695_uc009xgt.2_Non-coding_Transcript|ZNF695_uc001ibx.3_Missense_Mutation_p.R26W|ZNF695_uc001iby.3_Non-coding_Transcript|ZNF695_uc001icc.3_Missense_Mutation_p.R26W	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	Homo sapiens zinc finger protein 695 (ZNF695), transcript variant 1, mRNA.	26	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACAAACTCCGCTGAGCTGGG	0.433000														90			31		0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122718760	122718760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122718760C>T	uc003ktk.3	-	12	1896	c.1780G>A	c.(1780-1782)Gca>Aca	p.A594T	CEP120_uc010jcz.2_Missense_Mutation_p.A568T|CEP120_uc011cwq.2_Missense_Mutation_p.A403T	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	594						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAAGATCTGCTATCCTGTTA	0.279000														30			7		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129781471	129781471	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129781471T>C	uc021zfb.1	+	49	7097	c.6992_splice	c.e49+2	p.S2331_splice	LAMA2_uc003qbn.3_Splice_Site_p.S2329_splice|LAMA2_uc003qbo.3_Splice_Site_p.S2329_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2331					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACTGTCAGGTTAGTTGAGAT	0.408000														95			22		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	53010408	53010408	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53010408G>T	uc003pbp.3	-	1	232	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	GCM1_uc010jzr.2_Missense_Mutation_p.S8Y	NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	8						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTTGTCTTCAGAATCAAAGTC	0.413000														121			33		1.22384e-17	1.4705e-17	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202742404	202742404	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202742404C>T	uc009xag.3	-	3	534	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	KDM5B_uc001gyf.3_Missense_Mutation_p.E140K|KDM5B_uc001gyg.1_5'UTR	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	140	ARID.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AATCCACCTTCTTCTGCAACT	0.403000														101			6		0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139416452	139416452	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139416452T>G	uc003vvf.4	-	1	653	c.382A>C	c.(382-384)Aaa>Caa	p.K128Q	HIPK2_uc003vvd.4_Missense_Mutation_p.K128Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	128	Transcriptional corepression (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AGTCCACATTTTTGGTAGGTA	0.542000														87			8		0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33623338	33623338	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33623338A>G	uc021wvc.1	-	22	2536	c.2325T>C	c.(2323-2325)agT>agC	p.S775S	CLASP2_uc021wva.1_5'UTR|CLASP2_uc021wvb.1_Silent_p.S541S|CLASP2_uc011axt.1_Silent_p.S367S	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	775										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AGCGAACAGGACTTGTGTCTC	0.517000														39			12		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139368891	139368891	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139368891C>A	uc004chx.3	-	2	3486	c.3177G>T	c.(3175-3177)caG>caT	p.Q1059H	SEC16A_uc004chv.4_Missense_Mutation_p.Q449H|SEC16A_uc004chw.3_Missense_Mutation_p.Q1059H|SEC16A_uc010nbn.3_Missense_Mutation_p.Q1059H|SEC16A_uc010nbo.1_Missense_Mutation_p.Q1059H	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	881	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCACCAGCTCCTGCTGGGCTC	0.587000														67			16		9.16793e-09	1.00855e-08	1	1	0
KRT12	3859	broad.mit.edu	37	17	39022953	39022953	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39022953T>A	uc002hvk.2	-	0	510	c.486A>T	c.(484-486)gaA>gaT	p.E162D		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	162	Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				TTCCTCGTGTTTCATACCATT	0.403000														193			41		0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1034966	1034966	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1034966C>T	uc003jbt.1	+	6	527	c.522C>T	c.(520-522)acC>acT	p.T174T	NKD2_uc010itf.1_Silent_p.T174T	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	174	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.T174T(2)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			TGAAGCTAACCGTCAGCCCTG	0.617000														56			12		0	0	1	0	0
FAM9B	171483	broad.mit.edu	37	X	9001030	9001030	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9001030A>C	uc004csh.3	-	0	322	c.133T>G	c.(133-135)Ttt>Gtt	p.F45V	FAM9B_uc011mhu.2_5'UTR			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	0						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				GCCGCCATAAATTGAGCCTCC	0.602000														83			28		0	0	1	0	0
ATP2C1	27032	broad.mit.edu	37	3	130675022	130675022	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130675022A>C	uc011bli.2	+	10	1230	c.934_splice	c.e10+1	p.G312_splice	ATP2C1_uc011blg.2_Splice_Site_p.G312_splice|ATP2C1_uc011blh.2_Splice_Site_p.G273_splice|ATP2C1_uc003enk.3_Splice_Site_p.G262_splice|ATP2C1_uc003enl.3_Splice_Site_p.G278_splice|ATP2C1_uc003enm.3_Splice_Site_p.G278_splice|ATP2C1_uc003enn.3_Splice_Site_p.G262_splice|ATP2C1_uc003eno.3_Splice_Site_p.G278_splice|ATP2C1_uc003enp.3_Splice_Site_p.G278_splice|ATP2C1_uc003ent.3_Splice_Site_p.G278_splice|ATP2C1_uc003ens.3_Splice_Site_p.G278_splice	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	278					ATP biosynthetic process|Golgi calcium ion homeostasis|Golgi calcium ion transport|actin cytoskeleton reorganization|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	TTGGTATAATAGGTAAGAGAA	0.338000									Hailey-Hailey disease					52			10		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960721	33960721	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960721C>T	uc001bxj.4	+	7	2944	c.2777C>T	c.(2776-2778)aCt>aTt	p.T926I	ZSCAN20_uc009vui.3_Missense_Mutation_p.T925I	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	926					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CGCACCCACACTGGAGAGAAG	0.527000														147			16		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101090890	101090890	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101090890T>G	uc003dut.3	-	6	869	c.758A>C	c.(757-759)gAt>gCt	p.D253A	SENP7_uc003duu.3_Missense_Mutation_p.D188A|SENP7_uc003duv.3_Missense_Mutation_p.D220A|SENP7_uc003duw.3_Missense_Mutation_p.D187A|SENP7_uc003dux.3_Missense_Mutation_p.D89A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	253					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGAAATGCCATCATCCTTTCT	0.338000														59			17		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383390	4383390	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4383390G>A	uc002cwc.1	+	1	281	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	72	Interaction with CTNND1 (By similarity).|Transcription activation (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTGGAGGGACGCTTTTCAGCA	0.632000														91			6		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131795943	131795943	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:131795943G>A	uc003ytd.4	-	16	3518	c.3262C>T	c.(3262-3264)Cgg>Tgg	p.R1088W	ADCY8_uc010mds.3_Missense_Mutation_p.R957W	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1088					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TCACCAATCCGGAGTTCAAAA	0.512000										HNSCC(32;0.087)				77			12		0	0	1	0	0
GRB14	2888	broad.mit.edu	37	2	165353553	165353553	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:165353553A>G	uc002ucl.3	-	11	1888	c.1347T>C	c.(1345-1347)gcT>gcC	p.A449A	GRB14_uc010zcv.2_Silent_p.A362A	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	449	SH2.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TCAATCGCTGAGCCTCATCTC	0.383000														96			5		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793568	65793568	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793568C>T	uc001ogt.3	-	0	421	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	95	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGACCAAAGCCTGTGGGGCCA	0.602000														260			56		0	0	1	0	0
KCNA7	3743	broad.mit.edu	37	19	49573470	49573470	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49573470G>A	uc002pmg.3	-	1	1577	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	407						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CAGCCTCTTCGCCCTCTGTCT	0.592000														117			29		0	0	1	0	0
USP19	10869	broad.mit.edu	37	3	49153749	49153749	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49153749C>T	uc003cwd.2	-	7	1335	c.1016G>A	c.(1015-1017)gGg>gAg	p.G339E	USP19_uc003cwa.3_Missense_Mutation_p.G145E|USP19_uc003cwb.3_Missense_Mutation_p.G425E|USP19_uc003cvz.4_Missense_Mutation_p.G440E|USP19_uc011bcg.2_Missense_Mutation_p.G430E|USP19_uc003cwc.2_Missense_Mutation_p.G95E|USP19_uc011bch.2_Missense_Mutation_p.G440E|USP19_uc011bci.2_Missense_Mutation_p.G425E	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	339	CS 2.				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTGTGGGGCCCACAGCCCGG	0.627000														103			24		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48809668	48809668	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48809668A>G	uc002rwp.2	+	1	2010	c.1896A>G	c.(1894-1896)gtA>gtG	p.V632V	STON1-GTF2A1L_uc021vhf.1_Silent_p.V632V|STON1-GTF2A1L_uc002rwo.4_Silent_p.V632V|STON1-GTF2A1L_uc010fbm.3_Silent_p.V632V|STON1-GTF2A1L_uc010yol.2_Silent_p.V632V	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	632					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.V632L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGCAGTGGTATGGAAGATAG	0.418000														88			22		0	0	1	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228587	95228587	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95228587C>T	uc001tdk.2	+	0		c.414C>T								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		GGAACTGAACCAGGAGGTCAC	0.542000														12			3		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905960	50905960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50905960G>A	uc010eny.3	+	6	933	c.932G>A	c.(931-933)cGc>cAc	p.R311H	POLD1_uc002psb.4_Missense_Mutation_p.R311H|POLD1_uc002psc.4_Missense_Mutation_p.R311H|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	311					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCCCTTGCGCGTGCTCAGC	0.672000								DNA polymerases (catalytic subunits)						67			10		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131546055	131546055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131546055C>T	uc003kwh.3	-	5	1195	c.631G>A	c.(631-633)Gac>Aac	p.D211N	P4HA2_uc003kwg.3_Missense_Mutation_p.D211N|P4HA2_uc003kwi.3_Missense_Mutation_p.D211N|P4HA2_uc003kwk.3_Missense_Mutation_p.D211N|P4HA2_uc003kwl.3_Missense_Mutation_p.D211N|P4HA2_uc003kwj.3_Missense_Mutation_p.D211N	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	211						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTGAGGTAGTCCAGCACCTGT	0.567000														318			42		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15291787	15291787	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15291787C>T	uc002nan.3	-	17	3055	c.2979G>A	c.(2977-2979)acG>acA	p.T993T	NOTCH3_uc002nao.1_Silent_p.T941T	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	993	EGF-like 25.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACTGCGGGCCCGTGAAGCTCT	0.682000														25			4		0	0	1	0	0
MAPKAPK5	8550	broad.mit.edu	37	12	112326328	112326328	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112326328C>T	uc001tta.3	+	10	1265	c.1006C>T	c.(1006-1008)Cag>Tag	p.Q336*	MAPKAPK5_uc001tsz.3_Nonsense_Mutation_p.Q336*	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	336					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TCACGCGGAACAGTTGGCCAA	0.493000														149			52		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30418685	30418685	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30418685G>T	uc002wwq.2	+	8	1390	c.1288G>T	c.(1288-1290)Gca>Tca	p.A430S	MYLK2_uc002wws.2_Missense_Mutation_p.A47S|MYLK2_uc010gdw.1_5'Flank	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	430	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTTGGCCTGGCACGGAGGTA	0.622000														307			64		4.10029e-35	5.19271e-35	1	1	0
USH2A	7399	broad.mit.edu	37	1	216270488	216270488	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216270488A>G	uc001hku.1	-	21	5082	c.4695T>C	c.(4693-4695)aaT>aaC	p.N1565N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1565	Laminin G-like 1.				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)		ACTCTTCCTGATTGCCAGGTG	0.378000										HNSCC(13;0.011)				88			5		0	0	1	0	0
MSRB3	253827	broad.mit.edu	37	12	65856975	65856975	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65856975G>A	uc001ssn.3	+	5	578	c.452G>A	c.(451-453)cGt>cAt	p.R151H	MSRB3_uc009zqp.3_Missense_Mutation_p.R144H|MSRB3_uc001ssm.3_Missense_Mutation_p.R144H|MSRB3_uc021qzy.1_Missense_Mutation_p.R144H	NM_198080	NP_932346	Q8IXL7	MSRB3_HUMAN	Homo sapiens methionine sulfoxide reductase B3 (MSRB3), transcript variant 1, mRNA.	151					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		GATGGGCCTCGTCCAACTGGG	0.522000														235			44		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216312	55216312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55216312C>T	uc003pcm.1	+	4	718	c.632C>T	c.(631-633)gCa>gTa	p.A211V		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	211						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGACATGTGCAGTGAACATG	0.428000														127			18		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35443843	35443843	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35443843C>T	uc021wcx.1	-	4	2342	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	SOGA1_uc002xgd.1_Missense_Mutation_p.D430N	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	430										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						ACCAGGACATCGATGGCCTTA	0.647000														41			5		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151139352	151139352	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151139352C>T	uc011eem.1	+	11	1577	c.1489_splice	c.e11+1	p.H497_splice	PLEKHG1_uc011eel.1_Splice_Site_p.H478_splice|PLEKHG1_uc003qny.1_Splice_Site_p.H438_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.H438_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	438					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GGATGCCATTCGTAAGTTTTA	0.303000														92			18		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49703979	49703979	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49703979C>T	uc002pmw.3	+	18	2998	c.2890C>T	c.(2890-2892)Cgc>Tgc	p.R964C	TRPM4_uc010emu.3_Missense_Mutation_p.R819C|TRPM4_uc010yak.2_Missense_Mutation_p.R428C|TRPM4_uc002pmx.3_Missense_Mutation_p.R790C|TRPM4_uc010emv.3_Missense_Mutation_p.R849C|TRPM4_uc010yal.2_Missense_Mutation_p.R610C|TRPM4_uc002pmy.3_Missense_Mutation_p.R306C	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	964					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AAGTATCCTGCGCCGCGTCTT	0.617000														135			19		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773074	58773074	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773074C>A	uc010euo.3	+	6	1576	c.1102C>A	c.(1102-1104)Ctc>Atc	p.L368I	ZNF544_uc010yhw.1_Non-coding_Transcript|ZNF544_uc010yhx.2_Missense_Mutation_p.L340I|ZNF544_uc010yhy.2_Missense_Mutation_p.L340I|ZNF544_uc002qrt.4_Missense_Mutation_p.L226I|ZNF544_uc002qru.4_Missense_Mutation_p.L226I|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		CTGTTGTAAGCTCATACACCA	0.438000														89			21		1.15919e-05	1.21889e-05	1	1	0
APLF	200558	broad.mit.edu	37	2	68753207	68753207	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68753207G>A	uc002sep.3	+	5	810	c.637G>A	c.(637-639)Gga>Aga	p.G213R	APLF_uc010fdf.2_Missense_Mutation_p.G189R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	213					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TGTAATCCAGGGAAGTGGAAA	0.308000														45			12		0	0	1	0	0
FANCA	2175	broad.mit.edu	37	16	89815125	89815125	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89815125G>A	uc002fou.1	-	32	3332	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	FANCA_uc010vpn.1_Missense_Mutation_p.A1097V|FANCA_uc010vpo.2_Missense_Mutation_p.A183V	NM_000135	NP_000126	O15360	FANCA_HUMAN	Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA.	1097					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGCTGTTCTGCCTGGAAGCT	0.592000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					61			22		0	0	1	0	0
SHROOM1	134549	broad.mit.edu	37	5	132160428	132160428	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:132160428C>A	uc003kxx.3	-	5	1925	c.1120G>T	c.(1120-1122)Gag>Tag	p.E374*	SHROOM1_uc003kxy.2_Nonsense_Mutation_p.E374*	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	374					actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGCAGGTCTCTGAGACCCTC	0.582000														177			11		4.68919e-08	5.11014e-08	1	1	0
PIP5K1B	8395	broad.mit.edu	37	9	71555659	71555659	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71555659C>T	uc004agu.3	+	13	1760	c.1455C>T	c.(1453-1455)taC>taT	p.Y485Y	PIP5K1B_uc011lrq.2_Silent_p.Y485Y|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.	485						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)		CTTCCTTATACGTCAATGAGC	0.473000														196			53		0	0	1	0	0
C17orf57	124989	broad.mit.edu	37	17	45481348	45481348	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45481348G>T	uc002iln.3	+	18	2553	c.2122G>T	c.(2122-2124)Gaa>Taa	p.E708*	C17orf57_uc002ilm.3_Nonsense_Mutation_p.E612*	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	708							calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						GTCACCTAAAGAAGAGGTAGA	0.358000														74			12		3.27435e-08	3.57295e-08	1	1	0
ZNF365	22891	broad.mit.edu	37	10	64382994	64382994	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64382994T>G	uc001jmc.2	+	4	1428	c.1113T>G	c.(1111-1113)tcT>tcG	p.S371S	ZNF365_uc001jmd.1_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	125										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCTGGACGTCTTCCACGGCTA	0.458000														175			34		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27849349	27849349	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27849349C>T	uc002hdz.2	+	16	2154	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	654					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGCTACTCCGACAGCATGA	0.423000														104			14		0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475629	75475629	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:75475629C>T	uc003dpp.4	-	6	968	c.609G>A	c.(607-609)gaG>gaA	p.E203E	FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Silent_p.E111E|FAM86DP_uc003dpr.4_Non-coding_Transcript					Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																		GCTGGCACGTCTCTGGGTTGT	0.652000														196			40		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111111123	111111123	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111111123G>A	uc001vqx.3	+	21	1727	c.1438G>A	c.(1438-1440)Gct>Act	p.A480T		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	480	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)			TGCAGGTGACGCTGGGGAATG	0.632000														243			11		0	0	1	0	0
TTC27	55622	broad.mit.edu	37	2	33036232	33036232	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33036232C>T	uc002rom.3	+	16	2413	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	TTC27_uc010ymx.2_Silent_p.L664L	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	714							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCTGGAGGCTGTATGCCCA	0.453000														60			15		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44685096	44685096	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44685096G>A	uc003tln.3	+	2	552	c.393G>A	c.(391-393)caG>caA	p.Q131Q	OGDH_uc003tlm.3_Silent_p.Q131Q|OGDH_uc011kbx.2_Silent_p.Q131Q|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Silent_p.Q131Q|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	131					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGGCAGTGCAGTCGCTCATCA	0.607000														135			41		0	0	1	0	0
OR4N2	390429	broad.mit.edu	37	14	20296521	20296521	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20296521A>G	uc010tkv.2	+	0	914	c.914A>G	c.(913-915)cAc>cGc	p.H305R		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTAATAAGCACATAGCCTGA	0.343000														84			13		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24922657	24922657	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24922657T>C	uc001ywo.3	+	0	2117	c.1643T>C	c.(1642-1644)aTg>aCg	p.M548T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	548					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGCAAGCCTATGAATTCCACG	0.488000														277			73		0	0	1	0	0
PCDH1	5097	broad.mit.edu	37	5	141243182	141243182	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141243182G>A	uc003llp.3	-	2	2831	c.2714C>T	c.(2713-2715)gCc>gTc	p.A905V	PCDH1_uc011dbf.2_Missense_Mutation_p.A883V|PCDH1_uc003llq.3_Missense_Mutation_p.A905V	NM_032420	NP_115796	Q08174	PCDH1_HUMAN	Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA.	905					cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TCCCTTGGAGGCCTTGCCACT	0.577000														271			57		0	0	1	0	0
C1orf210	149466	broad.mit.edu	37	1	43748499	43748499	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43748499C>A	uc001cit.4	-	2	533	c.299G>T	c.(298-300)gGc>gTc	p.G100V	C1orf210_uc021omn.1_Missense_Mutation_p.G100V	NM_182517	NP_872323	Q8IVY1	CA210_HUMAN	Homo sapiens chromosome 1 open reading frame 210 (C1orf210), transcript variant 1, mRNA.	100						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCCAGCTCGCCAGTCCCAGG	0.592000														139			7		6.5536e-12	7.516e-12	1	1	0
SLC2A1	6513	broad.mit.edu	37	1	43394659	43394659	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43394659C>T	uc001cik.2	-	7	1543	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	340					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCAGCGAGGCCTATGAGGTGC	0.612000														247			52		0	0	1	0	0
FBLN5	10516	broad.mit.edu	37	14	92353550	92353550	+	Silent	SNP	G	A	A	rs148209555		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92353550G>A	uc010aue.3	-	7	1322	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_uc010aud.3_Silent_p.G247G|FBLN5_uc001xzx.4_Silent_p.G242G	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547000														289			58		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889699	21889699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21889699G>A	uc001bet.3	+	4	651	c.394G>A	c.(394-396)Gca>Aca	p.A132T	ALPL_uc010odo.2_Missense_Mutation_p.A77T|ALPL_uc010odp.2_Missense_Mutation_p.A55T|ALPL_uc010odn.2_Missense_Mutation_p.A80T|ALPL_uc001beu.4_Missense_Mutation_p.A132T	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	132			A -> V (in HOPS).		response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GGGGGTAAGCGCAGCCACTGA	0.667000														177			24		0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88485522	88485522	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88485522G>A	uc002ssy.4	+	7	3026	c.1335G>A	c.(1333-1335)gaG>gaA	p.E445E	THNSL2_uc002ssw.4_3'UTR|THNSL2_uc002sta.4_3'UTR|THNSL2_uc010fhe.3_3'UTR|THNSL2_uc021vkr.1_Silent_p.E445E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	445					threonine biosynthetic process		threonine synthase activity	p.L444L(1)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						TAGCCCTGGAGCACAAGGAGA	0.632000														32			9		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62465611	62465611	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62465611C>T	uc003xuj.3	-	19	1874	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	ASPH_uc011leg.2_Missense_Mutation_p.M506I	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	535					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CAACCCTCTGCATGGCATCCC	0.413000														257			46		0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27427125	27427125	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27427125G>T	uc001bnm.3	-	11	2747	c.2121C>A	c.(2119-2121)gcC>gcA	p.A707A	SLC9A1_uc001bnl.3_Silent_p.A211A|SLC9A1_uc010ofk.2_Silent_p.A368A	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	707					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	TCGGCTCATAGGCCAGTGGGT	0.642000														353			36		6.05902e-23	7.48453e-23	1	1	0
TOPBP1	11073	broad.mit.edu	37	3	133375563	133375563	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133375563G>T	uc003eps.3	-	4	634	c.502C>A	c.(502-504)Ctt>Att	p.L168I		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	Homo sapiens topoisomerase (DNA) II binding protein 1 (TOPBP1), mRNA.	168	BRCT 1.				DNA repair|response to ionizing radiation	PML body|microtubule organizing center|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						CAAGAGGGAAGCAAAATAGGT	0.323000								Other conserved DNA damage response genes						127			19		6.94344e-10	7.75807e-10	1	1	0
EMR1	2015	broad.mit.edu	37	19	6924844	6924844	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6924844G>A	uc002mfw.3	+	14	1985	c.1947G>A	c.(1945-1947)aaG>aaA	p.K649K	EMR1_uc010dvc.3_Intron|EMR1_uc010dvb.3_Silent_p.K597K|EMR1_uc010xji.2_Silent_p.K508K|EMR1_uc010xjj.2_Silent_p.K472K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	649					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.A648T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTGGCGAAGACTCTCTTCC	0.582000														116			23		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484516	31484516	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484516C>A	uc003ajl.2	+	3	459	c.218C>A	c.(217-219)gCt>gAt	p.A73D	SMTN_uc003ajk.2_Missense_Mutation_p.A73D|SMTN_uc003ajm.2_Missense_Mutation_p.A73D|SMTN_uc011ale.2_Missense_Mutation_p.A127D|SMTN_uc011alf.2_Missense_Mutation_p.A129D|SMTN_uc003ajn.2_Missense_Mutation_p.A65D|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	73					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CAGCGGGAAGCTGAGCAGCGG	0.627000														260			25		3.69857e-22	4.5545e-22	1	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148996246	148996246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148996246C>T	uc003lra.1	+	4	639	c.575C>T	c.(574-576)gCc>gTc	p.A192V		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	192	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GATGCCAGTGCCTATCCTGTC	0.522000														107			20		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48263816	48263816	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48263816G>A	uc002iqm.3	-	48	3993	c.3867C>T	c.(3865-3867)gtC>gtT	p.V1289V	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1289	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTTGCAGAAGACTTTGATGG	0.567000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							157			49		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151878668	151878668	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151878668G>T	uc003wla.3	-	35	6496	c.6277C>A	c.(6277-6279)Cca>Aca	p.P2093T	MLL3_uc003wkz.3_Missense_Mutation_p.P1154T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2093	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGACTATATGGATCATTTGAC	0.453000			N		medulloblastoma									100			26		9.57634e-11	1.08211e-10	1	1	0
CCDC15	80071	broad.mit.edu	37	11	124857477	124857477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124857477G>A	uc001qbm.4	+	7	1614	c.1355G>A	c.(1354-1356)aGa>aAa	p.R452K		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	452						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TTCCTACCCAGAGACCAGCAT	0.408000														115			24		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390732	208390732	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208390732T>A	uc001hgz.3	-	1	1294	c.536A>T	c.(535-537)gAt>gTt	p.D179V	PLXNA2_uc001hha.4_Missense_Mutation_p.D233V	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	179	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGCTTGCCATCCTCACCCTC	0.592000														305			138		0	0	1	0	0
TMEM54	113452	broad.mit.edu	37	1	33360427	33360427	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33360427G>T	uc001bwi.1	-	5	762	c.648C>A	c.(646-648)agC>agA	p.S216R	TMEM54_uc001bwj.1_Missense_Mutation_p.S163R|TMEM54_uc001bwk.1_Missense_Mutation_p.S196R	NM_033504	NP_277039	Q969K7	TMM54_HUMAN	Homo sapiens transmembrane protein 54 (TMEM54), mRNA.	216						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAGGCTCAGAGCTGGTGCAGC	0.627000														115			38		5.59293e-11	6.33539e-11	1	1	0
MYH4	4622	broad.mit.edu	37	17	10360803	10360803	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10360803G>A	uc002gmn.3	-	15	1942	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	611	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGGTACAGCCCCACCACA	0.512000														145			32		0	0	1	0	0
RABGEF1	27342	broad.mit.edu	37	7	66274251	66274251	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66274251C>T	uc003tvf.3	+	12	2291	c.1075C>T	c.(1075-1077)Cct>Tct	p.P359S	RABGEF1_uc003tvg.3_Missense_Mutation_p.P294S|RABGEF1_uc003tvh.3_Missense_Mutation_p.P486S|RABGEF1_uc010lag.3_Missense_Mutation_p.P486S|RABGEF1_uc011kee.2_Missense_Mutation_p.P500S|RABGEF1_uc003tvi.3_Missense_Mutation_p.P320S	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	703					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	p.N358S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						ACCACTGCAACCTCAAGTTTA	0.398000														76			20		0	0	1	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110035963	110035963	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110035963G>A	uc010rwc.2	+	5	2156	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	ZC3H12C_uc009yxw.3_Missense_Mutation_p.R718Q|ZC3H12C_uc010rwd.2_Missense_Mutation_p.R719Q|ZC3H12C_uc001pkr.4_Missense_Mutation_p.R687Q	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN	Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.	718							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		GTGGGCGCCCGGTCCAGCTGT	0.592000														480			106		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362919	40362919	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40362919C>T	uc002omp.4	-	31	15159	c.15151G>A	c.(15151-15153)Ggg>Agg	p.G5051R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5051	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGGAGCTGCCCGCAGGCCTCG	0.672000														238			68		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141799614	141799614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141799614C>T	uc003yvu.3	-	13	1446	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	PTK2_uc011ljq.2_Missense_Mutation_p.S40N|PTK2_uc003yvp.3_Missense_Mutation_p.S40N|PTK2_uc003yvq.3_5'UTR|PTK2_uc003yvr.3_Missense_Mutation_p.S278N|PTK2_uc003yvs.3_Missense_Mutation_p.S379N|PTK2_uc011ljr.2_Missense_Mutation_p.S379N|PTK2_uc003yvt.3_Missense_Mutation_p.S401N|PTK2_uc003yvv.3_Missense_Mutation_p.S266N	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	379					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTGCTTTTCGCTGTTGGCCAA	0.552000														285			50		0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24523786	24523786	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:24523786A>G	uc002wtw.1	+	1	686	c.53A>G	c.(52-54)gAt>gGt	p.D18G		NM_024893	NP_079169	Q9H7V2	SYNG1_HUMAN	Homo sapiens synapse differentiation inducing 1 (SYNDIG1), mRNA.	18					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		p.D18N(1)		breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						AAAATCAGTGATGCTGGCAAG	0.527000														177			38		0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145416857	145416857	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145416857C>T	uc001eni.2	+	3	1527	c.1202C>T	c.(1201-1203)gCt>gTt	p.A401V	HFE2_uc001enk.2_Missense_Mutation_p.A288V|HFE2_uc001enj.2_Missense_Mutation_p.A175V|HFE2_uc001enl.2_Missense_Mutation_p.A175V|HFE2_uc021oux.1_Missense_Mutation_p.A175V	NM_213653	NP_660320	Q6ZVN8	RGMC_HUMAN	Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA.	401					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCTCAGATGCTGGGGTTCCT	0.542000														140			26		0	0	1	0	0
GZF1	64412	broad.mit.edu	37	20	23350738	23350738	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23350738A>C	uc010gdb.3	+	6	1970	c.1796A>C	c.(1795-1797)aAg>aCg	p.K599T	GZF1_uc002wsy.3_Missense_Mutation_p.K599T|GZF1_uc010zsq.2_Missense_Mutation_p.K123T|GZF1_uc010zsr.2_Missense_Mutation_p.K108T|GZF1_uc002wsz.3_Missense_Mutation_p.K599T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	599					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ATACACGATAAGAATACTCCA	0.403000														72			18		0	0	1	0	0
CDSN	1041	broad.mit.edu	37	6	31084129	31084129	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31084129G>A	uc003nsm.2	-	1	1319	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	421	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						GGGAGCAGGGGCTCTGGGAAG	0.597000														48			9		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80887372	80887372	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80887372C>T	uc002kfy.1	+	31	3117	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	TBCD_uc002kfz.3_Missense_Mutation_p.S996L|TBCD_uc002kgb.1_Missense_Mutation_p.S321L|TBCD_uc002kgd.3_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	996					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTGACGGAGTCGACGGTGAGG	0.662000														92			8		0	0	1	0	0
WHSC2	7469	broad.mit.edu	37	4	1987506	1987506	+	Silent	SNP	C	T	T	rs151160222		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1987506C>T	uc003gem.3	-	6	1197	c.954G>A	c.(952-954)acG>acA	p.T318T	WHSC2_uc003gek.3_Silent_p.T44T|WHSC2_uc003gel.3_Silent_p.T232T|WHSC2_uc003gen.3_Silent_p.T172T	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	307					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			GCCCTACCTGCGTGGACACCA	0.607000														74			12		0	0	1	0	0
TCRBV2S1	0	broad.mit.edu	37	7	142334683	142334683	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142334683C>T	uc003vzp.2	+	1	160	c.105C>T	c.(103-105)atC>atT	p.I35I	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzq.2_Silent_p.I36I|TCRBV2S1_uc022anq.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		CTGTGAAGATCGAGTGCCGTT	0.527000											OREG0018395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		144			39		0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62264895	62264895	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62264895C>T	uc002agz.3	-	26	2777	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	VPS13C_uc002aha.3_Missense_Mutation_p.E853K|VPS13C_uc002ahb.2_Missense_Mutation_p.E896K|VPS13C_uc002ahc.2_Missense_Mutation_p.E853K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	896					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTTTTAAGTTCTGATCCTTTC	0.333000														82			14		0	0	1	0	0
IKBKE	9641	broad.mit.edu	37	1	206647703	206647703	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206647703C>A	uc001hdz.2	+	3	695	c.117C>A	c.(115-117)gtC>gtA	p.V39V	IKBKE_uc009xbu.2_Silent_p.V39V|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Silent_p.V39V	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	39	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CTGTGAAGGTCTTCAACACTA	0.582000														103			13		0.0167234	0.0168888	1	1	0
FRMD4B	23150	broad.mit.edu	37	3	69230103	69230103	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69230103G>T	uc003dnv.2	-	20	3088	c.2798C>A	c.(2797-2799)gCg>gAg	p.A933E	FRMD4B_uc003dnw.2_Non-coding_Transcript|FRMD4B_uc003dnu.2_Missense_Mutation_p.A585E|FRMD4B_uc011bga.1_Missense_Mutation_p.A777E	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	933						cytoplasm|cytoskeleton	binding	p.A879V(2)|p.A933V(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TTGCAGCCCCGCAAACCCCAG	0.542000														121			29		9.78306e-22	1.20233e-21	1	1	0
ASTN1	460	broad.mit.edu	37	1	176915202	176915202	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176915202C>T	uc001glc.3	-	12	2321	c.2109G>A	c.(2107-2109)acG>acA	p.T703T	ASTN1_uc001glb.1_Silent_p.T703T|ASTN1_uc001gld.1_Silent_p.T703T|ASTN1_uc009wwx.1_Silent_p.T703T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	711	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GACAGGTCTCCGTGATGAGTT	0.498000														163			31		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130454718	130454718	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130454718C>A	uc003enj.3	-	2	1443	c.862G>T	c.(862-864)Gaa>Taa	p.E288*		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	288	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GTTACCAATTCTCTGATACTG	0.318000														66			13		4.36969e-10	4.89342e-10	1	1	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	A	rs150520281	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21817457G>A	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														25			3		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31493337	31493337	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31493337A>G	uc003jhg.2	-	11	2178	c.1819T>C	c.(1819-1821)Ttt>Ctt	p.F607L	DROSHA_uc003jhh.2_Missense_Mutation_p.F570L|DROSHA_uc003jhi.2_Missense_Mutation_p.F570L|DROSHA_uc010iui.1_Missense_Mutation_p.F530L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	607	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GCATGTGCAAACATAGAAAAT	0.393000														19			4		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695695	40695695	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695695C>A	uc002hzv.3	+	5	2011	c.1671C>A	c.(1669-1671)cgC>cgA	p.R557R		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	557						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCGCCTTCCGCTACGACCTGC	0.607000														96			6		3.59834e-05	3.75534e-05	1	1	0
DENND1A	57706	broad.mit.edu	37	9	126202642	126202642	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:126202642T>C	uc011lzm.1	-	16	1603	c.1389A>G	c.(1387-1389)ggA>ggG	p.G463G	DENND1A_uc011lzl.1_Silent_p.G270G|DENND1A_uc004bny.1_Silent_p.G234G|DENND1A_uc004bnz.1_Silent_p.G495G|DENND1A_uc004boa.1_Silent_p.G495G|DENND1A_uc004bob.1_Silent_p.G465G|DENND1A_uc004boc.3_Silent_p.G463G|DENND1A_uc010mwh.1_5'UTR	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	495						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TACACACCTGTCCAAAGTGGA	0.517000														90			15		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128104578	128104578	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128104578G>T	uc004bpp.3	+	18	3287	c.3127_splice	c.e18+1	p.D1043_splice	GAPVD1_uc011lzs.1_Splice_Site|GAPVD1_uc004bpq.3_Splice_Site_p.D1016_splice|GAPVD1_uc010mwx.3_Splice_Site_p.D1016_splice|GAPVD1_uc004bpr.3_Splice_Site_p.D995_splice|GAPVD1_uc004bps.3_Intron|GAPVD1_uc010mwy.1_Splice_Site	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1016					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AACACTCACAGGTTTGTAGAC	0.403000														121			9		0.00448238	0.00455828	1	1	0
TNFRSF12A	51330	broad.mit.edu	37	16	3071282	3071282	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3071282C>T	uc002csv.4	+	1	247	c.161C>T	c.(160-162)tCt>tTt	p.S54F	TNFRSF12A_uc002csw.4_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_016639	NP_057723	Q9NP84	TNR12_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 12A (TNFRSF12A), mRNA.	54					angiogenesis|apoptosis	integral to membrane	receptor activity			lung(1)|skin(1)	2						GACTGCGCGTCTTGCAGGGCG	0.736000														57			13		0	0	1	0	0
ZDHHC1	29800	broad.mit.edu	37	16	67432784	67432784	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432784T>C	uc010vjm.2	-	5	898	c.594A>G	c.(592-594)acA>acG	p.T198T		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	198						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		CGAAGACATATGTGGCCACCA	0.587000														41			8		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32542990	32542990	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32542990C>T	uc003zrb.3	-	2	1725	c.1533G>A	c.(1531-1533)gaG>gaA	p.E511E	TOPORS_uc003zrc.3_Silent_p.E446E	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	511	Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TCTTCACTGTCTCCATTTTCT	0.433000														106			17		0	0	1	0	0
C2orf44	80304	broad.mit.edu	37	2	24261218	24261218	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24261218C>A	uc002rep.2	-	1	1278	c.1147G>T	c.(1147-1149)Gag>Tag	p.E383*	C2orf44_uc010eya.2_Nonsense_Mutation_p.E383*	NM_025203	NP_079479	Q9H6R7	CB044_HUMAN	Homo sapiens chromosome 2 open reading frame 44 (C2orf44), transcript variant 1, mRNA.	383							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGTGTTCTCTAATCGAATT	0.373000			T	ALK	NSCLC									143			29		1.12875e-08	1.24115e-08	1	1	0
FGF12	2257	broad.mit.edu	37	3	191888348	191888348	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:191888348C>T	uc003fsx.3	-	3	1338	c.512G>A	c.(511-513)cGa>cAa	p.R171Q	FGF12_uc003fsy.3_Missense_Mutation_p.R109Q	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	171					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding	p.R171R(1)		endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AAACCAAGCTCGGCCTGATTC	0.413000														248			66		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45553598	45553598	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45553598C>T	uc001cnd.2	-	1	1135	c.907G>A	c.(907-909)Gca>Aca	p.A303T		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	303							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCATCTGCCAGTTTCTGT	0.378000														178			22		0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71351008	71351008	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71351008G>A	uc010nlh.2	-	0	383	c.383C>T	c.(382-384)cCg>cTg	p.P128L	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.P128L|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	128	Poly-Pro.									cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CAGCGCCGGCGGGGGCGGGAT	0.672000														38			15		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136531866	136531866	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136531866G>A	uc004cep.4	-	19	2756	c.2622C>T	c.(2620-2622)agC>agT	p.S874S	SARDH_uc004ceo.3_Silent_p.S874S|SARDH_uc011mdo.2_Silent_p.S706S|SARDH_uc011mdn.2_Silent_p.S874S|SARDH_uc004cen.3_Silent_p.S324S	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	874					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCGGCCCACCGCTGGGGTCAT	0.632000														19			5		0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122720769	122720769	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122720769C>T	uc003ktk.3	-	11	1755	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CEP120_uc010jcz.2_Missense_Mutation_p.G521R|CEP120_uc011cwq.2_Missense_Mutation_p.G356R	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	547						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						CTCGCAATTCCCAGAAGTAAA	0.373000														76			14		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40357450	40357450	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40357450G>A	uc002omp.4	-	33	15871	c.15863C>T	c.(15862-15864)aCg>aTg	p.T5288M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5288	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTCCGTTTTGCCATG	0.547000														88			28		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863096G>A	uc003wlu.1	+	0	551	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627000														139			9		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697788	99697788	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:99697788C>T	uc001yga.3	-	2	801	c.534G>A	c.(532-534)ccG>ccA	p.P178P	BCL11B_uc001ygb.3_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	178						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGAGGCAGGGCGGGAGAGCGC	0.697000			T	TLX3	T-ALL									46			9		0	0	1	0	0
STX10	8677	broad.mit.edu	37	19	13256126	13256126	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13256126G>A	uc021upq.1	-	4	447	c.447C>T	c.(445-447)atC>atT	p.I149I	STX10_uc002mwn.3_Silent_p.I48I|STX10_uc002mwo.3_Silent_p.I48I|STX10_uc010xna.2_5'UTR	NM_003765	NP_003756	O60499	STX10_HUMAN	Homo sapiens syntaxin 10 (STX10), mRNA.	149					Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane	SNAP receptor activity			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			GCTGCTCCTCGATGTAGCGAG	0.617000														79			18		0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4927465	4927465	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4927465G>A	uc002cyb.3	+	16	3684	c.3345G>A	c.(3343-3345)caG>caA	p.Q1115Q	UBN1_uc010uxw.2_Intron|UBN1_uc002cyc.3_Silent_p.Q1115Q	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1115					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						ATATCCCGCAGAGTCTGCCAG	0.642000														429			98		0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139357393	139357393	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139357393C>T	uc004chx.3	-	11	5148	c.4839G>A	c.(4837-4839)tcG>tcA	p.S1613S	SEC16A_uc004chv.4_Silent_p.S1003S|SEC16A_uc004chw.3_Silent_p.S1613S|SEC16A_uc010nbn.3_Silent_p.S1613S	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1435					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTCTCTCGAGCGAGCTGGCGG	0.607000														161			38		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542676	28542676	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542676G>T	uc003nlo.3	-	2	2424	c.1806C>A	c.(1804-1806)tcC>tcA	p.S602S		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	602					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						AAACTACACAGGATAAAAATC	0.403000														37			7		2.7689e-08	3.02839e-08	1	1	0
UBQLN3	50613	broad.mit.edu	37	11	5530259	5530259	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530259A>T	uc021qcw.1	-	0	530	c.530T>A	c.(529-531)aTc>aAc	p.I177N	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.I177N	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	177										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGACCCGGGATGAAGGGGTC	0.562000														151			25		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47384365	47384365	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47384365T>G	uc003tnw.3	-	19	2996	c.2638A>C	c.(2638-2640)Aaa>Caa	p.K880Q	TNS3_uc022acn.1_Missense_Mutation_p.K437Q	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	880						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGTCCTCCTTTGTGCTGACTG	0.602000														144			34		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47330914	47330914	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47330914C>T	uc010gqb.3	+	8	833	c.570C>T	c.(568-570)tgC>tgT	p.C190C	PCBP3_uc002zhp.2_Silent_p.C190C|PCBP3_uc010gqc.2_Silent_p.C190C|PCBP3_uc002zhq.2_Silent_p.C190C|PCBP3_uc002zhs.2_Silent_p.C190C|PCBP3_uc002zht.2_Silent_p.C158C	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	190					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCATCCAGTGCGTCAAGCAGA	0.642000														126			32		0	0	1	0	0
YOD1	55432	broad.mit.edu	37	1	207222956	207222956	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207222956G>A	uc001hfe.1	-	1	503	c.456C>T	c.(454-456)acC>acT	p.T152T	PFKFB2_uc010psc.2_5'UTR|YOD1_uc001hff.1_Silent_p.T108T	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	152	OTU.				ER-associated protein catabolic process|cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					CTGGGACCACGGTTCTGGTAA	0.493000														75			20		0	0	1	0	0
ACOT8	10005	broad.mit.edu	37	20	44472193	44472193	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44472193G>T	uc002xqa.2	-	4	908	c.814C>A	c.(814-816)Ctc>Atc	p.L272I	ACOT8_uc010zxe.2_3'UTR|ACOT8_uc002xqc.2_3'UTR|ACOT8_uc010zxf.2_Missense_Mutation_p.L152I	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	272					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CATTCATAGAGCATCCAGTGG	0.602000														36			7		5.18039e-06	5.47662e-06	1	1	0
ATP11B	23200	broad.mit.edu	37	3	182615133	182615133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182615133G>A	uc003flb.3	+	26	3348	c.3091G>A	c.(3091-3093)Gtt>Att	p.V1031I	ATP11B_uc003flc.3_Missense_Mutation_p.V615I|ATP11B_uc010hxf.1_Missense_Mutation_p.V193I|ATP11B_uc010hxg.3_Non-coding_Transcript|ATP11B_uc010hxh.1_5'Flank	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	1031					ATP biosynthetic process|aminophospholipid transport	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CAACCATCTCGTTACCTGGGG	0.303000														142			25		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101304292	101304292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101304292C>T	uc004ays.3	-	2	953	c.493G>A	c.(493-495)Gat>Aat	p.D165N		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	165					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTTTTCTTATCGGCTAGAACA	0.468000														67			24		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55249101	55249101	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55249101A>G	uc003tqk.3	+	19	2645	c.2399A>G	c.(2398-2400)gAc>gGc	p.D800G	EGFR_uc022adm.1_Missense_Mutation_p.D800G|EGFR_uc010kzg.2_Missense_Mutation_p.D755G|EGFR_uc022adn.1_Missense_Mutation_p.D755G|EGFR_uc011kco.2_Missense_Mutation_p.D747G|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D35G	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	800	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L799R(2)|p.D800N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCTCCTGGACTATGTCCGG	0.602000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				144			38		0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113688414	113688414	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113688414G>A	uc001poh.3	-	12	1462	c.1429C>T	c.(1429-1431)Cac>Tac	p.H477Y	USP28_uc001pog.3_Missense_Mutation_p.H185Y|USP28_uc010rwy.2_Missense_Mutation_p.H352Y|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.H477Y	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	477					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCGAGCAGTGCACTGAAGAA	0.358000														145			44		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32555003	32555003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32555003G>A	uc003amd.3	-	0	241	c.200C>T	c.(199-201)cCg>cTg	p.P67L		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	67								p.P67T(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGGCGTCTTCGGGAGGCTGAG	0.557000														423			83		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669213	80669213	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669213C>T	uc021rxa.1	-	2	802	c.749G>A	c.(748-750)cGc>cAc	p.R250H	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.R214H|DIO2_uc010asy.3_Missense_Mutation_p.R214H	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	214					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ATTGTCCATGCGGTCAGCCAC	0.547000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		157			25		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802746	185802746	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:185802746T>G	uc002uph.3	+	3	3217	c.2623T>G	c.(2623-2625)Tta>Gta	p.L875V		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	875						intracellular	zinc ion binding	p.Q874E(1)|p.L875*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACAAACCAATTAAGAAACAA	0.363000														112			11		0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561540	11561540	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561540G>A	uc001ash.4	+	1	629	c.491G>A	c.(490-492)cGc>cAc	p.R164H	PTCHD2_uc001asi.1_Missense_Mutation_p.R164H	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	164					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTCGGCAACCGCTCGCGGCAA	0.687000														53			19		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17113900	17113900	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17113900G>A	uc001ioo.3	-	17	2424	c.2372C>T	c.(2371-2373)aCt>aTt	p.T791I		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	791	CUB 3.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GACACTATTAGTAATGGATTT	0.333000														66			6		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16075231	16075231	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16075231C>A	uc002gpo.3	-	3	590	c.321G>T	c.(319-321)aaG>aaT	p.K107N	NCOR1_uc002gpn.3_Missense_Mutation_p.K107N|NCOR1_uc002gpp.1_Intron|NCOR1_uc002gpr.3_Intron|NCOR1_uc002gps.2_Missense_Mutation_p.K107N|NCOR1_uc010cpb.2_Missense_Mutation_p.K107N|NCOR1_uc010coz.2_5'UTR|NCOR1_uc010cpa.2_Missense_Mutation_p.K107N|NCOR1_uc002gpu.3_Missense_Mutation_p.K107N	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	107	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGGTCGCTTCGATTCCA	0.483000														57			12		0.00185496	0.00189487	1	1	0
ADARB2	105	broad.mit.edu	37	10	1405926	1405926	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1405926G>A	uc009xhq.3	-	2	700	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692000														76			29		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652508	152652508	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652508T>C	uc021zhb.1	-	75	13535	c.13312A>G	c.(13312-13314)Agt>Ggt	p.S4438G	SYNE1_uc003qot.4_Missense_Mutation_p.S4367G|SYNE1_uc003qou.4_Missense_Mutation_p.S4438G|SYNE1_uc010kiz.3_Missense_Mutation_p.S193G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4438					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTAAGTCACTGAGACAATTC	0.493000										HNSCC(10;0.0054)				104			29		0	0	1	0	0
LPAR2	9170	broad.mit.edu	37	19	19737613	19737613	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19737613G>A	uc002nnb.4	-	1	620	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	LPAR2_uc002nna.4_Silent_p.L161L|LPAR2_uc002nnc.4_Silent_p.L161L	NM_004720	NP_004711	Q9HBW0	LPAR2_HUMAN	Homo sapiens lysophosphatidic acid receptor 2 (LPAR2), mRNA.	161					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						AGCAGCCCCAGGCCCAGGGCA	0.706000														34			14		0	0	1	0	0
TLR6	10333	broad.mit.edu	37	4	38829804	38829804	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38829804C>A	uc010ifg.2	-	1	1412	c.1291G>T	c.(1291-1293)Gtg>Ttg	p.V431L	TLR6_uc003gtm.3_Missense_Mutation_p.V431L	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	431					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACACCACTATACTCTCA	0.373000														131			37		1.04352e-10	1.17799e-10	1	1	0
DHH	50846	broad.mit.edu	37	12	49485151	49485151	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49485151C>T	uc001rtf.3	-	1	632	c.325G>A	c.(325-327)Gct>Act	p.A109T		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	109					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						ATGGCCAAAGCGTTCACCCGC	0.587000														84			23		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123274089	123274089	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123274089C>T	uc003ieh.3	+	78	13925	c.13880C>T	c.(13879-13881)cCt>cTt	p.P4627L	KIAA1109_uc003iem.3_Missense_Mutation_p.P983L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4627					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						CGACACTGGCCTGGAGTATTG	0.433000														143			32		0	0	1	0	0
LFNG	3955	broad.mit.edu	37	7	2559814	2559814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2559814G>A	uc003smf.3	+	0	336	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Missense_Mutation_p.A107T	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	107					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		gcgccccctggccgagccgct	0.731000														58			13		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63269190	63269190	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63269190C>T	uc001xfx.3	-	8	1730	c.1679G>A	c.(1678-1680)cGc>cAc	p.R560H	KCNH5_uc001xfy.3_Missense_Mutation_p.R560H|KCNH5_uc001xfz.1_Missense_Mutation_p.R502H	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	560					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CGCCAAGGCGCGCAGACACCC	0.507000														124			26		0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122774741	122774741	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122774741G>A	uc001pym.3	+	2	750	c.453G>A	c.(451-453)acG>acA	p.T151T	C11orf63_uc001pyl.1_Silent_p.T151T	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	151										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CGGAGTCCACGGACAGCTCTT	0.532000														229			49		0	0	1	0	0
EPX	8288	broad.mit.edu	37	17	56276417	56276417	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56276417G>A	uc002ivq.3	+	7	1256	c.1137G>A	c.(1135-1137)acG>acA	p.T379T		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	379					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCGATCAACGGAAACCCCCA	0.567000														77			16		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647702	79647702	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79647702C>T	uc010jaj.1	-	0		c.84G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		CACGCTGGAGCGCAGCGCCTG	0.597000														84			15		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39950488	39950488	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39950488C>T	uc001cdg.3	+	3	679	c.606C>T	c.(604-606)agC>agT	p.S202S	MACF1_uc021ols.1_Intron|MACF1_uc021olt.1_Intron|MACF1_uc021olw.1_Intron|MACF1_uc001cde.2_Intron|MACF1_uc001cdh.3_Silent_p.S165S			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.|CH 2.				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCAAGGAGCGGGTAATGAG	0.473000														70			10		0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122740651	122740651	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122740651C>T	uc003iec.4	-	4	1183	c.878G>A	c.(877-879)aGa>aAa	p.R293K		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	293					Ras protein signal transduction|cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						ATGCTCCATTCTCAGAACTTG	0.378000														122			11		0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245532	46245532	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46245532G>A	uc003cph.1	-	1	344	c.273C>T	c.(271-273)atC>atT	p.I91I	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.I91I	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	91					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACTTGTAGTCGATCCAGAAGG	0.453000														129			28		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6485682	6485682	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6485682G>T	uc003sqa.3	-	1	319	c.149C>A	c.(148-150)gCt>gAt	p.A50D	DAGLB_uc011jwu.2_Missense_Mutation_p.A50D|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_5'UTR|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.A9D|DAGLB_uc011jww.1_Non-coding_Transcript	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	50					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCTCCACCAGCACAGTCCAG	0.473000														109			35		5.8336e-16	6.9331e-16	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119132980	119132980	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119132980G>A	uc003ecj.4	+	11	2736	c.2204G>A	c.(2203-2205)aGc>aAc	p.S735N		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	735	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						ACAGCAGCCAGCAGAGAGAAG	0.592000														189			44		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90041501	90041501	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90041501C>T	uc003kju.3	+	51	10959	c.10863C>T	c.(10861-10863)ttC>ttT	p.F3621F	GPR98_uc003kjt.3_Silent_p.F1327F|GPR98_uc003kjv.3_Silent_p.F1221F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3621	Calx-beta 23.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAATCCTTCAAAGTTCAAC	0.363000														44			12		0	0	1	0	0
N6AMT2	221143	broad.mit.edu	37	13	21303256	21303256	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21303256T>C	uc001uno.1	-	4	689	c.608A>G	c.(607-609)tAt>tGt	p.Y203C	AK055408_uc001unn.1_5'Flank|N6AMT2_uc009zzr.1_Missense_Mutation_p.Y203C|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	203							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAATTCACATAACAGCGAAA	0.463000														241			50		0	0	1	0	0
C3orf23	285343	broad.mit.edu	37	3	44409153	44409153	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44409153C>T	uc003cnd.4	+	4	952	c.525C>T	c.(523-525)gaC>gaT	p.D175D	C3orf23_uc010him.3_Silent_p.D175D|C3orf23_uc003cne.4_Silent_p.D31D	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	175						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		GATTCAAGGACCCTGATGAAG	0.388000														44			8		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510303	71510303	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510303C>A	uc011caw.1	+	8	3441	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1054					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAACATTCTGCATTTGCCATG	0.458000														106			25		7.92952e-12	9.07913e-12	1	1	0
THAP4	51078	broad.mit.edu	37	2	242572744	242572744	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242572744G>A	uc002wbt.3	-	1	1121	c.828C>T	c.(826-828)ccC>ccT	p.P276P		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	276							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCCCTTGTCGGGTCCCAGGC	0.637000														260			90		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342814	24342814	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24342814G>A	uc003xeb.3	+	9	1013	c.900G>A	c.(898-900)gtG>gtA	p.V300V	ADAM7_uc003xec.3_Silent_p.V72V	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	300	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V300V(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		ACTCACATGTGCAAGGAATTT	0.353000														130			23		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113317044	113317044	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113317044G>T	uc003ynu.3	-	51	8331	c.8172C>A	c.(8170-8172)agC>agA	p.S2724R	CSMD3_uc003yns.3_Missense_Mutation_p.S1926R|CSMD3_uc003ynt.3_Missense_Mutation_p.S2684R|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2724	Sushi 16.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAGGGTCACAGCTGAAAACTA	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				84			12		0.000978159	0.0010017	1	1	0
NCOA3	8202	broad.mit.edu	37	20	46262300	46262300	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46262300A>T	uc002xtk.3	+	8	1145	c.884A>T	c.(883-885)gAt>gTt	p.D295V	NCOA3_uc002xtl.3_Missense_Mutation_p.D295V|NCOA3_uc002xtn.3_Missense_Mutation_p.D295V|NCOA3_uc010ght.2_Missense_Mutation_p.D295V|NCOA3_uc002xtm.3_Missense_Mutation_p.D295V|NCOA3_uc010zyc.2_Missense_Mutation_p.D97V	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	295					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGCTTTGAAGATATAATCCGA	0.368000														98			24		0	0	1	0	0
MYO19	80179	broad.mit.edu	37	17	34859841	34859841	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34859841G>A	uc010wcy.2	-	20	2917	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.A442V	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	642	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGGCCACAGGCCTCCAGCTG	0.632000														14			4		0	0	1	0	0
CDRT15P1	94158	broad.mit.edu	37	17	13927944	13927944	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:13927944G>A	uc002god.1	+	0		c.130G>A								Homo sapiens CMT1A duplicated region transcript 15 pseudogene 1 (CDRT15P1), non-coding RNA.																		GACGCCTGTCGCCCGTTGTAA	0.602000														72			9		0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085074	64085074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:64085074G>A	uc003dmf.3	-	7	2774	c.2188C>T	c.(2188-2190)Cgg>Tgg	p.R730W		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	730	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGGAAGCTCCGCTGGCGCATA	0.617000														158			38		0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9404500	9404500	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9404500C>T	uc021wam.1	+	23	2404	c.2389C>T	c.(2389-2391)Cga>Tga	p.R797*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.R797*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.R809*|PLCB4_uc021wal.1_Nonsense_Mutation_p.R797*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.R644*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	797					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGCCGGATATCGACACATTTC	0.448000														61			15		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446777	102446777	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102446777C>T	uc001yks.2	+	4	1015	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	284	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTGGAACGTGCGTTATACCGC	0.463000														91			9		0	0	1	0	0
SHMT1	6470	broad.mit.edu	37	17	18232655	18232655	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18232655C>A	uc002gta.3	-	10	1409	c.1219G>T	c.(1219-1221)Gca>Tca	p.A407S	SHMT1_uc002gsz.3_Missense_Mutation_p.A182S|SHMT1_uc002gtb.3_Missense_Mutation_p.A368S|SHMT1_uc010vxt.2_Missense_Mutation_p.A269S	NM_004169	NP_004160	P34896	GLYC_HUMAN	Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	407					L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GACGTCAGTGCTGGGGTCCCC	0.502000														80			23		1.66031e-10	1.87009e-10	1	1	0
FOXC2	2303	broad.mit.edu	37	16	86601231	86601231	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86601231G>A	uc002fjq.3	+	0	375	c.290G>A	c.(289-291)gGc>gAc	p.G97D		NM_005251	NP_005242	Q99958	FOXC2_HUMAN	Homo sapiens forkhead box C2 (MFH-1, mesenchyme forkhead 1) (FOXC2), mRNA.	97					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|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 factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ACCTTGAACGGCATCTACCAG	0.597000									Late-onset Hereditary Lymphedema					340			20		0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17910775	17910775	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17910775C>T	uc021xmr.1	-	4	733	c.624G>A	c.(622-624)gaG>gaA	p.E208E	LCORL_uc021xmq.1_Silent_p.E124E|LCORL_uc003gpq.3_Silent_p.E208E|LCORL_uc011bxk.2_Silent_p.E121E	NM_001166139	NP_001159611	Q8N3X6	LCORL_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor-like (LCORL), transcript variant 1, mRNA.	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.E207E(1)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GGCCTTCCTGCTCTTCCTGAA	0.348000														105			22		0	0	1	0	0
FCGR2C	9103	broad.mit.edu	37	1	161565352	161565352	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161565352C>T	uc021pdi.1	+	5		c.869C>T			FCGR2C_uc021pdj.1_Non-coding_Transcript	NM_201563				Homo sapiens Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene) (FCGR2C), mRNA.											lung(2)	2	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCAATTCCACTGATCCTGTG	0.498000														207			53		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169381144	169381144	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:169381144C>T	uc011bpj.1	-	0	420	c.17G>A	c.(16-18)aGg>aAg	p.R6K	MECOM_uc011bpk.1_5'UTR|MECOM_uc010hwn.2_Missense_Mutation_p.R6K|MECOM_uc011bpl.1_Missense_Mutation_p.R6K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	6							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTTCCTTGCCCTGCCTTTGGA	0.532000														30			3		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266348	38266348	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38266348G>T	uc010abx.3	-	3	1257	c.1022C>A	c.(1021-1023)cCt>cAt	p.P341H	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.P341H|TRPC4_uc001uws.3_Missense_Mutation_p.P341H|TRPC4_uc010tey.2_Missense_Mutation_p.P341H|TRPC4_uc010abw.3_Missense_Mutation_p.P168H|TRPC4_uc010aby.3_Missense_Mutation_p.P341H	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	341					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGAGAAGACAGGAAAAAGAAG	0.478000														67			16		2.32078e-09	2.57599e-09	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86325797	86325797	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86325797C>T	uc002sqs.3	-	2	748	c.369G>A	c.(367-369)caG>caA	p.Q123Q		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	123					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAACCCTCAGCTGGCAGAGTA	0.532000														318			62		0	0	1	0	0
OGFRL1	79627	broad.mit.edu	37	6	72011229	72011229	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72011229G>T	uc003pfx.1	+	6	996	c.833G>T	c.(832-834)aGt>aTt	p.S278I		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	278						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ATTAAGCAGAGTGCTCTAGAG	0.383000														178			46		6.1207e-33	7.73069e-33	1	1	0
CDH10	1008	broad.mit.edu	37	5	24487856	24487856	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24487856G>T	uc003jgr.2	-	11	2789	c.2283C>A	c.(2281-2283)aaC>aaA	p.N761K	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	761					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGTAATCGTAGTTTTGGTCTC	0.438000										HNSCC(23;0.051)				202			49		2.55665e-31	3.2241e-31	1	1	0
GSG2	83903	broad.mit.edu	37	17	3628546	3628546	+	Silent	SNP	C	A	A	rs143089901	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3628546C>A	uc002fwp.3	+	0	1350	c.1317C>A	c.(1315-1317)tcC>tcA	p.S439S	ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	NM_031965	NP_114171	Q8TF76	HASP_HUMAN	Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.	439					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										GGCACTCCTCCTCTATGTATT	0.463000														186			14		7.93312e-07	8.47869e-07	1	1	0
INTS7	25896	broad.mit.edu	37	1	212148514	212148514	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212148514G>T	uc001hiw.2	-	12	2032	c.1809C>A	c.(1807-1809)tcC>tcA	p.S603S	INTS7_uc001hix.2_Silent_p.S479S|INTS7_uc009xdb.2_Silent_p.S603S|INTS7_uc001hiy.2_Silent_p.S603S|INTS7_uc010pta.2_Silent_p.S554S	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	603					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTACTGTTAAGGAAGCAATCC	0.373000														59			22		2.89027e-11	3.28353e-11	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33575697	33575697	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33575697G>A	uc002xbi.2	+	17	1839	c.1522G>A	c.(1522-1524)Gct>Act	p.A508T	MIR499A_uc021wcg.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	466	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCTGGACATCGCTGGGTTTGA	0.607000														138			29		0	0	1	0	0
SSTR1	6751	broad.mit.edu	37	14	38678962	38678962	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38678962G>A	uc021rsi.1	+	0	368	c.368G>A	c.(367-369)tGg>tAg	p.W123*	SSTR1_uc001wul.1_Nonsense_Mutation_p.W123*	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	123					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TTGCGCCACTGGCCCTTCGGT	0.587000														405			95		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236141260	236141260	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236141260G>A	uc001hxo.3	-	19	3753	c.3651C>T	c.(3649-3651)ggC>ggT	p.G1217G	NID1_uc009xgd.3_Silent_p.G1084G|NID1_uc009xgc.3_Silent_p.G298G	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1217	EGF-like 6.				cell-matrix adhesion	basement membrane	calcium ion binding	p.G1217G(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GGGTGCAGCCGCCATTGTTCA	0.512000														142			17		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518816	86518816	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518816C>T	uc004ana.3	-	3	761	c.617G>A	c.(616-618)aGa>aAa	p.R206K	KIF27_uc010mpw.3_Missense_Mutation_p.R206K|KIF27_uc010mpx.3_Missense_Mutation_p.R206K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	206	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TGCATGTGATCTGCTGGAGTG	0.438000														291			54		0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958828	129958828	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:129958828C>T	uc004bqo.2	+	12	1380	c.1113C>T	c.(1111-1113)gaC>gaT	p.D371D	RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqq.4_Intron	NM_014636	NP_055451	Q5JS13	RGPS1_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 1 (RALGPS1), transcript variant 1, mRNA.	371					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						ACCTACTGGACGACAGTGTCC	0.537000														180			27		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17991703	17991703	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17991703C>T	uc002nhr.4	+	7	1346	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	333					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.F333F(4)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGGACATCTTCGAAGATCTGC	0.597000														137			18		0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38502604C>T	uc003tgu.3	-	9	1075	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_uc003tgv.3_Missense_Mutation_p.A287T|AMPH_uc003tgt.3_Missense_Mutation_p.A40T	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	287					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.A287T(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CGTGCTGGTGCGGGAGACGCA	0.547000														174			42		0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223783810	223783810	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223783810G>A	uc002vni.3	+	6	1146	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	ACSL3_uc002vnj.3_Missense_Mutation_p.R232Q	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	232					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	p.R232Q(3)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	CCACGCCTGCGGCACATCATC	0.483000			T	ETV1	prostate									94			20		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908948	52908948	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52908948G>A	uc001san.3	-	8	1714	c.1551C>T	c.(1549-1551)ggC>ggT	p.G517G		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	517	Tail.		G -> D (in K-EBS).		epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		cgaggccgccgccaagacctc	0.632000														79			17		0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389036	4389036	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4389036G>T	uc010qye.2	-	0	581	c.490C>A	c.(490-492)Ctt>Att	p.L164I		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTTTAAAAGAAATATGATA	0.353000														97			13		1.5842e-08	1.73923e-08	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3253870	3253870	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3253870C>T	uc022aqr.1	-	16	2829	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	CSMD1_uc011kwj.2_Silent_p.E206E|CSMD1_uc003wqe.3_5'UTR	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	814	CUB 5.					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)		CATCTCTGACCTCCAAGGTGT	0.527000														24			3		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57910188	57910188	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57910188G>T	uc002qon.3	+	3	819	c.569G>T	c.(568-570)tGg>tTg	p.W190L	ZNF548_uc002qom.3_Missense_Mutation_p.W178L|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAAAGCGAGTGGAAGCCATAC	0.502000														121			10		2.52707e-12	2.91184e-12	1	1	0
C9orf96	169436	broad.mit.edu	37	9	136245957	136245957	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136245957G>T	uc004cdk.3	+	1	199	c.138G>T	c.(136-138)gaG>gaT	p.E46D	SURF4_uc011mdd.2_5'Flank|SURF4_uc004cdj.3_5'Flank|SURF4_uc011mdb.2_5'Flank|SURF4_uc011mdc.2_5'Flank|C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	46	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGTGGTGGAGGAAATGGAAA	0.498000														76			5		0.000602214	0.000618135	1	1	0
SBF2	81846	broad.mit.edu	37	11	10064430	10064430	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10064430G>A	uc001mib.2	-	2	378	c.240C>T	c.(238-240)tgC>tgT	p.C80C	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	80	UDENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTAGGCATGAGCAGTAATGTC	0.443000														102			21		0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	977109	977109	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:977109C>T	uc003zgw.1	+	0	146	c.108C>T	c.(106-108)ggC>ggT	p.G36G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	36					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)		GCAACCATGGCGTCCTGTCCT	0.682000														52			5		0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33355586	33355586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355586C>T	uc002ntv.4	-	2	301	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.V62M|SLC7A9_uc021usa.1_Missense_Mutation_p.V62M|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	62					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CAGGGCCCCACAGCTTCCGTG	0.617000														277			74		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691979	18691979	+	Missense_Mutation	SNP	C	T	T	rs144826489		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18691979C>T	uc001bau.2	+	5	1186	c.803C>T	c.(802-804)aCg>aTg	p.T268M	IGSF21_uc001bav.2_Missense_Mutation_p.T89M	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	268						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATACCAGAGACGGTCGTGAGC	0.657000														410			35		0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58423469	58423469	+	Missense_Mutation	SNP	C	T	T	rs142600905	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58423469C>T	uc002qqq.3	-	1	321	c.122G>A	c.(121-123)cGt>cAt	p.R41H	ZNF417_uc010yhm.2_5'UTR|ZNF417_uc002qqr.3_Missense_Mutation_p.R40H	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	41	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CATCACATCACGGTACAAGCA	0.498000														145			38		0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139836053	139836053	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139836053C>T	uc004cjx.3	-	6	1364	c.1180G>A	c.(1180-1182)Gcg>Acg	p.A394T	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Missense_Mutation_p.A142T|FBXW5_uc004cjz.3_Missense_Mutation_p.A124T	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	394							catalytic activity|protein binding	p.A394A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TGGTCCAGCGCGTCGAAGAAG	0.662000														39			9		0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10180547	10180547	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:10180547C>T	uc004csy.4	+	9	1860	c.1430C>T	c.(1429-1431)gCg>gTg	p.A477V	CLCN4_uc011mid.2_Missense_Mutation_p.A383V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	477						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGTGGGCGCGATAGCGGGC	0.577000														168			36		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42373813	42373813	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42373813C>T	uc001zox.3	-	11	917	c.822_splice	c.e11-1	p.C274_splice		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	274	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCCTCAGGGCTGTGGCAATG	0.617000														215			24		0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61180513	61180513	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61180513A>G	uc001xfc.3	-	2	2018	c.1958T>C	c.(1957-1959)gTg>gCg	p.V653A		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	653						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GACAGATGTCACAGTAGATTT	0.483000														66			8		0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78167123	78167123	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78167123C>A	uc001dht.3	-	22	2880	c.2533G>T	c.(2533-2535)Gct>Tct	p.A845S	USP33_uc001dhs.3_Intron|USP33_uc001dhu.3_Missense_Mutation_p.A814S	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	845	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TAAAAAGTAGCTGGAGAGTCC	0.363000														142			9		0.000442599	0.000455268	1	1	0
SNCAIP	9627	broad.mit.edu	37	5	121786784	121786784	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121786784C>A	uc003ksw.1	+	9	2448	c.2242C>A	c.(2242-2244)Cca>Aca	p.P748T	SNCAIP_uc011cwl.1_Missense_Mutation_p.P306T|SNCAIP_uc003ksy.1_Missense_Mutation_p.P382T|SNCAIP_uc003ksx.1_Missense_Mutation_p.P795T|SNCAIP_uc003ksz.1_Missense_Mutation_p.P382T|SNCAIP_uc010jcu.2_Missense_Mutation_p.P344T|SNCAIP_uc011cwm.1_Missense_Mutation_p.P382T|SNCAIP_uc003kta.1_Missense_Mutation_p.P380T|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.P442T|SNCAIP_uc010jcx.1_Missense_Mutation_p.P688T|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.P264T	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	748					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TGGCCACAGCCCATCTCCCAC	0.552000														94			22		2.27731e-05	2.38354e-05	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857650	9857650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857650C>T	uc010uym.2	-	13	4061	c.3751G>A	c.(3751-3753)Gac>Aac	p.D1251N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1251N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D1094N|GRIN2A_uc002czr.4_Missense_Mutation_p.D1251N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1251					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGCATCTGGTCTTCATCGATG	0.542000														163			43		0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80723075	80723075	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80723075A>C	uc003pjc.3	+	8	1087	c.976A>C	c.(976-978)Aat>Cat	p.N326H	TTK_uc003pjb.4_Missense_Mutation_p.N326H	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	326					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.N310H(1)|p.N326H(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAGAAATTTAAAGGT	0.358000														148			35		0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57741290	57741290	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57741290A>G	uc002ixr.1	+	8	1911	c.1468A>G	c.(1468-1470)Aat>Gat	p.N490D	CLTC_uc002ixp.3_Missense_Mutation_p.N486D|CLTC_uc002ixq.1_Missense_Mutation_p.N486D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	486	Flexible linker.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TAACGTCCCAAATAAAGTCAT	0.398000			T	"""ALK, TFE3"""	"""ALCL, renal """									99			34		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	702503	702503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:702503G>A	uc002cii.1	+	9	1144	c.1090G>A	c.(1090-1092)Gtc>Atc	p.V364I	WDR90_uc002cig.1_Missense_Mutation_p.V364I|WDR90_uc002cih.1_Missense_Mutation_p.V365I|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	364										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCTCAAGGGCGTCATCGGCTT	0.637000														141			39		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	86725	86725	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86725G>T	uc003fzv.1	+	5	1433	c.1277G>T	c.(1276-1278)aGa>aTa	p.R426I	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.R212I|ZNF718_uc011but.1_Missense_Mutation_p.R212I	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TTACACAAGAGAATCCATTCT	0.393000														48			11		0.010729	0.0108564	1	1	0
SOBP	55084	broad.mit.edu	37	6	107955419	107955419	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107955419G>A	uc003prx.3	+	5	1875	c.1371G>A	c.(1369-1371)tcG>tcA	p.S457S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	457	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CCATGCTATCGCCCCACATCC	0.751000														62			18		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14841558	14841558	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14841558C>A	uc003zlm.3	-	10	2584	c.1768G>T	c.(1768-1770)Gat>Tat	p.D590Y	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	590					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		TTAAACAAATCCCTCTGAAGG	0.388000														125			14		1.05317e-09	1.17384e-09	1	1	0
MAGEL2	54551	broad.mit.edu	37	15	23889232	23889232	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23889232G>T	uc001ywj.4	-	0	3762	c.3658C>A	c.(3658-3660)Ctc>Atc	p.L1220I		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACTCTGCGAGCGCTTCAAGG	0.552000														87			23		3.85864e-22	4.75135e-22	1	1	0
ACACB	32	broad.mit.edu	37	12	109674992	109674992	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109674992G>A	uc001tob.3	+	33	4588	c.4469G>A	c.(4468-4470)cGt>cAt	p.R1490H	ACACB_uc001toc.3_Missense_Mutation_p.R1490H|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R156H	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1490					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGCATTTACCGTCACTTGGAA	0.552000														206			55		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80050687	80050687	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80050687G>A	uc002kdu.3	-	7	896	c.779_splice	c.e7-1	p.G260_splice		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	260	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGAAGGTCACGCCTGCGGAGG	0.667000														24			8		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10400486	10400486	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10400486G>A	uc003bvt.3	-	13	2464	c.2025C>T	c.(2023-2025)gcC>gcT	p.A675A	ATP2B2_uc003bvv.3_Silent_p.A630A|ATP2B2_uc003bvw.3_Silent_p.A630A|ATP2B2_uc010hdo.3_Silent_p.A380A	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	675					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGTCGCGGTAGGCCACGCAGA	0.632000														124			24		0	0	1	0	0
RCE1	9986	broad.mit.edu	37	11	66611062	66611062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66611062G>A	uc001ojk.1	+	0	180	c.136G>A	c.(136-138)Gcc>Acc	p.A46T	RCE1_uc001ojl.1_5'UTR	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	46					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTCAGCCTCGCCTGCTCCTA	0.746000														28			12		0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23028870	23028870	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23028870G>T	uc002wss.3	-	0	1432	c.1272C>A	c.(1270-1272)agC>agA	p.S424R	THBD_uc002wst.1_5'Flank|THBD_uc002wsu.1_Missense_Mutation_p.S365R	NM_000361	NP_000352	P07204	TRBM_HUMAN	Homo sapiens thrombomodulin (THBD), mRNA.	424	EGF-like 5.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGCACTCACAGCTAGCCTGGG	0.627000														167			30		8.58068e-18	1.03204e-17	1	1	0
PLEC	5339	broad.mit.edu	37	8	145024774	145024774	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145024774C>T	uc003zaf.1	-	0	271	c.101G>A	c.(100-102)cGc>cAc	p.R34H	PLEC_uc003zag.1_Intron|PLEC_uc003zah.2_Intron|PLEC_uc003zaj.2_Intron	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	34	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTGCAAGCTGCGGGGCCGCCG	0.692000														39			5		0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197169467	197169467	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197169467T>G	uc001gtx.1	-	0	206	c.137A>C	c.(136-138)gAa>gCa	p.E46A	ZBTB41_uc009wyz.1_Non-coding_Transcript|CRB1_uc010poz.2_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						GTGAAGAGCTTCAGGAGTTGG	0.383000														145			25		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691463	3691463	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3691463G>A	uc002qya.3	+	6	719	c.571G>A	c.(571-573)Gca>Aca	p.A191T	COLEC11_uc002qxz.3_Missense_Mutation_p.A188T|COLEC11_uc002qyb.3_Missense_Mutation_p.A167T|COLEC11_uc002qyc.3_Missense_Mutation_p.A167T|COLEC11_uc010ewo.3_Missense_Mutation_p.A143T|COLEC11_uc010ewp.3_Missense_Mutation_p.A165T|COLEC11_uc010ewq.3_Missense_Mutation_p.A141T|COLEC11_uc010ewr.3_Missense_Mutation_p.A141T|COLEC11_uc010ews.3_Missense_Mutation_p.A117T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	191	C-type lectin.					collagen	mannose binding	p.A205T(1)|p.A188T(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCTGATGGCCGCATACCTGGC	0.672000														140			38		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138529190	138529190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529190G>A	uc011kql.2	-	17	5373	c.5324C>T	c.(5323-5325)tCt>tTt	p.S1775F	KIAA1549_uc011kqi.2_Missense_Mutation_p.S559F|KIAA1549_uc011kqk.2_Missense_Mutation_p.S559F|KIAA1549_uc011kqj.2_Missense_Mutation_p.S1775F	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1775						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAGCTCTGTAGACTGCAGCAA	0.617000			O	BRAF	pilocytic astrocytoma									50			6		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28510844	28510844	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510844A>G	uc001zbj.3	-	13	1896	c.1790T>C	c.(1789-1791)gTa>gCa	p.V597A	HERC2_uc001zbl.1_Missense_Mutation_p.V292A	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	597					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCCCGGCTACCAGCATCGG	0.572000														142			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430453	179430453	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179430453C>A	uc021vsy.1	-	274	72927	c.72702G>T	c.(72700-72702)gaG>gaT	p.E24234D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17929D|TTN_uc021vta.1_Missense_Mutation_p.E17862D|TTN_uc021vtb.1_Missense_Mutation_p.E17737D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25161	Ig-like 121.						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)			GTTCAGGTTTCTCCCACATAA	0.493000														236			95		2.54546e-60	3.25206e-60	1	1	0
MMP14	4323	broad.mit.edu	37	14	23306078	23306078	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306078C>T	uc001whc.3	+	0	286	c.52C>T	c.(52-54)Ctc>Ttc	p.L18F		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	18						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCTGCTCACGCTCGGCACCGC	0.731000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		94			8		0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7863170	7863170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7863170G>A	uc001aop.3	+	7	1160	c.936G>A	c.(934-936)ctG>ctA	p.L312L	PER3_uc009vmg.1_Silent_p.L312L|PER3_uc009vmh.1_Silent_p.L312L|PER3_uc001aoo.3_Silent_p.L311L|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Silent_p.L311L	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	311	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TAAGCTACCTGCACCCTGAAG	0.443000														97			10		0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44855412	44855412	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44855412C>T	uc001ztx.3	-	39	7270	c.7239G>A	c.(7237-7239)aaG>aaA	p.K2413K	SPG11_uc010bdw.3_Silent_p.K543K|SPG11_uc010ueh.2_Silent_p.K2300K|SPG11_uc010uei.2_3'UTR	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2413					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CGTATGCCAACTTGTAATACA	0.363000														83			16		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2569231	2569231	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2569231C>A	uc002cqm.3	+	1	1093	c.978C>A	c.(976-978)tgC>tgA	p.C326*	ATP6V0C_uc021tav.1_Missense_Mutation_p.A31D|ATP6V0C_uc002cqn.3_Missense_Mutation_p.A31D|AMDHD2_uc002cqp.3_5'Flank|AMDHD2_uc002cqq.3_5'Flank|AMDHD2_uc010uwc.2_5'Flank|AMDHD2_uc010uwd.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 2, mRNA.	0					neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CTGGGCGCTGCCTATGGCACA	0.622000														73			15		1.49906e-05	1.573e-05	1	1	0
KIAA0430	9665	broad.mit.edu	37	16	15729733	15729733	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15729733C>A	uc002ddr.3	-	2	818	c.611G>T	c.(610-612)gGt>gTt	p.G204V	KIAA0430_uc002ddq.3_Missense_Mutation_p.G203V|KIAA0430_uc010uzv.2_Missense_Mutation_p.G204V|KIAA0430_uc010uzw.2_Missense_Mutation_p.G204V|KIAA0430_uc010uzx.2_Missense_Mutation_p.G203V	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	203						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GTGCACATTACCATGACATGA	0.522000														133			41		1.49673e-21	1.83874e-21	1	1	0
ENPP7	339221	broad.mit.edu	37	17	77711050	77711050	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77711050C>T	uc002jxa.3	+	3	1257	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	413					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCTGCCCATGCTGCACACAGG	0.637000														58			6		0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11660380	11660380	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11660380C>A	uc003wui.3	+	0	191	c.39C>A	c.(37-39)ttC>ttA	p.F13L	FDFT1_uc003wuh.3_Intron|FDFT1_uc010lsa.1_5'UTR|FDFT1_uc011kxe.2_5'UTR|FDFT1_uc011kxf.2_Missense_Mutation_p.F13L|FDFT1_uc011kxg.2_Missense_Mutation_p.L9I|FDFT1_uc010lsb.3_5'Flank|FDFT1_uc011kxh.2_5'Flank|FDFT1_uc011kxi.2_5'Flank	NM_004462	NP_004453	P37268	FDFT_HUMAN	Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), mRNA.	13					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCGAAGAGTTCTACAACCTGG	0.682000														40			16		6.31663e-08	6.86475e-08	1	1	0
ECT2	1894	broad.mit.edu	37	3	172504322	172504322	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172504322G>A	uc003fii.2	+	16	1910	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	ECT2_uc010hwv.1_Missense_Mutation_p.S622N|ECT2_uc003fih.2_Missense_Mutation_p.S590N|ECT2_uc003fij.1_Missense_Mutation_p.S591N|ECT2_uc003fik.1_Missense_Mutation_p.S591N|ECT2_uc003fil.1_Missense_Mutation_p.S622N	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	591	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCAGACAAAAGCACTTTAGAA	0.308000														35			5		0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130653219	130653219	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130653219C>T	uc004bsp.1	-	4	520	c.401G>A	c.(400-402)cGc>cAc	p.R134H	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R100H|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.R134H|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R100H|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R100H|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	134					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						ATCATTCATGCGGATTGTACA	0.612000														111			12		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566809	142566809	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142566809T>G	uc011kst.2	+	15	3153	c.2366T>G	c.(2365-2367)tTt>tGt	p.F789C	EPHB6_uc011ksu.2_Missense_Mutation_p.F789C|EPHB6_uc003wbs.3_Missense_Mutation_p.F497C|EPHB6_uc003wbt.3_Missense_Mutation_p.F263C|EPHB6_uc003wbu.3_Missense_Mutation_p.F497C|EPHB6_uc003wbv.3_Missense_Mutation_p.F173C	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	789	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTGTCCAGCTTTGCCTTCGTC	0.642000														115			18		0	0	1	0	0
FGFR1OP2	26127	broad.mit.edu	37	12	27116329	27116329	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27116329G>T	uc001rhm.3	+	5	918	c.565G>T	c.(565-567)Gcc>Tcc	p.A189S	FGFR1OP2_uc001rhn.3_Missense_Mutation_p.A151S	NM_015633	NP_056448	Q9NVK5	FGOP2_HUMAN	Homo sapiens FGFR1 oncogene partner 2 (FGFR1OP2), transcript variant 1, mRNA.	189						cytoplasm				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					AATGAGGAAAGCCATTGAAAT	0.373000														55			15		3.41278e-10	3.83229e-10	1	1	0
ETHE1	23474	broad.mit.edu	37	19	44015646	44015646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44015646C>T	uc010eiu.1	-	3	515	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	ETHE1_uc002owp.3_Missense_Mutation_p.A150T	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	150						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CCAGTGAAGGCCATGCTGTGG	0.572000														87			10		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54307992	54307992	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:54307992G>T	uc021smr.1	+	0	2892	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N	UNC13C_uc021sms.1_Missense_Mutation_p.K964N	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	964					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AGATCACAAAGCCAAAGAGAA	0.413000														24			6		0.0293803	0.0295844	1	1	0
ZNF142	7701	broad.mit.edu	37	2	219506771	219506771	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219506771C>T	uc002vin.3	-	7	4904	c.4468G>A	c.(4468-4470)Gct>Act	p.A1490T	ZNF142_uc002vil.3_Missense_Mutation_p.A1451T|ZNF142_uc010fvt.3_Missense_Mutation_p.A1327T|ZNF142_uc002vim.3_Missense_Mutation_p.A1327T	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAGGGATCAGCACAGGCATAG	0.532000														141			34		0	0	1	0	0
SLC26A7	115111	broad.mit.edu	37	8	92350382	92350382	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92350382T>G	uc003yez.3	+	6	1039	c.800T>G	c.(799-801)aTt>aGt	p.I267S	SLC26A7_uc003yex.3_Missense_Mutation_p.I267S|SLC26A7_uc003yey.3_Intron|SLC26A7_uc003yfa.3_Missense_Mutation_p.I267S	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	267						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ACACAGATTATTGCTGCATCA	0.303000														49			15		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379810	107379810	+	Missense_Mutation	SNP	G	T	T	rs76552310		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379810G>T	uc011lvr.2	-	0	676	c.676C>A	c.(676-678)Ctc>Atc	p.L226I		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	226					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						TGAATCTTGAGGATGCTGGAA	0.438000														92			18		3.52763e-06	3.73571e-06	1	1	0
ARHGAP20	57569	broad.mit.edu	37	11	110451031	110451031	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110451031C>A	uc001pkz.1	-	15	2924	c.2639G>T	c.(2638-2640)gGa>gTa	p.G880V	ARHGAP20_uc001pky.1_Missense_Mutation_p.G857V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G844V|ARHGAP20_uc001pla.1_Missense_Mutation_p.G844V|ARHGAP20_uc001plb.2_Missense_Mutation_p.G423V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	880					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ATCCTCCTCTCCATGCAAGAG	0.453000														232			58		1.48341e-19	1.80311e-19	1	1	0
NLRP8	126205	broad.mit.edu	37	19	56466053	56466053	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56466053G>T	uc002qmh.3	+	2	700	c.629G>T	c.(628-630)gGa>gTa	p.G210V	NLRP8_uc010etg.3_Missense_Mutation_p.G210V	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	210	NACHT.					cytoplasm	ATP binding	p.G210E(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCCATACAGGGAGCTCCTGGG	0.522000														139			24		9.57634e-11	1.08211e-10	1	1	0
IQGAP3	128239	broad.mit.edu	37	1	156499988	156499988	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156499988C>T	uc001fpf.3	-	33	4388	c.4313G>A	c.(4312-4314)cGg>cAg	p.R1438Q		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1438					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding	p.R1438W(1)|p.R1438R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAGGACGCGCCGCTGCTTCTC	0.642000														42			15		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47500787	47500787	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47500787G>A	uc002leb.2	-	9	1543	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	MYO5B_uc021ukb.1_Missense_Mutation_p.H418Y	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	419	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.E418G(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TTGTTGATGTGCTCCACAATC	0.582000														178			10		0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108499328	108499328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108499328G>A	uc003psg.3	+	4	1280	c.525G>A	c.(523-525)atG>atA	p.M175I		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	175					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGACCCCAATGTATCTCTATG	0.498000														144			27		0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	65026808	65026808	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65026808G>A	uc002jft.2	+	3	720	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 4 (CACNG4), mRNA.	224					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	p.A224A(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCCTTAAGGCGTCTTCCTCTT	0.542000														267			38		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959025	43959025	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959025C>A	uc002xnu.3	-	3	466	c.426G>T	c.(424-426)gaG>gaT	p.E142D	SDC4_uc010zws.2_Missense_Mutation_p.E70D	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	142						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CCTCCGTTCTCTCAAAGATGT	0.547000			T	ROS1	NSCLC									114			30		5.8336e-16	6.9331e-16	1	1	0
PRG4	10216	broad.mit.edu	37	1	186277192	186277192	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277192A>C	uc001gru.4	+	6	2392	c.2341A>C	c.(2341-2343)Act>Cct	p.T781P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T740P|PRG4_uc009wyl.3_Missense_Mutation_p.T688P|PRG4_uc009wym.3_Missense_Mutation_p.T647P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	781	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCCTAAGGGGACTGCTCCAAC	0.607000														499			32		0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57968967	57968967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57968967G>A	uc001sor.1	+	15	2025	c.1817G>A	c.(1816-1818)cGg>cAg	p.R606Q	KIF5A_uc010srr.1_Missense_Mutation_p.R517Q	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	606					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AAGCGGTGCCGGCAGCTGGAG	0.572000														43			15		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63246595	63246595	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:63246595C>T	uc001xfx.3	-	9	1921	c.1870G>A	c.(1870-1872)Gcc>Acc	p.A624T	KCNH5_uc001xfy.3_Intron|KCNH5_uc001xfz.1_Missense_Mutation_p.A566T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	624					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATGCATGGGCAAGGGTGGTT	0.438000														79			18		0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256823	7256823	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256823C>T	uc002gge.4	+	0	1616	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	188					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				AGGAGAGCGGCGGGAGGTGGT	0.677000														104			27		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735415	126735415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735415G>A	uc003ejg.3	+	14	3070	c.3070G>A	c.(3070-3072)Gct>Act	p.A1024T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1024	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCCTGGCAGCGCTCCCATCAT	0.637000														195			44		0	0	1	0	0
SNTA1	6640	broad.mit.edu	37	20	32005695	32005695	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32005695C>A	uc002wzd.1	-	2	803	c.531G>T	c.(529-531)aaG>aaT	p.K177N	SNTA1_uc010zuf.1_Missense_Mutation_p.K177N	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	177	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						CAGTAGAGTTCTTGAAATACG	0.567000														147			34		2.47316e-13	2.8801e-13	1	1	0
VPRBP	9730	broad.mit.edu	37	3	51457286	51457286	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51457286C>T	uc003dbe.2	-	13	3164	c.2979G>A	c.(2977-2979)gcG>gcA	p.A993A	VPRBP_uc021wys.1_Silent_p.A992A|VPRBP_uc003dbf.1_Silent_p.A322A	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	1046					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		AGTTTATTGGCGCTTGCCGCC	0.507000														168			47		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44056764	44056764	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44056764G>A	uc001cjr.3	+	8	1411	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	PTPRF_uc001cjs.3_Silent_p.A357A|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	357	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCGCAGCGGGCACGGAGG	0.612000														231			53		0	0	1	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37546928	37546928	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37546928C>T	uc002xje.3	+	10	1512	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	PPP1R16B_uc010ggc.3_Silent_p.N399N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	441					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CGCTGGCCAACGGGGATGTCT	0.607000														354			72		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4934369	4934369	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4934369C>T	uc002cyd.1	-	21	4377	c.4287G>A	c.(4285-4287)gcG>gcA	p.A1429A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1429					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						CCTGCTCCAGCGCTGCCAGCC	0.687000														309			85		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1086426	1086426	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1086426C>T	uc001lsx.1	+	22	3162	c.3135C>T	c.(3133-3135)tcC>tcT	p.S1045S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1045	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACCGCCGCTCCTGGGCCGAGA	0.657000														44			9		0	0	1	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933482	94933482	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94933482C>T	uc001ydf.3	-	2	1081	c.920G>A	c.(919-921)aGa>aAa	p.R307K	SERPINA9_uc001yde.3_Missense_Mutation_p.R207K|SERPINA9_uc010avc.3_Missense_Mutation_p.R158K|SERPINA9_uc001ydg.3_Missense_Mutation_p.R271K|SERPINA9_uc001ydh.1_Missense_Mutation_p.R307K|SERPINA9_uc001ydi.1_Missense_Mutation_p.R271K	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	289					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TCTCAGTGTTCTGGCTGACAA	0.537000														118			19		0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120718447	120718447	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120718447C>A	uc002tmf.1	+	22	2969	c.2198C>A	c.(2197-2199)aCt>aAt	p.T733N	PTPN4_uc010flj.1_Missense_Mutation_p.T446N|PTPN4_uc010yyr.1_Missense_Mutation_p.T366N	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	733	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTACCACACACTTGTACAGAT	0.388000														132			14		0.0202918	0.0204907	1	1	0
AKAP4	8852	broad.mit.edu	37	X	49957076	49957076	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957076T>G	uc004dow.1	-	4	2412	c.2288A>C	c.(2287-2289)aAt>aCt	p.N763T	AKAP4_uc004dou.1_Missense_Mutation_p.N754T|AKAP4_uc004dov.1_Missense_Mutation_p.N380T|AKAP4_uc010njp.1_Missense_Mutation_p.N585T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	763					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					AGAGCACTGATTATTGACAAT	0.478000														30			6		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144893409	144893409	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144893409C>A	uc003yzp.1	-	9	1020	c.1013G>T	c.(1012-1014)aGc>aTc	p.S338I	SCRIB_uc003yzo.1_Missense_Mutation_p.S338I	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	338	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGAGAGGACGCTGAGTGCCAC	0.672000														51			12		3.07112e-06	3.25591e-06	1	1	0
PSG5	5673	broad.mit.edu	37	19	43689108	43689108	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43689108C>T	uc002ovu.3	-	1	387	c.256G>A	c.(256-258)Ggt>Agt	p.G86S	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.G86S	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	86	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TTTATTTGACCGTCTACTACA	0.438000														435			112		0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301736	191301736	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191301736G>A	uc002urz.2	+	2	1305	c.981G>A	c.(979-981)caG>caA	p.Q327Q		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	327					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						ATGGGTTGCAGCGCATGTGGG	0.532000														224			83		0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42577717	42577717	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42577717C>A	uc003gwr.2	-	13	1361	c.1129_splice	c.e13-1	p.D377_splice	ATP8A1_uc003gws.2_Splice_Site_p.D377_splice|ATP8A1_uc011byz.1_Splice_Site_p.D377_splice	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	377					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTCAAGATCCTTTAATAAAA	0.338000														142			22		5.35356e-11	6.06456e-11	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140731436	140731436	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731436G>A	uc003ljo.2	+	0	1609	c.1609G>A	c.(1609-1611)Gcg>Acg	p.A537T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.A537T	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	543	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A537T(2)|p.R537P(1)|p.R537Q(1)		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)			GGGCTCCCCCGCGCTCAGCGC	0.711000														250			22		0	0	1	0	0
RNF112	7732	broad.mit.edu	37	17	19318461	19318461	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19318461G>A	uc010vyw.2	+	10	1468	c.1237G>A	c.(1237-1239)Gcc>Acc	p.A413T	RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.A296T	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	413							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGAGGGGCGCGCCGTGGCCAG	0.662000														148			33		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15997079	15997079	+	Missense_Mutation	SNP	C	A	A	rs149428608		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15997079C>A	uc002nbs.1	-	7	1008	c.958G>T	c.(958-960)Gca>Tca	p.A320S	CYP4F2_uc010xot.1_Missense_Mutation_p.A171S|CYP4F2_uc010xou.1_Intron	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	320					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCAGCTTCTGCTCTTATGTCC	0.557000														444			83		2.61895e-37	3.32348e-37	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75981567	75981567	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75981567C>T	uc002baw.3	-	2	1932	c.1839G>A	c.(1837-1839)gcG>gcA	p.A613A		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	613	Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGAACTCGGTCGCCGGCTCCC	0.672000														97			17		0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36218206	36218206	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36218206G>A	uc010mlh.3	-	10	2128	c.1907C>T	c.(1906-1908)gCg>gTg	p.A636V	GNE_uc010mlg.3_Missense_Mutation_p.A562V|GNE_uc011lpl.2_Missense_Mutation_p.A526V|GNE_uc010mli.3_Missense_Mutation_p.A667V|GNE_uc010mlj.3_Missense_Mutation_p.A631V	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	636	N-acetylmannosamine kinase.				N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTGGGCCTTCGCATTGCCAAG	0.582000														297			76		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45998110	45998110	+	Missense_Mutation	SNP	C	T	T	rs143302045		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45998110C>T	uc002pcb.3	-	2	463	c.233G>A	c.(232-234)cGc>cAc	p.R78H	RTN2_uc002pcc.3_Missense_Mutation_p.R78H|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	78						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGAATCCCTGCGGCCCCCGGA	0.692000														106			29		0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17648286	17648286	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17648286G>T	uc021uqj.1	+	5	760	c.622G>T	c.(622-624)Gcc>Tcc	p.A208S	FAM129C_uc021uqi.1_Missense_Mutation_p.A208S|FAM129C_uc010xps.2_Missense_Mutation_p.A177S|FAM129C_uc010xpt.2_Non-coding_Transcript|FAM129C_uc002ngy.4_5'Flank|FAM129C_uc010xpu.2_5'Flank|FAM129C_uc002ngz.4_5'Flank|FAM129C_uc010eaw.3_5'Flank|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	208										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CTTCTCTGCAGCCACCAGGGA	0.632000														178			47		2.68985e-26	3.3603e-26	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114140876	114140876	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114140876G>A	uc004bfe.1	-	36	4472	c.4472C>T	c.(4471-4473)gCg>gTg	p.A1491V		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TTGCTCTGTCGCCCGGAGGCT	0.468000														102			25		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206632020	206632020	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206632020C>T	uc001hdy.3	+	18	2299	c.2298C>T	c.(2296-2298)gaC>gaT	p.D766D	SRGAP2_uc010pru.2_Silent_p.D765D	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	853	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TTCGGAGTGACAGCCATGGGC	0.597000														25			8		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072533	197072533	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072533C>A	uc001gtu.3	-	17	6105	c.5848G>T	c.(5848-5850)Gcg>Tcg	p.A1950S	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1950	IQ 12.				mitosis	cytoplasm|nucleus	calmodulin binding	p.A1950A(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTACCGCATGACGGAGT	0.393000														258			94		1.63847e-34	2.07294e-34	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	9857412	9857412	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9857412C>T	uc010uym.2	-	13	4299	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N	GRIN2A_uc002czo.4_Missense_Mutation_p.S1330N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1330					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAGGGGACACTAAACAGGCT	0.547000														182			38		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800611	45800611	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45800611G>A	uc011bai.2	-	10	1762	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	SLC6A20_uc003cow.3_Silent_p.L196L|SLC6A20_uc011baj.2_Silent_p.L509L	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	546					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTTTGGTCACGAGCTGGCCCT	0.622000														92			20		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138946167	138946167	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138946167C>T	uc011kqr.2	+	5	1075	c.1075C>T	c.(1075-1077)Cca>Tca	p.P359S	BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Missense_Mutation_p.P82S	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	359								p.P359S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATAAACCCCCATGTGCTGC	0.468000														114			26		0	0	1	0	0
CALD1	800	broad.mit.edu	37	7	134618572	134618572	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134618572G>T	uc003vrz.3	+	4	1518	c.1052G>T	c.(1051-1053)aGg>aTg	p.R351M	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Missense_Mutation_p.R215M	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	351	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						gaagagaaaagggcagcagag	0.532000														17			4		0.00024832	0.000256435	1	1	0
HOXA9	3205	broad.mit.edu	37	7	27204771	27204771	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27204771C>T	uc003syt.3	-	0	379	c.306G>A	c.(304-306)gcG>gcA	p.A102A	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	102							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						TGCCGTCCGGCGCCGCCGCCG	0.711000			T	"""NUP98, MSI2"""	AML*									55			13		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81111235	81111235	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81111235C>T	uc001szg.2	+	0	528	c.393C>T	c.(391-393)atC>atT	p.I131I		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	131	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCCGCTACATCGAGAGCCTGC	0.592000														266			63		0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128457910	128457910	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128457910C>T	uc003vnv.2	+	16	3878	c.3462C>T	c.(3460-3462)tcC>tcT	p.S1154S	CCDC136_uc003vnu.2_Silent_p.S434S|CCDC136_uc003vnx.2_Intron|CCDC136_uc010llq.2_Intron|CCDC136_uc003vny.2_Intron	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	1154						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						AGACGTCGTCCTAATGCAGGT	0.577000														235			46		0	0	1	0	0
DPYSL5	56896	broad.mit.edu	37	2	27154526	27154526	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27154526C>T	uc002rhu.4	+	5	846	c.688C>T	c.(688-690)Cat>Tat	p.H230Y	DPYSL5_uc002rhv.4_Missense_Mutation_p.H230Y|DPYSL5_uc021vev.1_Missense_Mutation_p.H230Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	230					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAAGCCACTCATCGTGTTAT	0.502000														100			37		0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766948	57766948	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766948G>T	uc002yan.3	+	0	874	c.874G>T	c.(874-876)Gcg>Tcg	p.A292S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	292						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGGGCTCCCAGCGGCCAGCAC	0.677000														211			37		2.40579e-17	2.88621e-17	1	1	0
CYSLTR2	57105	broad.mit.edu	37	13	49281382	49281382	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49281382C>T	uc010acw.1	+	1	719	c.429C>T	c.(427-429)ccC>ccT	p.P143P	CYSLTR2_uc010acx.1_Silent_p.P143P|CYSLTR2_uc010acy.1_Silent_p.P143P|CYSLTR2_uc010acz.1_Silent_p.P143P|CYSLTR2_uc010ada.1_Silent_p.P143P|CYSLTR2_uc010adb.1_Silent_p.P143P|CYSLTR2_uc010adc.1_Silent_p.P143P|CYSLTR2_uc010add.1_Silent_p.P143P|CYSLTR2_uc001vck.2_Silent_p.P143P|CYSLTR2_uc021rjl.1_Silent_p.P143P	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	143					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGGTTCACCCCTTTCGGCTTC	0.478000														233			9		0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99327681	99327681	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99327681G>A	uc001knv.1	+	1	274	c.81G>A	c.(79-81)gaG>gaA	p.E27E		NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	Homo sapiens ubiquitin domain containing 1 (UBTD1), mRNA.	27										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		GACGCAATGAGCCCCTGAAGA	0.617000														108			32		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058438	19058438	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19058438A>G	uc002dfp.2	+	11	1737	c.1607A>G	c.(1606-1608)cAg>cGg	p.Q536R	TMC7_uc002dfq.3_Missense_Mutation_p.Q536R|TMC7_uc010vap.2_Missense_Mutation_p.Q426R	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	536						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TGGGGGCAGCAGGAGTTTGCC	0.532000														331			84		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21869119	21869119	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21869119G>A	uc001war.2	-	20	4350	c.4285C>T	c.(4285-4287)Cgg>Tgg	p.R1429W	CHD8_uc001was.2_Missense_Mutation_p.R1150W|CHD8_uc001wav.1_Missense_Mutation_p.R592W	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1429					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GAGCGTGGCCGCTCATCATCC	0.498000														124			32		0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89759861	89759861	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89759861G>T	uc010cio.3	+	7	637	c.594G>T	c.(592-594)aaG>aaT	p.K198N	CDK10_uc010cip.2_3'UTR|CDK10_uc010vpl.1_3'UTR|CDK10_uc002fob.2_Intron|CDK10_uc002fod.3_Missense_Mutation_p.K127N|CDK10_uc002foe.3_Missense_Mutation_p.K127N|CDK10_uc002fof.3_Missense_Mutation_p.K127N|CDK10_uc002fog.4_Missense_Mutation_p.K127N|CDK10_uc002foh.4_Missense_Mutation_p.K127N|CDK10_uc002foi.3_5'Flank	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	198	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding	p.K198N(1)		ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGACCCCCAAGGTGGTCACTC	0.607000														96			45		1.5731e-28	1.97519e-28	1	1	0
GUCA1C	9626	broad.mit.edu	37	3	108634989	108634989	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108634989C>T	uc003dxj.2	-	2	495	c.427G>A	c.(427-429)Gat>Aat	p.D143N	GUCA1C_uc003dxk.2_Missense_Mutation_p.D143N	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	143	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity	p.D143Y(2)		endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TTGTTTATATCGATCTTATGG	0.418000														121			24		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134074865	134074865	+	Splice_Site	SNP	C	T	T	rs112640641		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134074865C>T	uc001qhd.1	-	9	1623	c.1017_splice	c.e9-1	p.S339_splice	NCAPD3_uc010scm.1_Splice_Site|NCAPD3_uc009zda.1_Splice_Site	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	339					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCCACAAGGGCGCTTTGTAAA	0.383000														97			19		0	0	1	0	0
ITGB2	3689	broad.mit.edu	37	21	46320235	46320235	+	Splice_Site	SNP	G	A	A	rs150327269		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46320235G>A	uc002zgd.2	-	6	941	c.897_splice	c.e6+1	p.F299_splice	ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GGGGACTTACGAATTCGTTGC	0.637000														134			12		0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64374726	64374726	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64374726G>A	uc021qkw.1	-	22	5543	c.5081C>T	c.(5080-5082)gCt>gTt	p.A1694V	NRXN2_uc021qkx.1_Missense_Mutation_p.A1624V|NRXN2_uc001oas.3_Missense_Mutation_p.A1624V|NRXN2_uc001oao.3_Missense_Mutation_p.A334V|NRXN2_uc001oap.3_Missense_Mutation_p.A648V|NRXN2_uc001oaq.3_Missense_Mutation_p.A1361V	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1694					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGGGGGCAGCCGGGGCCTT	0.612000														92			16		0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45459688	45459688	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45459688G>A	uc011dvx.2	+	5	906	c.696G>A	c.(694-696)caG>caA	p.Q232Q	RUNX2_uc011dvy.2_Silent_p.Q232Q|RUNX2_uc003oxt.3_Silent_p.Q218Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	232					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGCACAGACAGAAGCTTGATG	0.418000														302			24		0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71146496	71146496	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71146496G>A	uc001oqk.3	-	8	1603	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C	DHCR7_uc001oql.3_Silent_p.C451C	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	451					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGCTGGCGCAGCGGTGCT	0.662000									Smith-Lemli-Opitz syndrome					195			13		0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10101440	10101440	+	Missense_Mutation	SNP	C	T	T	rs141487705		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10101440C>T	uc002raa.3	+	3	715	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Silent_p.S18S|GRHL1_uc010yjb.2_Missense_Mutation_p.R31W	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	182					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		GCCCACTGAGCGGGTGGTGGT	0.542000														197			34		0	0	1	0	0
CPLX4	339302	broad.mit.edu	37	18	56964052	56964052	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:56964052C>T	uc002lhy.3	-	2	548	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_181654	NP_857637	Q7Z7G2	CPLX4_HUMAN	Homo sapiens complexin 4 (CPLX4), mRNA.	121					exocytosis|neurotransmitter transport	cell junction|synapse	syntaxin binding	p.D121Y(2)		autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				AGAATAGAATCTTTATCTTCT	0.418000														49			9		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149559262	149559262	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559262T>C	uc010lpn.3	+	6	3205	c.3013T>C	c.(3013-3015)Ttc>Ctc	p.F1005L		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	1005					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCACCTCCCGTTCTCCATGCT	0.602000														119			19		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820491	35820491	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820491A>C	uc010ngt.1	+	1	457	c.178A>C	c.(178-180)Agt>Cgt	p.S60R	MAGEB16_uc022bus.1_Missense_Mutation_p.S60R	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532000														29			12		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57998403	57998403	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57998403G>A	uc002emt.2	-	2	270	c.205C>T	c.(205-207)Cca>Tca	p.P69S	CNGB1_uc010cdh.2_Missense_Mutation_p.P69S|CNGB1_uc002emu.2_Missense_Mutation_p.P69S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	69					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TGAGGGCTTGGGTCTGCCACA	0.632000														103			31		0	0	1	0	0
NOXA1	10811	broad.mit.edu	37	9	140328737	140328737	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140328737C>T	uc004cmu.3	+	13	1512	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	NOXA1_uc004cmv.3_Silent_p.F452F|NOXA1_uc010nch.3_Silent_p.F403F	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	452			Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).		regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	NADPH oxidase complex|cytoplasm	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCAAGTGCTTCGTGGTCCCCG	0.652000														405			83		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95886992	95886992	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95886992A>G	uc001vmd.4	-	3	522	c.403T>C	c.(403-405)Tac>Cac	p.Y135H	ABCC4_uc010afk.3_Missense_Mutation_p.Y135H|ABCC4_uc001vme.2_Missense_Mutation_p.Y135H|ABCC4_uc010tih.1_Intron|ABCC4_uc001vmf.2_Missense_Mutation_p.Y92H|ABCC4_uc010afl.1_Missense_Mutation_p.Y92H|ABCC4_uc010afm.1_Missense_Mutation_p.Y148H	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	135	ABC transmembrane type-1 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.Y135H(3)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCATAGGCGTACGCTGTGTTC	0.393000														61			6		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140903715	140903715	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140903715C>T	uc003llb.4	-	26	3797	c.3656G>A	c.(3655-3657)cGt>cAt	p.R1219H	DIAPH1_uc011dbd.2_Missense_Mutation_p.R113H|DIAPH1_uc003llc.4_Missense_Mutation_p.R1210H|DIAPH1_uc021yep.1_Missense_Mutation_p.R1219H|DIAPH1_uc021yeq.1_Missense_Mutation_p.R1210H	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	1219	DAD.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding	p.R1219S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACCTTGACGGGGCCCTCT	0.532000														107			30		0	0	1	0	0
PPIEL	728448	broad.mit.edu	37	1	40011522	40011522	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40011522G>T	uc001cdk.3	-	5		c.2062C>A								Homo sapiens peptidylprolyl isomerase E-like pseudogene (PPIEL), non-coding RNA.																		TTTAGCAGTGGGCTCTCCCTA	0.527000														35			4		1	1	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245849462	245849462	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849462G>T	uc001ibf.1	+	11	3617	c.3177G>T	c.(3175-3177)aaG>aaT	p.K1059N	KIF26B_uc001ibg.1_Missense_Mutation_p.K677N|KIF26B_uc001ibh.1_Missense_Mutation_p.K301N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1059					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TGGAAGGCAAGCCCAGGCCCA	0.662000														92			15		1.67942e-08	1.84125e-08	1	1	0
P2RY2	5029	broad.mit.edu	37	11	72945948	72945948	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72945948C>T	uc021qna.1	+	0	744	c.744C>T	c.(742-744)gcC>gcT	p.A248A	P2RY2_uc001otk.3_Silent_p.A248A|P2RY2_uc001otj.3_Silent_p.A248A|P2RY2_uc001otl.3_Silent_p.A248A	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	248					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I247I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACCATCGCCGTGGTGCTGG	0.642000														208			58		0	0	1	0	0
SLC5A11	115584	broad.mit.edu	37	16	24922842	24922842	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24922842C>T	uc002dmu.3	+	15	2247	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	SLC5A11_uc002dms.3_Silent_p.G608G|SLC5A11_uc010vcd.2_Silent_p.G637G|SLC5A11_uc002dmt.3_Silent_p.G516G|SLC5A11_uc010vce.2_Silent_p.G602G|SLC5A11_uc010bxt.3_Silent_p.G608G|SLC5A11_uc002dmv.3_Silent_p.G295G	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	672					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTATCTGGGGCTATTTTGCTT	0.438000														201			50		0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780137	37780137	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37780137C>T	uc003tfm.1	+	0	142	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	48						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R48R(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AATGAACACCCGGTCAGTGAC	0.488000														125			6		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12874525	12874525	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12874525C>A	uc002muy.2	-	20	2066	c.1895G>T	c.(1894-1896)aGg>aTg	p.R632M	HOOK2_uc002muz.2_Missense_Mutation_p.R630M	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	632	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						GAGCTGTGTCCTCAGGGAATG	0.597000														163			34		1.57351e-24	1.95695e-24	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11860309	11860309	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11860309G>A	uc001atb.1	-	2	813	c.615C>T	c.(613-615)atC>atT	p.I205I	MTHFR_uc001atc.2_Silent_p.I182I	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	182					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	ACTCACTTCGGATGTGCTTCA	0.567000														257			59		0	0	1	0	0
CHGA	1113	broad.mit.edu	37	14	93390551	93390551	+	Silent	SNP	G	A	A	rs9658640		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93390551G>A	uc001ybc.4	+	1	314	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CHGA_uc001ybd.4_Silent_p.A18A	NM_001275	NP_001266	P10645	CMGA_HUMAN	Homo sapiens chromogranin A (parathyroid secretory protein 1) (CHGA), mRNA.	18					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		CAGTCACTGCGCTCCCTGTGA	0.582000														32			7		0	0	1	0	0
SOGA1	140710	broad.mit.edu	37	20	35457524	35457524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35457524C>T	uc021wcx.1	-	2	1344	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	SOGA1_uc002xgd.1_Missense_Mutation_p.R97H	NM_080627	NP_542194	O94964	K0889_HUMAN	Homo sapiens KIAA0889 (KIAA0889), transcript variant 1, mRNA.	97										endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						GAGCCGCTGACGAAGCTCTTC	0.612000														20			3		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10348418	10348418	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10348418C>T	uc002gmn.3	-	36	5452	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1781					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A1781T(4)|p.S1780R(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCAGGTGGGCGCTGGTGTCC	0.512000														317			31		0	0	1	0	0
CCL3	6348	broad.mit.edu	37	17	34416585	34416585	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34416585C>A	uc002hkv.3	-	1	234	c.132G>T	c.(130-132)caG>caT	p.Q44H		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	44					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTATGAAATTCTGTGGAATCT	0.552000														201			41		5.44703e-19	6.60141e-19	1	1	0
ZNF831	128611	broad.mit.edu	37	20	57766678	57766678	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57766678C>A	uc002yan.3	+	0	604	c.604C>A	c.(604-606)Ctg>Atg	p.L202M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	202						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAACTCCCGGCTGTCCTCAGA	0.672000														204			42		7.05121e-23	8.70768e-23	1	1	0
SPOCD1	90853	broad.mit.edu	37	1	32256723	32256723	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32256723C>A	uc001bts.1	-	15	3190	c.3132G>T	c.(3130-3132)gaG>gaT	p.E1044D	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.E1031D|SPOCD1_uc001btv.3_Missense_Mutation_p.E524D	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1044					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGTATCTCTTCTCCACCTTAC	0.602000														69			5		0.014758	0.0149061	1	1	0
EDEM2	55741	broad.mit.edu	37	20	33725733	33725733	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33725733G>A	uc002xbo.2	-	4	540	c.440C>T	c.(439-441)tCc>tTc	p.S147F	EDEM2_uc010zuv.1_Missense_Mutation_p.S106F|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.S110F|EDEM2_uc010zut.1_Missense_Mutation_p.S106F|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	147					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GAGAGGCCCGGAACAGGGCCA	0.577000														271			23		0	0	1	0	0
SOX2	6657	broad.mit.edu	37	3	181430930	181430930	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:181430930C>T	uc003fkx.3	+	0	1219	c.782C>T	c.(781-783)tCc>tTc	p.S261F	SOX2-OT_uc003fkv.3_Intron|SOX2-OT_uc003fkw.4_Intron	NM_003106	NP_003097	P48431	SOX2_HUMAN	Homo sapiens SRY (sex determining region Y)-box 2 (SOX2), mRNA.	261					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			TCCTCCCACTCCAGGGCGCCC	0.682000			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME							174			35		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156413716	156413716	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156413716G>A	uc003fav.3	+	3	1571	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	TIPARP_uc003faw.3_Missense_Mutation_p.M383I|TIPARP_uc021xgg.1_Missense_Mutation_p.M383I	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	383	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GATTTATGATGTGGAATAACC	0.383000														96			20		0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21181905	21181905	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21181905C>A	uc010vbf.2	+	3	570	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	TMEM159_uc002dih.4_Missense_Mutation_p.L82M|TMEM159_uc002dif.4_Missense_Mutation_p.L82M|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	82						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		GGCTGCTCTGCTGGGGGTCAT	0.458000														156			42		6.5261e-18	7.85662e-18	1	1	0
FTSJ1	24140	broad.mit.edu	37	X	48339583	48339583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48339583C>T	uc004djo.1	+	5	729	c.406C>T	c.(406-408)Ctc>Ttc	p.L136F	FTSJ1_uc004djn.1_Missense_Mutation_p.L136F|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	136					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCCAGCTCCTCCTAGCTGT	0.592000														48			17		0	0	1	0	0
HSP90B1	7184	broad.mit.edu	37	12	104340598	104340598	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104340598C>A	uc001tkb.1	+	15	2246	c.2141C>A	c.(2140-2142)gCt>gAt	p.A714D	HSP90B1_uc010swg.1_Missense_Mutation_p.A379D|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	Homo sapiens heat shock protein 90kDa beta (Grp94), member 1 (HSP90B1), mRNA.	714					ER-associated protein catabolic process|actin rod assembly|anti-apoptosis|cellular response to ATP|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|RNA binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TTGGATCTTGCTGTGGTTTTG	0.353000														67			20		3.51602e-12	4.04451e-12	1	1	0
NSUN2	54888	broad.mit.edu	37	5	6604331	6604331	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6604331T>G	uc003jdu.3	-	16	2258	c.1877A>C	c.(1876-1878)gAt>gCt	p.D626A	NSUN2_uc003jdt.3_Missense_Mutation_p.D390A|NSUN2_uc011cmk.2_Missense_Mutation_p.D591A|NSUN2_uc003jdv.3_Missense_Mutation_p.D390A	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	626						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TATCTTAACATCTTCCATTGA	0.363000														57			13		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47589067	47589067	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47589067G>A	uc003gxk.1	+	21	3949	c.3785G>A	c.(3784-3786)aGc>aAc	p.S1262N	ATP10D_uc003gxl.1_Missense_Mutation_p.S510N	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1262					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATCATTGGTAGCATCTTGTCT	0.433000														120			19		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25042948	25042948	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25042948G>A	uc010ykm.2	-	20	3490	c.3291C>T	c.(3289-3291)taC>taT	p.Y1097Y	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Silent_p.Y683Y|ADCY3_uc002rfs.4_Silent_p.Y1096Y	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1096					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGCGGAAGCCGTACTCTCGGA	0.612000														94			16		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060793	40060793	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060793G>T	uc003ayc.3	+	20	3716	c.3716G>T	c.(3715-3717)aGc>aTc	p.S1239I	CACNA1I_uc003ayd.3_Missense_Mutation_p.S1204I|CACNA1I_uc003aye.3_Missense_Mutation_p.S1154I|CACNA1I_uc003ayf.3_Missense_Mutation_p.S1119I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1239					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)	CTACGCAGCAGCTGGAACGTG	0.677000														72			8		1.26484e-09	1.4081e-09	1	1	0
LRRC6	23639	broad.mit.edu	37	8	133645086	133645086	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133645086C>T	uc003ytk.3	-	4	627	c.553G>A	c.(553-555)Gaa>Aaa	p.E185K	LRRC6_uc022bbp.1_Missense_Mutation_p.E185K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	185						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAGCCTCTTCCTTGAGTTTG	0.423000														190			45		0	0	1	0	0
LONP2	83752	broad.mit.edu	37	16	48381426	48381426	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:48381426G>A	uc002efi.1	+	12	2036	c.1947G>A	c.(1945-1947)caG>caA	p.Q649Q	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Silent_p.Q605Q	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	649					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGGTATCTCAGCGTTTGAGTC	0.498000														138			36		0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41805740	41805740	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41805740G>A	uc003jmn.3	-	8	1215	c.884C>T	c.(883-885)gCt>gTt	p.A295V		NM_000436	NP_000427	P55809	SCOT1_HUMAN	Homo sapiens 3-oxoacid CoA transferase 1 (OXCT1), nuclear gene encoding mitochondrial protein, mRNA.	295					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	TCCAGGTTTAGCAGATTTGGC	0.423000														116			22		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306443	133306443	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133306443C>T	uc001ukx.2	-	10	2372	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	ANKLE2_uc009zyw.1_Missense_Mutation_p.A124T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	769						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTTTCTACTGCATTGATTCTT	0.423000														146			31		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48193388	48193388	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48193388C>T	uc002iqf.3	-	4	865	c.566G>A	c.(565-567)cGc>cAc	p.R189H	SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Missense_Mutation_p.R189H	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	189										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GAACTTTCGGCGAGTCTTCTT	0.627000														94			17		0	0	1	0	0
ASCL4	121549	broad.mit.edu	37	12	108169235	108169235	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108169235C>T	uc001tmr.3	+	0	1074	c.243C>T	c.(241-243)cgC>cgT	p.R81R		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	80					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						GCAACGAGCGCGAGCGGCAGC	0.716000														27			5		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534276	92534276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534276G>A	uc001pdj.4	+	8	8114	c.8097G>A	c.(8095-8097)ttG>ttA	p.L2699L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2699	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCACGTCTTGCCCCCTGAAA	0.463000										TCGA Ovarian(4;0.039)				61			9		0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158064849	158064849	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158064849A>G	uc001frn.4	+	14	2617	c.2213A>G	c.(2212-2214)tAc>tGc	p.Y738C	KIRREL_uc010pib.2_Missense_Mutation_p.Y638C|KIRREL_uc009wsq.3_Missense_Mutation_p.Y574C|KIRREL_uc001fro.4_Missense_Mutation_p.Y552C|hCG_1995134_uc001frp.2_5'Flank	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	Homo sapiens kin of IRRE like (Drosophila) (KIRREL), mRNA.	738						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CGATTCTCCTACACCTCCCAG	0.652000														63			26		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197073218	197073218	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073218C>A	uc001gtu.3	-	17	5420	c.5163G>T	c.(5161-5163)aaG>aaT	p.K1721N	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1721					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACTCTTCTCTCTTTTGTGCAG	0.378000														152			13		5.50884e-06	5.8131e-06	1	1	0
AKAP10	11216	broad.mit.edu	37	17	19835269	19835269	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19835269G>A	uc002gwo.3	-	9	1627	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	AKAP10_uc002gwp.1_Missense_Mutation_p.S497F|AKAP10_uc010cqw.1_Intron	NM_007202	NP_009133	O43572	AKA10_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA.	497	RGS 2.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					AAGATTGCTGGACAAAAAGCC	0.353000														90			5		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1112481	1112481	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1112481C>T	uc002lrk.4	-	20	2673	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	SBNO2_uc002lrj.4_Missense_Mutation_p.R755H|SBNO2_uc010dse.3_Missense_Mutation_p.R795H	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	812					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGACACGGCGGTCGGCTTG	0.706000														35			6		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125447554	125447554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125447554C>T	uc001lhh.3	+	2	945	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	298					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R298*(2)|p.R298Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CTCCTTACTGCGACACCAGTA	0.597000														165			27		0	0	1	0	0
SLC16A14	151473	broad.mit.edu	37	2	230911293	230911293	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:230911293G>A	uc002vqd.2	-	3	1008	c.549C>T	c.(547-549)tgC>tgT	p.C183C	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.C183C|SLC16A14_uc002vqf.3_Silent_p.C183C	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	183						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CGTACTCTGCGCACAGGTACT	0.577000														236			44		0	0	1	0	0
CCNA2	890	broad.mit.edu	37	4	122743722	122743722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:122743722G>A	uc003iec.4	-	1	598	c.293C>T	c.(292-294)gCg>gTg	p.A98V		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	98					Ras protein signal transduction|cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						AATGGTGAACGCAGGCTGTTT	0.418000														136			40		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102067280	102067280	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102067280T>G	uc001tii.3	+	23	2808	c.2668T>G	c.(2668-2670)Tct>Gct	p.S890A	MYBPC1_uc001tig.3_Missense_Mutation_p.S897A|MYBPC1_uc010svr.2_Missense_Mutation_p.S872A|MYBPC1_uc010svs.2_Missense_Mutation_p.S890A|MYBPC1_uc001tij.3_Missense_Mutation_p.S872A|MYBPC1_uc010svt.2_Missense_Mutation_p.S860A|MYBPC1_uc010svu.2_Missense_Mutation_p.S853A|MYBPC1_uc001tik.3_Missense_Mutation_p.S846A|MYBPC1_uc001tih.3_Missense_Mutation_p.S897A|MYBPC1_uc010svq.2_Missense_Mutation_p.S859A|MYBPC1_uc001til.3_5'UTR	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	890	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATTCGCAACTCTGAGACTGA	0.383000														220			50		0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54959869	54959869	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54959869C>A	uc004dty.1	-	13	1454	c.1383G>T	c.(1381-1383)gaG>gaT	p.E461D	PFKFB1_uc010nkd.1_Missense_Mutation_p.E269D|PFKFB1_uc011mol.1_Missense_Mutation_p.E396D	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	461	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						CCAGGGCTTCCTCAGGTTCCC	0.542000														62			16		4.7546e-09	5.25358e-09	1	1	0
USP24	23358	broad.mit.edu	37	1	55589226	55589226	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55589226C>T	uc021onw.1	-	35	4423	c.4170G>A	c.(4168-4170)gcG>gcA	p.A1390A	USP24_uc001cyg.4_Silent_p.A1224A	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1390					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A1390A(1)|p.A1307A(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGATTCCCGCATGCAGGG	0.493000														18			3		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537600	95537600	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537600C>T	uc002stw.1	+	0	369	c.276C>T	c.(274-276)ggC>ggT	p.G92G	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	92					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCACAGTGGGCGAGCGACTGC	0.687000														47			31		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57134102	57134102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57134102C>T	uc002qnm.4	+	2	1685	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	ZNF71_uc021vcg.1_Missense_Mutation_p.R483C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	483						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GAACCTGACGCGCCACCTGCG	0.652000														139			23		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69749792	69749792	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69749792C>T	uc004dyl.3	-	29	2785	c.2623G>A	c.(2623-2625)Gta>Ata	p.V875I	TEX11_uc004dyk.3_Missense_Mutation_p.V550I|TEX11_uc004dym.3_Missense_Mutation_p.V860I	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	875							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AACATAAGTACTCCGGTATTC	0.438000														110			36		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12252968	12252968	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12252968C>T	uc001att.3	+	5	689	c.600C>T	c.(598-600)tgC>tgT	p.C200C	TNFRSF1B_uc001atu.3_Silent_p.C5C|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	200					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ATGCAGTCTGCACGTCCACGT	0.627000														84			6		0	0	1	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50413104	50413104	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50413104G>A	uc003daq.3	-	20	1916	c.1878C>T	c.(1876-1878)acC>acT	p.T626T	CACNA2D2_uc003dap.3_Silent_p.T626T	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	626					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TAGGCACCCAGGTGTAGTTCC	0.622000														133			26		0	0	1	0	0
PAX9	5083	broad.mit.edu	37	14	37132689	37132689	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132689G>A	uc001wty.4	+	2	1318	c.592G>A	c.(592-594)Gtc>Atc	p.V198I	PAX9_uc010amq.3_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	198					multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		CTCGCACTCCGTCACCGACAT	0.716000														176			43		0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50060441	50060441	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50060441C>A	uc002pok.3	-	5	476	c.324G>T	c.(322-324)caG>caT	p.Q108H	NOSIP_uc002pol.3_Missense_Mutation_p.Q108H|NOSIP_uc010yay.1_Non-coding_Transcript	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	108					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		GCACATGGTCCTGCGAGGCCG	0.677000														23			6		8.12818e-05	8.44191e-05	1	1	0
FBXW9	84261	broad.mit.edu	37	19	12800936	12800936	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12800936A>T	uc010dyx.2	-	5	932	c.932T>A	c.(931-933)aTc>aAc	p.I311N	FBXW9_uc010xmp.2_Intron|AX747991_uc002mul.1_3'UTR|FBXW9_uc002mum.1_Intron	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN	Homo sapiens F-box and WD repeat domain containing 9 (FBXW9), mRNA.	321							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						TTCATGGGTGATGGGCCGGTG	0.632000														110			31		0	0	1	0	0
SERPINB12	89777	broad.mit.edu	37	18	61231236	61231236	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61231236G>T	uc010xeo.2	+	4	588	c.588G>T	c.(586-588)aaG>aaT	p.K196N	SERPINB12_uc010xen.2_Missense_Mutation_p.K176N	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	176					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCTTCAGCAAGGACGCTATTA	0.368000														153			25		3.08376e-08	3.36903e-08	1	1	0
MRGPRD	116512	broad.mit.edu	37	11	68747857	68747857	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68747857G>A	uc010rqf.2	-	0	599	c.599C>T	c.(598-600)aCc>aTc	p.T200I		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	200						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACAAAGAGGGTCAGGCTGGA	0.592000														73			16		0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38933354	38933354	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38933354T>G	uc003jln.2	+	17	3150	c.2748T>G	c.(2746-2748)aaT>aaG	p.N916K	OSMR_uc011cpj.2_Missense_Mutation_p.N120K	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	916					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)					CAAGTTTGAATTATGTGTCCC	0.443000														200			37		0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30039014	30039014	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30039014G>A	uc003npe.3	-	3	1199	c.1137C>T	c.(1135-1137)taC>taT	p.Y379Y	RNF39_uc003npd.3_Intron	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	379	B30.2/SPRY.					cytoplasm	zinc ion binding										AGCGGCCGTCGTAGAAGGCCA	0.721000														51			6		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55748704	55748704	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55748704G>A	uc004dup.3	+	2	863	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RRAGB_uc004duq.3_Missense_Mutation_p.R71H	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	71					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GACACACGTCGCCTTGGCGCA	0.398000														66			11		0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78711157	78711157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:78711157C>T	uc003dqe.2	-	14	2282	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	ROBO1_uc003dqc.2_Missense_Mutation_p.E656K|ROBO1_uc003dqd.2_Missense_Mutation_p.E656K|ROBO1_uc003dqb.2_Missense_Mutation_p.E653K|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.E264K|ROBO1_uc003dqf.1_Missense_Mutation_p.E371K	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	692	Fibronectin type-III 2.				Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CAGTGCACTTCGATGGAAGAG	0.463000														17			5		0	0	1	0	0
ASB9	140462	broad.mit.edu	37	X	15276992	15276992	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:15276992C>A	uc004cwl.3	-	1	467	c.170G>T	c.(169-171)aGc>aTc	p.S57I	ASB9_uc004cwm.3_Missense_Mutation_p.S57I|ASB9_uc004cwk.3_Missense_Mutation_p.S57I|ASB9_uc010ner.3_Missense_Mutation_p.S57I|ASB9_uc004cwn.2_Missense_Mutation_p.S57I	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	57					intracellular signal transduction			p.I56F(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCTACCTGGCTGATGAGGTT	0.373000														98			27		1.04121e-07	1.12981e-07	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144863415	144863415	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144863415C>T	uc021ouh.1	-	36	6290	c.5988G>A	c.(5986-5988)caG>caA	p.Q1996Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.Q1996Q|PDE4DIP_uc001elx.4_Silent_p.Q1890Q|PDE4DIP_uc001elv.4_Silent_p.Q1003Q|PDE4DIP_uc001ema.3_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1996					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CACACTGTTGCTGCAGGAGAA	0.532000			T	PDGFRB	MPD									317			22		0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51860756	51860756	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51860756C>A	uc010ufy.2	-	3	439	c.214_splice	c.e3-1	p.I72_splice	DMXL2_uc002abf.3_Splice_Site_p.I72_splice|DMXL2_uc010bfa.3_Splice_Site_p.I72_splice|DMXL2_uc002abg.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	72						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTGCAATCTAAAAAAGAA	0.249000														26			9		1.12685e-05	1.18529e-05	1	1	0
AZIN1	51582	broad.mit.edu	37	8	103845355	103845355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103845355G>A	uc003ykx.3	-	9	1575	c.833C>T	c.(832-834)tCt>tTt	p.S278F	AZIN1_uc003yky.3_Missense_Mutation_p.S278F	NM_015878	NP_680479	O14977	AZIN1_HUMAN	Homo sapiens antizyme inhibitor 1 (AZIN1), transcript variant 1, mRNA.	278					polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	catalytic activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			AAATGCAGAAGACACATAGTA	0.338000														57			16		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389924	57389924	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389924C>T	uc021qzf.1	+	0	931	c.931C>T	c.(931-933)Ctg>Ttg	p.L311L	GPR182_uc001smk.3_Silent_p.L311L	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CTTCTCCATGCTGCACTGTGT	0.542000														447			43		0	0	1	0	0
MSI1	4440	broad.mit.edu	37	12	120783401	120783401	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120783401T>G	uc001tye.1	-	13	1146	c.1082A>C	c.(1081-1083)tAc>tCc	p.Y361S		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	361					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTTCAGTGGTACCCATTGGT	0.572000														178			30		0	0	1	0	0
SLC25A41	284427	broad.mit.edu	37	19	6427420	6427420	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6427420G>A	uc010dus.3	-	4	803	c.717C>T	c.(715-717)cgC>cgT	p.R239R	KHSRP_uc002mer.4_5'Flank|SLC25A41_uc010dut.3_Silent_p.R101R	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	239					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GGTAAAGGGCGCGGGTGCCCT	0.637000														44			10		0	0	1	0	0
ASNS	440	broad.mit.edu	37	7	97498323	97498323	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97498323C>T	uc003uot.4	-	2	652	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.R28Q|ASNS_uc003uou.4_Missense_Mutation_p.R49Q|ASNS_uc003uov.4_Missense_Mutation_p.R49Q|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	49	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACCGCCAACCGGTGAAATCC	0.448000														88			23		0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152960076	152960076	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152960076G>A	uc004fib.3	+	10	1862	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	SLC6A8_uc004fic.3_Silent_p.P518P|SLC6A8_uc011myx.1_Silent_p.P413P|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	528					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCTTCACCCCGCTGGTCTGCA	0.652000														85			34		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004951	41004951	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41004951G>A	uc002ibv.3	+	0	1751	c.1591G>A	c.(1591-1593)Gat>Aat	p.D531N		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	531					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGTGGATCTGGATGTAGCAGG	0.502000														93			23		0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52702259	52702259	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52702259A>G	uc010snq.2	+	9	1484	c.1351A>G	c.(1351-1353)Acc>Gcc	p.T451A	KRT86_uc009zmg.3_Missense_Mutation_p.T451A|KRT81_uc001sac.3_5'Flank|KRT86_uc001sad.3_Missense_Mutation_p.T451A	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	451	Tail.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTTGTCTCCACCAGAGTCAG	0.667000														77			16		0	0	1	0	0
SOD1	6647	broad.mit.edu	37	21	33036201	33036201	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33036201T>C	uc002ypa.3	+	2	317	c.169_splice	c.e2+2	p.G57_splice		NM_000454	NP_000445	P00441	SODC_HUMAN	Homo sapiens superoxide dismutase 1, soluble (SOD1), mRNA.	57					DNA fragmentation involved in apoptotic nuclear change|activation of MAPK activity|auditory receptor cell stereocilium organization|cell aging|cellular iron ion homeostasis|double-strand break repair|embryo implantation|glutathione metabolic process|heart contraction|hydrogen peroxide biosynthetic process|locomotory behavior|muscle cell homeostasis|myeloid cell homeostasis|negative regulation of cholesterol biosynthetic process|negative regulation of neuron apoptosis|neurofilament cytoskeleton organization|ovarian follicle development|peripheral nervous system myelin maintenance|placenta development|platelet activation|platelet degranulation|positive regulation of cytokine production|regulation of T cell differentiation in thymus|regulation of blood pressure|regulation of mitochondrial membrane potential|regulation of multicellular organism growth|regulation of organ growth|relaxation of vascular smooth muscle|removal of superoxide radicals|response to axon injury|response to drug|response to ethanol|response to heat|response to hydrogen peroxide|retina homeostasis|sensory perception of sound|spermatogenesis|thymus development	cytoplasmic vesicle|cytosol|dendrite cytoplasm|extracellular matrix|extracellular space|mitochondrial matrix|neuronal cell body|nucleus|peroxisome|protein complex	chaperone binding|copper ion binding|protein homodimerization activity|protein phosphatase 2B binding|superoxide dismutase activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)	4						ATACAGCAGGTGGGTGTTGTG	0.443000														82			10		0	0	1	0	0
OR8B12	219858	broad.mit.edu	37	11	124413189	124413189	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124413189C>T	uc010sam.2	-	0	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001005195	NP_001005195	Q8NGG6	OR8BC_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		GGCCACGTAGCGGTCATACGC	0.502000														104			13		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43262376	43262376	+	Silent	SNP	G	T	T	rs143610580		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43262376G>T	uc002lbe.3	+	19	3471	c.2655G>T	c.(2653-2655)ccG>ccT	p.P885P	SLC14A2_uc010dnj.3_Silent_p.P885P	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	885						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.P885P(2)|p.P885Q(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAAGCTCCCGCTCAGCAAAG	0.542000														352			73		5.61366e-43	7.14633e-43	1	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88284449	88284449	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:88284449T>G	uc011lte.2	-	6	836	c.769A>C	c.(769-771)Atg>Ctg	p.M257L	AGTPBP1_uc011ltc.2_Missense_Mutation_p.M103L|AGTPBP1_uc011ltd.2_Missense_Mutation_p.M205L|AGTPBP1_uc010mqc.3_Missense_Mutation_p.M205L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	205					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						ATTTTAAACATCAGTTCCACA	0.343000														50			14		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225918	133225918	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225918G>T	uc001uks.1	-	30	4023	c.3979C>A	c.(3979-3981)Ctg>Atg	p.L1327M	POLE_uc001ukr.1_Missense_Mutation_p.L131M|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.L1300M	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1327					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGAAGGTCCAGGATGCTGCGG	0.662000								DNA polymerases (catalytic subunits)						127			21		7.45023e-12	8.53574e-12	1	1	0
GCNT1	2650	broad.mit.edu	37	9	79118164	79118164	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79118164C>T	uc022bif.1	+	0	867	c.867C>T	c.(865-867)ttC>ttT	p.F289F	GCNT1_uc010mpf.3_Silent_p.F289F|GCNT1_uc010mpg.3_Silent_p.F289F|GCNT1_uc010mph.3_Silent_p.F289F|GCNT1_uc004akf.4_Silent_p.F289F|GCNT1_uc010mpi.3_Silent_p.F289F|GCNT1_uc004akh.4_Silent_p.F289F	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	289	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.F289F(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GTGCCTACTTCGTGGTCAGTA	0.458000														145			32		0	0	1	0	0
FAM211A	388341	broad.mit.edu	37	17	16365615	16365615	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16365615T>G	uc010cph.1	-	1	508	c.332A>C	c.(331-333)gAc>gCc	p.D111A	FAM211A_uc002gqh.2_Missense_Mutation_p.D111A|C17orf76-AS1_uc010vwo.1_Intron|C17orf76-AS1_uc010vwp.1_Intron|C17orf76-AS1_uc010vwl.1_Intron|C17orf76-AS1_uc010vwm.1_Intron|C17orf76-AS1_uc010vwn.1_Intron|C17orf76-AS1_uc021tra.1_Intron|C17orf76-AS1_uc021trb.1_Intron|C17orf76-AS1_uc021trc.1_Intron|C17orf76-AS1_uc010cpe.2_Intron	NM_001113567	NP_001107039	Q8NAA5	CQ076_HUMAN	Homo sapiens family with sequence similarity 211, member A (FAM211A), transcript variant 1, mRNA.	111										lung(1)	1						GATGATGAGGTCGTGTGTGAT	0.627000														70			8		0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110960151	110960151	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110960151A>G	uc001trf.4	+	9	1198	c.1060A>G	c.(1060-1062)Agt>Ggt	p.S354G	RAD9B_uc001trg.4_Missense_Mutation_p.S354G|RAD9B_uc010sya.2_Missense_Mutation_p.S285G|RAD9B_uc001tre.4_Missense_Mutation_p.S282G|RAD9B_uc001trd.4_Missense_Mutation_p.S196G	NM_152442	NP_689655	Q6WBX8	RAD9B_HUMAN	Homo sapiens RAD9 homolog B (S. pombe) (RAD9B), mRNA.	351					DNA repair|DNA replication|cell cycle checkpoint	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGGAGATGTCAGTGAAGTATC	0.453000														22			12		0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171532714	171532714	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171532714C>A	uc003mbo.1	-	6	1116	c.816G>T	c.(814-816)aaG>aaT	p.K272N		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	272	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGGGCTATCTTCAGGAAGT	0.597000														118			27		1.16021e-09	1.29201e-09	1	1	0
KDM2B	84678	broad.mit.edu	37	12	121891035	121891035	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121891035C>T	uc001uat.3	-	12	1951	c.1847G>A	c.(1846-1848)tGc>tAc	p.C616Y	KDM2B_uc010szy.2_Missense_Mutation_p.C56Y|KDM2B_uc001uaq.3_Missense_Mutation_p.C56Y|KDM2B_uc001uar.3_Missense_Mutation_p.C207Y|KDM2B_uc001uas.3_Missense_Mutation_p.C585Y|KDM2B_uc021rfd.1_Missense_Mutation_p.C585Y|KDM2B_uc001uau.3_Missense_Mutation_p.C499Y|KDM2B_uc021rfe.1_Missense_Mutation_p.C616Y	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	616					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GCAGGCCTCGCACTTGCGGCA	0.697000														55			18		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73752585	73752585	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73752585C>A	uc002jpg.3	+	35	4971	c.4784C>A	c.(4783-4785)tCc>tAc	p.S1595Y	ITGB4_uc002jph.3_Missense_Mutation_p.S1525Y|ITGB4_uc002jpi.4_Missense_Mutation_p.S1525Y|ITGB4_uc002jpj.3_Missense_Mutation_p.S1578Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1595	Fibronectin type-III 3.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCAACCACTCCTACGTGTTC	0.657000														272			47		1.19451e-25	1.4896e-25	1	1	0
ZSWIM4	65249	broad.mit.edu	37	19	13936465	13936465	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13936465A>G	uc002mxh.1	+	10	2155	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	ZSWIM4_uc010xng.1_Missense_Mutation_p.T579A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	656							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CAAGACAGCCACCCCGGTCAG	0.667000														176			38		0	0	1	0	0
FAM19A5	25817	broad.mit.edu	37	22	49042475	49042475	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:49042475C>T	uc003bim.4	+	1	296	c.179C>T	c.(178-180)aCg>aTg	p.T60M	FAM19A5_uc003bio.4_Missense_Mutation_p.T53M	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	60						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CCTCGGAGGACGATCGCCCGG	0.692000														77			9		0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48519159	48519159	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48519159G>A	uc002pht.3	+	3	396	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	73	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GATTACCCACGCTGTATCTTC	0.463000														84			27		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123516989	123516989	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123516989C>T	uc003vlc.3	+	4	1864	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	HYAL4_uc011knz.2_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	409					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CACATAGAGGCCTCTGAGGAC	0.483000														138			27		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18062626	18062626	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18062626G>T	uc021trm.1	+	52	9413	c.9194G>T	c.(9193-9195)aGc>aTc	p.S3065I	MYO15A_uc021trl.1_Missense_Mutation_p.S3063I|MYO15A_uc010vxi.2_Missense_Mutation_p.S329I|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_Missense_Mutation_p.S54I|MYO15A_uc002gsl.3_5'UTR|MYO15A_uc010vxm.2_5'Flank|MYO15A_uc002gsm.1_5'Flank|MYO15A_uc010cpv.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3065	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTCAGCGACAGCAGCCTCAGC	0.587000														101			15		3.27435e-08	3.57295e-08	1	1	0
EEA1	8411	broad.mit.edu	37	12	93226446	93226446	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:93226446C>T	uc001tck.3	-	10	1361	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	366					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TCACTTAGTTCTACATGTATT	0.393000														113			18		0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89753204	89753204	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89753204G>T	uc010cio.3	+	1	130	c.87_splice	c.e1+1	p.R29_splice	BC031657_uc002fnz.4_5'Flank|CDK10_uc002foa.2_Splice_Site_p.R29_splice|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Splice_Site_p.R29_splice|CDK10_uc002fob.2_Splice_Site|CDK10_uc002fod.3_Intron|CDK10_uc002foe.3_Intron|CDK10_uc002fof.3_Intron|CDK10_uc002fog.4_Splice_Site|CDK10_uc002foh.4_Splice_Site	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	29					negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		CCGGAACACAGGGTGCGCGGG	0.697000														62			8		0.000157383	0.000162836	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70413134	70413134	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70413134G>T	uc001vip.3	-	5	2182	c.1388C>A	c.(1387-1389)gCt>gAt	p.A463D	KLHL1_uc010thm.2_Missense_Mutation_p.A402D	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	463					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Y462C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCCTCCTACAGCATACAAAGT	0.343000														45			8		0.000274275	0.000282808	1	1	0
CRELD1	78987	broad.mit.edu	37	3	9982832	9982832	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982832G>T	uc003buf.3	+	6	774	c.675G>T	c.(673-675)gaG>gaT	p.E225D	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.E225D|CRELD1_uc003bug.3_Missense_Mutation_p.E225D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	225					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CAGGACCTGAGGAATCAAACT	0.602000														147			32		4.39465e-27	5.50204e-27	1	1	0
ACSS1	84532	broad.mit.edu	37	20	25003612	25003612	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25003612C>T	uc002wub.3	-	4	1004	c.924G>A	c.(922-924)caG>caA	p.Q308Q	ACSS1_uc002wuc.3_Silent_p.Q308Q|ACSS1_uc021wbm.1_Silent_p.Q308Q|ACSS1_uc010gdc.3_Intron|ACSS1_uc002wua.3_Silent_p.Q225Q|ACSS1_uc021wbl.1_Silent_p.Q187Q|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	308					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGTAGCCTGCCTGGGTATGGA	0.637000														75			7		0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222947	50222947	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50222947G>A	uc003cyj.3	+	13	1726	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	SEMA3F_uc003cyk.3_Missense_Mutation_p.E479K	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	510	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CATGCTGGAGGAGGTGGAGGT	0.627000														59			13		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103357683	103357683	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103357683C>A	uc003ykr.2	-	7	1282	c.827G>T	c.(826-828)aGc>aTc	p.S276I	UBR5_uc003yks.2_Missense_Mutation_p.S276I	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	276					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ACCAAAATAGCTAATGTCTTC	0.393000														40			7		0.00198382	0.00202356	1	1	0
KLHL22	84861	broad.mit.edu	37	22	20800760	20800760	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20800760G>A	uc002zsl.2	-	5	1666	c.1509C>T	c.(1507-1509)aaC>aaT	p.N503N	KLHL22_uc011ahr.2_Silent_p.N360N	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	503					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			ATCCGGCATCGTTGTTGCTGC	0.597000														85			15		0	0	1	0	0
RPL22L1	200916	broad.mit.edu	37	3	170585924	170585924	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:170585924C>A	uc003fhc.4	-	3	192	c.103_splice	c.e3-1	p.E35_splice	RPL22L1_uc003fhb.4_Non-coding_Transcript	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.	35					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GAAATTGCTCCTATTTTAAAA	0.358000														11			3		0.00909568	0.00920877	1	1	0
FBXO41	150726	broad.mit.edu	37	2	73486119	73486119	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73486119G>A	uc021vjh.1	-	11	2709	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	873						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GTTAGCAGCCGCCTTCCACCT	0.642000														14			8		0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30665300	30665300	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30665300T>C	uc002hhg.3	-	3	488	c.418A>G	c.(418-420)Acg>Gcg	p.T140A		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	140					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGTCTATCGTTACTGTTTCA	0.358000														137			11		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10227477	10227477	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10227477C>A	uc002gmk.1	-	22	2886	c.2796G>T	c.(2794-2796)gaG>gaT	p.E932D	MYH13_uc010vve.1_Missense_Mutation_p.E30D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	932					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCTCCTCTTCCTCTTCCAATC	0.458000														77			10		3.86212e-05	4.026e-05	1	1	0
NAT8L	339983	broad.mit.edu	37	4	2062757	2062757	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2062757C>T	uc003geq.2	+	1	409	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	137						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTCGCTGCTGCTGACGTGCCT	0.746000														19			8		0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25565534	25565534	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:25565534G>A	uc002kwg.2	-	11	2392	c.1933C>T	c.(1933-1935)Cca>Tca	p.P645S	CDH2_uc010xbn.1_Missense_Mutation_p.P614S	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	645	Cadherin 5.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATAGTCACTGGAGATAAAGGA	0.373000														77			13		0	0	1	0	0
ZNF192	7745	broad.mit.edu	37	6	28117327	28117327	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28117327G>T	uc003nkn.1	+	2	668	c.484G>T	c.(484-486)Gag>Tag	p.E162*	ZNF192_uc010jqx.1_Nonsense_Mutation_p.E162*|ZNF192_uc010jqy.1_5'UTR|ZNF192_uc011dkz.1_5'UTR	NM_006298	NP_006289	Q15776	ZN192_HUMAN	Homo sapiens zinc finger protein 192 (ZNF192), mRNA.	162					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						ATCTGCACCAGAGCCTCCAAA	0.478000														108			16		3.52763e-06	3.73571e-06	1	1	0
FAM78B	149297	broad.mit.edu	37	1	166039799	166039799	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039799G>A	uc021pef.1	-	1	938	c.465C>T	c.(463-465)agC>agT	p.S155S	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	155										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					GTGGCACATTGCTGTCACTCA	0.522000														306			73		0	0	1	0	0
INSIG1	3638	broad.mit.edu	37	7	155093360	155093360	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155093360G>T	uc003wly.3	+	2	708	c.497G>T	c.(496-498)cGc>cTc	p.R166L	INSIG1_uc003wlz.3_Intron|INSIG1_uc011kvu.2_Intron	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	166					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGTCATGCGCTGCATAGCA	0.433000														160			36		1.06647e-15	1.26527e-15	1	1	0
SIGMAR1	10280	broad.mit.edu	37	9	34635839	34635839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34635839G>A	uc003zvb.3	-	3	536	c.462C>T	c.(460-462)caC>caT	p.H154H	SIGMAR1_uc003zva.4_Silent_p.H134H|SIGMAR1_uc003zuz.3_Silent_p.H65H|SIGMAR1_uc003zvd.3_Non-coding_Transcript|SIGMAR1_uc003zvc.3_Silent_p.H123H|SIGMAR1_uc011loo.1_Intron	NM_005866	NP_005857	Q99720	SGMR1_HUMAN	Homo sapiens sigma non-opioid intracellular receptor 1 (SIGMAR1), transcript variant 1, mRNA.	154					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	CACCAGGCCCGTGTACTACCG	0.647000														105			15		0	0	1	0	0
ERCC4	2072	broad.mit.edu	37	16	14041754	14041754	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14041754C>T	uc002dce.2	+	10	2310	c.2301C>T	c.(2299-2301)ttC>ttT	p.F767F	ERCC4_uc010uyz.1_Silent_p.F317F	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	767	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCAAGCCTTTCTCTCTCACTT	0.498000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					171			46		0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296785	9296785	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9296785C>A	uc002mkz.1	+	0	516	c.328C>A	c.(328-330)Ctg>Atg	p.L110M		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	110					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L110V(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTTTCCTATTCTGGACACGCT	0.517000														260			60		7.89702e-26	9.85349e-26	1	1	0
DPYS	1807	broad.mit.edu	37	8	105463555	105463555	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105463555G>A	uc003yly.4	-	1	471	c.342C>T	c.(340-342)ttC>ttT	p.F114F		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	114					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCCAGGTCTCGAAGGCCTCAA	0.517000														62			18		0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22142594	22142594	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22142594C>T	uc010vbq.2	+	17	1817	c.1721C>T	c.(1720-1722)gCc>gTc	p.A574V	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A582V	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	574	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTACAAAGTGCCTGGCGGTAG	0.498000														37			13		0	0	1	0	0
DNAJC9	23234	broad.mit.edu	37	10	75006444	75006444	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75006444A>G	uc001jtr.3	-	2	636	c.321_splice	c.e2+1	p.K107_splice	DNAJC9_uc010qkg.2_Splice_Site_p.K107_splice|DNAJC9-AS1_uc021ptm.1_5'Flank	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	107					protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					AGAGTCCTTTACCTTTTTAAA	0.448000														104			28		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8974076	8974076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8974076G>A	uc002mkp.3	-	75	42799	c.42595C>T	c.(42595-42597)Cgg>Tgg	p.R14199W	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R999W|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14230	SEA 14.			Missing (in Ref. 3; AAK74120).	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						TACTCGCCCCGGATTGATAAA	0.478000														22			3		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3235453	3235453	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3235453C>T	uc004crg.4	-	5	6426	c.6269G>A	c.(6268-6270)cGc>cAc	p.R2090H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2090	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCGAGGGGCGGATCTGGGT	0.652000														32			10		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88415481	88415481	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415481G>T	uc010ikm.3	-	4	1043	c.471C>A	c.(469-471)atC>atA	p.I157I	SPARCL1_uc011cdc.2_Silent_p.I32I|SPARCL1_uc003hqs.4_Silent_p.I157I|SPARCL1_uc011cdd.2_Silent_p.I32I	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	157					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTCTCTTTGTGATACTTTCTT	0.403000														167			30		5.45727e-16	6.48868e-16	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147108846	147108846	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108846C>T	uc011bno.2	-	3	1212	c.1026G>A	c.(1024-1026)ccG>ccA	p.P342P	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Silent_p.P222P|ZIC4_uc021xff.1_Silent_p.P330P|ZIC4_uc003ewd.2_Silent_p.P292P|ZIC4_uc021xfg.1_Silent_p.P86P	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	292						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AGCTGGGCGGCGGCGAGCGCC	0.677000														133			33		0	0	1	0	0
STK25	10494	broad.mit.edu	37	2	242438508	242438508	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242438508C>T	uc002wbm.3	-	5	938	c.667G>A	c.(667-669)Gtc>Atc	p.V223I	STK25_uc002wbl.3_Missense_Mutation_p.V42I|STK25_uc002wbn.3_Missense_Mutation_p.V223I|STK25_uc002wbo.3_Missense_Mutation_p.V146I|STK25_uc010zos.2_Missense_Mutation_p.V129I|STK25_uc010zot.2_Missense_Mutation_p.V149I|STK25_uc002wbp.3_Missense_Mutation_p.V223I|STK25_uc010fzo.3_Missense_Mutation_p.V146I|STK25_uc010zou.2_Missense_Mutation_p.V129I|STK25_uc010zov.2_Missense_Mutation_p.V129I	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	223	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGGAACAGGACGCGCATGGGG	0.612000														130			35		0	0	1	0	0
TWSG1	57045	broad.mit.edu	37	18	9359999	9359999	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9359999C>T	uc002knz.3	+	2	344	c.153C>T	c.(151-153)ggC>ggT	p.G51G	TWSG1_uc002koa.3_5'UTR	NM_020648	NP_065699	Q9GZX9	TWSG1_HUMAN	Homo sapiens twisted gastrulation homolog 1 (Drosophila) (TWSG1), mRNA.	51	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CGGGAGAAGGCAATTGCTCCT	0.443000														111			28		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65236895	65236895	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65236895G>T	uc002aoa.3	+	11	1141	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Intron	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	371					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AACCATGTCAGCCTGGTGGAC	0.502000														75			13		0.00136819	0.00139829	1	1	0
INSR	3643	broad.mit.edu	37	19	7172365	7172365	+	Missense_Mutation	SNP	C	T	T	rs144929085		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7172365C>T	uc002mgd.1	-	4	1313	c.1204G>A	c.(1204-1206)Gct>Act	p.A402T	INSR_uc002mge.1_Missense_Mutation_p.A402T|INSR_uc002mgf.3_Missense_Mutation_p.A402T	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	402					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACACCAGAGCGTAGGATCGG	0.483000														157			39		0	0	1	0	0
TEX11	56159	broad.mit.edu	37	X	69843825	69843825	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69843825C>T	uc004dyl.3	-	20	1933	c.1771G>A	c.(1771-1773)Gct>Act	p.A591T	TEX11_uc004dyk.3_Missense_Mutation_p.A266T|TEX11_uc004dym.3_Missense_Mutation_p.A576T	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	591							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GGCATTTCAGCAATTTTTGGA	0.308000														72			15		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429074	135429074	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135429074C>T	uc004ezu.1	+	5	3500	c.3209C>T	c.(3208-3210)aCt>aTt	p.T1070I	GPR112_uc010nsb.1_Missense_Mutation_p.T865I|GPR112_uc010nsc.1_Missense_Mutation_p.T837I	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T1070N(2)|p.Q1069H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGGATCAGACTGCTTCCACA	0.468000														322			83		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204416604	204416604	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204416604G>A	uc001haw.3	-	15	2928	c.2449C>T	c.(2449-2451)Cgc>Tgc	p.R817C	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R817C	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	817					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTAAGCTTGCGCTGGTCTTCT	0.552000														148			14		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71235308	71235308	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71235308A>C	uc003pfj.3	+	12	2654	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	FAM135A_uc003pfi.3_Missense_Mutation_p.N645H|FAM135A_uc003pfh.3_Missense_Mutation_p.N628H|FAM135A_uc003pfl.3_Missense_Mutation_p.N508H|FAM135A_uc003pfn.3_Intron|FAM135A_uc003pfo.1_Missense_Mutation_p.N212H|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	841										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GACATCCATAAACTCTCTACC	0.323000														41			15		0	0	1	0	0
TTC9	23508	broad.mit.edu	37	14	71134289	71134289	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71134289C>A	uc001xmi.2	+	1	758	c.415C>A	c.(415-417)Ctc>Atc	p.L139I		NM_015351	NP_056166	Q92623	TTC9A_HUMAN	Homo sapiens tetratricopeptide repeat domain 9 (TTC9), mRNA.	139							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		AGCCTGCCTGCTCCAGGCTGA	0.512000														75			17		1.67942e-08	1.84125e-08	1	1	0
FHDC1	85462	broad.mit.edu	37	4	153896509	153896509	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153896509G>A	uc003inf.2	+	10	2141	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	689					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGTTCCCAGGGCATGGAGGAG	0.622000														130			28		0	0	1	0	0
OIT3	170392	broad.mit.edu	37	10	74671483	74671483	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74671483G>T	uc001jte.1	+	4	894	c.676G>T	c.(676-678)Gga>Tga	p.G226*	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	226						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AGACGTTGAAGGATGCCACAA	0.473000														177			33		6.04164e-23	7.46519e-23	1	1	0
GPR98	84059	broad.mit.edu	37	5	90106690	90106690	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:90106690C>T	uc003kju.3	+	73	15709	c.15613C>T	c.(15613-15615)Cct>Tct	p.P5205S	GPR98_uc003kjt.3_Missense_Mutation_p.P2911S|GPR98_uc003kjw.3_Missense_Mutation_p.P866S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5205					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCTGAAAAGCCTGATGTGGC	0.473000														115			29		0	0	1	0	0
FAM105A	54491	broad.mit.edu	37	5	14601224	14601224	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14601224A>G	uc003jfj.3	+	1	328	c.215A>G	c.(214-216)aAg>aGg	p.K72R		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	72										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TCAGGGCACAAGCTGAAATGG	0.393000														188			34		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559622	140559622	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140559622G>T	uc011dai.2	+	0	2252	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	669	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTTCTCCCAGCCCTACCTGC	0.682000														286			68		8.3131e-28	1.04259e-27	1	1	0
GLB1L3	112937	broad.mit.edu	37	11	134183877	134183877	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134183877G>A	uc009zdf.3	+	16	1982	c.1622G>A	c.(1621-1623)gGc>gAc	p.G541D	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	541					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCCTGGAGGGCTTTACCATC	0.483000														21			4		0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48977504	48977504	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48977504C>T	uc002pjj.4	+	6	913	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	205					actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	p.V204I(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TCCCAATGTCCGGGACAAGCC	0.637000														203			44		0	0	1	0	0
BTBD10	84280	broad.mit.edu	37	11	13438716	13438716	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13438716G>A	uc010rcl.2	-	3	971	c.700C>T	c.(700-702)Cga>Tga	p.R234*	BTBD10_uc001mkz.3_Nonsense_Mutation_p.R226*|BTBD10_uc009ygn.3_Intron|BTBD10_uc010rcm.2_Nonsense_Mutation_p.R178*|BTBD10_uc010rcn.2_Nonsense_Mutation_p.R195*|BTBD10_uc009ygo.3_Nonsense_Mutation_p.R178*	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	226	BTB.					nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		AGAATCGCTCGAAACACAGTG	0.418000														188			53		0	0	1	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30689795	30689795	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30689795C>T	uc010gvu.3	-	8	1002	c.917_splice	c.e8-1	p.G306_splice	TBC1D10A_uc003ahf.3_Splice_Site|TBC1D10A_uc003ahg.3_Splice_Site|TBC1D10A_uc003ahh.3_Splice_Site|TBC1D10A_uc003ahi.3_Splice_Site_p.G157_splice|TBC1D10A_uc010gvq.3_Splice_Site|TBC1D10A_uc003ahk.4_Splice_Site_p.G299_splice	NM_001204240	NP_001191169	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA.	299						intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ATCTTGACCCCTGCATGGGGG	0.612000														153			31		0	0	1	0	0
UPF3A	65110	broad.mit.edu	37	13	115070355	115070355	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115070355C>T	uc001vup.3	+	9	1450	c.1394C>T	c.(1393-1395)tCg>tTg	p.S465L	UPF3A_uc001vuq.3_Missense_Mutation_p.S432L|UPF3A_uc001vur.3_Non-coding_Transcript|UPF3A_uc001vut.3_Missense_Mutation_p.S264L|UPF3A_uc001vuu.3_Missense_Mutation_p.R119W	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog A (yeast) (UPF3A), transcript variant 1, mRNA.	465					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCAGAAGGTTCGGGGACTGGT	0.602000														86			17		0	0	1	0	0
DENND4A	10260	broad.mit.edu	37	15	66044893	66044893	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66044893C>T	uc002api.3	-	3	770	c.385G>A	c.(385-387)Gca>Aca	p.A129T	DENND4A_uc002aph.3_Missense_Mutation_p.A129T|DENND4A_uc002apj.3_Missense_Mutation_p.A129T|DENND4A_uc010ujj.1_Missense_Mutation_p.A129T	NM_001144823	NP_001138295	Q7Z401	MYCPP_HUMAN	Homo sapiens DENN/MADD domain containing 4A (DENND4A), transcript variant 1, mRNA.	129	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						CTAATATTTGCGGGGCGCCCA	0.358000														23			7		0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273896	125273896	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125273896C>A	uc011lyv.2	+	0	816	c.816C>A	c.(814-816)gtC>gtA	p.V272V	OR1J2_uc004bmj.2_Silent_p.V272V	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACAAGGATGTCATTGTGGCTC	0.478000														196			28		2.25844e-05	2.36447e-05	1	1	0
TMBIM4	51643	broad.mit.edu	37	12	66547187	66547187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66547187G>A	uc009zqr.3	-	2	356	c.280C>T	c.(280-282)Ctc>Ttc	p.L94F	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Missense_Mutation_p.L47F|TMBIM4_uc001std.3_Missense_Mutation_p.L16F|TMBIM4_uc001stf.3_Missense_Mutation_p.L47F|TMBIM4_uc009zqs.3_Missense_Mutation_p.L47F	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	47						integral to membrane	protein binding	p.K93E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GTAGTTAAGAGAACCTGCAGA	0.308000														70			15		0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450274	46450274	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46450274G>A	uc010hjg.3	+	1	853	c.740G>A	c.(739-741)aGc>aAc	p.S247N	CCRL2_uc003cpp.4_Missense_Mutation_p.S235N|CCRL2_uc010hjf.3_Missense_Mutation_p.S235N|CCRL2_uc021wxc.1_Missense_Mutation_p.S235N	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	235					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		CAGAGGTATAGCCTTTTCAAG	0.388000														385			99		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148511157	148511157	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148511157A>G	uc003wfd.2	-	14	1923	c.1730T>C	c.(1729-1731)gTc>gCc	p.V577A	EZH2_uc022aov.1_Missense_Mutation_p.V496A|EZH2_uc011kug.2_Missense_Mutation_p.V526A|EZH2_uc003wfb.2_Missense_Mutation_p.V582A|EZH2_uc003wfc.2_Missense_Mutation_p.V538A|EZH2_uc011kuh.2_Missense_Mutation_p.V568A	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	577	Cys-rich.				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.P577Q(1)|p.C576W(1)|p.P577L(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)			ACACTCTCGGACAGCCAGGTA	0.547000			Mis		DLBCL									245			14		0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	40996163	40996163	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40996163C>A	uc003opi.3	-	8	1605	c.1506G>T	c.(1504-1506)gaG>gaT	p.E502D		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	502					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)					CGCCCCCGCGCTCGGGGCCTG	0.687000											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		56			16		6.31663e-08	6.86475e-08	1	1	0
MR1	3140	broad.mit.edu	37	1	181021609	181021609	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181021609G>A	uc001goq.2	+	4	1004	c.843G>A	c.(841-843)gaG>gaA	p.E281E	MR1_uc001gor.2_Silent_p.E236E|MR1_uc001gos.2_Intron|MR1_uc010pns.2_Intron	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	281	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GTCATGTGGAGCACTGCGGTG	0.547000														93			16		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077098	56077098	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56077098A>C	uc010qhy.1	-	8	1219	c.824T>G	c.(823-825)cTt>cGt	p.L275R	PCDH15_uc010qhq.2_Missense_Mutation_p.L275R|PCDH15_uc010qhr.2_Missense_Mutation_p.L270R|PCDH15_uc021pqv.1_Missense_Mutation_p.L270R|PCDH15_uc021pqw.1_Missense_Mutation_p.L275R|PCDH15_uc010qht.2_Missense_Mutation_p.L270R|PCDH15_uc021pqx.1_Missense_Mutation_p.L270R|PCDH15_uc001jjv.1_Missense_Mutation_p.L248R|PCDH15_uc021pqy.1_Missense_Mutation_p.L270R|PCDH15_uc021pqz.1_Missense_Mutation_p.L248R|PCDH15_uc010qhv.1_Missense_Mutation_p.L270R|PCDH15_uc010qhw.1_Missense_Mutation_p.L233R|PCDH15_uc010qhx.1_Missense_Mutation_p.L270R|PCDH15_uc010qhz.1_Missense_Mutation_p.L270R|PCDH15_uc010qia.1_Missense_Mutation_p.L248R|PCDH15_uc001jju.1_Missense_Mutation_p.L270R|PCDH15_uc010qib.1_Missense_Mutation_p.L248R|PCDH15_uc001jjw.3_Missense_Mutation_p.L270R	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	270					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTGGCACAAGGACACAAGG	0.463000										HNSCC(58;0.16)				191			19		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36054427	36054427	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36054427C>T	uc002oal.1	-	1	44	c.15G>A	c.(13-15)gaG>gaA	p.E5E		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	5					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCTCATAGTTCTCCTGGGAAT	0.637000														299			82		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116790	75116790	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75116790T>C	uc002ayt.1	+	12	1424	c.1422T>C	c.(1420-1422)acT>acC	p.T474T	LMAN1L_uc010bke.1_Silent_p.T462T|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	474						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.Q473E(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATTCAGACTGTAGGCTTCT	0.597000														310			74		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216303	111216303	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216303G>A	uc001dzv.1	-	0	1353	c.1129C>T	c.(1129-1131)Ctg>Ttg	p.L377L		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	377						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGCGCGACAGCTTGAAGATG	0.597000														232			21		0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20074873	20074873	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:20074873G>A	uc010nfo.2	-	3	526	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	MAP7D2_uc004czq.2_Missense_Mutation_p.R8C|MAP7D2_uc011mji.2_Missense_Mutation_p.R93C|MAP7D2_uc004czr.2_Missense_Mutation_p.R137C|MAP7D2_uc011mjj.2_Missense_Mutation_p.R137C|MAP7D2_uc004czs.1_Missense_Mutation_p.R93C	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	137										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						TGCTGTGTGCGCTCCAGGGAC	0.557000														80			27		0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44929289	44929289	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44929289T>C	uc003coc.4	+	3	373	c.300_splice	c.e3+2	p.E100_splice	TGM4_uc003coa.2_Missense_Mutation_p.V101A|TGM4_uc003cob.2_Intron	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	100			E -> D (in dbSNP:rs2271087).		peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	GGCAAAGAGGTGAGCACCCAC	0.597000														66			20		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107979104	107979104	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107979104G>A	uc004eoc.2	-	0	504	c.471C>T	c.(469-471)agC>agT	p.S157S		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	157	PH.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGCTCGCTGGCTCACGGAAA	0.637000														151			39		0	0	1	0	0
AAAS	8086	broad.mit.edu	37	12	53708104	53708104	+	Missense_Mutation	SNP	C	T	T	rs141013947		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53708104C>T	uc001scr.4	-	6	830	c.667G>A	c.(667-669)Gac>Aac	p.D223N	AAAS_uc001scs.4_Missense_Mutation_p.D190N	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	223					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						GAGGTAGGGTCCAGGGTCCAG	0.582000														226			33		0	0	1	0	0
AKAP8L	26993	broad.mit.edu	37	19	15511996	15511996	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15511996G>A	uc002naw.1	-	4	880	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.R200W|AKAP8L_uc002nay.1_Missense_Mutation_p.R261W|AKAP8L_uc002naz.3_Missense_Mutation_p.R109W	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	261						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TTCCAGGTCCGCCTCATCTGC	0.652000														473			127		0	0	1	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856691	224856691	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:224856691C>A	uc010zlr.1	-	3	687	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	SERPINE2_uc002vnu.2_Missense_Mutation_p.D172Y|SERPINE2_uc002vnv.2_Missense_Mutation_p.D172Y	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	172					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TCAATAAGATCTGGGGACAGC	0.488000														61			18		7.07596e-05	7.35997e-05	1	1	0
FAM179A	165186	broad.mit.edu	37	2	29258407	29258407	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29258407G>A	uc010ezl.3	+	16	2654	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	FAM179A_uc010ymm.2_Missense_Mutation_p.R713Q|FAM179A_uc002rmr.4_Missense_Mutation_p.R295Q|FAM179A_uc002rms.1_Missense_Mutation_p.R66Q	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	768							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCAGCTACGGGAGCTGACA	0.662000														18			8		0	0	1	0	0
PARP14	54625	broad.mit.edu	37	3	122433238	122433238	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122433238A>C	uc003efq.4	+	11	4021	c.3962A>C	c.(3961-3963)aAa>aCa	p.K1321T	PARP14_uc021xdc.1_Missense_Mutation_p.K1185T|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.K1038T|PARP14_uc003efs.1_Missense_Mutation_p.K1038T	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	1321	Macro 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGTGAAAAAAAAAATTACTCA	0.433000														46			5		0	0	1	0	0
SULF1	23213	broad.mit.edu	37	8	70533385	70533385	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70533385A>C	uc003xyg.2	+	12	2054	c.1493A>C	c.(1492-1494)cAt>cCt	p.H498P	SULF1_uc010lza.1_Missense_Mutation_p.H498P|SULF1_uc003xyd.2_Missense_Mutation_p.H498P|SULF1_uc003xye.2_Missense_Mutation_p.H498P|SULF1_uc003xyf.2_Missense_Mutation_p.H498P|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	498					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.F497F(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CGCGGCTTCCATGACAAAGAC	0.527000														107			21		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42693957	42693957	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42693957G>A	uc001zpn.1	+	10	1779	c.1473G>A	c.(1471-1473)aaG>aaA	p.K491K	CAPN3_uc001zpk.1_Silent_p.K264K|CAPN3_uc001zpl.1_Silent_p.K404K|CAPN3_uc010udf.1_Silent_p.K404K|CAPN3_uc010udg.1_Silent_p.K356K|CAPN3_uc001zpo.1_Silent_p.K491K|CAPN3_uc001zpp.1_Silent_p.K443K|CAPN3_uc001zpq.1_5'Flank	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	491	Domain III.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	p.R490L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCGGCGGAAGGACCGGAAGC	0.577000														56			18		0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112182630	112182630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112182630G>A	uc009zvx.3	+	13	2191	c.1991G>A	c.(1990-1992)aGc>aAc	p.S664N	ACAD10_uc001tsp.3_Missense_Mutation_p.S633N|ACAD10_uc001tsq.3_Missense_Mutation_p.S633N|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	633							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CCCACAGGCAGCAGGAGTTAT	0.567000														161			23		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	A	A	rs149752120	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73500672G>A	uc001jrx.4	+	34	4963	c.4573G>A	c.(4573-4575)Gag>Aag	p.E1525K	CDH23_uc001jsc.1_Missense_Mutation_p.E335K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1528	Cadherin 14.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587000														157			44		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207198256	207198256	+	Missense_Mutation	SNP	G	A	A	rs706846		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207198256G>A	uc001hfd.2	-	2	518	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S	C1orf116_uc009xcb.1_5'UTR|C1orf116_uc021pii.1_5'Flank	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	87			P -> S (in dbSNP:rs706846).			cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					TGGGTTATGGGCAGTGCTCGG	0.592000														128			44		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950910	198950910	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198950910C>T	uc010fsp.3	+	1	3067	c.2669C>T	c.(2668-2670)gCg>gTg	p.A890V	PLCL1_uc002uuv.4_Missense_Mutation_p.A811V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	890					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTAAAATAGCGGTTCATCCA	0.423000														67			21		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065089	73065089	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73065089C>T	uc004ebm.1	-	0		c.7500G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCTTCCATGTCTATTACACAG	0.502000														137			44		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133755491	133755491	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133755491C>A	uc004bzw.3	+	8	1463	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ABL1_uc004bzv.3_Missense_Mutation_p.A506D	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	487	Protein kinase.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding	p.F486S(10)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CCCTCCTTTGCTGAAATCCAC	0.532000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									141			24		4.72057e-08	5.14176e-08	1	1	0
WDR72	256764	broad.mit.edu	37	15	53889435	53889435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53889435C>T	uc002acj.2	-	17	3031	c.2989G>A	c.(2989-2991)Gtt>Att	p.V997I		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	997										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGTTGTTGAACTTCCGCCAAG	0.383000														218			10		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641102	156641102	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641102C>A	uc001fpq.3	-	3	3011	c.2878G>T	c.(2878-2880)Gaa>Taa	p.E960*	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	960	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity	p.Q959*(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGAGCCAGTTCTTGGTCCTTC	0.567000														534			50		1.23713e-20	1.51229e-20	1	1	0
XIRP2	129446	broad.mit.edu	37	2	167760305	167760305	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167760305C>T	uc002udx.3	+	1	402	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	XIRP2_uc010fpn.3_Missense_Mutation_p.R105C|XIRP2_uc010fpo.3_Missense_Mutation_p.R105C	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding	p.R105C(3)		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						GAGCAGTCGGCGCAGGATTGA	0.512000														130			26		0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97578726	97578726	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97578726G>A	uc010kcm.1	+	8	1979	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	KLHL32_uc003poz.2_Missense_Mutation_p.D59N|KLHL32_uc011ead.1_Missense_Mutation_p.D467N|KLHL32_uc011eae.1_Missense_Mutation_p.D434N|KLHL32_uc003ppa.2_Non-coding_Transcript|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	503								p.N502N(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TGGAGGCAATGACCTAGACTA	0.453000														158			13		0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39893757	39893757	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39893757T>G	uc021olw.1	+	26	11921	c.11921T>G	c.(11920-11922)tTg>tGg	p.L3974W	MACF1_uc021ols.1_Missense_Mutation_p.L3472W|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Missense_Mutation_p.L3472W|MACF1_uc001cda.1_Missense_Mutation_p.L3359W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5539					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATAGACTCATTGCAGGCCCGA	0.522000														86			7		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990894	140990894	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:140990894G>A	uc002tvj.1	-	91	14632	c.13660_splice	c.e91-1	p.P4554_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4554					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GTAATTTGTTGGCTGAAGGAG	0.328000										TSP Lung(27;0.18)				54			8		0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45010479	45010479	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45010479G>A	uc003tmh.2	-	7	1170	c.1026C>T	c.(1024-1026)ggC>ggT	p.G342G	MYO1G_uc003tmg.2_Silent_p.G104G|MYO1G_uc010kym.2_Silent_p.G227G|MYO1G_uc003tmi.1_Silent_p.G254G|MYO1G_uc022acj.1_5'Flank|MYO1G_uc003tmj.2_Silent_p.G104G	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	342	Myosin head-like.					myosin complex|plasma membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGCAGTGTGGCCCTTCTCTA	0.662000														119			17		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105948089	105948089	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105948089C>T	uc001kxw.3	-	12	1742	c.1626G>A	c.(1624-1626)tcG>tcA	p.S542S	WDR96_uc009xxq.3_5'Flank|WDR96_uc001kxx.4_Silent_p.S543S	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	542										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTTCTGGAAGCGAGGAAAGCA	0.463000														76			21		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425296	52425296	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52425296C>T	uc011bef.2	+	61	10104	c.9843C>T	c.(9841-9843)aaC>aaT	p.N3281N	DNAH1_uc003ddv.3_Silent_p.N139N	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3346	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTGGAGAACGTGGGCGAGG	0.607000														36			12		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53086349	53086349	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53086349G>T	uc010ydn.2	+	4	1298	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF701_uc002pzs.2_Missense_Mutation_p.R346I|ZNF701_uc021uyw.1_Missense_Mutation_p.R412I	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C412W(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGACATAGGAGAATTCACACT	0.408000														150			38		5.04308e-16	5.99817e-16	1	1	0
PRKAB1	5564	broad.mit.edu	37	12	120114475	120114475	+	Splice_Site	SNP	C	T	T	rs146667625		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120114475C>T	uc009zwu.3	+	6	769	c.666_splice	c.e6+1	p.S222_splice	PRKAB1_uc001txg.3_Splice_Site_p.S222_splice	NM_006253	NP_006244	Q9Y478	AAKB1_HUMAN	Homo sapiens protein kinase, AMP-activated, beta 1 non-catalytic subunit (PRKAB1), mRNA.	222					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CGGGGATTTCCGTAAGTATGT	0.572000														65			28		0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43702773	43702773	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43702773G>T	uc003joe.3	+	20	3301	c.3046G>T	c.(3046-3048)Gct>Tct	p.A1016S	NNT_uc003jof.3_Missense_Mutation_p.A1016S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1016					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TAATTCAGCAGCTCAAGAAGA	0.343000														62			15		6.31663e-08	6.86475e-08	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77407411	77407411	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77407411G>A	uc021sqy.1	-	7	4904	c.4328C>T	c.(4327-4329)tCc>tTc	p.S1443F		NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	1443	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTCTTTCTGGGATGATGCTGC	0.498000														250			52		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148742307	148742307	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148742307C>T	uc003lqk.2	+	1	258	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	PCYOX1L_uc003lql.2_Missense_Mutation_p.R49C|PCYOX1L_uc010jgz.2_Missense_Mutation_p.R49C|PCYOX1L_uc003lqm.2_5'UTR|PCYOX1L_uc003lqn.2_5'UTR	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	66					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGGTGGCCGCTTGGCCAC	0.612000														273			25		0	0	1	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111706086	111706086	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111706086T>C	uc004bdo.1	-	16	1994	c.1952A>G	c.(1951-1953)gAt>gGt	p.D651G	CTNNAL1_uc010mts.1_Missense_Mutation_p.D303G|CTNNAL1_uc004bdp.1_Missense_Mutation_p.D651G	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA.	651					Rho protein signal transduction|cell adhesion	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		AAGCTTGTCATCGTCTTTCAG	0.353000														98			15		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	250375	250375	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:250375C>T	uc001qhw.2	+	4	2077	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	IQSEC3_uc001qhu.1_Nonsense_Mutation_p.R390*|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.	693	SEC7.				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)		CCTCCTCCAGCGAAAGGGCCT	0.612000														187			17		0	0	1	0	0
LDB3	11155	broad.mit.edu	37	10	88452318	88452318	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88452318C>T	uc001kdv.3	+	5	909	c.886C>T	c.(886-888)Cga>Tga	p.R296*	LDB3_uc010qml.1_Nonsense_Mutation_p.R296*|LDB3_uc010qmm.2_Nonsense_Mutation_p.R364*|LDB3_uc009xsz.3_Intron|LDB3_uc001kdu.3_Nonsense_Mutation_p.R249*|LDB3_uc001kdr.3_Nonsense_Mutation_p.R249*|LDB3_uc001kdt.3_Non-coding_Transcript|LDB3_uc009xsy.3_Nonsense_Mutation_p.R364*|LDB3_uc001kds.3_Nonsense_Mutation_p.R296*	NM_007078	NP_009009	O75112	LDB3_HUMAN	Homo sapiens LIM domain binding 3 (LDB3), transcript variant 1, mRNA.	296						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGAAGCTCTGCGAAGGTCAAG	0.607000														172			48		0	0	1	0	0
RPP40	10799	broad.mit.edu	37	6	5000852	5000852	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5000852T>C	uc003mwl.3	-	2	317	c.282A>G	c.(280-282)gcA>gcG	p.A94A	RPP40_uc003mwm.3_Intron	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	94					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TGTATGTTAGTGCATAGCAAG	0.299000														87			24		0	0	1	0	0
CTLA4	1493	broad.mit.edu	37	2	204737463	204737463	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204737463C>A	uc002vak.2	+	3	755	c.600C>A	c.(598-600)gtC>gtA	p.V200V	CTLA4_uc002val.2_Missense_Mutation_p.L164I|CTLA4_uc010fty.2_Missense_Mutation_p.L69I|CTLA4_uc010ftz.2_Non-coding_Transcript	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	200					B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	CAACAGGGGTCTATGTGAAAA	0.378000														87			7		0.000157383	0.000162836	1	1	0
KIAA2026	158358	broad.mit.edu	37	9	5920791	5920791	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5920791A>G	uc003zjq.4	-	7	5421	c.5205T>C	c.(5203-5205)tgT>tgC	p.C1735C	KIAA2026_uc010mht.3_Silent_p.C910C	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1735										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGATGTTAAACATTTAGGAG	0.423000														139			41		0	0	1	0	0
E2F6	1876	broad.mit.edu	37	2	11597324	11597324	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11597324T>C	uc002rbh.3	-	1	436	c.144A>G	c.(142-144)gtA>gtG	p.V48V	E2F6_uc002rbg.3_5'UTR|E2F6_uc002rbi.3_Intron|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_5'UTR|E2F6_uc002rbf.3_Silent_p.V16V|E2F6_uc002rbj.1_Non-coding_Transcript	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	48					negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		ACACATATTGTACATTATCTT	0.249000														36			14		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14489241	14489241	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489241G>A	uc010heg.3	+	4	815	c.516G>A	c.(514-516)atG>atA	p.M172I	SLC6A6_uc003byp.3_Missense_Mutation_p.M172I|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Missense_Mutation_p.M172I|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	172					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTCACTGCATGGAGGACACCA	0.562000														329			15		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871237	8871237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871237C>T	uc002qzc.2	-	29	5111	c.4929G>A	c.(4927-4929)atG>atA	p.M1643I	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.M1544I|KIDINS220_uc002qzb.2_Missense_Mutation_p.M497I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1643					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AACAAATGGACATCCGAGCTA	0.493000														125			28		0	0	1	0	0
MED10	84246	broad.mit.edu	37	5	6372625	6372625	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6372625C>T	uc003jdo.3	-	3	442	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_032286	NP_115662	Q9BTT4	MED10_HUMAN	Homo sapiens mediator complex subunit 10 (MED10), mRNA.	133					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1)	5						GTTAAGAAGGCGGGTGATCCT	0.522000														139			16		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54647751	54647751	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54647751C>T	uc002qdj.2	+	5	592	c.268C>T	c.(268-270)Cgg>Tgg	p.R90W	CNOT3_uc010yel.2_Missense_Mutation_p.R90W|CNOT3_uc002qdi.3_Missense_Mutation_p.R3W|CNOT3_uc002qdk.2_Missense_Mutation_p.R90W|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	90					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCAAATGGAACGGTTCAAAGT	0.557000														167			36		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150483559	150483559	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150483559C>A	uc001euv.3	+	5	873	c.674C>A	c.(673-675)tCc>tAc	p.S225Y	ECM1_uc010pcf.2_Missense_Mutation_p.S120Y|ECM1_uc010pce.2_Missense_Mutation_p.S127Y|ECM1_uc001eus.3_Missense_Mutation_p.S198Y|ECM1_uc001eut.3_Missense_Mutation_p.S198Y|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	198	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity	p.S225T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTACCACAGTCCAGCTACTCC	0.572000														542			41		8.16277e-20	9.93979e-20	1	1	0
SAP130	79595	broad.mit.edu	37	2	128699597	128699597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128699597G>A	uc010fmd.2	-	20	3367	c.3235C>T	c.(3235-3237)Cga>Tga	p.R1079*	SAP130_uc002tpn.2_Nonsense_Mutation_p.R804*|SAP130_uc002tpp.2_Nonsense_Mutation_p.R1044*	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	1044					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTCCTTTCGCTTCAATTTG	0.428000														119			30		0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88039849	88039849	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88039849G>T	uc002fkr.3	+	5	830	c.609G>T	c.(607-609)acG>acT	p.T203T	BANP_uc010vov.2_Silent_p.T178T|BANP_uc002fkq.3_Silent_p.T172T|BANP_uc002fks.4_Silent_p.T172T|BANP_uc002fkp.3_Silent_p.T172T|BANP_uc010vow.2_Silent_p.T211T|BANP_uc021tml.1_Silent_p.T211T|BANP_uc002fko.1_Silent_p.T108T	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	203	Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCAACGTCACGCTCATCACCC	0.582000														187			90		1.81764e-44	2.31513e-44	1	1	0
OLFML2A	169611	broad.mit.edu	37	9	127549269	127549269	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127549269G>T	uc004bov.3	+	1	219	c.106G>T	c.(106-108)Gac>Tac	p.D36Y	OLFML2A_uc010mwr.1_Missense_Mutation_p.D36Y	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	36										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						TGGGGACCTGGACCAGGTGAG	0.647000														279			70		1.49723e-40	1.90345e-40	1	1	0
C1S	716	broad.mit.edu	37	12	7169900	7169900	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7169900G>T	uc001qsj.3	+	5	846	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	C1S_uc001qsk.3_Nonsense_Mutation_p.E43*|C1S_uc001qsl.3_Nonsense_Mutation_p.E43*|C1S_uc009zfr.3_Intron|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	43	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTGGGACATAGAAGTTCCTGA	0.473000														135			26		8.24728e-16	9.79314e-16	1	1	0
DUSP10	11221	broad.mit.edu	37	1	221875948	221875948	+	Missense_Mutation	SNP	C	T	T	rs116590328	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:221875948C>T	uc001hmy.2	-	3	1492	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	DUSP10_uc001hmx.2_Missense_Mutation_p.V77I|DUSP10_uc001hmz.2_Missense_Mutation_p.V77I	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	419	Tyrosine-protein phosphatase.				JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		TAAGCGATGACGATGGTGGCG	0.488000														226			17		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728054	50728054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50728054G>A	uc003bkv.4	-	2	1053	c.960C>T	c.(958-960)caC>caT	p.H320H		NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	320	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCATCTTGGCGTGCACCTTGT	0.652000														169			41		0	0	1	0	0
PTPN4	5775	broad.mit.edu	37	2	120692377	120692377	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120692377C>T	uc002tmf.1	+	15	1968	c.1197_splice	c.e15-1	p.H399_splice	PTPN4_uc010flj.1_Splice_Site_p.H112_splice|PTPN4_uc010yyr.1_Splice_Site_p.H32_splice	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	399						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTTATTTAGTCGAAATTCTAC	0.368000														62			5		0	0	1	0	0
PHF11	51131	broad.mit.edu	37	13	50080886	50080886	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50080886T>G	uc001vdb.3	+	1	547	c.210T>G	c.(208-210)aaT>aaG	p.N70K	PHF11_uc010tgl.2_Missense_Mutation_p.N70K|PHF11_uc001vdc.3_Missense_Mutation_p.N31K|PHF11_uc001vdd.3_Non-coding_Transcript	NM_001040443	NP_001035534	Q9UIL8	PHF11_HUMAN	Homo sapiens PHD finger protein 11 (PHF11), transcript variant 1, mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|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;2.38e-09)		CTCATGAGAATTGTTTGGTAA	0.343000														42			5		0	0	1	0	0
FTCD	10841	broad.mit.edu	37	21	47571627	47571627	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47571627C>T	uc002zig.3	-	4	525	c.481G>A	c.(481-483)Gac>Aac	p.D161N	FTCD_uc002zif.3_Missense_Mutation_p.D161N|FTCD_uc002zih.3_Missense_Mutation_p.D161N|FTCD_uc010gqf.3_Missense_Mutation_p.D161N|FTCD_uc010gqg.1_Missense_Mutation_p.D30N			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	161	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGACCAAAGTCGGGCGCCCAG	0.652000														109			25		0	0	1	0	0
C4orf40	401137	broad.mit.edu	37	4	71024336	71024336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024336G>A	uc003hfa.4	+	3	440	c.367G>A	c.(367-369)Gca>Aca	p.A123T	C4orf40_uc003hfb.4_Missense_Mutation_p.A123T	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	123	Ala-rich.					extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGCAGCTGCAGCACCCGCTGC	0.577000														267			60		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101646207	101646207	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101646207G>T	uc001kqj.2	-	12	3560	c.3468C>A	c.(3466-3468)aaC>aaA	p.N1156K	DNMBP_uc010qpl.1_Missense_Mutation_p.N92K|DNMBP_uc001kqg.2_Missense_Mutation_p.N444K|DNMBP_uc001kqh.2_Missense_Mutation_p.N788K	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1156	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGGCCTCATAGTTGTTCCGGG	0.552000														202			54		3.40343e-31	4.29119e-31	1	1	0
C20orf152	140894	broad.mit.edu	37	20	34582960	34582960	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34582960G>A	uc002xer.1	+	8	1012	c.856_splice	c.e8-1	p.G286_splice	C20orf152_uc002xes.1_Splice_Site_p.G286_splice|C20orf152_uc010gfp.1_Splice_Site	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	286										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CTGTGTTCAGGGCAGCTGTGA	0.517000											OREG0025897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		110			17		0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158913768	158913768	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158913768G>T	uc001ftb.3	+	6	1441	c.1191_splice	c.e6+1	p.Q397_splice	PYHIN1_uc001ftc.3_Splice_Site_p.Q388_splice|PYHIN1_uc001ftd.3_Splice_Site_p.Q397_splice|PYHIN1_uc001fte.3_Splice_Site_p.Q388_splice	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	397	HIN-200.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GTTTCATCCAGGTGAGAAATA	0.338000														52			15		1.5739e-10	1.77479e-10	1	1	0
TLR1	7096	broad.mit.edu	37	4	38800423	38800423	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:38800423G>T	uc003gtl.3	-	3	304	c.30C>A	c.(28-30)atC>atA	p.I10I	TLR1_uc021xnn.1_Silent_p.I10I	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	10					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTAACATGAAGATAATGGCAA	0.343000														43			5		4.096e-09	4.53438e-09	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238245116	238245116	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238245116G>A	uc002vwl.2	-	39	8912	c.8627C>T	c.(8626-8628)cCg>cTg	p.P2876L	COL6A3_uc002vwo.2_Missense_Mutation_p.P2670L|COL6A3_uc010znj.1_Missense_Mutation_p.P2269L|COL6A3_uc002vwj.2_Missense_Mutation_p.P257L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2876	Nonhelical region.|Thr-rich.				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)		CGTAGTCACCGGCTTCGTTGT	0.448000														360			74		0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	107973466	107973466	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:107973466G>A	uc001dvh.4	+	5	1900	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Intron|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Intron|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Intron|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	394	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CTAGAGGGCAGCACTGTGAGT	0.443000														51			4		0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50098142	50098142	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50098142T>C	uc002poo.4	+	3	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	596	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGGGCTCCTGTCCCCTCATGA	0.682000														46			14		0	0	1	0	0
C15orf44	81556	broad.mit.edu	37	15	65892120	65892120	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65892120A>G	uc010uix.2	-	3	974	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L	C15orf44_uc002apd.3_Silent_p.L160L|C15orf44_uc010uja.2_Silent_p.L143L|C15orf44_uc010ujb.2_Silent_p.L103L|C15orf44_uc002ape.4_Silent_p.L160L|C15orf44_uc010uiy.2_Silent_p.L81L|C15orf44_uc010uiz.2_Silent_p.L124L|C15orf44_uc010ujc.2_Silent_p.L192L			Q96SY0	CO044_HUMAN	Homo sapiens chromosome 15 open reading frame 44 (C15orf44), transcript variant 3, non-coding RNA.	160	VWFA.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ACCTCCTCCAAATTCGCCATG	0.358000														91			12		0	0	1	0	0
PCDH7	5099	broad.mit.edu	37	4	30725148	30725148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:30725148C>T	uc003gsk.1	+	0	3112	c.2104C>T	c.(2104-2106)Cgg>Tgg	p.R702W	PCDH7_uc011bxx.2_Missense_Mutation_p.R702W|PCDH7_uc021xnd.1_Missense_Mutation_p.R702W|PCDH7_uc021xnc.1_Missense_Mutation_p.R702W	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	702	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GTCTTTTGACCGGGAACATCA	0.468000														211			51		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211454881	211454881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211454881G>A	uc010fur.3	+	8	863	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CPS1_uc002vee.4_Missense_Mutation_p.E255K	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	255	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CACCAAGATGGAGTATGATGG	0.443000														349			108		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40697802	40697802	+	Missense_Mutation	SNP	G	A	A	rs143710836		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40697802G>A	uc001rmg.4	+	26	3764	c.3643G>A	c.(3643-3645)Gca>Aca	p.A1215T	LRRK2_uc001rmh.1_Missense_Mutation_p.A837T|LRRK2_uc009zjw.3_Missense_Mutation_p.A53T|LRRK2_uc001rmi.3_Missense_Mutation_p.A48T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1215					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCAGGTCCCGCACACTGGAA	0.368000														77			16		0	0	1	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21547044	21547044	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21547044C>A	uc001vzp.3	+	11	2276	c.2247_splice	c.e11-1	p.K749_splice	ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Splice_Site|ARHGEF40_uc010tln.2_Splice_Site_p.K35_splice	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	749					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CTTCCCAAGGCTGGAGGGCCA	0.552000														103			18		1.2644e-06	1.3491e-06	1	1	0
GNAI1	2770	broad.mit.edu	37	7	79842159	79842159	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:79842159T>A	uc003uhb.1	+	6	1185	c.848T>A	c.(847-849)cTc>cAc	p.L283H	GNAI1_uc011kgt.1_Missense_Mutation_p.L231H	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	283					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						AAGAGCCCTCTCACTATATGC	0.333000														66			21		0	0	1	0	0
RPS6KB2	6199	broad.mit.edu	37	11	67196455	67196455	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67196455C>T	uc001old.3	+	1	163	c.81C>T	c.(79-81)gaC>gaT	p.D27D		NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 70kDa, polypeptide 2 (RPS6KB2), mRNA.	27					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTCACAGGACGCATGTCCCC	0.627000														133			20		0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234085994	234085994	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234085994T>C	uc010zmo.2	+	17	2137	c.1984_splice	c.e17+2	p.G662_splice	INPP5D_uc010zmp.2_Splice_Site_p.G661_splice	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	691					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		AGTCTTATGGTGAGTTCAAAC	0.488000														124			31		0	0	1	0	0
PKP4	8502	broad.mit.edu	37	2	159535158	159535158	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:159535158C>T	uc002tzv.3	+	20	3582	c.3322C>T	c.(3322-3324)Cgg>Tgg	p.R1108W	PKP4_uc002tzw.3_Missense_Mutation_p.R1065W|PKP4_uc002tzx.3_Missense_Mutation_p.R765W|PKP4_uc002uaa.3_Missense_Mutation_p.R917W|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Missense_Mutation_p.R289W	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1108					cell adhesion	desmosome	protein binding	p.R1108Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ACAAAATAGACGGCTACAGGT	0.403000										HNSCC(62;0.18)				100			30		0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200137033	200137033	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200137033G>A	uc002uuy.2	-	10	2920	c.2103C>T	c.(2101-2103)aaC>aaT	p.N701N	SATB2_uc010fsq.2_Silent_p.N583N|SATB2_uc002uva.2_Silent_p.N701N|SATB2_uc002uuz.2_Silent_p.N701N	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	701						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCTCGCTGTCGTTCTCCTCTG	0.552000														161			49		0	0	1	0	0
RDH10	157506	broad.mit.edu	37	8	74209428	74209428	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:74209428G>A	uc003xzi.3	+	2	978	c.290_splice	c.e2-1	p.A97_splice	RDH10_uc003xzj.3_5'UTR	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Homo sapiens retinol dehydrogenase 10 (all-trans) (RDH10), mRNA.	97					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	NADP-retinol dehydrogenase activity|binding|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			TCTGAGGACAGCTGGGAATGG	0.478000														57			16		0	0	1	0	0
C8orf46	254778	broad.mit.edu	37	8	67405895	67405895	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67405895G>T	uc003xwg.3	+	0	405	c.12G>T	c.(10-12)caG>caT	p.Q4H	C8orf46_uc003xwh.3_Non-coding_Transcript|C8orf46_uc011let.2_Missense_Mutation_p.Q4H	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	Homo sapiens chromosome 8 open reading frame 46 (C8orf46), mRNA.	4										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGATGCATCAGATTTACAGCT	0.512000														95			22		1.10513e-12	1.27896e-12	1	1	0
DGKD	8527	broad.mit.edu	37	2	234299129	234299129	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234299129G>A	uc002vui.1	+	3	360	c.348_splice	c.e3+1	p.T116_splice	DGKD_uc002vuj.1_Splice_Site_p.T72_splice	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	116	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACAGTTTTACGGTAAGATTCC	0.398000														71			29		0	0	1	0	0
RNF170	81790	broad.mit.edu	37	8	42725169	42725169	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42725169G>T	uc003xpo.3	-	3	777	c.300C>A	c.(298-300)acC>acA	p.T100T	RNF170_uc011lcx.2_Silent_p.T100T|RNF170_uc003xpp.3_Missense_Mutation_p.P29Q|RNF170_uc003xpn.3_Missense_Mutation_p.P29Q|RNF170_uc010lxp.3_Silent_p.T16T|RNF170_uc003xpm.3_Silent_p.T100T|RNF170_uc003xpq.4_Silent_p.T100T	NM_001160223	NP_001153697	Q96K19	RN170_HUMAN	Homo sapiens ring finger protein 170 (RNF170), transcript variant 1, mRNA.	100						integral to membrane	zinc ion binding			lung(3)	3	all_lung(13;1.25e-11)|Lung NSC(13;3.55e-10)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00645)|Lung NSC(58;0.0176)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GTCCACAGTTGGTCTCCACCG	0.483000														41			12		3.07112e-06	3.25591e-06	1	1	0
CDK15	65061	broad.mit.edu	37	2	202744820	202744820	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202744820C>A	uc002uyt.2	+	11	1177	c.1128C>A	c.(1126-1128)gtC>gtA	p.V376V	CDK15_uc002uys.2_Silent_p.V325V|CDK15_uc010ftn.1_Silent_p.V325V|CDK15_uc002uyu.1_Non-coding_Transcript	NM_139158	NP_631897	Q96Q40	CDK15_HUMAN	Homo sapiens cyclin-dependent kinase 15 (CDK15), mRNA.	376	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GAGACCGCGTCTCCGCCCAGG	0.547000														95			25		8.24728e-16	9.79314e-16	1	1	0
REPIN1	29803	broad.mit.edu	37	7	150068918	150068918	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150068918G>T	uc010lpr.1	+	2	952	c.759G>T	c.(757-759)aaG>aaT	p.K253N	REPIN1_uc003whd.2_Missense_Mutation_p.K185N|REPIN1_uc010lpq.1_Missense_Mutation_p.K196N|REPIN1_uc003whc.2_Missense_Mutation_p.K196N|REPIN1_uc003whe.2_Missense_Mutation_p.K196N	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	196					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TTGCCCACAAGCGGGTGCACG	0.746000														55			5		1.23904e-05	1.3016e-05	1	1	0
CLPX	10845	broad.mit.edu	37	15	65448058	65448058	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65448058C>T	uc002aom.3	-	9	1355	c.1283G>A	c.(1282-1284)aGa>aAa	p.R428K	CLPX_uc010uiu.2_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	428					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						GCTGATGATTCTGTCTAAACC	0.398000														122			32		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100129317	100129317	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100129317A>C	uc010avs.3	+	5	1672	c.1607A>C	c.(1606-1608)aAc>aCc	p.N536T	HHIPL1_uc001ygl.1_Missense_Mutation_p.N536T	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	536					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CTCATCAACAACTACTACCCG	0.602000														128			21		0	0	1	0	0
USP53	54532	broad.mit.edu	37	4	120190845	120190845	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120190845G>A	uc003ics.4	+	14	2355	c.1289_splice	c.e14-1	p.A430_splice	USP53_uc003icr.4_Splice_Site_p.A430_splice|USP53_uc003icu.4_Splice_Site_p.A53_splice|USP53_uc003ict.3_Splice_Site_p.A53_splice	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	430					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTCTTTTACAGCTAAGTTAAG	0.259000														69			22		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083365	7083365	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083365C>T	uc002mga.3	+	7	1388	c.903C>T	c.(901-903)ttC>ttT	p.F301F	ZNF557_uc002mgb.3_Silent_p.F294F|ZNF557_uc002mgc.3_Silent_p.F301F	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAAAGGCTTTCGGCACGAGGT	0.483000														193			46		0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83411247	83411247	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83411247G>T	uc011ccj.1	-	6	713	c.598C>A	c.(598-600)Ctg>Atg	p.L200M	TMEM150C_uc003hmy.1_Missense_Mutation_p.L170M	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	170						integral to membrane				ovary(1)	1						GATGCCGACAGAATAACCCGT	0.453000														119			22		1.96292e-10	2.20843e-10	1	1	0
MLIP	90523	broad.mit.edu	37	6	54066908	54066908	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54066908G>T	uc011dxa.2	+	10	2628	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	MLIP_uc003pcf.2_Missense_Mutation_p.K854N|MLIP_uc003pcg.4_Missense_Mutation_p.K330N|MLIP_uc003pch.4_Missense_Mutation_p.K174N	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	330						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TGAAGACTAAGCCTGGAGTAA	0.308000														60			16		2.32078e-09	2.57599e-09	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62303437	62303437	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62303437C>T	uc001ntl.3	-	2	434	c.134G>A	c.(133-135)cGc>cAc	p.R45H	AHNAK_uc001ntk.1_Missense_Mutation_p.R45H	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	45	PDZ.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACCCCAGTGCGGGCCGCAGG	0.682000														137			7		0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12812936	12812936	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12812936G>A	uc002mup.3	-	19	3069	c.2607C>T	c.(2605-2607)taC>taT	p.Y869Y	TNPO2_uc002muq.3_Silent_p.Y777Y|TNPO2_uc002muo.3_Silent_p.Y787Y|TNPO2_uc002mur.3_Silent_p.Y777Y	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	787					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGGGCACACGTAGCCCAAGC	0.677000														82			19		0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73151260	73151260	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73151260G>T	uc003tzb.3	-	5	878	c.815_splice	c.e5+1	p.H272_splice	ABHD11_uc003tza.3_Splice_Site_p.H159_splice|ABHD11_uc011kfb.2_Splice_Site_p.H215_splice|ABHD11_uc003tzc.3_Splice_Site_p.H265_splice	NM_148912	NP_683710	Q8NFV4	ABHDB_HUMAN	Homo sapiens abhydrolase domain containing 11 (ABHD11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	272							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CTAGCTTACTGCACGAACTGG	0.612000														250			51		6.9144e-35	8.75249e-35	1	1	0
GABRA4	2557	broad.mit.edu	37	4	46930511	46930511	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46930511G>A	uc003gxg.3	-	8	2379	c.1396C>T	c.(1396-1398)Cga>Tga	p.R466*	GABRA4_uc021xnz.1_Nonsense_Mutation_p.R447*|GABRA4_uc021xoa.1_Nonsense_Mutation_p.R396*	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	466					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GAAGCCTTTCGAGGCATATAT	0.468000														159			19		0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50745198	50745198	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50745198G>A	uc002egm.1	+	3	1481	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	NOD2_uc021tia.1_Missense_Mutation_p.R291H|NOD2_uc010cbk.1_Missense_Mutation_p.R432H|NOD2_uc002egl.1_Missense_Mutation_p.R237H|NOD2_uc010cbl.1_Missense_Mutation_p.R237H|NOD2_uc010cbm.1_Missense_Mutation_p.R237H|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	459	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CTGAGGAAGCGCCATCATGAG	0.622000														291			32		0	0	1	0	0
ENPP4	22875	broad.mit.edu	37	6	46108086	46108086	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46108086G>T	uc003oxy.3	+	1	1025	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	256						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TTCCTGCATCGATCATTCATA	0.388000														103			6		0.0293803	0.0295844	1	1	0
GAK	2580	broad.mit.edu	37	4	887739	887739	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:887739G>A	uc003gbm.4	-	7	999	c.800C>T	c.(799-801)gCg>gTg	p.A267V	GAK_uc003gbn.4_Missense_Mutation_p.A188V|GAK_uc010ibk.1_Missense_Mutation_p.A161V|GAK_uc003gbl.4_Missense_Mutation_p.A131V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	267	Protein kinase.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TCGAAGTTTCGCTCCATCCTC	0.612000														58			24		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109811248	109811248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811248C>T	uc001dxa.4	+	17	6425	c.6364C>T	c.(6364-6366)Cgg>Tgg	p.R2122W		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2122					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCCAACAAGCGGCACTGGGA	0.652000														106			11		0	0	1	0	0
LY6E	4061	broad.mit.edu	37	8	144102804	144102804	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144102804C>T	uc003yxn.2	+	2	280	c.126C>T	c.(124-126)tcC>tcT	p.S42S	LOC100133669_uc011ljz.1_5'Flank|LOC100133669_uc003yxl.4_5'Flank|LY6E_uc003yxm.2_Silent_p.S42S|LY6E_uc003yxo.2_Non-coding_Transcript	NM_001127213	NP_002337	Q16553	LY6E_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus E (LY6E), transcript variant 2, mRNA.	42	UPAR/Ly6.				cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCATCTGCTCCGACCAGGACA	0.597000														148			9		0	0	1	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342258	94342258	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94342258G>A	uc001dqf.3	-	1	1291	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	DNTTIP2_uc010otm.2_Non-coding_Transcript|DNTTIP2_uc009wdo.2_Silent_p.D206D	NM_014597	NP_055412	Q5QJE6	TDIF2_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 2 (DNTTIP2), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CACTGTTCATGTCTTCACTGA	0.398000														200			63		0	0	1	0	0
DCDC2	51473	broad.mit.edu	37	6	24291177	24291177	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24291177C>T	uc003ndx.3	-	4	989	c.687G>A	c.(685-687)acG>acA	p.T229T	DCDC2_uc003ndy.3_Silent_p.T229T	NM_016356	NP_057440	Q9UHG0	DCDC2_HUMAN	Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA.	229					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GCCTTCTCATCGTTGACTTGT	0.413000														58			10		0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196541366	196541366	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196541366C>A	uc003fwy.4	+	10	1302	c.980C>A	c.(979-981)gCt>gAt	p.A327D		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	327	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		GAATACCTTGCTGGGGGGTCA	0.413000														179			38		2.51541e-25	3.13464e-25	1	1	0
ITFG1	81533	broad.mit.edu	37	16	47195737	47195737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47195737G>A	uc002eet.3	-	15	1644	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	ITFG1_uc010vgg.2_Nonsense_Mutation_p.R274*|ITFG1_uc010vgh.2_Nonsense_Mutation_p.R416*	NM_030790	NP_110417	Q8TB96	TIP_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 1 (ITFG1), mRNA.	529						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TCTTGTTTTCGTATAGACTGG	0.328000														110			25		0	0	1	0	0
SLC25A4	291	broad.mit.edu	37	4	186067969	186067969	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186067969C>T	uc003ixd.3	+	4	850	c.740_splice	c.e4-1	p.A247_splice		NM_001151	NP_001142	P12235	ADT1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 (SLC25A4), nuclear gene encoding mitochondrial protein, mRNA.	247					energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	TTTCCACAGCCGATATTATGT	0.473000														62			9		0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48604137	48604137	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48604137G>T	uc003gyh.1	-	13	1539	c.934_splice	c.e13-1	p.A312_splice	FRYL_uc003gyk.3_Splice_Site_p.A312_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGGATATAAAGCCTATAGGAG	0.303000														60			4		0.00024832	0.000256435	1	1	0
POTEE	445582	broad.mit.edu	37	2	131984434	131984434	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131984434A>C	uc002tsn.2	+	3	901	c.849A>C	c.(847-849)caA>caC	p.Q283H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	283							ATP binding										TACATGAGCAAAAACAGCAAG	0.323000														156			44		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251415	25251415	+	Missense_Mutation	SNP	C	T	T	rs146263630	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25251415C>T	uc002dod.4	-	6	3033	c.2626G>A	c.(2626-2628)Gcc>Acc	p.A876T	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.A672T	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	876					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CTCCGGTGGGCGCTGAAATGA	0.453000														112			31		0	0	1	0	0
CCNE1	898	broad.mit.edu	37	19	30312955	30312955	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30312955A>G	uc002nsn.3	+	8	941	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	CCNE1_uc002nso.3_Missense_Mutation_p.Y238C	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	253					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CTGAATGTATACATGCAGGTT	0.433000			A		serous ovarian									189			51		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187000170	187000170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187000170G>A	uc003iyq.3	+	2	719	c.618G>A	c.(616-618)tcG>tcA	p.S206S	TLR3_uc011ckz.2_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	206					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|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-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|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 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTGTCATCGAATCAAATTA	0.323000														25			5		0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6621780	6621780	+	Missense_Mutation	SNP	C	T	T	rs146302834		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6621780C>T	uc001med.3	-	5	1335	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	396					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATCCTCAAAGCGGCTGCTGAC	0.498000														65			13		0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133955529	133955529	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133955529C>T	uc001lkx.4	+	9	1579	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAGGGACGCTGGACGCAGA	0.657000														25			5		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193096461	193096461	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193096461C>A	uc011bsq.2	-	0	54	c.54G>T	c.(52-54)gaG>gaT	p.E18D		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	18					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAGTTCATCCTCCTCTCCCT	0.463000														175			45		1.22102e-19	1.48475e-19	1	1	0
LARS	51520	broad.mit.edu	37	5	145509704	145509704	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145509704G>A	uc003lnx.1	-	24	2743	c.2505C>T	c.(2503-2505)taC>taT	p.Y835Y	LARS_uc003lnw.1_5'UTR|LARS_uc011dbq.1_Silent_p.Y789Y|LARS_uc011dbr.1_Silent_p.Y781Y|LARS_uc011dbs.1_Silent_p.Y808Y	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	835					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCAATTCACGGTACTTATCTT	0.378000														109			25		0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164468186	164468186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:164468186G>A	uc002uck.1	-	2	467	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	52						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.Q51L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCGCCCAGGCGTACTGATAGG	0.507000														239			59		0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983282	97983282	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97983282C>A	uc003dsi.1	+	0	154	c.154C>A	c.(154-156)Ctc>Atc	p.L52I		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GGTAATATATCTCATCACCAT	0.403000														364			34		8.4185e-14	9.84907e-14	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64022436	64022436	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64022436A>G	uc009ypi.3	+	3	440	c.313A>G	c.(313-315)Acg>Gcg	p.T105A	PLCB3_uc009ypg.2_Missense_Mutation_p.T105A|PLCB3_uc009yph.2_Missense_Mutation_p.T38A	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	105					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GAAGCTGATGACGGTGGTGTC	0.612000														58			12		0	0	1	0	0
AKAP17A	8227	broad.mit.edu	37	X	1712941	1712941	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1712941C>T	uc004cqa.3	+	1	782	c.586C>T	c.(586-588)Cgg>Tgg	p.R196W	AKAP17A_uc010ncx.1_Missense_Mutation_p.R196W|AKAP17A_uc004cqb.3_Non-coding_Transcript|ASMT_uc004cqd.3_5'Flank	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	196	RRM.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						GGACCCCTACCGGGAGGAGAT	0.597000														235			55		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080507	42080507	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42080507G>A	uc002yyq.1	-	1	686	c.234C>T	c.(232-234)aaC>aaT	p.N78N	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	78	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522000														161			63		0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31263420	31263420	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:31263420C>T	uc002hhq.3	+	5	826	c.368C>T	c.(367-369)gCc>gTc	p.A123V	TMEM98_uc002hhr.3_Missense_Mutation_p.A123V	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	Homo sapiens transmembrane protein 98 (TMEM98), transcript variant 1, mRNA.	123						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AAGACTTCAGCCAGTGTCAGC	0.572000														126			29		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022171	18022171	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022171C>A	uc010gqw.1	+	14	2267	c.2267C>A	c.(2266-2268)gCt>gAt	p.A756D	CECR2_uc010gqv.1_Missense_Mutation_p.A617D|CECR2_uc002zml.2_Missense_Mutation_p.A617D	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	800					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACCATGGTGCTACGAACCAA	0.557000														93			19		1.67942e-08	1.84125e-08	1	1	0
FAM59A	64762	broad.mit.edu	37	18	29867839	29867839	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29867839C>T	uc002kxl.3	-	3	777	c.721G>A	c.(721-723)Gag>Aag	p.E241K	FAM59A_uc002kxk.2_Missense_Mutation_p.E241K	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	241	CABIT.									endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTGGTTTTCTCCACAATGTTG	0.527000														152			26		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543157	182543157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182543157C>T	uc021vto.1	-	0	431	c.431G>A	c.(430-432)cGc>cAc	p.R144H	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.R144H|NEUROD1_uc021vtn.1_Missense_Mutation_p.R144H	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	144	Helix-loop-helix motif.				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	p.R144L(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTTGGCCAAGCGCAGAGTCTC	0.567000														190			23		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845469	44845469	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44845469C>T	uc002xrm.2	-	3	1233	c.834G>A	c.(832-834)ccG>ccA	p.P278P	CDH22_uc010ghk.1_Silent_p.P278P|CDH22_uc002xrn.2_Silent_p.P29P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	278	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACTCACTCTGCGGGAAACGGG	0.612000														186			45		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124189745	124189745	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124189745C>A	uc010sah.2	-	0	349	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A117D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		TATTCCATGGCTGTCAGAAGG	0.408000														90			17		3.45872e-05	3.61362e-05	1	1	0
KIAA1841	84542	broad.mit.edu	37	2	61304140	61304140	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61304140A>G	uc002saw.4	+	5	820	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	KIAA1841_uc002sax.4_Missense_Mutation_p.M27V|KIAA1841_uc002say.3_Missense_Mutation_p.M173V|KIAA1841_uc002sav.4_Missense_Mutation_p.M173V	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	173										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATATCAGAAATGAAGTACTT	0.383000														116			23		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321314	233321314	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321314C>T	uc002vst.4	+	2	286	c.209C>T	c.(208-210)gCc>gTc	p.A70V	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	70					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ACGGTGACAGCCACCAGGATC	0.627000														68			14		0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86909588	86909588	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86909588C>A	uc001dlr.4	+	9	1769	c.1607C>A	c.(1606-1608)cCt>cAt	p.P536H		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	536					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		AGTGGTCCTCCTGAGATTATA	0.393000														105			36		1.06647e-15	1.26527e-15	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120575129	120575129	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120575129G>A	uc003yos.2	-	24	2631	c.2545C>T	c.(2545-2547)Cct>Tct	p.P849S	ENPP2_uc011lic.2_Missense_Mutation_p.P335S|ENPP2_uc003yor.2_Missense_Mutation_p.P432S|ENPP2_uc010mdd.2_Missense_Mutation_p.P822S|ENPP2_uc003yot.2_Missense_Mutation_p.P797S	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	797	Required for secretion (By similarity).				G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGCCGGTGAGGCAGGATGAAG	0.483000														100			17		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108281903	108281903	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108281903T>G	uc003kop.1	+	10	1693	c.1309T>G	c.(1309-1311)Tct>Gct	p.S437A	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Missense_Mutation_p.S262A	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	437					intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTCTCCAAAATCTGCACTGGG	0.378000														122			33		0	0	1	0	0
SH3D19	152503	broad.mit.edu	37	4	152069321	152069321	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:152069321G>T	uc010ipl.1	-	10	2085	c.995C>A	c.(994-996)aCc>aAc	p.T332N	SH3D19_uc003imb.2_Missense_Mutation_p.T110N|SH3D19_uc003imc.2_Missense_Mutation_p.T296N|SH3D19_uc003ime.2_Missense_Mutation_p.T332N|SH3D19_uc010ipm.2_Missense_Mutation_p.T332N	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	332	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	Golgi apparatus|cytosol|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AGTTGGAATGGTTTTTCCATT	0.438000														107			25		3.73148e-12	4.28986e-12	1	1	0
PTPRS	5802	broad.mit.edu	37	19	5208314	5208314	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5208314A>G	uc002mbv.3	-	35	5810	c.5576T>C	c.(5575-5577)tTc>tCc	p.F1859S	PTPRS_uc002mbu.1_Missense_Mutation_p.F1428S|PTPRS_uc010xin.2_Missense_Mutation_p.F1401S|PTPRS_uc002mbw.3_Missense_Mutation_p.F1821S|PTPRS_uc002mbx.3_Missense_Mutation_p.F1416S|PTPRS_uc002mby.3_Missense_Mutation_p.F1412S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1859	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTGGCCAATGAAGTCGATGAA	0.592000														109			18		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628044	46628044	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628044G>A	uc002inn.3	-	1	1348	c.948C>T	c.(946-948)ggC>ggT	p.G316G	HOXB3_uc010wlm.2_Silent_p.G243G|HOXB3_uc010dbf.3_Silent_p.G316G|HOXB3_uc010dbg.3_Silent_p.G316G|HOXB3_uc002ino.3_Silent_p.G316G|HOXB3_uc010wlk.2_Silent_p.G184G|HOXB3_uc010wll.2_Silent_p.G243G	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	316					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTGCGGGGCGCCGCAGCCTT	0.697000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		225			48		0	0	1	0	0
FARP1	10160	broad.mit.edu	37	13	99047599	99047599	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99047599C>A	uc001vnh.3	+	12	1522	c.1283C>A	c.(1282-1284)cCt>cAt	p.P428H	FARP1_uc001vnj.3_Missense_Mutation_p.P428H	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	428					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CACCCGAGCCCTGCGCCGAGG	0.672000														162			16		1.3612e-06	1.45125e-06	1	1	0
PYCR2	29920	broad.mit.edu	37	1	226074781	226074781	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226074781G>A	uc010pvj.2	-	7	1227	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	LEFTY1_uc001hpo.3_Silent_p.G249G			Q96C36	P5CR2_HUMAN	Homo sapiens left-right determination factor 1 (LEFTY1), mRNA.	0					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GGTCACAGTCGCCCTGAGCTC	0.607000														70			15		0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146144	42146144	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42146144G>A	uc003orx.3	+	3	973	c.328G>A	c.(328-330)Gat>Aat	p.D110N	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.D110N	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	110	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATTGACCGCGATGAGCTGCT	0.617000														238			52		0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3814267	3814267	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3814267G>A	uc002kmf.3	-	4	1491	c.964C>T	c.(964-966)Caa>Taa	p.Q322*	DLGAP1_uc010wyz.2_Nonsense_Mutation_p.Q322*|DLGAP1_uc010dkn.3_Nonsense_Mutation_p.Q20*|DLGAP1_uc002kme.2_Nonsense_Mutation_p.Q20*|DLGAP1_uc010wyw.2_Nonsense_Mutation_p.Q28*|DLGAP1_uc010wyx.2_Nonsense_Mutation_p.Q34*|DLGAP1_uc010wyy.2_Nonsense_Mutation_p.Q34*|DLGAP1_uc002kmg.3_Nonsense_Mutation_p.Q20*|DLGAP1_uc002kmk.2_Nonsense_Mutation_p.Q322*	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	322					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CATTCATCTTGTGGAACCTAT	0.353000														126			32		0	0	1	0	0
WNT8A	7478	broad.mit.edu	37	5	137424756	137424756	+	Missense_Mutation	SNP	C	A	A	rs62383479		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137424756C>A	uc011cyk.1	+	3	798	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	WNT8A_uc011cyj.1_Missense_Mutation_p.L188M|WNT8A_uc003lcd.1_Missense_Mutation_p.L170M			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	170					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCGGCAGACTGGTGGGTAT	0.488000														202			43		5.48756e-27	6.86996e-27	1	1	0
NFATC4	4776	broad.mit.edu	37	14	24839076	24839076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24839076G>A	uc001wpc.3	+	1	793	c.472G>A	c.(472-474)Gca>Aca	p.A158T	NFATC4_uc010alr.3_Missense_Mutation_p.A221T|NFATC4_uc010tok.2_Missense_Mutation_p.A221T|NFATC4_uc010tol.2_Missense_Mutation_p.A221T|NFATC4_uc010als.2_Missense_Mutation_p.A171T|NFATC4_uc010too.2_Missense_Mutation_p.A171T|NFATC4_uc010tom.2_Missense_Mutation_p.A171T|NFATC4_uc010ton.2_Missense_Mutation_p.A171T|NFATC4_uc010toq.2_Missense_Mutation_p.A190T|NFATC4_uc010alt.3_Missense_Mutation_p.A190T|NFATC4_uc010top.2_Missense_Mutation_p.A190T|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.A158T|NFATC4_uc010tos.2_Missense_Mutation_p.A88T|NFATC4_uc010tot.2_Missense_Mutation_p.A146T|NFATC4_uc010tou.2_Missense_Mutation_p.A88T|NFATC4_uc010tov.2_Missense_Mutation_p.A146T|NFATC4_uc010tow.2_Missense_Mutation_p.A88T|NFATC4_uc010alv.3_Missense_Mutation_p.A146T|NFATC4_uc010tox.2_Missense_Mutation_p.A88T|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	158	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTACAGAGAAGCAGGGGGCCA	0.667000														49			12		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6947173	6947173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6947173C>T	uc002knm.3	-	60	8927	c.8833G>A	c.(8833-8835)Gtg>Atg	p.V2945M	LAMA1_uc002knk.3_Missense_Mutation_p.V275M|LAMA1_uc002knl.3_Missense_Mutation_p.V398M|LAMA1_uc010wzj.2_Missense_Mutation_p.V2421M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2945	Laminin G-like 5.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCCGTCCACAAGCTCTAGT	0.522000														114			24		0	0	1	0	0
REG3G	130120	broad.mit.edu	37	2	79253879	79253879	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:79253879C>A	uc002snw.3	+	2	202	c.117C>A	c.(115-117)agC>agA	p.S39R	REG3G_uc002snx.3_Missense_Mutation_p.S39R|REG3G_uc010ffu.3_Missense_Mutation_p.S39R	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	39					acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CACGGATCAGCTGTCCCAAAG	0.527000														65			20		2.89027e-11	3.28353e-11	1	1	0
LOC338651	338651	broad.mit.edu	37	11	1619657	1619657	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1619657C>T	uc009ycx.1	+	1	1508	c.757C>T	c.(757-759)Cta>Tta	p.L253L	MOB2_uc001ltq.2_Intron|LOC338651_uc001ltt.1_Non-coding_Transcript|KRTAP5-2_uc001ltv.3_5'Flank					Homo sapiens uncharacterized LOC338651 (LOC338651), non-coding RNA.																		TTCCTCTTTGCTAGTGACTTC	0.403000														58			17		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85758135	85758135	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85758135T>G	uc003hpd.3	-	6	931	c.523A>C	c.(523-525)Aat>Cat	p.N175H	WDFY3_uc003hpf.3_Missense_Mutation_p.N175H	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	175						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTAGCTCATTCTGTGCACCT	0.453000														90			18		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654735	15654735	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654735C>T	uc001rcv.2	+	4	1313	c.843C>T	c.(841-843)tcC>tcT	p.S281S	PTPRO_uc001rcw.2_Silent_p.S281S|PTPRO_uc001rcu.2_Silent_p.S281S	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	281	Fibronectin type-III 3.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S280Y(2)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				ACATTTCTTCCGGTTGGCCTG	0.413000														70			17		0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232534934	232534934	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232534934G>A	uc001hvg.3	-	20	5266	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	SIPA1L2_uc001hvf.3_Missense_Mutation_p.A759V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1703					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)				CTGAGCTGTCGCGGTCTGGGA	0.517000														94			28		0	0	1	0	0
FHL2	2274	broad.mit.edu	37	2	105977891	105977891	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105977891C>T	uc002tcv.3	-	7	913	c.689_splice	c.e7-1	p.G230_splice	FHL2_uc002tdd.3_Splice_Site_p.G230_splice|FHL2_uc002tdc.3_Splice_Site_p.G116_splice|FHL2_uc002tct.3_Splice_Site_p.G116_splice|FHL2_uc002tcw.3_Splice_Site_p.G230_splice|FHL2_uc002tcx.3_Splice_Site_p.G230_splice|FHL2_uc002tcy.3_Splice_Site_p.G230_splice|FHL2_uc002tcz.3_Splice_Site_p.G340_splice|FHL2_uc002tda.3_Splice_Site|FHL2_uc002tdb.3_Splice_Site_p.G346_splice	NM_001039492	NP_963851	Q14192	FHL2_HUMAN	Homo sapiens four and a half LIM domains 2 (FHL2), transcript variant 5, mRNA.	230	LIM zinc-binding 4.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						GCCACCAAGTCCTGTTAACAG	0.443000														101			16		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561096	145561096	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145561096G>A	uc001eob.1	+	10	892	c.784_splice	c.e10-1	p.A262_splice	ANKRD35_uc010oyx.1_Splice_Site_p.A105_splice	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	262										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCCAACATAGGCCTCTCCATC	0.527000														57			16		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90024332	90024332	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024332G>T	uc001tbh.3	-	4	1059	c.878C>A	c.(877-879)gCt>gAt	p.A293D	ATP2B1_uc001tbg.3_Missense_Mutation_p.A293D	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	293					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ttcACCTCCAGCTCCAAGTAA	0.343000														62			11		0.00829132	0.00840732	1	1	0
RFX6	222546	broad.mit.edu	37	6	117248279	117248279	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117248279G>T	uc003pxm.3	+	16	2038	c.1975G>T	c.(1975-1977)Gga>Tga	p.G659*		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	659					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTAACCAAGGACCAATGGC	0.527000														229			38		1.4065e-29	1.76906e-29	1	1	0
SRPR	6734	broad.mit.edu	37	11	126133894	126133894	+	Missense_Mutation	SNP	C	T	T	rs149620514	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126133894C>T	uc001qdh.3	-	13	2012	c.1834G>A	c.(1834-1836)Gtc>Atc	p.V612I	SRPR_uc010sbm.2_Missense_Mutation_p.V584I	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	612					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCCACAAAGACGATGGGTTTG	0.537000														168			32		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895465	90895465	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895465T>C	uc003ula.3	+	0	1683	c.1270T>C	c.(1270-1272)Tcg>Ccg	p.S424P		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	424					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding	p.L423M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGTGATCCTGTCGCTCACCTG	0.607000														194			14		0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40803436	40803436	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40803436G>T	uc003ayu.1	+	12	1597	c.1388G>T	c.(1387-1389)aGc>aTc	p.S463I	SGSM3_uc011aos.1_Missense_Mutation_p.S396I|SGSM3_uc011aot.1_Missense_Mutation_p.S400I	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	463					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCAGACTATAGCATGGAGAGC	0.642000														125			28		1.88708e-17	2.26542e-17	1	1	0
TACC1	6867	broad.mit.edu	37	8	38677324	38677324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38677324C>T	uc010lwp.3	+	2	941	c.562C>T	c.(562-564)Cca>Tca	p.P188S	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.P143S|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Missense_Mutation_p.P204S|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.P188S|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	188	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TTCCAGCCCGCCAGACGCCCT	0.582000														176			43		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38600883	38600883	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38600883A>G	uc002ohk.3	+	7	2659	c.2150A>G	c.(2149-2151)cAc>cGc	p.H717R		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	717	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CGGAAGAGGCACATAGGAAAT	0.597000														246			12		0	0	1	0	0
GRIN1	2902	broad.mit.edu	37	9	140057086	140057086	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140057086G>A	uc004clk.3	+	13	2238	c.1908G>A	c.(1906-1908)tgG>tgA	p.W636*	GRIN1_uc004cli.1_Nonsense_Mutation_p.W311*|GRIN1_uc004clj.1_Nonsense_Mutation_p.W633*|GRIN1_uc004cln.3_Nonsense_Mutation_p.W657*|GRIN1_uc004clo.3_Nonsense_Mutation_p.W657*|GRIN1_uc004clm.3_Nonsense_Mutation_p.W636*|GRIN1_uc004cll.3_Nonsense_Mutation_p.W636*	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	636					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCATGGTGTGGGCCGGCTTTG	0.701000														61			12		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89346638	89346638	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89346638G>A	uc002fmx.1	-	8	6773	c.6312C>T	c.(6310-6312)gaC>gaT	p.D2104D	ANKRD11_uc002fmy.1_Silent_p.D2104D|ANKRD11_uc002fnc.1_Silent_p.D2104D|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.D2061D	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2104	Pro-rich.					nucleus		p.D2104D(2)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGCGGCTGCCGTCCAGGAAGC	0.726000														84			30		0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9089855	9089855	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9089855G>A	uc001qvd.3	+	12	2717	c.2561G>A	c.(2560-2562)cGc>cAc	p.R854H	PHC1_uc001qve.3_Missense_Mutation_p.R854H	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	854					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	p.R854H(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GCTCGCGTTCGCAGGCGTGGA	0.537000														61			17		0	0	1	0	0
PAX2	5076	broad.mit.edu	37	10	102509561	102509561	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102509561C>T	uc001krk.4	+	1	652	c.102C>T	c.(100-102)ccC>ccT	p.P34P	PAX2_uc001krm.4_Silent_p.P34P|PAX2_uc001krn.4_Silent_p.P34P|PAX2_uc001kro.4_Silent_p.P34P|PAX2_uc010qps.2_Silent_p.P33P|PAX2_uc001krl.4_Silent_p.P34P|PAX2_uc001krp.1_Silent_p.P38P	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	34	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		GGCCCCTACCCGACGTGGTGA	0.647000														149			32		0	0	1	0	0
DDX10	1662	broad.mit.edu	37	11	108709201	108709201	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108709201A>G	uc001pkm.3	+	13	2059	c.1994A>G	c.(1993-1995)aAg>aGg	p.K665R	DDX10_uc001pkl.1_Missense_Mutation_p.K665R	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	665							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TCCAGCATCAAGAAAAAAATG	0.323000			T	NUP98	AML*									80			25		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853245	29853245	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29853245C>T	uc002dui.3	+	9	1598	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Silent_p.F482F|MVP_uc010vea.2_Silent_p.F76F	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	482					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						GCGTGGTCTTCGGGCCTGAGC	0.677000														106			20		0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106694297	106694297	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106694297G>A	uc010fjf.3	+	3	470	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	121						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TACTACCAACGTCACTATGAT	0.453000														99			33		0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920006	58920006	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920006A>G	uc010rkp.2	+	4	1092	c.865A>G	c.(865-867)Acc>Gcc	p.T289A	FAM111A_uc010rkq.2_Missense_Mutation_p.T289A|FAM111A_uc010rkr.2_Missense_Mutation_p.T289A|FAM111A_uc001nno.3_Missense_Mutation_p.T289A|FAM111A_uc001nnp.3_Missense_Mutation_p.T289A|FAM111A_uc001nnq.3_Missense_Mutation_p.T289A	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	289					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				GAAAAGAAACACCTGTGTGTT	0.378000														90			15		0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750743	62750743	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62750743G>A	uc010wqc.2	-	8		c.1871C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		TACCAGTGACGATATTCCCTA	0.448000														207			34		0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143956537	143956537	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143956537G>A	uc010mey.3	-	9	1454	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	CYP11B1_uc010mex.3_Missense_Mutation_p.R111C|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R412C|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	412					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R412C(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGGGGTTGCGACCCAGAGAG	0.627000									Familial Hyperaldosteronism type I					177			41		0	0	1	0	0
C17orf51	339263	broad.mit.edu	37	17	21477615	21477615	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21477615G>A	uc002gyx.1	-	0		c.117C>T						A8MQB3	CQ051_HUMAN	Homo sapiens chromosome 17 open reading frame 51 (C17orf51), mRNA.											endometrium(1)	1						atccggagacgctcctgtgga	0.687000														37			7		0	0	1	0	0
IZUMO4	113177	broad.mit.edu	37	19	2098087	2098087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2098087G>A	uc002luw.1	+	4	511	c.434G>A	c.(433-435)tGc>tAc	p.C145Y	IZUMO4_uc002lux.1_Missense_Mutation_p.C145Y|IZUMO4_uc010xgw.1_Missense_Mutation_p.C145Y	NM_001039846	NP_001034935	Q1ZYL8	IZUM4_HUMAN	Homo sapiens IZUMO family member 4 (IZUMO4), transcript variant 3, mRNA.	145						extracellular region				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	6						TGCAACAACTGCACAGACTCG	0.637000														573			121		0	0	1	0	0
LRRC47	57470	broad.mit.edu	37	1	3699296	3699296	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3699296A>G	uc001akx.1	-	4	1370	c.1342T>C	c.(1342-1344)Tac>Cac	p.Y448H		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	448					translation		RNA binding|phenylalanine-tRNA ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		AGACACGGGTAATTTTCATTT	0.438000														120			24		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41741044	41741044	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41741044C>T	uc002yyq.1	-	3	1089	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	213	Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AAAAGTCTGGCGCTGTTGCTC	0.428000														87			19		0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42656018	42656018	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42656018C>A	uc011dur.2	+	44	5216	c.4918C>A	c.(4918-4920)Ctg>Atg	p.L1640M	UBR2_uc011dus.2_Missense_Mutation_p.L1285M|UBR2_uc003osh.3_Non-coding_Transcript|UBR2_uc011dut.2_Missense_Mutation_p.L228M|UBR2_uc011duu.2_Missense_Mutation_p.L32M	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1640					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			CGGATCTCTGCTGTGCTCCCA	0.537000														323			15		2.31682e-05	2.42268e-05	1	1	0
PPRC1	23082	broad.mit.edu	37	10	103900616	103900616	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103900616A>C	uc001kum.3	+	4	2390	c.2351A>C	c.(2350-2352)gAg>gCg	p.E784A	PPRC1_uc001kun.3_Missense_Mutation_p.E664A|PPRC1_uc010qqj.2_Missense_Mutation_p.E784A|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCCTTCCAGAGACTCCCACA	0.567000														158			45		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703596	48703596	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48703596G>A	uc002lfc.4	-	1	1466	c.1105C>T	c.(1105-1107)Cct>Tct	p.P369S		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	369	KH 2.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCAAAGACAGGTTCCTTATCT	0.443000														134			35		0	0	1	0	0
C1orf158	93190	broad.mit.edu	37	1	12819304	12819304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12819304G>A	uc001auh.3	+	2	503	c.287G>A	c.(286-288)aGc>aAc	p.S96N	C1orf158_uc010obe.1_Missense_Mutation_p.S96N	NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	96								p.I95M(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACCTGATCAGCACCTATGAC	0.562000														358			19		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6045573	6045573	+	Missense_Mutation	SNP	G	A	A	rs148270248		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6045573G>A	uc003spl.3	-	1	200	c.113C>T	c.(112-114)gCg>gTg	p.A38V	PMS2_uc003spj.3_5'Flank|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_Intron|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.A38V|PMS2_uc010ktf.2_Missense_Mutation_p.A38V	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	38					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.A38A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTCCTTTACCGCAGTGCTTAG	0.433000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					372			101		0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55103370	55103370	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55103370G>T	uc002lgo.3	+	0	454	c.422G>T	c.(421-423)gGc>gTc	p.G141V		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	141					organ morphogenesis	nucleus	sequence-specific DNA binding	p.G141G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCTCCGCCTGGCATGGGCATG	0.657000														59			14		3.27435e-08	3.57295e-08	1	1	0
GGT7	2686	broad.mit.edu	37	20	33447341	33447341	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33447341G>A	uc002xay.3	-	6	962	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	GGT7_uc002xaz.1_Missense_Mutation_p.R324W|GGT7_uc002xba.1_3'UTR	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	307					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						AGGTCGGGCCGATGCAGCAAC	0.662000														52			10		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51012062	51012062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51012062G>A	uc003bmm.3	-	9	1152	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G	CPT1B_uc003bmk.4_Silent_p.G351G|CPT1B_uc003bml.3_Silent_p.G351G|CPT1B_uc003bmo.3_Silent_p.G351G|CPT1B_uc011asa.2_Silent_p.G317G|CPT1B_uc003bmn.3_Silent_p.G351G|CPT1B_uc011asb.2_Silent_p.G351G|CPT1B_uc003bmp.3_Silent_p.G148G|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	351					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GCAGACGGGCGCCCTCATAGA	0.612000														112			13		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141259311	141259311	+	Missense_Mutation	SNP	C	A	A	rs139867739		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:141259311C>A	uc002tvj.1	-	54	9767	c.8795G>T	c.(8794-8796)aGt>aTt	p.S2932I		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2932	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			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)		GACTTTCTTACTCAAACATTC	0.403000										TSP Lung(27;0.18)				116			6		5.9392e-07	6.36579e-07	1	1	0
AGAP11	119385	broad.mit.edu	37	10	88768262	88768262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88768262C>T	uc001kee.2	+	11	1457	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	85					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CATTTGCAAGCAGTCCATGGG	0.547000														407			45		0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42672059	42672059	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42672059C>T	uc003clo.3	+	6	543	c.396C>T	c.(394-396)caC>caT	p.H132H	NKTR_uc003clm.1_5'UTR|NKTR_uc011azp.2_Silent_p.H22H|NKTR_uc003clp.3_5'UTR|NKTR_uc003clq.1_Silent_p.H22H|NKTR_uc003clr.1_5'UTR|NKTR_uc003cls.3_5'UTR	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	132	PPIase cyclophilin-type.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CTGCTCCACACCTGGATGGGT	0.453000														129			28		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	897557	897557	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:897557A>C	uc021zym.1	+	12	1507	c.1487A>C	c.(1486-1488)aAg>aCg	p.K496T	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Missense_Mutation_p.K393T|SUN1_uc003sjf.3_Missense_Mutation_p.K413T|SUN1_uc003sjg.3_Missense_Mutation_p.K401T|SUN1_uc011jvr.2_Missense_Mutation_p.K294T|SUN1_uc003sji.3_Missense_Mutation_p.K334T|SUN1_uc003sjk.3_Missense_Mutation_p.K135T	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	523					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGACACGTGAAGACCGGCTGT	0.478000														342			30		0	0	1	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936933	119936933	+	Missense_Mutation	SNP	G	A	A	rs145316984		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119936933G>A	uc003yon.4	-	4	1209	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	296	Death 2.				apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ATCAAGCTACGAAGCTGCTCG	0.463000														91			36		0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106016311	106016311	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:106016311T>G	uc004eml.3	+	1	903	c.653T>G	c.(652-654)aTt>aGt	p.I218S	RNF128_uc004emk.3_Missense_Mutation_p.I192S	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	218						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TTTTTTATTATTACGGCGGCA	0.408000														78			23		0	0	1	0	0
UNC5A	90249	broad.mit.edu	37	5	176304689	176304689	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176304689C>T	uc003mey.3	+	9	1812	c.1620C>T	c.(1618-1620)tgC>tgT	p.C540C		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	540	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGTCGTGCGAGGGCAGCT	0.672000														60			26		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158569911	158569911	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158569911C>T	uc003qrc.2	-	4	483	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	114					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	p.L113P(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AAATGGATTCCGCAGTATCTT	0.338000														51			10		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323365	152323365	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323365T>C	uc001ezw.4	-	2	6970	c.6897A>G	c.(6895-6897)ggA>ggG	p.G2299G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2299							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGTCTGTCCATGAGTAG	0.478000														434			85		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228559432	228559432	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228559432C>T	uc009xez.1	+	93	20997	c.20953C>T	c.(20953-20955)Ctg>Ttg	p.L6985L	OBSCN_uc001hsr.1_Silent_p.L1614L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6985	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCACAGCGACTGCCTTCAGC	0.692000														111			26		0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877516	10877516	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10877516C>T	uc003mzn.4	-	1	272	c.200G>A	c.(199-201)cGc>cAc	p.R67H	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	67					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	p.R67H(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GTTGGTGTTGCGCATGGCCCA	0.597000														142			29		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55349302	55349302	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55349302C>T	uc002qhm.1	+	2	388	c.342C>T	c.(340-342)ccC>ccT	p.P114P	KIR3DL2_uc010yfj.2_Silent_p.P107P|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.P114P|KIR3DL2_uc002qhn.1_Silent_p.P61P	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	209					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGTCAGCTCCCAGTGACCCTC	0.517000														502			101		0	0	1	0	0
UVRAG	7405	broad.mit.edu	37	11	75599929	75599929	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75599929T>C	uc001oxc.3	+	4	730	c.489T>C	c.(487-489)ggT>ggC	p.G163G	UVRAG_uc010rrw.2_Silent_p.G62G	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	163					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						GATACTATGGTGCTCCATTTG	0.353000														36			9		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654115	159654115	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654115C>A	uc010kjv.3	+	10	2771	c.2571C>A	c.(2569-2571)gcC>gcA	p.A857A	FNDC1_uc010kjw.1_Silent_p.A742A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	857						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCTCCCGAGCCCACCCCAGGG	0.622000														36			10		3.86212e-05	4.026e-05	1	1	0
MAP4K2	5871	broad.mit.edu	37	11	64568445	64568445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64568445C>T	uc001obh.3	-	8	681	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	MAP4K2_uc001obi.3_Missense_Mutation_p.V197I	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	197	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGGCCCAGACGTCACATAGC	0.637000														255			54		0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066450	23066450	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23066450T>C	uc002wsv.3	-	0	528	c.380A>G	c.(379-381)aAc>aGc	p.N127S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	127	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTGTGCCAGTTAGAGTAAGG	0.642000														48			13		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135743975	135743975	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743975C>A	uc002tue.1	-	6	2498	c.2467G>T	c.(2467-2469)Gac>Tac	p.D823Y	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.D710Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.D551Y|YSK4_uc002tui.4_Missense_Mutation_p.D840Y	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	823							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTAGAAATGTCTCTATCACCA	0.418000														114			13		9.31168e-06	9.81217e-06	1	1	0
THAP2	83591	broad.mit.edu	37	12	72070775	72070775	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72070775C>T	uc001swq.3	+	2	1187	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 2 (THAP2), mRNA.	192						nucleolus	DNA binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						ACACATGTTACCAACTGCCTT	0.378000														72			9		0	0	1	0	0
CENPT	80152	broad.mit.edu	37	16	67865777	67865777	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67865777G>T	uc002eun.4	-	7	952	c.403C>A	c.(403-405)Cct>Act	p.P135T	CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_Intron|CENPT_uc010vke.1_Missense_Mutation_p.P32T	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	135					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TCGAGCTCAGGAAGTTGCAGC	0.567000														33			9		0.000442599	0.000455268	1	1	0
MAP1S	55201	broad.mit.edu	37	19	17836832	17836832	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17836832C>T	uc002nhe.1	+	4	648	c.639C>T	c.(637-639)taC>taT	p.Y213Y	MAP1S_uc010eaz.2_5'UTR|MAP1S_uc010xpv.1_Silent_p.Y187Y	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	213	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCCTGGAGTACGTGGCTGAGT	0.701000														54			21		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119802151	119802151	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119802151C>T	uc004bjt.2	-	4	1318	c.1217G>A	c.(1216-1218)tGt>tAt	p.C406Y	ASTN2_uc022bml.1_Missense_Mutation_p.C106Y|ASTN2_uc022bmm.1_Missense_Mutation_p.C106Y	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	457						integral to membrane		p.C406C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AGTGAGTGGACAAGACATCTG	0.537000														46			10		0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69325509	69325509	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69325509C>T	uc002ars.2	+	4	788	c.747C>T	c.(745-747)caC>caT	p.H249H	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.H203H|NOX5_uc002arp.2_Silent_p.H231H|NOX5_uc010bid.2_Silent_p.H214H|NOX5_uc010bie.2_Silent_p.H49H|NOX5_uc002arr.2_Silent_p.H221H|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	249					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity	p.S248I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGGCCTCCACGTGCTGCTCT	0.731000														29			15		0	0	1	0	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567294	45567294	+	Silent	SNP	C	T	T	rs150166068	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45567294C>T	uc001rom.2	-	2	1392	c.855G>A	c.(853-855)gcG>gcA	p.A285A						Homo sapiens pleckstrin homology domain containing, family A member 8 pseudogene 1 (PLEKHA8P1), non-coding RNA.											breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGCTTCAGTCGCTGAGTTCC	0.438000														81			17		0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38048048	38048048	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38048048C>T	uc003chj.3	+	18	2600	c.2314C>T	c.(2314-2316)Cga>Tga	p.R772*	VILL_uc003chl.3_Nonsense_Mutation_p.R772*	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	772					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGATCTGGTGCGAAGCCCCAA	0.657000														193			9		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107589230	107589230	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107589230G>A	uc004bcl.3	-	16	2741	c.2337_splice	c.e16+1	p.A779_splice		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	779					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTACTCACAGCGAAGATCTT	0.517000														69			16		0	0	1	0	0
GSG1L	146395	broad.mit.edu	37	16	27856320	27856320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27856320C>T	uc002doz.2	-	3	698	c.613G>A	c.(613-615)Ggt>Agt	p.G205S	GSG1L_uc010bya.1_Missense_Mutation_p.G154S|GSG1L_uc010bxz.1_Missense_Mutation_p.G50S|GSG1L_uc002doy.2_Missense_Mutation_p.G50S	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	205						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						TCCTCAGGACCGAGGCTCACG	0.597000														42			9		0	0	1	0	0
PNISR	25957	broad.mit.edu	37	6	99852519	99852519	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99852519A>C	uc003ppo.4	-	8	1290	c.1062T>G	c.(1060-1062)atT>atG	p.I354M	PNISR_uc003ppp.4_Missense_Mutation_p.I354M|PNISR_uc011eag.2_Missense_Mutation_p.I354M	NM_032870	NP_116259	Q8TF01	PNISR_HUMAN	Homo sapiens PNN-interacting serine/arginine-rich protein (PNISR), transcript variant 1, mRNA.	354						nuclear speck				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTACGTAATAAATTTCTTCAT	0.338000														39			10		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53596231	53596231	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53596231G>A	uc003xre.4	-	4	805	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RB1CC1_uc003xrf.4_Missense_Mutation_p.R83C	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	83					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAGGTGGACGATCACATAAG	0.289000														53			13		0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78348322	78348322	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78348322C>T	uc002jyh.2	+	50	13297	c.13154C>T	c.(13153-13155)gCt>gTt	p.A4385V	RNF213_uc021uen.1_Missense_Mutation_p.A4336V|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAATACAAGGCTCTCCGTGAT	0.567000														151			8		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371565	81371565	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81371565C>T	uc009xry.3	+	2	111	c.29C>T	c.(28-30)gCg>gTg	p.A10V	SFTPA1_uc001kap.3_5'UTR|SFTPA1_uc001kar.3_5'UTR|SFTPA1_uc001kaq.3_5'UTR|SFTPA1_uc001kao.3_Missense_Mutation_p.A10V|SFTPA1_uc021puu.1_5'UTR|SFTPA1_uc010qlt.2_Intron|SFTPA1_uc009xrz.3_Missense_Mutation_p.A5V	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	0					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGAGCAGCGACTGGACCC	0.612000														348			20		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33615950	33615950	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33615950C>T	uc003jia.1	-	14	2534	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E706K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	791	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N790fs*12(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACAGACTCATTGGTGGGA	0.483000										HNSCC(64;0.19)				148			30		0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10261800	10261800	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10261800C>T	uc003jeq.3	+	7	1293	c.1122C>T	c.(1120-1122)atC>atT	p.I374I	CCT5_uc011cmq.2_Silent_p.I221I|CCT5_uc011cmr.2_Silent_p.I319I|CCT5_uc011cms.2_Silent_p.I336I|CCT5_uc011cmt.2_Silent_p.I281I	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	374					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TGCTGGTCATCGAGCAGTGTA	0.433000														237			58		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58286802	58286802	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58286802G>A	uc002iyo.1	-	21	2813	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	USP32_uc002iyn.1_Nonsense_Mutation_p.R513*	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	843					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCATGGACTCGATTAAGATCT	0.443000														86			16		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220348005	220348005	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220348005G>A	uc010fwg.3	+	29	5820	c.5820G>A	c.(5818-5820)caG>caA	p.Q1940Q		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1940					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCACTGCAGCCCGAGTTCT	0.662000														36			14		0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53573722	53573722	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53573722G>T	uc003xre.4	-	9	2036	c.1478C>A	c.(1477-1479)cCt>cAt	p.P493H	RB1CC1_uc003xrf.4_Missense_Mutation_p.P493H	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	493					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding	p.V492I(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GTACATCTGAGGAACTGTACT	0.373000														101			17		5.03518e-11	5.70985e-11	1	1	0
BAK1	578	broad.mit.edu	37	6	33541918	33541918	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33541918C>T	uc003oes.3	-	4	724	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	BAK1_uc003oer.3_Missense_Mutation_p.V72I|BAK1_uc003oet.3_Non-coding_Transcript|BAK1_uc010jvb.3_Missense_Mutation_p.V142I|BAK1_uc003oeu.3_Missense_Mutation_p.V83I	NM_001188	NP_001179	Q16611	BAK_HUMAN	Homo sapiens BCL2-antagonist/killer 1 (BAK1), mRNA.	142					activation of pro-apoptotic gene products|cellular response to UV|cellular response to mechanical stimulus|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						TGCTGGTAGACGTGTAGGGCC	0.597000														101			27		0	0	1	0	0
CTHRC1	115908	broad.mit.edu	37	8	104387965	104387965	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104387965G>A	uc003ylk.3	+	2	250	c.151_splice	c.e2-1	p.Y51_splice	CTHRC1_uc011lhq.1_Splice_Site_p.Y51_splice	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	51						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TCTCATTATAGTATAATGGAA	0.478000														209			44		0	0	1	0	0
AASDH	132949	broad.mit.edu	37	4	57215710	57215710	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57215710C>G	uc003hbn.3	-	10	2360	c.2207G>C	c.(2206-2208)tGt>tCt	p.C736S	AASDH_uc010ihb.3_Missense_Mutation_p.C251S|AASDH_uc003hbo.3_Missense_Mutation_p.C636S|AASDH_uc011caa.2_Missense_Mutation_p.C583S|AASDH_uc011cab.2_Missense_Mutation_p.C251S|AASDH_uc010ihc.3_Missense_Mutation_p.C736S|AASDH_uc003hbp.3_Missense_Mutation_p.C736S	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	736					fatty acid metabolic process		ATP binding|acid-thiol ligase activity|acyl carrier activity|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTTGCAACACAGGATGGATC	0.428000														169			10		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49749963	49749963	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49749963G>A	uc003cxh.3	+	26	2634	c.2548G>A	c.(2548-2550)Gag>Aag	p.E850K	RNF123_uc010hky.1_Missense_Mutation_p.E512K|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	850						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)		GCGGACCATTGAGCACGGTGA	0.582000														117			30		0	0	1	0	0
KRCC1	51315	broad.mit.edu	37	2	88328060	88328060	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88328060T>C	uc002sso.1	-	3	417	c.23A>G	c.(22-24)tAt>tGt	p.Y8C	KRCC1_uc002ssp.1_Missense_Mutation_p.Y8C|KRCC1_uc021vko.1_Missense_Mutation_p.Y8C	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	8										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						AAAAGAGTCATATGTCTTCTT	0.363000														59			11		0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063119	41063119	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41063119C>A	uc002ony.3	+	25	5566	c.5480C>A	c.(5479-5481)gCc>gAc	p.A1827D	SPTBN4_uc002onx.3_Missense_Mutation_p.A1827D|SPTBN4_uc002onz.3_Missense_Mutation_p.A1827D|SPTBN4_uc010egx.3_Missense_Mutation_p.A570D|SPTBN4_uc002ooa.3_Missense_Mutation_p.A503D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1827					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	p.A1827fs*12(1)		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)			GGCACACGGGCCCAGCTGCTG	0.647000														104			34		2.08457e-15	2.46654e-15	1	1	0
SCN3A	6328	broad.mit.edu	37	2	166019220	166019220	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166019220G>A	uc002ucx.3	-	7	1305	c.813C>T	c.(811-813)ggC>ggT	p.G271G	SCN3A_uc002ucy.3_Silent_p.G271G|SCN3A_uc002ucz.3_Silent_p.G271G|SCN3A_uc002uda.1_Silent_p.G140G|SCN3A_uc002udb.1_Silent_p.G140G	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	271						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCCTCAGATTGCCCATGAACA	0.473000														133			42		0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677675	37677675	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37677675G>T	uc002ofq.3	-	4	1016	c.764C>A	c.(763-765)tCc>tAc	p.S255Y	ZNF585B_uc002ofr.1_Missense_Mutation_p.S69Y	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTGAGTGTGGACTTTTGTGT	0.428000														176			36		3.76114e-14	4.41238e-14	1	1	0
NPY	4852	broad.mit.edu	37	7	24329150	24329150	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24329150T>G	uc003sww.2	+	2	309	c.221T>G	c.(220-222)aTt>aGt	p.I74S		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	74					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GAGACACTGATTTCAGACCTC	0.418000														92			16		0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166902391	166902391	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:166902391C>T	uc003qvd.1	-	11	1025	c.912G>A	c.(910-912)ccG>ccA	p.P304P	RPS6KA2_uc011ego.1_Silent_p.P190P|RPS6KA2_uc010kkl.1_Silent_p.P190P|RPS6KA2_uc003qvb.1_Silent_p.P279P|RPS6KA2_uc003qvc.1_Silent_p.P287P	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	279	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.P287P(1)|p.P279P(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGAGGAACTGCGGCATCCCCA	0.537000														66			15		0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923646	43923646	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:43923646C>T	uc010wka.2	+	0	1391	c.1374C>T	c.(1372-1374)taC>taT	p.Y458Y	MAPT-AS1_uc010wjz.2_Intron	NM_175882	NP_787078	Q8IUH8	IMP5_HUMAN	Homo sapiens intramembrane protease 5 (IMP5), mRNA.	458						integral to membrane	aspartic-type endopeptidase activity										TGGTTGCTTACTGTTGCCGCT	0.592000														188			45		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634136	32634136	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32634136T>C	uc003zrg.1	-	0	1532	c.1442A>G	c.(1441-1443)aAa>aGa	p.K481R	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	481					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)		GTACCAAGGTTTGTCATCATC	0.493000														213			34		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3673398	3673398	+	Missense_Mutation	SNP	G	A	A	rs150431597		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673398G>A	uc002wja.3	-	14	3800	c.3800C>T	c.(3799-3801)cCg>cTg	p.P1267L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.P1267L|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1267	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGCCTCCGGAGCCAGGAT	0.657000														112			39		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609239	29609239	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29609239G>T	uc001bru.3	+	11	2049	c.1920G>T	c.(1918-1920)gaG>gaT	p.E640D	PTPRU_uc009vtq.3_Missense_Mutation_p.E640D|PTPRU_uc009vtr.3_Missense_Mutation_p.E640D|PTPRU_uc001brw.3_Missense_Mutation_p.E640D	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	640	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCGGCGGGAGCCAGGTGGAC	0.677000														143			21		7.87624e-14	9.21814e-14	1	1	0
VHLL	391104	broad.mit.edu	37	1	156268967	156268967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156268967G>A	uc001fok.3	-	0	462	c.14C>T	c.(13-15)gCg>gTg	p.A5V		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCGTTCCCCGCTCTCCAGGG	0.602000														177			58		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604071	13604071	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13604071T>G	uc003gmz.1	-	9	4570	c.4453A>C	c.(4453-4455)Agt>Cgt	p.S1485R	BOD1L1_uc010idr.1_Missense_Mutation_p.S822R	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	1485							DNA binding										CTTCCAGCACTGGTGTCTACC	0.438000														44			14		0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182810240	182810240	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:182810240G>A	uc003fle.3	-	2	367	c.230C>T	c.(229-231)gCg>gTg	p.A77V	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Intron|MCCC1_uc003flf.3_Intron|MCCC1_uc003flg.3_Intron|MCCC1_uc011bqp.1_Intron|MCCC1_uc011bqq.1_Intron	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	77	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ACTATAAACCGCCACAGTCTG	0.423000														91			16		0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	672975	672975	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:672975T>G	uc010dka.1	+	6	1059	c.920T>G	c.(919-921)aTt>aGt	p.I307S	TYMS_uc010dkb.1_Missense_Mutation_p.I273S|TYMS_uc010dkc.1_Missense_Mutation_p.I224S|ENOSF1_uc010dkf.3_3'UTR|ENOSF1_uc002kku.4_3'UTR|ENOSF1_uc002kkt.4_3'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_3'UTR	NM_001071	NP_001062	P04818	TYSY_HUMAN	Homo sapiens thymidylate synthetase (TYMS), mRNA.	307					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CATCCAACTATTAAAATGGAA	0.418000														147			26		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2226885	2226885	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2226885G>A	uc002lvc.1	+	12	3014	c.2247G>A	c.(2245-2247)gcG>gcA	p.A749A	DOT1L_uc002lvb.4_Silent_p.A1455A	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1455						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGCGGCGTCCTCCGCCC	0.756000														57			21		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11630195	11630195	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11630195C>T	uc021zzo.1	-	3	1597	c.1345G>A	c.(1345-1347)Ggc>Agc	p.G449S	THSD7A_uc021zzn.1_Missense_Mutation_p.G449S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	449	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTCTGGTTGCCGCGCCTCTTG	0.557000										HNSCC(18;0.044)				69			12		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310195	178310195	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310195T>C	uc003mjl.3	+	4	968	c.742T>C	c.(742-744)Tta>Cta	p.L248L	ZNF354B_uc003mjm.3_Silent_p.L248L	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAAGAATGTTTAAAAGCTTT	0.343000														112			35		0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595443	152595443	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152595443C>T	uc010pdt.2	-	0	137	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	46					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCAGCAGCTGCGCTCGGA	0.657000														250			12		0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62599163	62599163	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:62599163G>A	uc010ihh.3	+	4	1259	c.1086G>A	c.(1084-1086)caG>caA	p.Q362Q	LPHN3_uc003hcq.4_Silent_p.Q362Q|LPHN3_uc010ihg.1_Silent_p.Q430Q|LPHN3_uc003hcs.1_Silent_p.Q191Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	362	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATTCATACCAGTACATTGCAG	0.393000														46			6		0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011019	30011019	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30011019C>A	uc001zcr.3	-	20	3802	c.3327G>T	c.(3325-3327)caG>caT	p.Q1109H	TJP1_uc010azl.3_Missense_Mutation_p.Q1097H|TJP1_uc001zcq.3_Missense_Mutation_p.Q1033H|TJP1_uc001zcs.3_Missense_Mutation_p.Q1029H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1109					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CTTGAGAGTGCTGATTATCAA	0.498000														227			48		5.78141e-17	6.91949e-17	1	1	0
PXDN	7837	broad.mit.edu	37	2	1651965	1651965	+	Missense_Mutation	SNP	T	G	G	rs13398588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1651965T>G	uc002qxa.3	-	16	3651	c.3587A>C	c.(3586-3588)gAg>gCg	p.E1196A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1196					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTCCCGGATCTCAGGGTTTTT	0.527000														371			72		0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827200	56827200	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56827200C>A	uc001slf.2	-	4	562	c.394G>T	c.(394-396)Gtc>Ttc	p.V132F	TIMELESS_uc001slg.2_Missense_Mutation_p.V132F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	132					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TCACTGAGGACTCCAAAAGCC	0.512000														123			23		2.21704e-12	2.55528e-12	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9164309	9164309	+	Silent	SNP	C	T	T	rs145302750	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9164309C>T	uc001mhl.3	-	20	3728	c.3471G>A	c.(3469-3471)tcG>tcA	p.S1157S	DENND5A_uc001mhk.3_Silent_p.S500S|DENND5A_uc010rbw.2_Silent_p.S1157S	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1157	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGAGCCGGGGCGATTTAAATC	0.512000														238			61		0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45360742	45360742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45360742G>A	uc002ilj.3	+	2	208	c.188G>A	c.(187-189)cGc>cAc	p.R63H	ITGB3_uc002ili.1_Missense_Mutation_p.R63H|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	63					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	GGCTCACCTCGCTGTGACCTG	0.572000														110			23		0	0	1	0	0
TEX13B	56156	broad.mit.edu	37	X	107224738	107224738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107224738C>T	uc004enn.1	-	2	604	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	171										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CCGGCAGTGGCCAGGCCTGGA	0.617000														347			47		0	0	1	0	0
RHBDF1	64285	broad.mit.edu	37	16	113124	113124	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:113124T>C	uc002cfl.4	-	4	662	c.519A>G	c.(517-519)gaA>gaG	p.E173E	RHBDF1_uc010uty.2_Silent_p.E196E|RHBDF1_uc010utz.2_Silent_p.E173E|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	173					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CACTCAGGCCTTCCGCAGTGT	0.682000														39			6		0	0	1	0	0
SPARCL1	8404	broad.mit.edu	37	4	88414858	88414858	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88414858C>T	uc010ikm.3	-	4	1666	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	SPARCL1_uc011cdc.2_Missense_Mutation_p.S240N|SPARCL1_uc003hqs.4_Missense_Mutation_p.S365N|SPARCL1_uc011cdd.2_Missense_Mutation_p.S240N	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	365					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AAAGGCCTGGCTTGGGATGAA	0.478000														109			28		0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282040	47282040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47282040G>A	uc009ylm.3	+	3	563	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	NR1H3_uc010rhk.2_Missense_Mutation_p.A111T|NR1H3_uc009yll.2_Missense_Mutation_p.A111T|NR1H3_uc001nek.3_Missense_Mutation_p.A60T|NR1H3_uc001nen.4_Missense_Mutation_p.A105T|NR1H3_uc001nem.3_Missense_Mutation_p.A105T	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	105					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGGGGACAAGGCCTCGGGCTT	0.582000														147			40		0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25463468	25463468	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25463468T>A	uc001upt.4	-	10	3540	c.3287A>T	c.(3286-3288)tAt>tTt	p.Y1096F	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Intron|CENPJ_uc001upu.3_Missense_Mutation_p.Y130F	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	1096					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CATTGGAAGATAATTTTTCTT	0.274000														91			18		0	0	1	0	0
ZFP106	64397	broad.mit.edu	37	15	42714807	42714807	+	Silent	SNP	G	A	A	rs138934970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42714807G>A	uc001zpw.3	-	14	5523	c.5196C>T	c.(5194-5196)ctC>ctT	p.L1732L	ZFP106_uc001zpu.3_Silent_p.L830L|ZFP106_uc001zpv.3_Silent_p.L917L|ZFP106_uc001zpx.3_Silent_p.L960L	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1732						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		AGATCCGCACGAGCTCACCAG	0.418000														68			14		0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70165302	70165302	+	Silent	SNP	C	T	T	rs148753961		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70165302C>T	uc002sfy.3	+	5	842	c.552C>T	c.(550-552)agC>agT	p.S184S	MXD1_uc010yqp.2_Silent_p.S183S|MXD1_uc010yqs.2_Silent_p.S174S|MXD1_uc010yqq.2_Silent_p.S121S|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_Non-coding_Transcript	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	184					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GCAGTGTGAGCGACTCTGACG	0.557000														153			42		0	0	1	0	0
SFMBT1	51460	broad.mit.edu	37	3	52955765	52955765	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52955765G>A	uc003dgf.3	-	11	1837	c.1214C>T	c.(1213-1215)aCc>aTc	p.T405I	SFMBT1_uc010hmr.3_Missense_Mutation_p.T352I|SFMBT1_uc003dgg.3_Missense_Mutation_p.T405I|SFMBT1_uc003dgh.3_Missense_Mutation_p.T405I	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	405					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TGCAGTGATGGTAGCAACACA	0.493000														272			71		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48922979	48922979	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48922979G>A	uc002pjc.4	+	8	2087	c.1999G>A	c.(1999-2001)Gtc>Atc	p.V667I	GRIN2D_uc010elx.3_5'UTR|Mir_324_uc021uwu.1_5'Flank	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	667						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CTTCTTCGCCGTCATCTTCCT	0.592000														309			28		0	0	1	0	0
PHYHIP	9796	broad.mit.edu	37	8	22079169	22079169	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22079169C>T	uc003xbk.4	-	5	1384	c.690G>A	c.(688-690)acG>acA	p.T230T	PHYHIP_uc003xbj.4_Silent_p.T230T	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	230										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		AGTGGTAGGCCGTGTACATGC	0.627000														71			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106815742	106815742	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106815742C>T	uc021ser.1	-	558		c.15985G>A								Parts of antibodies, mostly variable regions.																		TAATACACAGCCGTGTCCTCG	0.552000														148			62		0	0	1	0	0
WRNIP1	56897	broad.mit.edu	37	6	2784570	2784570	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2784570C>T	uc003mtz.3	+	5	1846	c.1655C>T	c.(1654-1656)cCg>cTg	p.P552L	WRNIP1_uc003mua.3_Missense_Mutation_p.P527L	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	552					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	p.D551N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CTGGCAGACCCGTCTGCGTTA	0.507000														35			18		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18024987	18024987	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18024987C>T	uc021trm.1	+	0	3092	c.2873C>T	c.(2872-2874)cCt>cTt	p.P958L	MYO15A_uc021trl.1_Missense_Mutation_p.P958L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	958	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCACCCCCTGTGCCGGAA	0.682000														62			9		0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288631	144288631	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:144288631G>A	uc003weq.3	-	6	489	c.386C>T	c.(385-387)gCt>gTt	p.A129V	TPK1_uc003weo.3_Intron|TPK1_uc003wep.3_Non-coding_Transcript|TPK1_uc003wer.3_Intron|TPK1_uc003wes.3_Non-coding_Transcript	NM_022445	NP_071890	Q9H3S4	TPK1_HUMAN	Homo sapiens thiamin pyrophosphokinase 1 (TPK1), transcript variant 1, mRNA.	129					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	AAAACGCCCAGCAAGGCCTCC	0.408000														95			21		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27729396	27729396	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27729396C>A	uc002rky.3	+	10	984	c.918C>A	c.(916-918)acC>acA	p.T306T	GCKR_uc010ezd.3_Silent_p.T306T|GCKR_uc010ylu.2_Silent_p.T116T	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	306					carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					ATCAGGTGACCTACAGCCAAA	0.532000														104			20		1.01871e-10	1.15017e-10	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9236904	9236904	+	Silent	SNP	G	A	A	rs143566600		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9236904G>A	uc010xkl.2	-	0	723	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGTGACCCGCAGATGGAAA	0.443000														184			9		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271741	1271741	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271741C>A	uc001aer.4	-	14	1841	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	DVL1_uc009vka.3_Missense_Mutation_p.Q281H|DVL1_uc002quu.3_Missense_Mutation_p.Q340H|DVL1_uc001aeu.1_3'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	623					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACGGCTGAGCTGGCCGGCCG	0.741000														44			10		1.58986e-06	1.69271e-06	1	1	0
KRBA2	124751	broad.mit.edu	37	17	8274848	8274848	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8274848G>T	uc002glf.1	-	0	11	c.5C>A	c.(4-6)cCt>cAt	p.P2H	KRBA2_uc002glg.1_Intron	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	2					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						CAGGAATGAAGGCATGCAGCA	0.483000														76			16		4.7546e-09	5.25358e-09	1	1	0
LRP1	4035	broad.mit.edu	37	12	57606279	57606279	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57606279G>A	uc001snd.3	+	88	14042	c.13576G>A	c.(13576-13578)Gag>Aag	p.E4526K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4526	Interaction with MAFB (By similarity).				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CAGCACGGACGAGAAGCGAGA	0.667000														132			25		0	0	1	0	0
ARRDC2	27106	broad.mit.edu	37	19	18119532	18119532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18119532C>T	uc002nhv.3	+	1	430	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ARRDC2_uc002nhu.3_Missense_Mutation_p.T91I	NM_015683	NP_056498	Q8TBH0	ARRD2_HUMAN	Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.	96										endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						ACCGGGGAGACCACGACGCTG	0.657000														191			39		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864303	144864303	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144864303C>A	uc021ouh.1	-	35	6094	c.5792G>T	c.(5791-5793)aGc>aTc	p.S1931I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S1931I|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1825I|PDE4DIP_uc001elv.4_Missense_Mutation_p.S938I|PDE4DIP_uc001ema.3_Missense_Mutation_p.S118I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1931					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCCCTCAGGCTTTCTGTTTC	0.537000			T	PDGFRB	MPD									280			26		1.66031e-10	1.87009e-10	1	1	0
PHC2	1912	broad.mit.edu	37	1	33797020	33797020	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33797020G>T	uc009vuh.1	-	11	2424	c.1935C>A	c.(1933-1935)ctC>ctA	p.L645L	PHC2_uc001bxg.1_Silent_p.L644L|PHC2_uc001bxh.1_Silent_p.L616L|PHC2_uc001bxe.1_Silent_p.L109L|PHC2_uc001bxf.1_Silent_p.L59L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	644					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCCGGCCACAGAGCTCACACT	0.527000														223			16		5.03518e-11	5.70985e-11	1	1	0
RPL3L	6123	broad.mit.edu	37	16	1997042	1997042	+	Missense_Mutation	SNP	C	T	T	rs149043671		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1997042C>T	uc002cnh.3	-	5	793	c.746G>A	c.(745-747)cGc>cAc	p.R249H	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	249					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GGCCACCTTGCGCAGGCCCTT	0.672000														278			14		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133900	57133900	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133900C>T	uc002qnm.4	+	2	1483	c.1245C>T	c.(1243-1245)tgC>tgT	p.C415C	ZNF71_uc021vcg.1_Silent_p.C415C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	415						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCGGCGAGTGCGGCAAGGCCT	0.632000														174			37		0	0	1	0	0
DRD1	1812	broad.mit.edu	37	5	174869427	174869427	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174869427G>A	uc003mcz.3	-	1	1621	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	DRD1_uc021yia.1_Missense_Mutation_p.R226W	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	226					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	GCAATGCGCCGTATTTGTTTC	0.493000														227			41		0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004464	75004464	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75004464C>T	uc004ecj.2	-	0	616	c.423G>A	c.(421-423)ggG>ggA	p.G141G		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	141	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						TCAGGTTCAACCCAAAGACCT	0.517000														54			15		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55517011	55517011	+	Missense_Mutation	SNP	G	A	A	rs112710941		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55517011G>A	uc002ehz.4	+	1	655	c.344G>A	c.(343-345)cGc>cAc	p.R115H	MMP2_uc010vhd.2_Missense_Mutation_p.R39H|MMP2_uc010ccc.3_Missense_Mutation_p.R65H	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	115	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TTCTTCCCTCGCAAGCCCAAG	0.602000														143			40		0	0	1	0	0
LSM4	25804	broad.mit.edu	37	19	18420644	18420644	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18420644C>T	uc002niq.3	-	3	343	c.172G>A	c.(172-174)Gag>Aag	p.E58K	LSM4_uc021uqn.1_Missense_Mutation_p.E44K	NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	Homo sapiens LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) (LSM4), transcript variant 1, mRNA.	58					RNA splicing|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing	U6 snRNP|cytosol	RNA binding|protein binding	p.E58K(2)		endometrium(1)|large_intestine(2)|lung(3)	6						ATGTAGCACTCGGGCATCCGC	0.667000														74			15		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71756349	71756349	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71756349C>T	uc003kce.1	-	1	1161	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCATGTGGCGCTTCAGGTGGC	0.657000														124			37		0	0	1	0	0
TMEM200B	399474	broad.mit.edu	37	1	29447499	29447499	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29447499C>T	uc021oki.1	-	0	842	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	TMEM200B_uc021okh.1_Missense_Mutation_p.R281Q|TMEM200B_uc001brn.2_Missense_Mutation_p.R281Q	NM_001171868	NP_001165339	Q69YZ2	T200B_HUMAN	Homo sapiens transmembrane protein 200B (TMEM200B), transcript variant 1, mRNA.	281						integral to membrane				ovary(1)	1		Colorectal(325;3.46e-05)|Breast(348;0.00765)|Lung NSC(340;0.0153)|all_lung(284;0.0173)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;7.32e-08)|COAD - Colon adenocarcinoma(152;4.92e-06)|STAD - Stomach adenocarcinoma(196;0.00618)|BRCA - Breast invasive adenocarcinoma(304;0.0501)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.126)		TGGCCAGCTTCGGTGAGCACA	0.642000														67			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724186	140724186	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140724186C>A	uc003ljm.2	+	0	586	c.586C>A	c.(586-588)Ctg>Atg	p.L196M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.L196M	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	196	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGCTGGTGCTGGAGCGGGC	0.542000														157			35		6.90743e-12	7.92012e-12	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7737765	7737765	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7737765C>A	uc001aoi.3	+	10	3093	c.2886C>A	c.(2884-2886)tcC>tcA	p.S962S	CAMTA1_uc010nzv.1_Silent_p.S49S|CAMTA1_uc001aok.4_5'Flank	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	962					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGCTCCCTTCCTCCCAGCACG	0.567000			T	WWTR1	epitheliod hemangioendothelioma									106			15		0.000308642	0.000318063	1	1	0
PRCP	5547	broad.mit.edu	37	11	82561517	82561517	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82561517C>A	uc001ozs.3	-	3	555	c.442G>T	c.(442-444)Gaa>Taa	p.E148*	PRCP_uc001ozr.3_Nonsense_Mutation_p.E169*	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	148					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGAGCTTGTTCTGATGTCAGG	0.408000														133			32		2.08457e-15	2.46654e-15	1	1	0
CNTROB	116840	broad.mit.edu	37	17	7846813	7846813	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7846813G>A	uc002gjp.3	+	10	2366	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	CNTROB_uc002gjq.3_Silent_p.R472R|CNTROB_uc002gjr.3_Silent_p.R374R|CNTROB_uc010vum.1_Silent_p.R184R	NM_001037144	NP_001032221	Q8N137	CNTRB_HUMAN	Homo sapiens centrobin, centrosomal BRCA2 interacting protein (CNTROB), transcript variant 2, mRNA.	472	Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCAGCCTACGGCAAGCAGCCT	0.622000														96			22		0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52825188	52825188	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52825188A>C	uc010ydl.2	+	4	755	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	ZNF480_uc002pyv.3_Missense_Mutation_p.K152Q|ZNF480_uc010ydm.2_Missense_Mutation_p.K186Q|ZNF480_uc010epn.3_Missense_Mutation_p.K60Q|AK097759_uc002pyw.1_Intron	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN	Homo sapiens zinc finger protein 480 (ZNF480), mRNA.	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TACTGTAGAGAAACCTTACAA	0.358000														71			14		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33572673	33572673	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33572673G>A	uc021qfs.1	+	3	2822	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	C11orf41_uc001mun.1_Missense_Mutation_p.E906K	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	900						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TGTGGTGATCGAAATGCTGGG	0.463000														125			67		0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88643732	88643732	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88643732C>T	uc010voz.2	+	1	401	c.201C>T	c.(199-201)tcC>tcT	p.S67S	ZC3H18_uc021tmm.1_Silent_p.S67S|ZC3H18_uc010voy.1_Silent_p.S67S|ZC3H18_uc002fky.3_Silent_p.S67S|ZC3H18_uc010vpa.1_Silent_p.S67S	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	67						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ATAATCACTCCGACGAGGAGG	0.632000														62			17		0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44270564	44270564	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44270564G>A	uc010jza.1	-	16	2342	c.2339C>T	c.(2338-2340)gCc>gTc	p.A780V	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	780					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CCCAGTGACGGCCAGCAGGCG	0.627000														68			15		0	0	1	0	0
GRIN2D	2906	broad.mit.edu	37	19	48945066	48945066	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48945066T>C	uc002pjc.4	+	10	2381	c.2293T>C	c.(2293-2295)Tac>Cac	p.Y765H	GRIN2D_uc010elx.3_5'UTR	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	765						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	AGTGCTCAATTACATGGCCCG	0.637000														94			28		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178858792	178858792	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178858792C>A	uc001glz.3	+	13	1546	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RALGPS2_uc010pnb.2_Missense_Mutation_p.S403Y	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	403					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGCGATGGTTCTGAACTAAGT	0.303000														101			35		4.92203e-23	6.08522e-23	1	1	0
KDM6B	23135	broad.mit.edu	37	17	7754506	7754506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7754506G>A	uc002gix.3	+	3	2584	c.1747G>A	c.(1747-1749)Gca>Aca	p.A583T	KDM6B_uc002giw.1_Missense_Mutation_p.A1281T	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1281	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TGCCAAGTACGCACAGTACCA	0.617000														158			13		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45483547	45483547	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45483547C>T	uc002zea.3	+	6	1088	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	TRAPPC10_uc010gpo.3_Missense_Mutation_p.R18C	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	307					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.R307C(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTAGATCTGCGCAGTTACCT	0.587000														150			29		0	0	1	0	0
TLE4	7091	broad.mit.edu	37	9	82335058	82335058	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:82335058C>T	uc004ald.3	+	16	2612	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TLE4_uc004alc.3_Missense_Mutation_p.A563V|TLE4_uc010mpr.3_Missense_Mutation_p.A442V|TLE4_uc004ale.3_Missense_Mutation_p.A200V|TLE4_uc011lsq.2_Missense_Mutation_p.A531V|TLE4_uc010mps.3_Missense_Mutation_p.A487V|TLE4_uc004alf.3_Missense_Mutation_p.A502V	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGGACCTGGCGGCTCCAACC	0.582000														105			18		0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730696	5730696	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5730696C>T	uc001mbr.3	+	7	1694	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.P267S|TRIM22_uc009yes.3_Missense_Mutation_p.P435S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	439	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TATGGCTGTGCCTCCCTGTCG	0.438000														195			9		0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854104	12854104	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12854104G>A	uc001auj.2	+	2	431	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	110								p.E110*(3)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGATGTTGACGAGAATTTCTG	0.532000														733			50		0	0	1	0	0
SGSM1	129049	broad.mit.edu	37	22	25255780	25255780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25255780C>T	uc003abg.2	+	8	1056	c.899C>T	c.(898-900)tCt>tTt	p.S300F	SGSM1_uc010guu.1_Missense_Mutation_p.S300F|SGSM1_uc003abh.2_Missense_Mutation_p.S300F|SGSM1_uc003abj.2_Missense_Mutation_p.S300F|SGSM1_uc003abi.1_Missense_Mutation_p.S275F|SGSM1_uc003abf.2_Missense_Mutation_p.S300F	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	300						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						ATGAACGGGTCTGTGGGGGAC	0.602000														234			41		0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131276458	131276458	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131276458C>T	uc003qch.2	-	3	675	c.493_splice	c.e3-1	p.P165_splice	EPB41L2_uc010kfl.2_Splice_Site_p.P165_splice|EPB41L2_uc003qcg.1_Splice_Site_p.P165_splice|EPB41L2_uc003qci.3_Splice_Site_p.P165_splice|EPB41L2_uc011eby.2_Splice_Site_p.P165_splice|EPB41L2_uc010kfk.2_Splice_Site_p.P165_splice	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	165					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTCAGTAGGCTGTTGAGGAA	0.358000														117			25		0	0	1	0	0
TRAPPC5	126003	broad.mit.edu	37	19	7747600	7747600	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7747600G>A	uc002mhi.1	+	1	531	c.461G>A	c.(460-462)aGc>aAc	p.S154N	TRAPPC5_uc002mhj.1_Missense_Mutation_p.S154N|TRAPPC5_uc002mhk.1_Missense_Mutation_p.S154N|TRAPPC5_uc021unw.1_Missense_Mutation_p.S154N	NM_001042462	NP_777554	Q8IUR0	TPPC5_HUMAN	Homo sapiens trafficking protein particle complex 5 (TRAPPC5), transcript variant 3, mRNA.	154					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CTCACACACAGCGGCTTCCCT	0.642000														62			9		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558420	140558420	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558420G>A	uc011dai.2	+	0	1050	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	269	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTGCCACGGATGTAGACAC	0.433000														532			59		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012086	161012086	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161012086G>T	uc003qtl.3	-	23	3797	c.3677C>A	c.(3676-3678)cCt>cAt	p.P1226H		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3734	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATAACACCAAGGACTAATCTC	0.478000														75			23		3.5997e-14	4.22413e-14	1	1	0
IFIH1	64135	broad.mit.edu	37	2	163174679	163174679	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163174679G>A	uc002uce.3	-	0	361	c.139C>T	c.(139-141)Cag>Tag	p.Q47*	IFIH1_uc002ucf.3_Nonsense_Mutation_p.Q47*	NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	47	CARD 1.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ACTGTCCTCTGAATCTGCTCC	0.562000														119			34		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123411611	123411611	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123411611G>A	uc003ego.3	-	18	3818	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	MYLK_uc011bjv.2_5'Flank|MYLK_uc011bjw.2_Missense_Mutation_p.A1179V|MYLK_uc003egp.3_Missense_Mutation_p.A1110V|MYLK_uc003egq.3_Missense_Mutation_p.A1179V|MYLK_uc003egr.3_Missense_Mutation_p.A1110V|MYLK_uc003egs.3_Missense_Mutation_p.A1003V|MYLK_uc003egt.3_Missense_Mutation_p.A370V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1179	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Ig-like C2-type 7.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGAGCACTCCGCCTGGCCAGC	0.602000														127			37		0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123302264	123302264	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123302264C>T	uc003ieo.3	+	3	522	c.290C>T	c.(289-291)cCt>cTt	p.P97L	ADAD1_uc003iep.3_Missense_Mutation_p.P97L|ADAD1_uc003ieq.3_Missense_Mutation_p.P79L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	97	DRBM.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GAGATAAATCCTGTGTCAGCC	0.368000														147			29		0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792041	792041	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:792041C>T	uc001lri.3	-	9	1230	c.846G>A	c.(844-846)tcG>tcA	p.S282S	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.3_Silent_p.S282S|SLC25A22_uc001lrj.3_Silent_p.S282S	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	282						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	TCAGGAAGGCCGAGGGGCCCT	0.697000														33			8		0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58512232	58512232	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58512232T>C	uc003dkl.3	-	9	1482	c.1307A>G	c.(1306-1308)tAc>tGc	p.Y436C		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	436					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCACCCTCGTAGGTACAGGA	0.602000														71			20		0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81862432	81862432	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81862432G>T	uc010tvu.2	-	1	377	c.179C>A	c.(178-180)tCt>tAt	p.S60Y	STON2_uc001xvk.1_Missense_Mutation_p.S60Y|STON2_uc010atc.1_Missense_Mutation_p.S60Y	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	60					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGTCTTGAGAGCCTCCATC	0.602000														134			16		6.31663e-08	6.86475e-08	1	1	0
DLK1	8788	broad.mit.edu	37	14	101200802	101200802	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101200802G>T	uc001yhs.4	+	4	925	c.721G>T	c.(721-723)Ggt>Tgt	p.G241C	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	241	EGF-like 6.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CGAGTTCACAGGTCTCACCTG	0.677000														196			53		3.4597e-24	4.29637e-24	1	1	0
HEATR3	55027	broad.mit.edu	37	16	50104168	50104168	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50104168C>T	uc002efw.3	+	3	641	c.479C>T	c.(478-480)gCc>gTc	p.A160V	HEATR3_uc021thv.1_Missense_Mutation_p.A74V|HEATR3_uc002efx.3_Missense_Mutation_p.A74V	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	160							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGAACATAGCCAATGAGACT	0.408000														81			12		0	0	1	0	0
RPE	6120	broad.mit.edu	37	2	210880820	210880820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210880820G>A	uc002vdn.3	+	2	360	c.326G>A	c.(325-327)cGg>cAg	p.R109Q	RPE_uc002vdo.3_Missense_Mutation_p.R41Q|RPE_uc002vdp.3_Missense_Mutation_p.R38Q|RPE_uc010zjf.2_Missense_Mutation_p.R109Q|RPE_uc010fup.3_Missense_Mutation_p.R41Q|RPE_uc002vdq.3_Missense_Mutation_p.R41Q|RPE_uc002vdr.3_Missense_Mutation_p.R41Q	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.	109					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity	p.R109W(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		AAAGACATTCGGGAGAATGGG	0.438000														74			26		0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062461	66062461	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66062461C>A	uc001ohl.3	+	1	856	c.744C>A	c.(742-744)ggC>ggA	p.G248G		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	248						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCAACGAGGGCCTGGACGACT	0.687000														34			12		0.010729	0.0108564	1	1	0
ATP8B1	5205	broad.mit.edu	37	18	55362414	55362414	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55362414A>G	uc002lgw.3	-	9	1049	c.929T>C	c.(928-930)gTc>gCc	p.V310A	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	310					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGCAAAAATGACTAAGCCGTG	0.388000														60			18		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112111375	112111375	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112111375T>C	uc003kpz.4	+	5	665	c.472T>C	c.(472-474)Tat>Cat	p.Y158H	APC_uc011cvt.2_Missense_Mutation_p.Y168H|APC_uc003kpy.4_Missense_Mutation_p.Y158H|APC_uc010jbz.3_5'UTR|U6_uc021ycj.1_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	158	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAAGACTGGTATTACGCTCA	0.289000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				91			14		0	0	1	0	0
DENND1C	79958	broad.mit.edu	37	19	6479048	6479048	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6479048C>T	uc002mfe.3	-	4	288	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.V22M	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	66	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.V66L(1)|p.V92L(1)		endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						AAATGCTGCACGGCGGGGCTG	0.632000														192			45		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121880000	121880000	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121880000G>T	uc001uat.3	-	18	3348	c.3244C>A	c.(3244-3246)Ctg>Atg	p.L1082M	KDM2B_uc010szy.2_Missense_Mutation_p.L522M|KDM2B_uc001uaq.3_Missense_Mutation_p.L522M|KDM2B_uc001uar.3_Missense_Mutation_p.L673M|KDM2B_uc001uas.3_Missense_Mutation_p.L1013M|KDM2B_uc021rfd.1_Missense_Mutation_p.L1013M|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.L1082M|KDM2B_uc001uao.3_Missense_Mutation_p.L330M|KDM2B_uc010szx.2_Missense_Mutation_p.L330M|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	1082	F-box.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CACACACACAGGTCTTGGTGG	0.662000														98			21		2.21704e-12	2.55528e-12	1	1	0
DPEP3	64180	broad.mit.edu	37	16	68011244	68011244	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68011244C>T	uc002evc.4	-	6	1116	c.1022G>A	c.(1021-1023)gGc>gAc	p.G341D	DPEP3_uc010cex.3_Missense_Mutation_p.G340D	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	316					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CATCACGATGCCACCGTTCTT	0.567000														59			19		0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99907721G>A	uc010yvo.2	-	5	642	c.312C>T	c.(310-312)ggC>ggT	p.G104G	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Silent_p.G104G	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	104					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						TAGTCCTATCGCCCATGTTGA	0.493000														114			40		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739056	40739056	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40739056G>A	uc002xkg.3	-	22	3355	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	PTPRT_uc010ggj.3_Silent_p.C1076C|PTPRT_uc010ggi.3_Silent_p.C260C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1057	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGTGGCATAGCAGGGAACGC	0.597000														146			22		0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533503	533503	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:533503C>T	uc001lpv.3	-	3	588	c.400G>A	c.(400-402)Gcc>Acc	p.A134T	HRAS_uc010qvw.2_Missense_Mutation_p.A134T|HRAS_uc010qvx.2_Missense_Mutation_p.A134T|HRAS_uc010qvy.2_Non-coding_Transcript	NM_005343	NP_005334	P01112	RASH_HUMAN	Homo sapiens v-Ha-ras Harvey rat sarcoma viral oncogene homolog (HRAS), transcript variant 1, mRNA.	134					Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|synaptic transmission	Golgi membrane|cytosol|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	p.A134S(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	TAGCTTCGGGCGAGGTCCTGA	0.662000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)				263			43		0	0	1	0	0
PLK4	10733	broad.mit.edu	37	4	128815033	128815033	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128815033C>A	uc003ifo.3	+	12	2833	c.2559C>A	c.(2557-2559)ccC>ccA	p.P853P	PLK4_uc011cgs.2_Silent_p.P821P|PLK4_uc011cgt.2_Silent_p.P812P	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	853					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						tccttaatccctctgtaagta	0.388000														75			13		5.50884e-06	5.8131e-06	1	1	0
FMR1NB	158521	broad.mit.edu	37	X	147063094	147063094	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147063094C>T	uc004fcm.3	+	0	246	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	58						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAGGATGGCGGGAATCTCT	0.557000														157			42		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49757969	49757969	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49757969C>A	uc003cxh.3	+	35	3612	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M	RNF123_uc003cxi.3_Non-coding_Transcript|AMIGO3_uc003cxj.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1176						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)		ATCAGTGCTCCTGGCAGATCC	0.597000														123			29		1.2476e-16	1.49007e-16	1	1	0
AK310665	0	broad.mit.edu	37	17	20332052	20332052	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20332052C>T	uc010cqz.3	+	2		c.572C>T								Homo sapiens cDNA, FLJ17707.																		AGGGCATATGCGGTGGGGGCA	0.527000														98			7		0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23020059	23020059	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:23020059T>G	uc004daj.3	+	0	1982	c.1885T>G	c.(1885-1887)Ttt>Gtt	p.F629V		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	629						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GGAGTTTTATTTTTTAAGTTG	0.358000														36			11		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039892	80039892	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039892G>A	uc002kdu.3	-	35	6273	c.6156C>T	c.(6154-6156)ggC>ggT	p.G2052G	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2052	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CACCTGGGAGGCCTTCGTGCC	0.677000														82			21		0	0	1	0	0
WIPF2	147179	broad.mit.edu	37	17	38412732	38412732	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38412732G>A	uc002hug.1	+	1	261	c.21G>A	c.(19-21)ccG>ccA	p.P7P	WIPF2_uc010cwv.1_Silent_p.P7P|WIPF2_uc002huh.1_5'UTR|WIPF2_uc010cww.1_Intron|WIPF2_uc002hui.1_Silent_p.P7P|WIPF2_uc010cwx.1_Silent_p.P7P|WIPF2_uc010cwy.1_Silent_p.P7P	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 2 (WIPF2), mRNA.	7	Poly-Pro.					cytoplasm|cytoskeleton	actin binding	p.P7L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CTCCTCCCCCGCCACCCCCAC	0.488000										HNSCC(43;0.11)				114			17		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64019960	64019960	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:64019960C>T	uc002amp.3	-	16	3380	c.3232G>A	c.(3232-3234)Gct>Act	p.A1078T	HERC1_uc010uil.1_Intron	NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	1078					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AAAGGCCGAGCCACTGACACA	0.468000														85			10		0	0	1	0	0
TXNDC2	84203	broad.mit.edu	37	18	9888089	9888089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9888089G>A	uc002koi.4	+	1	2062	c.1613G>A	c.(1612-1614)tGc>tAc	p.C538Y	TXNDC2_uc002koh.4_Missense_Mutation_p.C471Y|TXNDC2_uc021ugx.1_Missense_Mutation_p.C471Y	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	538	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GATGAACTTTGCGGCGCCCTT	0.418000														42			10		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092537	56092537	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56092537C>T	uc001shh.3	-	5	1187	c.967G>A	c.(967-969)Ggc>Agc	p.G323S	ITGA7_uc001shg.3_Missense_Mutation_p.G319S|ITGA7_uc010sps.2_Missense_Mutation_p.G226S|ITGA7_uc009znw.3_5'Flank|ITGA7_uc009znx.3_Missense_Mutation_p.G206S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	363					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TAGCCAAAGCCGGAGGTCAGG	0.647000														101			22		0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5306689	5306689	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5306689T>C	uc003jdl.3	+	20	3397	c.3259T>C	c.(3259-3261)Tat>Cat	p.Y1087H		NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	1087	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TTCTGGAAAGTATCGAGAGCT	0.488000														140			34		0	0	1	0	0
NOVA1	4857	broad.mit.edu	37	14	26917292	26917292	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:26917292C>T	uc001wqa.3	-	5	1817	c.1031G>A	c.(1030-1032)gGc>gAc	p.G344D	NOVA1_uc001wpy.3_Missense_Mutation_p.G466D|NOVA1_uc001wpz.3_Missense_Mutation_p.G442D	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	469	Ala-rich.				RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATTCCTTGTGCCAGGTACGAA	0.443000														58			8		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49094859	49094859	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49094859G>A	uc010hkq.3	-	3	1070	c.774C>T	c.(772-774)taC>taT	p.Y258Y	QRICH1_uc003cvu.3_Silent_p.Y258Y|QRICH1_uc003cvv.3_Silent_p.Y258Y|QRICH1_uc021wxr.1_Silent_p.Y195Y	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	258	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGAGATGGCGTAGGACACAG	0.612000														189			31		0	0	1	0	0
PLEKHM3	389072	broad.mit.edu	37	2	208811193	208811193	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208811193C>T	uc002vcl.2	-	3	2080	c.1590G>A	c.(1588-1590)gtG>gtA	p.V530V	PLEKHM3_uc002vcm.2_Silent_p.V530V	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	530					intracellular signal transduction		metal ion binding	p.V530M(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTAGTTGCACACCTTGGCTT	0.453000														171			48		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98816148	98816148	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98816148A>G	uc001kmw.2	-	12	1483	c.1231T>C	c.(1231-1233)Tcc>Ccc	p.S411P	SLIT1_uc009xvh.1_Missense_Mutation_p.S421P	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	411					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATACAGGGAGAGCAGTGAG	0.582000														245			64		0	0	1	0	0
CCDC96	257236	broad.mit.edu	37	4	7044246	7044246	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7044246G>T	uc003gjv.2	-	0	483	c.420C>A	c.(418-420)ttC>ttA	p.F140L	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	140	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						GAGAGGCCTGGAACCTGACTT	0.701000														87			15		9.16793e-09	1.00855e-08	1	1	0
CYP1B1	1545	broad.mit.edu	37	2	38298132	38298132	+	Silent	SNP	G	A	A	rs139251365		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38298132G>A	uc002rqo.2	-	2	1767	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	455					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	TGCTGGTCAGGTCCTTGTTGA	0.488000														96			24		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180772672	180772672	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180772672A>C	uc001goi.3	+	3	564	c.372A>C	c.(370-372)caA>caC	p.Q124H	XPR1_uc009wxm.2_Missense_Mutation_p.Q124H|XPR1_uc009wxn.3_Missense_Mutation_p.Q124H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	124	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AACGTGTCCAACATAGAAATA	0.438000														163			54		0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632237	169632237	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:169632237C>T	uc003qwt.3	-	13	2237	c.1989G>A	c.(1987-1989)gcG>gcA	p.A663A		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	663	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGATGCACTCCGCGTGCTTGT	0.627000														239			51		0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27185169	27185169	+	Missense_Mutation	SNP	A	G	G	rs139024598	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27185169A>G	uc002hcy.1	+	4	552	c.542A>G	c.(541-543)cAc>cGc	p.H181R	ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'UTR	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	181	G.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CTCAGGCATCACCTGGAGCTC	0.478000														97			17		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764319	140764319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140764319C>T	uc003lka.2	+	0	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A618V	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTTGCGGTTGGGCTG	0.642000														233			10		0	0	1	0	0
CNN3	1266	broad.mit.edu	37	1	95363358	95363358	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:95363358G>A	uc001dqz.4	-	6	1215	c.930C>T	c.(928-930)ggC>ggT	p.G310G	CNN3_uc010otv.2_Silent_p.G269G|CNN3_uc010otx.2_Silent_p.G264G	NM_001839	NP_001830	Q15417	CNN3_HUMAN	Homo sapiens calponin 3, acidic (CNN3), mRNA.	310	Asp/Glu-rich (acidic).				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CCTGGTACTCGCCATGATACT	0.428000														222			15		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127978382	127978382	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127978382C>T	uc003vmp.2	-	4	578	c.463G>A	c.(463-465)Ggt>Agt	p.G155S	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.G102S	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	155	RRM 2.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AAACCAAAACCGCGCATCTTC	0.418000														53			8		0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74026139	74026139	+	Missense_Mutation	SNP	C	T	T	rs146794329		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:74026139C>T	uc010izj.1	-	17	2094	c.1768G>A	c.(1768-1770)Ggg>Agg	p.G590R	GFM2_uc003kdh.1_Missense_Mutation_p.G558R|GFM2_uc003kdi.1_Missense_Mutation_p.G511R|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	558					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	p.G558W(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGGAGAGGCCCGAGATAGGTC	0.433000														67			20		0	0	1	0	0
SLC9C1	285335	broad.mit.edu	37	3	111887888	111887888	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111887888G>T	uc003dyu.3	-	24	3295	c.3073C>A	c.(3073-3075)Cta>Ata	p.L1025I	SLC9C1_uc011bhu.2_Missense_Mutation_p.L288I|SLC9C1_uc010hqc.3_Missense_Mutation_p.L977I	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	1025					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										GAGAGCTTTAGTTGCATATTG	0.274000														50			7		0.00198382	0.00202356	1	1	0
RPSA	3921	broad.mit.edu	37	19	24010369	24010369	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:24010369G>A	uc002nrn.3	+	3	829	c.406G>A	c.(406-408)Gag>Aag	p.E136K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	136					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		GCCTCTCACGGAGGCATCTTA	0.537000														85			6		0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66700219	66700219	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66700219G>T	uc001sti.2	+	2	730	c.702G>T	c.(700-702)ggG>ggT	p.G234G	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	234					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.I233L(1)|p.I233M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGATCATAGGGTCAGGTTCTA	0.363000														97			11		1.08611e-07	1.17606e-07	1	1	0
EPN3	55040	broad.mit.edu	37	17	48614080	48614080	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48614080G>A	uc010wms.2	+	2	516	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	EPN3_uc002ira.4_Missense_Mutation_p.E55K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.E55K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	55	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGCCTTCACCGAAGTCATGGG	0.597000														207			36		0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506754	10506754	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10506754G>A	uc002mof.1	-	1	344	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	76					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTGCCTTGCCGCCCTCGGCCA	0.652000														370			92		0	0	1	0	0
PHLDB2	90102	broad.mit.edu	37	3	111658331	111658331	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111658331C>T	uc010hqa.3	+	6	2551	c.2140C>T	c.(2140-2142)Ctg>Ttg	p.L714L	PHLDB2_uc003dyc.3_Silent_p.L698L|PHLDB2_uc003dyd.3_Silent_p.L671L|PHLDB2_uc003dyg.3_Silent_p.L714L|PHLDB2_uc003dyh.3_Silent_p.L671L|PHLDB2_uc003dyi.3_Silent_p.L300L	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	714						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GGATGCTGACCTGTTGGATGT	0.403000														115			10		0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389182	20389182	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20389182G>T	uc010tkw.2	+	0	417	c.417G>T	c.(415-417)agG>agT	p.R139S		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGAGCCGAAGGACATGCACTG	0.453000														474			62		1.95512e-22	2.41004e-22	1	1	0
NCAPH	23397	broad.mit.edu	37	2	97009891	97009891	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97009891A>C	uc002svz.1	+	5	728	c.644A>C	c.(643-645)aAg>aCg	p.K215T	NCAPH_uc010fhu.1_Missense_Mutation_p.K191T|NCAPH_uc010fhv.1_Missense_Mutation_p.K204T|NCAPH_uc010yum.1_Missense_Mutation_p.K191T|NCAPH_uc010yun.1_Missense_Mutation_p.K79T	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	215					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GTAAAGCCAAAGAAGAAGCAC	0.438000														99			20		0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50393095	50393095	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50393095C>T	uc002pqv.2	-	10	2392	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	IL4I1_uc002pqt.1_Silent_p.S512S|IL4I1_uc021uxy.1_Silent_p.S534S|IL4I1_uc002pqu.2_Silent_p.S534S|IL4I1_uc010eno.2_Silent_p.S520S	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	512						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		TGGCCGTGTCCGATGCAGGCC	0.692000														106			28		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6215750	6215750	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6215750C>A	uc001amb.2	-	3	526	c.415G>T	c.(415-417)Gcc>Tcc	p.A139S		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	139					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCCCACTCGGCCATGAGCTGC	0.627000														95			17		1.5739e-10	1.77479e-10	1	1	0
AGBL2	79841	broad.mit.edu	37	11	47732006	47732006	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47732006G>T	uc001ngg.3	-	3	457	c.155C>A	c.(154-156)cCt>cAt	p.P52H	AGBL2_uc010rhq.1_Missense_Mutation_p.P52H|AGBL2_uc001ngh.1_Missense_Mutation_p.P52H	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	52					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	p.P52H(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAGGCATTGAGGGTTATTCTT	0.433000														115			20		2.4624e-09	2.73094e-09	1	1	0
ZC3H7B	23264	broad.mit.edu	37	22	41747608	41747608	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41747608G>A	uc003azw.3	+	16	2208	c.1992G>A	c.(1990-1992)tgG>tgA	p.W664*		NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	680					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						AGAAGTACTGGCAGCAGATGG	0.532000														50			7		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3133503	3133503	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3133503G>A	uc021xkv.1	+	16	2381	c.2236_splice	c.e16+1	p.E746_splice		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	746					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAATACCCTGGTATGTTAAAA	0.403000														147			31		0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821008	97821008	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97821008C>T	uc003upd.2	+	10	1524	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	411					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GACTTACCTGCGGCTGCAGAG	0.537000														81			15		0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671080	186671080	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:186671080A>G	uc002upl.3	+	16	17314	c.17314A>G	c.(17314-17316)Aat>Gat	p.N5772D	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTCATTGAAAATATTTTTGA	0.378000														92			19		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2139876	2139876	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2139876G>A	uc002fub.1	-	9	2834	c.2779C>T	c.(2779-2781)Ctg>Ttg	p.L927L	SMG6_uc010vqv.1_Silent_p.L19L|SMG6_uc002fud.2_Silent_p.L896L|AJ276246_uc002fuc.1_5'Flank	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	927					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGTGCTGCAGTAACACCTGG	0.507000														104			25		0	0	1	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30297258	30297258	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30297258G>A	uc010jrz.3	+	2	476	c.164G>A	c.(163-165)cGc>cAc	p.R55H	HCG18_uc003npx.2_5'Flank|HCG18_uc003npy.2_5'Flank|TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.R55H|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.R55H|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.R55H|TRIM39-RPP21_uc010jsa.2_Missense_Mutation_p.R55H	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	0						intracellular	zinc ion binding										TGCATCACCCGCTGGTGGGAG	0.547000														221			51		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992915	28992915	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28992915A>G	uc002kwr.2	+	14	2672	c.2537A>G	c.(2536-2538)gAc>gGc	p.D846G	DSG4_uc002kwq.2_Missense_Mutation_p.D827G	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	827					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTGTGGATGACTTAGATGAA	0.453000														150			31		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130928115	130928115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:130928115G>A	uc003kvn.2	-	3	448	c.242C>T	c.(241-243)tCt>tTt	p.S81F	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S131F|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S81F|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S81F|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S81F|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.S81F|RAPGEF6_uc010jdk.3_Missense_Mutation_p.S81F	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	81					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACAAGCACAGATCCAGAAAG	0.353000														56			9		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176857313	176857313	+	Missense_Mutation	SNP	G	T	T	rs141185084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176857313G>T	uc001glc.3	-	17	3180	c.2968C>A	c.(2968-2970)Ctc>Atc	p.L990I	ASTN1_uc001glb.1_Missense_Mutation_p.L990I|ASTN1_uc001gld.1_Missense_Mutation_p.L990I	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	998					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCACCAGAGAGAGCTCATG	0.542000														99			21		2.37509e-13	2.76693e-13	1	1	0
LPL	4023	broad.mit.edu	37	8	19805714	19805714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19805714G>A	uc003wzk.4	+	1	482	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	38					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TATCGACATCGAAAGTAAATT	0.418000														203			46		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629378	30629378	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30629378C>T	uc001iva.4	-	3	394	c.331_splice	c.e3-1	p.G111_splice	MTPAP_uc001ivb.4_Splice_Site_p.G241_splice|MTPAP_uc001ivc.2_Splice_Site_p.G111_splice	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	111					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AGCATAGAGACCCTATACCAA	0.353000														113			18		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223067	118223067	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118223067C>A	uc004era.4	-	10	2126	c.2126G>T	c.(2125-2127)aGc>aTc	p.S709I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	709										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TAAATCAAAGCTGAAAGCTTC	0.428000														58			14		6.31663e-08	6.86475e-08	1	1	0
ARHGAP6	395	broad.mit.edu	37	X	11157333	11157333	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:11157333G>T	uc004cup.1	-	12	3448	c.2575C>A	c.(2575-2577)Ctg>Atg	p.L859M	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Missense_Mutation_p.L656M|ARHGAP6_uc004cun.1_Missense_Mutation_p.L679M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	859					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CGGCTCTGCAGCCCGGCCACA	0.706000														39			5		0.000602214	0.000618135	1	1	0
KIF4B	285643	broad.mit.edu	37	5	154393593	154393593	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154393593T>C	uc010jih.1	+	0	334	c.174T>C	c.(172-174)tgT>tgC	p.C58C		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	58	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACCCCTGTACTGAGCAGG	0.502000														88			20		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187538356	187538356	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187538356C>A	uc003izf.3	-	11	9067	c.8879_splice	c.e11-1	p.G2960_splice		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2960	Cadherin 27.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGATCCCCTCCTATTAAATCA	0.313000										HNSCC(5;0.00058)				35			6		0.0215528	0.0217347	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118112410	118112410	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118112410G>A	uc004eqw.3	+	1	951	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LONRF3_uc004eqx.3_Missense_Mutation_p.R307H|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'UTR	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	307					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TGTAAGCTCCGCCCGATGGGT	0.498000														99			28		0	0	1	0	0
LPO	4025	broad.mit.edu	37	17	56326984	56326984	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326984G>T	uc002ivt.3	+	5	817	c.501G>T	c.(499-501)gaG>gaT	p.E167D	LPO_uc010dco.2_Missense_Mutation_p.E167D|LPO_uc010wnr.1_Missense_Mutation_p.E84D|LPO_uc010wns.2_Missense_Mutation_p.E108D|LPO_uc010dcp.3_Missense_Mutation_p.E84D|LPO_uc010dcq.3_5'UTR|LPO_uc010dcr.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	167					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGCCCGCGGAGTACGAGGACG	0.726000														51			8		0.000157383	0.000162836	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100187909	100187909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100187909G>A	uc011kjz.1	+	2	433	c.365G>A	c.(364-366)cGc>cAc	p.R122H	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R84H|FBXO24_uc003uvm.1_Missense_Mutation_p.R84H|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R72H	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	84						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCATCTGTCGCAGACTCAGT	0.592000														105			20		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2604978	2604978	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2604978C>A	uc002wgf.1	+	16	2257	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	TMC2_uc002wgg.1_Missense_Mutation_p.L732M	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	748						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCAACCTTCCTGGGCAAGAT	0.498000														139			44		9.84934e-19	1.19234e-18	1	1	0
CECR2	27443	broad.mit.edu	37	22	18003201	18003201	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18003201C>T	uc010gqw.1	+	7	886	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	CECR2_uc010gqv.1_Missense_Mutation_p.R175C|CECR2_uc002zml.2_Missense_Mutation_p.R175C|CECR2_uc002zmm.1_Missense_Mutation_p.R147C	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	338					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAAGAAGAGCGTCAGATTCT	0.493000														23			6		0	0	1	0	0
AV1S4A1N1T	0	broad.mit.edu	37	14	22322243	22322243	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22322243T>G	uc001wcc.3	+	2	393	c.194T>G	c.(193-195)cTt>cGt	p.L65R	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: SEB 414.																		GCTTTTATACTTCTTGTTTGC	0.393000														33			5		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16353838	16353838	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16353838A>C	uc001axu.3	+	7	769	c.689A>C	c.(688-690)cAc>cCc	p.H230P	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.H187P|CLCNKA_uc001axv.3_Missense_Mutation_p.H230P|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	230					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATGTCTTCCCACTTCTCTGTC	0.647000														333			24		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6185467	6185467	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6185467G>A	uc002mef.1	+	10	1570	c.1343G>A	c.(1342-1344)gGg>gAg	p.G448E	ACSBG2_uc002mee.1_Missense_Mutation_p.G261E|ACSBG2_uc002meg.1_Missense_Mutation_p.G448E|ACSBG2_uc002meh.1_Missense_Mutation_p.G448E|ACSBG2_uc002mei.1_Missense_Mutation_p.G398E|ACSBG2_uc010xiz.1_Missense_Mutation_p.G448E	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	448					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCTTGACTGGGTGTAAGAAT	0.527000														355			73		0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69966658	69966658	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69966658A>G	uc001jnm.4	+	19	3976	c.3791A>G	c.(3790-3792)tAc>tGc	p.Y1264C	MYPN_uc001jnn.4_Missense_Mutation_p.Y989C|MYPN_uc001jno.4_Missense_Mutation_p.Y1264C|MYPN_uc009xpt.3_Missense_Mutation_p.Y1264C|MYPN_uc010qit.2_Missense_Mutation_p.Y970C|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	1264	Interaction with ACTN.					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						CTGGATATATACGGTAAGTGT	0.448000														87			30		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517417	158517417	+	Missense_Mutation	SNP	G	A	A	rs148583112		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517417G>A	uc010pil.2	-	0	479	c.479C>T	c.(478-480)aCt>aTt	p.T160I		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AATCATGGCAGTCATGAGTCC	0.468000														78			15		0	0	1	0	0
KTN1	3895	broad.mit.edu	37	14	56103175	56103175	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:56103175A>G	uc001xcb.3	+	10	1772	c.1470A>G	c.(1468-1470)ctA>ctG	p.L490L	KTN1_uc001xcc.3_Silent_p.L490L|KTN1_uc001xcd.3_Silent_p.L490L|KTN1_uc001xce.3_Silent_p.L490L|KTN1_uc010trb.2_Silent_p.L490L|KTN1_uc001xcf.1_Silent_p.L490L	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	490					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AGGTTCAACTACAAGAAGCTG	0.403000			T	RET	papillary thryoid									23			6		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92577129	92577129	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92577129T>G	uc001pdj.4	+	17	10613	c.10596T>G	c.(10594-10596)gtT>gtG	p.V3532V	FAT3_uc001pdi.4_5'UTR	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3532	Cadherin 32.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGCAAGTTTCTCACACTT	0.443000										TCGA Ovarian(4;0.039)				305			60		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110719341	110719341	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110719341C>T	uc009wfq.3	+	5	1305	c.844C>T	c.(844-846)Cta>Tta	p.L282L		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	282					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TGATGGCATCCTACACATGTT	0.572000														202			21		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242367	113242367	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242367C>T	uc001eck.3	+	17	2914	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Nonsense_Mutation_p.R882*|MOV10_uc001ecm.3_Nonsense_Mutation_p.R822*	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	882					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CTCCACCGTGCGAAGCAGCCA	0.552000														307			36		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719270	155719270	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155719270G>T	uc003ioo.3	+	2	632	c.459G>T	c.(457-459)aaG>aaT	p.K153N	RBM46_uc011cim.1_Missense_Mutation_p.K153N|RBM46_uc003iop.1_Missense_Mutation_p.K153N	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	153	RRM 2.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				AGGAAAAGAAGAAAGAAGAAA	0.328000														88			12		7.03913e-09	7.75971e-09	1	1	0
GBP2	2634	broad.mit.edu	37	1	89587545	89587545	+	Silent	SNP	C	T	T	rs140687152	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89587545C>T	uc001dmz.1	-	1	376	c.105G>A	c.(103-105)acG>acA	p.T35T	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	35					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CCACAGGCTGCGTAATTGCAG	0.527000														156			43		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46387834	46387834	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46387834C>T	uc001ncn.1	+	1	153	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	DGKZ_uc001nch.2_Intron|DGKZ_uc010rgq.2_Intron|DGKZ_uc010rgr.2_Intron|DGKZ_uc001ncj.2_Intron|DGKZ_uc001nck.2_Intron|DGKZ_uc001ncm.2_Intron|DGKZ_uc001ncl.2_Intron|DGKZ_uc009yky.1_Intron|DGKZ_uc010rgs.1_Intron|DGKZ_uc001nci.2_Intron	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	10					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GAGACATTTCCGGGGGAAGGT	0.677000														51			6		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127224482	127224482	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127224482T>G	uc003vma.3	-	0	1173	c.755A>C	c.(754-756)aAg>aCg	p.K252T		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	252						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CTGCAGCAGCTTCTGGAGCTC	0.567000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		153			25		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66989177	66989177	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66989177C>T	uc002jhu.3	-	26	3747	c.3604G>A	c.(3604-3606)Gta>Ata	p.V1202I	ABCA9_uc010dez.3_Missense_Mutation_p.V1164I	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1202					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCCAGGTATACAATTTCAGAT	0.343000														53			8		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907993	12907993	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12907993C>A	uc010obf.2	-	1	376	c.150G>T	c.(148-150)aaG>aaT	p.K50N	LOC649330_uc009vno.2_Missense_Mutation_p.K50N	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	50							nucleic acid binding|nucleotide binding										AGGCAAAGCCCTTATGAACAG	0.458000														197			19		1.2644e-06	1.3491e-06	1	1	0
EIF4A3	9775	broad.mit.edu	37	17	78111992	78111992	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78111992G>A	uc010wuc.2	-	8	889	c.816C>T	c.(814-816)taC>taT	p.Y272Y	EIF4A3_uc002jxs.3_Silent_p.Y272Y	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	272	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			TCAGTGTGTCGTAGAGGTCAC	0.478000														168			38		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43345051	43345051	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43345051G>A	uc010rfh.1	+	5	788	c.615G>A	c.(613-615)caG>caA	p.Q205Q	API5_uc001mxf.2_Silent_p.Q205Q|API5_uc010rfg.1_Silent_p.Q194Q|API5_uc010rfi.1_Silent_p.Q151Q|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Silent_p.Q79Q	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	205					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.L204_S208delLQTVS(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						AAAGCTTACAGACAGTGAGTG	0.443000														151			29		0	0	1	0	0
CCDC90B	60492	broad.mit.edu	37	11	82976975	82976975	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82976975T>C	uc001pae.3	-	7	1003	c.641A>G	c.(640-642)gAc>gGc	p.D214G	CCDC90B_uc001pac.3_Missense_Mutation_p.D113G|CCDC90B_uc001pad.3_Missense_Mutation_p.D113G|CCDC90B_uc001paf.3_Missense_Mutation_p.D205G	NM_021825	NP_068597	Q9GZT6	CC90B_HUMAN	Homo sapiens coiled-coil domain containing 90B (CCDC90B), mRNA.	214						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				AATTTCAGCGTCAATTTTATT	0.338000														64			12		0	0	1	0	0
PAMR1	25891	broad.mit.edu	37	11	35461197	35461197	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:35461197G>T	uc001mwf.3	-	8	1172	c.1129C>A	c.(1129-1131)Ctt>Att	p.L377I	PAMR1_uc001mwg.3_Missense_Mutation_p.L360I|PAMR1_uc010rew.2_Missense_Mutation_p.L249I|PAMR1_uc010rex.2_Missense_Mutation_p.L320I	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	360					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCATCGGAAGAACTCTCCTT	0.453000														133			26		2.27525e-19	2.76268e-19	1	1	0
TCF20	6942	broad.mit.edu	37	22	42611246	42611246	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42611246G>A	uc003bcj.1	-	0	200	c.66C>T	c.(64-66)caC>caT	p.H22H	TCF20_uc003bck.1_Silent_p.H22H	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGGATGAGCCGTGTACCTCCT	0.567000														117			31		0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41814074	41814074	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41814074G>A	uc001zod.3	-	20	3024	c.2900C>T	c.(2899-2901)gCg>gTg	p.A967V		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	967	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity	p.A967V(2)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGCTGCAGCGCTGCCTGCAG	0.587000														64			20		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85997326	85997326	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85997326C>A	uc001kcz.1	-	1	261	c.239G>T	c.(238-240)aGg>aTg	p.R80M		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	80						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGGGGCCTGAAGGCCTC	0.721000														110			21		7.41877e-09	8.17068e-09	1	1	0
MAST4	375449	broad.mit.edu	37	5	66432472	66432472	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66432472C>T	uc021xzk.1	+	18	2782	c.2474C>T	c.(2473-2475)cCc>cTc	p.P825L	MAST4_uc003jut.2_Missense_Mutation_p.P636L|MAST4_uc003juu.1_Missense_Mutation_p.P646L|MAST4_uc011cra.1_Missense_Mutation_p.P619L|MAST4_uc003juv.2_Missense_Mutation_p.P631L|MAST4_uc003juw.3_Missense_Mutation_p.P631L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	828	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGGCAGAATCCCCTGGAGAGG	0.458000														13			3		0	0	1	0	0
C4orf50	389197	broad.mit.edu	37	4	5966868	5966868	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5966868C>T	uc003git.2	-	5		c.1760G>A						Q6ZRC1	CD050_HUMAN	Homo sapiens cDNA FLJ46481 fis, clone THYMU3025772.											breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						AGAGGTATGTCTGAGCTGGAA	0.507000														82			15		0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55423572	55423572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55423572C>T	uc002qib.2	+	5	757	c.719C>T	c.(718-720)aCg>aTg	p.T240M	NCR1_uc002qic.2_Missense_Mutation_p.T239M|NCR1_uc002qie.2_Intron|NCR1_uc002qid.2_Missense_Mutation_p.T145M|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Missense_Mutation_p.T133M	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	240					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACCACAGAGACGGGACTCCAG	0.512000														203			42		0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64841907	64841907	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64841907C>A	uc001ssb.3	+	24	3391	c.2885C>A	c.(2884-2886)cCc>cAc	p.P962H		NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	962	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGAGCAAAGCCCTGAGGACTG	0.383000														78			20		1.36565e-18	1.65157e-18	1	1	0
SLC9B2	133308	broad.mit.edu	37	4	103947602	103947602	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103947602G>A	uc003hwx.4	-	11	2411	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	SLC9B2_uc010iln.2_Intron|SLC9B2_uc003hwy.3_Silent_p.G513G|SLC9B2_uc011cew.2_Silent_p.G456G|SLC9B2_uc011cex.1_Missense_Mutation_p.P411S	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	513					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GAAGCCTGGGGCCCAGTAAAC	0.418000														122			28		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59011712	59011712	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59011712C>A	uc002qtc.2	-	5	1572	c.1462G>T	c.(1462-1464)Ggg>Tgg	p.G488W	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	488					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATACCTAGCCCTACAGGGATG	0.612000														110			21		4.96729e-08	5.40616e-08	1	1	0
MYO18B	84700	broad.mit.edu	37	22	26224921	26224921	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26224921C>T	uc003abz.1	+	14	3215	c.2965C>T	c.(2965-2967)Cag>Tag	p.Q989*	MYO18B_uc003aca.1_Nonsense_Mutation_p.Q870*|MYO18B_uc010guy.1_Nonsense_Mutation_p.Q870*|MYO18B_uc010guz.1_Nonsense_Mutation_p.Q870*|MYO18B_uc011aka.1_Nonsense_Mutation_p.Q143*|MYO18B_uc011akb.1_Nonsense_Mutation_p.Q502*	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	989	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCACGCTACAGCGATATCA	0.602000														97			21		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95657489	95657489	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:95657489C>A	uc003uoc.4	+	10	1300	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	DYNC1I1_uc003uod.4_Silent_p.S324S|DYNC1I1_uc003uob.3_Silent_p.S304S|DYNC1I1_uc003uoe.4_Silent_p.S321S|DYNC1I1_uc010lfl.3_Silent_p.S330S	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	341					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCTGACAGTCCTCTGTGATGT	0.478000														262			60		1.55088e-19	1.88492e-19	1	1	0
ATP2B1	490	broad.mit.edu	37	12	90024380	90024380	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90024380G>A	uc001tbh.3	-	4	1011	c.830C>T	c.(829-831)gCt>gTt	p.A277V	ATP2B1_uc001tbg.3_Missense_Mutation_p.A277V	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	277					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TACACCTACAGCTGTAACTAC	0.363000														63			7		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231235641	231235641	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231235641C>T	uc010fxm.1	+	5	633	c.542C>T	c.(541-543)cCg>cTg	p.P181L	SP140L_uc010fxn.2_Missense_Mutation_p.P94L|SP140L_uc010fxo.1_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	181						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						CCAGAAAGCCCGGAAGCAAGG	0.532000														34			10		0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921568	167921568	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:167921568G>A	uc011cjq.1	-	2	375	c.318C>T	c.(316-318)cgC>cgT	p.R106R	SPOCK3_uc021xuf.1_Silent_p.R97R|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Silent_p.R97R|SPOCK3_uc011cjs.1_Silent_p.R46R|SPOCK3_uc003irj.1_Silent_p.R94R|SPOCK3_uc011cjt.1_Silent_p.R5R|SPOCK3_uc011cjp.2_Silent_p.R94R|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Silent_p.R94R|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	97					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ATACTTTATGGCGACTACATT	0.358000														104			6		0	0	1	0	0
ATP6V0A1	535	broad.mit.edu	37	17	40620067	40620067	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40620067T>G	uc002hzs.3	+	3	403	c.236T>G	c.(235-237)aTt>aGt	p.I79S	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.I79S|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.I79S|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.I79S|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.I79S|ATP6V0A1_uc010cyg.3_Intron|ATP6V0A1_uc010wgl.2_5'Flank|ATP6V0A1_uc002hzp.1_Missense_Mutation_p.I79S	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	79					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	p.I79N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		AACATTCCGATTATGGACACC	0.393000														67			9		0	0	1	0	0
GNAQ	2776	broad.mit.edu	37	9	80412494	80412494	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:80412494G>A	uc004akw.3	-	3	615	c.547C>T	c.(547-549)Cga>Tga	p.R183*	GNAQ_uc011lso.2_5'UTR	NM_002072	NP_002063	P50148	GNAQ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), q polypeptide (GNAQ), mRNA.	183					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	p.R183Q(13)|p.R183*(2)|p.V182I(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GTGGGGACTCGAACTCTAAGC	0.468000			Mis		uveal melanoma									68			36		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48386976	48386976	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48386976G>T	uc002phr.2	-	1	343	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	68					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		GATGGGCACAGATTGGATCCA	0.483000														103			5		0.00116845	0.00119477	1	1	0
ZNF648	127665	broad.mit.edu	37	1	182026618	182026618	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026618C>T	uc001goz.3	-	1	736	c.528G>A	c.(526-528)gcG>gcA	p.A176A	ZNF648_uc021pfu.1_Silent_p.A176A	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						CACTTTTGTGCGCACAGAGAT	0.567000														93			23		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893874	78893874	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893874C>A	uc002bec.3	-	4	1611	c.1110G>T	c.(1108-1110)agG>agT	p.R370S	CHRNA3_uc002beb.3_Missense_Mutation_p.R370S|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	370					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTAGAGGGGCCTCGGCTTCT	0.577000														164			39		2.51541e-25	3.13464e-25	1	1	0
TMEM215	401498	broad.mit.edu	37	9	32784835	32784835	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32784835C>T	uc022bfh.1	+	0	654	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TMEM215_uc003zri.4_Silent_p.Y218Y	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	218						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ATGACAGATACTGTTGTTATA	0.478000														127			26		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73447448	73447448	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73447448C>T	uc001jrx.4	+	17	2415	c.2025C>T	c.(2023-2025)ttC>ttT	p.F675F	CDH23_uc001jry.3_Silent_p.F675F|CDH23_uc001jrz.3_Silent_p.F675F	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	677	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCGCCTACTTCGTCTCCGTGG	0.627000														76			19		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107854756	107854756	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107854756G>T	uc003prx.3	+	3	1019	c.515G>T	c.(514-516)aGc>aTc	p.S172I	SOBP_uc003prw.1_Missense_Mutation_p.S172I	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	172							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GAGGTGAAAAGCTTCTGCAGC	0.507000														203			55		4.09106e-26	5.10784e-26	1	1	0
GIT2	9815	broad.mit.edu	37	12	110385234	110385234	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110385234A>G	uc001tps.2	-	14	1633	c.1468T>C	c.(1468-1470)Tct>Cct	p.S490P	TCHP_uc001tpo.1_Intron|GIT2_uc001tpq.2_Missense_Mutation_p.S490P|GIT2_uc001tpv.2_Missense_Mutation_p.S442P|GIT2_uc001tpu.2_Missense_Mutation_p.S440P|GIT2_uc001tpt.2_Intron|GIT2_uc010sxu.1_Missense_Mutation_p.S428P	NM_057169	NP_476510	Q14161	GIT2_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 2 (GIT2), transcript variant 1, mRNA.	490					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						GTGTACTCAGAACCAGTTTGC	0.493000														152			32		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828568	18828568	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18828568G>A	uc001ipr.2	+	13	1958	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	CACNB2_uc001ipt.2_Missense_Mutation_p.R595H|CACNB2_uc009xjz.1_Missense_Mutation_p.R383H|CACNB2_uc001ips.2_Missense_Mutation_p.R609H|CACNB2_uc001ipu.3_Missense_Mutation_p.R605H|CACNB2_uc001ipv.3_Missense_Mutation_p.R581H|CACNB2_uc009xka.2_Missense_Mutation_p.R567H|CACNB2_uc001ipw.2_Missense_Mutation_p.R540H|CACNB2_uc001ipx.2_Missense_Mutation_p.R578H|CACNB2_uc001ipz.2_Missense_Mutation_p.R555H|CACNB2_uc001ipy.2_Missense_Mutation_p.R579H|CACNB2_uc010qco.1_Missense_Mutation_p.R547H|CACNB2_uc001iqa.2_Missense_Mutation_p.R585H|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	633					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCCAAGGATCGCTACTGTGAA	0.527000														128			22		0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145625850	145625850	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145625850C>A	uc003zcj.3	-	7	799	c.724G>T	c.(724-726)Gcc>Tcc	p.A242S	CPSF1_uc003zck.1_Missense_Mutation_p.A164S|CPSF1_uc011lle.1_Missense_Mutation_p.A242S|CPSF1_uc022bco.1_5'Flank|CPSF1_uc011llf.1_Missense_Mutation_p.A242S	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	242					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTGAGATGGCCACAATGGAG	0.662000														219			28		4.74835e-14	5.56603e-14	1	1	0
VAC14	55697	broad.mit.edu	37	16	70778369	70778369	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70778369G>T	uc002ezm.3	-	12	1743	c.1485C>A	c.(1483-1485)ctC>ctA	p.L495L	VAC14_uc010cfw.3_Silent_p.L261L|VAC14_uc002ezn.3_Silent_p.L60L|VAC14_uc010cfx.1_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	495					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGGGCACCTGGAGCTCTGAGT	0.642000														137			41		7.05121e-23	8.70768e-23	1	1	0
FARP1	10160	broad.mit.edu	37	13	99099020	99099020	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99099020T>C	uc001vnh.3	+	26	3337	c.3098T>C	c.(3097-3099)tTc>tCc	p.F1033S	FARP1_uc001vnj.3_Missense_Mutation_p.F1002S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	1002					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCTGCACTTCAAGTCCCAC	0.577000														140			37		0	0	1	0	0
ZSCAN12	9753	broad.mit.edu	37	6	28366005	28366005	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28366005G>A	uc011dlh.2	-	1	357	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	ZSCAN12_uc010jre.3_Non-coding_Transcript	NM_001163391	NP_001156863			Homo sapiens zinc finger and SCAN domain containing 12 (ZSCAN12), transcript variant 1, mRNA.											breast(2)|endometrium(3)|urinary_tract(1)	6						GCCTCACGGGGACCAGATGTC	0.542000														57			15		0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964670	176964670	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176964670C>T	uc010zev.1	+	0	141	c.141C>T	c.(139-141)ggC>ggT	p.G47G	HOXD12_uc021vsp.1_Silent_p.G47G	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	47				GGQLAALPPISYPRG -> AASLAFPLSPTRA (in Ref. 1; AAF79044).		nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		ACCCGCGCGGCGCGCTGCCCT	0.711000														114			56		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90872841	90872841	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90872841A>G	uc003hst.3	+	6	3275	c.3204A>G	c.(3202-3204)agA>agG	p.R1068R	MMRN1_uc010iku.3_Silent_p.R371R|MMRN1_uc011cds.2_Silent_p.R810R	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1068	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGCCTGCAGACATCCTTTTA	0.433000														65			13		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52258438	52258438	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:52258438C>A	uc003xqu.4	-	19	4072	c.3971G>T	c.(3970-3972)aGc>aTc	p.S1324I	PXDNL_uc003xqt.4_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1324					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)				AACAGGATAGCTGTATTGAGC	0.388000														52			18		1.55795e-14	1.83136e-14	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40400136	40400136	+	Missense_Mutation	SNP	A	T	T	rs140321591		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:40400136A>T	uc003oph.1	-	1	1182	c.717T>A	c.(715-717)ttT>ttA	p.F239L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	239						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGTTACCCCCAAAACTAAAGG	0.607000														128			26		0	0	1	0	0
TMTC2	160335	broad.mit.edu	37	12	83290240	83290240	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:83290240T>G	uc001szt.3	+	2	1730	c.1298T>G	c.(1297-1299)cTa>cGa	p.L433R	TMTC2_uc001szr.1_Missense_Mutation_p.L433R|TMTC2_uc001szs.1_Missense_Mutation_p.L433R|TMTC2_uc010suk.2_Missense_Mutation_p.L188R	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	433						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGCTTCTGCCTACTGATTACA	0.393000														109			31		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160156079	160156079	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160156079C>T	uc001fve.4	+	20	3462	c.2983C>T	c.(2983-2985)Ctc>Ttc	p.L995F	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.L498F|ATP1A4_uc001fvh.3_Missense_Mutation_p.L131F	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	995				ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228).	ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AACCTGGTGGCTCTGTGCCAT	0.547000														494			76		0	0	1	0	0
TP73-AS1	57212	broad.mit.edu	37	1	3662564	3662564	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3662564G>A	uc001akt.4	-	1		c.667C>T			TP73-AS1_uc021ofj.1_Non-coding_Transcript|TP73-AS1_uc021ofk.1_Non-coding_Transcript|TP73-AS1_uc021ofl.1_Non-coding_Transcript|TP73-AS1_uc009vlm.3_Non-coding_Transcript					Homo sapiens TP73 antisense RNA 1 (non-protein coding) (TP73-AS1), transcript variant 5, non-coding RNA.																		CAGACAAGTCGCTGGTGGTGG	0.597000														255			32		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61343134	61343134	+	Missense_Mutation	SNP	A	C	C	rs146888479	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61343134A>C	uc002saw.4	+	16	2068	c.1765A>C	c.(1765-1767)Aag>Cag	p.K589Q	KIAA1841_uc002sax.4_Missense_Mutation_p.K443Q|KIAA1841_uc002say.3_Missense_Mutation_p.K589Q	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	589										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GAAGCCAAAGAAGTTCACTAG	0.383000														65			23		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34030740	34030740	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34030740G>A	uc001zhi.3	+	49	7675	c.7605G>A	c.(7603-7605)ctG>ctA	p.L2535L	RYR3_uc010bar.3_Silent_p.L2535L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2535	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGAAGAGCTGCACCTAACGG	0.498000											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			17		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671449	67671449	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67671449G>A	uc001xja.2	+	4	845	c.555G>A	c.(553-555)tcG>tcA	p.S185S	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	185										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CCAAAGTGTCGGAGGTTTCAA	0.493000														122			26		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27313378	27313378	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313378A>C	uc009xku.1	-	27	4255	c.4083T>G	c.(4081-4083)acT>acG	p.T1361T	ANKRD26_uc001itg.2_Silent_p.T1047T|ANKRD26_uc001ith.2_Silent_p.T1360T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1360						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATCTTACCCAGTTATCTCTC	0.224000														33			6		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2073274	2073274	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2073274C>T	uc003zhc.3	+	10	1908	c.1809C>T	c.(1807-1809)ggC>ggT	p.G603G	SMARCA2_uc003zhd.3_Silent_p.G603G|SMARCA2_uc010mha.3_Silent_p.G594G	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	603					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CAGAAACCGGCAAGGTTCTGT	0.502000														80			17		0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40468908	40468908	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40468908C>T	uc002hzl.1	-	22	2396	c.2156G>A	c.(2155-2157)aGc>aAc	p.S719N	STAT3_uc002hzk.1_Intron|STAT3_uc002hzm.1_Missense_Mutation_p.S718N|STAT3_uc010wgh.1_Missense_Mutation_p.S621N|STAT3_uc002hzn.1_Missense_Mutation_p.S719N|STAT3_uc021txs.1_5'Flank|AK092965_uc010cyf.1_5'Flank	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	719					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		AATGGTATTGCTGCAGGTCGT	0.483000									Hyperimmunoglobulin E Recurrent Infection Syndrome					75			27		0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52685244	52685244	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52685244G>T	uc001sab.3	-	0	56	c.6C>A	c.(4-6)acC>acA	p.T2T	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	2	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGATCCGCAGGTCATGATCC	0.647000														46			10		2.80697e-09	3.10977e-09	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84777068	84777068	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:84777068A>C	uc010fgb.3	+	8	1509	c.1372A>C	c.(1372-1374)Aat>Cat	p.N458H	DNAH6_uc002soo.3_Missense_Mutation_p.N37H|DNAH6_uc002sop.3_Missense_Mutation_p.N37H	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	458	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CTTAACGGTAAATGCTGTTAA	0.343000														60			12		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29673650	29673650	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29673650G>A	uc021qwi.1	-	11	1848	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	TMTC1_uc001riz.3_Missense_Mutation_p.R246W|TMTC1_uc001rja.3_Missense_Mutation_p.R333W|TMTC1_uc001rjb.3_Missense_Mutation_p.R489W|TMTC1_uc001riy.3_5'Flank	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	597						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TCTTTAAACCGCTCCTTTAAA	0.318000														44			8		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164407	2164407	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164407C>G	uc002cos.1	-	10	2826	c.2617G>C	c.(2617-2619)Gtc>Ctc	p.V873L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.V873L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	873	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGGGCAGACATTCTCAAAG	0.667000														76			24		0	0	1	0	0
TUBB1	81027	broad.mit.edu	37	20	57598802	57598802	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57598802C>T	uc002yak.3	+	3	589	c.320C>T	c.(319-321)aCg>aTg	p.T107M		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	107					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGCCACTACACGGAGGGAGCC	0.577000														189			47		0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26669283	26669283	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26669283T>C	uc001mqt.4	+	23	2601	c.2456T>C	c.(2455-2457)aTc>aCc	p.I819T	ANO3_uc010rdr.2_Missense_Mutation_p.I803T|ANO3_uc010rds.2_Missense_Mutation_p.I658T|ANO3_uc010rdt.2_Missense_Mutation_p.I673T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	819						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CTCGAAGGAATCGGTATATTG	0.348000														86			14		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79059359	79059359	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79059359C>T	uc002bej.4	-	18	3105	c.2894G>A	c.(2893-2895)cGa>cAa	p.R965Q	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	965	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GAGGACATTTCGGCGCTGAGT	0.662000														115			39		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530451	5530451	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5530451C>A	uc021qcw.1	-	0	338	c.338G>T	c.(337-339)aGt>aTt	p.S113I	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.S113I	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	113										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATCCAGGACTTGGGCCCTG	0.617000														96			18		1.33834e-09	1.48855e-09	1	1	0
RAD54B	25788	broad.mit.edu	37	8	95390544	95390544	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95390544G>A	uc003ygk.3	-	13	2510	c.2379C>T	c.(2377-2379)gtC>gtT	p.V793V	RAD54B_uc010may.2_Silent_p.V609V	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TGGTGAGGTCGACAACTGCCC	0.353000								Direct reversal of damage;Homologous recombination						34			5		0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	10027631	10027631	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10027631C>A	uc003gmd.3	-	2	120	c.-39_splice	c.e2-1			NM_001001290	NP_001001290	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 2, mRNA.						glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GTTATTGTTTCTGAGAAAGAG	0.418000														47			17		3.45872e-05	3.61362e-05	1	1	0
PPP1R16A	84988	broad.mit.edu	37	8	145724155	145724155	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145724155C>T	uc003zdd.3	+	2	1175	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	AK094577_uc003zde.1_Intron|PPP1R16A_uc003zdf.3_Missense_Mutation_p.R88C	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	88						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTTTGCAGTCCGCCAGTTCCT	0.652000														120			16		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56385880	56385880	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56385880G>A	uc010bfn.3	-	8	4046	c.4046C>T	c.(4045-4047)aCt>aTt	p.T1349I	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.T1163I	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	1252					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GTCTTTAACAGTGCTATTGAA	0.423000														59			15		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75529125	75529125	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75529125C>A	uc001juw.3	+	18	2625	c.2445C>A	c.(2443-2445)agC>agA	p.S815R	SEC24C_uc009xrj.2_3'UTR|SEC24C_uc001jux.3_Missense_Mutation_p.S815R|SEC24C_uc010qko.2_Missense_Mutation_p.S696R|SEC24C_uc010qkp.2_Missense_Mutation_p.S63R|SEC24C_uc010qkq.2_Missense_Mutation_p.S63R|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.3_5'Flank	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	815					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTTACACCAGCTGTGCAGGGC	0.537000														52			12		5.50884e-06	5.8131e-06	1	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25255541	25255541	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25255541G>A	uc002dod.4	-	5	1953	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.R312W	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	516					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATAAAACCGAGTCTCACGG	0.483000														117			41		0	0	1	0	0
ABR	29	broad.mit.edu	37	17	994935	994935	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:994935C>A	uc002fsd.3	-	3	611	c.501G>T	c.(499-501)caG>caT	p.Q167H	ABR_uc002fse.3_Missense_Mutation_p.Q121H|ABR_uc002fsg.3_Missense_Mutation_p.Q130H|ABR_uc002fsh.1_Missense_Mutation_p.Q51H|ABR_uc010cjq.1_Missense_Mutation_p.Q179H	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	167	DH.				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	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CCATGGTGACCTGGCTGTCCC	0.562000														160			44		1.65492e-34	2.09363e-34	1	1	0
OR2W3	343171	broad.mit.edu	37	1	248059536	248059536	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248059536C>A	uc010pzb.2	+	0	648	c.648C>A	c.(646-648)ctC>ctA	p.L216L	OR2W3_uc001idp.1_Silent_p.L216L	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L215L(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TTATCCTGCTCTCTTACAGCT	0.582000														297			88		1.31969e-37	1.67509e-37	1	1	0
NOX3	50508	broad.mit.edu	37	6	155752006	155752006	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:155752006G>A	uc003qqm.3	-	7	965	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	288	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TGTTGAAATCGCCAGAACCTA	0.363000														61			5		0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23287157	23287157	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23287157C>G	uc001irm.4	+	10	1339	c.1256C>G	c.(1255-1257)gCt>gGt	p.A419G	ARMC3_uc010qcv.2_Missense_Mutation_p.A419G|ARMC3_uc010qcw.2_Missense_Mutation_p.A156G	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	419							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCAACGCTGCTACAGTATTA	0.473000														28			14		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026093	16026093	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026093T>C	uc010lsu.3	-	3	622	c.558A>G	c.(556-558)ggA>ggG	p.G186G	MSR1_uc003wwz.3_Silent_p.G168G|MSR1_uc003wxa.3_Silent_p.G168G|MSR1_uc003wxb.3_Silent_p.G168G|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	168					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	p.G168G(1)		haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CATTCCCATGTCCCTGGACTG	0.378000														118			27		0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115570	140115570	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140115570G>A	uc004clz.2	-	0	206	c.95C>T	c.(94-96)gCc>gTc	p.A32V		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	32							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AATCTTCATGGCCTCCATCTT	0.672000														32			10		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81699009	81699009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81699009C>T	uc021xav.1	-	3	775	c.493G>A	c.(493-495)Gtt>Att	p.V165I	GBE1_uc021xax.1_Missense_Mutation_p.V124I	NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	165					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		CCTTCACGAACCACATACTTT	0.338000									Glycogen Storage Disease, type IV					41			16		0	0	1	0	0
SSBP4	170463	broad.mit.edu	37	19	18538218	18538218	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18538218G>A	uc002niy.3	+	1	430	c.117G>A	c.(115-117)caG>caA	p.Q39Q	SSBP4_uc010ebp.3_Silent_p.Q39Q|SSBP4_uc002niz.3_Silent_p.Q39Q	NM_032627	NP_116016	Q9BWG4	SSBP4_HUMAN	Homo sapiens single stranded DNA binding protein 4 (SSBP4), transcript variant 1, mRNA.	39	LisH.					nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						AGTCAGCCCAGACCTTCCTGT	0.642000														52			18		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22414965	22414965	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22414965C>T	uc003gqm.1	-	13	2337	c.2072G>A	c.(2071-2073)cGt>cAt	p.R691H	GPR125_uc010ieo.1_Missense_Mutation_p.R547H	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	691					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TGCAATTCGACGCAGTGTCAC	0.438000														185			38		0	0	1	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344716	38344716	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:38344716G>A	uc010qev.2	+	3	1786	c.1682G>A	c.(1681-1683)tGt>tAt	p.C561Y	ZNF33A_uc001izg.3_Missense_Mutation_p.C555Y|ZNF33A_uc001izh.3_Missense_Mutation_p.C554Y|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Missense_Mutation_p.C555Y	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	554						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTTTGCATGTCCCGAATGT	0.428000														149			38		0	0	1	0	0
COPS2	9318	broad.mit.edu	37	15	49431799	49431799	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49431799G>A	uc001zxh.3	-	3	377	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	COPS2_uc001zxf.3_Missense_Mutation_p.R100W|COPS2_uc010ufa.2_Missense_Mutation_p.R36W	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	100					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity	p.R100L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTGCACTCCGAATATAGGTC	0.313000														110			9		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128471362	128471362	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128471362G>A	uc002tpg.2	-	17	3302	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1035					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTCCTCGCCCCTCAAAT	0.617000														487			98		0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900639	202900639	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202900639C>T	uc002uyw.1	+	0	1330	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	423					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGCGGGGCTTCGTGCTGG	0.617000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		193			54		0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000926	128000926	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128000926C>T	uc004bpn.3	-	5	1438	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	393					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	TACGCTACAGCTTCATCTGGG	0.473000										Prostate(1;0.17)				117			24		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584976	7584976	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584976G>A	uc002mgn.2	+	1	1018	c.848G>A	c.(847-849)cGc>cAc	p.R283H	ZNF358_uc021unu.1_Missense_Mutation_p.R283H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	283					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AAACACCTGCGCACGCACACG	0.731000														61			13		0	0	1	0	0
GPR143	4935	broad.mit.edu	37	X	9728834	9728834	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9728834A>G	uc004cst.2	-	1	431	c.283T>C	c.(283-285)Ttc>Ctc	p.F95L		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	95					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	Golgi apparatus|apical plasma membrane|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	L-DOPA receptor activity|dopamine binding|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAATTTGGGAATCCTAACCAC	0.473000														16			4		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90455062	90455062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90455062G>A	uc003pnn.1	-	28	4224	c.4108C>T	c.(4108-4110)Cgg>Tgg	p.R1370W		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	1370					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCGAGTCTCCGCATGCCCTCA	0.453000														138			35		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34532995	34532995	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34532995T>C	uc001zhw.3	-	17	2467	c.2303A>G	c.(2302-2304)gAc>gGc	p.D768G	SLC12A6_uc001zhv.3_Missense_Mutation_p.D717G|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.D753G|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.D709G|SLC12A6_uc001zib.3_Missense_Mutation_p.D759G|SLC12A6_uc001zic.3_Missense_Mutation_p.D768G|SLC12A6_uc010bau.3_Missense_Mutation_p.D768G|SLC12A6_uc001zid.3_Missense_Mutation_p.D709G|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.D580G	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	768					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACATGTAAGTCTTCATCTAG	0.488000														62			15		0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670348	99670348	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99670348G>A	uc002bup.3	+	4	1900	c.1780G>A	c.(1780-1782)Ggt>Agt	p.G594S	SYNM_uc002buo.3_Missense_Mutation_p.G594S|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	595	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCCCCGAAAGGTTTGCAGAC	0.557000														95			21		0	0	1	0	0
DAXX	1616	broad.mit.edu	37	6	33288802	33288802	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33288802G>A	uc003oec.3	-	2	954	c.750C>T	c.(748-750)ggC>ggT	p.G250G	DAXX_uc021ywn.1_Silent_p.G250G|DAXX_uc021ywo.1_Silent_p.G250G|DAXX_uc011dre.2_Silent_p.G262G|DAXX_uc003oed.3_Silent_p.G250G|DAXX_uc011drd.2_Silent_p.G175G|DAXX_uc010juw.2_Silent_p.G175G	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	250					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.G250D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTATGACACGGCCGGTCAGTG	0.587000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM									151			33		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108381086	108381086	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108381086G>A	uc003dxd.3	+	20	2827	c.2405G>A	c.(2404-2406)gGa>gAa	p.G802E	DZIP3_uc003dxf.1_Missense_Mutation_p.G802E|DZIP3_uc011bhm.2_Missense_Mutation_p.G253E	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	802					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.G802E(2)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCTTTTGGAATCAATAAG	0.333000														24			4		0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12543223	12543223	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12543223T>G	uc002mtu.3	-	2	357	c.159A>C	c.(157-159)gaA>gaC	p.E53D		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	53	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATATTGATCTTCAATGTTCT	0.294000														43			6		0	0	1	0	0
DZIP1L	199221	broad.mit.edu	37	3	137787193	137787193	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137787193G>A	uc003erq.3	-	12	1995	c.1632C>T	c.(1630-1632)agC>agT	p.S544S		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	544						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TGACCAGTGTGCTCTGCTGGC	0.562000											OREG0015830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			27		0	0	1	0	0
RGS17	26575	broad.mit.edu	37	6	153365061	153365061	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153365061A>C	uc003qpm.3	-	1	249	c.93T>G	c.(91-93)tgT>tgG	p.C31W		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	Homo sapiens regulator of G-protein signaling 17 (RGS17), mRNA.	31	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAGCACCAACAAAAGCAAC	0.507000														207			47		0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6014299	6014299	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6014299C>A	uc003zjr.3	-	0	1342	c.1309G>T	c.(1309-1311)Gat>Tat	p.D437Y	RANBP6_uc011lmf.2_Missense_Mutation_p.D85Y|RANBP6_uc003zjs.3_Missense_Mutation_p.R65I	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	437					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GGTGCAAAATCTGTAGCCATC	0.418000														80			6		0.0215528	0.0217347	1	1	0
MIS18A	54069	broad.mit.edu	37	21	33642728	33642728	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642728C>A	uc002ypi.3	-	2	565	c.514G>T	c.(514-516)Gcc>Tcc	p.A172S		NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	Homo sapiens MIS18 kinetochore protein homolog A (S. pombe) (MIS18A), mRNA.	172					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm		p.E171K(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CTTTCAATGGCTTCAACACTG	0.413000														75			11		5.50884e-06	5.8131e-06	1	1	0
POFUT2	23275	broad.mit.edu	37	21	46703411	46703411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46703411G>A	uc002zhc.3	-	2	439	c.414C>T	c.(412-414)taC>taT	p.Y138Y	POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.Y138Y|POFUT2_uc011afp.1_Silent_p.Y138Y	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	138					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TTTGCAGGACGTAAACCTGGT	0.532000														246			81		0	0	1	0	0
CDK8	1024	broad.mit.edu	37	13	26828901	26828901	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:26828901A>C	uc001uqr.1	+	0	146	c.123A>C	c.(121-123)aaA>aaC	p.K41N	CDK8_uc001uqs.1_Missense_Mutation_p.K41N|CDK8_uc001uqt.1_5'UTR	NM_001260	NP_001251	P49336	CDK8_HUMAN	Homo sapiens cyclin-dependent kinase 8 (CDK8), mRNA.	41	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		CCAAGAGGAAAGATGGGTGAG	0.667000														55			6		0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10402269	10402269	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10402269C>T	uc002mnu.4	+	2	522	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	ICAM5_uc002mnv.4_Missense_Mutation_p.L28F	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	153	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCGTGCGAGCCTCACGCTGAC	0.721000														298			21		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003780	74003780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74003780C>T	uc010wss.1	-	21	5800	c.5572G>A	c.(5572-5574)Gac>Aac	p.D1858N	EVPL_uc002jqi.2_Missense_Mutation_p.D1836N|EVPL_uc010wst.1_Missense_Mutation_p.D1306N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1836	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CACTTGTTGTCTGTGGTTGTG	0.612000														394			26		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105174224	105174224	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105174224C>T	uc001ypb.2	+	7	1763	c.1620C>T	c.(1618-1620)gcC>gcT	p.A540A	INF2_uc001ypc.2_Silent_p.A540A|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	540					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCATCGTGGCCCAGGTGGACC	0.667000														82			22		0	0	1	0	0
CLCN6	1185	broad.mit.edu	37	1	11898394	11898394	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11898394C>T	uc001ate.4	+	20	2411	c.2298C>T	c.(2296-2298)agC>agT	p.S766S	CLCN6_uc010oat.2_Silent_p.S482S|CLCN6_uc010oau.2_Silent_p.S744S|CLCN6_uc010oba.1_5'Flank|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oaz.1_5'Flank	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	766					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|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;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AATTGCAGAGCGCCAGCCAGC	0.642000											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			11		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17874457	17874457	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17874457A>G	uc003stv.3	-	13	1604	c.1391T>C	c.(1390-1392)tTa>tCa	p.L464S	SNX13_uc010kuc.3_Missense_Mutation_p.L261S|SNX13_uc003stw.1_Missense_Mutation_p.L464S	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	464	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTGCTACTAAATAGTCATC	0.299000														38			5		0	0	1	0	0
FBXL21	26223	broad.mit.edu	37	5	135276936	135276936	+	RNA	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135276936A>T	uc021ydv.1	+	7		c.1363A>T			FBXL21_uc003lbc.3_Intron|FBXL21_uc021ydx.1_Non-coding_Transcript	NM_012159		Q9UKT6	FXL21_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 21 (gene/pseudogene) (FBXL21), mRNA.						rhythmic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			large_intestine(5)|lung(4)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTAGAGTTAATGTTGTTATG	0.363000														71			14		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58318538	58318538	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58318538C>T	uc002enf.3	-	5	1005	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	PRSS54_uc002eng.3_Missense_Mutation_p.E204K|PRSS54_uc010vie.2_Missense_Mutation_p.E105K	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	204	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CTGCCGCATTCTGTCTTCTGG	0.463000														125			32		0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7244459	7244459	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7244459G>A	uc009xio.2	-	12	1561	c.1470C>T	c.(1468-1470)gtC>gtT	p.V490V	SFMBT2_uc001ijn.2_Silent_p.V490V|SFMBT2_uc010qay.2_Intron	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	490					regulation of transcription, DNA-dependent	nucleus		p.V490V(2)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTTGCACGACTGCAATCT	0.398000														81			18		0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42876137	42876137	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42876137G>A	uc001uys.2	+	7	3430	c.3255G>A	c.(3253-3255)gtG>gtA	p.V1085V		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1085					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		GTTTGCATGTGGAAGATAAAC	0.428000														119			27		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49416497	49416497	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49416497C>T	uc001rta.4	-	50	16214	c.16214G>A	c.(16213-16215)cGt>cAt	p.R5405H		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5405	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCCTGGATACGGGAGCGAGC	0.562000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				209			41		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48701608	48701608	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48701608A>G	uc003xqi.3	-	76	10815	c.10758T>C	c.(10756-10758)gaT>gaC	p.D3586D	PRKDC_uc003xqj.3_Silent_p.D3586D	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3587					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CATTGCTCCAATCCTGTCAGG	0.343000								Non-homologous end-joining						60			16		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129373889	129373889	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129373889G>A	uc021xdy.1	-	4	2003	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	TMCC1_uc003emy.4_Silent_p.I199I|TMCC1_uc011blc.2_Silent_p.I344I|TMCC1_uc010htg.3_Silent_p.I409I	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	523						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						TCAAGTTCAAGATTTCATTCT	0.403000														90			31		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313231	54313231	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54313231C>T	uc002qcj.4	-	2	1902	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R561H|NLRP12_uc002qci.4_Missense_Mutation_p.R561H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R561H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	561					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAACAGGAAGCGGCTGGTGAG	0.612000														237			38		0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729129	66729129	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66729129A>C	uc010bhq.3	+	2	812	c.337A>C	c.(337-339)Agg>Cgg	p.R113R	MAP2K1_uc010ujp.2_Silent_p.R91R	NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	113	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						CCAGATCATAAGGGAGCTGCA	0.488000														113			21		0	0	1	0	0
CERS4	79603	broad.mit.edu	37	19	8321538	8321538	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8321538G>T	uc002mjg.3	+	7	876	c.556G>T	c.(556-558)Gag>Tag	p.E186*	CERS4_uc002mji.3_Nonsense_Mutation_p.E22*|CERS4_uc010dvz.3_Nonsense_Mutation_p.E186*	NM_024552	NP_078828	Q9HA82	CERS4_HUMAN	Homo sapiens ceramide synthase 4 (CERS4), mRNA.	186	TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										GTACCTCTTGGAGCTGGGTTT	0.567000														150			39		5.44703e-19	6.60141e-19	1	1	0
SMG1	23049	broad.mit.edu	37	16	18823443	18823443	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18823443C>T	uc002dfm.3	-	60	10991	c.10628G>A	c.(10627-10629)cGg>cAg	p.R3543Q	SMG1_uc010bwb.3_Missense_Mutation_p.R3403Q|SMG1_uc010bwa.3_Missense_Mutation_p.R2274Q|SMG1_uc021tec.1_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3543					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGTTACTCCGGACTGCTAC	0.473000														73			17		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682321	31682321	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682321G>T	uc011kae.2	+	10	1427	c.1415G>T	c.(1414-1416)aGt>aTt	p.S472I	CCDC129_uc011kad.1_Missense_Mutation_p.S456I|CCDC129_uc003tcj.1_Missense_Mutation_p.S446I|CCDC129_uc003tci.1_Missense_Mutation_p.S297I|CCDC129_uc003tck.1_Missense_Mutation_p.S354I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	446										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AACAGCCAGAGTCCTGCTGAG	0.493000														83			11		1.58986e-06	1.69271e-06	1	1	0
C5orf45	51149	broad.mit.edu	37	5	179275064	179275064	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179275064A>C	uc003mla.3	-	2	173	c.129T>G	c.(127-129)gcT>gcG	p.A43A	C5orf45_uc003mky.2_Silent_p.A40A|C5orf45_uc011dgt.1_Silent_p.A43A|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Intron|C5orf45_uc003mlb.3_Intron	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	43										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CTTCACCATAAGCCTGAGAAA	0.423000														116			34		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113538718	113538718	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113538718G>A	uc003iau.3	-	5	2691	c.2480C>T	c.(2479-2481)tCt>tTt	p.S827F	C4orf21_uc003iaw.3_Missense_Mutation_p.S827F	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	827										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTTAAAATAGAAATGGTATT	0.378000														52			15		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179983348	179983348	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179983348A>G	uc001gnt.3	+	9	2143	c.1760A>G	c.(1759-1761)aAa>aGa	p.K587R	CEP350_uc009wxl.2_Missense_Mutation_p.K586R|CEP350_uc001gnu.3_Missense_Mutation_p.K421R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	587						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						GTTATTTCCAAAAGGCGCCAC	0.443000														18			7		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11106656	11106656	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11106656G>A	uc001aru.3	-	2	401	c.369C>T	c.(367-369)aaC>aaT	p.N123N	MASP2_uc001arv.3_Silent_p.N123N|MASP2_uc001arw.3_Silent_p.N123N|MASP2_uc001arx.2_Silent_p.N123N	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	123	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		ACGGCTTCTCGTTGGAGTAGT	0.627000														80			10		0	0	1	0	0
FAM75A2	642265	broad.mit.edu	37	9	39887020	39887020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39887020C>T	uc004abp.3	+	2	291	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	88						integral to membrane		p.R88R(2)		lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAGAGAGTGCCGGAGAGGCCT	0.602000														273			35		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7717276	7717276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7717276G>A	uc003jdz.1	+	11	1696	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K	ADCY2_uc011cmo.1_Silent_p.K363K	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATAGAACCAAGTCACAAAAGA	0.264000														87			9		0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31355162	31355162	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31355162G>T	uc001wqr.2	+	10	1201	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	COCH_uc001wqp.2_Missense_Mutation_p.G374V|COCH_uc001wqq.4_Missense_Mutation_p.G374V|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.G225V	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	374	VWFA 2.				sensory perception of sound	proteinaceous extracellular matrix		p.D373E(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTAATTGATGGCTCCAGCAGT	0.423000														89			15		4.93089e-13	5.72934e-13	1	1	0
ANKRD30A	91074	broad.mit.edu	37	10	37441021	37441021	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:37441021A>G	uc021ppc.1	+	11	1610	c.1511A>G	c.(1510-1512)gAc>gGc	p.D504G	ANKRD30A_uc001iza.1_Missense_Mutation_p.D504G	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	560						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K503N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAACAAAAGGACTATGAAGAA	0.299000														61			12		0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94554837	94554837	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94554837G>A	uc001pfb.3	+	3	1433	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	AMOTL1_uc001pfc.3_Silent_p.P371P	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	421						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACAGCCCCCGCCTGCCGCCT	0.647000														98			22		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26806166	26806166	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26806166G>T	uc001zbb.3	-	8	1264	c.1161C>A	c.(1159-1161)ttC>ttA	p.F387L	GABRB3_uc021sgg.1_Missense_Mutation_p.F260L|GABRB3_uc021sgh.1_Missense_Mutation_p.F246L|GABRB3_uc001zaz.3_Missense_Mutation_p.F331L|GABRB3_uc001zba.3_Missense_Mutation_p.F331L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	331					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.D387N(1)|p.G386G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTCTTCCAAAGAAAATGTAGT	0.483000														174			35		3.90053e-15	4.60698e-15	1	1	0
BCAT1	586	broad.mit.edu	37	12	25031471	25031471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25031471C>T	uc001rgd.4	-	4	1030	c.503G>A	c.(502-504)gGa>gAa	p.G168E	BCAT1_uc001rgc.3_Missense_Mutation_p.G167E|BCAT1_uc010six.2_Missense_Mutation_p.G180E|BCAT1_uc010siy.2_Missense_Mutation_p.G131E|BCAT1_uc001rge.4_Missense_Mutation_p.G107E	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	168					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CACCTCAGTTCCAATGAATGT	0.378000														30			3		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77042743	77042743	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77042743G>T	uc002jwt.3	+	1	638	c.556G>T	c.(556-558)Gcc>Tcc	p.A186S	C1QTNF1_uc002jwp.3_Missense_Mutation_p.A88S|C1QTNF1_uc002jwq.3_Missense_Mutation_p.A6S|C1QTNF1_uc002jwr.4_Missense_Mutation_p.A98S|C1QTNF1_uc002jws.3_Missense_Mutation_p.A88S	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	88	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCGGCGACCGCCGTGCCCCA	0.597000											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		238			49		3.40686e-48	4.34593e-48	1	1	0
CHRM3	1131	broad.mit.edu	37	1	240070910	240070910	+	Silent	SNP	C	T	T	rs149077005	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070910C>T	uc021plc.1	+	0	159	c.159C>T	c.(157-159)gaC>gaT	p.D53D	CHRM3_uc001hyp.3_Silent_p.D53D	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	53					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCTCCAGACGGTACCACCG	0.572000														170			44		0	0	1	0	0
ESF1	51575	broad.mit.edu	37	20	13695780	13695780	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13695780T>G	uc002woj.3	-	13	2405	c.2297A>C	c.(2296-2298)tAc>tCc	p.Y766S		NM_016649	NP_057733	Q9H501	ESF1_HUMAN	Homo sapiens ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae) (ESF1), mRNA.	766	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTGGGAAGTGTACATTGCCTG	0.363000														103			22		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39684192	39684192	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39684192G>A	uc002hxd.4	-	0	450	c.308C>T	c.(307-309)gCg>gTg	p.A103V	JUP_uc010wfs.2_Intron	NM_002276	NP_002267	P14923	PLAK_HUMAN	Homo sapiens keratin 19 (KRT19), mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCCGTTGGCCGCCTCCAGGGC	0.657000														281			60		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215990410	215990410	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215990410G>A	uc001hku.1	-	47	9886	c.9499C>T	c.(9499-9501)Ctc>Ttc	p.L3167F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3167	Fibronectin type-III 18.				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)		GCCTTGCAGAGCTCATCACTC	0.413000										HNSCC(13;0.011)				185			9		0	0	1	0	0
C2orf18	54978	broad.mit.edu	37	2	27000925	27000925	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27000925T>G	uc002rhp.1	+	5	738	c.662T>G	c.(661-663)gTg>gGg	p.V221G	C2orf18_uc002rhq.1_Missense_Mutation_p.V138G|C2orf18_uc010eyo.1_Missense_Mutation_p.V168G|C2orf18_uc010ylc.1_Missense_Mutation_p.V74G	NM_017877	NP_060347	Q8N357	CB018_HUMAN	Homo sapiens chromosome 2 open reading frame 18 (C2orf18), mRNA.	221						integral to membrane|lysosomal membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGCTTTGTGATCCTCTCC	0.607000														143			44		0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17122372	17122372	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17122372C>T	uc002gra.4	-	8	1527	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R	PLD6_uc010cpn.3_Intron	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	341					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CTGGCAGCTTCCGGGGCTGCC	0.652000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome					245			62		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379592	45379592	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45379592G>T	uc002zdx.3	+	3	956	c.291G>T	c.(289-291)caG>caT	p.Q97H	AGPAT3_uc002zdv.3_Missense_Mutation_p.Q10H|AGPAT3_uc002zdw.3_Missense_Mutation_p.Q10H|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	10					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGAAGACCCAGTTCGTGCTGC	0.642000														203			64		8.52622e-23	1.0525e-22	1	1	0
ACAN	176	broad.mit.edu	37	15	89400789	89400789	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400789C>T	uc010upo.1	+	11	5347	c.4973C>T	c.(4972-4974)aCt>aTt	p.T1658I	ACAN_uc010upp.1_Missense_Mutation_p.T1658I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1658					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGATTCCCAACTGTTTCCCTA	0.532000														202			40		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51517735	51517735	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51517735C>A	uc003dbe.2	-	3	295	c.110_splice	c.e3+1	p.R37_splice	VPRBP_uc021wys.1_Splice_Site_p.R37_splice|VPRBP_uc003dbg.2_Splice_Site_p.R37_splice	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	37					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTATTCATACCTGGTAAGGAT	0.443000														125			37		4.62619e-21	5.66726e-21	1	1	0
INSRR	3645	broad.mit.edu	37	1	156819222	156819222	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156819222C>T	uc010pht.2	-	5	1559	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	420					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTTGTAGGTTCTGGTTGTCCA	0.622000														275			12		0	0	1	0	0
HAUS6	54801	broad.mit.edu	37	9	19089409	19089409	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19089409C>A	uc003znk.3	-	5	837	c.584_splice	c.e5+1	p.Q195_splice	HAUS6_uc022bdv.1_Splice_Site_p.Q59_splice|HAUS6_uc003znl.1_Splice_Site_p.Q59_splice	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	195					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTACTACTTACTGTGCATTTT	0.348000														39			7		8.12818e-05	8.44191e-05	1	1	0
NDRG4	65009	broad.mit.edu	37	16	58545414	58545414	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58545414C>A	uc002enm.3	+	15	1451	c.1110C>A	c.(1108-1110)gcC>gcA	p.A370A	NDRG4_uc002enk.3_Silent_p.A350A|NDRG4_uc010vif.2_Silent_p.A350A|NDRG4_uc002eno.3_Silent_p.A331A|NDRG4_uc010cdk.3_Silent_p.A336A|NDRG4_uc010vig.2_Silent_p.A348A|NDRG4_uc010vih.2_Silent_p.A263A|NDRG4_uc010vii.2_Silent_p.A336A|NDRG4_uc002enp.3_Silent_p.A318A|NDRG4_uc002enq.1_Intron	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	331					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GCCCACAGGCCTGCACCCACT	0.667000														182			53		4.25531e-23	5.26244e-23	1	1	0
NOD2	64127	broad.mit.edu	37	16	50746021	50746021	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50746021G>A	uc002egm.1	+	3	2304	c.2199G>A	c.(2197-2199)gtG>gtA	p.V733V	NOD2_uc021tia.1_Silent_p.V565V|NOD2_uc010cbk.1_Silent_p.V706V|NOD2_uc002egl.1_Silent_p.V511V|NOD2_uc010cbl.1_Silent_p.V511V|NOD2_uc010cbm.1_Silent_p.V511V|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	733					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.S732S(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAAGAGCGTGCATGCCATGC	0.677000														161			28		0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	6903438	6903438	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:6903438T>G	uc003bqm.2	+	0	637	c.363T>G	c.(361-363)acT>acG	p.T121T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.T121T|GRM7_uc003bql.2_Silent_p.T121T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	121					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGTCGCTTACTTTCGTCCAGG	0.582000														113			28		0	0	1	0	0
EVX1	2128	broad.mit.edu	37	7	27284774	27284774	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27284774G>A	uc003szd.1	+	1	1021	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Silent_p.A160A	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						GGCGTGCAGCGCCAGTGACCA	0.672000														177			44		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64669563	64669563	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64669563G>A	uc001obx.3	-	28	4105	c.3990C>T	c.(3988-3990)gtC>gtT	p.V1330V	ATG2A_uc001obw.3_Silent_p.V95V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1330							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CAGGGCCCCCGACAGGTGGTG	0.612000														215			48		0	0	1	0	0
KIRREL3	84623	broad.mit.edu	37	11	126294877	126294877	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126294877C>T	uc001qea.3	-	16	2296	c.1935G>A	c.(1933-1935)gaG>gaA	p.E645E	KIRREL3_uc001qeb.3_Silent_p.E633E|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	645					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TTGAGTGGTGCTCTTTGAAGG	0.617000														32			7		0	0	1	0	0
RORA	6095	broad.mit.edu	37	15	60803641	60803641	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60803641T>C	uc002agv.3	-	5	859	c.703A>G	c.(703-705)Aac>Gac	p.N235D	BC035094_uc002ags.1_Intron|RORA_uc002agt.4_Missense_Mutation_p.N147D|RORA_uc021sni.1_Missense_Mutation_p.N146D|RORA_uc002agw.3_Missense_Mutation_p.N227D|RORA_uc002agx.3_Missense_Mutation_p.N202D	NM_134260	NP_599022	P35398	RORA_HUMAN	Homo sapiens RAR-related orphan receptor A (RORA), transcript variant 2, mRNA.	235	Hinge.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCAATGTAGTTACTGAGGTCG	0.612000														274			24		0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688339	128688339	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128688339C>T	uc003ifl.3	+	3	743	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	199					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TCATTGTGTACCGAGCCTCTT	0.358000														166			24		0	0	1	0	0
DDX28	55794	broad.mit.edu	37	16	68055940	68055940	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68055940T>C	uc002evh.2	-	0	1831	c.1166A>G	c.(1165-1167)gAc>gGc	p.D389G	DUS2L_uc002evi.3_5'Flank|DUS2L_uc002evj.3_5'Flank|DUS2L_uc010vkk.2_5'Flank	NM_018380	NP_060850	Q9NUL7	DDX28_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 (DDX28), nuclear gene encoding mitochondrial protein, mRNA.	389	Helicase C-terminal.					mitochondrial nucleoid|nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233)		TTCTGCTCTGTCACGATGCTT	0.493000														127			40		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143691407	143691407	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143691407G>A	uc003evo.3	+	0	768	c.233G>A	c.(232-234)gGc>gAc	p.G78D	C3orf58_uc011bnl.2_5'Flank	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	78						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGGCGTGGGGCCGCTTGCGC	0.682000														159			33		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28605830	28605830	+	Missense_Mutation	SNP	G	A	A	rs137869359		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28605830G>A	uc002kwj.4	-	4	681	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	DSC3_uc002kwi.4_Missense_Mutation_p.R176C	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	176	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCAACTCCACGTCCACTTATT	0.313000														50			9		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689644	7689644	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7689644A>C	uc002giu.1	+	38	6346	c.6332A>C	c.(6331-6333)aAc>aCc	p.N2111T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2111	AAA 2 (By similarity).				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)				GGAGACCCTAACTTCAACATT	0.597000														109			9		0	0	1	0	0
TMEM63B	55362	broad.mit.edu	37	6	44116249	44116249	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44116249G>T	uc003owr.3	+	14	1186	c.1122_splice	c.e14-1	p.I374_splice	TMEM63B_uc003owq.1_Splice_Site_p.I374_splice|TMEM63B_uc003ows.3_Splice_Site_p.I277_splice|TMEM63B_uc010jyz.3_Splice_Site	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	374						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CATCTTTCTAGCATCCTGAAG	0.622000														227			35		2.05212e-20	2.50602e-20	1	1	0
NCOA5	57727	broad.mit.edu	37	20	44699120	44699120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44699120G>A	uc002xrd.3	-	1	622	c.94C>T	c.(94-96)Cga>Tga	p.R32*	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Nonsense_Mutation_p.R32*	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	32	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity	p.R32*(2)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GGACTTCCTCGAATTGGGGAT	0.532000														214			61		0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235359427	235359427	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235359427G>A	uc021pks.1	-	17	2222	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ARID4B_uc001hwq.3_Silent_p.Y615Y|ARID4B_uc001hwr.3_Silent_p.Y529Y|ARID4B_uc001hws.4_Silent_p.Y529Y|RBM34_uc001hwp.3_5'Flank|ARID4B_uc001hwt.4_Silent_p.Y296Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCATTCATCGTATCTAAAAT	0.274000														69			12		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058443	5058443	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5058443G>T	uc002cye.2	+	13	1774	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	532	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATCCTGGAAGGAGAGTCGGT	0.647000														77			19		3.32936e-07	3.57961e-07	1	1	0
KCNN1	3780	broad.mit.edu	37	19	18092875	18092875	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18092875C>A	uc002nht.3	+	4	1166	c.856C>A	c.(856-858)Ctg>Atg	p.L286M	KCNN1_uc010xqa.1_Missense_Mutation_p.L286M	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	286					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CGGCACCGTGCTGCTGGTCTT	0.667000														17			10		7.48243e-07	8.00842e-07	1	1	0
ATN1	1822	broad.mit.edu	37	12	7045981	7045981	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045981C>T	uc001qrw.1	+	4	1788	c.1551C>T	c.(1549-1551)caC>caT	p.H517H	ATN1_uc001qrx.1_Silent_p.H517H	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	517	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CATTTCCCCACCCACTGGAGG	0.657000														282			59		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106877921	106877921	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106877921G>A	uc021ser.1	-	409		c.13004C>T								Parts of antibodies, mostly variable regions.																		AGCTGGGACAGGACCCCTGTG	0.592000														142			22		0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304439	304439	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:304439C>T	uc002cgf.3	+	2	222	c.27C>T	c.(25-27)gcC>gcT	p.A9A	LUC7L_uc021szo.1_Intron|ITFG3_uc010bqr.2_Intron|ITFG3_uc002cgg.2_Silent_p.A9A|ITFG3_uc010uud.1_Non-coding_Transcript|ITFG3_uc002cgh.3_Silent_p.A9A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	9						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)				ACTTAGAGGCCGAAATCCACC	0.493000											OREG0003695	type=REGULATORY REGION|Gene=C16orf9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		466			51		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	66879090	66879090	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:66879090A>G	uc001vik.3	-	4	4103	c.3411T>C	c.(3409-3411)ggT>ggC	p.G1137G	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Silent_p.G1103G|PCDH9_uc010thl.2_Silent_p.G1095G	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1137					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATCAGAGTGACCCAAAACCA	0.488000														92			13		0	0	1	0	0
GBA2	57704	broad.mit.edu	37	9	35740847	35740847	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35740847G>A	uc011lpd.2	-	5	1518	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M	GBA2_uc003zxw.3_Missense_Mutation_p.T334M|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.T334M|GBA2_uc011lpc.1_Missense_Mutation_p.T334M|GBA2_uc003zxy.1_Missense_Mutation_p.T47M	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	334					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CACAGCCATCGTGTAGGGGTT	0.602000														107			23		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239161903	239161903	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239161903G>A	uc002vyc.3	-	18	2998	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	PER2_uc010znv.1_Missense_Mutation_p.P921S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	921	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAGGCCTGGGGCAGGTTTGGG	0.627000														181			39		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2064720	2064720	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2064720T>C	uc001qjx.1	-	5	609	c.529A>G	c.(529-531)Acc>Gcc	p.T177A	DCP1B_uc010sdy.1_Missense_Mutation_p.T75A	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	177					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TCAGAACAGGTTTTACACTGA	0.353000														142			22		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30359125	30359125	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30359125T>G	uc002ymr.2	-	1	324	c.311A>C	c.(310-312)gAc>gCc	p.D104A	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	58							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TACAAGACTGTCAATTTCTTC	0.383000														90			26		0	0	1	0	0
CYP17A1	1586	broad.mit.edu	37	10	104594579	104594579	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104594579C>A	uc001kwg.3	-	2	801	c.629G>T	c.(628-630)aGc>aTc	p.S210I		NM_000102	NP_000093	P05093	CP17A_HUMAN	Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA.	210					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)	GCTGTCTTTGCTCAGGTTGTC	0.483000											OREG0020487	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		122			29		1.38267e-23	1.71352e-23	1	1	0
TRIM45	80263	broad.mit.edu	37	1	117658224	117658224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117658224C>A	uc001egz.2	-	3	2028	c.1440G>T	c.(1438-1440)tgG>tgT	p.W480C	TRIM45_uc009whe.2_Missense_Mutation_p.W462C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	480						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TGATGCAGACCCACACAGTAT	0.488000														129			9		3.86212e-05	4.026e-05	1	1	0
GLI1	2735	broad.mit.edu	37	12	57859671	57859671	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57859671G>A	uc001snx.3	+	6	819	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	GLI1_uc021qzi.1_Missense_Mutation_p.C201Y|GLI1_uc009zpq.3_Missense_Mutation_p.C114Y	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	242					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGGGATGGCTGCAGCCAGGAA	0.567000														109			32		0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21720670	21720670	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21720670C>T	uc002nqd.1	+	3	1952	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R604Q(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TTAATCGGTCCTCAAGACTTA	0.373000														89			27		0	0	1	0	0
UTS2D	257313	broad.mit.edu	37	3	190993101	190993101	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190993101T>C	uc003fsu.3	-	7	1061	c.274A>G	c.(274-276)Aag>Gag	p.K92E		NM_198152	NP_937795	Q765I0	UTS2B_HUMAN	Homo sapiens urotensin 2 domain containing (UTS2D), mRNA.	92						extracellular region	hormone activity	p.K92N(1)		lung(5)|skin(1)|stomach(2)	8	all_cancers(143;1.77e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000214)		TCAGAATCCTTCTCCTCCACT	0.393000														166			43		0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53474011	53474011	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53474011C>A	uc002qan.4	-	3		c.490G>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		ACTTGCTTGTCTTTGCAATGT	0.393000														100			16		2.32078e-09	2.57599e-09	1	1	0
CDC73	79577	broad.mit.edu	37	1	193117091	193117091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193117091C>T	uc001gtb.3	+	7	1067	c.824C>T	c.(823-825)cCt>cTt	p.P275L		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	275					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AATGCAGCACCTGTGGTAAGA	0.383000														55			11		0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33579114	33579114	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33579114T>C	uc001rll.1	-	1	765	c.468A>G	c.(466-468)gcA>gcG	p.A156A	SYT10_uc009zju.1_5'UTR	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	156						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGCACACGTGCATGTTTAA	0.413000														267			57		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534289	92534289	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534289T>G	uc001pdj.4	+	8	8127	c.8110T>G	c.(8110-8112)Ttc>Gtc	p.F2704V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2704	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTGAAACGTTCTTGCCATC	0.473000										TCGA Ovarian(4;0.039)				63			10		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37268381	37268381	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37268381A>G	uc002rpp.1	-	18	2847	c.2751T>C	c.(2749-2751)ggT>ggC	p.G917G		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	917							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GATGCAAACAACCAAGAGCCA	0.428000														118			33		0	0	1	0	0
CMIP	80790	broad.mit.edu	37	16	81739151	81739151	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81739151C>T	uc002fgp.3	+	18	2211	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CMIP_uc002fgq.2_Silent_p.L619L|CMIP_uc010vnq.2_Silent_p.L526L|CMIP_uc002fgr.2_Silent_p.L560L	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	679						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TCACCATGCTCCAGGTGCTGA	0.652000														41			12		0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73409160	73409160	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73409160G>T	uc002avm.4	+	1	602	c.410G>T	c.(409-411)gGa>gTa	p.G137V	NEO1_uc010ukx.2_Missense_Mutation_p.G137V|NEO1_uc010uky.2_Missense_Mutation_p.G137V|NEO1_uc002avn.4_Missense_Mutation_p.G137V|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	137	Ig-like C2-type 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GAGAGTCTTGGAACTATTATC	0.343000														120			19		4.96729e-08	5.40616e-08	1	1	0
SACS	26278	broad.mit.edu	37	13	23910802	23910802	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23910802C>A	uc001uon.2	-	9	7802	c.7213G>T	c.(7213-7215)Gaa>Taa	p.E2405*	SACS_uc001uoo.2_Nonsense_Mutation_p.E2258*|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2405					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATAGATTCCAAAACAAGA	0.363000														49			9		3.09899e-07	3.33423e-07	1	1	0
CYP2B6	1555	broad.mit.edu	37	19	41509980	41509980	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41509980G>T	uc002opr.1	+	1	253	c.246G>T	c.(244-246)gaG>gaT	p.E82D	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.E42D	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	82					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)	GTGGAGTAGAGGCCATACGGG	0.587000														195			52		6.7651e-33	8.54411e-33	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62195237	62195237	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62195237C>T	uc002yfm.2	-	8	5830	c.4938G>A	c.(4936-4938)gcG>gcA	p.A1646A	PRIC285_uc002yfl.1_Silent_p.A1077A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1646					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			AGCGGCCGAACGCCGAGCGCT	0.687000														47			9		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90895964	90895964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90895964C>T	uc003ula.3	+	0	2182	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	590					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCGGAGGCGCCCCGCCGCAC	0.647000														147			29		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328690	57328690	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328690C>T	uc002qnu.2	-	6	1471	c.1120G>A	c.(1120-1122)Ggc>Agc	p.G374S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G345S|PEG3_uc002qnv.2_Missense_Mutation_p.G374S|PEG3_uc002qnw.2_Missense_Mutation_p.G250S|PEG3_uc002qnx.2_Missense_Mutation_p.G248S|PEG3_uc010etr.2_Missense_Mutation_p.G374S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	374					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACCTAAAGCCTCCCCTAAAT	0.438000														170			31		0	0	1	0	0
MYL6	4637	broad.mit.edu	37	12	56552389	56552389	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56552389G>T	uc010sqd.2	+	0	244	c.204G>T	c.(202-204)tgG>tgT	p.W68C	MYL6_uc001sjw.2_Intron|MYL6_uc001sjx.2_Intron|MYL6_uc010sqe.2_Intron	NM_079423	NP_524147	P60660	MYL6_HUMAN	Homo sapiens myosin, light chain 6, alkali, smooth muscle and non-muscle (MYL6), transcript variant 2, mRNA.	0					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			AGAGTTTGTGGGTCAGAGTTT	0.567000														186			43		1.52319e-26	1.90459e-26	1	1	0
ARHGAP19	84986	broad.mit.edu	37	10	98989630	98989630	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98989630C>T	uc001knb.3	-	10	1331	c.1285_splice	c.e10-1	p.R429_splice	ARHGAP19_uc001kmy.3_Splice_Site|ARHGAP19_uc001kna.3_Splice_Site_p.R420_splice|ARHGAP19_uc009xvj.3_Splice_Site_p.R400_splice|ARHGAP19_uc009xvi.3_Splice_Site|ARHGAP19_uc009xvk.3_Splice_Site_p.R223_splice	NM_032900	NP_116289	Q14CB8	RHG19_HUMAN	Homo sapiens Rho GTPase activating protein 19 (ARHGAP19), transcript variant 1, mRNA.	429					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1)	13		Colorectal(252;0.0854)		Epithelial(162;7.65e-09)|all cancers(201;4.49e-07)		CAGGACCTTCCGCTGATTTAA	0.383000														83			23		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14547207	14547207	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14547207G>A	uc021wtn.1	-	21	2777	c.2777C>T	c.(2776-2778)cCc>cTc	p.P926L	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	830					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGTCCTCCGGGGCTCGGTGGG	0.682000														21			6		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38834380	38834380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38834380C>T	uc021yzh.1	+	45	6621	c.6512C>T	c.(6511-6513)gCt>gTt	p.A2171V	DNAH8_uc003ooe.2_Missense_Mutation_p.A1954V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTGGATATGCTGGGCGCCAG	0.318000														30			8		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42035217	42035217	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42035217A>G	uc010ucy.2	+	14	5240	c.5059A>G	c.(5059-5061)Act>Gct	p.T1687A	MGA_uc010ucz.2_Intron|MGA_uc010uda.1_Missense_Mutation_p.T303A	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1687	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TTCAACCATAACTCTTCCTGT	0.498000														89			11		0	0	1	0	0
EPOR	2057	broad.mit.edu	37	19	11492692	11492692	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11492692G>A	uc002mrj.2	-	2	476	c.341C>T	c.(340-342)aCg>aTg	p.T114M	EPOR_uc010xly.2_5'UTR|EPOR_uc002mrk.2_5'UTR|EPOR_uc010xlx.2_Non-coding_Transcript	NM_000121	NP_000112	P19235	EPOR_HUMAN	Homo sapiens erythropoietin receptor (EPOR), transcript variant 1, mRNA.	114						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GAAGCTCGACGTGTCGGCTGT	0.622000														131			47		0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962546	165962546	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:165962546A>G	uc003iqy.1	+	2	1492	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	TRIM60_uc010iqx.1_Missense_Mutation_p.N441S|TRIM60_uc021xty.1_Missense_Mutation_p.N441S	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	441	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TATACTTTTAACGATTGTTTC	0.343000														93			16		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34097143	34097143	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34097143G>T	uc002hjy.1	-	5	1049	c.790C>A	c.(790-792)Ctg>Atg	p.L264M	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	265					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGCGGCCCAGCCTCTTGTAG	0.701000														35			12		0.00185496	0.00189487	1	1	0
ANO8	57719	broad.mit.edu	37	19	17443792	17443792	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17443792G>A	uc002ngf.2	-	4	692	c.533C>T	c.(532-534)gCc>gTc	p.A178V	ANO8_uc010eap.2_Non-coding_Transcript|GTPBP3_uc010xpo.2_5'Flank	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	178						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						TCCCTGCTTGGCACGCAAATT	0.602000														115			25		0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650908	43650908	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43650908C>T	uc001jan.3	+	1	646	c.311C>T	c.(310-312)gCt>gTt	p.A104V	CSGALNACT2_uc001jam.1_Missense_Mutation_p.A104V	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	104					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AATGTAGGGGCTAATGGCATA	0.433000														71			13		0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49714060	49714060	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49714060G>A	uc010hkw.1	+	7	1163	c.763G>A	c.(763-765)Gat>Aat	p.D255N	APEH_uc003cxf.3_Missense_Mutation_p.D255N	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	255					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCCCCTGGAGATGCTGGTGT	0.607000														99			27		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32016203	32016203	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32016203A>G	uc003nzl.2	-	28	10178	c.9976T>C	c.(9976-9978)Ttc>Ctc	p.F3326L	TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3373	Fibronectin type-III 25.				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						AAGAGCAGGAACTTGTACTTG	0.687000														101			17		0	0	1	0	0
RRP8	23378	broad.mit.edu	37	11	6622562	6622562	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6622562C>T	uc001med.3	-	2	882	c.734G>A	c.(733-735)cGg>cAg	p.R245Q	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	245					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	S-adenosylmethionine-dependent methyltransferase activity|methylated histone residue binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCCATCCAGCCGCTGTGCCAT	0.607000														75			13		0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55706056	55706056	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55706056T>C	uc021tio.1	+	2	664	c.613T>C	c.(613-615)Tac>Cac	p.Y205H	SLC6A2_uc002eif.3_Missense_Mutation_p.Y205H|SLC6A2_uc002eig.3_Missense_Mutation_p.Y205H|SLC6A2_uc002eii.3_Missense_Mutation_p.Y100H	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	205					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GTACTCCAAGTACAAGTTCAC	0.567000														104			23		0	0	1	0	0
RASSF8	11228	broad.mit.edu	37	12	26217586	26217586	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26217586C>T	uc001rgx.3	+	2	485	c.259C>T	c.(259-261)Cga>Tga	p.R87*	RASSF8_uc001rgy.3_Nonsense_Mutation_p.R87*|RASSF8_uc001rgz.3_Nonsense_Mutation_p.R87*|RASSF8_uc009zjd.2_Nonsense_Mutation_p.R87*|RASSF8_uc009zje.2_Nonsense_Mutation_p.R87*	NM_001164748	NP_001158220	Q8NHQ8	RASF8_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 (RASSF8), transcript variant 3, mRNA.	87					signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					TCTCAGTGAGCGACCCACTTC	0.473000														195			47		0	0	1	0	0
FANCL	55120	broad.mit.edu	37	2	58386379	58386379	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:58386379T>C	uc002rzx.4	-	14	1732	c.1665_splice	c.e14+1		VRK2_uc010fcb.2_Intron|VRK2_uc002rzo.2_Intron|VRK2_uc002rzt.3_Intron|VRK2_uc002rzs.3_Intron|VRK2_uc002rzv.3_Intron|VRK2_uc010fcd.3_Intron|VRK2_uc002rzu.3_Intron|VRK2_uc010fcc.3_Intron|VRK2_uc002rzp.3_Intron|VRK2_uc010ypg.2_Intron|FANCL_uc002rzw.4_Splice_Site|FANCL_uc010fce.3_Splice_Site	NM_001114636	NP_001108108	Q9NW38	FANCL_HUMAN	Homo sapiens Fanconi anemia, complementation group L (FANCL), transcript variant 1, mRNA.						DNA repair	cytoplasm|nucleoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CGCAAAAACTTGATCTTGTAT	0.269000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					15			5		0	0	1	0	0
CHRNA2	1135	broad.mit.edu	37	8	27320801	27320801	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27320801C>T	uc010lur.3	-	5	1768	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	CHRNA2_uc011lal.2_Missense_Mutation_p.V372M|CHRNA2_uc010lus.3_Missense_Mutation_p.V189M	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	387						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	CAGAGCTCCACGGGTGGTGGG	0.682000														133			29		0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999004	46999004	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46999004A>C	uc001jec.3	+	2	259	c.124A>C	c.(124-126)Act>Cct	p.T42P	GPRIN2_uc021ppt.1_Missense_Mutation_p.T42P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	42										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCTCCGCAAGACTGCCAGCAG	0.701000														240			15		0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348375	90348375	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90348375C>T	uc002bop.4	-	3	1123	c.831G>A	c.(829-831)acG>acA	p.T277T		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	277	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.T277T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CCAGCAAGTACGTGGACATCT	0.567000														316			72		0	0	1	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331501	133331501	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133331501G>T	uc001ukx.2	-	1	467	c.400C>A	c.(400-402)Cca>Aca	p.P134T	ANKLE2_uc001uky.3_Missense_Mutation_p.P72T	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	134						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATCCTTTGTGGGTCCTGGCTG	0.483000														88			27		7.4402e-23	9.18701e-23	1	1	0
PARP10	84875	broad.mit.edu	37	8	145057668	145057668	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145057668C>A	uc003zal.4	-	7	2197	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	PARP10_uc003zak.4_Nonsense_Mutation_p.E394*|PARP10_uc011lku.2_Nonsense_Mutation_p.E709*|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Nonsense_Mutation_p.E688*	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	697	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTGGGGGCTCTTCTGCCTCC	0.667000														35			11		9.70103e-10	1.08264e-09	1	1	0
SLC17A6	57084	broad.mit.edu	37	11	22381043	22381043	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22381043C>A	uc001mqk.3	+	3	956	c.543C>A	c.(541-543)atC>atA	p.I181I		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	181					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GATGTGTCATCTTTGTCAGAA	0.408000														64			10		0.000673444	0.000690401	1	1	0
MED13L	23389	broad.mit.edu	37	12	116446921	116446921	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:116446921G>A	uc001tvw.3	-	9	1352	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	433					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ACTGCACAACGTTTTAAAAGC	0.383000														96			20		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133795814	133795814	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133795814C>T	uc001qgx.4	-	13	2085	c.1854G>A	c.(1852-1854)ccG>ccA	p.P618P	IGSF9B_uc001qgy.1_Silent_p.P460P	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	618	Fibronectin type-III 2.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TGAGGCACCTCGGTGGGGTGA	0.617000														34			8		0	0	1	0	0
FDPS	2224	broad.mit.edu	37	1	155289473	155289473	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155289473G>A	uc001fkc.2	+	8	1137	c.918G>A	c.(916-918)caG>caA	p.Q306Q	FDPS_uc021paw.1_Silent_p.Q240Q|FDPS_uc001fkd.2_Silent_p.Q240Q|FDPS_uc021pax.1_Silent_p.Q135Q|FDPS_uc001fke.2_Silent_p.Q306Q|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	306					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	AGTTCTTTCAGATTCAGGTAA	0.552000														185			42		0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67926689	67926689	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67926689G>A	uc003xxc.3	-	2	413	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F		NM_001013626	NP_001013648	Q7Z4L9	LRC67_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 42 (PPP1R42), mRNA.	90																	AATGACCTGAGGTTCTCTATA	0.284000														72			14		0	0	1	0	0
SNHG11	128439	broad.mit.edu	37	20	37076993	37076993	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37076993C>T	uc002xip.2	+	0		c.268C>T			SNHG11_uc002xiq.1_Intron|SNHG11_uc002xir.1_Non-coding_Transcript|SNHG11_uc002xis.1_Non-coding_Transcript|SNHG11_uc002xit.1_Intron|SNHG11_uc002xiu.1_Intron					Homo sapiens small nucleolar RNA, H/ACA box 39 (SNORA39), small nucleolar RNA.																		TGCTTAAATTCCCCTTGATGA	0.483000														33			12		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816999	43816999	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43816999G>A	uc001zrt.3	+	3	3795	c.3328G>A	c.(3328-3330)Ggc>Agc	p.G1110S		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1110						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGCCCACAGGCCCAATTCT	0.507000														147			26		0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211533008	211533008	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211533008G>A	uc010fur.3	+	35	4201	c.4119_splice	c.e35+1	p.Q1373_splice	CPS1_uc002vee.4_Splice_Site_p.Q1367_splice|CPS1_uc010fus.3_Splice_Site_p.Q916_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1367					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TAGGCATCCAGGTAAGTGGTT	0.473000														93			30		0	0	1	0	0
FAM120C	54954	broad.mit.edu	37	X	54185844	54185844	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54185844C>T	uc004dsz.4	-	1	988	c.905G>A	c.(904-906)gGc>gAc	p.G302D	FAM120C_uc011moh.2_Missense_Mutation_p.G302D	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	302										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCTCTTCAGGCCCAGCTGCTT	0.468000														82			26		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156501021	156501021	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156501021G>A	uc001fpf.3	-	32	4197	c.4122C>T	c.(4120-4122)gcC>gcT	p.A1374A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1374					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTATGATATCGGCCAACAGCT	0.592000														166			50		0	0	1	0	0
MED17	9440	broad.mit.edu	37	11	93529577	93529577	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93529577C>T	uc001pem.4	+	7	1288	c.1013_splice	c.e7-1	p.S338_splice		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	338					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TATAAATAGGCTTGCAGTTAT	0.333000														99			14		0	0	1	0	0
KIF21A	55605	broad.mit.edu	37	12	39713771	39713771	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:39713771G>T	uc001rly.3	-	27	4136	c.3716C>A	c.(3715-3717)tCt>tAt	p.S1239Y	KIF21A_uc001rlv.3_Missense_Mutation_p.S244Y|KIF21A_uc001rlw.3_Missense_Mutation_p.S556Y|KIF21A_uc001rlx.3_Missense_Mutation_p.S1226Y|KIF21A_uc001rlz.3_Missense_Mutation_p.S1203Y|KIF21A_uc010skl.2_Missense_Mutation_p.S1219Y|KIF21A_uc001rlu.3_5'UTR	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1239					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TGTTACAGGAGAAGGCTCTGG	0.338000														27			6		8.12818e-05	8.44191e-05	1	1	0
ATN1	1822	broad.mit.edu	37	12	7045789	7045789	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7045789C>A	uc001qrw.1	+	4	1596	c.1359C>A	c.(1357-1359)gcC>gcA	p.A453A	ATN1_uc001qrx.1_Silent_p.A453A|ATN1_uc001qry.1_Silent_p.A452A	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	453					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCCTCTTAGCCAACAGCAATG	0.622000														501			104		4.95785e-36	6.2846e-36	1	1	0
SNAPC1	6617	broad.mit.edu	37	14	62234006	62234006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62234006C>T	uc001xft.3	+	2	469	c.365C>T	c.(364-366)gCa>gTa	p.A122V		NM_003082	NP_003073	Q16533	SNPC1_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 1, 43kDa (SNAPC1), mRNA.	122	SNAPC3-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		CATTTTGATGCAGCTTATATT	0.348000														50			19		0	0	1	0	0
PQLC1	80148	broad.mit.edu	37	18	77679208	77679208	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77679208C>T	uc002lnl.2	-	4	756	c.584G>A	c.(583-585)cGc>cAc	p.R195H	PQLC1_uc010dre.2_Missense_Mutation_p.R112H|PQLC1_uc002lnk.2_Missense_Mutation_p.R177H|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	195	PQ-loop 2.					integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGACTGGTGGCGGTGGTTGCG	0.602000														99			21		0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131261625	131261625	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131261625G>T	uc011blq.2	-	14	1479	c.1369C>A	c.(1369-1371)Ctg>Atg	p.L457M	CPNE4_uc003eok.3_Missense_Mutation_p.L439M|CPNE4_uc003eol.3_Missense_Mutation_p.L457M|CPNE4_uc003eom.3_Missense_Mutation_p.L439M|CPNE4_uc003eoj.3_5'UTR	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	439	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						AGGATCAGCAGGATGAAGTAT	0.552000														95			31		5.77227e-19	6.99363e-19	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118727776	118727776	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118727776G>A	uc001ehk.2	-	0	73	c.5C>T	c.(4-6)gCa>gTa	p.A2V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCTTGGGTGCCATGCAAAG	0.552000														178			47		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538444	38538444	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38538444C>A	uc002yvz.3	+	32	4033	c.3928C>A	c.(3928-3930)Caa>Aaa	p.Q1310K	TTC3_uc011aee.1_Missense_Mutation_p.Q1000K|TTC3_uc002ywa.3_Missense_Mutation_p.Q1310K|TTC3_uc002ywb.3_Missense_Mutation_p.Q1310K|TTC3_uc010gnf.3_Missense_Mutation_p.Q1075K|TTC3_uc002ywc.3_Missense_Mutation_p.Q1000K|TTC3_uc002ywd.1_Missense_Mutation_p.Q374K	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1310					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTATTGGGCTCAATCCCATTT	0.453000														190			17		1.02788e-11	1.17486e-11	1	1	0
ZFP57	346171	broad.mit.edu	37	6	29640963	29640963	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29640963C>T	uc011dlw.2	-	3	1076	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	225					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding	p.S309F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGCTTCTGGCGATGGGTGTC	0.547000														271			54		0	0	1	0	0
LRRC37A2	474170	broad.mit.edu	37	17	45126874	45126874	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45126874C>T	uc010wkj.1	+	1	426	c.72C>T	c.(70-72)aaC>aaT	p.N24N	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1160						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TAGGCCAAAACCAGCAAAAAG	0.483000														211			54		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881887	18881887	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881887G>T	uc002guw.3	-	4	1259	c.1092C>A	c.(1090-1092)tcC>tcA	p.S364S	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	364										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GCTTCTCAGAGGAGATCTTGG	0.637000														153			27		9.04412e-07	9.6547e-07	1	1	0
USP32	84669	broad.mit.edu	37	17	58422960	58422960	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58422960A>G	uc002iyo.1	-	1	354	c.68T>C	c.(67-69)gTa>gCa	p.V23A	USP32_uc010wov.1_Missense_Mutation_p.V23A	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	23					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TTTTAGCTCTACATCTGTAAC	0.433000														111			27		0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850826	71850826	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71850826C>T	uc001ory.1	+	4	865	c.815C>T	c.(814-816)gCt>gTt	p.A272V	FOLR3_uc001orx.1_Missense_Mutation_p.A229V			P41439	FOLR3_HUMAN	Homo sapiens folate receptor 3 (gamma) (FOLR3), mRNA.	228					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	AAGTTCTATGCTGCGGCCATG	0.532000														91			12		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2160529	2160529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2160529G>A	uc002cos.1	-	14	4848	c.4639C>T	c.(4639-4641)Cgc>Tgc	p.R1547C	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1547C	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1547	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCCGCACGCGCCGCTTCACC	0.647000														224			64		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508536	49508536	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49508536G>A	uc002xvt.1	-	4	3060	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_uc002xvu.1_Silent_p.N905N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388000														208			16		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125530375	125530375	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125530375G>A	uc010flu.3	+	17	2898	c.2534_splice	c.e17-1	p.S845_splice	CNTNAP5_uc002tno.3_Splice_Site_p.S844_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	844	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCGGTTTCAGCTCCTTCAGA	0.458000														80			26		0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140627467	140627467	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627467T>G	uc003lje.3	+	0	2321	c.2321T>G	c.(2320-2322)aTt>aGt	p.I774S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	774					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCCCAAATATTGTAAGCCAG	0.443000														244			66		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828154	6828154	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828154G>A	uc002mfu.1	+	9	1092	c.995G>A	c.(994-996)cGa>cAa	p.R332Q	VAV1_uc010xjh.1_Missense_Mutation_p.R300Q|VAV1_uc010dva.1_Missense_Mutation_p.R332Q|VAV1_uc002mfv.1_Missense_Mutation_p.R277Q	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	332	DH.				T cell costimulation|apoptosis|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|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTATGCAGCGAGTTCTCAAA	0.552000														100			14		0	0	1	0	0
EGR4	1961	broad.mit.edu	37	2	73519155	73519155	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73519155G>A	uc010yrj.2	-	1	1275	c.1200C>T	c.(1198-1200)agC>agT	p.S400S	EGR4_uc010yrk.1_Silent_p.S399S	NM_001965	NP_001956	B7ZKU3	B7ZKU3_HUMAN	Homo sapiens early growth response 4 (EGR4), mRNA.	296						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGCCGTCGCCGCTACTCCCTC	0.701000														53			10		0	0	1	0	0
PPP1R12C	54776	broad.mit.edu	37	19	55607246	55607246	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55607246T>C	uc002qix.3	-	8	1232	c.1216A>G	c.(1216-1218)Aag>Gag	p.K406E	PPP1R12C_uc010yfs.2_Missense_Mutation_p.K332E|PPP1R12C_uc002qiy.3_Missense_Mutation_p.K406E|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	406						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACGGGACTCTTAGGGCTGGGG	0.632000														229			56		0	0	1	0	0
KDM5C	8242	broad.mit.edu	37	X	53245326	53245326	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53245326C>A	uc004drz.3	-	5	1244	c.711G>T	c.(709-711)caG>caT	p.Q237H	KDM5C_uc022bxe.1_Missense_Mutation_p.Q170H|KDM5C_uc004dsa.3_Missense_Mutation_p.Q236H	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	237					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCCCATAGATCTGTAGCTTTT	0.532000			"""N, F, S"""		clear cell renal carcinoma									136			31		1.88708e-17	2.26542e-17	1	1	0
NOS3	4846	broad.mit.edu	37	7	150696357	150696357	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696357C>A	uc003wif.3	+	8	1332	c.1036C>A	c.(1036-1038)Ctg>Atg	p.L346M	NOS3_uc011kuy.2_Missense_Mutation_p.L140M|NOS3_uc011kva.2_Missense_Mutation_p.L346M|NOS3_uc011kuz.2_Missense_Mutation_p.L346M|NOS3_uc011kvb.2_Missense_Mutation_p.L346M	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	346	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.G345S(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AATTGGGGGCCTGGAGTTCCC	0.637000														308			48		5.20006e-24	6.45208e-24	1	1	0
GFOD1	54438	broad.mit.edu	37	6	13365177	13365177	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13365177C>T	uc003nat.2	-	1	1718	c.971G>A	c.(970-972)cGc>cAc	p.R324H	GFOD1_uc021ylt.1_Missense_Mutation_p.R221H|GFOD1_uc003nas.2_Missense_Mutation_p.R221H	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	324						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATCCCACGTGCGCCGGTCGTC	0.672000														149			36		0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72557756	72557756	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72557756C>T	uc002auc.3	-	4	694	c.235G>A	c.(235-237)Gat>Aat	p.D79N	PARP6_uc002aua.3_5'UTR|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.D79N	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	79							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCACTTACATCGAGGAAGCTG	0.468000														97			9		0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233394759	233394759	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233394759C>T	uc002vsw.3	+	6	734	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229C|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	244					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CATCATCCGCCGCAAGCCCCT	0.612000														211			66		0	0	1	0	0
SNRPN	6638	broad.mit.edu	37	15	25222994	25222994	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25222994G>T	uc021sgb.1	+	5	1541	c.499G>T	c.(499-501)Gcc>Tcc	p.A167S	SNRPN_uc001ywp.1_Missense_Mutation_p.A164S|SNRPN_uc001ywq.1_Missense_Mutation_p.A164S|SNRPN_uc001ywr.1_Missense_Mutation_p.A164S|SNRPN_uc001yws.1_Missense_Mutation_p.A164S|SNRPN_uc001ywt.1_Missense_Mutation_p.A164S|SNRPN_uc001ywy.1_Missense_Mutation_p.A164S|SNRPN_uc001ywz.1_Non-coding_Transcript|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.A164S	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	164					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TATTGCTGGAGCCCCAACACA	0.597000									Prader-Willi syndrome					66			19		1.00905e-13	1.17906e-13	1	1	0
E2F4	1874	broad.mit.edu	37	16	67228615	67228615	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67228615G>T	uc002erz.3	+	5	603	c.540G>T	c.(538-540)caG>caT	p.Q180H		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	180	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		AGAAGTACCAGATTCACCTGA	0.562000														141			31		2.70662e-09	3.00119e-09	1	1	0
CGA	1081	broad.mit.edu	37	6	87796039	87796039	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87796039T>C	uc003plj.2	-	2	344	c.202A>G	c.(202-204)Aag>Gag	p.K68E	CGA_uc021zci.1_Missense_Mutation_p.K99E	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	68					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		ATCGTCTTCTTGGACCTTAGT	0.493000														220			50		0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66794186	66794186	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66794186C>A	uc002apv.3	-	4	551	c.486G>T	c.(484-486)aaG>aaT	p.K162N	RPL4_uc002apx.3_Missense_Mutation_p.K68N|RPL4_uc010ujq.2_Missense_Mutation_p.K162N|RPL4_uc010bhs.1_5'Flank	NM_000968	NP_000959	P36578	RL4_HUMAN	Homo sapiens ribosomal protein L4 (RPL4), mRNA.	162					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						CCTTGGTCTTCTTGTAGCCTT	0.388000														85			8		0.0381472	0.038366	1	1	0
PDPN	10630	broad.mit.edu	37	1	13940894	13940894	+	Missense_Mutation	SNP	C	T	T	rs142964620		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:13940894C>T	uc001avd.3	+	4	747	c.698C>T	c.(697-699)tCg>tTg	p.S233L	PDPN_uc001avc.3_Missense_Mutation_p.S233L|PDPN_uc009vob.3_Missense_Mutation_p.S115L|PDPN_uc009voc.3_Missense_Mutation_p.S115L|PDPN_uc001ave.3_Missense_Mutation_p.S115L|PDPN_uc001avf.3_Missense_Mutation_p.S115L	NM_006474	NP_001006625	Q86YL7	PDPN_HUMAN	Homo sapiens podoplanin (PDPN), transcript variant 1, mRNA.	157					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CGAAAAATGTCGGGAAGGTAC	0.418000														121			33		0	0	1	0	0
HERC3	8916	broad.mit.edu	37	4	89571092	89571092	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89571092G>A	uc003hrw.1	+	3	494	c.328G>A	c.(328-330)Gca>Aca	p.A110T	HERC3_uc003hrv.3_Missense_Mutation_p.A110T|HERC3_uc011cdn.1_5'UTR	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	110					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TTCTTGGGGTGCAGGGAGTGA	0.498000														183			41		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	335387	335387	+	Missense_Mutation	SNP	C	T	T	rs139827174	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:335387C>T	uc002cgn.1	+	10	1979	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.R291W|PDIA2_uc010bqt.1_Missense_Mutation_p.R136W	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	291					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GGCTGCGCACCGGGAGCTCCT	0.667000														86			22		0	0	1	0	0
SCARNA15	677778	broad.mit.edu	37	15	83424801	83424801	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83424801G>T	uc002bjc.3	+	0		c.105G>T								Homo sapiens small Cajal body-specific RNA 15 (SCARNA15), guide RNA.																		ATAAATTCAAGACCTACTTAT	0.353000														53			10		2.52707e-12	2.91184e-12	1	1	0
ARHGEF11	9826	broad.mit.edu	37	1	156928923	156928923	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156928923G>A	uc001fqo.3	-	14	2214	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	ARHGEF11_uc001fqn.3_Missense_Mutation_p.R432W|ARHGEF11_uc001fqp.1_5'Flank	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	392	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCGCTGTTCCGCAGGCGCGAG	0.577000														55			18		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493825	38493825	+	Missense_Mutation	SNP	C	T	T	rs143621762	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38493825C>T	uc010ive.1	-	13	2280	c.1948G>A	c.(1948-1950)Gac>Aac	p.D650N	LIFR_uc003jli.2_Missense_Mutation_p.D650N	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	650	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTGGGGTCGTAATGCCAG	0.438000			T	PLAG1	salivary adenoma									146			35		0	0	1	0	0
TAF1C	9013	broad.mit.edu	37	16	84215011	84215011	+	Missense_Mutation	SNP	G	A	A	rs140327311	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84215011G>A	uc002fhn.3	-	9	1407	c.1165C>T	c.(1165-1167)Cgt>Tgt	p.R389C	TAF1C_uc010vnz.2_Missense_Mutation_p.R57C|TAF1C_uc002fho.3_5'UTR|TAF1C_uc010voa.2_Missense_Mutation_p.R57C|TAF1C_uc002fhm.3_Missense_Mutation_p.R296C|TAF1C_uc010vnx.2_Missense_Mutation_p.R363C|TAF1C_uc010vny.2_5'UTR|TAF1C_uc010vob.2_3'UTR	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	389					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCTGCCCAACGCCACGAAGAG	0.652000														65			20		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074969	44074969	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44074969G>A	uc001mxw.1	+	7	1018	c.962G>A	c.(961-963)cGa>cAa	p.R321Q	ACCSL_uc009ykr.2_Missense_Mutation_p.R140Q	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	321							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						AAAAAGGTCCGAGGCCTTGTG	0.433000														92			22		0	0	1	0	0
PSMA6	5687	broad.mit.edu	37	14	35761742	35761742	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:35761742T>C	uc001wtd.3	+	0	169	c.60T>C	c.(58-60)ggT>ggC	p.G20G	KIAA0391_uc001wta.3_Intron|PSMA6_uc010tpt.2_5'UTR|PSMA6_uc010tpu.2_5'UTR	NM_002791	NP_002782	P60900	PSA6_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 6 (PSMA6), mRNA.	20					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|RNA binding|purine ribonucleoside triphosphate binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1)	10	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)		CACCCGAGGGTCGGCTCTACC	0.577000														187			8		0	0	1	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249108782	249108782	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249108782G>A	uc001iew.1	-	4	955	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	SH3BP5L_uc010pzp.1_Silent_p.L28L|SH3BP5L_uc001iev.1_Silent_p.L16L	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	135								p.L135L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTACCGCAGCGCTGCCTTC	0.607000														120			9		0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158225026	158225026	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158225026T>C	uc001frt.3	+	1	744	c.211T>C	c.(211-213)Tcc>Ccc	p.S71P	CD1A_uc021pbk.1_5'Flank	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	71				WS -> V (in Ref. 7; AAA51933).	antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.W70C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GTGCCCCTGGTCCAGGGGAAA	0.488000														106			31		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188581	98188581	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98188581G>A	uc003dsm.3	+	0	161	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACACCGTCGGCTTCACACA	0.453000														360			76		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162833294	162833294	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162833294A>G	uc002ubx.4	+	24	3436	c.3252A>G	c.(3250-3252)atA>atG	p.I1084M	SLC4A10_uc010zcs.2_Missense_Mutation_p.I1065M|SLC4A10_uc002uby.4_Missense_Mutation_p.I1054M	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1084					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGATCAATATATCTGATGAAA	0.358000														13			3		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097700	167097700	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097700G>T	uc001geb.1	+	4	3348	c.3332G>T	c.(3331-3333)aGg>aTg	p.R1111M		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1111					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGAAGGGAGGTTTGCATCT	0.512000														73			15		1.49906e-05	1.573e-05	1	1	0
SFTPC	6440	broad.mit.edu	37	8	22020132	22020132	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22020132C>T	uc003xaw.4	+	4	938	c.235C>T	c.(235-237)Cca>Tca	p.P79S	SFTPC_uc003xax.4_Missense_Mutation_p.P30S|SFTPC_uc003xay.4_Missense_Mutation_p.P30S|SFTPC_uc003xaz.3_Missense_Mutation_p.P30S|SFTPC_uc011kza.1_Missense_Mutation_p.P30S|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	30					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCCCTGCTGCCCAGTGCACCT	0.612000														245			48		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41275118	41275118	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41275118G>A	uc001zni.3	-	34	4608	c.4395C>T	c.(4393-4395)gcC>gcT	p.A1465A	INO80_uc010ucu.2_Non-coding_Transcript|INO80_uc021sjj.1_Intron	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1465	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGCAGCCCCGGCTTTGGCTC	0.617000														269			20		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168102034	168102034	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168102034G>T	uc002udx.3	+	8	4221	c.4132G>T	c.(4132-4134)Gac>Tac	p.D1378Y	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.D1203Y|XIRP2_uc010fpq.3_Missense_Mutation_p.D1156Y|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1203					actin cytoskeleton organization	cell junction	actin binding			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						CACACAAGAAGACATTCAGAA	0.363000														99			20		1.78486e-19	2.16869e-19	1	1	0
ARMC12	221481	broad.mit.edu	37	6	35704922	35704922	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35704922G>A	uc003ola.3	+	0	64	c.37G>A	c.(37-39)Gac>Aac	p.D13N	FKBP5_uc010jvy.2_5'Flank|ARMC12_uc003olb.1_Missense_Mutation_p.D13N	NM_145028	NP_659465	Q5T9G4	CF081_HUMAN	Homo sapiens armadillo repeat containing 12 (ARMC12), mRNA.	13							binding										GGGGCAACTGGACATCCGCAA	0.612000											OREG0017379	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			29		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39910118	39910118	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39910118C>T	uc003guv.4	-	10	1670	c.1130G>A	c.(1129-1131)cGt>cAt	p.R377H	PDS5A_uc003guw.4_Missense_Mutation_p.R377H	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	377					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	p.I376L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GACATCATGACGAATAGCTTC	0.348000														112			30		0	0	1	0	0
CREB5	9586	broad.mit.edu	37	7	28844112	28844112	+	Silent	SNP	G	A	A	rs61736232	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:28844112G>A	uc003szq.3	+	7	1389	c.999G>A	c.(997-999)ccG>ccA	p.P333P	CREB5_uc003szo.3_Silent_p.P300P|CREB5_uc003szr.3_Silent_p.P326P|CREB5_uc003szs.3_Silent_p.P194P	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	333					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						CGCCACATCCGCCCCTGCACA	0.542000														290			14		0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550903	8550903	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8550903C>T	uc010dwe.3	+	13	1671	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C	HNRNPM_uc010xke.1_Missense_Mutation_p.R477C|HNRNPM_uc010dwd.3_Missense_Mutation_p.R492C|HNRNPM_uc002mka.3_Missense_Mutation_p.R396C|HNRNPM_uc002mkb.1_5'Flank	NM_005968	NP_005959	P52272	HNRPM_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein M (HNRNPM), transcript variant 1, mRNA.	531	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	RNA binding|nucleotide binding|protein domain specific binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						GAGCATGGAGCGCATGGTGCC	0.687000														250			62		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35615281	35615281	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35615281C>A	uc021rid.1	+	1	1040	c.506C>A	c.(505-507)gCt>gAt	p.A169D	NBEA_uc021ric.1_Missense_Mutation_p.A169D	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	169						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)		AAAATGAGTGCTGTAGATGAC	0.348000														39			6		0.0215528	0.0217347	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100587894	100587894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100587894G>A	uc003yiv.3	+	31	5144	c.5033G>A	c.(5032-5034)cGg>cAg	p.R1678Q	VPS13B_uc003yiw.3_Missense_Mutation_p.R1653Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1678					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)			AGCATACGGCGGCATCAAGAA	0.353000														54			15		0	0	1	0	0
SLC36A4	120103	broad.mit.edu	37	11	92917667	92917667	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92917667G>A	uc001pdn.3	-	2	296	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	SLC36A4_uc001pdm.3_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	67					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAAGAAGGTGCATAAGAGTT	0.313000														112			29		0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105915065	105915065	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:105915065C>T	uc002tcq.3	-	2	870	c.786G>A	c.(784-786)gcG>gcA	p.A262A	TGFBRAP1_uc010fjc.3_Silent_p.A32A|TGFBRAP1_uc002tcr.4_Silent_p.A262A	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	262	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding	p.A262A(2)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CGTCATCGAGCGCTATGACGT	0.542000														130			40		0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329162	88329162	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:88329162C>A	uc001vln.3	+	1	1738	c.1519C>A	c.(1519-1521)Ctc>Atc	p.L507I	SLITRK5_uc010tic.1_Missense_Mutation_p.L266I|SLITRK5_uc021rlc.1_Missense_Mutation_p.L507I	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	507						integral to membrane		p.N506I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GGTCCCAAACCTCCAGCTGCT	0.527000														166			32		5.60225e-13	6.5042e-13	1	1	0
MECOM	2122	broad.mit.edu	37	3	168833312	168833312	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:168833312G>T	uc011bpj.1	-	7	2751	c.2348C>A	c.(2347-2349)gCc>gAc	p.A783D	MECOM_uc010hwk.1_Missense_Mutation_p.A618D|MECOM_uc003ffj.3_Missense_Mutation_p.A660D|MECOM_uc003ffi.3_Missense_Mutation_p.A595D|MECOM_uc011bpi.1_Missense_Mutation_p.A596D|MECOM_uc003ffn.3_Missense_Mutation_p.A595D|MECOM_uc003ffk.2_Missense_Mutation_p.A595D|MECOM_uc003ffl.2_Missense_Mutation_p.A755D|MECOM_uc011bpk.1_Missense_Mutation_p.A595D|MECOM_uc010hwn.2_Missense_Mutation_p.A783D	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	5							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTCCCACTGGCTCTACTCCT	0.532000														115			30		4.22769e-11	4.79992e-11	1	1	0
TECTA	7007	broad.mit.edu	37	11	121028656	121028656	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121028656C>T	uc010rzo.2	+	12	4412	c.4412C>T	c.(4411-4413)gCg>gTg	p.A1471V		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1471					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGAGTGTGCGCTGCGCAAC	0.667000														187			33		0	0	1	0	0
PDE6C	5146	broad.mit.edu	37	10	95396763	95396763	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95396763G>T	uc001kiu.4	+	10	1563	c.1425G>T	c.(1423-1425)gaG>gaT	p.E475D		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	475					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.Q474*(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AATTTCAAGAGAAGTTAAATG	0.308000														21			4		0.150653	0.151008	1	1	0
FRYL	285527	broad.mit.edu	37	4	48501642	48501642	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48501642G>A	uc003gyh.1	-	63	9444	c.8839C>T	c.(8839-8841)Ctg>Ttg	p.L2947L	FRYL_uc003gye.1_Silent_p.L129L|FRYL_uc003gyf.1_Silent_p.L337L|FRYL_uc003gyg.1_Silent_p.L1637L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2947					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATATGTAACAGTGTCTGTACA	0.423000														103			24		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	871406	871406	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:871406A>G	uc003gbm.4	-	15	2052	c.1853T>C	c.(1852-1854)aTg>aCg	p.M618T	GAK_uc003gbn.4_Missense_Mutation_p.M539T|GAK_uc010ibk.1_Missense_Mutation_p.M512T|GAK_uc003gbl.4_Missense_Mutation_p.M482T	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	618	C2 tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTCACCGCATCTTGTCGTA	0.652000														123			28		0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	131997935	131997935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131997935C>T	uc003qcu.4	+	10	1279	c.932C>T	c.(931-933)gCt>gTt	p.A311V	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.A311V|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	311	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTGCCCAAAGCTGAAAGGTAA	0.318000														55			8		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33652166	33652166	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33652166C>T	uc021ywr.1	+	36	5194	c.4970C>T	c.(4969-4971)tCg>tTg	p.S1657L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1657					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATGGAGTCGGAGGAGAAG	0.637000														87			19		0	0	1	0	0
OR1L6	392390	broad.mit.edu	37	9	125512172	125512172	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125512172C>A	uc022bna.1	+	0	46	c.46C>A	c.(46-48)Ctg>Atg	p.L16M		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						CTTCATCCTCCTGGGCCTCTC	0.542000														311			12		4.36969e-10	4.89342e-10	1	1	0
AVIL	10677	broad.mit.edu	37	12	58203397	58203397	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58203397C>A	uc001sqj.2	-	7	951	c.922G>T	c.(922-924)Gcc>Tcc	p.A308S	AVIL_uc009zqe.2_Missense_Mutation_p.A301S|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Missense_Mutation_p.A285S|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	308	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TTAGACATGGCTGCCTGTTTT	0.473000														101			27		4.87955e-14	5.71551e-14	1	1	0
PKD2	5311	broad.mit.edu	37	4	88968016	88968016	+	Silent	SNP	C	T	T	rs145716012		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88968016C>T	uc003hre.3	+	5	1629	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PKD2_uc011cdf.2_Intron	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	514						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATGTTGTGATCGTTGTGGTAG	0.363000														81			20		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884933	117884933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117884933C>T	uc001lcj.3	-	5	1267	c.569G>A	c.(568-570)cGc>cAc	p.R190H	GFRA1_uc001lci.3_Missense_Mutation_p.R185H|GFRA1_uc009xyr.3_Missense_Mutation_p.R185H	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	190					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GTGGCACTTGCGGCGGTTGCA	0.607000														89			21		0	0	1	0	0
ZHX3	23051	broad.mit.edu	37	20	39831542	39831542	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39831542G>A	uc010ggg.1	-	0	2165	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I	ZHX3_uc002xjr.1_Missense_Mutation_p.T672I|ZHX3_uc002xjs.1_Missense_Mutation_p.T672I|ZHX3_uc002xjt.1_Missense_Mutation_p.T672I|ZHX3_uc002xju.1_Missense_Mutation_p.T672I|ZHX3_uc002xjv.1_Missense_Mutation_p.T672I|ZHX3_uc002xjw.1_Missense_Mutation_p.T672I	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	672					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T672S(2)|p.T672A(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGCCTTCTTGGTCTCCTCAGC	0.507000														345			32		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141015943	141015943	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141015943G>T	uc004cog.3	+	45	6651	c.6506G>T	c.(6505-6507)aGc>aTc	p.S2169I	CACNA1B_uc022bqn.1_Intron|CACNA1B_uc004coi.3_Missense_Mutation_p.S1383I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2171					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGAATGGGAGCCCCTTGCTG	0.557000														97			22		1.5548e-18	1.87917e-18	1	1	0
VARS	7407	broad.mit.edu	37	6	31749699	31749699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749699G>A	uc003nxe.3	-	18	2695	c.2272C>T	c.(2272-2274)Cgc>Tgc	p.R758C	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.	758					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)	GCCTCATTGCGTCCACTCACC	0.637000														339			67		0	0	1	0	0
PIGB	9488	broad.mit.edu	37	15	55613553	55613553	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55613553C>A	uc002act.3	+	2	698	c.382C>A	c.(382-384)Ctt>Att	p.L128I	HP06981_uc021smt.1_5'Flank|PIGB_uc010ugg.2_Intron	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	128					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TTACAAGATTCTTCATCTTTT	0.338000														16			4		0.014758	0.0149061	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119668405	119668405	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119668405G>A	uc004esw.3	-	18	2688	c.2251C>T	c.(2251-2253)Ctg>Ttg	p.L751L	CUL4B_uc010nqq.3_Silent_p.L452L|CUL4B_uc004esv.3_Silent_p.L733L	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	751					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGCAGCACCAGTGTTTGAAAA	0.343000														149			9		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111598231	111598231	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111598231T>G	uc003kpv.1	-	6	876	c.602A>C	c.(601-603)aAa>aCa	p.K201T		NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	201	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.A200T(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTCCAGGGATTTGGCAGTCCT	0.403000														122			24		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169951979	169951979	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169951979G>A	uc001ggv.3	-	13	1807	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	KIFAP3_uc021pep.1_Silent_p.I472I|KIFAP3_uc010ply.2_Silent_p.I434I|KIFAP3_uc001ggw.2_Silent_p.I468I|KIFAP3_uc010plx.2_Silent_p.I214I	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	512					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CATCATTAGAGATCTGGGCTG	0.313000														77			7		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940800	113940800	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940800G>A	uc002tjc.3	+	1	950	c.767G>A	c.(766-768)tGc>tAc	p.C256Y	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.C255Y|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	256					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCGAGTCCTTGCTCAGAGAAC	0.597000														166			36		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96104083	96104083	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96104083C>T	uc003hto.3	-	13	2769	c.2416G>A	c.(2416-2418)Ggg>Agg	p.G806R		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	806					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		AAGATCTGCCCTTCTCCTTCC	0.522000														141			43		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82409048	82409048	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82409048G>A	uc001dit.4	+	5	974	c.793G>A	c.(793-795)Gac>Aac	p.D265N	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.D265N|LPHN2_uc001div.3_Missense_Mutation_p.D265N|LPHN2_uc009wcd.3_Missense_Mutation_p.D265N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	265	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.D265H(3)|p.I264F(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GACTGATATCGACCTAGCAGT	0.408000														120			27		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76498715	76498715	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76498715C>A	uc010dhp.2	-	32	5273	c.5148G>T	c.(5146-5148)gaG>gaT	p.E1716D	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATAGCCTTCCTCCAGCCTGG	0.478000														51			9		3.09899e-07	3.33423e-07	1	1	0
BOC	91653	broad.mit.edu	37	3	112993336	112993336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112993336G>A	uc003dzx.3	+	8	1970	c.1349G>A	c.(1348-1350)aGa>aAa	p.R450K	BOC_uc003dzy.3_Missense_Mutation_p.R450K|BOC_uc003dzz.3_Missense_Mutation_p.R450K|BOC_uc003eab.3_Missense_Mutation_p.R151K	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	450					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GCGCTCCCCAGACCCCCAACG	0.667000														143			31		0	0	1	0	0
RSPRY1	89970	broad.mit.edu	37	16	57272872	57272872	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57272872T>G	uc002elb.3	+	14	1994	c.1716T>G	c.(1714-1716)atT>atG	p.I572M	RSPRY1_uc002elc.3_Missense_Mutation_p.I572M|RSPRY1_uc002eld.3_Missense_Mutation_p.I572M	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	572						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCAGACAGATTTCTCATATTT	0.393000														76			6		0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113655143	113655143	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113655143G>A	uc001edf.1	+	13	2039	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H	LRIG2_uc009wgn.1_Missense_Mutation_p.R511H	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	614	Ig-like C2-type 2.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CTGACTATTCGCACTGGTGCC	0.478000														135			38		0	0	1	0	0
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33060428G>A	uc010dmt.3	-	3	481	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	INO80C_uc002kyw.1_Missense_Mutation_p.P86S|INO80C_uc002kyx.4_Missense_Mutation_p.P31S|INO80C_uc002kyy.4_Missense_Mutation_p.P86S	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	86					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488000														131			25		0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12341278	12341278	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:12341278G>A	uc001mkg.1	+	3	1753	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	488					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACAGGTAACAGAGGCTTCCTC	0.458000														146			41		0	0	1	0	0
KLHL14	57565	broad.mit.edu	37	18	30321972	30321972	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30321972G>T	uc002kxm.1	-	2	1376	c.988C>A	c.(988-990)Ctg>Atg	p.L330M		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	330						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CCAGGAGGCAGCCCTCCAACC	0.418000														64			8		1.11149e-13	1.2982e-13	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40583386	40583386	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40583386T>C	uc001zld.3	-	27	3172	c.2871_splice	c.e27-1	p.R957_splice	PLCB2_uc001zlc.3_5'UTR|PLCB2_uc010bbo.3_Splice_Site_p.R953_splice|PLCB2_uc010ucm.2_Splice_Site_p.R942_splice	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	957					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCAGGCTCCTGGGGAGGCCA	0.731000														20			4		0	0	1	0	0
MRPL48	51642	broad.mit.edu	37	11	73555945	73555945	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73555945G>A	uc001ouh.4	+	4	395	c.295G>A	c.(295-297)Gat>Aat	p.D99N	MRPL48_uc009ytt.3_5'UTR|MRPL48_uc010rri.2_Missense_Mutation_p.D81N	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), nuclear gene encoding mitochondrial protein, mRNA.	99					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						GACTGCATATGATATGACCCT	0.418000														52			15		0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	A	A	rs2739452		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51361378C>A	uc021uyi.1	+	2	341	c.300C>A	c.(298-300)ctC>ctA	p.L100L	KLK3_uc002pts.1_Silent_p.L100L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	NM_001648	NP_001639	P07288	KLK3_HUMAN	Homo sapiens kallikrein-related peptidase 3 (KLK3), transcript variant 1, mRNA.	100	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	p.L100L(3)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582000														82			20		8.34094e-07	8.90579e-07	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87338493	87338493	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87338493C>T	uc004aoa.1	+	8	1527	c.589C>T	c.(589-591)Cca>Tca	p.P197S	NTRK2_uc004anv.1_Missense_Mutation_p.P197S|NTRK2_uc004any.1_Missense_Mutation_p.P197S|NTRK2_uc004anz.1_Missense_Mutation_p.P197S|NTRK2_uc004aob.1_Missense_Mutation_p.P197S|NTRK2_uc011lsz.2_Missense_Mutation_p.P197S|NTRK2_uc011lta.2_Missense_Mutation_p.P197S|NTRK2_uc011ltb.1_Missense_Mutation_p.P41S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	197	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CATAGGTTTGCCATCTGCAAA	0.373000										TSP Lung(25;0.17)				119			11		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322952	134322952	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322952G>A	uc010hty.3	-	10	1517	c.1455C>T	c.(1453-1455)agC>agT	p.S485S	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.S464S	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	485						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTCCTCCACGCTGAAGCTGA	0.622000														40			12		0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76022516	76022516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76022516G>A	uc010kbe.3	-	5	3571	c.3041C>T	c.(3040-3042)aCg>aTg	p.T1014M	FILIP1_uc003phy.1_Missense_Mutation_p.T1011M|FILIP1_uc003phz.3_Missense_Mutation_p.T912M|FILIP1_uc003pia.3_Missense_Mutation_p.T1011M|FILIP1_uc003pib.1_Missense_Mutation_p.T763M	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	1011								p.S1013C(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TGTAGACACCGTCATTATCTG	0.493000														246			15		0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201822814	201822814	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201822814C>T	uc002uwr.3	-	2	304	c.33G>A	c.(31-33)atG>atA	p.M11I		NM_006190	NP_006181	Q13416	ORC2_HUMAN	Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA.	11					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GAACCTCCAGCATCTTGTCTT	0.338000														62			23		0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102901147	102901147	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102901147C>T	uc001ylw.2	+	8	2219	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	TECPR2_uc010awl.3_Missense_Mutation_p.P665S|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	665							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACAGTGGCTGCCTGGGACCAG	0.597000														72			14		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49054658	49054658	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49054658G>T	uc001zwz.3	-	17	2685	c.2492C>A	c.(2491-2493)gCc>gAc	p.A831D	CEP152_uc001zwy.3_Missense_Mutation_p.A831D|CEP152_uc001zxa.2_Missense_Mutation_p.A738D	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	831					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCCCTTGATGGCTATGTCCTT	0.358000														95			19		0.000175454	0.000181507	1	1	0
DEPDC4	120863	broad.mit.edu	37	12	100656045	100656045	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100656045C>T	uc009ztv.1	-	2	700	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Missense_Mutation_p.E233K|DEPDC4_uc001thj.1_Missense_Mutation_p.E166K|DEPDC4_uc001thk.1_Missense_Mutation_p.E44K|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	233					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATTACCTTCTTTTGAAAGC	0.338000														43			8		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686219	6686219	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6686219C>T	uc002mfm.3	-	28	3788	c.3726G>A	c.(3724-3726)caG>caA	p.Q1242Q		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1242					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGTCTTTTAGCTGCAGTAGGG	0.547000														308			80		0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153744853	153744853	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153744853C>T	uc009wom.3	+	27	2979	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	INTS3_uc001fct.3_Silent_p.L920L|INTS3_uc001fcu.3_Silent_p.L612L|INTS3_uc001fcv.3_Silent_p.L714L|INTS3_uc010peb.2_Silent_p.L714L|INTS3_uc001fcw.3_Silent_p.L433L|INTS3_uc010pec.2_Silent_p.L433L|INTS3_uc001fcx.3_Silent_p.L217L|INTS3_uc001fcy.3_Silent_p.L217L	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	921					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCAGCTGACTCTGGAGCAGAT	0.587000											OREG0013827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		143			37		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112899046	112899046	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112899046G>A	uc004bei.2	+	8	2110	c.1918G>A	c.(1918-1920)Gcc>Acc	p.A640T	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.A408T|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.A408T|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.A218T|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.A266T|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.A266T|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.A226T|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.A177T|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.A177T	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	177							enzyme binding	p.T640A(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAAAAGGAGGCCAAGTTTGA	0.532000														91			20		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66481107	66481107	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66481107G>A	uc001ojd.3	-	6	839	c.767C>T	c.(766-768)cCc>cTc	p.P256L		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	256	Actin-binding.|CH 2.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCACCTTCGGGATCCAGCAG	0.512000														215			55		0	0	1	0	0
APOH	350	broad.mit.edu	37	17	64222213	64222213	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64222213C>T	uc002jfn.4	-	2	330	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	91	Sushi 2.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			GCTCCATTTTCTAAGATTCCA	0.343000														41			18		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24868646	24868646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24868646C>T	uc001wpf.4	+	1	512	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	65					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						ATGGGCAAAGCCAAGGTAAAC	0.617000														32			8		0	0	1	0	0
GEN1	348654	broad.mit.edu	37	2	17962005	17962005	+	Missense_Mutation	SNP	C	T	T	rs150586336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17962005C>T	uc002rct.2	+	13	1599	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	SMC6_uc010exo.3_Intron|GEN1_uc010yjs.1_Missense_Mutation_p.S509L|GEN1_uc002rcu.2_Missense_Mutation_p.S509L	NM_182625	NP_872431	Q17RS7	GEN_HUMAN	Homo sapiens Gen endonuclease homolog 1 (Drosophila) (GEN1), transcript variant 1, mRNA.	509					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding	p.S509L(2)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGTTAAATTCGGGGATTTCC	0.368000								Homologous recombination						70			7		0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268953	52268953	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268953C>T	uc003pao.4	+	1	1116	c.942C>T	c.(940-942)cgC>cgT	p.R314R	PAQR8_uc021zal.1_Silent_p.R314R	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	314					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCCTGCAGCGCCATGGACCCC	0.597000														70			11		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61848050	61848050	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61848050T>G	uc001jky.3	-	28	3733	c.3395A>C	c.(3394-3396)cAg>cCg	p.Q1132P	ANK3_uc001jkw.3_Missense_Mutation_p.Q266P|ANK3_uc009xpa.3_Missense_Mutation_p.Q266P|ANK3_uc001jkx.3_Missense_Mutation_p.Q310P|ANK3_uc010qih.2_Missense_Mutation_p.Q1133P|ANK3_uc001jkz.4_Missense_Mutation_p.Q1126P|ANK3_uc001jla.1_Missense_Mutation_p.Q198P|ANK3_uc001jlb.1_Missense_Mutation_p.Q650P	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1132					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGCAAAATACTGGGGGAAATC	0.443000														158			38		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65688258	65688258	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688258G>A	uc002aou.1	-	6	1451	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	IGDCC4_uc002aot.1_Missense_Mutation_p.A2V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	414	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGCAGCGCACGCCATTCCCGC	0.701000														30			10		0	0	1	0	0
IQCK	124152	broad.mit.edu	37	16	19838353	19838353	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19838353C>T	uc002dgr.3	+	8	1395	c.696C>T	c.(694-696)cgC>cgT	p.R232R	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.A204V|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_Silent_p.R144R	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	232										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						TCCAGGTTCGCTGTGATCCTG	0.448000														115			23		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35406991	35406991	+	Silent	SNP	C	T	T	rs77010935	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:35406991C>T	uc003xjr.2	+	1	613	c.285C>T	c.(283-285)aaC>aaT	p.N95N	UNC5D_uc003xjs.2_Silent_p.N90N	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	95	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCCATCAGAACGAGCACGTCT	0.502000														53			6		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774144	14774144	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774144G>T	uc021ved.1	+	0	41	c.41G>T	c.(40-42)aGc>aTc	p.S14I	FAM84A_uc002rbz.2_Missense_Mutation_p.S14I|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	14										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTCAACTACAGCGAGTTGCCC	0.617000														66			14		4.3838e-07	4.70703e-07	1	1	0
INTS10	55174	broad.mit.edu	37	8	19681555	19681555	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19681555G>A	uc022asn.1	+	7	967	c.836_splice	c.e7+1	p.R279_splice	INTS10_uc003wzj.3_Splice_Site_p.R279_splice	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	279					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AAAGGAAGACGGTAATAAATA	0.353000														99			24		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119004915	119004915	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119004915G>A	uc001pvp.3	+	10	1505	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	HINFP_uc021qrj.1_3'UTR|HINFP_uc001pvq.3_Missense_Mutation_p.E421K|HINFP_uc001pvr.3_Missense_Mutation_p.E174K	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	421	Interaction with NPAT.				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTCGCTGAACGAGAGCAGCCT	0.587000											OREG0021397	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		104			28		0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70348222	70348222	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70348222C>A	uc004dyy.3	+	22	3485	c.3286C>A	c.(3286-3288)Ctt>Att	p.L1096I	MED12_uc011mpq.1_Missense_Mutation_p.L1096I|MED12_uc004dyz.3_Missense_Mutation_p.L1096I|MED12_uc004dza.3_Missense_Mutation_p.L943I|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1096					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTAGGAGTGCTTAAGGCCTT	0.507000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							184			58		1.48341e-19	1.80311e-19	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117077055	117077055	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117077055G>A	uc001pqr.3	-	16	2217	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	672					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGGTGAAACAGCCTACCAGCA	0.527000			T	IGH@	MLCLS									150			7		0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97868310	97868310	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97868310G>A	uc003dsg.1	+	0	81	c.81G>A	c.(79-81)ctG>ctA	p.L27L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L27Q(1)|p.L27M(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAATACCCCTGTTCCTGGCAT	0.423000														269			30		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48075569	48075569	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48075569C>T	uc001rpr.3	-	9	1140	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	RPAP3_uc010slk.2_Missense_Mutation_p.A183T|RPAP3_uc001rps.3_Missense_Mutation_p.A342T	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	342							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					AATAAAATGGCTTGTGTGCAG	0.338000														45			5		0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66596565	66596565	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66596565A>G	uc002jho.3	-	0	531	c.243T>C	c.(241-243)gcT>gcC	p.A81A	FAM20A_uc010wqp.2_5'UTR	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	81						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GGCTGCCGCCAGCCGGTTCAG	0.711000														53			9		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273383	162273383	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273383C>T	uc002ubw.1	+	0	764	c.462C>T	c.(460-462)aaC>aaT	p.N154N	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	154						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.N154N(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						TCATCACCAACGGAGCCTACA	0.672000														439			18		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887317	47887317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47887317G>A	uc003cru.3	+	9	1493	c.1067G>A	c.(1066-1068)cGc>cAc	p.R356H	DHX30_uc003crt.3_Missense_Mutation_p.R317H|DHX30_uc010hjr.1_Missense_Mutation_p.R384H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	356						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCCATCCTCCGCAAGATAGAG	0.597000														124			30		0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16326701	16326701	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:16326701G>A	uc003nbt.3	-	7	2812	c.1841C>T	c.(1840-1842)aCc>aTc	p.T614I	ATXN1_uc010jpi.3_Missense_Mutation_p.T614I|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	614	AXH.|Interaction with USP7.|RNA-binding.				RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CCTCTCTACGGTGCTGGAGTC	0.552000														170			33		0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47912583	47912583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47912583C>T	uc003csb.2	-	12	3105	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	MAP4_uc003csc.3_Missense_Mutation_p.R860H|MAP4_uc003crw.2_5'UTR|MAP4_uc003crx.2_Missense_Mutation_p.R120H|MAP4_uc011bbe.1_Missense_Mutation_p.R611H|MAP4_uc003csa.3_Missense_Mutation_p.R595H|MAP4_uc003crz.4_Non-coding_Transcript|MAP4_uc003csd.2_Missense_Mutation_p.R595H	NM_002375	NP_002366	P27816	MAP4_HUMAN	Homo sapiens microtubule-associated protein 4 (MAP4), transcript variant 1, mRNA.	860					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		GCTCTTTGGGCGACTCAAGTC	0.567000														173			35		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73720627	73720627	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73720627C>T	uc010ttx.2	+	10	1423	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N	PAPLN_uc001xnw.4_Silent_p.N393N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.N420N	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	420	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTGTAACCTGCAGCGCT	0.697000														98			10		0	0	1	0	0
EXOC3L4	91828	broad.mit.edu	37	14	103573842	103573842	+	Missense_Mutation	SNP	G	A	A	rs150993709		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103573842G>A	uc001ymk.3	+	7	1739	c.1663G>A	c.(1663-1665)Gcc>Acc	p.A555T		NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Homo sapiens exocyst complex component 3-like 4 (EXOC3L4), mRNA.	555										cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						GGTGACCTTCGCCGGTCATCT	0.677000														137			11		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	7888369	7888369	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7888369T>G	uc002knn.4	+	2	965	c.462T>G	c.(460-462)ttT>ttG	p.F154L	PTPRM_uc010dkv.3_Missense_Mutation_p.F154L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	154	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGCCTAACTTTTATCAGGTAT	0.348000														120			19		0	0	1	0	0
AX748230	0	broad.mit.edu	37	5	180651776	180651776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180651776C>T	uc003mnb.1	-	1	436	c.116G>A	c.(115-117)cGc>cAc	p.R39H	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|TRIM41_uc003mnc.2_Silent_p.S259S|TRIM41_uc003mnd.2_Silent_p.S259S|TRIM41_uc003mnf.2_Non-coding_Transcript|TRIM41_uc003mne.2_Silent_p.S259S					Homo sapiens cDNA FLJ36305 fis, clone THYMU2004677.																		AACAGCACAGCGTGGTGCCAT	0.547000														127			42		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1403077	1403077	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1403077G>A	uc003jck.3	-	12	1853	c.1727C>T	c.(1726-1728)gCg>gTg	p.A576V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	576	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CTTGTAGGCCGCATAGATGGG	0.632000														77			13		0	0	1	0	0
PON1	5444	broad.mit.edu	37	7	94940825	94940825	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94940825T>G	uc003uns.3	-	4	532	c.435A>C	c.(433-435)aaA>aaC	p.K145N	PON1_uc011kih.2_Missense_Mutation_p.K145N	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	145					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)	CTTCTTGAAATTTAAACAACT	0.358000														98			30		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64604534	64604534	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64604534C>T	uc001xgl.3	+	78	14906	c.14676C>T	c.(14674-14676)caC>caT	p.H4892H	SYNE2_uc001xgm.3_Silent_p.H4892H|SYNE2_uc021ruh.1_Silent_p.H4809H|SYNE2_uc010apy.3_Silent_p.H1277H|SYNE2_uc001xgn.3_5'Flank|SYNE2_uc021rui.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	4892					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding	p.H4892H(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGAAAACACGCCCGGCTTT	0.403000														97			20		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73063692	73063692	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73063692C>T	uc004ebm.1	-	0		c.8897G>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TTGATCAGGACACCCTGTTGT	0.383000														36			15		0	0	1	0	0
LAPTM4B	55353	broad.mit.edu	37	8	98827618	98827618	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:98827618G>A	uc003yia.3	+	2	703	c.547G>A	c.(547-549)Gga>Aga	p.G183R	LAPTM4B_uc010mbg.3_Intron	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	236					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GGCTACTTACGGAGCGTACAA	0.418000														60			9		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23702279	23702279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23702279C>T	uc002dma.4	-	21	2967	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	ERN2_uc010bxp.3_Missense_Mutation_p.R881H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	885					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCGTGGGAAGCGGTTTGTGAA	0.617000														148			15		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203216	119203216	+	Missense_Mutation	SNP	C	T	T	rs139833696		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203216C>T	uc003ica.2	-	12	2550	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	835	Peptidase S1.					membrane	scavenger receptor activity	p.G835R(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CAGCTCTCTCCGGGCCGTTCA	0.547000														159			39		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151154517	151154517	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151154517A>T	uc011bod.2	-	5	7832	c.7832T>A	c.(7831-7833)cTt>cAt	p.L2611H	IGSF10_uc011bob.2_Missense_Mutation_p.L638H|IGSF10_uc011boc.2_Missense_Mutation_p.L590H	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	2611	Ig-like C2-type 12.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCACTACCAAGTGGGTTCTT	0.383000														169			33		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267794	40267794	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40267794G>A	uc002hyx.2	-	11	1882	c.1822C>T	c.(1822-1824)Ctc>Ttc	p.L608F		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	608	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						AGGAAGTAGAGAATGTTGTGC	0.582000														207			40		0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187455135	187455135	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:187455135C>A	uc002upq.3	+	0	346	c.70C>A	c.(70-72)Ctg>Atg	p.L24M	ITGAV_uc010frs.3_Missense_Mutation_p.L24M	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	24					ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CTCGGGACTCCTGCTACCTCT	0.672000														114			27		7.01153e-11	7.92827e-11	1	1	0
C4orf40	401137	broad.mit.edu	37	4	71024410	71024410	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71024410G>T	uc003hfa.4	+	3	514	c.441G>T	c.(439-441)gaG>gaT	p.E147D	C4orf40_uc003hfb.4_Missense_Mutation_p.E147D	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	147	Ala-rich.					extracellular region		p.E147Q(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCAGCTGAGCCTGCTGCAG	0.617000														172			47		2.37825e-27	2.97891e-27	1	1	0
ZCCHC24	219654	broad.mit.edu	37	10	81192458	81192458	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81192458G>A	uc001kak.3	-	1	490	c.303C>T	c.(301-303)atC>atT	p.I101I	ZCCHC24_uc010qlr.2_Missense_Mutation_p.R42C|ZCCHC24_uc009xrw.3_Non-coding_Transcript	NM_153367	NP_699198	Q8N2G6	ZCH24_HUMAN	Homo sapiens zinc finger, CCHC domain containing 24 (ZCCHC24), mRNA.	101							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GGCCATCGGCGATGTTGTTGA	0.617000														76			18		0	0	1	0	0
PGD	5226	broad.mit.edu	37	1	10473299	10473299	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10473299A>G	uc001arc.3	+	7	925	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	PGD_uc010oak.2_Missense_Mutation_p.T257A	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	279					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CGTACCCGTCACCCTCATTGG	0.537000														86			14		0	0	1	0	0
DDX56	54606	broad.mit.edu	37	7	44612246	44612246	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44612246C>T	uc003tlg.3	-	3	1124	c.481G>A	c.(481-483)Gag>Aag	p.E161K	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.E161K|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	161	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACCAAAAGCTCCAGGGAGTCA	0.507000														203			36		0	0	1	0	0
FAM75D1	389763	broad.mit.edu	37	9	84609877	84609877	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84609877C>T	uc004amn.3	+	3	4539	c.4492C>T	c.(4492-4494)Cag>Tag	p.Q1498*		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	1498						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						CAAGGACAGACAGCCCCAGAA	0.483000														72			14		0	0	1	0	0
KIF1C	10749	broad.mit.edu	37	17	4905925	4905925	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4905925G>A	uc002gan.2	+	6	953	c.596G>A	c.(595-597)gGa>gAa	p.G199E		NM_006612	NP_006603	O43896	KIF1C_HUMAN	Homo sapiens kinesin family member 1C (KIF1C), mRNA.	199	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	Golgi apparatus|endoplasmic reticulum|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						ATGGACTGTGGAAATAAAGCA	0.592000														254			28		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484963	43484963	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484963C>T	uc003tid.1	+	10	2797	c.2192C>T	c.(2191-2193)aCg>aTg	p.T731M	HECW1_uc011kbi.1_Missense_Mutation_p.T731M	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	731					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCCGAGAGCACGGTCTTCTCC	0.632000														300			12		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95069174	95069174	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95069174T>G	uc022bjx.1	-	10	3156	c.2819A>C	c.(2818-2820)aAa>aCa	p.K940T	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.K872T	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	940					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						ATACTTAAATTTCTTAGCAGC	0.343000														99			29		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66462832	66462832	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66462832C>T	uc021xzk.1	+	28	8133	c.7825C>T	c.(7825-7827)Cgg>Tgg	p.R2609W	MAST4_uc003jut.2_Missense_Mutation_p.R2420W|MAST4_uc003juw.3_Missense_Mutation_p.R2348W|MAST4_uc003jux.3_Missense_Mutation_p.R173W	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2612						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACGGCAGAGGCGGGGGAAAGA	0.592000														61			9		0	0	1	0	0
PIH1D2	120379	broad.mit.edu	37	11	111941873	111941873	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111941873G>A	uc001pmp.4	-	3	659	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	PIH1D2_uc009yyl.3_Missense_Mutation_p.H146Y|PIH1D2_uc010rws.1_Missense_Mutation_p.H146Y	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	146										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TGGTAAGAGTGTGAGAGGGTG	0.343000														151			24		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6637024	6637024	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6637024C>T	uc001qoo.2	+	22	3035	c.2989C>T	c.(2989-2991)Cgt>Tgt	p.R997C	NCAPD2_uc009zen.1_Missense_Mutation_p.R869C|NCAPD2_uc010sfd.1_Missense_Mutation_p.R952C	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	997					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding	p.R997C(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGAACTAATCCGTGGCATCTG	0.493000														243			49		0	0	1	0	0
FTHL17	53940	broad.mit.edu	37	X	31089968	31089968	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:31089968A>G	uc004dcl.1	-	0	203	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	35	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.Y35N(3)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						ATAGACAGGTACAGGTAGGAG	0.607000														207			23		0	0	1	0	0
GPR182	11318	broad.mit.edu	37	12	57389519	57389519	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57389519G>T	uc021qzf.1	+	0	526	c.526G>T	c.(526-528)Ggc>Tgc	p.G176C	GPR182_uc001smk.3_Missense_Mutation_p.G176C	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	176						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						CATGTGTGCAGGCATCTGGGT	0.642000														182			12		0.00010058	0.000104357	1	1	0
SCAP	22937	broad.mit.edu	37	3	47460252	47460252	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47460252G>A	uc003crh.1	-	13	2277	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_uc011baz.1_Silent_p.D419D|SCAP_uc003crg.2_Silent_p.D282D	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701000														52			7		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96106260	96106260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96106260G>A	uc003hto.3	-	12	2577	c.2224C>T	c.(2224-2226)Cgc>Tgc	p.R742C	UNC5C_uc010ilc.2_Missense_Mutation_p.R761C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	742					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATTGACAGGCGCAGGTTGTGG	0.458000														197			49		0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19308954	19308954	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19308954C>T	uc002nls.3	+	6	982	c.477C>T	c.(475-477)agC>agT	p.S159S	RFXANK_uc002nlt.3_Silent_p.S136S|RFXANK_uc002nlu.3_Silent_p.S137S|RFXANK_uc002nlv.3_Silent_p.S159S|RFXANK_uc021uqt.1_Silent_p.S158S	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	159						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			AGCGAGAGAGCGCCCTGTCGC	0.597000														287			63		0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234333	18234333	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18234333T>G	uc001rdq.3	-	5	604	c.410A>C	c.(409-411)gAa>gCa	p.E137A		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	137	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CTTTTGCCCTTCTTCCCAGCC	0.443000														145			26		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103274267	103274267	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103274267G>T	uc003ykr.2	-	54	8173	c.7718C>A	c.(7717-7719)cCt>cAt	p.P2573H	UBR5_uc003yks.2_Missense_Mutation_p.P2572H|UBR5_uc003ykq.3_Missense_Mutation_p.P84H	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2573	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATACATTACAGGATCAAAAAA	0.353000														94			23		6.21321e-17	7.43302e-17	1	1	0
WWC1	23286	broad.mit.edu	37	5	167891807	167891807	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167891807C>T	uc003lzu.3	+	20	3083	c.2990C>T	c.(2989-2991)gCg>gTg	p.A997V	WWC1_uc003lzv.3_Missense_Mutation_p.A1003V|WWC1_uc011den.2_Missense_Mutation_p.A1003V|WWC1_uc003lzw.3_Missense_Mutation_p.A796V|WWC1_uc010jjf.1_Missense_Mutation_p.A269V	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	997	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GACCTGCAGGCGACAAGAACC	0.612000														153			21		0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649517	20649517	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:20649517C>T	uc001ytg.3	-	17	2701	c.1992G>A	c.(1990-1992)caG>caA	p.Q664Q	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.Q664Q|HERC2P3_uc010tyy.2_Silent_p.Q664Q					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.											central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGCTGAGGGCTGTGCAGGGG	0.562000														330			41		0	0	1	0	0
SCD	6319	broad.mit.edu	37	10	102114262	102114262	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102114262C>T	uc001kqy.3	+	3	1010	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	174					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		TCATAATTCCCGACGTGGCTT	0.507000														190			35		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52265189	52265189	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52265189G>A	uc003ddd.3	-	4	588	c.437C>T	c.(436-438)cCg>cTg	p.P146L	TLR9_uc003ddb.3_5'UTR|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.I146T(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CGAGGTCAGCGGGGCAGGTGC	0.617000														280			40		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179302094	179302094	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179302094C>A	uc003mlh.3	-	11	2029	c.1994G>T	c.(1993-1995)aGc>aTc	p.S665I	TBC1D9B_uc003mli.3_Missense_Mutation_p.S665I|TBC1D9B_uc003mlj.3_Missense_Mutation_p.S665I|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	665	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCGAGATGCTGGAGATCAC	0.597000														179			49		1.56989e-16	1.87357e-16	1	1	0
ADORA2A	135	broad.mit.edu	37	22	24829461	24829461	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24829461C>T	uc002zzx.3	+	3	852	c.89C>T	c.(88-90)gCc>gTc	p.A30V	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Missense_Mutation_p.A30V|ADORA2A_uc021wng.1_Silent_p.G49G|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_Silent_p.G49G|ADORA2A_uc010guq.3_Missense_Mutation_p.A30V|ADORA2A_uc010gup.3_Missense_Mutation_p.A30V|ADORA2A_uc003aab.3_Missense_Mutation_p.A30V	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	30					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	GTGTGCTGGGCCGTGTGGCTC	0.617000														142			39		0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150715331	150715331	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:150715331C>T	uc003qnx.2	+	3	767	c.627C>T	c.(625-627)gtC>gtT	p.V209V	IYD_uc003qnv.2_Silent_p.V209V|IYD_uc003qnu.2_Silent_p.V209V|IYD_uc003qnw.2_Non-coding_Transcript|IYD_uc010kik.2_Silent_p.V127V	NM_001164694	NP_001158166	Q6PHW0	IYD1_HUMAN	Homo sapiens iodotyrosine deiodinase (IYD), transcript variant 1, mRNA.	209					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		AGAAAAAAGTCCACTACTACA	0.438000														106			15		0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	179965742	179965742	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179965742C>T	uc001gnt.3	+	5	833	c.450C>T	c.(448-450)caC>caT	p.H150H	CEP350_uc001gnr.1_Silent_p.H124H|CEP350_uc009wxl.2_Silent_p.H149H|CEP350_uc001gnu.3_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	150						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						AATCAAAGCACGTATACTGTG	0.383000														19			3		0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25616462	25616462	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25616462C>T	uc001zaq.3	-	6	1628	c.868G>A	c.(868-870)Gta>Ata	p.V290I	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.V267I|UBE3A_uc001zas.3_Missense_Mutation_p.V287I|UBE3A_uc001zat.3_Missense_Mutation_p.V267I	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	290			V -> G (in dbSNP:rs1059383).		brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCTCCATTACGATAATGAAC	0.393000														92			17		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130287198	130287198	+	Silent	SNP	C	T	T	rs72992282	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130287198C>T	uc010htl.3	+	4	2182	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	717	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCACCAAGGGCGCCCGGCCCA	0.498000														158			29		0	0	1	0	0
ZNF749	388567	broad.mit.edu	37	19	57956765	57956765	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57956765C>A	uc002qoq.2	+	2	2503	c.2249C>A	c.(2248-2250)tCt>tAt	p.S750Y		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGAGAAAGGTCTTATGAGTGT	0.398000														119			26		4.26978e-12	4.90093e-12	1	1	0
PHKG1	5260	broad.mit.edu	37	7	56151035	56151035	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56151035G>A	uc011kdb.1	-	6	774	c.579C>T	c.(577-579)aaC>aaT	p.N193N	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Silent_p.N55N|PHKG1_uc003trz.1_Silent_p.N161N|PHKG1_uc011kdc.1_Silent_p.N152N|PHKG1_uc011kdd.1_Silent_p.N107N	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	161	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGATGTTCATGTTGTCATCCA	0.557000														112			17		0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28672188	28672188	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28672188C>T	uc002kwl.4	-	2	684	c.230G>A	c.(229-231)gGt>gAt	p.G77D	DSC2_uc002kwk.4_Missense_Mutation_p.G77D|DSC2_uc010xbo.1_Missense_Mutation_p.G77D	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	77					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ATAGACTGAACCATCCTCCAA	0.343000														60			15		0	0	1	0	0
CPSF4	10898	broad.mit.edu	37	7	99051675	99051675	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99051675G>A	uc003uqj.3	+	6	800	c.657G>A	c.(655-657)ccG>ccA	p.P219P	ATP5J2-PTCD1_uc011kiw.2_Intron|CPSF4_uc003uqi.3_Silent_p.P194P|CPSF4_uc003uqk.3_Silent_p.P193P|CPSF4_uc011kix.2_Silent_p.P141P	NM_006693	NP_006684	O95639	CPSF4_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 4, 30kDa (CPSF4), transcript variant 1, mRNA.	219					mRNA processing|modification by virus of host mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding	p.P219Q(2)|p.P219T(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGAGAACCCCGCAGGTCATCG	0.557000														364			82		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32956758	32956758	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32956758C>A	uc001mty.3	+	3	3834	c.3567C>A	c.(3565-3567)ccC>ccA	p.P1189P	QSER1_uc001mtz.1_Silent_p.P950P|QSER1_uc001mua.3_Silent_p.P694P	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1189										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CATTTTGTCCCCCACCACTTC	0.473000														137			36		1.08052e-11	1.23412e-11	1	1	0
NFASC	23114	broad.mit.edu	37	1	204938111	204938111	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204938111G>A	uc010prc.2	+	9	1144	c.-385_splice	c.e9+1		NFASC_uc001hbh.3_Splice_Site_p.A335_splice|NFASC_uc010pqz.2_Splice_Site_p.A329_splice|NFASC_uc001hbj.3_Splice_Site_p.A335_splice|NFASC_uc010pra.2_Splice_Site_p.A346_splice|NFASC_uc001hbi.3_Splice_Site_p.A346_splice|NFASC_uc009xbg.1_Splice_Site_p.A419_splice|NFASC_uc010prb.2_Splice_Site_p.A346_splice|NFASC_uc001hbk.1_Splice_Site_p.A156_splice			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			AGAGTAAAGGGTACGTTGTGT	0.522000														68			8		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31494783	31494783	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31494783C>T	uc003ajl.2	+	16	2531	c.2290C>T	c.(2290-2292)Cgc>Tgc	p.R764C	SMTN_uc003ajk.2_Missense_Mutation_p.R764C|SMTN_uc003ajm.2_Missense_Mutation_p.R764C|SMTN_uc011ale.2_Missense_Mutation_p.R849C|SMTN_uc011alf.2_Missense_Mutation_p.R820C|SMTN_uc003ajn.2_Missense_Mutation_p.R787C|SMTN_uc011alg.2_Missense_Mutation_p.R220C|SMTN_uc003ajo.2_Missense_Mutation_p.R287C|SMTN_uc010gwe.2_Missense_Mutation_p.R144C	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	764					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle	p.A763V(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CTCCCAGGCGCGCAAGGCCAT	0.677000														72			10		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130002306	130002306	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:130002306G>T	uc010lmd.1	+	8	1182	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	CPA5_uc003vps.2_Missense_Mutation_p.A188S|CPA5_uc003vpt.2_Missense_Mutation_p.A188S|CPA5_uc010lme.1_Missense_Mutation_p.A188S|CPA5_uc003vpu.1_Missense_Mutation_p.A188S	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	188					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCGGCACCCAGCCATCTGGAT	0.552000														116			6		0.00116845	0.00119477	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140751489C>T	uc003ljw.2	+	0	1528	c.1528C>T	c.(1528-1530)Cgg>Tgg	p.R510W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R510W|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	512	Cadherin 5.				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)			CGTGAGCGCGCGGAGCGGGGT	0.667000														201			40		0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999191	30999191	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999191G>T	uc002eaf.2	+	6	903	c.797G>T	c.(796-798)aGg>aTg	p.R266M	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.R266M	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	266					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TCACCCTACAGGAGCTACGAG	0.632000														584			23		1.1804e-14	1.38988e-14	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42116132	42116132	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42116132C>T	uc001zok.4	+	29	4390	c.4104C>T	c.(4102-4104)ccC>ccT	p.P1368P	MAPKBP1_uc010bci.3_Intron|MAPKBP1_uc010udb.2_Silent_p.P1201P|MAPKBP1_uc001zoj.4_Silent_p.P1362P|MAPKBP1_uc010bcj.3_Silent_p.P869P|MAPKBP1_uc010bck.3_Silent_p.P579P|MAPKBP1_uc010bcl.3_Silent_p.P869P	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1368										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCAGCAGCCCCTGTGCCCAGC	0.607000														214			47		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329323	80329323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:80329323G>A	uc003hlu.3	-	0	50	c.32C>T	c.(31-33)cCg>cTg	p.P11L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	11					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCCCACCAACGGCCCCACAGC	0.572000														80			16		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19447793	19447793	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19447793C>A	uc001bbi.3	-	67	10035	c.10031G>T	c.(10030-10032)aGt>aTt	p.S3344I	UBR4_uc001bbk.1_Missense_Mutation_p.S991I	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3344	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGAAGAAGCACTGGAGGATCC	0.557000														124			15		1.49906e-05	1.573e-05	1	1	0
MEPCE	56257	broad.mit.edu	37	7	100029193	100029193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100029193C>T	uc003uuw.3	+	0	1940	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Nonsense_Mutation_p.R49*|MEPCE_uc022aio.1_Nonsense_Mutation_p.R49*|MEPCE_uc003uuv.3_Nonsense_Mutation_p.R49*	NM_019606	NP_062552	Q7L2J0	MEPCE_HUMAN	Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA.	518	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCACCGTTCGAAAGAGGAG	0.632000														111			19		0	0	1	0	0
NOP56	10528	broad.mit.edu	37	20	2636275	2636275	+	Silent	SNP	C	T	T	rs147425088	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2636275C>T	uc002wgh.3	+	6	921	c.792C>T	c.(790-792)atC>atT	p.I264I	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Silent_p.I98I	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	264	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.I264I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						TGATAAACATCGAGAGCTTCT	0.498000														178			49		0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33218738	33218738	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33218738G>T	uc003odm.1	-	19	2262	c.2052C>A	c.(2050-2052)ctC>ctA	p.L684L	HCG25_uc021ywj.1_Intron|VPS52_uc003odn.1_Silent_p.L495L	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	684					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AGCGATGATAGAGCTGGATCA	0.537000														186			8		0.00307968	0.00313564	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79433613	79433613	+	Missense_Mutation	SNP	G	A	A	rs140528152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79433613G>A	uc001xun.3	+	9	2212	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R699H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	166					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AACAGTGACCGCCCCCTGAAT	0.423000														82			15		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215960182	215960182	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215960182G>A	uc001hku.1	-	51	10604	c.10217C>T	c.(10216-10218)tCt>tTt	p.S3406F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3406	Fibronectin type-III 19.				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)		GGCTTCCATAGATGCTGGGCA	0.468000										HNSCC(13;0.011)				75			15		0	0	1	0	0
MRPS30	10884	broad.mit.edu	37	5	44812023	44812023	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:44812023C>T	uc003joh.3	+	2	792	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_016640	NP_057724	Q9NP92	RT30_HUMAN	Homo sapiens mitochondrial ribosomal protein S30 (MRPS30), nuclear gene encoding mitochondrial protein, mRNA.	252					apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					TAAGTTTGTGCCATTGGATTA	0.303000														72			21		0	0	1	0	0
NAA16	79612	broad.mit.edu	37	13	41899884	41899884	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41899884G>T	uc001uyf.2	+	5	912	c.588G>T	c.(586-588)caG>caT	p.Q196H	NAA16_uc010tfg.1_Non-coding_Transcript|NAA16_uc001uye.4_Missense_Mutation_p.Q196H|NAA16_uc001uyd.4_Missense_Mutation_p.Q196H	NM_024561	NP_078837	Q6N069	NAA16_HUMAN	Homo sapiens N(alpha)-acetyltransferase 16, NatA auxiliary subunit (NAA16), transcript variant 1, mRNA.	196					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TATTATACCAGAATCAAGTGA	0.284000														51			8		0.0381472	0.038366	1	1	0
GTPBP3	84705	broad.mit.edu	37	19	17450356	17450356	+	Missense_Mutation	SNP	C	T	T	rs151131704		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17450356C>T	uc002ngg.4	+	5	1113	c.1018C>T	c.(1018-1020)Cgg>Tgg	p.R340W	GTPBP3_uc010xpo.2_Missense_Mutation_p.R330W|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R308W|GTPBP3_uc002ngh.4_Missense_Mutation_p.R308W	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	308					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GGCTGGGTTGCGGGAGGGCGT	0.716000														115			32		0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106959834	106959834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106959834G>A	uc001kyi.1	+	14	2314	c.2087G>A	c.(2086-2088)tGc>tAc	p.C696Y	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	696						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCGGCATTGCACCAAGGAG	0.532000														155			39		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	64004931	64004931	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004931C>T	uc003peh.3	-	1	84	c.50G>A	c.(49-51)gGc>gAc	p.G17D	LGSN_uc003pei.3_Missense_Mutation_p.G17D|LGSN_uc003pej.1_Missense_Mutation_p.G17D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	17					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AGTCTCATTGCCTTCATCTCT	0.343000														62			13		0	0	1	0	0
WSB2	55884	broad.mit.edu	37	12	118480730	118480730	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:118480730G>T	uc001twr.2	-	3	573	c.475C>A	c.(475-477)Ctg>Atg	p.L159M	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Missense_Mutation_p.L159M	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	159					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGAAGCTCAGATCTCTCACG	0.557000														193			48		9.58827e-17	1.14549e-16	1	1	0
LPCAT3	10162	broad.mit.edu	37	12	7091893	7091893	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7091893G>T	uc001qsi.3	-	2	424	c.310C>A	c.(310-312)Ctt>Att	p.L104I	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_5'UTR|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	104					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						ATTAGTCGAAGGATGAGGAAC	0.517000														60			12		2.61681e-11	2.97614e-11	1	1	0
EPS8L2	64787	broad.mit.edu	37	11	721660	721660	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:721660G>A	uc001lqt.3	+	9	1111	c.864G>A	c.(862-864)aaG>aaA	p.K288K	EPS8L2_uc010qwj.1_Silent_p.K304K|EPS8L2_uc001lqu.3_Silent_p.K288K|EPS8L2_uc010qwk.2_Silent_p.K304K|EPS8L2_uc001lqv.3_Silent_p.K243K|EPS8L2_uc001lqw.3_5'UTR|EPS8L2_uc001lqx.3_5'Flank|EPS8L2_uc001lqy.3_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	Homo sapiens EPS8-like 2 (EPS8L2), mRNA.	288						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCGGAAAAAGGGGAAGAAGA	0.657000														91			18		0	0	1	0	0
DOT1L	84444	broad.mit.edu	37	19	2220181	2220181	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2220181C>T	uc002lvc.1	+	8	1415	c.648C>T	c.(646-648)gcC>gcT	p.A216A	DOT1L_uc002lvb.4_Silent_p.A922A|DOT1L_uc002lve.1_Silent_p.A216A	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	922						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTAATGCCCACGGTGCTG	0.627000														79			6		0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50663102	50663102	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50663102C>A	uc001csb.2	+	6	1003	c.735_splice	c.e6-1	p.R245_splice	ELAVL4_uc001cry.3_Splice_Site_p.R248_splice|ELAVL4_uc001crz.3_Splice_Site_p.R245_splice|ELAVL4_uc001csa.3_Splice_Site_p.R262_splice|ELAVL4_uc001csc.3_Splice_Site_p.R245_splice|ELAVL4_uc009vyu.3_Splice_Site_p.R250_splice|ELAVL4_uc010omz.2_Splice_Site_p.R250_splice	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	245					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TCTTTGCAGGCTGGACAATTT	0.418000														169			16		2.32078e-09	2.57599e-09	1	1	0
DOPEY2	9980	broad.mit.edu	37	21	37617780	37617780	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617780G>A	uc002yvg.3	+	18	3581	c.3502G>A	c.(3502-3504)Gaa>Aaa	p.E1168K	DOPEY2_uc011aeb.2_Missense_Mutation_p.E1117K|DOPEY2_uc002yvh.3_Missense_Mutation_p.E19K	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1168					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTTCCAGTCAGAAAGCTTCAA	0.637000														109			28		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28588089	28588089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28588089G>A	uc002kwj.4	-	10	1711	c.1556C>T	c.(1555-1557)aCc>aTc	p.T519I	DSC3_uc002kwi.4_Missense_Mutation_p.T519I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	519	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCATCAATGGTGATCCAACC	0.313000														28			7		0	0	1	0	0
CACYBP	27101	broad.mit.edu	37	1	174979110	174979110	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174979110T>C	uc001gkj.1	+	5	1007	c.582T>C	c.(580-582)gtT>gtC	p.V194V	CACYBP_uc001gki.1_Silent_p.V151V	NM_014412	NP_001007215	Q9HB71	CYBP_HUMAN	Homo sapiens calcyclin binding protein (CACYBP), transcript variant 1, mRNA.	194	Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						TGATGAATGTTCTAAAGAAAA	0.403000														77			33		0	0	1	0	0
LDOC1L	84247	broad.mit.edu	37	22	44893044	44893044	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44893044C>T	uc003beu.1	-	1	730	c.393G>A	c.(391-393)ccG>ccA	p.P131P	LDOC1L_uc021wrd.1_Silent_p.P131P	NM_032287	NP_115663	Q6ICC9	LDOCL_HUMAN	Homo sapiens leucine zipper, down-regulated in cancer 1-like (LDOC1L), mRNA.	131										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CGGCCTCACCCGGGAAGCGGG	0.632000														102			16		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75444616	75444616	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75444616G>T	uc001sxg.1	-	2	1713	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D	KCNC2_uc009zry.3_Missense_Mutation_p.A390D|KCNC2_uc001sxe.3_Missense_Mutation_p.A390D|KCNC2_uc001sxf.3_Missense_Mutation_p.A390D|KCNC2_uc010stw.1_Missense_Mutation_p.A390D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	390					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AACTCCTAGAGCCAGGAAAAT	0.438000														77			17		9.16793e-09	1.00855e-08	1	1	0
PIPSL	266971	broad.mit.edu	37	10	95720147	95720147	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720147C>T	uc009xuj.2	-	0	1526	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TTTACTATTCCGGGCAGGGAT	0.502000														121			24		0	0	1	0	0
API5	8539	broad.mit.edu	37	11	43351531	43351531	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:43351531C>T	uc010rfh.1	+	9	1317	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	API5_uc001mxf.2_Missense_Mutation_p.R382W|API5_uc010rfg.1_Missense_Mutation_p.R371W|API5_uc010rfi.1_Missense_Mutation_p.R328W|API5_uc021qgi.1_Missense_Mutation_p.R209W|API5_uc001mxg.3_Missense_Mutation_p.R256W	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	382	Leucine-zipper.				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GTACTTTGCACGGGGCCTGCA	0.373000														56			20		0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130505263	130505263	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:130505263C>T	uc003qbw.3	-	6	967	c.639G>A	c.(637-639)gaG>gaA	p.E213E	SAMD3_uc003qbx.3_Silent_p.E213E|SAMD3_uc010kfg.1_Silent_p.E213E|SAMD3_uc003qby.3_Silent_p.E213E|SAMD3_uc003qbz.1_Silent_p.E172E	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	213										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CACAGCCATCCTCATCCAGGA	0.468000														75			9		0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620480	59620480	+	Missense_Mutation	SNP	C	T	T	rs17851654		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59620480C>T	uc001noj.2	-	8	1368	c.1270G>A	c.(1270-1272)Gaa>Aaa	p.E424K		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	424					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCCAAGTTTTCTCCATTGCGG	0.413000														221			41		0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73433639	73433639	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73433639C>T	uc003dpl.1	-	9	2174	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	PDZRN3_uc011bgh.1_Missense_Mutation_p.R350H|PDZRN3_uc010hoe.1_Missense_Mutation_p.R391H|PDZRN3_uc021xaq.1_5'UTR|PDZRN3_uc011bgf.1_Missense_Mutation_p.R410H|PDZRN3_uc011bgg.1_Missense_Mutation_p.R413H	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	693							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCGATGCTGCGCAGCTCTTC	0.632000														127			26		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35731106	35731106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35731106C>T	uc010zvu.2	-	24	3204	c.3113G>A	c.(3112-3114)gGc>gAc	p.G1038D	C20orf132_uc002xgk.3_Missense_Mutation_p.G670D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				AGAGGACCTGCCCATGAGCTT	0.512000														386			75		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77090061	77090061	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77090061C>T	uc002lmx.3	+	16	1999	c.1985C>T	c.(1984-1986)gCc>gTc	p.A662V	ATP9B_uc002lmw.1_Missense_Mutation_p.A662V|ATP9B_uc002lmz.1_Missense_Mutation_p.A356V	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	662					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GCTGACGTGGCCATGTCTCCT	0.468000														100			16		0	0	1	0	0
AMOTL2	51421	broad.mit.edu	37	3	134080624	134080624	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134080624C>T	uc003eqf.2	-	5	1596	c.1479G>A	c.(1477-1479)gaG>gaA	p.E493E	AMOTL2_uc003eqg.1_Silent_p.E435E|AMOTL2_uc003eqh.1_Silent_p.E435E|AMOTL2_uc003eqe.1_Silent_p.E60E	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	435										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTCCAGCTTCTCTTGCTCCT	0.652000														31			9		0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7713003	7713003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:7713003G>A	uc003jdz.1	+	10	1680	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	ADCY2_uc011cmo.1_Missense_Mutation_p.R358H	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	538					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TTTCAAAATCGCACCTTAAGG	0.303000														32			8		0	0	1	0	0
PAPD7	11044	broad.mit.edu	37	5	6751208	6751208	+	Silent	SNP	G	A	A	rs113180271	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:6751208G>A	uc003jdx.1	+	10	1296	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	PAPD7_uc011cmn.2_Silent_p.A389A|PAPD7_uc010itl.1_Silent_p.A209A	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	389					DNA replication|cell division|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|SMC protein binding|metal ion binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGCAAGCGCCAGCTCCTC	0.532000														192			40		0	0	1	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25893459	25893459	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25893459G>T	uc001bkl.4	+	8	1017	c.903G>T	c.(901-903)gaG>gaT	p.E301D	LDLRAP1_uc009vrw.3_Non-coding_Transcript|LDLRAP1_uc009vrx.3_Missense_Mutation_p.E131D	NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	301					amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGCACAGAGCAGGATGACC	0.647000														99			6		2.0095e-06	2.13635e-06	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140437993	140437993	+	Missense_Mutation	SNP	G	T	T	rs146033561		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140437993G>T	uc010ncj.1	-	5	734	c.397C>A	c.(397-399)Ctg>Atg	p.L133M	PNPLA7_uc004cnf.2_Missense_Mutation_p.L108M	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	108					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TTGGGCTGCAGGGCCGGGTAT	0.572000														138			23		1.85244e-09	2.0593e-09	1	1	0
DOCK1	1793	broad.mit.edu	37	10	129224193	129224193	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129224193T>C	uc010qun.2	+	46	4896	c.4832T>C	c.(4831-4833)cTg>cCg	p.L1611P	DOCK1_uc001ljt.3_Missense_Mutation_p.L1590P|DOCK1_uc009yaq.3_Missense_Mutation_p.L585P	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1590	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACGGAGGCACTGAGGCCGTTC	0.488000														292			68		0	0	1	0	0
MAEA	10296	broad.mit.edu	37	4	1305803	1305803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1305803G>A	uc003gda.3	+	1	136	c.106G>A	c.(106-108)Gct>Act	p.A36T	MAEA_uc010ibs.1_Missense_Mutation_p.A36T|MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Missense_Mutation_p.A36T|MAEA_uc011bvb.2_Missense_Mutation_p.A36T|MAEA_uc003gdc.3_Missense_Mutation_p.A36T|MAEA_uc011bvc.2_Missense_Mutation_p.A35T|MAEA_uc011bvd.2_5'UTR	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	36	Extracellular and involved in cell to cell contact.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding	p.A36T(2)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			CTTTCGCGCCGCTCAGAAGAA	0.642000														127			23		0	0	1	0	0
PDLIM2	64236	broad.mit.edu	37	8	22439020	22439020	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22439020G>A	uc003xby.3	+	2	1011	c.222G>A	c.(220-222)tcG>tcA	p.S74S	PDLIM2_uc003xbx.2_Silent_p.S324S|PDLIM2_uc003xca.3_Silent_p.S74S|PDLIM2_uc003xcc.2_Silent_p.S74S	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	Homo sapiens PDZ and LIM domain 2 (mystique) (PDLIM2), transcript variant 2, mRNA.	74	PDZ.					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGAGCCCCTCGCCCCTGCGGC	0.667000														72			9		0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54527267	54527267	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527267G>A	uc003jpw.3	-	2	1146	c.989C>T	c.(988-990)tCc>tTc	p.S330F	CCNO_uc003jpv.3_Non-coding_Transcript	NM_021147	NP_066970	P22674	CCNO_HUMAN	Homo sapiens cyclin O (CCNO), mRNA.	330					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			GTGAGTCAAGGAAGTACTGTT	0.592000														150			31		0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865209	47865209	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47865209C>T	uc002xui.3	-	13	4599	c.4352G>A	c.(4351-4353)aGc>aAc	p.S1451N		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1451							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCGAAGCAGCTGTGGCAGGA	0.567000														88			27		0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	156974923	156974923	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156974923C>A	uc010lqs.3	+	7	1204	c.892C>A	c.(892-894)Ctg>Atg	p.L298M	UBE3C_uc003wnf.2_Missense_Mutation_p.L255M|UBE3C_uc003wng.2_Missense_Mutation_p.L298M	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	298					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.L298L(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGAGCCCTTTCTGAATGCACT	0.438000														159			30		2.65835e-16	3.16856e-16	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109380402	109380402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109380402G>A	uc002tem.4	+	19	3533	c.3407G>A	c.(3406-3408)gGt>gAt	p.G1136D		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1136					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						ACTTTCCATGGTCCAGGGAAA	0.423000														189			39		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90167307	90167307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90167307G>A	uc002boe.3	+	19	3766	c.3766G>A	c.(3766-3768)Gcc>Acc	p.A1256T	C15orf42_uc021sug.1_Missense_Mutation_p.A1255T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1256	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGAGCAGCAGCCTTCATGGG	0.572000														211			52		0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31104728	31104728	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104728A>G	uc002eas.3	-	1	414	c.188T>C	c.(187-189)tTc>tCc	p.F63S	PRSS53_uc002ear.3_5'UTR|VKORC1_uc002eat.3_Intron|VKORC1_uc002eau.3_Missense_Mutation_p.F63S	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1 (VKORC1), transcript variant 1, mRNA.	63					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	CACCAGCCCGAAACCCCTGCC	0.557000														86			20		0	0	1	0	0
HSPA7	3311	broad.mit.edu	37	1	161576299	161576299	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161576299G>A	uc010pkp.1	+	0	451	c.219G>A	c.(217-219)aaG>aaA	p.K73K						Homo sapiens heat shock 70kDa protein 7 (HSP70B) (HSPA7), non-coding RNA.																		TCGATGCCAAGCGGCTGATCG	0.687000														110			19		0	0	1	0	0
AVIL	10677	broad.mit.edu	37	12	58200264	58200264	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58200264A>G	uc001sqj.2	-	12	1579	c.1550T>C	c.(1549-1551)aTt>aCt	p.I517T	AVIL_uc009zqe.2_Missense_Mutation_p.I510T|AVIL_uc001sqk.1_Missense_Mutation_p.I95T|AVIL_uc001sql.4_Missense_Mutation_p.I494T	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	517	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					ATTTCCATGAATTTGGAAGAG	0.488000														109			12		0	0	1	0	0
ZFAND5	7763	broad.mit.edu	37	9	74971957	74971957	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74971957C>A	uc010moy.1	-	4	664	c.383G>T	c.(382-384)aGt>aTt	p.S128I	ZFAND5_uc010mox.1_Missense_Mutation_p.S25I|ZFAND5_uc004aix.2_Missense_Mutation_p.S128I|ZFAND5_uc004aiw.2_Missense_Mutation_p.S128I|ZFAND5_uc004aiy.2_Missense_Mutation_p.S128I	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	128							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AACTGATGGACTGGGCTGAGT	0.378000														56			11		1.5842e-08	1.73923e-08	1	1	0
MGA	23269	broad.mit.edu	37	15	42057138	42057138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42057138C>T	uc010ucy.2	+	22	7980	c.7799C>T	c.(7798-7800)cCg>cTg	p.P2600L	MGA_uc010ucz.2_Missense_Mutation_p.P2391L	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2561						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTGATGACTCCGCAAGGGCAA	0.443000														168			22		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28435016	28435016	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28435016C>T	uc002het.3	+	22	4678	c.4486C>T	c.(4486-4488)Cca>Tca	p.P1496S	EFCAB5_uc010cse.3_Missense_Mutation_p.P1251S|EFCAB5_uc010csf.3_Missense_Mutation_p.P847S	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1496							calcium ion binding	p.P1496A(2)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGCAAAAATGCCAGGGGAAGG	0.353000														106			19		0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33113457	33113457	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:33113457C>T	uc001iwm.1	+	10	1170	c.934C>T	c.(934-936)Cga>Tga	p.R312*	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwn.4_Nonsense_Mutation_p.R336*|C10orf68_uc010qei.1_Nonsense_Mutation_p.R284*|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	336										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GACTGATGAACGATTGCATAG	0.284000														69			14		0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415238	10415238	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10415238C>T	uc002gmo.3	-	13	1428	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	445	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R445L(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGTTGATGCGGGTGACCAT	0.463000														354			93		0	0	1	0	0
PEX6	5190	broad.mit.edu	37	6	42933437	42933437	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42933437G>T	uc003otf.3	-	12	2546	c.2453C>A	c.(2452-2454)tCt>tAt	p.S818Y	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	818					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			CACTCCTCCAGAATCTCCACT	0.547000														464			96		1.59228e-47	2.03082e-47	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215815716	215815716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215815716C>T	uc002vew.3	-	44	6959	c.6739G>A	c.(6739-6741)Ggt>Agt	p.G2247S	ABCA12_uc002vev.3_Missense_Mutation_p.G1929S|ABCA12_uc010zjn.2_Missense_Mutation_p.G1174S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2247					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)		TCAGCTGCACCACTCTCAACT	0.378000														189			36		0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26696370	26696370	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26696370C>T	uc002hbc.3	-	3	758	c.609G>A	c.(607-609)gaG>gaA	p.E203E	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	203	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.E203K(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CGATGGGGCCCTCGATGCCCC	0.587000														217			9		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841508	94841508	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:94841508A>C	uc002btj.3	+	0	79	c.14A>C	c.(13-15)aAa>aCa	p.K5T	MCTP2_uc010urg.1_Missense_Mutation_p.K5T|MCTP2_uc002bti.2_Missense_Mutation_p.K5T|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.K5T|MCTP2_uc002btg.4_Missense_Mutation_p.K5T|MCTP2_uc002bth.4_Missense_Mutation_p.K5T	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	5					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATCTGGATAAACCATCTGTT	0.433000														125			27		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242051830	242051830	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242051830G>A	uc002wao.2	-	14	3491	c.3358C>T	c.(3358-3360)Cgc>Tgc	p.R1120C	PASK_uc010zol.2_Missense_Mutation_p.R934C|PASK_uc010zom.2_Missense_Mutation_p.R1085C|PASK_uc010fzl.2_Missense_Mutation_p.R1127C|PASK_uc010zon.2_Missense_Mutation_p.R901C|PASK_uc021vzf.1_Missense_Mutation_p.R1120C	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1120	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.R1120C(3)		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)		TCCTTCAAGCGCAGGTATCCC	0.458000														65			18		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021414	51021414	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021414T>C	uc002pss.3	-	2	1693	c.1556A>G	c.(1555-1557)gAc>gGc	p.D519G		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCAGACACCGTCTGTCGTGGG	0.741000														64			14		0	0	1	0	0
CYP4V2	285440	broad.mit.edu	37	4	187130376	187130376	+	Missense_Mutation	SNP	G	A	A	rs149681054		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187130376G>A	uc003iyw.4	+	9	1659	c.1355G>A	c.(1354-1356)cGc>cAc	p.R452H	CYP4V2_uc010ism.3_Non-coding_Transcript	NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	452					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GCACAAGGGCGCCATCCATAT	0.542000														217			20		0	0	1	0	0
LOC284454	284454	broad.mit.edu	37	19	13947229	13947229	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13947229C>T	uc002mxi.4	-	0	245	c.224G>A	c.(223-225)cGc>cAc	p.R75H	FW420894_uc021upv.1_5'Flank					Homo sapiens uncharacterized LOC284454 (LOC284454), non-coding RNA.																		AGGGGACAGGCGGCAAGGCCA	0.637000														21			5		0	0	1	0	0
GTF2F1	2962	broad.mit.edu	37	19	6389591	6389591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6389591C>T	uc002meq.2	-	3	475	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	GTF2F1_uc010xjb.1_5'Flank|GTF2F1_uc010xjc.1_Missense_Mutation_p.E36K	NM_002096	NP_002087	P35269	T2FA_HUMAN	Homo sapiens general transcription factor IIF, polypeptide 1, 74kDa (GTF2F1), mRNA.	64					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	DNA binding|catalytic activity|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCGCCCGATTCGGGCATCTCC	0.612000														456			51		0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	461408	461408	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:461408C>T	uc002chb.3	+	7	815	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	DECR2_uc002chc.3_Nonsense_Mutation_p.Q153*|DECR2_uc002chd.3_Nonsense_Mutation_p.Q153*|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	237						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CAGCCCGCTGCAGAGGCTGGG	0.692000														147			34		0	0	1	0	0
FAP	2191	broad.mit.edu	37	2	163082066	163082066	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163082066G>A	uc002ucd.3	-	3	420	c.212C>T	c.(211-213)tCt>tTt	p.S71F	FAP_uc010zct.2_Missense_Mutation_p.S71F|FAP_uc010fpe.1_Missense_Mutation_p.S38F	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	71					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						GTTATCTGCAGATTGATGAAG	0.299000														60			16		0	0	1	0	0
NR2C1	7181	broad.mit.edu	37	12	95416132	95416132	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:95416132G>T	uc001tdm.4	-	13	1941	c.1685C>A	c.(1684-1686)gCt>gAt	p.A562D		NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AGTGATGGTAGCATTCATCAG	0.358000														188			26		7.07758e-08	7.69019e-08	1	1	0
TTYH2	94015	broad.mit.edu	37	17	72239532	72239532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72239532C>T	uc002jkc.3	+	4	686	c.655C>T	c.(655-657)Ctc>Ttc	p.L219F	TTYH2_uc010wqw.2_Missense_Mutation_p.L198F	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	219						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.L218L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTACCTCCTGCTCTTTATCCT	0.622000														158			42		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44671916	44671916	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44671916C>A	uc010zxl.1	+	8	1336	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.T397T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	420					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTGATATGACCTCCTACTTCA	0.567000														404			80		5.56462e-29	6.99381e-29	1	1	0
HOXA5	3202	broad.mit.edu	37	7	27182814	27182814	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27182814C>A	uc003syn.2	-	0	474	c.413G>T	c.(412-414)aGc>aTc	p.S138I	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	138					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTCTCTGCTGCTGATGTGGGT	0.746000														189			37		3.33393e-15	3.94119e-15	1	1	0
MAST4	375449	broad.mit.edu	37	5	66460375	66460375	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66460375C>T	uc021xzk.1	+	28	5676	c.5368C>T	c.(5368-5370)Ctg>Ttg	p.L1790L	MAST4_uc003jut.2_Silent_p.L1601L|MAST4_uc003juw.3_Silent_p.L1529L|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1793						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CGAGTATAAGCTGGAAGGTAG	0.592000														183			39		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66978725	66978725	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66978725C>A	uc002jhu.3	-	36	4841	c.4698G>T	c.(4696-4698)caG>caT	p.Q1566H	ABCA9_uc010dez.3_Missense_Mutation_p.Q1528H	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1566					transport	integral to membrane	ATP binding|ATPase activity	p.Q1566H(2)|p.S1565*(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGAAGAAAGCCTGTGATAAAG	0.418000														127			26		4.87955e-14	5.71551e-14	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71245970	71245970	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71245970G>A	uc003pfj.3	+	16	4106	c.3973G>A	c.(3973-3975)Gga>Aga	p.G1325R	FAM135A_uc003pfi.3_Missense_Mutation_p.G1129R|FAM135A_uc003pfh.3_Missense_Mutation_p.G1112R|FAM135A_uc003pfl.3_Missense_Mutation_p.G992R|FAM135A_uc003pfn.3_Missense_Mutation_p.G531R|FAM135A_uc003pfo.1_Missense_Mutation_p.G696R|FAM135A_uc010kan.2_Missense_Mutation_p.G104R	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1325										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGCTTTATTGGACATTCGTT	0.318000														57			11		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26964865	26964865	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26964865G>T	uc002hbu.3	-	13	1863	c.1760C>A	c.(1759-1761)tCt>tAt	p.S587Y		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	587						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACCAAGGCAGAAAGGGTAAA	0.488000														106			26		2.50493e-22	3.08673e-22	1	1	0
ANAPC4	29945	broad.mit.edu	37	4	25390499	25390499	+	Silent	SNP	C	T	T	rs140263991		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25390499C>T	uc003gro.3	+	6	639	c.510C>T	c.(508-510)gaC>gaT	p.D170D	ANAPC4_uc003grp.3_Silent_p.D55D|ANAPC4_uc010ieu.1_5'Flank|ANAPC4_uc010iet.1_5'Flank	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	170					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TCTTGGGAGACGTCAGGTAAA	0.294000														65			8		0	0	1	0	0
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107528697C>T	uc004bci.3	+	1	223	c.152C>T	c.(151-153)gCg>gTg	p.A51V	NIPSNAP3B_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_Non-coding_Transcript	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3B (C. elegans) (NIPSNAP3B), mRNA.	51										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AATATGAATGCGTTCATGGAA	0.388000														113			19		0	0	1	0	0
C9orf131	138724	broad.mit.edu	37	9	35044417	35044417	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35044417C>A	uc003zvw.3	+	1	1820	c.1791C>A	c.(1789-1791)tcC>tcA	p.S597S	C9orf131_uc003zvu.3_Silent_p.S549S|C9orf131_uc003zvv.3_Silent_p.S524S|C9orf131_uc003zvx.3_Silent_p.S562S	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	597										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CAAAAAACTCCTGGGCCTCTA	0.522000														232			69		2.02627e-32	2.55808e-32	1	1	0
KIAA1737	85457	broad.mit.edu	37	14	77576198	77576198	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77576198C>T	uc001xtd.3	+	2	359	c.180C>T	c.(178-180)tcC>tcT	p.S60S	KIAA1737_uc001xtc.1_5'UTR	NM_033426	NP_219494	Q9C0C6	K1737_HUMAN	Homo sapiens KIAA1737 (KIAA1737), mRNA.	60										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		AGATGGAGTCCGAGGACATGC	0.557000														138			31		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71236360	71236360	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71236360G>A	uc003pfj.3	+	12	3706	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	FAM135A_uc003pfi.3_Silent_p.S995S|FAM135A_uc003pfh.3_Silent_p.S978S|FAM135A_uc003pfl.3_Silent_p.S858S|FAM135A_uc003pfn.3_Silent_p.S397S|FAM135A_uc003pfo.1_Silent_p.S562S|FAM135A_uc010kan.2_5'Flank	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1191										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TCACTTCTTCGATTTCCTGGT	0.348000														103			18		0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870294	51870294	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:51870294C>T	uc002xwo.3	+	1	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_uc021wex.1_Silent_p.C96C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512000														101			22		0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1032601	1032601	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1032601G>A	uc002lqu.3	+	3	659	c.296G>A	c.(295-297)gGc>gAc	p.G99D	CNN2_uc002lqt.1_Missense_Mutation_p.G99D|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.3_Missense_Mutation_p.G99D|CNN2_uc010xgb.2_Missense_Mutation_p.G99D|CNN2_uc010xgc.2_Missense_Mutation_p.G99D	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	99	CH.				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCAGCTACGGCATGAACCCT	0.577000														110			22		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5268464	5268464	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5268464G>A	uc002gbm.4	+	10	1940	c.1716G>A	c.(1714-1716)gaG>gaA	p.E572E	RABEP1_uc010clc.1_Silent_p.E565E|RABEP1_uc010cld.1_Silent_p.E529E|RABEP1_uc010vsw.1_Silent_p.E529E|RABEP1_uc002gbl.4_Silent_p.E572E|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	572					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						ACCAGTTAGAGAAGACAATGA	0.383000														95			26		0	0	1	0	0
C2orf55	343990	broad.mit.edu	37	2	99438351	99438351	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99438351C>T	uc002szf.1	-	6	2679	c.2385G>A	c.(2383-2385)acG>acA	p.T795T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	795	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TTTTCTCCGCCGTCCTGGGCT	0.716000														55			17		0	0	1	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101570965	101570965	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101570965G>A	uc003dvp.3	+	1	441	c.326G>A	c.(325-327)gGc>gAc	p.G109D	NFKBIZ_uc003dvo.3_Missense_Mutation_p.G9D|NFKBIZ_uc010hpo.3_Missense_Mutation_p.G9D|NFKBIZ_uc003dvq.3_Missense_Mutation_p.G109D	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAGCAGAGAGGCCCCTTTCAA	0.433000														185			47		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577471	179577471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179577471C>T	uc021vsy.1	-	90	23774	c.23549G>A	c.(23548-23550)aGc>aAc	p.S7850N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4511N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8777							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)			AGCTTCATTGCTAACTATGCA	0.393000														76			18		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024580	45024580	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45024580C>T	uc010ejn.1	-	4	974	c.958G>A	c.(958-960)Ggg>Agg	p.G320R	CEACAM20_uc010ejo.1_Missense_Mutation_p.G320R|CEACAM20_uc010ejp.1_Missense_Mutation_p.G320R|CEACAM20_uc010ejq.1_Missense_Mutation_p.G320R	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	320	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCATAGGGCCCCGTGTCATTC	0.632000														70			27		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65971920	65971920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65971920C>T	uc002jgf.3	+	26	8633	c.8572C>T	c.(8572-8574)Cga>Tga	p.R2858*	BPTF_uc002jge.3_Nonsense_Mutation_p.R2841*|BPTF_uc021uca.1_Nonsense_Mutation_p.R658*|BPTF_uc002jgg.3_Nonsense_Mutation_p.R573*|BPTF_uc002jgh.3_Nonsense_Mutation_p.R375*	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2984					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTACAAAGACGATATTATGA	0.363000														77			20		0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92027950	92027950	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027950C>A	uc003ulw.2	+	19	3333	c.2957C>A	c.(2956-2958)gCc>gAc	p.A986D	ANKIB1_uc010lew.1_Missense_Mutation_p.A255D	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	986							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CAGAGTATTGCCCTGATTCCT	0.498000														132			33		4.31634e-10	4.84066e-10	1	1	0
NCKAP1	10787	broad.mit.edu	37	2	183850942	183850942	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:183850942T>C	uc002upc.3	-	9	1363	c.961A>G	c.(961-963)Att>Gtt	p.I321V	NCKAP1_uc002upb.3_Missense_Mutation_p.I327V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	321					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ATGTCATTAATACGTTTATTA	0.313000														40			7		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263542	39263542	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263542G>T	uc001uwv.3	+	0	2370	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	687					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.Q687R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCGGGCTACAGCGGTTTGTGA	0.557000														174			29		1.30897e-18	1.58338e-18	1	1	0
LRRC4B	94030	broad.mit.edu	37	19	51021887	51021887	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51021887G>T	uc002pss.3	-	2	1220	c.1083C>A	c.(1081-1083)tgC>tgA	p.C361*		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	361	LRRCT.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CGGGCGCATAGCAGGTGAAAT	0.667000														127			28		2.24059e-21	2.74853e-21	1	1	0
ARHGAP21	57584	broad.mit.edu	37	10	24889643	24889643	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24889643C>T	uc001isb.2	-	13	3551	c.3064G>A	c.(3064-3066)Gct>Act	p.A1022T	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.A1022T|ARHGAP21_uc010qdc.1_Missense_Mutation_p.A857T	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1021	Interaction with ARF1 and ARF6.|PH.				signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTGTCTTCAGCCTGAAACAGG	0.458000														145			40		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38141888	38141888	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38141888G>A	uc003chp.1	+	18	2857	c.2836G>A	c.(2836-2838)Gag>Aag	p.E946K	DLEC1_uc003cho.1_Missense_Mutation_p.E946K|DLEC1_uc010hgv.1_Missense_Mutation_p.E946K|DLEC1_uc003chr.1_Missense_Mutation_p.E52K|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	946					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GACCGTCCTGGAGCTGGAGGT	0.522000														171			41		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433683	179433683	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433683C>T	uc021vsy.1	-	274	69697	c.69472G>A	c.(69472-69474)Ggt>Agt	p.G23158S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G16853S|TTN_uc021vta.1_Missense_Mutation_p.G16786S|TTN_uc021vtb.1_Missense_Mutation_p.G16661S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24085	Ig-like 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.W23158*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTACTGCCACCATCATGTTCA	0.413000														205			23		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626734	5626734	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5626734G>A	uc001mbf.3	+	3	1034	c.771G>A	c.(769-771)tcG>tcA	p.S257S	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Silent_p.S203S|TRIM6-TRIM34_uc010qzj.2_Silent_p.S54S|TRIM6-TRIM34_uc001mbc.2_Silent_p.S229S|TRIM6-TRIM34_uc001mbe.3_Silent_p.S54S|TRIM6-TRIM34_uc001mbd.3_Silent_p.S257S|TRIM6-TRIM34_uc010qzk.2_Silent_p.S54S|TRIM6-TRIM34_uc010qzl.2_Silent_p.S54S|TRIM6-TRIM34_uc009yep.1_Silent_p.S54S	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	257						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGACCCAGTCGCTGCGAGAGC	0.537000											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		91			19		0	0	1	0	0
GPT2	84706	broad.mit.edu	37	16	46918680	46918680	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46918680G>T	uc002eel.3	+	1	147	c.53G>T	c.(52-54)aGc>aTc	p.S18I	GPT2_uc002eem.3_5'Flank	NM_133443	NP_001135938	Q8TD30	ALAT2_HUMAN	Homo sapiens glutamic pyruvate transaminase (alanine aminotransferase) 2 (GPT2), transcript variant 1, mRNA.	18					2-oxoglutarate metabolic process|L-alanine metabolic process|cellular amino acid biosynthetic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CGGACCCCCAGCTCCTGGGGC	0.721000														53			27		9.86323e-18	1.1857e-17	1	1	0
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84270731C>T	uc010voc.2	-	1	482	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_uc002fhu.1_Missense_Mutation_p.G121R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G121G(3)|p.F120F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622000														151			22		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14190224	14190224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14190224C>A	uc011ave.2	-	12	2362	c.2258G>T	c.(2257-2259)cGg>cTg	p.R753L	XPC_uc011avf.2_Missense_Mutation_p.R560L|XPC_uc011avg.2_Missense_Mutation_p.R716L	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	753	Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAACTCGTTCCGGGGCACCTG	0.602000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					80			21		1.42536e-11	1.62618e-11	1	1	0
TRO	7216	broad.mit.edu	37	X	54955207	54955207	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54955207G>A	uc004dtq.3	+	11	2157	c.2050G>A	c.(2050-2052)Gat>Aat	p.D684N	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.D215N|TRO_uc004dtw.3_Missense_Mutation_p.D287N|TRO_uc004dtx.3_Missense_Mutation_p.D67N	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	684					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ggATGACATGGATATCGACTG	0.537000														62			17		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392624	140392624	+	Missense_Mutation	SNP	G	A	A	rs148776350		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140392624G>A	uc010ncj.1	-	16	2168	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R586W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	586					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCGATTTGCCGCACGAAGGAC	0.627000														160			30		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47831953	47831953	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47831953C>A	uc002zji.4	+	27	6073	c.5966C>A	c.(5965-5967)gCt>gAt	p.A1989D	PCNT_uc002zjj.3_Missense_Mutation_p.A1871D	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	1989					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CATGATGCTGCTTTGGAGCCG	0.617000														84			14		6.31663e-08	6.86475e-08	1	1	0
GBA2	57704	broad.mit.edu	37	9	35739666	35739666	+	Missense_Mutation	SNP	C	T	T	rs148982744		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35739666C>T	uc011lpd.2	-	9	2058	c.1559G>A	c.(1558-1560)cGc>cAc	p.R520H	GBA2_uc003zxw.3_Missense_Mutation_p.R514H|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Missense_Mutation_p.R514H|GBA2_uc011lpc.1_Missense_Mutation_p.R514H|GBA2_uc003zxy.1_Missense_Mutation_p.R227H	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	514					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAGGGTGGGGCGGAGGTGACA	0.552000														76			8		0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117975511	117975511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117975511C>T	uc021qrd.1	+	4	707	c.416C>T	c.(415-417)gCc>gTc	p.A139V	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.A139V|TMPRSS4_uc010rxo.2_Missense_Mutation_p.A137V|TMPRSS4_uc010rxs.2_Missense_Mutation_p.A99V|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.A114V|TMPRSS4_uc010rxt.2_Missense_Mutation_p.A114V	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	139	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		GCTGAGACAGCCTGTAGGCAG	0.562000														95			12		0	0	1	0	0
C5orf25	375484	broad.mit.edu	37	5	175772213	175772213	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175772213G>A	uc003mds.4	+	11	2791	c.2384G>A	c.(2383-2385)cGa>cAa	p.R795Q	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Missense_Mutation_p.R380Q|C5orf25_uc003mdv.3_Missense_Mutation_p.R256Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	795												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GTGATCGACCGAAAGGACTTA	0.438000														143			58		0	0	1	0	0
ARFGEF2	10564	broad.mit.edu	37	20	47601357	47601357	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47601357C>T	uc002xtx.4	+	14	2202	c.2050C>T	c.(2050-2052)Cag>Tag	p.Q684*	ARFGEF2_uc010zyf.2_5'UTR	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	684	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			ATTCCTGCACCAGGAGGAGCG	0.517000														175			43		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2121812	2121812	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2121812T>C	uc002lva.3	-	11	1245	c.1022A>G	c.(1021-1023)cAc>cGc	p.H341R	AP3D1_uc002luy.3_Missense_Mutation_p.H250R|AP3D1_uc002luz.3_Missense_Mutation_p.H341R	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	341					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity	p.S340S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGTCCTTGTGGGACTGCAC	0.637000														321			61		0	0	1	0	0
GIT1	28964	broad.mit.edu	37	17	27909775	27909775	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27909775A>C	uc002heg.2	-	3	560	c.346T>G	c.(346-348)Ttt>Gtt	p.F116V	GIT1_uc002hef.2_Missense_Mutation_p.F116V|GIT1_uc010wbg.1_Missense_Mutation_p.F116V	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	116	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TTGTGCACAAATGCCAGCATC	0.587000														88			18		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179743450	179743450	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179743450A>C	uc003mlw.1	-	12	1262	c.1164T>G	c.(1162-1164)gtT>gtG	p.V388V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	388	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GTTCCTCCAAAACTTGCCGCG	0.498000														66			20		0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39294407	39294407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39294407C>T	uc002ojg.3	-	5	729	c.515G>A	c.(514-516)tGc>tAc	p.C172Y	LGALS4_uc010xuj.2_3'UTR	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	172					cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTGTTGATGGCAATGTCCGGG	0.607000														51			6		0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15466479	15466479	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15466479C>A	uc003bzs.1	-	2	601	c.343G>T	c.(343-345)Gcc>Tcc	p.A115S	METTL6_uc011avp.1_Intron|METTL6_uc003bzt.1_Missense_Mutation_p.A115S	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.	115							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						TATTCAATGGCTCTTGGAGAA	0.398000														103			22		2.39556e-15	2.83283e-15	1	1	0
EVPL	2125	broad.mit.edu	37	17	74017962	74017962	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74017962G>A	uc010wss.1	-	6	1021	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	EVPL_uc002jqi.2_Missense_Mutation_p.R265W|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	265	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TACTCCCGCCGCACGCCCGCA	0.756000														19			8		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101353865	101353865	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101353865T>G	uc001pgk.4	-	4	1750	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	TRPC6_uc009ywy.3_Missense_Mutation_p.K326T|TRPC6_uc009ywz.1_Missense_Mutation_p.K387T	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	442					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGCTACAAACTTCATGAATGG	0.413000														94			14		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140199	96140199	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96140199T>C	uc003hto.3	-	8	1919	c.1566A>G	c.(1564-1566)ctA>ctG	p.L522L	UNC5C_uc010ilc.2_Silent_p.L541L|UNC5C_uc003htq.3_Silent_p.L541L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	522					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTGCCTTGCTAGACTCTGGT	0.502000														129			31		0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042898	5042898	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5042898G>A	uc002gau.1	+	21	3657	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	USP6_uc002gav.1_Missense_Mutation_p.S476N|USP6_uc010ckz.1_Missense_Mutation_p.S159N|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	476					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R475Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGAATGGAGCTGCTGGGTC	0.592000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts									141			32		0	0	1	0	0
ARRDC1	92714	broad.mit.edu	37	9	140508087	140508087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508087G>A	uc004cnp.2	+	3	375	c.301G>A	c.(301-303)Gag>Aag	p.E101K	ARRDC1_uc004cns.3_Missense_Mutation_p.E101K|ARRDC1_uc004cnx.2_5'UTR			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	101										breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CACGTCCTTTGAGGGTCCTTT	0.597000														161			34		0	0	1	0	0
DHX58	79132	broad.mit.edu	37	17	40259654	40259654	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40259654C>T	uc002hyw.3	-	7	1188	c.965G>A	c.(964-966)tGt>tAt	p.C322Y	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Missense_Mutation_p.C315Y	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	322					innate immune response	cytoplasm	ATP binding|DNA binding|RNA binding|helicase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GCGCTCGGCACACAGGATCTG	0.662000														54			10		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48779509	48779509	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:48779509C>T	uc001zwx.2	-	28	3858	c.3463_splice	c.e28+1	p.D1155_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1155	EGF-like 18; calcium-binding.		D -> N (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTCTCCTTACCGATACACGCG	0.473000														119			27		0	0	1	0	0
ARHGEF37	389337	broad.mit.edu	37	5	148998539	148998539	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148998539C>T	uc003lra.1	+	6	892	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	276	BAR.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AAGAGAGGTTCCAGTGGGTGT	0.493000											OREG0016919	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		401			96		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227521	56227521	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227521G>A	uc002xyq.3	-	3	845	c.452C>T	c.(451-453)tCg>tTg	p.S151L	PMEPA1_uc002xyr.3_Missense_Mutation_p.S101L|PMEPA1_uc002xys.3_Missense_Mutation_p.S116L|PMEPA1_uc002xyt.3_Missense_Mutation_p.S101L	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	151					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GTCTGACAGCGAGATGGTGGG	0.701000														64			29		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030260	6030260	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6030260C>A	uc001qnm.2	-	2	540	c.468G>T	c.(466-468)gaG>gaT	p.E156D	ANO2_uc021qtt.1_Missense_Mutation_p.E160D	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	160						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCTCAAATTCCTCCCGCTGCT	0.607000														111			26		3.01185e-09	3.33505e-09	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97822802	97822802	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97822802C>A	uc003upd.2	+	10	3318	c.3025C>A	c.(3025-3027)Cta>Ata	p.L1009I		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1009					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCACGAAGCGCTACTGGACTC	0.587000														261			71		3.39796e-24	4.22042e-24	1	1	0
CELSR2	1952	broad.mit.edu	37	1	109811858	109811858	+	Missense_Mutation	SNP	G	A	A	rs150344250		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109811858G>A	uc001dxa.4	+	19	6819	c.6758G>A	c.(6757-6759)cGc>cAc	p.R2253H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2253					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCATCTACCGCACCCTGGCC	0.672000														137			12		0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161487866	161487866	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161487866G>A	uc001gan.3	+	6	935	c.882G>A	c.(880-882)agG>agA	p.R294R	FCGR2A_uc001gam.3_Silent_p.R293R|FCGR2A_uc021pcz.1_Non-coding_Transcript|FCGR2A_uc021pda.1_Non-coding_Transcript	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIa, receptor (CD32) (FCGR2A), transcript variant 1, mRNA.	294						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGAACCCCAGGGCACCTACTG	0.448000														138			27		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764149	77764149	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77764149T>A	uc003yau.2	+	9	5379	c.4992T>A	c.(4990-4992)caT>caA	p.H1664Q	ZFHX4_uc003yaw.1_Missense_Mutation_p.H1619Q	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1619	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1663N(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAGATACCCATTTAGATGCCA	0.448000										HNSCC(33;0.089)				137			17		0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327638	62327638	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62327638C>A	uc001ntm.1	-	8	1204	c.1058G>T	c.(1057-1059)aGg>aTg	p.R353M	EEF1G_uc010rlw.1_Missense_Mutation_p.R403M	NM_001404	NP_001395	P26641	EF1G_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 gamma (EEF1G), mRNA.	353	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCATTCTTCCTCAGCTTGTC	0.517000														92			11		3.86212e-05	4.026e-05	1	1	0
SLC37A3	84255	broad.mit.edu	37	7	140051074	140051074	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140051074G>A	uc003vvo.3	-	9	1048	c.882_splice	c.e9+1	p.P294_splice	SLC37A3_uc003vvp.3_Splice_Site_p.P294_splice|SLC37A3_uc010lnh.3_Splice_Site_p.P294_splice|SLC37A3_uc011kqz.2_Splice_Site|SLC37A3_uc011kra.1_Splice_Site|SLC37A3_uc011krb.1_Splice_Site	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	294					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)					GGTCCTTACCGGTATGACTCC	0.478000														77			11		0	0	1	0	0
C1QTNF6	114904	broad.mit.edu	37	22	37578293	37578293	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37578293A>G	uc003aqx.1	-	2	1035	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	C1QTNF6_uc003aqw.1_Missense_Mutation_p.Y239H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.Y258H|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	239	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TCGTTGCTGTAGATGGCGTTC	0.642000														93			19		0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161449	43161449	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161449C>T	uc011cpw.2	+	4	506	c.470C>T	c.(469-471)tCa>tTa	p.S157L	ZNF131_uc010ivl.1_Missense_Mutation_p.S157L|ZNF131_uc003jnj.4_5'UTR|ZNF131_uc003jnk.3_Missense_Mutation_p.S157L|ZNF131_uc003jnn.4_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	157						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCACTGAGTCATTGCCATCT	0.408000														115			23		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574052	140574052	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140574052C>A	uc003lix.3	+	0	2101	c.1927C>A	c.(1927-1929)Ctt>Att	p.L643I		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	643	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTCGTGGTGCTTGTCAAGGA	0.692000														94			48		2.23044e-30	2.80898e-30	1	1	0
GNAS	2778	broad.mit.edu	37	20	57429152	57429152	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57429152C>T	uc002xzw.3	+	0	1117	c.832C>T	c.(832-834)Cca>Tca	p.P278S	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCTCTGGGTCCCAGGCGCCAT	0.667000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				74			8		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076499	57076499	+	Missense_Mutation	SNP	G	A	A	rs139978039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076499G>A	uc001njr.3	-	4	3998	c.3686C>T	c.(3685-3687)tCt>tTt	p.S1229F	TNKS1BP1_uc001njs.3_Missense_Mutation_p.S1229F|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.S680F	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1229	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				ATTAACATCAGAAGTCCAGTC	0.582000														517			141		0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17265006	17265006	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17265006C>A	uc002zlv.3	-	3	981	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	XKR3_uc011agf.2_Nonsense_Mutation_p.E295*	NM_175878	NP_787074	Q5GH77	XKR3_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 3 (XKR3), mRNA.	295						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAATTATTTTCTTTGTTGCCA	0.423000														54			5		1.58986e-06	1.69271e-06	1	1	0
PPIC	5480	broad.mit.edu	37	5	122361664	122361664	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122361664C>A	uc003kth.3	-	4	431	c.326_splice	c.e4-1	p.G109_splice		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	109	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	ATGCTCACACCTGAGACAAAA	0.453000														40			9		0.000274275	0.000282808	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20404104	20404104	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20404104C>A	uc001vwj.2	+	0	338	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AGACTATCTCCTTTGAGGGTT	0.403000														210			28		7.41945e-09	8.17068e-09	1	1	0
SIGIRR	59307	broad.mit.edu	37	11	405971	405971	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:405971G>A	uc001lpg.3	-	7	1600	c.1447C>T	c.(1447-1449)Cgt>Tgt	p.R483C	SIGIRR_uc001lpd.2_Silent_p.D386D|SIGIRR_uc001lpf.2_Silent_p.D386D|SIGIRR_uc001lpe.1_Silent_p.D386D			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	0					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATCCGAGACGTCCACTTCGC	0.617000														49			11		0	0	1	0	0
C6orf106	64771	broad.mit.edu	37	6	34574651	34574651	+	Missense_Mutation	SNP	A	G	G	rs149349132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34574651A>G	uc003ojr.2	-	3	787	c.542T>C	c.(541-543)gTg>gCg	p.V181A	C6orf106_uc003ojs.2_Missense_Mutation_p.V115A	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN	Homo sapiens chromosome 6 open reading frame 106 (C6orf106), transcript variant 1, mRNA.	181										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						AAGTCCACCCACCTCCACACT	0.463000														123			17		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233122221	233122221	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233122221G>A	uc001hvl.2	-	32	6092	c.5857C>T	c.(5857-5859)Ctg>Ttg	p.L1953L	PCNXL2_uc001hvk.1_Silent_p.L605L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1953	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGAGCTCAGCATGGGCGGC	0.602000														31			7		0	0	1	0	0
QRICH1	54870	broad.mit.edu	37	3	49084009	49084009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49084009C>T	uc010hkq.3	-	5	1816	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	QRICH1_uc003cvu.3_Missense_Mutation_p.R507H|QRICH1_uc003cvv.3_Missense_Mutation_p.R507H	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	507										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CAGCAGTTGGCGCCCTGCAAC	0.512000														116			22		0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45145255	45145255	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45145255A>G	uc011kcd.2	-	2	602	c.553T>C	c.(553-555)Tgg>Cgg	p.W185R	TBRG4_uc003tmu.3_5'UTR|TBRG4_uc003tmv.3_Missense_Mutation_p.W174R|TBRG4_uc003tmw.3_Missense_Mutation_p.W174R|TBRG4_uc003tmx.3_Missense_Mutation_p.W174R|SNORA5A_uc003tmy.3_5'Flank|SNORA5C_uc003tmz.1_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	174					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CGCATGCGCCAGCGGACCTCC	0.632000														163			48		0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57089767	57089767	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57089767T>G	uc002iwy.4	-	21	3061	c.2617A>C	c.(2617-2619)Act>Cct	p.T873P	TRIM37_uc002iwz.4_Missense_Mutation_p.T873P|TRIM37_uc002ixa.4_Missense_Mutation_p.T751P|TRIM37_uc010woc.2_Missense_Mutation_p.T839P	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	873						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCAAATCAGTCATCTGCAGT	0.373000									Mulibrey Nanism					70			14		0	0	1	0	0
RIBC1	158787	broad.mit.edu	37	X	53456828	53456828	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53456828G>A	uc004dsk.3	+	5	775	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	RIBC1_uc011mog.1_Missense_Mutation_p.A76T	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	191										lung(2)	2						GCTGCGCCTCGCCATGGATGC	0.577000														69			18		0	0	1	0	0
UGDH	7358	broad.mit.edu	37	4	39523021	39523021	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39523021T>C	uc003guk.2	-	1	435	c.112A>G	c.(112-114)Aat>Gat	p.N38D	UGDH_uc011byp.2_Intron|UGDH_uc003gul.2_Missense_Mutation_p.N38D	NM_003359	NP_001171630	O60701	UGDH_HUMAN	Homo sapiens UDP-glucose 6-dehydrogenase (UGDH), transcript variant 1, mRNA.	38					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycosaminoglycan biosynthetic process|xenobiotic metabolic process	cytosol	NAD binding|UDP-glucose 6-dehydrogenase activity|electron carrier activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	CTTGATTCATTGACATCAACA	0.378000														104			30		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133933760	133933760	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:133933760A>C	uc003vrm.1	+	17	2146	c.2130A>C	c.(2128-2130)gaA>gaC	p.E710D		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	710							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTTTAGAAGAACTCTGGAAAA	0.368000														65			19		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701930	30701930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30701930G>A	uc003xil.3	-	0	4604	c.4604C>T	c.(4603-4605)cCg>cTg	p.P1535L		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1535										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTAAGCGGATTAGAAAC	0.353000														194			39		0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149128930	149128930	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149128930G>A	uc003wfv.3	-	5	2596	c.2433C>T	c.(2431-2433)tgC>tgT	p.C811C		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCACTTGGCGCAGTGCGTGC	0.721000														87			12		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793994	31793994	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31793994G>T	uc001zfq.3	-	7	1142	c.1049C>A	c.(1048-1050)cCt>cAt	p.P350H	OTUD7A_uc001zfr.3_Missense_Mutation_p.P357H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	350	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTGTTGGGAGGGACCTCCAA	0.577000														188			40		1.67305e-13	1.95074e-13	1	1	0
PIWIL2	55124	broad.mit.edu	37	8	22140627	22140627	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22140627A>C	uc003xbn.2	+	4	654	c.506A>C	c.(505-507)aAg>aCg	p.K169T	PIWIL2_uc011kzf.1_Missense_Mutation_p.K169T|PIWIL2_uc010ltv.2_Missense_Mutation_p.K169T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	169					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAAGTGGACAAGCCTCCCTGT	0.587000														88			17		0	0	1	0	0
MYO5B	4645	broad.mit.edu	37	18	47429162	47429162	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47429162C>T	uc002leb.2	-	20	2901	c.2613G>A	c.(2611-2613)gtG>gtA	p.V871V	MYO5B_uc002lea.2_Silent_p.V12V	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	871	Arg-rich.|IQ 5.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.V871L(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCCAGCCCCGCACGTGCTTCT	0.607000														86			23		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49680444	49680444	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49680444G>A	uc003cxe.4	+	2	1491	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	459					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGACCATGCCGAAGGAAAGGG	0.587000														92			7		0	0	1	0	0
MRPL15	29088	broad.mit.edu	37	8	55055274	55055274	+	Missense_Mutation	SNP	G	A	A	rs140295154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55055274G>A	uc003xsa.2	+	3	544	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	161					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			GTTGGCTTCAGAACTAGCTAT	0.393000														65			20		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77659170	77659170	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77659170A>T	uc010xfl.2	+	1	755	c.755A>T	c.(754-756)aAc>aTc	p.N252I		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	252					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGCCACTCAACATCATTGAC	0.682000														70			19		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693599	45693599	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45693599G>T	uc001wwf.3	-	10	2650	c.2191C>A	c.(2191-2193)Ctt>Att	p.L731I		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	731					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TCCTTTTCAAGGTTAGATATT	0.303000														69			23		1.96895e-08	2.15575e-08	1	1	0
PCDHB7	56129	broad.mit.edu	37	5	140554408	140554408	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554408C>T	uc003lit.3	+	0	2166	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	664	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGGTGGACGGCTTCTCCC	0.706000														603			54		0	0	1	0	0
CCDC112	153733	broad.mit.edu	37	5	114604698	114604698	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114604698C>A	uc003kqz.2	-	9	1647	c.1429_splice	c.e9-1	p.V477_splice	CCDC112_uc003kqy.2_Splice_Site_p.V394_splice|CCDC112_uc003kra.2_Splice_Site_p.V445_splice	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	394										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TGTTTTCAACCTGTAATCAGA	0.368000														69			11		4.68919e-08	5.11014e-08	1	1	0
TECTA	7007	broad.mit.edu	37	11	121000350	121000350	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121000350A>G	uc010rzo.2	+	8	2371	c.2371A>G	c.(2371-2373)Aat>Gat	p.N791D		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	791	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTTTCAGTTGAATGGTCAGGA	0.448000														132			25		0	0	1	0	0
ZNF311	282890	broad.mit.edu	37	6	28967386	28967386	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28967386G>A	uc003nlu.2	-	4	699	c.188C>T	c.(187-189)tCa>tTa	p.S63L	ZNF311_uc011dlk.1_5'UTR|ZNF311_uc003nlv.2_5'UTR	NM_001010877	NP_001010877	Q5JNZ3	ZN311_HUMAN	Homo sapiens zinc finger protein 311 (ZNF311), mRNA.	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						AAATGTCACTGACTCCTGAAA	0.438000														57			10		0	0	1	0	0
NFIC	4782	broad.mit.edu	37	19	3452485	3452485	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3452485G>A	uc010xhi.2	+	7	1160	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	NFIC_uc002lxo.3_Missense_Mutation_p.A355T|NFIC_uc010xhh.2_Missense_Mutation_p.A355T|NFIC_uc010xhj.2_Missense_Mutation_p.A364T|NFIC_uc002lxp.3_Missense_Mutation_p.A364T	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	364					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CGCAGGGATCGCCCGGAGCCC	0.652000														592			127		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572291	142572291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142572291C>T	uc003wbx.2	-	10	1634	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	TRPV6_uc003wbw.1_Missense_Mutation_p.A255T|TRPV6_uc010lou.1_Missense_Mutation_p.A340T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	469					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AATCCTCGGGCGAAGTACATG	0.592000														163			26		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622571	38622571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38622571G>A	uc021wvo.1	-	15	3131	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W	SCN5A_uc021wvk.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvl.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvm.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvn.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvp.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvq.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvr.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvs.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvt.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvu.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvv.1_Missense_Mutation_p.R1027W|SCN5A_uc021wvj.1_Missense_Mutation_p.R893W|SCN5A_uc021wvi.1_Missense_Mutation_p.R893W|SCN5A_uc021wvw.1_Missense_Mutation_p.R638W	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1027			R -> Q.		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCCTCAAACCGTGTTTCCTTG	0.667000														72			21		0	0	1	0	0
FMO3	2328	broad.mit.edu	37	1	171083225	171083225	+	Silent	SNP	C	T	T	rs2066536		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:171083225C>T	uc001ghi.3	+	6	1017	c.906C>T	c.(904-906)aaC>aaT	p.N302N	FMO3_uc001ghh.3_Silent_p.N302N|FMO3_uc010pmb.2_Silent_p.N282N|FMO3_uc010pmc.2_Silent_p.N239N	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	302					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAAGCCTAACGTGAAGGAAT	0.453000														92			33		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103292173	103292173	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103292173T>C	uc022ajr.1	-	14	1987	c.1827A>G	c.(1825-1827)ttA>ttG	p.L609L	RELN_uc022ajq.1_Silent_p.L609L|RELN_uc010liz.3_Silent_p.L609L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	609					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGATCTCAGGTAAGCATTCAG	0.483000														88			10		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7563014	7563014	+	Splice_Site	SNP	G	A	A	rs111295218		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7563014G>A	uc003mxp.1	+	5	1005	c.726_splice	c.e5+1	p.L242_splice	DSP_uc003mxq.1_Splice_Site_p.L242_splice|DSP_uc021yle.1_Splice_Site_p.L242_splice	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	242	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				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)		AGCCGACCTGGTACTTGTCTG	0.468000														146			37		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205716	88205716	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205716A>G	uc003dqw.3	+	2	1231	c.921A>G	c.(919-921)gtA>gtG	p.V307V		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	307					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TAATCACTGTATGTGGTACCA	0.398000														85			11		0	0	1	0	0
EIF4B	1975	broad.mit.edu	37	12	53421850	53421850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53421850G>A	uc001sbh.4	+	7	1063	c.857G>A	c.(856-858)cGc>cAc	p.R286H	EIF4B_uc010snu.2_Missense_Mutation_p.R286H|EIF4B_uc010snv.2_Missense_Mutation_p.R247H	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	286	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						AGTGGGTATCGCAGGGATGAT	0.498000														140			10		0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145725514	145725514	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145725514A>C	uc003zdd.3	+	4	1425	c.512A>C	c.(511-513)aAc>aCc	p.N171T	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.N171T	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	171						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACCGACGGGAACATGCCCTAT	0.657000														32			9		0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770357	152770357	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152770357T>C	uc021ozh.1	+	0	87	c.87T>C	c.(85-87)tgT>tgC	p.C29C	LCE1D_uc009wnp.3_Silent_p.C29C	NM_178352	NP_848129	Q5T752	LCE1D_HUMAN	Homo sapiens late cornified envelope 1D (LCE1D), mRNA.	29	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTAAATGTCCCCCTAAGT	0.657000														97			41		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137727028	137727028	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137727028G>A	uc004cfe.3	+	64	5730	c.5348G>A	c.(5347-5349)cGc>cAc	p.R1783H	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1783	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTACATCCGCGCCCTGGTG	0.667000														87			14		0	0	1	0	0
SEC23IP	11196	broad.mit.edu	37	10	121692654	121692654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121692654G>A	uc001leu.2	+	16	3106	c.2896G>A	c.(2896-2898)Gct>Act	p.A966T	SEC23IP_uc010qtc.2_Missense_Mutation_p.A755T|SEC23IP_uc009xzk.2_Non-coding_Transcript	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	966	DDHD.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ATACCTTTTCGCTCTTCAGAG	0.388000														103			20		0	0	1	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647644	79647644	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79647644C>T	uc010jaj.1	-	0		c.142G>A								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		GGCCCTCCAGCGTCTCCTTGT	0.582000														136			41		0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113088934	113088934	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113088934C>T	uc002thq.1	+	11	2833	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	813							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAAATGCTGGCACTAATGTCA	0.438000														143			29		0	0	1	0	0
PRL	5617	broad.mit.edu	37	6	22290448	22290448	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:22290448C>T	uc003ndp.3	-	3	966	c.447G>A	c.(445-447)gaG>gaA	p.E149E	PRL_uc003ndo.3_Silent_p.E150E|PRL_uc003ndq.3_Silent_p.E149E	NM_000948	NP_001157030	P01236	PRL_HUMAN	Homo sapiens prolactin (PRL), transcript variant 1, mRNA.	149					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTTTGGTTTGCTCCTCAATCT	0.502000														96			25		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783472	6783472	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783472A>G	uc003wqt.3	-	0	127	c.86T>C	c.(85-87)cTg>cCg	p.L29P		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	29					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TTTTGCCTGCAGTGGATCATC	0.572000														38			12		0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806742	143806742	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143806742G>A	uc011ktz.2	+	0	67	c.67G>A	c.(67-69)Gcg>Acg	p.A23T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TCCAGCACTGGCGATTCTCCT	0.512000														161			24		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87968743	87968743	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:87968743A>G	uc003plm.4	+	7	5437	c.5396A>G	c.(5395-5397)aAc>aGc	p.N1799S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1799					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTCAGTAAACACTGTGCAA	0.353000														29			3		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105189035	105189035	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105189035G>T	uc003vda.1	+	6	1105	c.874G>T	c.(874-876)Gaa>Taa	p.E292*	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	292	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCAACTCCCAGAAAAATACTC	0.423000														180			36		6.33695e-27	7.93012e-27	1	1	0
ARSB	411	broad.mit.edu	37	5	78264847	78264847	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78264847C>A	uc003kfq.3	-	1	1767	c.481G>T	c.(481-483)Gga>Tga	p.G161*	ARSB_uc003kfr.4_Nonsense_Mutation_p.G161*	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	161					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GTATCAAATCCTCGGCGGGTT	0.443000														194			24		6.36457e-07	6.82071e-07	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133119358	133119358	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:133119358C>A	uc003epn.1	+	0	569	c.431C>A	c.(430-432)gCc>gAc	p.A144D		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	144	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGAGCAAAGCCACACGCTCG	0.612000														65			17		1.15088e-07	1.24477e-07	1	1	0
SLIT1	6585	broad.mit.edu	37	10	98760969	98760969	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98760969C>T	uc001kmw.2	-	36	4757	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1502	CTCK.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCGCTTCAGCCGAAGGCCCTG	0.647000														314			67		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652461	152652461	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152652461G>A	uc021zhb.1	-	75	13582	c.13359C>T	c.(13357-13359)tcC>tcT	p.S4453S	SYNE1_uc003qot.4_Silent_p.S4382S|SYNE1_uc003qou.4_Silent_p.S4453S|SYNE1_uc010kiz.3_Silent_p.S208S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4453					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.S4453S(3)|p.S4382S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGTTTTCTCGGACAAGGCTT	0.478000										HNSCC(10;0.0054)				92			16		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124527965	124527965	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124527965C>A	uc003eho.3	-	8	1464	c.1167G>T	c.(1165-1167)caG>caT	p.Q389H	ITGB5_uc010hrx.3_Intron	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	389					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.D388Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GATCCTCAGGCTGATCCCAGA	0.483000														152			34		4.31634e-10	4.84066e-10	1	1	0
CSNK2A1	1457	broad.mit.edu	37	20	478425	478425	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:478425C>A	uc002wdw.1	-	7	760	c.367_splice	c.e7-1	p.Q123_splice	CSNK2A1_uc002wdx.1_Splice_Site_p.Q123_splice|CSNK2A1_uc002wdy.1_Splice_Site	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	123	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGTACAATTGCTGTTAAAGAC	0.343000														81			13		6.31663e-08	6.86475e-08	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150931242	150931242	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150931242C>T	uc003wjr.1	+	0	1658	c.145C>T	c.(145-147)Cga>Tga	p.R49*	CHPF2_uc003wjq.1_Nonsense_Mutation_p.R41*	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	49						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGTAGGGGAGCGAGGAGGGCC	0.592000														166			15		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15555769	15555769	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15555769C>T	uc002rcc.1	-	24	2864	c.2838G>A	c.(2836-2838)tcG>tcA	p.S946S	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	946										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CCACACCAGGCGACTGTTTCT	0.388000														118			40		0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100014052	100014052	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100014052A>C	uc003uut.3	-	6	755	c.507T>G	c.(505-507)atT>atG	p.I169M	ZCWPW1_uc011kjq.2_Missense_Mutation_p.I48M|ZCWPW1_uc003uur.3_Missense_Mutation_p.I48M|ZCWPW1_uc003uus.3_Missense_Mutation_p.I48M|ZCWPW1_uc011kjr.2_Missense_Mutation_p.I168M|ZCWPW1_uc003uuu.1_Missense_Mutation_p.I168M	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	169							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAGACACTGAAATCTCTTGAG	0.418000														94			23		0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233274394	233274394	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233274394G>A	uc002vss.4	+	10	1464	c.1411G>A	c.(1411-1413)Gtg>Atg	p.V471M		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	471					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGTTCACGGCGTGCAGGAGCA	0.721000														64			20		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101584320	101584320	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101584320C>T	uc001thz.4	-	5	1149	c.759G>A	c.(757-759)tgG>tgA	p.W253*		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	253					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGATGCTGGTCCATGTGAAGG	0.393000														103			29		0	0	1	0	0
PCIF1	63935	broad.mit.edu	37	20	44574362	44574362	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44574362C>T	uc002xqs.3	+	11	1495	c.1181C>T	c.(1180-1182)gCc>gTc	p.A394V	PCIF1_uc002xqt.3_5'UTR	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	394						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GAGGTGGAGGCCCCTGAGGTG	0.627000														118			25		0	0	1	0	0
FRMD6	122786	broad.mit.edu	37	14	52182142	52182142	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:52182142C>T	uc001wzd.3	+	9	1234	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	FRMD6_uc001wzb.3_Silent_p.L309L|FRMD6_uc001wzc.3_Silent_p.L309L|FRMD6_uc001wze.3_Silent_p.L240L|FRMD6_uc001wzf.3_Silent_p.L10L|FRMD6_uc001wzg.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	317	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCTGCAACTTCTGAGCAACAG	0.542000														135			38		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3807335	3807335	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3807335G>T	uc002cvv.3	-	18	3856	c.3652C>A	c.(3652-3654)Ctg>Atg	p.L1218M	CREBBP_uc002cvw.3_Missense_Mutation_p.L1180M	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1218	Cys/His-rich.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATGGTACACAGCTGCTTCCCA	0.413000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							31			9		0.000442599	0.000455268	1	1	0
KBTBD8	84541	broad.mit.edu	37	3	67058487	67058487	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:67058487G>A	uc003dmy.3	+	3	1537	c.1484G>A	c.(1483-1485)cGt>cAt	p.R495H	KBTBD8_uc011bfv.2_Missense_Mutation_p.R53H	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	495										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AATCATCAACGTATGTTTACT	0.403000														139			30		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124177323	124177323	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177323C>A	uc003iez.4	+	14	2566	c.2493C>A	c.(2491-2493)taC>taA	p.Y831*		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	831					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CCGACGCATACTCAGGAGCAG	0.448000														120			18		1.02788e-11	1.17486e-11	1	1	0
CDH20	28316	broad.mit.edu	37	18	59221564	59221564	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59221564C>T	uc010dps.1	+	10	2194	c.2042C>T	c.(2041-2043)gCg>gTg	p.A681V	CDH20_uc002lif.2_Missense_Mutation_p.A675V	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	681					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TTCGACATCGCGGCCATGTGG	0.667000														303			61		0	0	1	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2389901	2389901	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2389901G>A	uc010xgx.2	+	0	118	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	TMPRSS9_uc002lvv.1_Missense_Mutation_p.V40I	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	40					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCCTTGTCGTCCTCACCCT	0.592000														157			20		0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959524	75959524	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75959524C>T	uc011kgj.1	-	1	331	c.114G>A	c.(112-114)tcG>tcA	p.S38S		NM_012479	NP_036611	P61981	1433G_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide (YWHAG), mRNA.	38					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	p.S38L(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						GTTCCTCATTCGACAGTGGCT	0.502000														94			18		0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57839196	57839196	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57839196G>T	uc002qoi.2	+	3	723	c.366G>T	c.(364-366)aaG>aaT	p.K122N		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGCAATCCAAGGATCAGGATG	0.507000														98			12		2.80697e-09	3.10977e-09	1	1	0
KCNH7	90134	broad.mit.edu	37	2	163374395	163374395	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:163374395C>T	uc002uch.2	-	3	966	c.737G>A	c.(736-738)cGa>cAa	p.R246Q	KCNH7_uc002uci.3_Missense_Mutation_p.R246Q	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	246					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.R246Q(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGGTAGAGTCGGTCCCATTG	0.478000														131			52		0	0	1	0	0
TGFBR3	7049	broad.mit.edu	37	1	92200439	92200439	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92200439G>T	uc001doh.3	-	4	977	c.462C>A	c.(460-462)ccC>ccA	p.P154P	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.P112P|TGFBR3_uc001doi.3_Silent_p.P154P|TGFBR3_uc001doj.3_Silent_p.P154P	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	154					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	PDZ domain binding|SMAD binding|coreceptor activity|heparin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CATTTCCATGGGGGAAGTTCC	0.413000														159			40		8.16277e-20	9.93979e-20	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33879849	33879849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879849C>T	uc021wck.1	-	0	377	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	87										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			TCAGGGCCCCCGCGCACATGG	0.677000														166			9		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681006	100681006	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100681006A>G	uc003uxp.1	+	2	6362	c.6309A>G	c.(6307-6309)ctA>ctG	p.L2103L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2103	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)					GAAGTCCTCTACTAACAAGTA	0.498000														487			115		0	0	1	0	0
BMS1	9790	broad.mit.edu	37	10	43315745	43315745	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43315745G>A	uc001jaj.3	+	15	3000	c.2642G>A	c.(2641-2643)cGa>cAa	p.R881Q		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	881					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAGGGTTTTCGACCTGGGATG	0.448000														179			35		0	0	1	0	0
CYB5RL	606495	broad.mit.edu	37	1	54640324	54640324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54640324C>T	uc009vzo.3	-	7	1236	c.916G>A	c.(916-918)Ggc>Agc	p.G306S	CYB5RL_uc001cww.3_Missense_Mutation_p.G196S|CYB5RL_uc001cwy.4_Missense_Mutation_p.G158S|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	306							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						TCAGTGAGGCCTGCGCACAGT	0.557000														34			3		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39777719	39777719	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39777719G>T	uc003axq.4	+	3	564	c.502G>T	c.(502-504)Gcc>Tcc	p.A168S	TAB1_uc003axr.3_Intron	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGCTGTGCTGGCCTTCCAGCG	0.652000														169			41		8.01111e-26	9.99355e-26	1	1	0
ACAN	176	broad.mit.edu	37	15	89398733	89398733	+	Missense_Mutation	SNP	C	A	A	rs141525827	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89398733C>A	uc010upo.1	+	11	3291	c.2917C>A	c.(2917-2919)Ctc>Atc	p.L973I	ACAN_uc010upp.1_Missense_Mutation_p.L973I|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	973					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTAGGAGACCTCAGTGGGCT	0.557000														366			80		1.39159e-27	1.74406e-27	1	1	0
LRP1	4035	broad.mit.edu	37	12	57577289	57577289	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57577289C>T	uc001snd.3	+	34	6256	c.5790C>T	c.(5788-5790)caC>caT	p.H1930H		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1930					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCGACTTCCACGCTGGTGAGC	0.602000														63			14		0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533141	94533141	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94533141G>T	uc001pfb.3	+	2	955	c.785G>T	c.(784-786)aGc>aTc	p.S262I	AMOTL1_uc001pfc.3_Missense_Mutation_p.S212I	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	262						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CGCTCGCTCAGCGAGAGAATC	0.622000														140			29		9.80776e-20	1.19282e-19	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66217294	66217294	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66217294A>G	uc003hcy.3	-	13	2514	c.2321T>C	c.(2320-2322)gTg>gCg	p.V774A	EPHA5_uc003hcx.3_Missense_Mutation_p.V706A|EPHA5_uc003hcz.3_Missense_Mutation_p.V752A|EPHA5_uc011cah.2_Missense_Mutation_p.V775A|EPHA5_uc011cai.2_Missense_Mutation_p.V753A|EPHA5_uc003hda.2_Missense_Mutation_p.V775A	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	774	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAGCTGAATCACAGTGAACTG	0.423000										TSP Lung(17;0.13)				85			21		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124885186	124885186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124885186G>A	uc021rga.1	-	14	1791	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	NCOR2_uc021rgb.1_Silent_p.N558N|NCOR2_uc010tbb.2_Silent_p.N558N|NCOR2_uc010tbc.2_Silent_p.N557N|NCOR2_uc021rgc.1_Silent_p.N557N|NCOR2_uc010tba.2_Silent_p.N558N|NCOR2_uc001ugj.1_Silent_p.N558N	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	558					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCTTCTCGTCGTTGTCCTCCC	0.587000														245			50		0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140714984	140714984	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:140714984G>T	uc003yvf.1	-	0	316	c.252C>A	c.(250-252)ttC>ttA	p.F84L	KCNK9_uc003yvg.1_Missense_Mutation_p.F84L	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	84						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCGCAAAGTAGAAGGAGCCGG	0.677000														63			10		7.48243e-07	8.00842e-07	1	1	0
DPPA3	359787	broad.mit.edu	37	14	36840771	36840771	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:36840771A>C	uc001wtp.3	+	0	402	c.153A>C	c.(151-153)gaA>gaC	p.E51D		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	51			E -> Q (in dbSNP:rs2024320).			cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CTAGTAGCGAATCTGTTTCCC	0.498000														23			8		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52418934	52418934	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52418934G>A	uc011bef.2	+	52	8716	c.8455G>A	c.(8455-8457)Ggg>Agg	p.G2819R	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2819	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATCCTCATCGGGCAGAAGAA	0.567000											OREG0015612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		54			10		0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23812378	23812378	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23812378T>C	uc001ywh.4	+	0	1925	c.1449T>C	c.(1447-1449)gaT>gaC	p.D483D	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Intron	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	483						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CACTGAGAGATGAGTTACCCT	0.458000														230			46		0	0	1	0	0
NKAIN3	286183	broad.mit.edu	37	8	63659620	63659620	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63659620G>A	uc010lyq.1	+	3	535	c.403G>A	c.(403-405)Gtc>Atc	p.V135I		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	135						integral to membrane|plasma membrane		p.V135D(1)		kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GTACGTCTCTGTCACAGGCTG	0.493000														60			15		0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111678315	111678315	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111678315C>T	uc003puy.4	-	17	7427	c.7086G>A	c.(7084-7086)caG>caA	p.Q2362Q	REV3L_uc003pux.4_Silent_p.Q2284Q|REV3L_uc003puz.4_Silent_p.Q2284Q|REV3L_uc003pva.1_Non-coding_Transcript	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	2362					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTAATGGAGTCTGATATCTGA	0.269000								DNA polymerases (catalytic subunits)						59			11		0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46563770	46563770	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46563770G>T	uc003oyf.1	-	7	1223	c.1019C>A	c.(1018-1020)gCt>gAt	p.A340D	CYP39A1_uc011dwa.1_Missense_Mutation_p.A320D|CYP39A1_uc010jzd.1_Missense_Mutation_p.A168D	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	340					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GACACCAGGAGCTTTTAAACG	0.343000														79			21		1.10513e-12	1.27896e-12	1	1	0
ZNF134	7693	broad.mit.edu	37	19	58132057	58132057	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58132057A>G	uc002qpn.2	+	2	669	c.570A>G	c.(568-570)acA>acG	p.T190T	ZNF134_uc002qpo.2_Silent_p.T17T|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	190						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCAAAGACACACTTGTCCAGC	0.488000														76			16		0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50804952	50804952	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50804952G>A	uc010enu.1	+	39	5551	c.5504G>A	c.(5503-5505)cGc>cAc	p.R1835H	MYH14_uc002prq.1_Missense_Mutation_p.R1802H|MYH14_uc002prr.1_Missense_Mutation_p.R1794H|MYH14_uc010ycb.2_Missense_Mutation_p.R145H|MYH14_uc002prs.1_Missense_Mutation_p.R145H	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1794					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TCAGCTGAGCGCAGTTTCTCA	0.612000														126			24		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42139603	42139603	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42139603C>T	uc001zoo.4	+	23	2749	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P	JMJD7-PLA2G4B_uc010bcn.3_Intron|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.P373P|JMJD7-PLA2G4B_uc010bco.3_Silent_p.P672P	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	672					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						CGCCCAGCCCCGAAGAGCAGC	0.677000														447			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140306644	140306644	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140306644G>A	uc003lih.2	+	0	343	c.167G>A	c.(166-168)cGc>cAc	p.R56H	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_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.R56H	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(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)			CGGAACTTTCGCTTCCTTTCC	0.647000														82			16		0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413296	182413296	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182413296T>G	uc002unx.3	-	8	1288	c.1187A>C	c.(1186-1188)aAc>aCc	p.N396T	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.N370T|CERKL_uc010zfm.2_Missense_Mutation_p.N352T|CERKL_uc002unz.3_Missense_Mutation_p.N118T|CERKL_uc002uoa.3_Missense_Mutation_p.N301T|CERKL_uc002uob.3_Missense_Mutation_p.N118T|CERKL_uc002uoc.3_Missense_Mutation_p.N257T|CERKL_uc021vth.1_Missense_Mutation_p.N165T|CERKL_uc021vti.1_Missense_Mutation_p.N118T|CERKL_uc021vtj.1_Missense_Mutation_p.N73T|CERKL_uc021vtk.1_Missense_Mutation_p.N118T|CERKL_uc021vtl.1_Missense_Mutation_p.N73T|CERKL_uc021vtm.1_Missense_Mutation_p.N165T|CERKL_uc002uod.2_Missense_Mutation_p.N165T|CERKL_uc002uoe.3_Missense_Mutation_p.N370T|CERKL_uc002unw.3_5'Flank	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	396					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATCAGAGCTGTTAAATGGTAA	0.303000														38			11		0	0	1	0	0
GPER	2852	broad.mit.edu	37	7	1131452	1131452	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1131452G>A	uc010ksd.1	+	1	477	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.E30K|GPER_uc003ska.1_Missense_Mutation_p.E30K|GPER_uc003skb.2_Missense_Mutation_p.E30K|GPER_uc021zyo.1_Missense_Mutation_p.E30K	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	30						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CACCTCCCCCGAGCTCAACCT	0.672000														159			18		0	0	1	0	0
ZNF563	147837	broad.mit.edu	37	19	12429836	12429836	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12429836G>A	uc002mtp.3	-	3	1241	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*		NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTATGAGGTCGATCTCCAGTG	0.418000														223			49		0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14743812	14743812	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14743812A>C	uc002mzi.4	-	12	1712	c.1564T>G	c.(1564-1566)Ttg>Gtg	p.L522V	EMR3_uc010dzp.3_Missense_Mutation_p.L470V|EMR3_uc010xnv.2_Missense_Mutation_p.L396V	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	522					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AAGATAAACAATACTAAATTC	0.403000														41			12		0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112454579	112454579	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:112454579A>G	uc003pvu.2	-	26	3977	c.3668T>C	c.(3667-3669)gTt>gCt	p.V1223A	LAMA4_uc003pvv.2_Missense_Mutation_p.V1216A|LAMA4_uc003pvt.2_Missense_Mutation_p.V1216A	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1223	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCATAACCAACTCCCAGGGT	0.423000														145			31		0	0	1	0	0
FCHO1	23149	broad.mit.edu	37	19	17873639	17873639	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17873639G>A	uc002nhg.3	+	4	375	c.96G>A	c.(94-96)gaG>gaA	p.E32E	FCHO1_uc010ebb.2_Silent_p.E32E|FCHO1_uc002nhh.2_Silent_p.E32E|FCHO1_uc010xpw.1_5'UTR|FCHO1_uc010ebc.1_Silent_p.E39E	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	32	FCH.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CCACCAAGGAGCTGGCGGACT	0.597000														156			28		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77756523	77756523	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77756523T>G	uc003ugx.3	-	18	3668	c.3414A>C	c.(3412-3414)agA>agC	p.R1138S	MAGI2_uc003ugy.3_Missense_Mutation_p.R1124S|MAGI2_uc010ldx.1_Missense_Mutation_p.R731S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1138						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTGGGGTTGTCTGTAGTCCG	0.592000														241			22		0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779809	18779809	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18779809G>A	uc002njz.1	+	2	1629	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	534										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						ACTATGTGCCGGAGACGGACC	0.677000														186			32		0	0	1	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967886	76967886	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76967886G>A	uc002jwh.3	-	5	1709	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	LGALS3BP_uc002jwi.3_Silent_p.G316G	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	510					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)			GATCTGAGCCGCCAGACTTGG	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			25		0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66857032	66857032	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66857032G>A	uc002aqc.3	-	1	396	c.264C>T	c.(262-264)gaC>gaT	p.D88D	LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	88					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.D88D(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTAGTAGCCGTCACAGGCTA	0.597000														128			35		0	0	1	0	0
HEATR4	399671	broad.mit.edu	37	14	73967357	73967357	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73967357G>A	uc021rwe.1	-	11	2531	c.2183C>T	c.(2182-2184)gCc>gTc	p.A728V	HEATR4_uc021rwf.1_Missense_Mutation_p.A681V|HEATR4_uc010tub.1_Missense_Mutation_p.A728V	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GAGAAGCTTGGCGGTCATAAG	0.552000														127			30		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701746	48701746	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48701746G>T	uc002irk.1	+	36	6627	c.6255G>T	c.(6253-6255)caG>caT	p.Q2085H	CACNA1G_uc002irj.1_Missense_Mutation_p.Q1958H|CACNA1G_uc002irl.1_Missense_Mutation_p.Q1969H|CACNA1G_uc002irm.1_Missense_Mutation_p.Q2006H|CACNA1G_uc002irn.1_Missense_Mutation_p.Q1951H|CACNA1G_uc002iro.1_Missense_Mutation_p.Q1958H|CACNA1G_uc002irp.1_Missense_Mutation_p.Q2040H|CACNA1G_uc002irq.1_Missense_Mutation_p.Q2062H|CACNA1G_uc002irr.1_Missense_Mutation_p.Q1992H|CACNA1G_uc002irs.1_Missense_Mutation_p.Q2029H|CACNA1G_uc002irt.1_Missense_Mutation_p.Q1974H|CACNA1G_uc002iru.1_Missense_Mutation_p.Q2051H|CACNA1G_uc002irv.1_Missense_Mutation_p.Q1981H|CACNA1G_uc002irw.1_Missense_Mutation_p.Q2014H|CACNA1G_uc002irx.1_Missense_Mutation_p.Q1905H|CACNA1G_uc002iry.1_Missense_Mutation_p.Q1894H|CACNA1G_uc002isg.1_Missense_Mutation_p.Q1853H|CACNA1G_uc002ish.1_Missense_Mutation_p.Q1860H|CACNA1G_uc002isi.1_Missense_Mutation_p.Q1848H|CACNA1G_uc002irz.1_Missense_Mutation_p.Q1898H|CACNA1G_uc002isa.1_Missense_Mutation_p.Q1871H|CACNA1G_uc002isd.1_Missense_Mutation_p.Q1880H|CACNA1G_uc002isb.1_Missense_Mutation_p.Q1912H|CACNA1G_uc002isc.1_Missense_Mutation_p.Q1987H|CACNA1G_uc002ise.1_Missense_Mutation_p.Q1908H|CACNA1G_uc002isf.1_Missense_Mutation_p.Q1935H	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2085					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TTCACTCCCAGCCAGCAGATA	0.637000														18			3		0.115264	0.115636	1	1	0
NADSYN1	55191	broad.mit.edu	37	11	71183494	71183494	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71183494G>T	uc001oqn.3	+	6	534	c.408_splice	c.e6-1	p.R136_splice	NADSYN1_uc001oqm.3_Splice_Site|NADSYN1_uc001oqo.3_Splice_Site	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	136	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTCCTCTCCAGGCACACAGAG	0.512000														85			14		7.93312e-07	8.47869e-07	1	1	0
LENG8	114823	broad.mit.edu	37	19	54966209	54966209	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54966209C>T	uc002qfv.1	+	5	792	c.648C>T	c.(646-648)aaC>aaT	p.N216N	LENG8_uc002qfw.2_Silent_p.N253N			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	216							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TTGGCTCCAACGCAGAGGGCC	0.607000														106			25		0	0	1	0	0
MIS18A	54069	broad.mit.edu	37	21	33651204	33651204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33651204C>T	uc002ypi.3	-	0	173	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	Homo sapiens MIS18 kinetochore protein homolog A (S. pombe) (MIS18A), mRNA.	41					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CAGCTGGTGGCGGCTCGAGTC	0.647000														79			9		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49071930	49071930	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49071930C>T	uc004dnb.3	-	27	3405	c.3343G>A	c.(3343-3345)Gtg>Atg	p.V1115M	CACNA1F_uc010nip.3_Missense_Mutation_p.V1104M	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1115	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGAAGAACACTGAGATCTCC	0.507000														32			13		0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46691677	46691677	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46691677C>T	uc002inw.3	-	0	625	c.390G>A	c.(388-390)tcG>tcA	p.S130S		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GCTGTGTGGGCGACGGGCTCT	0.726000														58			15		0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413684	178413684	+	Missense_Mutation	SNP	G	T	T	rs143491269	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413684G>T	uc003mjr.3	-	7	1750	c.1571C>A	c.(1570-1572)cCg>cAg	p.P524Q	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.P107Q|GRM6_uc003mjs.1_Missense_Mutation_p.P144Q	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	524					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCGCTCCCCCGGCCCGCAGGG	0.677000														111			50		8.04919e-23	9.93784e-23	1	1	0
DNM1L	10059	broad.mit.edu	37	12	32895632	32895632	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32895632G>T	uc010skh.1	+	19	2304	c.2302G>T	c.(2302-2304)Gaa>Taa	p.E768*	DNM1L_uc001rld.2_Nonsense_Mutation_p.E702*|DNM1L_uc001rle.2_Nonsense_Mutation_p.E676*|DNM1L_uc001rlf.2_Nonsense_Mutation_p.E665*|DNM1L_uc001rlg.2_Nonsense_Mutation_p.E757*|DNM1L_uc001rlh.2_Nonsense_Mutation_p.E744*|DNM1L_uc010ski.1_Nonsense_Mutation_p.E499*	NM_012062	NP_036192	O00429	DNM1L_HUMAN	Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA.	702					cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TCTTCTGACAGAATCTGAGGA	0.393000														135			18		0.00074312	0.000761759	1	1	0
ATP2C2	9914	broad.mit.edu	37	16	84485577	84485577	+	Missense_Mutation	SNP	C	A	A	rs146513346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84485577C>A	uc010chj.3	+	17	1800	c.1711C>A	c.(1711-1713)Ctt>Att	p.L571I	ATP2C2_uc002fhx.3_Missense_Mutation_p.L571I|ATP2C2_uc002fhy.3_Missense_Mutation_p.L588I|ATP2C2_uc002fhz.3_Missense_Mutation_p.L420I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	571					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTTTCTCGGTCTTGTGGGCAT	0.627000														384			24		1.10513e-12	1.27896e-12	1	1	0
MATN4	8785	broad.mit.edu	37	20	43933168	43933168	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43933168G>T	uc002xnn.2	-	2	530	c.343C>A	c.(343-345)Ctg>Atg	p.L115M	MATN4_uc002xnp.2_Missense_Mutation_p.L115M|MATN4_uc002xno.2_Missense_Mutation_p.L115M|MATN4_uc010zwr.1_Missense_Mutation_p.L63M|MATN4_uc002xnr.1_Missense_Mutation_p.L115M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	115	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGGATTGCCAGTCCCGTCATG	0.677000														48			16		3.52763e-06	3.73571e-06	1	1	0
QSER1	79832	broad.mit.edu	37	11	32955888	32955888	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32955888G>A	uc001mty.3	+	3	2964	c.2697G>A	c.(2695-2697)gtG>gtA	p.V899V	QSER1_uc001mtz.1_Silent_p.V660V|QSER1_uc001mua.3_Silent_p.V404V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	899										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCAGGCATGTGACTTCAGATT	0.373000														93			22		0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50357048	50357048	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50357048G>A	uc003czx.3	-	0	3166	c.873C>T	c.(871-873)taC>taT	p.Y291Y	HYAL2_uc003czw.3_Silent_p.Y291Y|HYAL2_uc003czv.3_Silent_p.Y291Y|HYAL2_uc010hlj.2_Silent_p.Y291Y	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	291						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	GTGTGAAGACGTAGACTGGGA	0.592000														66			16		0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122459627	122459627	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122459627G>T	uc003efu.2	-	7	1171	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	HSPBAP1_uc003eft.2_Silent_p.I55I	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	344						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAGTGCTTGGATTTCTACTA	0.448000														243			56		2.76378e-25	3.44376e-25	1	1	0
LRRC8C	84230	broad.mit.edu	37	1	90178779	90178779	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90178779C>A	uc001dnl.4	+	2	892	c.650C>A	c.(649-651)cCt>cAt	p.P217H		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	217						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		AAGTCCATTCCTGAGAAGTTT	0.453000														86			11		0.000978159	0.0010017	1	1	0
ZNF835	90485	broad.mit.edu	37	19	57175789	57175789	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175789G>A	uc010ygn.2	-	1	1005	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GAGGAGAAGCGGAAGGCCTTG	0.672000														58			14		0	0	1	0	0
TICAM1	148022	broad.mit.edu	37	19	4817507	4817507	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4817507C>A	uc002mbi.3	-	1	1134	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	TICAM1_uc021unj.1_Nonsense_Mutation_p.E295*	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	295	Pro-rich.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTGCTGGTTTCTGGAGCTGCG	0.637000														87			15		7.93312e-07	8.47869e-07	1	1	0
CER1	9350	broad.mit.edu	37	9	14720322	14720322	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14720322G>A	uc003zlj.3	-	1	615	c.570C>T	c.(568-570)tgC>tgT	p.C190C		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	190	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GAACAGACCCGCATTTCCCAA	0.458000														80			25		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950898	26950898	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950898C>T	uc002rhn.2	+	1	810	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	216					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTGCAGACGCAGCCGCAG	0.607000														109			18		0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9541430	9541430	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9541430G>A	uc002qzh.2	+	26	3191	c.2851G>A	c.(2851-2853)Gcg>Acg	p.A951T	ASAP2_uc002qzi.2_Missense_Mutation_p.A906T	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	951	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GCGGGTGAAAGCGCTCTATAA	0.592000														153			31		0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190347219	190347219	+	Missense_Mutation	SNP	G	A	A	rs142111398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190347219G>A	uc010hzg.2	+	9	1404	c.983G>A	c.(982-984)cGc>cAc	p.R328H	IL1RAP_uc003fsk.3_Missense_Mutation_p.R328H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R328H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R328H|IL1RAP_uc003fso.2_Missense_Mutation_p.R328H|IL1RAP_uc003fsn.2_Intron|IL1RAP_uc003fsp.2_Intron|IL1RAP_uc003fsq.3_Missense_Mutation_p.R328H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	328	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GATCTCAAGCGCAGCTATGTC	0.418000														31			12		0	0	1	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111896285	111896285	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111896285T>C	uc001vrs.2	+	7	1139	c.889T>C	c.(889-891)Tac>Cac	p.Y297H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.Y276H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.Y247H|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Missense_Mutation_p.Y119H|ARHGEF7_uc001vrw.4_Missense_Mutation_p.Y119H|ARHGEF7_uc001vrx.4_Missense_Mutation_p.Y119H|ARHGEF7_uc010tjo.2_Missense_Mutation_p.Y194H|ARHGEF7_uc010tjp.1_Missense_Mutation_p.Y41H|ARHGEF7_uc010agn.1_Missense_Mutation_p.Y41H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	297	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GCTTTCAACGTACCTACGGCC	0.323000														35			8		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2795331	2795331	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2795331G>T	uc009zdu.1	+	48	6243	c.5930_splice	c.e48-1	p.G1977_splice	CACNA1C_uc001qkc.2_Splice_Site_p.G1913_splice|CACNA1C_uc001qjz.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qkd.2_Splice_Site_p.G1913_splice|CACNA1C_uc001qke.2_Splice_Site_p.G1883_splice|CACNA1C_uc001qkf.2_Splice_Site_p.G1902_splice|CACNA1C_uc009zdw.1_Splice_Site_p.G1935_splice|CACNA1C_uc001qkg.2_Splice_Site_p.G1900_splice|CACNA1C_uc001qkh.2_Splice_Site_p.G1902_splice|CACNA1C_uc001qkl.2_Splice_Site_p.G1942_splice|CACNA1C_uc001qkj.2_Splice_Site_p.G1929_splice|CACNA1C_uc001qkk.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qkn.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qkm.2_Splice_Site_p.G1954_splice|CACNA1C_uc001qko.2_Splice_Site_p.G1914_splice|CACNA1C_uc001qkp.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qkq.2_Splice_Site_p.G1922_splice|CACNA1C_uc001qku.2_Splice_Site_p.G1929_splice|CACNA1C_uc001qkr.2_Splice_Site_p.G1911_splice|CACNA1C_uc001qks.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qkt.2_Splice_Site_p.G1913_splice|CACNA1C_uc009zdv.1_Splice_Site_p.G1891_splice|CACNA1C_uc001qkb.2_Splice_Site_p.G1894_splice|CACNA1C_uc001qki.1_Splice_Site_p.G1701_splice|CACNA1C_uc010sea.1_Splice_Site_p.G585_splice|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Splice_Site_p.G212_splice	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1977					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGGCTTTGCAGGTCGAAGGGC	0.577000														142			33		1.80694e-10	2.03462e-10	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11650903	11650903	+	Missense_Mutation	SNP	C	T	T	rs138652506		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11650903C>T	uc002gne.3	+	31	6498	c.6430C>T	c.(6430-6432)Cgg>Tgg	p.R2144W	DNAH9_uc010coo.3_Missense_Mutation_p.R1438W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2144	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTGGCTGTGCGGCACTCTGT	0.592000														82			20		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94044282	94044282	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94044282G>A	uc001ybv.1	+	14	1858	c.1775G>A	c.(1774-1776)cGt>cAt	p.R592H	UNC79_uc001ybs.1_Missense_Mutation_p.R592H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	769						integral to membrane		p.R769H(1)|p.R592H(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTCCTTTGCGTAGTCCGTTT	0.438000														244			66		0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98823297	98823297	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98823297G>A	uc001kmw.2	-	7	960	c.708C>T	c.(706-708)atC>atT	p.I236I	SLIT1_uc009xvh.1_Silent_p.I236I	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	236	LRRCT 1.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TGAAGAGCCCGATGGTTGGCC	0.647000														59			16		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671318	144671318	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144671318C>T	uc003yyq.2	-	0	1313	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	EEF1D_uc003yyp.2_Missense_Mutation_p.A312T|EEF1D_uc011lki.2_Intron|EEF1D_uc003yyv.3_Intron|EEF1D_uc003yyu.3_Intron|EEF1D_uc011lkk.2_Intron|EEF1D_uc003yyt.3_Missense_Mutation_p.A312T|EEF1D_uc003yyr.3_Missense_Mutation_p.A312T|EEF1D_uc003yys.3_Intron|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCTGCATCCTTCTGC	0.697000														44			11		0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61715367	61715367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61715367C>T	uc010ypn.2	-	19	2375	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	XPO1_uc010fcl.3_Missense_Mutation_p.R745Q|XPO1_uc002sbj.3_Missense_Mutation_p.R749Q|XPO1_uc002sbk.3_Missense_Mutation_p.R310Q|XPO1_uc002sbh.3_Missense_Mutation_p.R396Q	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	749					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity	p.R749Q(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTTTACAGTTCGCATACTTCT	0.363000			Mis		CLL									124			23		0	0	1	0	0
NUP188	23511	broad.mit.edu	37	9	131730896	131730896	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131730896C>T	uc004bws.1	+	8	719	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	233					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CAGTGACTTACTTGTATTAAC	0.428000														129			34		0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23433311G>A	uc002wtf.1	-	0	172	c.138C>T	c.(136-138)gaC>gaT	p.D46D	CST11_uc002wtg.1_Silent_p.D46D	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	46					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473000														226			53		0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109278775	109278775	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278775C>A	uc001tnr.4	+	2	663	c.-8_splice	c.e2-1		DAO_uc001tnq.4_Splice_Site|DAO_uc009zvb.3_Splice_Site|DAO_uc001tns.4_Splice_Site	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.						glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						TTCCCACAGGCTGCTGCAATG	0.572000														127			31		7.11191e-15	8.38269e-15	1	1	0
PCNT	5116	broad.mit.edu	37	21	47766794	47766794	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47766794C>T	uc002zji.4	+	4	965	c.858C>T	c.(856-858)agC>agT	p.S286S	PCNT_uc002zjj.3_Silent_p.S168S|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	286	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCTCAACAGCCGGCGTGCCC	0.642000														28			7		0	0	1	0	0
ASMT	438	broad.mit.edu	37	X	1746651	1746651	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1746651A>C	uc004cqd.3	+	4	646	c.430A>C	c.(430-432)Acg>Ccg	p.T144P	ASMT_uc010ncy.3_Missense_Mutation_p.T144P|ASMT_uc004cqe.3_Missense_Mutation_p.T144P	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	144					melatonin biosynthetic process|translation	cytosol	S-methyltransferase activity|acetylserotonin O-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGCTTTTTACGGCCATCTA	0.393000														237			72		0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939500	14939500	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939500T>C	uc021png.1	+	2	939	c.833T>C	c.(832-834)aTg>aCg	p.M278T	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.M218T|SUV39H2_uc001ini.3_Missense_Mutation_p.M218T|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.M218T	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	278	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AGTTTTGTCATGGAATATGTT	0.373000														93			23		0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96061420	96061420	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96061420G>A	uc004ati.1	+	24	6103	c.6103G>A	c.(6103-6105)Gca>Aca	p.A2035T	WNK2_uc011lud.1_Missense_Mutation_p.A1998T|WNK2_uc004atj.3_Missense_Mutation_p.A1998T|WNK2_uc004atk.3_Intron|WNK2_uc004atl.1_Missense_Mutation_p.A592T	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2035					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGGGCTCACTGCAGACAGCAC	0.672000														87			11		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237733	132237733	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237733G>A	uc002tsu.4	+	3	660	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	156					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCATGGAGCGGCTCTCAGTG	0.587000														226			80		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691258	7691258	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691258C>A	uc002giu.1	+	41	6698	c.6684C>A	c.(6682-6684)gaC>gaA	p.D2228E		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2228	AAA 2 (By similarity).				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)				TCTACACTGACTACGCTGACC	0.547000														126			15		1.52009e-12	1.75732e-12	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101536359	101536359	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101536359G>A	uc004ayu.3	-	8	1642	c.1621C>T	c.(1621-1623)Cga>Tga	p.R541*	ANKS6_uc004ayv.2_Nonsense_Mutation_p.R3*|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Nonsense_Mutation_p.R240*	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	541								p.R541Q(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GCTCCGTTTCGAAGCTGAAAA	0.557000														83			15		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994977	140994977	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994977C>T	uc004fbt.3	+	3	2111	c.1787C>T	c.(1786-1788)cCt>cTt	p.P596L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P255L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	596							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACTACTTTCCTCAGAGCCCT	0.577000										HNSCC(15;0.026)				553			145		0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75663366	75663366	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75663366T>C	uc002feq.3	-	11	1546	c.1498A>G	c.(1498-1500)Act>Gct	p.T500A	KARS_uc002fer.3_Missense_Mutation_p.T528A	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	500					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTCAGCTCAGTATACGCATTG	0.517000														335			30		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4720350	4720350	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4720350G>A	uc002fzc.3	+	16	1827	c.1701_splice	c.e16+1	p.K567_splice	PLD2_uc010vsj.2_Splice_Site_p.K424_splice|PLD2_uc002fzd.3_Splice_Site_p.K567_splice	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	567	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACTTCACCAAGGTGTTCATTC	0.647000														212			65		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183713625	183713625	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183713625C>A	uc003ivd.1	+	24	5875	c.5800C>A	c.(5800-5802)Ctt>Att	p.L1934I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1934					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)		GGAAGGGCTGCTTCTACAAAC	0.478000														110			19		1.50039e-11	1.71053e-11	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84651710	84651710	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:84651710T>C	uc003uic.3	-	10	1451	c.1411A>G	c.(1411-1413)Aca>Gca	p.T471A	SEMA3D_uc010led.3_Missense_Mutation_p.T471A|SEMA3D_uc003uib.3_Missense_Mutation_p.T110A	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	471	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTACCTGTTCCAAGAAAC	0.328000														218			54		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184297593	184297593	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184297593C>T	uc003foz.3	+	10	2480	c.2043C>T	c.(2041-2043)agC>agT	p.S681S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACTTCCTAAGCGAGGCCTCCA	0.582000														156			31		0	0	1	0	0
FAHD1	81889	broad.mit.edu	37	16	1877337	1877337	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1877337G>T	uc002cnc.1	+	0	113	c.107G>T	c.(106-108)aGc>aTc	p.S36I	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Missense_Mutation_p.S36I|FAHD1_uc010brz.3_Missense_Mutation_p.S36I	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	36						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GAGATGCGCAGCGCGGTGTTG	0.647000														114			25		1.64293e-13	1.91604e-13	1	1	0
ACBD3	64746	broad.mit.edu	37	1	226347059	226347059	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226347059C>A	uc001hpy.3	-	5	776	c.729_splice	c.e5-1	p.K243_splice		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	243	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		TTATCTGCTGCCTAAAAACAT	0.388000														113			22		9.95505e-16	1.18146e-15	1	1	0
MMS19	64210	broad.mit.edu	37	10	99236652	99236652	+	Missense_Mutation	SNP	G	A	A	rs143513996		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99236652G>A	uc001kns.4	-	6	787	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	MMS19_uc009xvt.3_Missense_Mutation_p.R30C|MMS19_uc001knr.3_Missense_Mutation_p.R30C|MMS19_uc010qox.2_Intron|MMS19_uc001knt.3_Missense_Mutation_p.R188C|MMS19_uc001knu.1_Non-coding_Transcript	NM_022362	NP_071757	Q96T76	MMS19_HUMAN	Homo sapiens MMS19 nucleotide excision repair homolog (S. cerevisiae) (MMS19), mRNA.	188					chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	MMXD complex|cytoplasm|holo TFIIH complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		AGAAGATTACGGGGATCCTTT	0.488000								Direct reversal of damage						97			22		0	0	1	0	0
STC1	6781	broad.mit.edu	37	8	23709021	23709021	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23709021G>T	uc003xdw.1	-	2	569	c.285C>A	c.(283-285)agC>agA	p.S95R		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	95					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.E94Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGCATTTTAAGCTCTCTTTGA	0.502000														90			18		3.52763e-06	3.73571e-06	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129030537	129030537	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129030537A>C	uc003kvb.1	+	18	2925	c.2925A>C	c.(2923-2925)ccA>ccC	p.P975P	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	975	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGAGCAACCATGTCAAACAA	0.373000														124			34		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737313	74737313	+	Missense_Mutation	SNP	A	G	G	rs143283898		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74737313A>G	uc001dge.2	+	6	735	c.668A>G	c.(667-669)cAc>cGc	p.H223R	FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.H223R|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.H223R|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.H122R	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	122						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCTCTGCTTCACAGTGGAGCT	0.448000														188			10		0	0	1	0	0
STEAP2	261729	broad.mit.edu	37	7	89861714	89861714	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89861714C>T	uc010len.3	+	5	1755	c.1249C>T	c.(1249-1251)Cga>Tga	p.R417*	STEAP2_uc003uka.3_Nonsense_Mutation_p.R417*|STEAP2_uc003ujz.3_Nonsense_Mutation_p.R417*|STEAP2_uc003ukc.3_Intron|STEAP2_uc003ukb.3_Nonsense_Mutation_p.R417*|STEAP2_uc003ukd.3_Nonsense_Mutation_p.R417*	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	417					Golgi to plasma membrane transport|electron transport chain|endocytosis|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TGGATGGAAACGAGCTTTTGA	0.363000														44			5		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197404736	197404736	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197404736T>G	uc001gtz.3	+	8	3952	c.3743T>G	c.(3742-3744)tTt>tGt	p.F1248C	CRB1_uc010poz.2_Missense_Mutation_p.F1224C|CRB1_uc009wza.3_Missense_Mutation_p.F1136C|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.F712C|CRB1_uc010ppd.2_Missense_Mutation_p.F729C|CRB1_uc001gub.1_Missense_Mutation_p.F897C	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1248	EGF-like 17.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACAGGAAAATTTTGCAGGTGA	0.408000														32			4		0	0	1	0	0
PDLIM4	8572	broad.mit.edu	37	5	131607209	131607209	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131607209C>A	uc003kwo.3	+	4	797	c.720C>A	c.(718-720)tgC>tgA	p.C240*	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Intron|PDLIM4_uc003kwp.3_Intron	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	0							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCTGCAGTGCCCAGGTTGCC	0.672000														66			18		3.52763e-06	3.73571e-06	1	1	0
PARD3	56288	broad.mit.edu	37	10	34400149	34400149	+	Missense_Mutation	SNP	G	A	A	rs144433754		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:34400149G>A	uc010qej.2	-	24	4349	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	PARD3_uc010qep.2_Missense_Mutation_p.A1250V|PARD3_uc010qeq.2_Missense_Mutation_p.A1228V|PARD3_uc010qek.2_Missense_Mutation_p.A1337V|PARD3_uc010qel.2_Missense_Mutation_p.A1303V|PARD3_uc010qem.2_Missense_Mutation_p.A1324V|PARD3_uc010qen.2_Missense_Mutation_p.A1294V|PARD3_uc010qeo.2_Missense_Mutation_p.A1257V	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	1340					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GTTCAGCCTCGCAACCTGAGA	0.542000														116			22		0	0	1	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517703	158517703	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158517703A>G	uc010pil.2	-	0	193	c.193T>C	c.(193-195)Tac>Cac	p.Y65H		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAAGAAGTACATGGGCTTA	0.463000														79			32		0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89016716	89016716	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89016716G>A	uc003hrg.3	-	13	2186	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	ABCG2_uc003hrh.3_Silent_p.G561G|ABCG2_uc003hrf.3_Silent_p.L433L	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	565	ABC transmembrane type-2.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGCCATGACAGCCAAGATGCA	0.408000														53			9		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64520359	64520359	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64520359G>T	uc001xgl.3	+	47	9958	c.9728G>T	c.(9727-9729)aGc>aTc	p.S3243I	SYNE2_uc001xgm.3_Missense_Mutation_p.S3243I|SYNE2_uc021ruh.1_Missense_Mutation_p.S3276I|SYNE2_uc010apw.1_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3243					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTTAACACAAGCATTGATTTG	0.453000														92			23		1.85244e-09	2.0593e-09	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152485435	152485435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152485435C>T	uc021zhb.1	-	128	23876	c.23653G>A	c.(23653-23655)Gta>Ata	p.V7885I	SYNE1_uc003qos.4_Missense_Mutation_p.V2409I|SYNE1_uc003qot.4_Missense_Mutation_p.V7814I|SYNE1_uc003qou.4_Missense_Mutation_p.V7885I|SYNE1_uc011eez.2_Missense_Mutation_p.V87I|SYNE1_uc003qoq.4_Missense_Mutation_p.V87I|SYNE1_uc003qor.4_Missense_Mutation_p.V785I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7885					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCACGGCTACCAGGGTCTCC	0.552000										HNSCC(10;0.0054)				124			36		0	0	1	0	0
PIP5K1P1	206426	broad.mit.edu	37	6	7987756	7987756	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7987756C>T	uc003mxx.4	+	0	1422	c.987C>T	c.(985-987)agC>agT	p.S329S	TXNDC5_uc003mxw.3_Intron					Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, pseudogene 1 (PIP5K1P1), non-coding RNA.																		CCTTAAGCAGCGACACTCTTC	0.507000														41			14		0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75840677	75840677	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:75840677C>T	uc021zbv.1	-	34	5993	c.5958G>A	c.(5956-5958)acG>acA	p.T1986T	COL12A1_uc021zbw.1_Silent_p.T822T|COL12A1_uc003phs.3_Silent_p.T1986T|COL12A1_uc003pht.3_Silent_p.T822T	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1986	Fibronectin type-III 15.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GCACCATGCGCGTGTTTCCTG	0.507000														147			24		0	0	1	0	0
AKAP8	10270	broad.mit.edu	37	19	15484043	15484043	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15484043G>A	uc002nav.3	-	4	550	c.480C>T	c.(478-480)tcC>tcT	p.S160S	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	160					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CATTGCGGTCGGACCCCAGGT	0.667000														120			30		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227216862	227216862	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227216862G>A	uc001hqr.3	-	28	4766	c.3823C>T	c.(3823-3825)Cgt>Tgt	p.R1275C	CDC42BPA_uc001hqq.3_Missense_Mutation_p.R574C|CDC42BPA_uc001hqs.3_Missense_Mutation_p.R1194C|CDC42BPA_uc009xes.3_Missense_Mutation_p.R1247C|CDC42BPA_uc010pvs.2_Missense_Mutation_p.R1255C|CDC42BPA_uc001hqp.3_Missense_Mutation_p.R431C|CDC42BPA_uc001hqt.2_Missense_Mutation_p.R153C|CDC42BPA_uc001hqu.1_Missense_Mutation_p.R482C	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1288	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CGTACATGACGATTTCGTCCT	0.393000														70			16		0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370342	129370342	+	Missense_Mutation	SNP	G	T	T	rs114782689	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129370342G>T	uc021xdy.1	-	5	2378	c.1944C>A	c.(1942-1944)ttC>ttA	p.F648L	TMCC1_uc003emy.4_Missense_Mutation_p.F324L|TMCC1_uc011blc.2_Missense_Mutation_p.F469L|TMCC1_uc010htg.3_Missense_Mutation_p.F534L	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	648						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGGATGAAAAGAACCGTTCCA	0.493000														176			31		3.67414e-24	4.56162e-24	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29644056	29644056	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29644056G>A	uc001rix.1	-	4	524	c.524C>T	c.(523-525)tCc>tTc	p.S175F		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	175	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCATCCACTGGATAAGCAAAG	0.408000														77			13		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75114202	75114202	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75114202C>T	uc002ayt.1	+	9	1094	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	LMAN1L_uc010bke.1_Silent_p.T352T	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	364						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTCCATCCACCCCAGGGAGGG	0.607000														156			35		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120602181	120602181	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120602181C>A	uc001txo.3	-	17	1820	c.1807G>T	c.(1807-1809)Gga>Tga	p.G603*		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	603					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCAAGAGTCCGTGCGCCAGC	0.607000														264			54		5.13769e-22	6.32237e-22	1	1	0
GSS	2937	broad.mit.edu	37	20	33517274	33517274	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33517274G>A	uc002xbg.3	-	11	1311	c.1231C>T	c.(1231-1233)Cta>Tta	p.L411L	GSS_uc010zun.2_Silent_p.L283L|GSS_uc010zuo.2_Silent_p.L300L|GSS_uc010zup.2_Silent_p.L342L|GSS_uc010gez.1_Silent_p.L141L	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	411					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	CCAGGCCGTAGCAGGCAATTC	0.547000														355			86		0	0	1	0	0
MAP2K7	5609	broad.mit.edu	37	19	7975916	7975916	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7975916G>A	uc002mit.3	+	6	792	c.727G>A	c.(727-729)Gac>Aac	p.D243N	MAP2K7_uc002miv.2_Missense_Mutation_p.D243N|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Missense_Mutation_p.D118N|MAP2K7_uc010xkb.2_Missense_Mutation_p.D243N	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	243	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	CATCCACCGCGACGTCAAGCC	0.632000														116			31		0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217493	26217493	+	Silent	SNP	T	G	G	rs143862810		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26217493T>G	uc003nha.1	+	0	346	c.291T>G	c.(289-291)ctT>ctG	p.L97L	HIST1H2BG_uc003ngz.2_5'Flank	NM_021052	NP_066390	P04908	H2A1B_HUMAN	Homo sapiens histone cluster 1, H2ae (HIST1H2AE), mRNA.	97					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TAAATAAGCTTCTAGGTCGCG	0.592000														156			34		0	0	1	0	0
CDC34	997	broad.mit.edu	37	19	535886	535886	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:535886G>A	uc002lov.3	+	1	426	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGCCTTTCGGTTCCTGACC	0.647000														617			144		0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25232657	25232657	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:25232657G>T	uc001rgh.3	+	7	1298	c.204G>T	c.(202-204)gaG>gaT	p.E68D	LRMP_uc001rgg.2_Non-coding_Transcript|LRMP_uc010sja.2_Missense_Mutation_p.E68D|LRMP_uc010sjc.2_Missense_Mutation_p.E68D|LRMP_uc001rgi.3_Non-coding_Transcript|LRMP_uc010sjb.2_Missense_Mutation_p.E15D|LRMP_uc010sjd.2_Missense_Mutation_p.E15D	NM_006152	NP_006143	Q12912	LRMP_HUMAN	Homo sapiens lymphoid-restricted membrane protein (LRMP), transcript variant 1, mRNA.	124					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTAAGAAAGAGGAGGATACAA	0.403000														66			12		5.50884e-06	5.8131e-06	1	1	0
ZNF554	115196	broad.mit.edu	37	19	2834613	2834613	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2834613C>T	uc002lwm.2	+	4	1578	c.1380C>T	c.(1378-1380)ggC>ggT	p.G460G	ZNF554_uc002lwl.2_Silent_p.G409G	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACACGGGCGAGAACCCCT	0.547000														80			13		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160099109	160099109	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160099109C>A	uc001fvc.3	+	10	1512	c.1380C>A	c.(1378-1380)ctC>ctA	p.L460L	ATP1A2_uc001fvb.2_Silent_p.L460L|ATP1A2_uc001fvd.3_Silent_p.L196L|ATP1A2_uc009wtg.1_Silent_p.L148L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	460					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCATTGAGCTCTCCTGTGGCT	0.532000														276			65		1.74971e-23	2.16752e-23	1	1	0
DIP2B	57609	broad.mit.edu	37	12	51068306	51068306	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51068306A>G	uc001rwv.3	+	5	846	c.690A>G	c.(688-690)tcA>tcG	p.S230S	DIP2B_uc001rwu.3_Silent_p.S230S|DIP2B_uc009zls.2_Silent_p.S112S	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	230	Ser-rich.					nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTTCCTCCTCATCATCTTCCT	0.448000														100			16		0	0	1	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	104999178	104999178	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:104999178G>T	uc004elz.1	+	9	1956	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	400	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAGACAACAAGGAATATGATG	0.383000														64			17		1.56452e-12	1.80666e-12	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152642447	152642447	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152642447G>T	uc021zhb.1	-	81	16385	c.16162C>A	c.(16162-16164)Ctt>Att	p.L5388I	SYNE1_uc003qos.4_5'Flank|SYNE1_uc003qot.4_Missense_Mutation_p.L5317I|SYNE1_uc003qou.4_Missense_Mutation_p.L5388I|SYNE1_uc010kiz.3_Missense_Mutation_p.L1143I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5388					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATGGTATAAAGACCTAAGTAC	0.388000										HNSCC(10;0.0054)				33			8		5.18039e-06	5.47662e-06	1	1	0
SLC5A8	160728	broad.mit.edu	37	12	101576692	101576692	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101576692T>C	uc001thz.4	-	9	1443	c.1053_splice	c.e9-1	p.S351_splice		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	351					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GAGGACACTGTGCTGTAAGGG	0.348000														93			7		0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2499376	2499376	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2499376T>C	uc002cqd.1	+	11	1400	c.1312T>C	c.(1312-1314)Tcc>Ccc	p.S438P	CCNF_uc002cqe.1_Missense_Mutation_p.S130P	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	438					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CTGCGAGCTCTCCCTGCTGCA	0.652000														122			32		0	0	1	0	0
HSPA4L	22824	broad.mit.edu	37	4	128715243	128715243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:128715243C>T	uc003ifm.3	+	1	372	c.119C>T	c.(118-120)tCa>tTa	p.S40L	HSPA4L_uc010iny.1_Missense_Mutation_p.S40L|HSPA4L_uc011cgr.2_Missense_Mutation_p.S7L	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	40					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCCTGTATATCATTGGGATCA	0.328000														142			24		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46281440	46281440	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281440C>A	uc002pdi.1	-	6	884	c.698G>T	c.(697-699)gGc>gTc	p.G233V	DMPK_uc010xxs.1_Missense_Mutation_p.G118V|DMPK_uc002pdd.1_Missense_Mutation_p.G217V|DMPK_uc002pde.1_Missense_Mutation_p.G217V|DMPK_uc002pdg.1_Missense_Mutation_p.G207V|DMPK_uc002pdf.1_Missense_Mutation_p.G207V|DMPK_uc002pdh.1_Missense_Mutation_p.G207V|DMPK_uc010xxt.1_Missense_Mutation_p.G207V	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	217	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGGATGTGGCCACAGCGGTC	0.607000														51			6		0.00116845	0.00119477	1	1	0
DNM1P46	196968	broad.mit.edu	37	15	100333050	100333050	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100333050G>T	uc021sxl.1	-	1		c.103C>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		ACAGCGTGGAGCACCCAGGCT	0.562000														167			26		4.59853e-10	5.14677e-10	1	1	0
HNRNPUL2	221092	broad.mit.edu	37	11	62491420	62491420	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62491420C>A	uc001nuw.3	-	2	946	c.717G>T	c.(715-717)gaG>gaT	p.E239D	HNRNPUL2_uc001nuu.2_Non-coding_Transcript	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	239	B30.2/SPRY.|Glu-rich.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GATCCTCCTCCTCATCTTTTG	0.393000														186			11		6.40141e-05	6.6609e-05	1	1	0
CHMP7	91782	broad.mit.edu	37	8	23106877	23106877	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23106877G>A	uc003xdc.2	+	2	1102	c.454G>A	c.(454-456)Gct>Act	p.A152T	CHMP7_uc011kzs.1_Intron|CHMP7_uc003xdd.2_Missense_Mutation_p.A42T	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	152					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GGTCCTTGTCGCTGTGGAGCT	0.537000														66			11		0	0	1	0	0
C6orf15	29113	broad.mit.edu	37	6	31079554	31079554	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31079554G>A	uc003nsk.1	-	1	582	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	194										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						ACCAGGGAGGGCGTTGGGAAA	0.617000														102			32		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56504351	56504351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56504351G>A	uc003pcy.4	-	6	1253	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	DST_uc021zay.1_Missense_Mutation_p.A748V|DST_uc011dxl.1_Missense_Mutation_p.A737V|DST_uc021zax.1_Missense_Mutation_p.A382V|DST_uc003pdc.4_Missense_Mutation_p.A382V|DST_uc003pdd.4_Missense_Mutation_p.A382V|DST_uc003pde.2_Missense_Mutation_p.A824V	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	708					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCATTAGTCGCACGACTTAC	0.353000														91			28		0	0	1	0	0
BANF1	8815	broad.mit.edu	37	11	65770776	65770776	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65770776C>A	uc001ogo.3	+	1	563	c.55C>A	c.(55-57)Cca>Aca	p.P19T	EIF1AD_uc021qlr.1_5'Flank|EIF1AD_uc001ogm.2_5'Flank|EIF1AD_uc021qls.1_5'Flank|EIF1AD_uc021qlt.1_5'Flank|EIF1AD_uc021qlu.1_5'Flank|EIF1AD_uc021qlv.1_5'Flank|EIF1AD_uc001ogn.2_5'Flank|BANF1_uc001ogp.3_Missense_Mutation_p.P19T	NM_003860	NP_003851	O75531	BAF_HUMAN	Homo sapiens barrier to autointegration factor 1 (BANF1), transcript variant 1, mRNA.	19					initiation of viral infection|interspecies interaction between organisms|provirus integration|response to virus	chromosome|cytosol|nucleoplasm	DNA binding			large_intestine(2)|prostate(1)	3						GGGGGAGAAGCCAGTGGGGAG	0.542000														59			14		4.36969e-10	4.89342e-10	1	1	0
B3GNT9	84752	broad.mit.edu	37	16	67183522	67183522	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67183522G>A	uc021tka.1	-	0	867	c.867C>T	c.(865-867)ggC>ggT	p.G289G	B3GNT9_uc002erf.3_Silent_p.G289G|BC007896_uc002erg.1_5'UTR	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.	289					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						CAAAGCCACCGCCGCCCGCGT	0.672000														36			5		0	0	1	0	0
C11orf94	143678	broad.mit.edu	37	11	45928432	45928432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928432C>T	uc001nbs.4	-	1	200	c.163G>A	c.(163-165)Ggc>Agc	p.G55S		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	55						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TCCACCAGGCCGGAAAGTGGC	0.617000														172			28		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53579602	53579602	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53579602T>C	uc004dsp.3	-	61	9149	c.8747A>G	c.(8746-8748)gAc>gGc	p.D2916G	HUWE1_uc004dsn.3_Missense_Mutation_p.D1740G	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2916					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						TGCTTACCTGTCCTCAGGTGG	0.542000														195			65		0	0	1	0	0
OTOR	56914	broad.mit.edu	37	20	16729634	16729634	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:16729634G>T	uc002wpj.3	+	1	282	c.238G>T	c.(238-240)Gaa>Taa	p.E80*		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	80	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGAGCTGGAGAATTTTGGGC	0.363000														59			16		3.52763e-06	3.73571e-06	1	1	0
PAQR8	85315	broad.mit.edu	37	6	52268422	52268422	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268422G>A	uc003pao.4	+	1	585	c.411G>A	c.(409-411)gaG>gaA	p.E137E	PAQR8_uc021zal.1_Silent_p.E137E	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	137					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCAAGTCAGAGCTCTCCCACT	0.542000														207			50		0	0	1	0	0
GRAMD1A	57655	broad.mit.edu	37	19	35512933	35512933	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35512933T>C	uc010xsf.1	+	15	1847	c.1847T>C	c.(1846-1848)aTc>aCc	p.I616T	GRAMD1A_uc010xse.1_Missense_Mutation_p.I611T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I604T|GRAMD1A_uc002nxl.2_Missense_Mutation_p.I377T|GRAMD1A_uc002nxn.1_Missense_Mutation_p.I226T	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	611						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGGTTCTCATCAGCATTGTG	0.612000														96			20		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377552	61377552	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61377552T>C	uc002ljk.4	+	1	296	c.125T>C	c.(124-126)gTc>gCc	p.V42A	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Missense_Mutation_p.V42A	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	42					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTAAGCATGGTCCTCCTTGGT	0.448000														58			16		0	0	1	0	0
FMR1	2332	broad.mit.edu	37	X	147026464	147026464	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:147026464C>A	uc010nst.3	+	14	1776	c.1547C>A	c.(1546-1548)gCt>gAt	p.A516D	FMR1_uc004fcj.3_Missense_Mutation_p.A493D|FMR1_uc022cgc.1_Splice_Site_p.L426_splice|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Splice_Site_p.A470_splice|FMR1_uc022cge.1_Missense_Mutation_p.A495D|FMR1_uc022cgf.1_Splice_Site_p.L405_splice|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.A356D|FMR1_uc011mxa.2_Missense_Mutation_p.A163D	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	516	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTCATTAGCTCCAACAGAG	0.507000									Fragile X syndrome					36			4		1	1	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140373894	140373894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140373894G>A	uc003vvy.1	+	0	942	c.764G>A	c.(763-765)gGa>gAa	p.G255E	ADCK2_uc003vvz.3_Missense_Mutation_p.G255E	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	255	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					GAGCTCTTTGGATACCTTGGA	0.557000														129			31		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168465674	168465674	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168465674G>A	uc003qwo.4	-	4	590	c.525C>T	c.(523-525)tgC>tgT	p.C175C	FRMD1_uc003qwm.4_5'UTR|FRMD1_uc011egs.2_5'UTR|FRMD1_uc011egt.2_Silent_p.C87C|FRMD1_uc003qwn.4_Silent_p.C107C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	175	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CCCGGTGAGCGCACTGTGACC	0.667000														55			16		0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195013054	195013054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195013054G>A	uc003fun.4	-	18	2134	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	631					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						CCCAGTTCACGTCTGCACCAT	0.413000														156			27		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28463640	28463640	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28463640T>G	uc001zbj.3	-	37	6129	c.6023A>C	c.(6022-6024)aAg>aCg	p.K2008T		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2008					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATACATGTCTTGTCCGTCGT	0.557000														145			26		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118671334	118671334	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118671334G>A	uc021pzk.1	-	13	1824	c.1326C>T	c.(1324-1326)tgC>tgT	p.C442C	KIAA1598_uc009xyw.3_Silent_p.C442C|KIAA1598_uc001lcz.4_Silent_p.C442C|KIAA1598_uc010qso.2_Silent_p.C382C|KIAA1598_uc010qsp.1_Silent_p.C442C|KIAA1598_uc010qsq.1_Silent_p.C382C|KIAA1598_uc001lcy.4_Silent_p.C412C	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	442					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTGCACTTTCGCAGCCTTTCG	0.299000														79			19		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116840415	116840415	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116840415C>T	uc004bie.4	-	0	338	c.75G>A	c.(73-75)ccG>ccA	p.P25P	AMBP_uc011lxk.2_5'Flank|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	25					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	p.P25P(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTTGTCGGGCGGCGTTGGCA	0.617000														233			45		0	0	1	0	0
PDK2	5164	broad.mit.edu	37	17	48172856	48172856	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48172856C>T	uc002iqc.3	+	0	218	c.57C>T	c.(55-57)taC>taT	p.Y19Y	PDK2_uc002iqb.3_Intron|PDK2_uc021tzw.1_Silent_p.Y19Y|PDK2_uc021tzx.1_5'Flank	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	19					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CGCCCAAGTACATAGAGCACT	0.677000									Autosomal Dominant Polycystic Kidney Disease					37			7		0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117594	53117594	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53117594A>C	uc002pzu.4	-	1	1468	c.224T>G	c.(223-225)tTt>tGt	p.F75C	ZNF83_uc002pzv.4_Missense_Mutation_p.F75C|ZNF83_uc010eps.3_Missense_Mutation_p.F75C|ZNF83_uc010ept.3_Missense_Mutation_p.F75C|ZNF83_uc010epu.3_Missense_Mutation_p.F75C|ZNF83_uc010epw.3_Missense_Mutation_p.F75C|ZNF83_uc010epv.3_Missense_Mutation_p.F75C|ZNF83_uc010epx.3_Missense_Mutation_p.F75C|ZNF83_uc010epy.3_Missense_Mutation_p.F75C|ZNF83_uc010epz.3_Missense_Mutation_p.F75C|ZNF83_uc010eqb.2_Missense_Mutation_p.F75C|ZNF83_uc021uyx.1_Missense_Mutation_p.F75C	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	75						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TGAATCCACAAAATTACATTC	0.373000														68			20		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34710699	34710699	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34710699C>T	uc002nvb.4	+	7	1249	c.1053C>T	c.(1051-1053)gcC>gcT	p.A351A	LSM14A_uc002nva.4_Silent_p.A351A|LSM14A_uc010xru.2_Silent_p.A310A|LSM14A_uc002nvc.4_Silent_p.A157A	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	351					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AAGGAAATGCCGATGAAGAAG	0.353000														41			11		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607995	53607995	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53607995G>A	uc001scf.3	-	6	1153	c.661C>T	c.(661-663)Cag>Tag	p.Q221*	RARG_uc001scd.3_Nonsense_Mutation_p.Q210*|RARG_uc010sob.2_Nonsense_Mutation_p.Q199*|RARG_uc001scg.3_Nonsense_Mutation_p.Q149*|RARG_uc010soc.2_Nonsense_Mutation_p.Q100*|RARG_uc001sce.3_Nonsense_Mutation_p.Q221*|RARG_uc010sod.2_Nonsense_Mutation_p.Q258*	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	221	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGATCCAGCTGCACGCGGTGG	0.567000														163			34		0	0	1	0	0
WDR61	80349	broad.mit.edu	37	15	78585111	78585111	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78585111G>T	uc002bdn.3	-	4	242	c.166C>A	c.(166-168)Cta>Ata	p.L56I	WDR61_uc002bdo.3_Missense_Mutation_p.L56I|WDR61_uc010umz.1_Non-coding_Transcript|WDR61_uc010una.1_Missense_Mutation_p.L56I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	Homo sapiens WD repeat domain 61 (WDR61), mRNA.	56							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CTCCACTGTAGGTCCAGCCTC	0.517000														72			8		0.00448238	0.00455828	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144947078	144947078	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144947078G>T	uc003zaa.1	-	0	357	c.344C>A	c.(343-345)gCt>gAt	p.A115D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	115						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCACGCTCAGCGGCCAGCAG	0.687000														113			20		8.34094e-07	8.90579e-07	1	1	0
TRPM3	80036	broad.mit.edu	37	9	73230953	73230953	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:73230953G>T	uc004aid.3	-	16	2605	c.2361C>A	c.(2359-2361)agC>agA	p.S787R	TRPM3_uc004ahu.3_Missense_Mutation_p.S617R|TRPM3_uc004ahv.3_Missense_Mutation_p.S589R|TRPM3_uc004ahw.3_Missense_Mutation_p.S659R|TRPM3_uc004ahx.3_Missense_Mutation_p.S646R|TRPM3_uc004ahy.3_Missense_Mutation_p.S649R|TRPM3_uc004ahz.3_Missense_Mutation_p.S636R|TRPM3_uc004aia.3_Missense_Mutation_p.S634R|TRPM3_uc004aib.3_Missense_Mutation_p.S624R|TRPM3_uc004aic.3_Missense_Mutation_p.S787R	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	812						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGAACTCCAAGCTGAGAATTG	0.398000														54			9		0.00448238	0.00455828	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152647525	152647525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152647525C>T	uc021zhb.1	-	76	15422	c.15199G>A	c.(15199-15201)Ggc>Agc	p.G5067S	SYNE1_uc003qot.4_Missense_Mutation_p.G4996S|SYNE1_uc003qou.4_Missense_Mutation_p.G5067S|SYNE1_uc010kiz.3_Missense_Mutation_p.G822S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5067					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTTCTTTGCCGGTTGGCTTG	0.522000										HNSCC(10;0.0054)				109			26		0	0	1	0	0
GNG7	2788	broad.mit.edu	37	19	2515062	2515062	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2515062C>T	uc002lwd.2	-	4	402	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_052847	NP_443079	O60262	GBG7_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA.	55					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGGGTTCTCCGAGGCAGGGA	0.498000														193			36		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247611772	247611772	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247611772C>A	uc001icr.3	+	10	3215	c.3077C>A	c.(3076-3078)cCt>cAt	p.P1026H	NLRP3_uc001ics.3_Missense_Mutation_p.P969H|NLRP3_uc001icu.3_Missense_Mutation_p.P1026H|NLRP3_uc001icw.3_Missense_Mutation_p.P969H|NLRP3_uc001icv.3_Missense_Mutation_p.P912H|NLRP3_uc010pyw.2_Missense_Mutation_p.P1004H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	1026					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)			GAAGAAAAGCCTGAGCTGACC	0.498000														136			9		2.17888e-05	2.28139e-05	1	1	0
TMEM198	130612	broad.mit.edu	37	2	220412347	220412347	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220412347G>A	uc002vme.3	+	3	871	c.286G>A	c.(286-288)Gcg>Acg	p.A96T	TMEM198_uc002vmf.3_Missense_Mutation_p.A96T	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	96	Leu-rich.					integral to membrane		p.S95S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGGGGCGAGCGCGGGCATCGC	0.652000														490			87		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100349724	100349724	+	Missense_Mutation	SNP	C	T	T	rs147586981		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100349724C>T	uc001dsi.1	+	17	2757	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M	AGL_uc001dsj.1_Missense_Mutation_p.T786M|AGL_uc001dsk.1_Missense_Mutation_p.T786M|AGL_uc001dsl.1_Missense_Mutation_p.T786M|AGL_uc001dsm.1_Missense_Mutation_p.T770M|AGL_uc001dsn.1_Missense_Mutation_p.T769M	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	786					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAGAGAAACACGAAACCTTAT	0.318000														60			5		0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811481	140811481	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:140811481G>T	uc021xsg.1	-	1	1861	c.1109C>A	c.(1108-1110)tCc>tAc	p.S370Y	MAML3_uc011chd.1_Intron	NM_018717	NP_061187	Q96JK9	MAML3_HUMAN	Homo sapiens mastermind-like 3 (Drosophila) (MAML3), mRNA.	370					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					AGATCCCATGGAGACATGTGC	0.582000														166			39		1.90571e-15	2.25613e-15	1	1	0
ZNF263	10127	broad.mit.edu	37	16	3333885	3333885	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3333885G>A	uc002cuq.3	+	0	399	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	ZNF263_uc010uww.2_Intron	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGAGGACTGCGCCTGGAGCCA	0.677000														130			10		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32827617	32827617	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32827617A>G	uc004dda.1	-	6	886	c.642T>C	c.(640-642)gaT>gaC	p.D214D	DMD_uc004dcz.2_Silent_p.D91D|DMD_uc004dcy.1_Silent_p.D210D|DMD_uc004ddb.1_Silent_p.D206D|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Silent_p.D206D|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	214	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AACCTTCAGGATCGAGTAGTT	0.393000														80			24		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47865893	47865893	+	Silent	SNP	C	T	T	rs138426511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47865893C>T	uc010xyn.2	+	5	1885	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	DHX34_uc010elc.1_Silent_p.F427F	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	512	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATGATGCCTTCGCCCCCTACC	0.642000														89			20		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135743506	135743506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135743506G>A	uc002tue.1	-	6	2967	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.A866V|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.A707V|YSK4_uc002tui.4_Missense_Mutation_p.A996V	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	979							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATCAAGAGCTAATAATTC	0.353000														57			22		0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16556570	16556570	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556570T>C	uc001ioj.1	-	1	1665	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	242	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCTGTATTTGTTGTTGTTTCC	0.388000														143			8		0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41223162	41223162	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41223162A>G	uc002icq.3	-	14	5001	c.4769T>C	c.(4768-4770)gTt>gCt	p.V1590A	BRCA1_uc010whp.2_Missense_Mutation_p.V439A|BRCA1_uc010whl.2_Missense_Mutation_p.V486A|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.V1519A|BRCA1_uc002icu.3_Missense_Mutation_p.V486A|BRCA1_uc010cyx.3_Missense_Mutation_p.V1543A|BRCA1_uc002ict.3_Missense_Mutation_p.V1611A|BRCA1_uc010whn.2_Missense_Mutation_p.V81A|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.V319A|BRCA1_uc002idc.1_Missense_Mutation_p.V486A|BRCA1_uc010whr.1_Missense_Mutation_p.V440A	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1590					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|G2/M transition DNA damage checkpoint|androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|double-strand break repair via homologous recombination|fatty acid biosynthetic process|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|positive regulation of cell cycle arrest|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of histone acetylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein K6-linked ubiquitination|protein autoubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	RNA binding|androgen receptor binding|identical protein binding|protein binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TATGTTGCCAACACGAGCTGA	0.488000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)				213			29		0	0	1	0	0
FAM129B	64855	broad.mit.edu	37	9	130270389	130270389	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130270389C>T	uc004brh.3	-	11	1727	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	FAM129B_uc004bri.3_Missense_Mutation_p.A496T|FAM129B_uc004brj.4_Missense_Mutation_p.A509T	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	509							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CAGGTAGGGGCCAGCTTCTTG	0.622000														189			37		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149559064	149559064	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149559064G>T	uc010lpn.3	+	6	3007	c.2815G>T	c.(2815-2817)Gac>Tac	p.D939Y		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	p.A938T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GTTTGACGCAGACCGACCCCC	0.547000														282			46		1.05386e-31	1.32937e-31	1	1	0
CENPF	1063	broad.mit.edu	37	1	214815450	214815450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214815450G>T	uc001hkm.3	+	11	3943	c.3769G>T	c.(3769-3771)Gaa>Taa	p.E1257*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1338					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGTCACAAGAAATTAGTGG	0.413000														91			14		1.3612e-06	1.45125e-06	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72423582	72423582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72423582G>A	uc001osu.3	-	5	968	c.779C>T	c.(778-780)gCc>gTc	p.A260V	ARAP1_uc001osv.3_Missense_Mutation_p.A260V|ARAP1_uc001osr.3_Missense_Mutation_p.A20V|ARAP1_uc001oss.3_Missense_Mutation_p.A15V|ARAP1_uc009yth.3_Missense_Mutation_p.A15V|ARAP1_uc010rre.2_Missense_Mutation_p.A15V	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	260					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGCGCACGGCCCGTGGGAC	0.667000														435			100		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475112	140475112	+	Silent	SNP	G	A	A	rs149000816	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475112G>A	uc003lil.3	+	0	876	c.738G>A	c.(736-738)aaG>aaA	p.K246K	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	246					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTTTGCAAAGCTGCTCTATG	0.552000														91			11		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56044551	56044551	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56044551C>T	uc021wzo.1	-	7	1986	c.1846G>A	c.(1846-1848)Gaa>Aaa	p.E616K	ERC2_uc003dhr.1_Missense_Mutation_p.E616K|ERC2_uc003dht.1_Missense_Mutation_p.E87K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	616						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CGGAAGGATTCTATCTCTTCT	0.403000														126			30		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160128806	160128806	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160128806T>C	uc001fve.4	+	4	1019	c.540T>C	c.(538-540)atT>atC	p.I180I	ATP1A4_uc001fvf.4_Non-coding_Transcript	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	180					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTGGTAATTCGAGGAGGAG	0.473000														93			14		0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78305387	78305387	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78305387A>C	uc002bcy.4	-	8	2048	c.2048T>G	c.(2047-2049)tTc>tGc	p.F683C	TBC1D2B_uc010bla.3_Missense_Mutation_p.F683C|TBC1D2B_uc002bda.3_Missense_Mutation_p.F135C	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	683	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						GTTGTCCTTGAACTTCCTGGT	0.557000														64			13		0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144663295	144663295	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144663295T>C	uc003yyq.2	-	4	1796	c.1567A>G	c.(1567-1569)Aag>Gag	p.K523E	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Missense_Mutation_p.K449E|EEF1D_uc011lki.2_Missense_Mutation_p.K107E|EEF1D_uc003yyv.3_Missense_Mutation_p.K83E|EEF1D_uc003yyu.3_Missense_Mutation_p.K107E|EEF1D_uc011lkk.2_Missense_Mutation_p.K107E|EEF1D_uc003yyt.3_Missense_Mutation_p.K473E|EEF1D_uc003yyr.3_Missense_Mutation_p.K473E|EEF1D_uc003yys.3_Missense_Mutation_p.K107E|EEF1D_uc011lkl.2_Missense_Mutation_p.K88E	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	107					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTCCAGCTTGGAGATGGCC	0.692000														202			10		0	0	1	0	0
ATCAY	85300	broad.mit.edu	37	19	3909544	3909544	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3909544C>T	uc010xhz.2	+	7	1209	c.726C>T	c.(724-726)aaC>aaT	p.N242N	ATCAY_uc002lyy.4_Silent_p.N236N|ATCAY_uc010dts.3_5'UTR			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	236	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TGTACCTGAACGGTGCCACGC	0.607000														67			18		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771254	127771254	+	Nonsense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771254T>A	uc011ebs.2	-	2	715	c.379A>T	c.(379-381)Aaa>Taa	p.K127*	KIAA0408_uc003qbc.3_Nonsense_Mutation_p.K127*|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qbb.3_Nonsense_Mutation_p.K10*	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	127							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTTTTGATTTTTTTGTTGCT	0.418000														141			36		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38139572	38139572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38139572G>A	uc010gnb.3	-	7	2880	c.1466C>T	c.(1465-1467)aCa>aTa	p.T489I	HLCS_uc021wjb.1_Missense_Mutation_p.T489I|HLCS_uc002yvs.3_Missense_Mutation_p.T489I	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	489					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TTCCTGCGGTGTCTGAAACAT	0.542000														150			20		0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689966	10689966	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10689966C>T	uc001arn.3	+	8	1077	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	PEX14_uc009vmv.3_Silent_p.G288G|PEX14_uc010oam.2_Silent_p.G288G|PEX14_uc010oan.2_Silent_p.G309G|PEX14_uc009vmw.3_Silent_p.G288G	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	352					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ACCGCCGGGGCGGGGATGGGC	0.672000														109			35		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40040492	40040492	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40040492C>T	uc002hyg.3	-	18	2271	c.2108G>A	c.(2107-2109)cGc>cAc	p.R703H	ACLY_uc002hyh.3_Missense_Mutation_p.R693H|ACLY_uc002hyi.3_Missense_Mutation_p.R757H|ACLY_uc010wfx.2_Missense_Mutation_p.R747H|ACLY_uc010wfy.2_Missense_Mutation_p.R432H	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	703					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GTCCTGATAGCGTAACACATG	0.438000														69			18		0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46067616	46067616	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46067616A>C	uc001vak.3	+	11	1464	c.1322A>C	c.(1321-1323)aAc>aCc	p.N441T	COG3_uc001vai.3_Missense_Mutation_p.N441T|COG3_uc010tfv.2_Missense_Mutation_p.N278T|COG3_uc010aci.3_Missense_Mutation_p.N217T	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	441					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		CATGTGCAGAACAATGGTAAA	0.353000														75			19		0	0	1	0	0
RAD21	5885	broad.mit.edu	37	8	117864941	117864941	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:117864941T>C	uc003yod.3	-	9	1456	c.1168A>G	c.(1168-1170)Aca>Gca	p.T390A		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	390	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					AGACAGCGTGTAAAGAGCtat	0.308000														57			18		0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141578910	141578910	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141578910G>A	uc010ioj.3	-	11	2250	c.1978C>T	c.(1978-1980)Ctg>Ttg	p.L660L		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	660	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CAGTCGTACAGCTGTGGGACG	0.517000														226			70		0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193076	104193076	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104193076C>T	uc004bbk.2	-	1	176	c.94G>A	c.(94-96)Gct>Act	p.A32T		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	32					NADH oxidation|fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	p.L31M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TCATCTGCAGCCAGGATCCCC	0.428000														77			11		0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48546111	48546111	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48546111C>T	uc010dbr.3	-	0	117	c.64G>A	c.(64-66)Gcc>Acc	p.A22T	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Missense_Mutation_p.A22T|ACSF2_uc010dbt.1_Intron	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	22					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TGGGGGCAGGCGGCCAGCGCC	0.682000														33			13		0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219884315	219884315	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219884315C>T	uc002vjl.1	-	19	3470	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	CCDC108_uc002vjm.3_Missense_Mutation_p.R14H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1129						integral to membrane	structural molecule activity	p.R1129C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGAAGAGGCGCCACAGGTG	0.612000														63			21		0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92508676	92508676	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:92508676A>G	uc001kha.3	-	1	1458	c.1215T>C	c.(1213-1215)aaT>aaC	p.N405N	HTR7_uc001kgz.3_Silent_p.N405N|HTR7_uc001khb.3_Silent_p.N405N	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	405					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TCCGGTTGATATTCCGGTACT	0.498000														292			32		0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31144232	31144232	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31144232C>T	uc001wqm.1	+	13	1227	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	SCFD1_uc001wqn.1_Silent_p.L334L|SCFD1_uc010tpg.1_Silent_p.L342L|SCFD1_uc010tph.1_Silent_p.L216L|SCFD1_uc010amf.1_Silent_p.L216L|SCFD1_uc010tpi.1_Silent_p.L309L|SCFD1_uc010amd.1_Silent_p.L233L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	401					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TTATTGATCTCCATACAAATG	0.299000														64			13		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109547290	109547290	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109547290C>T	uc001dwl.3	-	5	1578	c.1202G>A	c.(1201-1203)gGc>gAc	p.G401D	WDR47_uc001dwi.3_Missense_Mutation_p.G394D|WDR47_uc001dwj.3_Missense_Mutation_p.G393D|WDR47_uc001dwk.2_Missense_Mutation_p.G365D|WDR47_uc010ovf.2_Missense_Mutation_p.G320D	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	393										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGAACTCTGGCCCAAGATTTC	0.423000														186			11		0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92702921	92702921	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92702921C>T	uc001pdk.1	+	0	133	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	10					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCGCCAACTGCTGCGAGGCGG	0.741000														58			19		0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243434319	243434319	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243434319A>C	uc001hzw.3	+	2	429	c.260A>C	c.(259-261)aAg>aCg	p.K87T	SDCCAG8_uc010pyk.2_Intron|SDCCAG8_uc010pyl.2_Intron	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	87					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAAGCAGATAAGGAAAGTGAA	0.383000														68			23		0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6868198	6868198	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6868198C>T	uc002knc.3	+	5	3831	c.620C>T	c.(619-621)cCg>cTg	p.P207L	ARHGAP28_uc002kne.3_Missense_Mutation_p.P100L|ARHGAP28_uc010wzi.2_Missense_Mutation_p.P82L|ARHGAP28_uc002knf.3_Missense_Mutation_p.P91L	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	82					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AATGGATCACCGGAGCCTGGA	0.463000														81			7		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35548113	35548113	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35548113C>T	uc003zww.3	+	1	1850	c.1595C>T	c.(1594-1596)gCc>gTc	p.A532V	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.A532V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	532						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GCAGCCATGGCCGGGCCTGGC	0.657000														97			29		0	0	1	0	0
UBE2U	148581	broad.mit.edu	37	1	64676474	64676474	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64676474G>T	uc001dbn.1	+	3	535	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	97							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						ACAACCCTGAGAAGTGGAATA	0.308000														42			9		0.000978159	0.0010017	1	1	0
PPP1CB	5500	broad.mit.edu	37	2	29004680	29004680	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29004680G>T	uc002rmg.3	+	4	652	c.492G>T	c.(490-492)gtG>gtT	p.V164V	PPP1CB_uc010ymj.2_Silent_p.V136V|PPP1CB_uc010ymk.2_Silent_p.V136V|PPP1CB_uc010yml.2_Silent_p.V136V|PPP1CB_uc002rmh.3_Silent_p.V164V|SPDYA_uc002rmi.3_5'Flank	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	164					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAGCCATTGTGGATGAGAAGA	0.318000														83			10		5.50884e-06	5.8131e-06	1	1	0
TET1	80312	broad.mit.edu	37	10	70406025	70406025	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70406025C>T	uc001jok.4	+	3	4044	c.3539C>T	c.(3538-3540)tCc>tTc	p.S1180F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1180					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GAAAAGTTGTCCTATATGTAT	0.378000														94			24		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052679	44052679	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44052679G>A	uc001jaw.4	-	1	1502	c.849C>T	c.(847-849)gcC>gcT	p.A283A	ZNF239_uc001jax.4_Silent_p.A283A|ZNF239_uc009xmj.3_Silent_p.A283A|ZNF239_uc009xmk.3_Silent_p.A283A|ZNF239_uc021pph.1_Silent_p.A283A	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTATGGACGGCATGATGGA	0.498000														205			45		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2552886	2552886	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2552886C>T	uc002wgf.1	+	4	631	c.616C>T	c.(616-618)Cta>Tta	p.L206L	TMC2_uc002wgg.1_Silent_p.L190L|TMC2_uc010zpw.1_Silent_p.L38L|TMC2_uc010zpx.1_Silent_p.L37L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	206	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCAAGCAACTATATGCCTA	0.498000														80			24		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237406070	237406070	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237406070C>A	uc002vwb.2	-	1	127	c.93G>T	c.(91-93)gaG>gaT	p.E31D	IQCA1_uc002vvz.1_Missense_Mutation_p.E24D|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.E24D	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	24							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCTTCTGAGGCTCTTTATCGA	0.383000														39			6		0.0293803	0.0295844	1	1	0
LTBP2	4053	broad.mit.edu	37	14	74975656	74975656	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74975656C>T	uc001xqa.3	-	23	3791	c.3404_splice	c.e23-1	p.D1135_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1135	Cys-rich.|EGF-like 11; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCATCCACATCTGCAGGGCCA	0.617000														146			41		0	0	1	0	0
FBLN1	2192	broad.mit.edu	37	22	45946495	45946495	+	Splice_Site	SNP	C	T	T	rs151076402	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:45946495C>T	uc010gzz.3	+	15	1958	c.1811_splice	c.e15+1	p.T604_splice	FBLN1_uc003bgg.1_Splice_Site_p.T566_splice|FBLN1_uc003bgh.3_Splice_Site_p.T566_splice|FBLN1_uc003bgi.1_Splice_Site_p.T566_splice|FBLN1_uc003bgj.1_Splice_Site_p.T566_splice	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	566					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCGCAGCCACGTAAGTCCCT	0.612000														177			38		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36895162	36895162	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36895162A>G	uc022abv.1	-	21	2888	c.2178T>C	c.(2176-2178)tgT>tgC	p.C726C	ELMO1_uc003tfi.2_Silent_p.C246C|ELMO1_uc003tfj.2_Silent_p.C246C|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.C630C|ELMO1_uc003tfk.2_Silent_p.C726C|ELMO1_uc010kxg.2_Silent_p.C726C	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	726					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CACTTCAGTTACAGTCATAGA	0.542000														236			13		0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57373534G>T	uc001nkp.1	+	4	928	c.737G>T	c.(736-738)aGc>aTc	p.S246I	SERPING1_uc010rju.1_Missense_Mutation_p.S194I|SERPING1_uc010rjv.1_Missense_Mutation_p.S251I|SERPING1_uc001nkr.1_Missense_Mutation_p.S246I|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	246					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTGTACAGCAGCAGCCCCAGA	0.547000														229			49		2.22293e-35	2.81567e-35	1	1	0
PNN	5411	broad.mit.edu	37	14	39650344	39650344	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:39650344G>A	uc001wuw.4	+	8	1528	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	477	Gln-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		CTcaacctcagcctcagtctc	0.502000														84			20		0	0	1	0	0
KIAA0528	9847	broad.mit.edu	37	12	22602810	22602810	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:22602810T>G	uc010sit.2	-	27	3274	c.3046A>C	c.(3046-3048)Aat>Cat	p.N1016H	KIAA0528_uc010sir.2_Missense_Mutation_p.N819H|KIAA0528_uc010sis.2_Missense_Mutation_p.N1014H|KIAA0528_uc001rfq.3_Missense_Mutation_p.N963H|KIAA0528_uc010siu.2_Missense_Mutation_p.N1014H|KIAA0528_uc001rfr.3_Missense_Mutation_p.N1005H	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	963							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCACTTACATTTATAAGACAC	0.423000														93			29		0	0	1	0	0
CPSF7	79869	broad.mit.edu	37	11	61187476	61187476	+	Silent	SNP	G	A	A	rs138161429	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61187476G>A	uc001nrq.3	-	4	602	c.468C>T	c.(466-468)gaC>gaT	p.D156D	CPSF7_uc001nrp.3_Silent_p.D199D|CPSF7_uc001nrr.3_Silent_p.D156D|CPSF7_uc001nrs.1_Silent_p.D66D	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	156	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCGGCCTCACGTCCACTTTTT	0.532000														177			47		0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28837664	28837664	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28837664T>G	uc002dqy.3	+	4	736	c.569T>G	c.(568-570)gTc>gGc	p.V190G	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.V190G|ATXN2L_uc002dqz.3_Missense_Mutation_p.V190G|ATXN2L_uc002dra.3_Missense_Mutation_p.V190G|ATXN2L_uc002drb.3_Missense_Mutation_p.V190G|ATXN2L_uc002drc.3_Missense_Mutation_p.V190G|ATXN2L_uc010vdb.2_Missense_Mutation_p.V190G|ATXN2L_uc002dre.3_Missense_Mutation_p.V190G|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	190						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCAAGTGATGTCATGCTTGTT	0.507000														145			44		0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135207441	135207441	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135207441T>C	uc003laz.1	+	4	885	c.713T>C	c.(712-714)gTg>gCg	p.V238A	SLC25A48_uc003lba.3_Intron			Q6ZT89	S2548_HUMAN	Homo sapiens solute carrier family 25, member 48 (SLC25A48), nuclear gene encoding mitochondrial protein, mRNA.	237					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGCACCCCTGTGCAGGCCACA	0.637000														63			15		0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158450047	158450047	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158450047T>C	uc010pik.2	+	0	380	c.380T>C	c.(379-381)tTt>tCt	p.F127S	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCCTTGGTTTTGCCATTACC	0.463000														382			132		0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58811415	58811415	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58811415T>G	uc001xdp.3	+	11	1163	c.909T>G	c.(907-909)ccT>ccG	p.P303P	ARID4A_uc001xdo.3_Silent_p.P303P|ARID4A_uc001xdq.3_Silent_p.P303P|ARID4A_uc010apg.1_5'UTR	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	303					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTTACAGCCTGAGGAAGAAC	0.333000														34			5		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860156	30860156	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860156C>A	uc003nrv.3	+	6	978	c.936C>A	c.(934-936)gcC>gcA	p.A312A	DDR1_uc010jse.3_Silent_p.A312A|DDR1_uc003nrq.3_Silent_p.A312A|DDR1_uc003nrr.3_Silent_p.A312A|DDR1_uc003nrs.3_Silent_p.A312A|DDR1_uc003nrt.3_Silent_p.A312A|DDR1_uc011dms.2_Silent_p.A330A|DDR1_uc003nru.3_Silent_p.A312A|DDR1_uc003nry.2_Silent_p.A312A|DDR1_uc003nrx.2_Silent_p.A312A|DDR1_uc003nrw.1_Silent_p.A111A	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	312					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTGCCATGGCCTGGGAGGGGG	0.687000														135			31		3.67414e-24	4.56162e-24	1	1	0
NRD1	4898	broad.mit.edu	37	1	52254946	52254946	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52254946T>G	uc001ctc.4	-	32	3944	c.3622A>C	c.(3622-3624)Aca>Cca	p.T1208P	NRD1_uc009vzb.3_Missense_Mutation_p.T903P|NRD1_uc001cte.3_Missense_Mutation_p.T1076P|NRD1_uc001ctd.4_Missense_Mutation_p.T1140P	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	1139					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	p.T1208T(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTTGAGTGTTGTTGTGAAA	0.398000														106			20		0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47657112	47657112	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47657112C>T	uc010rho.2	-	3	480	c.291G>A	c.(289-291)gaG>gaA	p.E97E	MTCH2_uc010rhp.2_5'UTR	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	97					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CCTTGTCACTCTCCTGGTAAT	0.393000														78			13		0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67686551	67686551	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:67686551C>T	uc001stn.2	+	2	799	c.362C>T	c.(361-363)tCc>tTc	p.S121F		NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	121					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CCTCCAGCTTCCAGTGGTAAG	0.433000														120			17		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269749	1269749	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1269749G>T	uc010nyk.2	+	5	2464	c.2464G>T	c.(2464-2466)Ggg>Tgg	p.G822W		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	822					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	GCGGCAGCCAGGGCTCAACAC	0.642000														37			7		2.0095e-06	2.13635e-06	1	1	0
TRIM52	84851	broad.mit.edu	37	5	180687720	180687720	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180687720G>A	uc003mnp.3	-	0	400	c.95C>T	c.(94-96)tCc>tTc	p.S32F	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	32						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		ACAGCTGATGGACACGGGGTC	0.562000														103			19		0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38273869	38273869	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38273869G>A	uc003auf.3	+	10	1344	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S	EIF3L_uc011ann.2_Silent_p.S374S|EIF3L_uc003aug.3_Silent_p.S314S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	422						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGTTCCTGTCGCCTGTAGTGC	0.507000														123			23		0	0	1	0	0
C14orf129	51527	broad.mit.edu	37	14	96848753	96848753	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96848753C>T	uc001yfj.4	+	2	314	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	C14orf129_uc001yfl.3_Silent_p.L57L|C14orf129_uc021sbk.1_Silent_p.L57L	NM_016472	NP_057556	Q9P0R6	GSKIP_HUMAN	Homo sapiens chromosome 14 open reading frame 129 (C14orf129), mRNA.	57						cytoplasm	protein binding			large_intestine(1)|lung(1)|prostate(2)	4		Melanoma(154;0.226)		Epithelial(152;0.109)|COAD - Colon adenocarcinoma(157;0.205)		CTCGAAAAGCCTGCGGTGTGC	0.433000														121			19		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8595095	8595095	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8595095G>A	uc002mkg.3	-	20	2451	c.2313C>T	c.(2311-2313)taC>taT	p.Y771Y		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	771						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AGCGGCGGTCGTACTTGGTGA	0.652000														324			71		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60696112	60696112	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60696112C>T	uc001nqi.3	+	3	739	c.546C>T	c.(544-546)ggC>ggT	p.G182G	TMEM132A_uc001nqj.3_Silent_p.G182G|TMEM132A_uc001nqk.3_Silent_p.G195G|TMEM132A_uc001nql.1_Silent_p.G195G	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	182						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CATCCCTGGGCGCCTGCGTGG	0.642000														206			18		0	0	1	0	0
LOC155060	155060	broad.mit.edu	37	7	148984734	148984734	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148984734C>A	uc011kup.1	+	1	295	c.103C>A	c.(103-105)Ctg>Atg	p.L35M	AF035281_uc003wfr.4_Non-coding_Transcript|AF035281_uc003wft.4_Non-coding_Transcript|SNORD112_uc022aow.1_5'Flank					Homo sapiens AI894139 pseudogene (LOC155060), non-coding RNA.																		ATCGTGGCTGCTGTTCAGGTG	0.587000														24			7		8.12818e-05	8.44191e-05	1	1	0
ZNF839	55778	broad.mit.edu	37	14	102792469	102792469	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102792469G>A	uc010awk.1	+	1	443	c.436G>A	c.(436-438)Gcc>Acc	p.A146T	ZNF839_uc001ylo.2_Missense_Mutation_p.A30T|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.A30T|ZNF839_uc001ylr.2_Missense_Mutation_p.A30T	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	30						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GCTCCATATCGCCAGCCCTCA	0.582000														79			16		0	0	1	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100739611	100739611	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100739611C>A	uc002bvv.1	-	7	1172	c.1093G>T	c.(1093-1095)Ggt>Tgt	p.G365C	ADAMTS17_uc002bvx.1_Missense_Mutation_p.G122C	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	365	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CTGCACACACCTCCTAAGTAA	0.522000														210			54		2.3318e-11	2.65658e-11	1	1	0
UBQLNL	143630	broad.mit.edu	37	11	5537044	5537044	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5537044C>T	uc001maz.4	-	0	913	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CGGGAAACTTCTGGGTTCTGC	0.468000														203			55		0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129025	248129025	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248129025G>A	uc010pzd.2	+	0	392	c.392G>A	c.(391-393)gGt>gAt	p.G131D	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTTCTCCTTGGTTTTATGTCT	0.443000														373			116		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	708595	708595	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:708595C>A	uc002cii.1	+	22	2891	c.2837C>A	c.(2836-2838)gCc>gAc	p.A946D	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.A473D|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Missense_Mutation_p.A120D|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	946										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTGCTGATTGCCGCCGGCCGG	0.672000														161			48		4.18559e-23	5.1768e-23	1	1	0
KLHL30	377007	broad.mit.edu	37	2	239059487	239059487	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239059487C>T	uc002vxr.2	+	7	1625	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	506										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATGAGAATGGCGCGCTGGTGC	0.662000														24			10		0	0	1	0	0
DENND2D	79961	broad.mit.edu	37	1	111738639	111738639	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111738639C>T	uc001eak.1	-	5	744	c.544G>A	c.(544-546)Gct>Act	p.A182T	DENND2D_uc001eal.1_Missense_Mutation_p.A179T	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	182	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TAGATGACAGCCATGGAGATC	0.567000														113			25		0	0	1	0	0
PPM1G	5496	broad.mit.edu	37	2	27605361	27605361	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27605361A>T	uc002rkl.3	-	7	1520	c.1313T>A	c.(1312-1314)aTt>aAt	p.I438N	ZNF513_uc002rkj.3_5'Flank|ZNF513_uc002rkk.3_5'Flank|PPM1G_uc002rkm.3_Missense_Mutation_p.I219N	NM_177983	NP_817092	O15355	PPM1G_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1G (PPM1G), mRNA.	438					cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCACAGGCAATGACCATGAA	0.478000														217			77		0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21911000	21911000	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:21911000G>T	uc002gza.2	+	1		c.1728G>T								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gagtcgcaaagggccgaccag	0.672000														15			3		0.004672	0.00474578	1	1	0
ANPEP	290	broad.mit.edu	37	15	90346982	90346982	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90346982C>T	uc002bop.4	-	7	1625	c.1333G>A	c.(1333-1335)Gca>Aca	p.A445T		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	445	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCATCCACTGCCATCACGCGG	0.612000														165			22		0	0	1	0	0
BAAT	570	broad.mit.edu	37	9	104130535	104130535	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104130535C>T	uc010mtd.3	-	2	645	c.536G>A	c.(535-537)aGc>aAc	p.S179N	BAAT_uc004bbd.4_Missense_Mutation_p.S179N	NM_001127610	NP_001692	Q14032	BAAT_HUMAN	Homo sapiens bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) (BAAT), transcript variant 2, mRNA.	179					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	N-acyltransferase activity|carboxylesterase activity|glycine N-choloyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	GGCTAGGAGGCTGGCCCGAAA	0.473000														100			23		0	0	1	0	0
CD33	945	broad.mit.edu	37	19	51729117	51729117	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51729117A>C	uc002pwa.2	+	2	517	c.477A>C	c.(475-477)aaA>aaC	p.K159N	CD33_uc010eos.1_Missense_Mutation_p.K159N|CD33_uc010eot.1_Missense_Mutation_p.K32N|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	159	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCCACTCCAAAAACCTGACCT	0.597000														225			66		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57484236	57484236	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57484236G>A	uc002xzw.3	+	6	2764	c.2479G>A	c.(2479-2481)Gtg>Atg	p.V827M	GNAS_uc021wfl.1_3'UTR|GNAS_uc002xzt.3_Missense_Mutation_p.V152M|GNAS_uc010gjq.3_Missense_Mutation_p.V125M|GNAS_uc002xzx.3_Missense_Mutation_p.V125M|GNAS_uc021wfn.1_Missense_Mutation_p.V184M|GNAS_uc021wfo.1_Missense_Mutation_p.V185M|GNAS_uc002yaa.3_Missense_Mutation_p.V169M|GNAS_uc021wfp.1_Missense_Mutation_p.V170M|GNAS_uc002yad.3_Missense_Mutation_p.V75M|GNAS_uc002yae.3_Missense_Mutation_p.V109M	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	184					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CAAGATCGACGTGATCAAGCA	0.512000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				468			22		0	0	1	0	0
NAA40	79829	broad.mit.edu	37	11	63720001	63720001	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63720001G>A	uc009yoz.3	+	4	501	c.374G>A	c.(373-375)cGg>cAg	p.R125Q	NAA40_uc010rmw.2_Missense_Mutation_p.R85Q|NAA40_uc010rmx.2_Missense_Mutation_p.R104Q|NAA40_uc010rmy.2_5'Flank	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	125	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TCTCACTTCCGGTTTGACGTG	0.577000														114			25		0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718468	58718468	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58718468G>A	uc002qrq.1	+	5	1095	c.636G>A	c.(634-636)ctG>ctA	p.L212L	ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Non-coding_Transcript|ZNF274_uc002qrr.1_Silent_p.L180L|ZNF274_uc002qrs.1_Silent_p.L107L|ZNF274_uc010eum.1_5'UTR	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	213	SCAN box.			A -> T (in Ref. 2; AAG24390).	viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TAGGTGCACTGCCTGTGAAGC	0.602000														46			8		0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	178987118	178987118	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178987118G>T	uc003mka.1	+	1	403	c.403G>T	c.(403-405)Ggc>Tgc	p.G135C	RUFY1_uc003mkb.1_Missense_Mutation_p.G27C|RUFY1_uc003mkc.1_Missense_Mutation_p.G27C	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	135					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGAGCCTGGGCCGCAGCCT	0.577000										HNSCC(44;0.11)				55			21		1.96292e-10	2.20843e-10	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101139427	101139427	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101139427A>C	uc011mrl.2	-	6	1322	c.972T>G	c.(970-972)acT>acG	p.T324T	ZMAT1_uc004eim.3_Silent_p.T153T|ZMAT1_uc004ein.3_Silent_p.T153T|ZMAT1_uc011mrm.2_Silent_p.T153T	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	153						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTCTGAAACAAGTCTTTGGAT	0.388000														166			49		0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941324	52941324	+	Missense_Mutation	SNP	G	A	A	rs151189562	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52941324G>A	uc002pzk.3	+	3	717	c.650G>A	c.(649-651)cGt>cAt	p.R217H	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.R204H	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CTTACTAACCGTCAAGTAATC	0.388000														61			18		0	0	1	0	0
MAPK12	6300	broad.mit.edu	37	22	50695062	50695062	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50695062C>T	uc003bkm.1	-	5	621	c.470G>A	c.(469-471)gGc>gAc	p.G157D	MAPK12_uc003bko.2_Missense_Mutation_p.G67D|MAPK12_uc003bkl.1_Missense_Mutation_p.G147D|MAPK12_uc003bkq.2_5'UTR	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	157	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding	p.P156P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGCCAGGTTGCCGGGCTTCAG	0.652000														172			39		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6080706	6080706	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6080706C>T	uc010idb.1	-	7	1748	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R421H|JAKMIP1_uc003giu.4_Missense_Mutation_p.R421H|JAKMIP1_uc011bwc.2_Missense_Mutation_p.R256H|JAKMIP1_uc003giv.4_Missense_Mutation_p.R421H|JAKMIP1_uc010ide.3_Missense_Mutation_p.R421H	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	421	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R421C(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTTTTGGAGCGCAACAGCCG	0.567000														78			17		0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56653485	56653485	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56653485C>T	uc003dhz.3	+	15	2652	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	CCDC66_uc003dhy.3_Silent_p.I491I|CCDC66_uc003dhu.3_Silent_p.I821I|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Silent_p.I223I	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	855										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAAATGAGATCTATTACCTTG	0.378000														94			33		0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18881682	18881682	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18881682C>T	uc002guw.3	-	4	1464	c.1297G>A	c.(1297-1299)Gac>Aac	p.D433N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	433										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						ATGTTGGGGTCGATGATATTG	0.612000														31			5		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126771137	126771137	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126771137C>T	uc003kuh.4	+	16	2422	c.2060C>T	c.(2059-2061)tCt>tTt	p.S687F	MEGF10_uc003kui.4_Missense_Mutation_p.S687F	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	687	EGF-like 12.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.S687S(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATTGACAGATCTTGTCAGTGT	0.413000														46			10		0	0	1	0	0
AMDHD2	51005	broad.mit.edu	37	16	2570854	2570854	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2570854G>A	uc010uwc.2	+	1	265	c.168G>A	c.(166-168)cgG>cgA	p.R56R	AMDHD2_uc002cqp.3_Silent_p.R56R|AMDHD2_uc002cqq.3_Silent_p.R56R|AMDHD2_uc010uwd.2_Intron	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	56					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						ACGAGCGGCGGGACTGCGGGG	0.697000														149			40		0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	A	A	rs61729170	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32754256G>A	uc003amj.3	+	0	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_uc010gwn.3_Silent_p.S37S	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	66							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537000														170			45		0	0	1	0	0
SGK3	23678	broad.mit.edu	37	8	67710851	67710851	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67710851T>G	uc003xwp.3	+	4	802	c.171T>G	c.(169-171)ctT>ctG	p.L57L	SGK3_uc003xwr.3_Silent_p.L57L|SGK3_uc003xwt.3_Silent_p.L57L|SGK3_uc003xwu.3_Silent_p.L57L	NM_001204173	NP_001191102	Q96BR1	SGK3_HUMAN	Homo sapiens C8orf44-SGK3 readthrough (C8orf44-SGK3), mRNA.	57	PX.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTGATAAACTTTATAACACTG	0.303000														167			8		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53540518	53540518	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:53540518T>C	uc001xai.3	-	4	1567	c.1337A>G	c.(1336-1338)cAt>cGt	p.H446R	DDHD1_uc001xaj.3_Missense_Mutation_p.H453R|DDHD1_uc001xah.3_Missense_Mutation_p.H446R|DDHD1_uc001xag.3_Missense_Mutation_p.H28R	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	446					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					ATGTGTTGCATGGTTGGAAAA	0.328000														77			15		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935091	56935091	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935091A>C	uc010ygl.1	+	4	1229	c.1064A>C	c.(1063-1065)aAt>aCt	p.N355T	ZNF583_uc002qnc.2_Missense_Mutation_p.N355T|ZNF583_uc010ygm.1_Missense_Mutation_p.N355T	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	355					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TATGTGTGTAATGTGTGTGGG	0.408000														101			21		0	0	1	0	0
SLC38A4	55089	broad.mit.edu	37	12	47168916	47168916	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47168916C>T	uc001rpi.2	-	13	1614	c.1215G>A	c.(1213-1215)gtG>gtA	p.V405V	SLC38A4_uc001rpj.2_Silent_p.V405V	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	405					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTAATGTATACACTTTGCTGT	0.438000														129			23		0	0	1	0	0
HSP90AA1	3320	broad.mit.edu	37	14	102548126	102548126	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102548126T>C	uc001yku.4	-	10	2312	c.2122A>G	c.(2122-2124)Acc>Gcc	p.T708A	HSP90AA1_uc001ykv.4_Missense_Mutation_p.T830A	NM_005348	NP_005339	P07900	HS90A_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class A member 1 (HSP90AA1), transcript variant 2, mRNA.	708	Required for homodimerization.				G2/M transition of mitotic cell cycle|axon guidance|cellular chaperone-mediated protein complex assembly|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|TPR domain binding|nitric-oxide synthase regulator activity|protein homodimerization activity|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	GCAGCACTGGTATCATCAGCA	0.413000														134			39		0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130206888	130206888	+	Missense_Mutation	SNP	G	T	T	rs148184910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130206888G>T	uc004bqw.4	+	4	1323	c.909G>T	c.(907-909)aaG>aaT	p.K303N	ZNF79_uc011maf.2_Missense_Mutation_p.K279N|ZNF79_uc011mag.2_Missense_Mutation_p.K279N	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CCGGAGAGAAGCCCTACGAAT	0.557000														174			31		1.08312e-15	1.2841e-15	1	1	0
TM9SF2	9375	broad.mit.edu	37	13	100193890	100193890	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100193890A>C	uc001voj.1	+	8	1119	c.986A>C	c.(985-987)gAt>gCt	p.D329A	TM9SF2_uc010afz.1_Missense_Mutation_p.D164A	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	329					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CTGCACAAAGATATTGCTAGA	0.353000														89			29		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149467528	149467528	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149467528C>T	uc003wgd.2	-	3	292	c.151_splice	c.e3+1	p.G51_splice	ZNF467_uc003wgc.3_Splice_Site_p.G51_splice	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTTACCTACCTGAGCACAC	0.612000														71			18		0	0	1	0	0
PRR22	163154	broad.mit.edu	37	19	5784052	5784052	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5784052G>A	uc010xiv.1	-	2	311	c.206C>T	c.(205-207)gCc>gTc	p.A69V	PRR22_uc002mdb.1_Missense_Mutation_p.A67V	NM_001134316	NP_001127788	Q8IZ63	PRR22_HUMAN	Homo sapiens proline rich 22 (PRR22), mRNA.	67								p.P68P(1)		endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						CCCGCATGGGGCCATCTGGAA	0.667000														185			23		0	0	1	0	0
GPR125	166647	broad.mit.edu	37	4	22422568	22422568	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22422568C>A	uc003gqm.1	-	11	2015	c.1750G>T	c.(1750-1752)Gat>Tat	p.D584Y	GPR125_uc010ieo.1_Missense_Mutation_p.D458Y|GPR125_uc003gqn.1_Missense_Mutation_p.D358Y|GPR125_uc003gqo.3_Missense_Mutation_p.D584Y	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	584					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCTGCTTATCCAGGTTTCCC	0.448000														377			14		3.27435e-08	3.57295e-08	1	1	0
NOTCH1	4851	broad.mit.edu	37	9	139395286	139395286	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139395286C>T	uc004chz.3	-	30	5652	c.5652G>A	c.(5650-5652)ccG>ccA	p.P1884P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1884					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F1883F(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGATCATGAGCGGGGTGAAGC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				99			12		0	0	1	0	0
PHKA2	5256	broad.mit.edu	37	X	18911732	18911732	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911732G>T	uc004cyv.4	-	32	4009	c.3579C>A	c.(3577-3579)gcC>gcA	p.A1193A	LOC100132163_uc004cyt.3_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1193					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGATTCCTGTGGCTTGGTCTT	0.537000														211			55		6.3237e-29	7.94693e-29	1	1	0
MCM6	4175	broad.mit.edu	37	2	136602208	136602208	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602208G>T	uc002tuw.3	-	15	2332	c.2256C>A	c.(2254-2256)taC>taA	p.Y752*		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	752					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTTCCTTCAAGTACCAGTTAA	0.368000														128			11		6.40141e-05	6.6609e-05	1	1	0
POLR2E	5434	broad.mit.edu	37	19	1089931	1089931	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1089931G>A	uc002lre.4	-	5	596	c.519C>T	c.(517-519)atC>atT	p.I173I	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	173					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCCGCCTGGATCCTGGGCA	0.662000														71			14		0	0	1	0	0
LEMD3	23592	broad.mit.edu	37	12	65632541	65632541	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:65632541G>A	uc001ssl.2	+	5	1894	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H	LEMD3_uc009zqo.2_Missense_Mutation_p.R622H	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	623					negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTTGGTGTCGTTTTCGACGT	0.353000														73			11		0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880819	12880819	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:12880819G>A	uc002rbv.4	+	2	2367	c.931G>A	c.(931-933)Gat>Aat	p.D311N	TRIB2_uc010yjp.2_Missense_Mutation_p.D175N	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	311					negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTTTTCTACAGATTTTAGCGT	0.527000														103			37		0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77924851	77924851	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77924851G>A	uc021qny.1	+	10	3405	c.3049G>A	c.(3049-3051)Gtc>Atc	p.V1017I	USP35_uc001ozc.3_Missense_Mutation_p.V585I|USP35_uc010rsp.2_Missense_Mutation_p.V449I|USP35_uc001ozd.3_Missense_Mutation_p.V628I|USP35_uc001ozf.3_Missense_Mutation_p.V748I	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	1017					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCACAGACTGGTCTTCTAATG	0.587000														105			21		0	0	1	0	0
MYO1C	4641	broad.mit.edu	37	17	1381256	1381256	+	Missense_Mutation	SNP	C	T	T	rs147805425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1381256C>T	uc002fsp.3	-	12	1631	c.1411G>A	c.(1411-1413)Gtc>Atc	p.V471I	MYO1C_uc002fsn.3_Missense_Mutation_p.V452I|MYO1C_uc002fso.3_Missense_Mutation_p.V436I|MYO1C_uc010vqj.1_Missense_Mutation_p.V436I|MYO1C_uc010vqk.1_Missense_Mutation_p.V447I	NM_001080779	NP_203693	O00159	MYO1C_HUMAN	Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.	471	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AAATACTGGACGGGCTCCCAC	0.592000														210			63		0	0	1	0	0
DDX54	79039	broad.mit.edu	37	12	113599090	113599090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113599090G>A	uc001tuq.4	-	18	2426	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	DDX54_uc001tup.3_Nonsense_Mutation_p.R800*	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	800					RNA processing|estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|estrogen receptor binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCACGGTCTCGCTTCCCACCT	0.572000														118			28		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132475998	132475998	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132475998T>C	uc001ujn.3	+	9	2828	c.2676T>C	c.(2674-2676)tcT>tcC	p.S892S	EP400_uc021rgq.1_Silent_p.S891S|EP400_uc001ujm.3_Silent_p.S892S|EP400_uc001ujk.3_Silent_p.S928S	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	928					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGGAAAGTTCTCTGGTAAGTT	0.488000														191			30		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32953972	32953972	+	Silent	SNP	T	C	C	rs80359736		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32953972T>C	uc001uub.1	+	22	9266	c.9039T>C	c.(9037-9039)acT>acC	p.T3013T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	3013			T -> I (in BC; unknown pathological significance).		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)		ATCTTGCAACTTCAAAATCTA	0.328000			"""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)				39			8		0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41774184	41774184	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41774184G>A	uc003ori.3	-	3	760	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	180					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCCTTCTTGCGCTCCAGGGCC	0.726000														48			11		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35738747	35738747	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35738747G>A	uc010zvu.2	-	22	2917	c.2826C>T	c.(2824-2826)tgC>tgT	p.C942C	C20orf132_uc002xgk.3_Silent_p.C574C	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TTTTCCCCTTGCACTTTTTTT	0.403000														132			38		0	0	1	0	0
ZNF642	339559	broad.mit.edu	37	1	40961175	40961175	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40961175T>G	uc010ojk.2	+	5	1322	c.1028T>G	c.(1027-1029)cTt>cGt	p.L343R	ZNF642_uc001cfo.3_Missense_Mutation_p.L342R|ZNF642_uc009vwb.3_Missense_Mutation_p.L342R	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CGCTCATCACTTAATCAGCAT	0.433000														107			11		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103544316	103544316	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103544316A>C	uc001dum.3	-	2	704	c.386T>G	c.(385-387)gTt>gGt	p.V129G	COL11A1_uc001dul.3_Missense_Mutation_p.V129G|COL11A1_uc001dun.3_Missense_Mutation_p.V129G|COL11A1_uc009weh.3_Missense_Mutation_p.V129G	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	129	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.G128S(1)		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)		CCCAACCTCAACACCAATTTG	0.393000														61			16		0	0	1	0	0
STARD8	9754	broad.mit.edu	37	X	67937991	67937991	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:67937991A>G	uc004dxb.3	+	5	1449	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G	STARD8_uc004dxa.3_Missense_Mutation_p.D332G|STARD8_uc004dxc.4_Missense_Mutation_p.D332G	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	332					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ATGTACCCAGACCTGGGGCCT	0.577000														68			26		0	0	1	0	0
CSNK1D	1453	broad.mit.edu	37	17	80202665	80202665	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80202665G>A	uc002kej.3	-	8	1577	c.1240C>T	c.(1240-1242)Cac>Tac	p.H414Y	CSNK1D_uc002kei.3_3'UTR|CSNK1D_uc010dil.3_Non-coding_Transcript|CSNK1D_uc002keh.3_3'UTR	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	414					DNA repair|G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|circadian regulation of gene expression|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TCTCATCGGTGCACGACAGAC	0.567000											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		106			28		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131923466	131923466	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131923466G>A	uc003qcs.1	-	16	2161	c.1987C>T	c.(1987-1989)Ccg>Tcg	p.P663S	MED23_uc003qcq.3_Missense_Mutation_p.P669S|MED23_uc011eca.1_Missense_Mutation_p.P304S|MED23_uc003qct.1_Missense_Mutation_p.P669S|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	663					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAAACTGCGGTTGTACCTCT	0.418000														91			7		0	0	1	0	0
ZNF187	7741	broad.mit.edu	37	6	28244499	28244499	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28244499C>T	uc011dlc.2	+	4	1333	c.1063C>T	c.(1063-1065)Cga>Tga	p.R355*	ZNF187_uc003nku.4_Nonsense_Mutation_p.R221*|ZNF187_uc003nkw.4_Nonsense_Mutation_p.R202*|ZNF187_uc011dle.2_Nonsense_Mutation_p.R202*|ZNF187_uc011dlf.2_Nonsense_Mutation_p.R147*|ZNF187_uc011dld.2_Nonsense_Mutation_p.R354*|ZNF187_uc011dlg.2_Nonsense_Mutation_p.R202*	NM_001023560	NP_001018854	Q16670	ZN187_HUMAN	Homo sapiens zinc finger protein 187 (ZNF187), transcript variant a, mRNA.	355					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCACCTTAATCGACATCAGAG	0.448000														33			6		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39149958	39149958	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39149958G>A	uc004abi.3	-	9	1733	c.1494C>T	c.(1492-1494)agC>agT	p.S498S	CNTNAP3_uc004abj.3_Silent_p.S498S|CNTNAP3_uc011lqr.2_Intron|CNTNAP3_uc004abk.1_Silent_p.S498S|CNTNAP3_uc011lqs.1_Intron	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	498	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	p.S498I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CAGAGCCAGAGCTGTTGTCCA	0.463000														65			13		0	0	1	0	0
C11orf9	745	broad.mit.edu	37	11	61551832	61551832	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61551832G>T	uc001nsc.1	+	24	3371	c.3275G>T	c.(3274-3276)aGt>aTt	p.S1092I	C11orf9_uc001nse.1_Missense_Mutation_p.S1052I|C11orf9_uc010rll.1_Missense_Mutation_p.S478I|C11orf9_uc021qkh.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	1092					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CTTCCACAGAGTCTCCACACC	0.632000														64			9		1.76689e-08	1.93511e-08	1	1	0
GSPT1	2935	broad.mit.edu	37	16	11990584	11990584	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11990584T>G	uc010bux.3	-	3	764	c.81A>C	c.(79-81)atA>atC	p.I27I	GSPT1_uc002dbu.3_Silent_p.I164I|GSPT1_uc002dbt.3_Silent_p.I165I	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	27					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						CTGCTTCACTTATTTCTTCTT	0.433000														18			4		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503771	27503771	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27503771G>A	uc002dov.2	-	18	3079	c.3039C>T	c.(3037-3039)aaC>aaT	p.N1013N	GTF3C1_uc002dou.3_Silent_p.N1013N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1013						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGCGGGCCAGGTTGTAATGTG	0.522000														189			34		0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20916132	20916132	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20916132C>T	uc001vxf.3	-	7	1149	c.724G>A	c.(724-726)Gta>Ata	p.V242I		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	242					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GTGATCTCTACCAGCATTGCA	0.473000														203			20		0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42546761	42546761	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42546761G>A	uc002osj.1	-	10	1451	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	GRIK5_uc002osi.1_Silent_p.Y44Y|GRIK5_uc010eib.1_Silent_p.Y391Y	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	472						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CGGGCGCCCCGTACAGCCCAT	0.677000														193			42		0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130647687	130647687	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130647687A>G	uc001uii.3	+	0	684	c.200A>G	c.(199-201)cAg>cGg	p.Q67R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	67	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GCAGCCATCCAGTTGCACGAG	0.627000														147			56		0	0	1	0	0
ZNF358	140467	broad.mit.edu	37	19	7584405	7584405	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7584405G>A	uc002mgn.2	+	1	447	c.277G>A	c.(277-279)Gac>Aac	p.D93N	ZNF358_uc021unu.1_Missense_Mutation_p.D93N	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	93					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTCGAGTTTCGACCTCGATCC	0.607000														347			22		0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661223	36661223	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36661223C>A	uc003ape.3	+	6	663	c.389C>A	c.(388-390)gCt>gAt	p.A130D	APOL1_uc011amn.1_5'UTR|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_5'UTR|APOL1_uc003apf.3_Missense_Mutation_p.A114D|APOL1_uc011amp.2_Missense_Mutation_p.A114D|APOL1_uc011amq.2_Missense_Mutation_p.A96D|APOL1_uc010gwx.3_5'UTR	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	114					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CTCCGTAAAGCTCTGGACAAC	0.458000														121			27		9.39395e-14	1.09849e-13	1	1	0
RANBP2	5903	broad.mit.edu	37	2	109383227	109383227	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109383227G>T	uc002tem.4	+	19	6358	c.6232G>T	c.(6232-6234)Gaa>Taa	p.E2078*		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2078	RanBD1 2.				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						GATGCGAAGAGAACAAGTACT	0.423000														418			155		7.32068e-81	9.35831e-81	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092439	151092439	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151092439C>T	uc022cgv.1	+	0	303	c.303C>T	c.(301-303)gaC>gaT	p.D101D	MAGEA4_uc004fez.3_Silent_p.D101D|MAGEA4_uc004ffa.3_Silent_p.D101D|MAGEA4_uc004ffb.3_Silent_p.D101D|MAGEA4_uc022cgu.1_Silent_p.D129D|MAGEA4_uc004ffc.3_Silent_p.D101D|MAGEA4_uc004ffd.3_Silent_p.D101D	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	101							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCCTGACGCAGAGTCCT	0.557000														137			38		0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108363438	108363438	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108363438G>A	uc003dxd.3	+	13	1991	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	DZIP3_uc003dxf.1_Silent_p.E523E|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Silent_p.E523E|DZIP3_uc003dxg.1_Silent_p.E246E	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	523					protein polyubiquitination	cytoplasm	RNA binding|polyubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.T522S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTCTCACTGAGTCACAGTTCA	0.408000														141			7		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50310575	50310575	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50310575G>A	uc002xwg.1	-	6	614	c.614C>T	c.(613-615)gCc>gTc	p.A205V	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	205					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTGCGTGCAGGCCACGGGAAG	0.627000														178			34		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6214959	6214959	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6214959C>T	uc001amb.2	-	5	618	c.507_splice	c.e5-1	p.R169_splice		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	169					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AATGAGTGGCCTGTAGGGGGA	0.617000														101			17		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94052429	94052429	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94052429C>T	uc003ung.1	+	40	3036	c.2565_splice	c.e40+1	p.A855_splice	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	855			Missing (in OI2A).		Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCTGGTACTGCTGTAAGTGAT	0.473000										HNSCC(75;0.22)				140			32		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7008409	7008409	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7008409C>T	uc011bwg.2	+	8	1481	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	TBC1D14_uc003gjs.4_Silent_p.L468L|TBC1D14_uc010idh.3_Silent_p.L188L|TBC1D14_uc011bwh.2_Silent_p.L81L|TBC1D14_uc003gju.4_5'UTR	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	468	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCTTATTAAACTGGACATTTC	0.388000														68			12		0	0	1	0	0
RABL2A	11159	broad.mit.edu	37	2	114398497	114398497	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114398497C>A	uc002tks.4	+	6	465	c.324C>A	c.(322-324)acC>acA	p.T108T	RABL2A_uc002tkn.4_Silent_p.T108T|RABL2A_uc010flb.3_Silent_p.T108T|RABL2A_uc002tkm.4_Intron|RABL2A_uc002tkr.3_Silent_p.T108T|RABL2A_uc002tkp.4_Silent_p.T108T	NM_013412	NP_038198	Q9UBK7	RBL2A_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 2A (RABL2A), transcript variant 1, mRNA.	108					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						GGAAAGTCACCTATAGGAACC	0.502000														134			25		2.24059e-21	2.74853e-21	1	1	0
NHSL2	340527	broad.mit.edu	37	X	71360063	71360063	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:71360063C>T	uc011mqa.2	+	5	2665	c.2665C>T	c.(2665-2667)Cca>Tca	p.P889S	NHSL2_uc004eak.1_Missense_Mutation_p.P523S|NHSL2_uc010nli.2_Missense_Mutation_p.P658S	NM_001013627	NP_001013649	F5H593	F5H593_HUMAN	Homo sapiens NHS-like 2 (NHSL2), mRNA.	889										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCACAAGCCACCATCTGTTCC	0.547000														80			9		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714511	138714511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714511C>T	uc004cgr.4	-	10	1996	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	CAMSAP1_uc004cgq.4_Missense_Mutation_p.E556K|CAMSAP1_uc010nbg.3_Missense_Mutation_p.E388K	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	666						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGTCCTGTCTCGGTGGGGTCG	0.582000														70			16		0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474750	108474750	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108474750T>C	uc003dxh.2	-	2	309	c.211A>G	c.(211-213)Atg>Gtg	p.M71V		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	71					cell proliferation	extracellular region	hormone activity	p.M71I(1)		endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGACAGCCATCCCTGCATGA	0.547000														132			6		0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738170	130738170	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:130738170A>G	uc002tpx.1	+	0	936	c.482A>G	c.(481-483)tAc>tGc	p.Y161C	LOC100131320_uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA.	161					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AAAGCTGGATACAATGTAAAG	0.468000														134			16		0	0	1	0	0
UNC13D	201294	broad.mit.edu	37	17	73831747	73831747	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73831747G>A	uc002jpp.3	-	18	2088	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	UNC13D_uc010wsk.1_Missense_Mutation_p.R570C|UNC13D_uc002jpq.1_Missense_Mutation_p.R220C	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	570	MHD1.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GAGCTCATGCGCAGCTGGCAG	0.647000									Familial Hemophagocytic Lymphohistiocytosis					96			11		0	0	1	0	0
SMOX	54498	broad.mit.edu	37	20	4168011	4168011	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4168011G>A	uc002wkp.2	+	7	1916	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SMOX_uc010zqo.1_Missense_Mutation_p.R466H|SMOX_uc002wkk.1_Missense_Mutation_p.R519H|SMOX_uc002wkl.1_Missense_Mutation_p.R489H|SMOX_uc002wkm.1_Missense_Mutation_p.R542H|SMOX_uc002wkn.1_Missense_Mutation_p.R177H|SMOX_uc002wko.1_Missense_Mutation_p.R542H	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	542					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GAGGCTGCCCGCCTCATTGAG	0.632000														148			32		0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977542	178977542	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178977542G>A	uc002ulv.3	+	0	361	c.269G>A	c.(268-270)tGc>tAc	p.C90Y		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	90	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CATGGCCAGTGCCTCGGCCCC	0.657000														173			8		0	0	1	0	0
PNRC1	10957	broad.mit.edu	37	6	89790706	89790706	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:89790706C>T	uc003pmv.3	+	0	278	c.93C>T	c.(91-93)gcC>gcT	p.A31A	PNRC1_uc021zcp.1_Silent_p.A31A|PNRC1_uc003pmx.3_5'Flank	NM_006813	NP_006804	Q12796	PNRC1_HUMAN	Homo sapiens proline-rich nuclear receptor coactivator 1 (PNRC1), mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		ACTTTGGGGCCCTCCCGATGG	0.677000										Multiple Myeloma(7;0.094)				149			37		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992704	176992704	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992704C>T	uc001glc.3	-	6	1486	c.1274G>A	c.(1273-1275)aGc>aAc	p.S425N	ASTN1_uc001glb.1_Missense_Mutation_p.S425N|ASTN1_uc001gld.1_Missense_Mutation_p.S425N|ASTN1_uc009wwx.1_Missense_Mutation_p.S425N|ASTN1_uc001gle.4_Intron	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	425					cell migration|neuron cell-cell adhesion	integral to membrane		p.G424V(1)|p.G424G(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GATGAAGCGGCTCCCTGCAGG	0.557000														51			5		0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70969475	70969475	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70969475A>C	uc002asr.3	-	11	1108	c.1004T>G	c.(1003-1005)gTt>gGt	p.V335G	UACA_uc010uke.2_Missense_Mutation_p.V226G|UACA_uc002asq.3_Missense_Mutation_p.V322G|UACA_uc010bin.1_Intron	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	335						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AGCAACCATAACTTCCTAAAT	0.274000														70			19		0	0	1	0	0
CPT2	1376	broad.mit.edu	37	1	53676305	53676305	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53676305C>T	uc001cvb.4	+	3	1474	c.959C>T	c.(958-960)tCg>tTg	p.S320L		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	320					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AAAGTGGACTCGGCAGTGTTC	0.537000														123			14		0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52799988	52799988	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52799988G>A	uc001sai.1	-	0	189	c.74C>T	c.(73-75)cCc>cTc	p.P25L		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	25	Head.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GACCATCCGGGGCATGACAGC	0.632000														62			13		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235952092	235952092	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235952092C>T	uc001hxj.2	-	12	4772	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1533					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CATCCTTCTTCTATGAGTCTT	0.393000														48			21		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29429679	29429679	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29429679A>G	uc002kxc.4	-	24	3949	c.3585T>C	c.(3583-3585)tgT>tgC	p.C1195C	TRAPPC8_uc002kxb.4_Silent_p.C1141C|TRAPPC8_uc002kxd.4_Non-coding_Transcript	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	1195					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAAGTCTGCACATGGGCTTG	0.323000														49			9		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6483904	6483904	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:6483904G>A	uc001iji.1	-	14	1970	c.1886C>T	c.(1885-1887)cCc>cTc	p.P629L	PRKCQ_uc001ijj.2_Missense_Mutation_p.P596L|PRKCQ_uc009xim.2_Intron|PRKCQ_uc009xin.2_Missense_Mutation_p.P560L|PRKCQ_uc010qax.2_Missense_Mutation_p.P471L	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	596	Protein kinase.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGGGTAAAAGGGATTGTCCAT	0.522000														97			27		0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033451	103033451	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103033451G>T	uc003vbz.3	-	9	1296	c.1034C>A	c.(1033-1035)gCc>gAc	p.A345D	SLC26A5_uc003vbt.2_Missense_Mutation_p.A345D|SLC26A5_uc003vbu.2_Missense_Mutation_p.A345D|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Intron|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.A345D	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	345					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A345V(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GATGGCTATGGCAATGGCATC	0.478000														153			31		1.39806e-14	1.64448e-14	1	1	0
CTNNA1	1495	broad.mit.edu	37	5	138163244	138163244	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138163244G>A	uc003ldh.3	+	6	994	c.899G>A	c.(898-900)cGc>cAc	p.R300H	CTNNA1_uc011cyx.2_Missense_Mutation_p.R197H|CTNNA1_uc011cyy.2_Missense_Mutation_p.R177H|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Missense_Mutation_p.R300H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	300					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCGAGGAGCGCTTTAGGCCT	0.507000														92			29		0	0	1	0	0
EVC	2121	broad.mit.edu	37	4	5803763	5803763	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5803763C>T	uc003gil.1	+	15	2575	c.2391C>T	c.(2389-2391)atC>atT	p.I797I	EVC_uc003gim.1_Non-coding_Transcript	NM_153717	NP_714928	P57679	EVC_HUMAN	Homo sapiens Ellis van Creveld syndrome (EVC), mRNA.	797					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCAGCAAATCGGAAGGATCA	0.602000														75			15		0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46712143	46712143	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46712143G>T	uc011aqy.2	+	6	1478	c.1266G>T	c.(1264-1266)caG>caT	p.Q422H	GTSE1_uc011aqz.2_Missense_Mutation_p.Q269H|GTSE1_uc003bhl.1_Missense_Mutation_p.Q47H|GTSE1_uc003bhm.1_Missense_Mutation_p.Q47H	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	403					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCCAACCCCAGACTCCGGAAG	0.597000														199			37		6.02846e-25	7.50304e-25	1	1	0
CNTLN	54875	broad.mit.edu	37	9	17298326	17298326	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17298326A>G	uc003zmz.2	+	6	1148	c.1122A>G	c.(1120-1122)acA>acG	p.T374T	CNTLN_uc003zmx.4_Silent_p.T374T|CNTLN_uc003zmy.3_Silent_p.T374T|CNTLN_uc010mio.3_Silent_p.T53T	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	374						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATGTTCACACAGCTGAAAGTA	0.333000														54			8		0	0	1	0	0
MAD2L1	4085	broad.mit.edu	37	4	120981442	120981442	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120981442G>A	uc003idl.2	-	4	573	c.449C>T	c.(448-450)tCa>tTa	p.S150L	MAD2L1_uc003idm.2_3'UTR	NM_002358	NP_002349	Q13257	MD2L1_HUMAN	Homo sapiens MAD2 mitotic arrest deficient-like 1 (yeast) (MAD2L1), mRNA.	150	HORMA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity			breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						CAGATCAAATGAACCTAAATT	0.363000														40			7		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15383882	15383882	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15383882C>A	uc002nar.3	-	1	251	c.29G>T	c.(28-30)aGa>aTa	p.R10I	BRD4_uc002nas.3_Missense_Mutation_p.R10I|BRD4_uc002nat.3_Missense_Mutation_p.R10I|BRD4_uc002nau.4_Missense_Mutation_p.R10I	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	10					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ATTTCTCAATCTCGTCCCAGG	0.552000			T	C15orf55	lethal midline carcinoma of young people									269			28		6.04164e-23	7.46519e-23	1	1	0
KRT4	3851	broad.mit.edu	37	12	53207653	53207653	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53207653T>A	uc001saz.3	-	0	412	c.412A>T	c.(412-414)Agt>Tgt	p.S138C		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	64						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCAGCCACACTCATGGAGATG	0.582000														431			105		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327349	152327349	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152327349G>A	uc001ezw.4	-	2	2986	c.2913C>T	c.(2911-2913)tcC>tcT	p.S971S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	971	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAAGCCAGAGGACTGACCTG	0.488000														667			130		0	0	1	0	0
CHN2	1124	broad.mit.edu	37	7	29552224	29552224	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29552224T>G	uc003szz.3	+	12	1717	c.1280T>G	c.(1279-1281)cTg>cGg	p.L427R	CHN2_uc011jzs.2_Missense_Mutation_p.L502R|CHN2_uc010kva.3_3'UTR|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Missense_Mutation_p.L392R|CHN2_uc011jzt.2_Missense_Mutation_p.L440R|CHN2_uc010kvd.3_Missense_Mutation_p.L283R|CHN2_uc011jzu.2_Missense_Mutation_p.L412R|CHN2_uc010kvh.3_Missense_Mutation_p.L187R|CHN2_uc010kvi.3_Missense_Mutation_p.L219R|CHN2_uc010kve.3_3'UTR|CHN2_uc003taa.3_Missense_Mutation_p.L291R|CHN2_uc010kvf.3_Missense_Mutation_p.L233R|CHN2_uc010kvg.3_Missense_Mutation_p.L245R|CHN2_uc010kvj.3_Missense_Mutation_p.L200R|CHN2_uc010kvk.3_Missense_Mutation_p.L102R|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.L246R|CHN2_uc011jzv.2_Missense_Mutation_p.L220R	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	427	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GCAGAAAATCTGGGGATCGTG	0.428000														86			25		0	0	1	0	0
PATZ1	23598	broad.mit.edu	37	22	31731752	31731752	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31731752C>T	uc003akq.3	-	2	2094	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q	PATZ1_uc003akp.3_Missense_Mutation_p.R478Q|PATZ1_uc003akr.3_Missense_Mutation_p.R478Q	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	478					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S477L(1)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						GTATGCTGCCCGCAAGTACTT	0.567000														125			29		0	0	1	0	0
CCDC27	148870	broad.mit.edu	37	1	3683818	3683818	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3683818A>G	uc001akv.2	+	9	1633	c.1552A>G	c.(1552-1554)Aag>Gag	p.K518E		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	518										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACTGGAGAGAAAGCTCACCAA	0.562000														65			8		0	0	1	0	0
NPFF	8620	broad.mit.edu	37	12	53901208	53901208	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53901208G>A	uc001sdw.1	-	0	215	c.51C>T	c.(49-51)gaC>gaT	p.D17D		NM_003717	NP_003708	O15130	NPFF_HUMAN	Homo sapiens neuropeptide FF-amide peptide precursor (NPFF), mRNA.	17					neuropeptide signaling pathway|synaptic transmission	extracellular region|soluble fraction	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						CACAGCCCCCGTCTATTAACA	0.582000														124			34		0	0	1	0	0
UMPS	7372	broad.mit.edu	37	3	124454055	124454055	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124454055T>C	uc003ehl.4	+	1	378	c.272T>C	c.(271-273)aTt>aCt	p.I91T	UMPS_uc011bkb.2_5'UTR|UMPS_uc003ehn.4_Intron|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_Missense_Mutation_p.F29L|UMPS_uc011bkc.2_Intron|UMPS_uc011bkd.2_Intron	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	91	OPRTase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ACCAATCAAATTCCAATGCTT	0.348000														41			8		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36901286	36901286	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36901286A>C	uc022abv.1	-	20	2671	c.1961T>G	c.(1960-1962)tTc>tGc	p.F654C	ELMO1_uc003tfi.2_Missense_Mutation_p.F174C|ELMO1_uc003tfj.2_Missense_Mutation_p.F174C|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Missense_Mutation_p.F558C|ELMO1_uc003tfk.2_Missense_Mutation_p.F654C|ELMO1_uc010kxg.2_Missense_Mutation_p.F654C	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	654	PH.				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						AGGAGCGATGAAGTTCAGTTG	0.388000														198			55		0	0	1	0	0
PCDP1	200373	broad.mit.edu	37	2	120397378	120397378	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:120397378C>T	uc002tmb.3	+	21	2409	c.1297C>T	c.(1297-1299)Cac>Tac	p.H433Y		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	719						cilium	calmodulin binding					Colorectal(110;0.196)					CGGAATAATGCACTGGAAAAG	0.468000														79			25		0	0	1	0	0
ELMOD2	255520	broad.mit.edu	37	4	141464612	141464612	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141464612C>T	uc003iik.3	+	7	740	c.608C>T	c.(607-609)tCt>tTt	p.S203F		NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.	203	ELMO.				phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CATAGGTATTCTTATGCAATA	0.328000														123			13		0	0	1	0	0
SEMA7A	8482	broad.mit.edu	37	15	74708920	74708920	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74708920C>T	uc002axv.3	-	6	837	c.797G>A	c.(796-798)tGc>tAc	p.C266Y	SEMA7A_uc010ulk.2_Missense_Mutation_p.C101Y|SEMA7A_uc010ull.2_Missense_Mutation_p.C252Y	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	266	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GCTCACCCTGCACAACTGGGC	0.542000														84			18		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108778706	108778706	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108778706C>A	uc003dxl.3	-	11	1065	c.978G>T	c.(976-978)caG>caT	p.Q326H	MORC1_uc011bhn.2_Missense_Mutation_p.Q326H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	326					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CCAAAGCTCTCTGTAATACAT	0.353000														58			5		0.0293803	0.0295844	1	1	0
CSPP1	79848	broad.mit.edu	37	8	68030998	68030998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68030998G>A	uc003xxi.3	+	14	1760	c.1729G>A	c.(1729-1731)Gta>Ata	p.V577I	CSPP1_uc003xxg.1_Missense_Mutation_p.V569I|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.V542I|CSPP1_uc003xxk.3_Missense_Mutation_p.V248I	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308000														48			9		0	0	1	0	0
AGPAT6	137964	broad.mit.edu	37	8	41467268	41467268	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41467268C>T	uc003xnz.2	+	3	1269	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	110					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			CTCCAGAGTTCGAGCTCTCTG	0.448000														149			41		0	0	1	0	0
PRDM5	11107	broad.mit.edu	37	4	121774643	121774643	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121774643C>T	uc003idn.3	-	2	480	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	PRDM5_uc003ido.3_Missense_Mutation_p.R77Q|PRDM5_uc010ine.3_Missense_Mutation_p.R77Q|PRDM5_uc010inf.3_Missense_Mutation_p.R77Q|PRDM5_uc003idp.1_Missense_Mutation_p.R77Q	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	77	SET.				histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTGGAGTGCCGTGGGTTGGT	0.443000														442			100		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90576760	90576760	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90576760G>T	uc003pnr.3	+	7	3947	c.3751G>T	c.(3751-3753)Gag>Tag	p.E1251*	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Nonsense_Mutation_p.E1251*|CASP8AP2_uc011dzz.2_Nonsense_Mutation_p.E1251*	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1251					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCAATCCGAAGAGCGCTCCTT	0.378000														66			12		0.00010058	0.000104357	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147108773	147108773	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147108773A>G	uc011bno.2	-	3	1285	c.1099T>C	c.(1099-1101)Tcc>Ccc	p.S367P	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.S247P|ZIC4_uc021xff.1_Missense_Mutation_p.S355P|ZIC4_uc003ewd.2_Missense_Mutation_p.S317P|ZIC4_uc021xfg.1_Missense_Mutation_p.S111P	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	317						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCCACCTGGGACTTGTGGCCG	0.711000														115			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474270	179474270	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179474270C>A	uc021vsy.1	-	221	44288	c.44063G>T	c.(44062-44064)aGc>aTc	p.S14688I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S8383I|TTN_uc021vta.1_Missense_Mutation_p.S8316I|TTN_uc021vtb.1_Missense_Mutation_p.S8191I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15615	Ig-like 96.						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)			CACTTCTAGGCTTGTTCTCAG	0.323000														155			29		2.08457e-15	2.46654e-15	1	1	0
DLEC1	9940	broad.mit.edu	37	3	38158136	38158136	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38158136A>C	uc003chp.1	+	27	4070	c.4049A>C	c.(4048-4050)gAa>gCa	p.E1350A	DLEC1_uc003cho.1_Missense_Mutation_p.E1350A|DLEC1_uc010hgv.1_Missense_Mutation_p.E1353A|DLEC1_uc003chr.1_Missense_Mutation_p.E421A|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.	1350					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTCAGCCATGAAACTGACTCA	0.627000														150			56		0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9559502	9559502	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9559502C>T	uc002koe.1	-	13	2061	c.1943G>A	c.(1942-1944)aGc>aAc	p.S648N	PPP4R1_uc002kof.2_Missense_Mutation_p.S65N|PPP4R1_uc010wzo.1_Missense_Mutation_p.S494N|PPP4R1_uc002kod.1_Missense_Mutation_p.S631N|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	648					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						ACCAGGGAGGCTATATGCACA	0.488000														216			42		0	0	1	0	0
PTP4A1	7803	broad.mit.edu	37	6	64289169	64289169	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64289169G>T	uc003pek.3	+	6	1323	c.337G>T	c.(337-339)Gta>Tta	p.V113L	PTP4A1_uc003pel.3_Missense_Mutation_p.V113L|PTP4A1_uc021zbm.1_Non-coding_Transcript	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	113	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			CAGAGCTCCAGTACTTGTTGC	0.328000														76			14		1.49906e-05	1.573e-05	1	1	0
MRGPRX3	117195	broad.mit.edu	37	11	18159146	18159146	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18159146C>T	uc021qek.1	+	0	397	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C	MRGPRX3_uc001mnu.3_Missense_Mutation_p.R133C	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	133						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GTACCACTGCCGCCGCCCCAG	0.572000														291			57		0	0	1	0	0
ZBTB5	9925	broad.mit.edu	37	9	37441319	37441319	+	Silent	SNP	C	T	T	rs138751675	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37441319C>T	uc022bgv.1	-	0	1230	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	ZBTB5_uc003zzx.3_Silent_p.S410S	NM_014872	NP_055687	O15062	ZBTB5_HUMAN	Homo sapiens zinc finger and BTB domain containing 5 (ZBTB5), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TAAGAAAATTCGAAATACTAA	0.393000														112			26		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91498777	91498777	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91498777G>T	uc001kgs.1	+	20	3911	c.3839G>T	c.(3838-3840)aGg>aTg	p.R1280M	KIF20B_uc001kgr.1_Missense_Mutation_p.R1240M|KIF20B_uc001kgt.1_Missense_Mutation_p.R491M|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1280					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATCTTCAGAGGAAGGAAGAA	0.383000														55			10		2.17888e-05	2.28139e-05	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62296060	62296060	+	Silent	SNP	C	T	T	rs601430		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62296060C>T	uc001ntl.3	-	4	6129	c.5829G>A	c.(5827-5829)tcG>tcA	p.S1943S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1943					nervous system development	nucleus	protein binding	p.S1943S(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATTTTGGCACCGACACATCCA	0.512000														457			119		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43020447	43020447	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43020447C>T	uc003otq.3	-	1	412	c.80G>A	c.(79-81)cGc>cAc	p.R27H	CUL7_uc011dvb.2_Missense_Mutation_p.R79H|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	27					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACGCGCTGGCGGATCAGCTC	0.637000														153			40		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33145207	33145207	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33145207C>A	uc003ocx.1	-	22	2181	c.1953G>T	c.(1951-1953)caG>caT	p.Q651H	COL11A2_uc010jul.1_Missense_Mutation_p.R31M|COL11A2_uc003ocy.1_Missense_Mutation_p.Q565H|COL11A2_uc003ocz.1_Missense_Mutation_p.Q544H	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	651	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CAGGGGTGCCCTGTTGTCCAG	0.567000														75			15		6.72482e-11	7.60803e-11	1	1	0
PARP14	54625	broad.mit.edu	37	3	122411328	122411328	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122411328A>C	uc003efq.4	+	3	595	c.536A>C	c.(535-537)gAc>gCc	p.D179A	PARP14_uc021xdc.1_Missense_Mutation_p.D43A|PARP14_uc010hrk.3_5'Flank	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TCTAATGATGACTTTCAAGTG	0.373000														47			13		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4847718	4847718	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847718C>T	uc002mbj.2	-	5	996	c.819G>A	c.(817-819)tcG>tcA	p.S273S	PLIN3_uc002mbk.2_Silent_p.S261S|PLIN3_uc002mbl.3_Silent_p.S273S	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	273					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	TTAGGACCTGCGACAGCTGCA	0.657000														31			6		0	0	1	0	0
USP32	84669	broad.mit.edu	37	17	58259106	58259106	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:58259106G>T	uc002iyo.1	-	31	4413	c.4127C>A	c.(4126-4128)tCt>tAt	p.S1376Y	USP32_uc002iyn.1_Missense_Mutation_p.S1046Y	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1376					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGAAGAAGGAGAACCTGTGAA	0.483000														67			11		7.03913e-09	7.75971e-09	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247654784	247654784	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247654784T>C	uc001icz.2	+	0	415	c.355T>C	c.(355-357)Tcc>Ccc	p.S119P		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GGTTGTCATGTCCCATGACCG	0.612000														148			76		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559320	7559320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559320C>T	uc010sge.2	-	4	951	c.925G>A	c.(925-927)Gta>Ata	p.V309I	CD163L1_uc001qsy.3_Missense_Mutation_p.V299I	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	299	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGCTTGCATACGACATCAGCT	0.522000														146			21		0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14179501	14179501	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:14179501G>A	uc010xag.2	+	0	406	c.108G>A	c.(106-108)aaG>aaA	p.K36K	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						AACTGCAGAAGATCCACAAGG	0.637000														55			10		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735119	54735119	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54735119G>T	uc003pck.3	+	1	191	c.75G>T	c.(73-75)aaG>aaT	p.K25N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	25								p.K25N(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCACTACAAGGAATGGTATC	0.423000														142			49		1.86633e-21	2.29124e-21	1	1	0
ZHX3	23051	broad.mit.edu	37	20	39833400	39833400	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39833400C>A	uc010ggg.1	-	0	307	c.157G>T	c.(157-159)Gca>Tca	p.A53S	ZHX3_uc002xjr.1_Missense_Mutation_p.A53S|ZHX3_uc002xjs.1_Missense_Mutation_p.A53S|ZHX3_uc002xjt.1_Missense_Mutation_p.A53S|ZHX3_uc002xju.1_Missense_Mutation_p.A53S|ZHX3_uc002xjv.1_Missense_Mutation_p.A53S|ZHX3_uc002xjw.1_Missense_Mutation_p.A53S	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	Homo sapiens zinc fingers and homeoboxes 3 (ZHX3), mRNA.	53	Required for nuclear localization.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGTTCTGTGCTGCCTCACTG	0.547000														188			42		5.20837e-25	6.48422e-25	1	1	0
DEPDC5	9681	broad.mit.edu	37	22	32215144	32215144	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32215144C>T	uc011alu.2	+	21	2005	c.1803C>T	c.(1801-1803)ttC>ttT	p.F601F	DEPDC5_uc011als.2_Silent_p.F601F|DEPDC5_uc003als.3_Silent_p.F601F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F601F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.F41F|DEPDC5_uc011alt.2_Silent_p.F573F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	601					intracellular signal transduction			p.F601F(5)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTAACCCCTTCGCTCCCTCTC	0.542000														170			37		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43372352	43372352	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43372352G>A	uc002ovd.1	-	4	1282	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Missense_Mutation_p.R289C|PSG3_uc002ova.2_Missense_Mutation_p.R289C|PSG3_uc002ouz.2_Missense_Mutation_p.R382C|PSG3_uc002ovb.3_Missense_Mutation_p.R382C	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	382	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTAATATGGCGGATAAAGAGC	0.463000														348			79		0	0	1	0	0
FAM70A	55026	broad.mit.edu	37	X	119438305	119438305	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119438305C>T	uc004eso.4	-	1	327	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	FAM70A_uc004esp.4_Missense_Mutation_p.V34M|FAM70A_uc010nqo.3_Missense_Mutation_p.V34M	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	34						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						AGCAAAGTCACGGTGACATAG	0.448000														147			44		0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056812	180056812	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180056812G>T	uc003mlz.4	-	5	779	c.700C>A	c.(700-702)Ctg>Atg	p.L234M	FLT4_uc003mma.4_Missense_Mutation_p.L234M|FLT4_uc003mmb.1_5'Flank|FLT4_uc011dgy.2_Missense_Mutation_p.L234M|FLT4_uc011dgz.1_Missense_Mutation_p.L234M|FLT4_uc011dha.1_Missense_Mutation_p.S217R	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	234	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCAACAGCTGGATGTCA	0.592000														58			17		1.15088e-07	1.24477e-07	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37524228	37524228	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37524228G>T	uc002xje.3	+	3	531	c.342G>T	c.(340-342)gaG>gaT	p.E114D	PPP1R16B_uc010ggc.3_Missense_Mutation_p.E114D	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	114					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACAACTTTGAGGAAATTGTGA	0.607000														97			9		0.000274275	0.000282808	1	1	0
ESPL1	9700	broad.mit.edu	37	12	53675330	53675330	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53675330G>A	uc001sck.2	+	12	2630	c.2539G>A	c.(2539-2541)Gat>Aat	p.D847N	ESPL1_uc001scj.2_Missense_Mutation_p.D522N|ESPL1_uc010soe.1_Missense_Mutation_p.D58N	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	847					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GAAGCATCTCGATCAGACTAC	0.478000														169			38		0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19226854	19226854	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19226854C>T	uc021wle.1	-	4	814	c.739G>A	c.(739-741)Gca>Aca	p.A247T	CLTCL1_uc021wld.1_Missense_Mutation_p.A247T|CLTCL1_uc021wlc.1_Missense_Mutation_p.A247T|CLTCL1_uc021wlf.1_Missense_Mutation_p.A247T|CLTCL1_uc011agw.1_Missense_Mutation_p.A247T	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	247	Globular terminal domain.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATCTACTGCTTTCTTTACA	0.443000			T	?	ALCL									259			54		0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9486952	9486952	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9486952C>T	uc003brt.3	+	11	1843	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	SETD5_uc003brs.1_Missense_Mutation_p.P451S|SETD5_uc003bru.3_Missense_Mutation_p.P372S|SETD5_uc003brv.3_Missense_Mutation_p.P359S|SETD5_uc010hck.3_5'UTR|SETD5_uc003brw.1_Missense_Mutation_p.P139S|SETD5_uc003brx.3_Missense_Mutation_p.P139S	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	470										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAAGAAGTTCCAGAAAAAGT	0.468000														27			8		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351281	40351281	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40351281C>T	uc003gva.1	+	3	764	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	250					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCCATGCGTCCTCATATCTTT	0.517000														571			109		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43613844	43613844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43613844C>T	uc001jal.3	+	12	2498	c.2308C>T	c.(2308-2310)Cga>Tga	p.R770*	RET_uc001jak.1_Nonsense_Mutation_p.R770*|RET_uc010qez.1_Nonsense_Mutation_p.R516*	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	770	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R770*(2)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAGTGAGCTGCGAGACCTGCT	0.562000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					66			10		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135199477	135199477	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135199477A>G	uc002ttw.4	+	14	2163	c.2018A>G	c.(2017-2019)gAc>gGc	p.D673G		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	673					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		AAGGACAAGGACATGCTGAAG	0.587000														221			24		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72307142	72307142	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72307142C>T	uc001jrd.4	+	17	2483	c.2202C>T	c.(2200-2202)agC>agT	p.S734S	KIAA1274_uc001jre.4_Silent_p.S25S	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	734										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						ACACTGTCAGCGAGACCATGA	0.647000														223			23		0	0	1	0	0
KCNE4	23704	broad.mit.edu	37	2	223917882	223917882	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:223917882G>A	uc002vnl.4	+	1	488	c.334G>A	c.(334-336)Gcg>Acg	p.A112T	KCNE4_uc021vxi.1_Missense_Mutation_p.A112T	NM_080671	NP_542402	Q8WWG9	KCNE4_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 4 (KCNE4), mRNA.	112						integral to membrane	voltage-gated potassium channel activity			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTGGCGCCCGCGCTGTCCTG	0.672000														128			53		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38524754	38524754	+	Silent	SNP	G	A	A	rs41285127		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38524754G>A	uc003cif.3	+	10	1494	c.1470G>A	c.(1468-1470)tcG>tcA	p.S490S	ACVR2B_uc003cig.3_Silent_p.S281S	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	490					BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCACTACCTCGGACTGTCTCG	0.592000														193			55		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91770280	91770280	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91770280C>T	uc010aty.3	-	19	3554	c.3400G>A	c.(3400-3402)Gcg>Acg	p.A1134T		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1134					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GTGTACTGCGCGGTGAGCGCT	0.662000														191			40		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045103	80045103	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045103G>T	uc002kdu.3	-	20	3367	c.3250C>A	c.(3250-3252)Ctg>Atg	p.L1084M	FASN_uc002kdw.1_Missense_Mutation_p.L300M	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1084					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTGACCCTCAGCCACCTGCTC	0.687000														42			9		7.48243e-07	8.00842e-07	1	1	0
TECR	9524	broad.mit.edu	37	19	14676616	14676616	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14676616G>A	uc002mza.3	+	12	990	c.860G>A	c.(859-861)cGc>cAc	p.R287H	TECR_uc010xns.2_Missense_Mutation_p.R132H|TECR_uc002mzc.3_Missense_Mutation_p.R132H|TECR_uc002mzb.3_Missense_Mutation_p.R302H|TECR_uc002mze.3_Missense_Mutation_p.R113H	NM_138501	NP_612510	Q9NZ01	TECR_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase (TECR), transcript variant 1, mRNA.	287					fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						GGCAAGCACCGCAGCTACCTG	0.662000														40			9		0	0	1	0	0
NEK7	140609	broad.mit.edu	37	1	198201767	198201767	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:198201767G>T	uc001gun.4	+	2	384	c.57_splice	c.e2+1	p.Q19_splice	NEK7_uc021pgx.1_Splice_Site_p.Q19_splice	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	19						cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						TCCAACCACAGGTAATTTATC	0.363000														72			34		9.80977e-26	1.22345e-25	1	1	0
LRSAM1	90678	broad.mit.edu	37	9	130230041	130230041	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130230041C>A	uc004brb.2	+	9	923	c.551C>A	c.(550-552)gCc>gAc	p.A184D	LRSAM1_uc010mxk.2_Missense_Mutation_p.A184D|LRSAM1_uc004brc.2_Missense_Mutation_p.A184D|LRSAM1_uc004brd.2_Missense_Mutation_p.A184D	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	184					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						GACGCCTCGGCCATGGTCTAC	0.582000														32			13		0.000219431	0.000226893	1	1	0
DHX16	8449	broad.mit.edu	37	6	30628018	30628018	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30628018C>T	uc003nqz.3	-	10	1757	c.1545_splice	c.e10-1	p.S515_splice	DHX16_uc003nqy.3_Splice_Site_p.G34_splice|DHX16_uc011dmo.2_Splice_Site_p.S455_splice	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	515	Helicase ATP-binding.				RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						ACCATCACCACGCTGGGGAGG	0.512000														84			21		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67768123	67768123	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:67768123C>A	uc002aqo.2	+	17	2863	c.2766C>A	c.(2764-2766)atC>atA	p.I922I	IQCH_uc002aqp.2_Silent_p.I583I|IQCH_uc002aqq.2_Silent_p.I579I|LOC100506686_uc002aqr.2_Intron|LOC100506686_uc021spf.1_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	922										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TTCTCCAGATCTGTAGGGCCC	0.502000														80			20		4.35082e-09	4.81328e-09	1	1	0
WDR24	84219	broad.mit.edu	37	16	737187	737187	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:737187G>A	uc002ciz.1	-	2	1649	c.889C>T	c.(889-891)Cga>Tga	p.R297*	JMJD8_uc002ciw.1_5'Flank|JMJD8_uc002ciy.1_5'Flank	NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	427										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GTGACGTCTCGGTGTTCCTCA	0.637000														134			29		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29629167	29629167	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29629167G>A	uc001rix.1	-	12	1443	c.1443C>T	c.(1441-1443)taC>taT	p.Y481Y		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	481	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CAGAATCACCGTAAATCACAA	0.398000														164			33		0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145533580	145533580	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145533580G>A	uc003zbt.4	+	3	656	c.486G>A	c.(484-486)aaG>aaA	p.K162K	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	162	Hydrophobic repeat HR-A/B.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TGGCCATGAAGCAGTAGGTCC	0.647000														90			17		0	0	1	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24910055	24910055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:24910055C>T	uc001isb.2	-	8	1256	c.769G>A	c.(769-771)Gtt>Att	p.V257I	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.V257I|ARHGAP21_uc010qdc.1_Missense_Mutation_p.V92I|ARHGAP21_uc001isc.1_Missense_Mutation_p.V247I	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	256					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GATTTTGCAACATCTGTTGGT	0.413000														98			16		0	0	1	0	0
MMP9	4318	broad.mit.edu	37	20	44644913	44644913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44644913G>A	uc002xqz.3	+	12	2049	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	677	Hemopexin-like 4.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TGCCAGGACCGCTTCTACTGG	0.522000														143			9		0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85974159	85974159	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85974159C>A	uc001kcv.3	+	16	2467	c.2362C>A	c.(2362-2364)Ctc>Atc	p.L788I	CDHR1_uc001kcw.3_Intron|CDHR1_uc009xst.3_Missense_Mutation_p.L492I|CDHR1_uc001kcx.3_Missense_Mutation_p.L102I	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	788	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						AAGCTCTCTGCTCCCGAGAGC	0.592000														331			42		9.62906e-15	1.13441e-14	1	1	0
IKBKAP	8518	broad.mit.edu	37	9	111653624	111653624	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:111653624G>A	uc004bdm.4	-	27	3539	c.3019C>T	c.(3019-3021)Ctc>Ttc	p.L1007F	IKBKAP_uc004bdl.3_Missense_Mutation_p.L658F|IKBKAP_uc011lwc.2_Missense_Mutation_p.L893F|IKBKAP_uc010mtq.3_Missense_Mutation_p.L658F|IKBKAP_uc004bdk.3_Missense_Mutation_p.L11F|IKBKAP_uc010mtp.3_Non-coding_Transcript	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	1007					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAAACATGAGCCCCGCTGGC	0.527000														129			23		0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47423229	47423229	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47423229C>T	uc010ekv.3	+	0	1297	c.1297C>T	c.(1297-1299)Cga>Tga	p.R433*		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	433	FF 3.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	p.R433*(2)									AGTTGAGATGCGAAGGGCGTT	0.463000														125			26		0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30038975	30038975	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30038975C>T	uc003npe.3	-	3	1238	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	RNF39_uc003npd.3_Silent_p.A326A	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	392	B30.2/SPRY.					cytoplasm	zinc ion binding										GGGGGCCAGGCGCCTGGAAGG	0.687000														34			11		0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33960892	33960892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33960892C>T	uc003and.4	-	6	1308	c.729G>A	c.(727-729)acG>acA	p.T243T	LARGE_uc011amd.2_Silent_p.T42T|LARGE_uc003ane.4_Silent_p.T243T|LARGE_uc010gwp.3_Silent_p.T243T|LARGE_uc011ame.2_Silent_p.T175T|LARGE_uc011amf.2_Silent_p.T243T|LARGE_uc010gwq.1_Non-coding_Transcript	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	243					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				AGGTGATATCCGTGTCAAGGA	0.478000														131			20		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55995070	55995070	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55995070C>T	uc021vbv.1	+	0	2498	c.2498C>T	c.(2497-2499)gCg>gTg	p.A833V	ZNF628_uc002qld.2_Missense_Mutation_p.A833V|NAT14_uc002qle.2_5'Flank	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	833	4 X approximate tandem repeats.					nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CTCCAGCCAGCGCAGGAGGTG	0.657000														169			49		0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578621	85578621	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85578621C>T	uc003kiq.2	+	0	360	c.98C>T	c.(97-99)gCa>gTa	p.A33V						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		AGCGAGAGGGCAGAGATGAAC	0.502000														124			17		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86122939	86122939	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86122939A>G	uc002blv.1	+	6	1810	c.1640A>G	c.(1639-1641)aAa>aGa	p.K547R	AKAP13_uc002blt.1_Missense_Mutation_p.K547R|AKAP13_uc002blu.1_Missense_Mutation_p.K547R	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	547					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						GATGGTAACAAACCTGCTGAG	0.488000														181			36		0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071173	27071173	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:27071173T>C	uc002ylp.1	+	4	1124	c.579T>C	c.(577-579)aaT>aaC	p.N193N	JAM2_uc011ace.1_Silent_p.N193N|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Silent_p.N157N	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	193	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						ACACAATGAATACAAAAACTG	0.373000														123			25		0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692925	135692925	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135692925C>T	uc003lbn.2	-	1	373	c.151G>A	c.(151-153)Gct>Act	p.A51T	TRPC7_uc010jef.2_Missense_Mutation_p.A42T|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.A51T|TRPC7_uc010jei.2_Missense_Mutation_p.A51T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	51					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCATACTCAGCCGAGTCCAGG	0.607000														348			59		0	0	1	0	0
SPATA17	128153	broad.mit.edu	37	1	217824443	217824443	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:217824443T>A	uc001hlh.1	+	2	189	c.163T>A	c.(163-165)Tta>Ata	p.L55I	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	55	IQ 1.|IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TCCTAGGCATTTAAACAGGAT	0.284000														54			14		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55533931	55533931	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55533931G>A	uc003xsd.1	+	1	553	c.405G>A	c.(403-405)gcG>gcA	p.A135A	RP1_uc011ldy.1_Silent_p.A135A	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	135					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.A135A(2)|p.A135T(2)|p.A135V(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATTAGCGCGCACTCACCGC	0.692000														225			61		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9862923	9862923	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9862923G>T	uc010uym.2	-	12	2690	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	GRIN2A_uc002czo.4_Missense_Mutation_p.L794M|GRIN2A_uc010uyn.2_Missense_Mutation_p.L637M|GRIN2A_uc002czr.4_Missense_Mutation_p.L794M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	794					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTGAGCCACAGGGTCTCCAGC	0.557000														115			18		5.03518e-11	5.70985e-11	1	1	0
KIF21B	23046	broad.mit.edu	37	1	200974440	200974440	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200974440T>C	uc001gvs.2	-	4	1045	c.728A>G	c.(727-729)gAc>gGc	p.D243G	KIF21B_uc009wzl.2_Missense_Mutation_p.D243G|KIF21B_uc001gvr.2_Missense_Mutation_p.D243G|KIF21B_uc010ppn.2_Missense_Mutation_p.D243G|KIF21B_uc001gvt.1_Missense_Mutation_p.D26G	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	243	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CCTCACCAGGTCGGGCTGGGT	0.622000														148			27		0	0	1	0	0
FTSJD2	23070	broad.mit.edu	37	6	37441300	37441300	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37441300C>A	uc003ons.3	+	16	1997	c.1744C>A	c.(1744-1746)Ctg>Atg	p.L582M		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	582					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CTCTAAAACCCTGGAGAAGAT	0.562000														182			38		3.62531e-18	4.37168e-18	1	1	0
OR52A1	23538	broad.mit.edu	37	11	5173380	5173380	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5173380C>T	uc010qyy.2	-	0	220	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	74					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAGCAAGTGCAATGTCTGTG	0.418000														74			9		0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74054391	74054391	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74054391A>G	uc001ovb.1	-	9	1585	c.1289T>C	c.(1288-1290)cTt>cCt	p.L430P		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	430					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					AAATGCAAAAAGGACTTCTTT	0.318000														81			23		0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55761032	55761032	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55761032G>A	uc002ryx.2	+	5	694	c.496G>A	c.(496-498)Gat>Aat	p.D166N	CCDC104_uc002ryy.2_Missense_Mutation_p.D141N|MtDNA_ssA_uc021vhu.1_5'Flank	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	141										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGCTTAACCGATGGCTCTGA	0.358000														75			20		0	0	1	0	0
SLC12A3	6559	broad.mit.edu	37	16	56906698	56906698	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56906698G>T	uc002ekd.4	+	8	1124	c.1095_splice	c.e8+1	p.K365_splice	SLC12A3_uc010ccm.3_Splice_Site_p.K365_splice|SLC12A3_uc010ccn.3_Splice_Site_p.K364_splice	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	365					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GTGACCTCAAGGTGAGCAGAA	0.597000														112			26		7.76418e-22	9.54963e-22	1	1	0
N4BP2	55728	broad.mit.edu	37	4	40138628	40138628	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40138628G>A	uc003guy.4	+	13	5049	c.4711G>A	c.(4711-4713)Gtt>Att	p.V1571I	N4BP2_uc010ifq.3_Missense_Mutation_p.V1491I|N4BP2_uc010ifr.3_Missense_Mutation_p.V1491I	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1571						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TGTAAAAACAGTTGTAGCCCA	0.338000														38			12		0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006790	8006790	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:8006790C>T	uc010qbd.2	+	2	1317	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	439					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTTCCACTTCCGCGAACAATT	0.468000														169			31		0	0	1	0	0
GABRA4	2557	broad.mit.edu	37	4	46976326	46976326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:46976326G>A	uc003gxg.3	-	5	1627	c.644C>T	c.(643-645)cCg>cTg	p.P215L	GABRA4_uc021xnz.1_Missense_Mutation_p.P196L|GABRA4_uc021xoa.1_Missense_Mutation_p.P196L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	215					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.P215L(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGACTCCTTCGGAACTTCAAC	0.393000														74			18		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541337	55541337	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55541337C>A	uc010ril.2	+	0	424	c.424C>A	c.(424-426)Ctc>Atc	p.L142I		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L142P(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GTCTCAGAAGCTCTGTGCTCT	0.428000														241			49		2.29192e-23	2.83726e-23	1	1	0
USP16	10600	broad.mit.edu	37	21	30419159	30419159	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30419159G>A	uc002ymy.3	+	13	1730	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	USP16_uc002ymx.3_Missense_Mutation_p.V509I|USP16_uc002ymw.3_Missense_Mutation_p.V510I|USP16_uc011acm.2_Missense_Mutation_p.V495I|USP16_uc011acn.2_Missense_Mutation_p.V176I|USP16_uc011aco.2_Missense_Mutation_p.V200I	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	510					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGAATATTGTGTCAACCAGAA	0.333000														57			6		0	0	1	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434167	22434167	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22434167T>A	uc021rpm.1	+	1	258	c.220T>A	c.(220-222)Tcc>Acc	p.S74T	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		GTACACATACTCCAGTGGTAA	0.433000														200			50		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17156420	17156420	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17156420T>C	uc001mmq.4	-	9	2119	c.2054A>G	c.(2053-2055)cAg>cGg	p.Q685R	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.Q305R|PIK3C2A_uc001mmr.3_Intron|PIK3C2A_uc010rcx.1_Missense_Mutation_p.Q685R	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	685					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAACTGGAGCTGCTCTGTTGT	0.428000														158			36		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204426936	204426936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204426936C>T	uc001haw.3	-	9	2112	c.1633G>A	c.(1633-1635)Gcc>Acc	p.A545T	PIK3C2B_uc010pqv.2_Missense_Mutation_p.A545T|PIK3C2B_uc001hax.1_Missense_Mutation_p.A545T|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	545					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTCCACGGCGGCCAGGGCG	0.632000														88			14		0	0	1	0	0
WBP4	11193	broad.mit.edu	37	13	41646932	41646932	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:41646932C>T	uc001uxt.3	+	6	614	c.501C>T	c.(499-501)acC>acT	p.T167T	WBP4_uc010tfd.2_Silent_p.T146T	NM_007187	NP_009118	O75554	WBP4_HUMAN	Homo sapiens WW domain binding protein 4 (formin binding protein 21) (WBP4), mRNA.	167	WW 2.				nuclear mRNA cis splicing, via spliceosome	nuclear speck|spliceosomal complex	nucleic acid binding|proline-rich region binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|prostate(1)|skin(1)	12		Lung NSC(96;3.55e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;3.11e-09)|Epithelial(112;3.37e-06)|OV - Ovarian serous cystadenocarcinoma(117;8.3e-05)|GBM - Glioblastoma multiforme(144;0.00102)|BRCA - Breast invasive adenocarcinoma(63;0.07)		CAGTGAAGACCGTTTGGGTAG	0.358000														88			10		0	0	1	0	0
EDC3	80153	broad.mit.edu	37	15	74948392	74948392	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74948392G>A	uc002ayn.3	-	6	990	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	EDC3_uc002ayo.3_Missense_Mutation_p.H168Y|EDC3_uc002aym.3_Missense_Mutation_p.H168Y	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	168					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding	p.R167K(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TGATTTGGGTGCCTGCTACTA	0.438000														130			7		0	0	1	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55344225	55344225	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55344225G>A	uc002qhm.1	+	0	52	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Silent_p.S2S	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	2					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCATGTCGCTCATGGTCA	0.602000														264			57		0	0	1	0	0
PGM2L1	283209	broad.mit.edu	37	11	74049647	74049647	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74049647C>A	uc001ovb.1	-	13	1929	c.1633_splice	c.e13-1	p.V545_splice		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	545					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CAGGCAGCACCTATGCAAAAT	0.343000														120			14		9.31168e-06	9.81217e-06	1	1	0
EPS8L1	54869	broad.mit.edu	37	19	55589480	55589480	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55589480C>T	uc002qis.4	+	2	146	c.42C>T	c.(40-42)agC>agT	p.S14S	EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Silent_p.S14S|EPS8L1_uc010yfr.2_Intron|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	14						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAAAGCCAAGCGCCAAGTCTA	0.577000														85			15		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285813	152285813	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152285813G>A	uc001ezu.1	-	2	1585	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	517	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTGTCCACGAATGGTGTCC	0.602000									Ichthyosis					688			224		0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57396934	57396934	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57396934G>T	uc001sml.2	-	1	1921	c.1768C>A	c.(1768-1770)Ctg>Atg	p.L590M	ZBTB39_uc021qzg.1_Missense_Mutation_p.L590M	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCTTCACCCAGAAACTCCTCT	0.562000														116			28		2.24059e-21	2.74853e-21	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13906396	13906396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13906396G>A	uc001rbt.2	-	2	1044	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	289					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTGGCGGGGAGGCCATAGTCC	0.537000														86			17		0	0	1	0	0
RAB4B	53916	broad.mit.edu	37	19	41289706	41289706	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41289706G>A	uc002opd.2	+	3	393	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	RAB4B_uc010xvt.1_Non-coding_Transcript|RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.R105Q	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	79					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGTTATTACCGAGGGGCGGCT	0.667000														71			18		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	24102519	24102519	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:24102519T>C	uc001rfw.3	-	0	119	c.17A>G	c.(16-18)gAt>gGt	p.D6G	SOX5_uc001rfx.3_Intron|SOX5_uc001rfy.3_Intron|SOX5_uc010siv.2_Intron|SOX5_uc010siw.1_Intron|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Missense_Mutation_p.D6G	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	6					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTGAGGTAAATCAGGGTCAGT	0.423000														116			7		0	0	1	0	0
GAS8	2622	broad.mit.edu	37	16	90097793	90097793	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90097793C>A	uc002fqi.1	+	2	299	c.177C>A	c.(175-177)atC>atA	p.I59I	GAS8_uc010vps.1_Silent_p.I34I|GAS8_uc002fqh.2_5'UTR|GAS8_uc010vpt.1_Silent_p.I59I|GAS8_uc010vpu.1_5'UTR|GAS8_uc010vpv.1_Silent_p.I30I|GAS8_uc010cjc.1_5'UTR|GAS8_uc010vpw.1_5'UTR|GAS8_uc002fqj.1_5'UTR|C16orf3_uc002fqk.1_5'Flank	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	59	Regulates microtubule-binding (By similarity).				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		GGGACAAGATCCACACCTTCT	0.622000														95			5		0.000602214	0.000618135	1	1	0
GNB4	59345	broad.mit.edu	37	3	179123034	179123034	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179123034G>A	uc003fjv.4	-	8	1140	c.860C>T	c.(859-861)gCt>gTt	p.A287V	GNB4_uc003fju.4_Intron	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	287					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			ATCGTAACCAGCCAACAAGAG	0.403000														107			27		0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	360044	360044	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:360044G>A	uc002cgp.2	-	3	1434	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.R349C	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	349	Interaction with GSK3B (By similarity).				Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis|activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	GTPase activator activity|I-SMAD binding|armadillo repeat domain binding|beta-catenin binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.R349C(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCTGCTTACGGATCCTGTAT	0.617000														38			7		0	0	1	0	0
HSF5	124535	broad.mit.edu	37	17	56565462	56565462	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56565462G>A	uc002iwi.1	-	0	298	c.174C>T	c.(172-174)ggC>ggT	p.G58G		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					tcccgccaccgccccccggcc	0.716000														53			14		0	0	1	0	0
AFF1	4299	broad.mit.edu	37	4	88035561	88035561	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88035561C>A	uc011ccz.2	+	11	1851	c.1576C>A	c.(1576-1578)Ctg>Atg	p.L526M	AFF1_uc003hqj.4_Missense_Mutation_p.L519M|AFF1_uc003hqk.4_Missense_Mutation_p.L519M|AFF1_uc011cda.2_Missense_Mutation_p.L157M	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	519						nucleus	sequence-specific DNA binding transcription factor activity	p.W525fs*19(2)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GGACAACTGGCTGACCAAAGT	0.527000														68			8		0.000157383	0.000162836	1	1	0
CEP152	22995	broad.mit.edu	37	15	49089912	49089912	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49089912C>T	uc001zwz.3	-	3	400	c.207G>A	c.(205-207)gaG>gaA	p.E69E	CEP152_uc001zwy.3_Silent_p.E69E|CEP152_uc001zxa.2_Silent_p.E69E	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	69					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding	p.E69E(2)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCTCCAATTGCTCAGGATGAT	0.388000														110			22		0	0	1	0	0
GOLGA6L1	283767	broad.mit.edu	37	15	23410635	23410635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:23410635G>A	uc010uab.1	-	4	447	c.422C>T	c.(421-423)gCg>gTg	p.A141V	DQ595648_uc002ceb.3_5'Flank	NM_001001413	NP_001001413			Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.											NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						CACCCTATCCGCCTTCTTCTT	0.567000														8			7		0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139598041	139598041	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:139598041G>T	uc021zfy.1	-	2	607	c.442C>A	c.(442-444)Cta>Ata	p.L148I		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	148						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TTTTGCATTAGCAGGTTGGCT	0.353000														58			14		3.45872e-05	3.61362e-05	1	1	0
ZNF678	339500	broad.mit.edu	37	1	227843057	227843057	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227843057G>T	uc021pjy.1	+	3	1447	c.1271G>T	c.(1270-1272)aGa>aTa	p.R424I	ZNF678_uc001hqw.2_Missense_Mutation_p.R369I|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	424					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.R369I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CAGCATAAAAGAATTCATACT	0.388000														54			16		4.14922e-12	4.76557e-12	1	1	0
PRKCSH	5589	broad.mit.edu	37	19	11557939	11557939	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11557939C>T	uc010xlz.2	+	9	1149	c.813C>T	c.(811-813)cgC>cgT	p.R271R	PRKCSH_uc002mrt.3_Silent_p.R271R|PRKCSH_uc002mru.3_Silent_p.R271R|PRKCSH_uc002mrv.1_Silent_p.R271R|PRKCSH_uc010dyb.3_Silent_p.R271R	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	271	EF-hand 2.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCTACGACCGCGTCTGGGCCG	0.637000											OREG0025258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		119			32		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905311	129905311	+	Missense_Mutation	SNP	C	T	T	rs78597473		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905311C>T	uc001lke.3	-	12	4988	c.4793G>A	c.(4792-4794)cGa>cAa	p.R1598Q	MKI67_uc001lkf.3_Missense_Mutation_p.R1238Q|MKI67_uc009yav.1_Missense_Mutation_p.R1173Q|MKI67_uc009yaw.1_Missense_Mutation_p.R748Q	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTGTGACCTCGTGTCTGGAA	0.483000														318			70		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182308	140182308	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140182308C>T	uc003lhf.2	+	0	1526	c.1526C>T	c.(1525-1527)tCg>tTg	p.S509L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S509L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	523	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTACGTGTCGGTACACGCG	0.697000														380			81		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590991	86590991	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86590991G>A	uc001dlj.3	-	2	1103	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.T343I	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	343					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTTGTCTGAGTATCTTCCTC	0.413000														78			23		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109201572	109201572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109201572C>T	uc001tnm.3	-	7	655	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Missense_Mutation_p.E201K|SSH1_uc001tnn.4_Missense_Mutation_p.E190K|SSH1_uc001tno.1_Missense_Mutation_p.E94K	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	190					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGGGCCACTTCGCAGGCCTTG	0.592000														109			21		0	0	1	0	0
MDGA1	266727	broad.mit.edu	37	6	37619936	37619936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37619936C>T	uc003onu.1	-	6	2342	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MDGA1_uc003onw.3_Non-coding_Transcript	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	388	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						AGGATCATTGCGGGTCACCAG	0.587000														145			21		0	0	1	0	0
SHCBP1	79801	broad.mit.edu	37	16	46629512	46629512	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:46629512C>T	uc002eec.4	-	9	1456	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	472										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTGCTGATGTCCGCACTGTGA	0.453000														128			15		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55965763	55965763	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55965763C>T	uc002adg.3	-	9	1706	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H	PRTG_uc002adh.3_Missense_Mutation_p.R55H	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	553	Fibronectin type-III 2.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GAAAGACAAGCGATACAGCAC	0.512000														204			38		0	0	1	0	0
C3	718	broad.mit.edu	37	19	6684416	6684416	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6684416G>T	uc002mfm.3	-	32	4217	c.4155C>A	c.(4153-4155)atC>atA	p.I1385I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1385					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATCTCAAGGATCATAGTGT	0.453000														174			27		6.07407e-21	7.43637e-21	1	1	0
DNHD1	144132	broad.mit.edu	37	11	6588955	6588955	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6588955G>A	uc001mdw.4	+	35	12780	c.12216G>A	c.(12214-12216)acG>acA	p.T4072T	DNHD1_uc001mea.4_Silent_p.T341T|DNHD1_uc001meb.3_Silent_p.T340T|DNHD1_uc001mec.3_Silent_p.T340T|DNHD1_uc010rao.2_Silent_p.T330T|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4072					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAAACACGTATGCTCCCA	0.592000														154			41		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220367140	220367140	+	Missense_Mutation	SNP	G	A	A	rs138077680	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220367140G>A	uc002vlv.3	+	5	841	c.466G>A	c.(466-468)Gtt>Att	p.V156I	GMPPA_uc002vlr.3_Missense_Mutation_p.V156I	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	156			V -> A (in dbSNP:rs13396066).		GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CGGCTGCATCGTTGAGAATCC	0.567000														54			7		0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9970068	9970068	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9970068G>A	uc003bua.3	+	10	1388	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	CIDEC_uc003bto.3_Intron|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Silent_p.P294P|IL17RC_uc003btz.3_Silent_p.P319P|IL17RC_uc011atp.2_Silent_p.P175P|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Silent_p.P319P|IL17RC_uc010hcu.3_Silent_p.P319P|IL17RC_uc003bub.3_Silent_p.P304P|IL17RC_uc010hcv.3_Silent_p.P304P|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Silent_p.P304P|IL17RC_uc003bue.3_5'Flank	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	390						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGACGCACCGTGCTCGCTGC	0.682000														234			58		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285335	223285335	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223285335G>T	uc021pjl.1	-	0	1039	c.1039C>A	c.(1039-1041)Ctt>Att	p.L347I	TLR5_uc001hnv.2_Missense_Mutation_p.L347I|TLR5_uc001hnw.2_Missense_Mutation_p.L347I	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	347					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCCCCCAGAAGGTTATATGAC	0.363000														149			27		7.92952e-12	9.07913e-12	1	1	0
MMP8	4317	broad.mit.edu	37	11	102595565	102595565	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102595565G>A	uc001phe.2	-	0	121	c.22C>T	c.(22-24)Cca>Tca	p.P8S	MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_5'UTR	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	8					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	p.P8P(1)		autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		AGCAGAAATGGAAGCGTCTTC	0.458000														167			34		0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88828668	88828668	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88828668A>G	uc002stb.2	+	3	361	c.219A>G	c.(217-219)agA>agG	p.R73R		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	73						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						CTTTCAAAAGACCCCACATGA	0.567000														181			41		0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563851	64563851	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64563851G>A	uc001obh.3	-	23	1737	c.1645C>T	c.(1645-1647)Cac>Tac	p.H549Y	MAP4K2_uc001obi.3_Missense_Mutation_p.H541Y	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	549	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	Golgi membrane|basolateral plasma membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GCCCAGATGTGCGTGGATTTC	0.647000														122			34		0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149369	70149369	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70149369T>C	uc001svp.3	+	1	676	c.229T>C	c.(229-231)Tct>Cct	p.S77P	RAB3IP_uc021rao.1_Missense_Mutation_p.S61P|RAB3IP_uc001svm.3_Missense_Mutation_p.S61P|RAB3IP_uc001svn.3_Missense_Mutation_p.S61P|RAB3IP_uc001svo.3_Non-coding_Transcript|RAB3IP_uc001svq.3_Missense_Mutation_p.S77P|RAB3IP_uc001svs.3_Non-coding_Transcript	NM_175623	NP_001019818	Q96QF0	RAB3I_HUMAN	Homo sapiens RAB3A interacting protein (rabin3) (RAB3IP), transcript variant alpha 2, mRNA.	77					Golgi to plasma membrane transport|cilium assembly|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			ATTAGATGTTTCTGAACTTCC	0.418000														93			21		0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86459903	86459903	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86459903C>A	uc021vke.1	-	5	468	c.461G>T	c.(460-462)aGa>aTa	p.R154I	REEP1_uc002srh.4_Missense_Mutation_p.R147I|REEP1_uc010yth.2_Missense_Mutation_p.R120I|REEP1_uc010yti.2_Missense_Mutation_p.D69Y|REEP1_uc010ytg.2_Missense_Mutation_p.R126I	NM_001164730	NP_001158202	Q9H902	REEP1_HUMAN	Homo sapiens receptor accessory protein 1 (REEP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	147					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCTCCGCAGTCTCTCCGATAA	0.667000														82			36		2.48696e-23	3.07766e-23	1	1	0
OTX1	5013	broad.mit.edu	37	2	63283199	63283199	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63283199C>A	uc021vim.1	+	4	1089	c.813C>A	c.(811-813)tcC>tcA	p.S271S	OTX1_uc002scd.3_Silent_p.S271S|OTX1_uc010ypt.2_Silent_p.S205S	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	271						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CACCCTCCTCCATGGCGGGCC	0.637000														342			119		5.34132e-43	6.80004e-43	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73280626	73280626	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73280626C>T	uc003hgk.2	-	3	604	c.567G>A	c.(565-567)caG>caA	p.Q189Q		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	189					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCCTCCATCTGTTTACCTC	0.378000														94			8		0	0	1	0	0
BCRP3	644165	broad.mit.edu	37	22	25043008	25043008	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25043008G>A	uc011ajv.2	+	3	738	c.381G>A	c.(379-381)gtG>gtA	p.V127V	POM121L10P_uc003abc.2_Non-coding_Transcript					Homo sapiens breakpoint cluster region pseudogene 3 (BCRP3), non-coding RNA.																		ATGCGCCAGTGCGTGGAGGAG	0.622000														49			14		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97321313	97321313	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:97321313C>A	uc004auv.3	-	6	994	c.927G>T	c.(925-927)gaG>gaT	p.E309D	BC080653_uc004aus.1_Non-coding_Transcript|BC080653_uc004aut.1_Non-coding_Transcript	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	309					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGTGAATTGCCTCGGGCTTCA	0.572000														161			25		3.73808e-20	4.55875e-20	1	1	0
AFF1	4299	broad.mit.edu	37	4	87968170	87968170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:87968170G>A	uc011ccz.2	+	3	758	c.483G>A	c.(481-483)ccG>ccA	p.P161P	AFF1_uc011ccx.2_Silent_p.P95P|AFF1_uc003hqh.2_Silent_p.P161P|AFF1_uc011ccy.2_Silent_p.P161P|AFF1_uc003hqj.4_Silent_p.P154P|AFF1_uc003hqk.4_Silent_p.P154P|AFF1_uc011cda.2_Intron	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	154						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GCGGCCCACCGGACAGCCAGC	0.557000														194			13		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18133300	18133300	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18133300G>A	uc002gsp.3	+	1	188	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	43					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CCTGGCCTTCGACCCGGAACT	0.622000														212			59		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35068238	35068238	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35068238C>T	uc002xff.3	+	4	1758	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	DLGAP4_uc010zvp.2_Silent_p.S441S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	441					cell-cell signaling	membrane	protein binding	p.S441S(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCCGTCAGCGACAGCCTCA	0.632000											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			10		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65392409	65392409	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65392409G>A	uc001oey.2	+	15	2841	c.2841G>A	c.(2839-2841)ccG>ccA	p.P947P	PCNXL3_uc009yqn.3_5'Flank|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	947						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCACCAGCCCGCTCACGGCAG	0.642000														39			11		0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176812408	176812408	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176812408C>T	uc010fqw.1	-	8	704	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	KIAA1715_uc010zes.1_Missense_Mutation_p.R171Q|KIAA1715_uc002ukd.1_Missense_Mutation_p.R46Q|KIAA1715_uc002ukc.1_Missense_Mutation_p.R169Q|KIAA1715_uc010zer.1_Missense_Mutation_p.R169Q|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	169	Pro-rich.					integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			AGCTGCAGTTCGCTGACGAAT	0.403000														135			12		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113246693	113246693	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113246693G>A	uc003ynu.3	-	67	10800	c.10641C>T	c.(10639-10641)agC>agT	p.S3547S	CSMD3_uc003yns.3_Silent_p.S2749S|CSMD3_uc003ynt.3_Silent_p.S3507S|CSMD3_uc011lhx.2_Silent_p.S3378S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3547						integral to membrane|plasma membrane		p.S3547I(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						GAGCTTCCTGGCTTTTATATA	0.323000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				101			31		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42837896	42837896	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42837896G>A	uc002otl.4	+	1	962	c.327G>A	c.(325-327)ccG>ccA	p.P109P		NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	109	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCGACCTCCGCCCATCGAAG	0.582000														130			23		0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49796490	49796490	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49796490G>A	uc010tgj.2	+	1	1216	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	406					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGAGACAAGCGCTAACGTGAA	0.557000														64			11		0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4874633	4874633	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4874633G>T	uc001qne.1	+	9	1774	c.1682G>T	c.(1681-1683)gGc>gTc	p.G561V		NM_017417	NP_059113	Q9NY28	GALT8_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.	561	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ACAGACCCTGGCAAGGCGGAG	0.448000														81			21		1.01871e-10	1.15017e-10	1	1	0
C1orf100	200159	broad.mit.edu	37	1	244541861	244541861	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244541861G>A	uc001iah.3	+	3	358	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	C1orf100_uc001iai.3_Intron	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.	82										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			ATTTGTCTTCGAAGACATTCA	0.418000														123			13		0	0	1	0	0
FAM55D	54827	broad.mit.edu	37	11	114465413	114465413	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114465413A>C	uc001ppc.3	-	1	250	c.69T>G	c.(67-69)atT>atG	p.I23M	FAM55D_uc001ppd.3_5'UTR	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	23						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AAACTGTAAAAATGATCCAGG	0.328000														107			11		0	0	1	0	0
FAM149A	25854	broad.mit.edu	37	4	187074871	187074871	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187074871C>T	uc003iyt.4	+	4	738	c.159C>T	c.(157-159)tcC>tcT	p.S53S	FAM149A_uc011cla.1_Silent_p.S53S|FAM149A_uc010isj.2_Silent_p.S53S|FAM149A_uc010isk.2_Non-coding_Transcript|FAM149A_uc010isl.3_Silent_p.S53S|FAM149A_uc011clb.2_Silent_p.S53S	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	344										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		CTCCTGCCTCCGCAGTCCACA	0.507000														321			77		0	0	1	0	0
MIR656	724026	broad.mit.edu	37	14	101533122	101533122	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:101533122C>T	uc021sdv.1	+	0		c.62C>T								Homo sapiens microRNA 656 (MIR656), microRNA.																		CAGTCAACCTCTTTCCGATAT	0.498000														135			28		0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5248009	5248009	+	Nonsense_Mutation	SNP	C	T	T	rs63750532		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5248009C>T	uc001mae.1	-	1	163	c.113G>A	c.(112-114)tGg>tAg	p.W38*	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	38			W -> G (in Howick).|W -> R (in Rothschild; O(2) affinity down).|W -> S (in Hirose; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CCTCTGGGTCCAAGGGTAGAC	0.522000									Sickle Cell Trait					128			33		0	0	1	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145757761	145757761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145757761C>T	uc003zds.1	-	10	3463	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E939K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E939K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	939	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GCATTCACCTCGTCAATGTCC	0.642000														62			7		0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48739206	48739206	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48739206G>A	uc001rrn.2	-	4	632	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	ZNF641_uc001rro.2_Missense_Mutation_p.R110W|ZNF641_uc010sls.2_Intron	NM_152320	NP_001166152	Q96N77	ZN641_HUMAN	Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA.	124	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TCCAGGCTCCGCCACTCCTCC	0.473000														112			33		0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6196451	6196451	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6196451G>T	uc011jwo.1	+	15	3831	c.3708G>T	c.(3706-3708)aaG>aaT	p.K1236N	USP42_uc011jwp.2_Missense_Mutation_p.K1236N|USP42_uc011jwq.2_Missense_Mutation_p.K1043N	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	1236	Lys-rich.				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACAAAAAAAAGAAGAAGAAAA	0.463000														55			12		5.50884e-06	5.8131e-06	1	1	0
NAV1	89796	broad.mit.edu	37	1	201757711	201757711	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201757711C>T	uc021phi.1	+	9	3458	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	NAV1_uc001gwu.3_Silent_p.A1037A|NAV1_uc001gwv.1_Silent_p.A545A|NAV1_uc001gww.2_Silent_p.A646A|NAV1_uc001gwx.3_Silent_p.A646A|NAV1_uc001gwy.1_Silent_p.A418A	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1037					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGTCCCTGGCCGAGAGACCCA	0.617000														253			49		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26399271	26399271	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26399271G>A	uc003abz.1	+	40	6578	c.6328G>A	c.(6328-6330)Gag>Aag	p.E2110K	MYO18B_uc003aca.1_Missense_Mutation_p.E1991K|MYO18B_uc010guy.1_Missense_Mutation_p.E1992K|MYO18B_uc010guz.1_Missense_Mutation_p.E1990K|MYO18B_uc011aka.1_Missense_Mutation_p.E1264K|MYO18B_uc011akb.1_Missense_Mutation_p.E1623K|MYO18B_uc010gva.1_Intron	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2110						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.E2111Q(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGCCGAAAAGAGATGTAAGT	0.542000														15			9		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87482309	87482309	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87482309C>T	uc004aoa.1	+	14	2486	c.1548C>T	c.(1546-1548)taC>taT	p.Y516Y	NTRK2_uc004any.1_Silent_p.Y516Y|NTRK2_uc004anz.1_Silent_p.Y532Y|NTRK2_uc011lsz.2_Silent_p.Y532Y|NTRK2_uc011lta.2_Silent_p.Y516Y|NTRK2_uc004aoc.3_Silent_p.Y67Y	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	516		Interaction with SHC1 (By similarity).			activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCCCCAGTACTTTGGCATCA	0.448000										TSP Lung(25;0.17)				228			47		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49427246	49427246	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49427246G>T	uc001rta.4	-	38	11242	c.11242C>A	c.(11242-11244)Cta>Ata	p.L3748I		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3748	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACCTGTCCTAGAAGGtgctgc	0.592000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				42			11		1.58986e-06	1.69271e-06	1	1	0
IGHMBP2	3508	broad.mit.edu	37	11	68707097	68707097	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68707097C>A	uc001ook.1	+	14	2982	c.2880C>A	c.(2878-2880)tcC>tcA	p.S960S	IGHMBP2_uc001ool.1_Silent_p.S584S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	960					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding	p.S960F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGAACGGATCCCTGGACCCAG	0.652000														81			23		3.8784e-16	4.61393e-16	1	1	0
TTN	7273	broad.mit.edu	37	2	179434671	179434671	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179434671G>T	uc021vsy.1	-	274	68709	c.68484C>A	c.(68482-68484)taC>taA	p.Y22828*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.Y16523*|TTN_uc021vta.1_Nonsense_Mutation_p.Y16456*|TTN_uc021vtb.1_Nonsense_Mutation_p.Y16331*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23755	Ig-like 117.						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)			AAGCCTTTTGGTAAGCAGAAG	0.433000														76			13		1.49906e-05	1.573e-05	1	1	0
ANO3	63982	broad.mit.edu	37	11	26465342	26465342	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:26465342T>C	uc001mqt.4	+	2	417	c.272T>C	c.(271-273)gTg>gCg	p.V91A	ANO3_uc010rdr.2_Missense_Mutation_p.V75A	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	91						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AACGACTCTGTGCTGAGATGT	0.343000														35			8		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49444835	49444835	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49444835A>G	uc001rta.4	-	9	2631	c.2631T>C	c.(2629-2631)ccT>ccC	p.P877P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	877	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCAGCTCCTCAGGTGCAGGGC	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				202			52		0	0	1	0	0
SEP15	9403	broad.mit.edu	37	1	87329266	87329266	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:87329266A>C	uc021oph.1	-	4	702	c.389T>G	c.(388-390)gTa>gGa	p.V130G	SEP15_uc021opi.1_Missense_Mutation_p.C113W	NM_004261		O60613	SEP15_HUMAN	Homo sapiens 15 kDa selenoprotein (SEP15), transcript variant 1, mRNA.	127					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		AAGCTTTAATACAGGGTCTGA	0.403000														40			4		0	0	1	0	0
FBXO31	79791	broad.mit.edu	37	16	87377229	87377229	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87377229T>G	uc002fjw.3	-	3	676	c.632A>C	c.(631-633)aAa>aCa	p.K211T	FBXO31_uc010vot.2_Missense_Mutation_p.K39T|FBXO31_uc002fjv.3_Missense_Mutation_p.K103T	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	211					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		GTGGGGCCCTTTGTGGCCGTA	0.637000														57			10		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52389063	52389063	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52389063C>A	uc011bef.2	+	20	3946	c.3685C>A	c.(3685-3687)Ctg>Atg	p.L1229M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1229	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAAACTGAAGCTGACCCAGGT	0.577000														98			27		4.87955e-14	5.71551e-14	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139763703	139763703	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139763703G>A	uc003yvd.3	-	21	2530	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	695	Collagen-like 4.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TTACTTACTCGGAGACCTTGC	0.448000										HNSCC(7;0.00092)				82			11		0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31630466	31630466	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31630466C>T	uc003nvn.3	-	2	1309	c.648G>A	c.(646-648)caG>caA	p.Q216Q	C6orf47_uc003nvm.1_5'Flank|GPANK1_uc021yuu.1_Silent_p.Q216Q|GPANK1_uc003nvo.4_Silent_p.Q216Q|GPANK1_uc003nvp.4_Silent_p.Q216Q|GPANK1_uc003nvq.3_Silent_p.Q216Q	NM_033177	NP_149417	O95872	GPAN1_HUMAN	Homo sapiens G patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA.	216						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						TCTCGCAGTACTGGAGGGAGG	0.567000														102			26		0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90647962	90647962	+	Silent	SNP	A	G	G	rs151085282		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90647962A>G	uc011eab.2	-	7	2818	c.1944T>C	c.(1942-1944)caT>caC	p.H648H	BACH2_uc003pnw.3_Silent_p.H648H	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	648						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCGGACATCATGAATAAACT	0.443000														137			40		0	0	1	0	0
OSBPL5	114879	broad.mit.edu	37	11	3128610	3128610	+	Silent	SNP	G	A	A	rs144743928		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3128610G>A	uc001lxk.2	-	8	1100	c.942C>T	c.(940-942)acC>acT	p.T314T	OSBPL5_uc010qxq.1_Silent_p.T225T|OSBPL5_uc009ydw.2_Silent_p.T246T|OSBPL5_uc001lxl.2_Silent_p.T246T|OSBPL5_uc009ydx.3_Silent_p.T338T	NM_020896	NP_065947	Q9H0X9	OSBL5_HUMAN	Homo sapiens oxysterol binding protein-like 5 (OSBPL5), transcript variant 1, mRNA.	314					Golgi to plasma membrane transport|cholesterol metabolic process|cholesterol transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CCTGGGTCTCGGTATCTGACT	0.612000														387			87		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418858	113418858	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113418858A>C	uc003ynu.3	-	34	5863	c.5704T>G	c.(5704-5706)Ttt>Gtt	p.F1902V	CSMD3_uc003yns.3_Missense_Mutation_p.F1104V|CSMD3_uc003ynt.3_Missense_Mutation_p.F1862V|CSMD3_uc011lhx.2_Missense_Mutation_p.F1798V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1902	Sushi 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACAATCAAAAAGAACCGAT	0.418000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				102			22		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52863976	52863976	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52863976G>A	uc001vgm.1	-	1		c.182C>T								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		AATACTCGAAGAAGAACATCC	0.333000														25			5		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90856522	90856522	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90856522T>C	uc003hst.3	+	5	1762	c.1691T>C	c.(1690-1692)tTt>tCt	p.F564S	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.F306S	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	564					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTGCAAATGTTTGAAGATTTG	0.383000														87			18		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846053	47846053	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:47846053C>T	uc011dwm.2	-	2	2561	c.2527G>A	c.(2527-2529)Gtc>Atc	p.V843I	PTCHD4_uc011dwn.2_Missense_Mutation_p.V590I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	843						integral to membrane	hedgehog receptor activity										ACTGTGGTGACGTGATCCGGG	0.453000														164			41		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13419017	13419017	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13419017C>T	uc003bxv.1	-	8	1174	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	NUP210_uc003bxx.3_Missense_Mutation_p.R36H	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	364					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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCATACAGGCGGCCGGTCTC	0.567000														268			47		0	0	1	0	0
ARNTL	406	broad.mit.edu	37	11	13378325	13378325	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:13378325G>A	uc001mkr.3	+	6	587	c.179_splice	c.e6+1	p.R60_splice	ARNTL_uc001mko.3_Splice_Site_p.R17_splice|ARNTL_uc001mkp.3_Splice_Site_p.R60_splice|ARNTL_uc001mkq.3_Splice_Site_p.R60_splice|ARNTL_uc001mks.3_Splice_Site_p.R17_splice|ARNTL_uc001mkt.3_Splice_Site_p.R60_splice|ARNTL_uc009ygm.1_Splice_Site_p.R17_splice|ARNTL_uc001mkv.1_Splice_Site_p.R17_splice|ARNTL_uc001mkw.3_Splice_Site_p.R17_splice|ARNTL_uc001mkx.3_5'Flank	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	60					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CTCATGGAAGGTACCATGAAC	0.398000														53			15		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277105	135277105	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277105C>T	uc004cbl.3	-	1	1173	c.1104G>A	c.(1102-1104)ggG>ggA	p.G368G	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	368					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTTCCACAGTCCCAACCTCAC	0.483000														221			46		0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92164195	92164195	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92164195G>T	uc003uma.3	+	3	969	c.928G>T	c.(928-930)Gga>Tga	p.G310*	RBM48_uc003ulz.3_Nonsense_Mutation_p.G310*			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	310							nucleotide binding										GATTATGATTGGACCTCTGTT	0.383000														53			20		1.56452e-12	1.80666e-12	1	1	0
WFS1	7466	broad.mit.edu	37	4	6293694	6293694	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6293694C>T	uc003giy.3	+	5	848	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	WFS1_uc003gix.3_Missense_Mutation_p.R228C|WFS1_uc003giz.3_Missense_Mutation_p.R46C	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	228					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGCAGAGGCGCATGCTGGA	0.647000														27			9		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14851350	14851350	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14851350C>A	uc003zlm.3	-	6	1900	c.1084G>T	c.(1084-1086)Gat>Tat	p.D362Y	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	362					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		TCACTGAGATCTTTCCAGGTG	0.493000														79			22		4.35082e-09	4.81328e-09	1	1	0
CBS	875	broad.mit.edu	37	21	44486459	44486459	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44486459G>A	uc002zcu.2	-	4	590	c.345C>T	c.(343-345)ggC>ggT	p.G115G	CBS_uc002zcs.1_Silent_p.G10G|CBS_uc002zct.2_Silent_p.G115G|CBS_uc002zcw.3_Silent_p.G115G|CBS_uc002zcv.2_Silent_p.G115G	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	115					L-cysteine catabolic process|L-serine catabolic process|cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	p.A114V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TCACGCTCCCGCCCGCGTTGA	0.627000														160			20		0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26942089	26942089	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26942089C>T	uc002hbu.3	-	38	6804	c.6701G>A	c.(6700-6702)cGc>cAc	p.R2234H	SPAG5_uc010waq.1_5'Flank|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_5'Flank|SPAG5_uc010crq.2_5'Flank|SPAG5_uc021ttt.1_5'Flank	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	2234						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AAATCATTTGCGCCTGCCAAA	0.562000														502			92		0	0	1	0	0
KLHL30	377007	broad.mit.edu	37	2	239056536	239056536	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239056536C>T	uc002vxr.2	+	5	1319	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	404										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GCTGGACGCCCGTCAGCCCGG	0.687000														60			11		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86794362	86794362	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86794362G>T	uc003uih.3	+	2	431	c.105G>T	c.(103-105)caG>caT	p.Q35H	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Intron|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.Q35H|DMTF1_uc003uim.1_Missense_Mutation_p.Q35H|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	35	Interaction with CCND2 (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACTGCCCTCAGAATGGTAGGA	0.438000														53			17		3.99206e-14	4.68177e-14	1	1	0
TAF1B	9014	broad.mit.edu	37	2	10051681	10051681	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10051681A>G	uc002qzz.3	+	10	1275	c.1175A>G	c.(1174-1176)aAa>aGa	p.K392R	TAF1B_uc010exc.2_Missense_Mutation_p.K392R|TAF1B_uc002qzy.4_Missense_Mutation_p.K392R|TAF1B_uc010yja.2_Missense_Mutation_p.K137R|TAF1B_uc010exd.3_Missense_Mutation_p.K137R	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	392					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAAAGAACAAAAAAGGTATT	0.249000														32			4		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489598	233489598	+	Nonsense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233489598T>A	uc001hvt.4	+	2	1293	c.1032T>A	c.(1030-1032)taT>taA	p.Y344*	KIAA1804_uc001hvs.1_Nonsense_Mutation_p.Y344*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	344	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AAGTCCCCTATCGGGGCATTG	0.512000														138			28		0	0	1	0	0
FAM75C2	645961	broad.mit.edu	37	9	90749723	90749723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90749723C>T	uc011lti.2	-	0	178	c.149G>A	c.(148-150)cGt>cAt	p.R50H		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	50																	GTTGTCACAACGGAGGTAAGA	0.483000														109			13		0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924736	94924736	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94924736A>G	uc001pfk.1	-	2	396	c.174T>C	c.(172-174)cgT>cgC	p.R58R	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Silent_p.R58R	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	58					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GAAAGTTAGTACGTTCATCCA	0.383000														106			27		0	0	1	0	0
DDX26B	203522	broad.mit.edu	37	X	134711279	134711279	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:134711279C>T	uc004eyw.4	+	13	2298	c.1935C>T	c.(1933-1935)ggC>ggT	p.G645G	DDX26B_uc004eyx.4_Silent_p.G246G	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	645								p.G645G(2)		large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCATGTGGGCGGAAAGGGAC	0.488000														210			22		0	0	1	0	0
ALDH16A1	126133	broad.mit.edu	37	19	49965961	49965961	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49965961A>G	uc002pnt.3	+	7	1163	c.1047A>G	c.(1045-1047)gcA>gcG	p.A349A	ALDH16A1_uc010yar.2_Silent_p.A298A|ALDH16A1_uc010yas.2_Silent_p.A184A|ALDH16A1_uc010yat.2_Silent_p.A186A	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN	Homo sapiens aldehyde dehydrogenase 16 family, member A1 (ALDH16A1), transcript variant 1, mRNA.	349							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGGCTGCCGCATGTGACCTGG	0.697000														135			23		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818353	7818353	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7818353C>A	uc001mfp.1	-	0	137	c.137G>T	c.(136-138)aGa>aTa	p.R46I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAGAAATTCTGATAAGAAT	0.413000														70			26		3.28513e-13	3.82035e-13	1	1	0
SLC35F5	80255	broad.mit.edu	37	2	114501313	114501313	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:114501313C>A	uc002tku.1	-	5	953	c.539G>T	c.(538-540)aGc>aTc	p.S180I	SLC35F5_uc002tkt.3_Non-coding_Transcript|SLC35F5_uc002tkv.3_Missense_Mutation_p.S174I	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	180					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						AATGTTTGTGCTCTCAGGTTT	0.343000														147			34		4.3949e-29	5.5243e-29	1	1	0
LRIG2	9860	broad.mit.edu	37	1	113666508	113666508	+	Missense_Mutation	SNP	C	T	T	rs151009293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113666508C>T	uc001edf.1	+	17	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_uc009wgn.1_Missense_Mutation_p.R892W	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	995						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418000														42			9		0	0	1	0	0
MPDZ	8777	broad.mit.edu	37	9	13190142	13190142	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13190142C>A	uc010mia.1	-	14	2182	c.2125G>T	c.(2125-2127)Gga>Tga	p.G709*	MPDZ_uc010mhz.3_Nonsense_Mutation_p.G709*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.G709*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.G709*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.G709*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	709	PDZ 5.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAACCAAGTCCTTTGCTCCCT	0.413000														43			4		0.150653	0.151008	1	1	0
C12orf44	60673	broad.mit.edu	37	12	52470606	52470606	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52470606C>T	uc001rzu.4	+	3	764	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	C12orf44_uc009zmd.3_Nonsense_Mutation_p.Q97*|bpl_41-16_uc009zme.2_5'Flank	NM_021934	NP_068753	Q9BSB4	ATGA1_HUMAN	Homo sapiens chromosome 12 open reading frame 44 (C12orf44), transcript variant 1, mRNA.	97					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		TGGGCTGGGGCAGATGTCCTT	0.572000														103			29		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123554207	123554207	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:123554207G>T	uc010nqy.3	-	24	5000	c.4936C>A	c.(4936-4938)Ctt>Att	p.L1646I	ODZ1_uc011muj.2_Missense_Mutation_p.L1645I|ODZ1_uc004euj.3_Missense_Mutation_p.L1639I	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1639					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GTAGCCAGAAGCCCTGTGTTT	0.398000														147			36		1.07637e-12	1.24666e-12	1	1	0
OR10J3	441911	broad.mit.edu	37	1	159283537	159283537	+	Missense_Mutation	SNP	G	A	A	rs144550384	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283537G>A	uc010piu.2	-	0	913	c.913C>T	c.(913-915)Cgt>Tgt	p.R305C		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGCCCCACGGCTCTGTGCA	0.428000														156			32		0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60921756	60921756	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60921756T>C	uc001xez.4	-	15	1576	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G	C14orf39_uc010apo.3_Missense_Mutation_p.D200G	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	489										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACAGAAGAATCAAATAAATT	0.308000														62			11		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307548	47307548	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307548G>A	uc004dhs.4	-	3	1814	c.1747C>T	c.(1747-1749)Cac>Tac	p.H583Y	ZNF41_uc004dhu.4_Missense_Mutation_p.H575Y|ZNF41_uc004dht.4_Missense_Mutation_p.H455Y|ZNF41_uc004dhv.4_Missense_Mutation_p.H551Y|ZNF41_uc004dhw.4_Missense_Mutation_p.H543Y|ZNF41_uc004dhy.4_Missense_Mutation_p.H541Y|ZNF41_uc004dhx.4_Missense_Mutation_p.H541Y|ZNF41_uc011mlm.2_Missense_Mutation_p.H455Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	583						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GTTTTCTGGTGTTTAATGAGA	0.413000														88			20		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24566204	24566204	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24566204C>T	uc001wlt.3	+	1	265	c.133C>T	c.(133-135)Cga>Tga	p.R45*	NRL_uc001wlp.3_5'Flank|NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Nonsense_Mutation_p.R45*|PCK2_uc010tnw.2_Intron|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	45					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CACTGGCATTCGAGATTTTGT	0.577000														161			41		0	0	1	0	0
VKORC1	79001	broad.mit.edu	37	16	31104708	31104708	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31104708G>T	uc002eas.3	-	1	434	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	PRSS53_uc002ear.3_5'UTR|VKORC1_uc002eat.3_Intron|VKORC1_uc002eau.3_Missense_Mutation_p.L70M	NM_024006	NP_076869	Q9BQB6	VKOR1_HUMAN	Homo sapiens vitamin K epoxide reductase complex, subunit 1 (VKORC1), transcript variant 1, mRNA.	70					peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane	vitamin-K-epoxide reductase (warfarin-sensitive) activity			lung(3)|urinary_tract(1)	4					Acenocoumarol(DB01418)|Dicumarol(DB00266)|Menadione(DB00170)|Phenindione(DB00498)|Phenprocoumon(DB00946)|Warfarin(DB00682)	TCCTGTCCCAGCACATGCTCC	0.592000														114			27		2.47511e-08	2.70952e-08	1	1	0
HERC2	8924	broad.mit.edu	37	15	28510973	28510973	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28510973C>T	uc001zbj.3	-	12	1852	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	HERC2_uc001zbl.1_Silent_p.R277R	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	582					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGGCCCAGCCGGCCGTAGT	0.627000														134			21		0	0	1	0	0
AP3M2	10947	broad.mit.edu	37	8	42024803	42024803	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:42024803A>G	uc003xop.3	+	7	1216	c.925A>G	c.(925-927)Act>Gct	p.T309A	AP3M2_uc003xoo.3_Missense_Mutation_p.T309A|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	309	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TGAGGGAGTGACTGTCACCAG	0.527000														106			26		0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57994625	57994625	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57994625G>T	uc001sou.3	+	7	976	c.845G>T	c.(844-846)aGc>aTc	p.S282I	PIP4K2C_uc001sot.3_Missense_Mutation_p.S282I|PIP4K2C_uc010srs.2_Missense_Mutation_p.S264I|PIP4K2C_uc010srt.2_Missense_Mutation_p.S234I	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	282	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ATGGACTACAGCCTTCTGCTA	0.552000														447			97		9.82936e-54	1.25512e-53	1	1	0
CCRL2	9034	broad.mit.edu	37	3	46449860	46449860	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46449860C>A	uc010hjg.3	+	1	439	c.326C>A	c.(325-327)gCt>gAt	p.A109D	CCRL2_uc003cpp.4_Missense_Mutation_p.A97D|CCRL2_uc010hjf.3_Missense_Mutation_p.A97D|CCRL2_uc021wxc.1_Missense_Mutation_p.A97D	NM_001130910	NP_003956	O00421	CCRL2_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 2 (CCRL2), transcript variant 2, mRNA.	97					chemotaxis|inflammatory response	integral to plasma membrane	CCR chemokine receptor binding|chemokine receptor activity			lung(3)|ovary(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)		TGGGCTCATGCTGGGGGCGAT	0.433000														115			23		2.89027e-11	3.28353e-11	1	1	0
DNAJC1	64215	broad.mit.edu	37	10	22048251	22048251	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22048251C>T	uc001irc.3	-	10	1731	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K		NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	482					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	p.E482D(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGGCTCTCCTCGTCGCTGGAC	0.562000														197			50		0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381177	147381177	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:147381177C>T	uc021ovm.1	+	0	1095	c.1095C>T	c.(1093-1095)gcC>gcT	p.A365A	GJA8_uc001epu.2_Silent_p.A365A	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	365					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.A365A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGAAGGTGGCCGTGCCAGAGG	0.627000														43			5		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109734376	109734376	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109734376C>A	uc004bcz.3	+	7	6807	c.6518C>A	c.(6517-6519)cCt>cAt	p.P2173H	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.P2082H|ZNF462_uc004bda.3_Missense_Mutation_p.P2081H|ZNF462_uc011lvz.2_Missense_Mutation_p.P130H|ZNF462_uc004bdb.1_Missense_Mutation_p.P81H	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	2173					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CGTGTTAGCCCTGTGCCTCTT	0.532000														124			16		3.45872e-05	3.61362e-05	1	1	0
RBM47	54502	broad.mit.edu	37	4	40440380	40440380	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440380G>A	uc003gvc.2	-	3	1241	c.531C>T	c.(529-531)ggC>ggT	p.G177G	RBM47_uc003gvd.2_Silent_p.G177G|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.G139G|RBM47_uc003gvg.1_Silent_p.G177G	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	177	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGTCCAGCACGCCCTCGGTGA	0.632000														330			14		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100266103	100266103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100266103C>T	uc002taf.3	-	11	1388	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	AFF3_uc002tag.3_Missense_Mutation_p.R390H|AFF3_uc010fiq.1_Missense_Mutation_p.R390H|AFF3_uc010yvr.1_Missense_Mutation_p.R543H|AFF3_uc002tah.1_Missense_Mutation_p.R415H	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	390	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R415C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGAGAGAGCGCGGAGAGCCGT	0.363000														136			26		0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58252923	58252923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58252923C>T	uc003djs.4	+	2	537	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W	ABHD6_uc003djt.4_Missense_Mutation_p.R43W	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	Homo sapiens abhydrolase domain containing 6 (ABHD6), mRNA.	43						integral to membrane	acylglycerol lipase activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		CAGGTACTGGCGGAGGACATT	0.493000														159			34		0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744640	70744640	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70744640G>A	uc003xyl.3	-	1	976	c.269C>T	c.(268-270)gCg>gTg	p.A90V	SLCO5A1_uc010lzb.3_Missense_Mutation_p.A90V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A90V|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A90V	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	90						integral to membrane|plasma membrane	transporter activity	p.S89L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCCGAGCCCCGCCGAAGTGGA	0.642000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		130			27		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18194223	18194223	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18194223G>A	uc002gsx.1	-	11	1629	c.1400C>T	c.(1399-1401)gCc>gTc	p.A467V	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_5'UTR|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.A365V	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	467					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGGCCATGGGCCACAAAGCG	0.522000														99			19		0	0	1	0	0
NKTR	4820	broad.mit.edu	37	3	42681067	42681067	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42681067C>T	uc003clo.3	+	12	4018	c.3871C>T	c.(3871-3873)Cca>Tca	p.P1291S	NKTR_uc003clm.1_Missense_Mutation_p.P1038S|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Missense_Mutation_p.P1038S|NKTR_uc003clq.1_Missense_Mutation_p.P1181S|NKTR_uc003clr.1_Missense_Mutation_p.P1038S|NKTR_uc003cls.3_Missense_Mutation_p.P991S	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1291					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAACCGTAGACCAAGAAATCA	0.428000														111			27		0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15686733	15686733	+	Missense_Mutation	SNP	T	C	C	rs149690919		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:15686733T>C	uc011avv.2	+	3	1464	c.1376T>C	c.(1375-1377)gTg>gCg	p.V459A	BTD_uc003cah.3_Missense_Mutation_p.V457A|BTD_uc011avw.2_Missense_Mutation_p.V459A|BTD_uc011avx.2_Missense_Mutation_p.V437A	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	457					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TACATCCAAGTGTGTGCCCTG	0.517000														176			47		0	0	1	0	0
ZNF287	57336	broad.mit.edu	37	17	16456289	16456289	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16456289G>A	uc021trd.1	-	5	1785	c.1167C>T	c.(1165-1167)acC>acT	p.T389T	ZNF287_uc002gqi.2_Silent_p.T389T	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	382					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTGGCATGGGTACTTTGGT	0.398000														186			34		0	0	1	0	0
MTMR1	8776	broad.mit.edu	37	X	149924229	149924229	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149924229C>A	uc004feh.1	+	14	1884	c.1749C>A	c.(1747-1749)ccC>ccA	p.P583P	MTMR1_uc011mya.1_Silent_p.P481P|MTMR1_uc004fei.3_Silent_p.P575P|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	575	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCTAATCCCTTCTTTGTGA	0.343000														55			15		2.61681e-11	2.97614e-11	1	1	0
ROR2	4920	broad.mit.edu	37	9	94486500	94486500	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486500G>A	uc004arj.2	-	8	2475	c.2276C>T	c.(2275-2277)gCg>gTg	p.A759V	ROR2_uc004ari.1_Missense_Mutation_p.A619V	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	759	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGAGGTCTGCGCCGAGCTGTT	0.652000														220			30		0	0	1	0	0
AP5M1	55745	broad.mit.edu	37	14	57752979	57752979	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:57752979T>G	uc001xcv.3	+	6	1759	c.1332T>G	c.(1330-1332)tgT>tgG	p.C444W	AP5M1_uc010tri.2_Missense_Mutation_p.C198W|AP5M1_uc010trj.2_Missense_Mutation_p.C341W	NM_018229	NP_060699	Q9H0R1	MUDEN_HUMAN	Homo sapiens MU-2/AP1M2 domain containing, death-inducing (MUDENG), transcript variant 1, mRNA.	444	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex											TTACTGGATGTTATGCAGATC	0.323000														120			23		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6523988	6523988	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6523988A>C	uc001mdw.4	+	3	1316	c.752A>C	c.(751-753)cAg>cCg	p.Q251P	DNHD1_uc001mdp.3_Missense_Mutation_p.Q251P	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	251					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACAGGTCTCAGCTTGACTAT	0.498000														61			16		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770107	31770107	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31770107G>A	uc002nsy.4	-	1	657	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	198					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R198R(2)|p.A197S(1)|p.R198W(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTGCTCTGCCGGTACAGCTGC	0.627000														177			50		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432488	45432488	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45432488C>T	uc001wvw.3	+	0	1073	c.864C>T	c.(862-864)ggC>ggT	p.G288G	FAM179B_uc001wvv.3_Silent_p.G288G|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Silent_p.G288G|FAM179B_uc001wvu.3_Silent_p.G288G	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	288							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						AGCGACTTGGCCAAGACAGGT	0.493000														156			32		0	0	1	0	0
MAGOHB	55110	broad.mit.edu	37	12	10762505	10762505	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10762505C>A	uc001qyq.2	-	2	266	c.189G>T	c.(187-189)aaG>aaT	p.K63N	MAGOHB_uc001qyr.2_Non-coding_Transcript	NM_018048	NP_060518	Q96A72	MGN2_HUMAN	Homo sapiens mago-nashi homolog B (Drosophila) (MAGOHB), mRNA.	63					RNA splicing|mRNA processing|mRNA transport	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CAATAATTCTCTTCAGTTCTT	0.373000														35			8		0.00621372	0.00630477	1	1	0
SETD8	387893	broad.mit.edu	37	12	123889552	123889552	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123889552C>T	uc001uew.3	+	6	821	c.779C>T	c.(778-780)gCt>gTt	p.A260V		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	301	SET.				cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AAACGGGAGGCTCTGTACGCA	0.542000														101			18		0	0	1	0	0
ZEB2	9839	broad.mit.edu	37	2	145187540	145187540	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:145187540T>C	uc002tvu.3	-	2	649	c.127A>G	c.(127-129)Aag>Gag	p.K43E	ZEB2_uc010zbm.2_Missense_Mutation_p.K43E|ZEB2_uc002tvv.3_Missense_Mutation_p.K38E|ZEB2_uc010fnp.3_Missense_Mutation_p.K38E|ZEB2_uc010fnq.1_Missense_Mutation_p.K72E|ZEB2_uc002tvw.3_Missense_Mutation_p.K38E	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	43						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGAAGCTTGTCTTCCTCA	0.488000														97			36		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953597	160953597	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160953597G>A	uc003qtl.3	-	38	6047	c.5927C>T	c.(5926-5928)gCt>gTt	p.A1976V		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4484	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATGCTCAGCACAAATATA	0.443000														93			10		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44982351	44982351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44982351G>A	uc002ozf.4	-	4	629	c.347C>T	c.(346-348)gCa>gTa	p.A116V	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Missense_Mutation_p.A89V|ZNF180_uc002ozg.4_Missense_Mutation_p.A115V|ZNF180_uc010ejm.3_Missense_Mutation_p.A91V	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	116	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TTTTCCAACTGCAGTTGCCAA	0.323000														61			19		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20620538	20620538	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20620538A>G	uc002wrz.3	-	6	700	c.557T>C	c.(556-558)aTa>aCa	p.I186T	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	186					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTGGATATATCTTTACTGA	0.343000														107			27		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732641	181732641	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181732641C>A	uc009wxt.3	+	33	4984	c.4789C>A	c.(4789-4791)Ctg>Atg	p.L1597M	CACNA1E_uc001gow.3_Missense_Mutation_p.L1597M|CACNA1E_uc009wxs.3_Missense_Mutation_p.L1578M|CACNA1E_uc001gox.1_Missense_Mutation_p.L823M	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1597					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.L1597P(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACGCATTTTGCTGTGGACCTT	0.498000														55			14		1	1	1	1	0
FRY	10129	broad.mit.edu	37	13	32745307	32745307	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32745307C>T	uc001utx.3	+	17	2547	c.2051C>T	c.(2050-2052)tCg>tTg	p.S684L	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCCTTGATTCGTCCCTGAAG	0.438000														91			14		0	0	1	0	0
INTS10	55174	broad.mit.edu	37	8	19675132	19675132	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19675132G>A	uc022asn.1	+	0	215	c.84G>A	c.(82-84)tgG>tgA	p.W28*	INTS10_uc003wzj.3_Nonsense_Mutation_p.W28*	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	28					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CCAAGGCGTGGCTGATCACGG	0.682000														25			4		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33149272	33149272	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33149272G>T	uc001zhf.4	-	12	3203	c.3203C>A	c.(3202-3204)tCc>tAc	p.S1068Y		NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	1291	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTCCTTTGGGGACTCCTTGCA	0.468000														132			11		0.0692343	0.0695478	1	1	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42135893	42135893	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42135893C>T	uc001zoo.4	+	15	1496	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	JMJD7-PLA2G4B_uc010bcn.3_Nonsense_Mutation_p.R486*|JMJD7-PLA2G4B_uc001zoq.4_5'UTR|JMJD7-PLA2G4B_uc010bco.3_Nonsense_Mutation_p.R255*|JMJD7-PLA2G4B_uc001zor.1_5'UTR	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	255	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GCTGGCCGTGCGACTGGGCTT	0.642000														129			27		0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060769	111060769	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111060769G>A	uc001dzt.1	-	0	1029	c.641C>T	c.(640-642)gCt>gTt	p.A214V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGCACGGGCAGCGCTGGAACT	0.552000														88			35		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1262147	1262147	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1262147G>T	uc001lta.3	+	30	4096	c.4037G>T	c.(4036-4038)gGg>gTg	p.G1346V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1346	7 X Cys-rich subdomain repeats.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGGTACAATGGGCACCGCCCA	0.652000														108			9		0.000442599	0.000455268	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118458251	118458251	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118458251C>A	uc001lct.3	-	5	547	c.442_splice	c.e5-1	p.D148_splice	HSPA12A_uc001lcu.3_Splice_Site_p.D65_splice	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	148							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGGTGAGGTCCTGGTAGGAGG	0.507000														161			45		1.41504e-22	1.74518e-22	1	1	0
HSPD1	3329	broad.mit.edu	37	2	198363569	198363569	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198363569G>A	uc002uui.3	-	1	141	c.4C>T	c.(4-6)Ctt>Ttt	p.L2F	HSPD1_uc010zgx.2_Missense_Mutation_p.L2F|HSPD1_uc010fsm.3_5'UTR|HSPD1_uc002uuk.3_Missense_Mutation_p.L2F|HSPD1_uc010zgy.1_Missense_Mutation_p.L2F|HSPE1-MOB4_uc002uul.3_5'Flank|HSPE1-MOB4_uc021vum.1_5'Flank	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	2					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GGTAACCGAAGCATTTCTGGG	0.512000														57			11		0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890321	55890321	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55890321T>C	uc001nii.1	+	0	473	c.473T>C	c.(472-474)gTc>gCc	p.V158A		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GACTCCTTTGTCAATGTGGTT	0.448000														264			23		0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48164483	48164483	+	Missense_Mutation	SNP	C	T	T	rs144185728		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48164483C>T	uc002xut.3	-	2	326	c.272G>A	c.(271-273)cGc>cAc	p.R91H	PTGIS_uc010zyi.2_Intron	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	91					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GAGCCTGGTGCGAGGCTCCCA	0.557000														221			45		0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72608191	72608191	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72608191G>A	uc002aui.2	-	1	1168	c.707C>T	c.(706-708)gCc>gTc	p.A236V	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc002auh.2_Missense_Mutation_p.P114S|CELF6_uc010ukm.1_Missense_Mutation_p.P114S|CELF6_uc002auj.2_5'UTR	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	130					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CTTACCCCTGGCAGGGTCTTC	0.637000														21			7		0	0	1	0	0
ZNF81	347344	broad.mit.edu	37	X	47775190	47775190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47775190G>A	uc022bvq.1	+	4	1394	c.1145G>A	c.(1144-1146)gGa>gAa	p.G382E	ZNF81_uc010nhy.2_Missense_Mutation_p.G382E	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	382						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCATACTGGAGAAAAACTC	0.398000														70			27		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122646797	122646797	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122646797G>T	uc003efz.1	-	7	994	c.690C>A	c.(688-690)ccC>ccA	p.P230P	SEMA5B_uc011bju.1_Silent_p.P172P|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.P230P|SEMA5B_uc010hro.1_Silent_p.P172P|SEMA5B_uc010hrp.1_Non-coding_Transcript	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	230	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C229C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTGGGTCATAGGGGCAGCGGG	0.612000														150			37		2.87052e-16	3.42015e-16	1	1	0
ARID1B	57492	broad.mit.edu	37	6	157525014	157525014	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157525014T>C	uc003qqp.3	+	17	4870	c.4870T>C	c.(4870-4872)Tgg>Cgg	p.W1624R	ARID1B_uc003qqo.3_Missense_Mutation_p.W1637R|ARID1B_uc003qqn.3_Missense_Mutation_p.W1677R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1624					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCTGAGGCGTGGCGTGTGAT	0.403000														562			128		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41186182	41186182	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41186182A>C	uc003jmk.2	-	5	926	c.716T>G	c.(715-717)gTc>gGc	p.V239G	C6_uc003jml.1_Missense_Mutation_p.V239G	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	239	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCAAAGCCGACATTTTCCAG	0.423000														78			19		0	0	1	0	0
FAM113B	91523	broad.mit.edu	37	12	47629701	47629701	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47629701C>T	uc001rpq.3	+	1	1380	c.855C>T	c.(853-855)caC>caT	p.H285H	FAM113B_uc001rpn.3_Silent_p.H285H|FAM113B_uc021qxi.1_Silent_p.H285H	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	285	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					ACAGAAATCAcccggccttac	0.667000														71			16		0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39482486	39482486	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39482486G>A	uc021wpr.1	+	5	1231	c.938G>A	c.(937-939)cGc>cAc	p.R313H	APOBEC3F_uc003awx.3_Missense_Mutation_p.R313H|APOBEC3F_uc003awy.3_Missense_Mutation_p.R246H	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	313					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					TTCACTGCCCGCATCTATGAT	0.512000														320			69		0	0	1	0	0
SDF4	51150	broad.mit.edu	37	1	1154014	1154014	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1154014C>T	uc001adh.4	-	6	1066	c.737_splice	c.e6-1	p.D246_splice	SDF4_uc001adg.3_Splice_Site|SDF4_uc001adi.4_Splice_Site_p.D246_splice|SDF4_uc009vjw.3_Splice_Site	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	246	EF-hand 4.				UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		CCGTCCTGGTCTGCGAGACGG	0.677000														169			22		0	0	1	0	0
TSSK6	83983	broad.mit.edu	37	19	19626064	19626064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19626064G>A	uc002nmr.3	-	0	406	c.173C>T	c.(172-174)cCg>cTg	p.P58L	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	58	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CAGCTCTCGCGGCAGGAACTT	0.602000														149			33		0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778460	56778460	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:56778460G>A	uc003jrm.3	-	0	177	c.75C>T	c.(73-75)gaC>gaT	p.D25D		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	25						cytoplasm|cytoskeleton	ATP binding	p.D25D(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GGGGGGCATCGTCACCACCAA	0.582000														77			10		0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30436230	30436230	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30436230C>T	uc002wwu.1	-	9	942	c.865G>A	c.(865-867)Gct>Act	p.A289T	FOXS1_uc002wwt.1_5'Flank			Q9H1R2	DUS15_HUMAN	Homo sapiens dual specificity phosphatase 15 (DUSP15), transcript variant 1, mRNA.	289						cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGAGGAAGCGGCTCGCTTA	0.622000														101			17		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127872100	127872100	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127872100A>G	uc003kuu.3	-	1	771	c.332T>C	c.(331-333)aTt>aCt	p.I111T	FBN2_uc003kuv.2_Missense_Mutation_p.I111T|FBN2_uc003kuw.4_Missense_Mutation_p.I111T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	111	EGF-like 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTCACGGACAATGCACTGGTT	0.612000														47			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593619	179593619	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179593619T>G	uc021vsy.1	-	62	15640	c.15415_splice	c.e62+1	p.E5139_splice	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Splice_Site_p.E1800_splice	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6066	Ig-like 32.						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)			CTTACAAACCTTGTACTAAAA	0.378000														41			16		0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43634902	43634902	+	Silent	SNP	G	A	A	rs140715405	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43634902G>A	uc003bdt.2	-	6	913	c.786C>T	c.(784-786)ggC>ggT	p.G262G	SCUBE1_uc003bdu.2_Silent_p.G292G	NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	262	EGF-like 5 (Potential).|EGF-like 6 (Potential).				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				TGCATCGCACGCCAGTGGCTG	0.602000														101			27		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62696619	62696619	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62696619A>G	uc001src.2	+	2	341	c.266A>G	c.(265-267)tAc>tGc	p.Y89C	USP15_uc001srb.2_Missense_Mutation_p.Y89C|USP15_uc010ssj.2_Missense_Mutation_p.Y89C|USP15_uc010ssk.2_Missense_Mutation_p.Y89C|USP15_uc001sra.3_Missense_Mutation_p.Y89C	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	89	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAATTGGATTACATACTGTTG	0.363000														90			17		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46430125	46430125	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46430125G>A	uc001ncv.2	-	18	3664	c.3350C>T	c.(3349-3351)gCc>gTc	p.A1117V	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Missense_Mutation_p.A1085V|AMBRA1_uc001ncu.1_Missense_Mutation_p.A1024V|AMBRA1_uc010rgu.1_Missense_Mutation_p.A1114V|AMBRA1_uc001ncw.2_Missense_Mutation_p.A995V|AMBRA1_uc001ncx.2_Missense_Mutation_p.A1054V	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1114					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTGTGTTTCGGCATTCTGCAG	0.632000														104			27		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151818234	151818234	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151818234T>G	uc004ffp.1	+	5	660	c.640T>G	c.(640-642)Ttc>Gtc	p.F214V		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	214						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CATCATATTATTCTGGGATGA	0.433000														114			19		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092185	1092185	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1092185A>G	uc001lsx.1	+	29	4031	c.4004A>G	c.(4003-4005)gAc>gGc	p.D1335G		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1335						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCCCCTGAGGACATCGAGTGC	0.572000														49			13		0	0	1	0	0
ZNF219	51222	broad.mit.edu	37	14	21561402	21561402	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21561402C>T	uc001vzr.2	-	2	475	c.54G>A	c.(52-54)ccG>ccA	p.P18P	ZNF219_uc001vzs.2_Silent_p.P18P|ZNF219_uc010aik.1_Silent_p.P18P	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	Homo sapiens zinc finger protein 219 (ZNF219), transcript variant 1, mRNA.	18					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		CGTCGAAAGCCGGCGGCGACG	0.647000											OREG0022565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			17		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717685	2717685	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717685G>A	uc002lwf.3	-	1	278	c.120C>T	c.(118-120)atC>atT	p.I40I	DIRAS1_uc021umt.1_Silent_p.I40I	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	40					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTGTCCTCGATGGTGGGGA	0.657000														160			41		0	0	1	0	0
CRELD1	78987	broad.mit.edu	37	3	9982689	9982689	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9982689G>A	uc003buf.3	+	5	715	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.A206T|CRELD1_uc003bug.3_Missense_Mutation_p.A206T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	206					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGAACGCAACGCCAGCCATCT	0.642000														165			48		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56494123	56494123	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56494123T>G	uc003pcy.4	-	17	2897	c.2789A>C	c.(2788-2790)gAt>gCt	p.D930A	DST_uc021zay.1_Missense_Mutation_p.D1296A|DST_uc021zax.1_Missense_Mutation_p.D930A|DST_uc003pdc.4_Missense_Mutation_p.D930A|DST_uc003pdd.4_Missense_Mutation_p.D930A	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	1256	SH3.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCAGTCAAAATCAAGGTCCCG	0.373000														130			24		0	0	1	0	0
FUT2	2524	broad.mit.edu	37	19	49206490	49206490	+	Missense_Mutation	SNP	G	A	A	rs112722916		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49206490G>A	uc002pke.4	+	1	388	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	FUT2_uc010emc.3_Missense_Mutation_p.A93T|FUT2_uc021uwx.1_Missense_Mutation_p.A93T	NM_001097638	NP_001091107	Q10981	FUT2_HUMAN	Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA.	93					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGGGCGGCCCGCCTTCATCCC	0.652000														113			19		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34663663	34663663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34663663C>T	uc002nvb.4	+	0	312	c.116C>T	c.(115-117)gCc>gTc	p.A39V	LSM14A_uc002nva.4_Missense_Mutation_p.A39V|LSM14A_uc010xru.2_Missense_Mutation_p.A39V	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	39					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTAGCCCTTGCCAAAGGTACG	0.687000														49			9		0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109686536	109686536	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:109686536C>T	uc004bcz.3	+	2	632	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_5'UTR|ZNF462_uc004bda.3_5'UTR	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	115					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R115S(2)		NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GTTCTGTGTACGCTACTTCAG	0.473000														82			16		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75688057	75688057	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75688057C>A	uc010oqz.1	-	12	1257	c.1191G>T	c.(1189-1191)aaG>aaT	p.K397N	SLC44A5_uc001dgt.2_Missense_Mutation_p.K358N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K316N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K316N|SLC44A5_uc001dgu.3_Missense_Mutation_p.K358N|SLC44A5_uc010ora.2_Missense_Mutation_p.K352N|SLC44A5_uc010orb.2_Missense_Mutation_p.K228N	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	358						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.A396V(1)|p.A396A(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGCTTCCTTCCTTCAGCAGGA	0.413000														59			13		6.31663e-08	6.86475e-08	1	1	0
PARP6	56965	broad.mit.edu	37	15	72546819	72546819	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72546819T>G	uc002auc.3	-	13	1627	c.1168A>C	c.(1168-1170)Atg>Ctg	p.M390L	PARP6_uc002aua.3_Missense_Mutation_p.M235L|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.M390L	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	390							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CGAATAGACATCACACTATCC	0.443000														67			8		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39262336	39262336	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39262336G>T	uc001uwv.3	+	0	1164	c.855G>T	c.(853-855)gaG>gaT	p.E285D		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	285					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGGTGGTGGAGCTGCGTTCAC	0.607000														160			31		1.06801e-11	1.22009e-11	1	1	0
SLC39A9	55334	broad.mit.edu	37	14	69922559	69922559	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69922559G>T	uc001xle.3	+	5	1371	c.669G>T	c.(667-669)atG>atT	p.M223I	SLC39A9_uc021rvg.1_Missense_Mutation_p.M105I|SLC39A9_uc021rvh.1_Missense_Mutation_p.M105I|SLC39A9_uc001xlf.4_Missense_Mutation_p.M223I|SLC39A9_uc010aqx.3_Missense_Mutation_p.M200I|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	223					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TTATGTCCATGGTGACATACT	0.413000														141			29		7.01153e-11	7.92827e-11	1	1	0
KCTD18	130535	broad.mit.edu	37	2	201355283	201355283	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201355283T>G	uc002uvs.3	-	6	1338	c.821A>C	c.(820-822)aAg>aCg	p.K274T	KCTD18_uc002uvt.3_Missense_Mutation_p.K274T	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	274						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TCTAACTGGCTTAGGACCAGT	0.463000														110			42		0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114462446	114462446	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114462446C>A	uc003kqs.3	-	9	2450	c.1941G>T	c.(1939-1941)aaG>aaT	p.K647N	TRIM36_uc011cwc.2_Missense_Mutation_p.K635N|TRIM36_uc003kqt.3_Missense_Mutation_p.K492N	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	647	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		AAGTAGGTGACTTGGGTATAA	0.383000														83			15		3.27435e-08	3.57295e-08	1	1	0
ZNF598	90850	broad.mit.edu	37	16	2048484	2048484	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2048484C>T	uc002cof.1	-	13	2479	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_Missense_Mutation_p.A186T	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	Homo sapiens zinc finger protein 598 (ZNF598), mRNA.	822						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						TGCTGCTTGGCCGTGTCGGGC	0.582000														124			38		0	0	1	0	0
ZNF648	127665	broad.mit.edu	37	1	182026331	182026331	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182026331C>T	uc001goz.3	-	1	1023	c.815G>A	c.(814-816)cGc>cAc	p.R272H	ZNF648_uc021pfu.1_Missense_Mutation_p.R272H	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGCGCCGCCGCGCGTCTCCGC	0.751000														39			8		0	0	1	0	0
TMCC3	57458	broad.mit.edu	37	12	94976014	94976014	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:94976014C>T	uc001tdj.2	-	1	497	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	TMCC3_uc001tdi.2_Missense_Mutation_p.A96T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	127						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						TGCAGCTGGGCGATGGAGTGA	0.483000														131			23		0	0	1	0	0
FAM101A	144347	broad.mit.edu	37	12	124798899	124798899	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124798899G>A	uc021rfy.1	+	4	742	c.236G>A	c.(235-237)cGc>cAc	p.R79H	FAM101A_uc001ugd.2_Missense_Mutation_p.R79H|FAM101A_uc001uge.2_Missense_Mutation_p.R79H	NM_001204299	NP_001191228	Q6ZTI6	F101A_HUMAN	Homo sapiens protein FAM101A (ZNF664-FAM101A), mRNA.	160								p.P78P(1)		endometrium(1)|kidney(1)|lung(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;2.38e-05)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-05)|all cancers(50;0.000361)|BRCA - Breast invasive adenocarcinoma(302;0.059)		CCACGCCCGCGCGCCCTGCGC	0.692000														279			72		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52620542	52620542	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52620542G>A	uc003des.2	-	19	3298	c.3286C>T	c.(3286-3288)Cgc>Tgc	p.R1096C	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1096C|PBRM1_uc003der.2_Missense_Mutation_p.R1064C|PBRM1_uc003det.2_Missense_Mutation_p.R1111C|PBRM1_uc003deu.2_Missense_Mutation_p.R1111C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1096C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1071C|PBRM1_uc003dey.2_Missense_Mutation_p.R1071C|PBRM1_uc003dez.1_Missense_Mutation_p.R1095C|PBRM1_uc003dfb.1_Missense_Mutation_p.R1008C|PBRM1_uc003dfa.1_Missense_Mutation_p.R442C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1096					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAGGCCACGCGAACCACAGGC	0.438000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									179			46		0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71098868	71098868	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71098868C>T	uc004agr.3	+	8	1612	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	461					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CCTTCATTGGCCAGCAGTTTG	0.517000														144			29		0	0	1	0	0
MIS18A	54069	broad.mit.edu	37	21	33642777	33642777	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33642777C>T	uc002ypi.3	-	2	516	c.465G>A	c.(463-465)acG>acA	p.T155T		NM_018944	NP_061817	Q9NYP9	MS18A_HUMAN	Homo sapiens MIS18 kinetochore protein homolog A (S. pombe) (MIS18A), mRNA.	155					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						GATTCTTGGGCGTGCATCTGT	0.428000														84			11		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79438601	79438601	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79438601G>T	uc010mpk.3	-	5	827	c.703C>A	c.(703-705)Ctg>Atg	p.L235M	PRUNE2_uc022bih.1_Missense_Mutation_p.L57M|PRUNE2_uc004akn.3_Missense_Mutation_p.L235M	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	235					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCATCTGACAGCTCCTTTAGA	0.348000														102			30		3.65163e-15	4.31534e-15	1	1	0
GRM6	2916	broad.mit.edu	37	5	178413731	178413731	+	Silent	SNP	G	A	A	rs150342590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178413731G>A	uc003mjr.3	-	7	1703	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	GRM6_uc003mjq.3_5'Flank|GRM6_uc010jla.1_Silent_p.G91G|GRM6_uc003mjs.1_Silent_p.G128G	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	508					detection of visible light|visual perception	integral to plasma membrane		p.G508G(2)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CGTGGGGGTCGCCAGACCACT	0.697000														140			14		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131561384	131561384	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131561384C>T	uc010tbm.2	+	14	2167	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	GPR133_uc001uit.4_Silent_p.N504N|GPR133_uc009zyo.3_5'UTR|GPR133_uc001uiv.1_Silent_p.N23N	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	504	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		ACAGCAGCAACCGAGTCTTCG	0.582000														168			28		0	0	1	0	0
CYR61	3491	broad.mit.edu	37	1	86047131	86047131	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86047131C>T	uc001dle.3	+	1	371	c.147C>T	c.(145-147)ggC>ggT	p.G49G	CYR61_uc021opf.1_5'Flank	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	49	IGFBP N-terminal.				cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of ERK1 and ERK2 cascade|regulation of cell growth|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TCCGGGACGGCTGCGGCTGCT	0.687000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			6		0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568999	5568999	+	Silent	SNP	G	T	T	rs142116324	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5568999G>T	uc003sot.4	-	2	240	c.156C>A	c.(154-156)tcC>tcA	p.S52S	ACTB_uc003sor.4_5'UTR|ACTB_uc003soq.4_5'UTR	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	52					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	p.S52F(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGCCCACATAGGAATCCTTCT	0.612000														235			35		8.4185e-14	9.84907e-14	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137630615	137630615	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137630615C>T	uc004cfe.3	+	10	1837	c.1455C>T	c.(1453-1455)acC>acT	p.T485T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	485	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTCCAGGAACCATGGGTCCCA	0.557000														181			12		0	0	1	0	0
ZNF526	116115	broad.mit.edu	37	19	42729326	42729326	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42729326C>T	uc002osz.1	+	2	927	c.771C>T	c.(769-771)gtC>gtT	p.V257V	ZNF526_uc021uvc.1_Silent_p.V257V	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGGCAGAGGTCGGTGATGATG	0.612000														90			14		0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647026	30647026	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30647026C>A	uc003nra.3	-	2	1983	c.1752G>T	c.(1750-1752)gaG>gaT	p.E584D	PPP1R18_uc003nrb.4_Missense_Mutation_p.E584D	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	584						cytoplasm|cytoskeleton	actin binding										CTTCCTCATCCTCTTCGTCGT	0.682000														127			9		0.000274275	0.000282808	1	1	0
GAPDHS	26330	broad.mit.edu	37	19	36029283	36029283	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36029283C>A	uc002oaf.1	+	2	436	c.320C>A	c.(319-321)cCa>cAa	p.P107Q		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	107					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	GTGAATGATCCATTCATTGAC	0.582000														43			9		0.000673444	0.000690401	1	1	0
LHX1	3975	broad.mit.edu	37	17	35297966	35297966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35297966G>A	uc002hnh.2	+	2	1180	c.457G>A	c.(457-459)Gcc>Acc	p.A153T	LHX1_uc010cux.1_Missense_Mutation_p.A61T	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	153					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCAGGACGACGCCAAGGACTC	0.652000														130			29		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10395085	10395085	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10395085C>T	uc002mnq.2	+	4	1251	c.932C>T	c.(931-933)cCg>cTg	p.P311L	ICAM1_uc010xle.1_Missense_Mutation_p.P89L|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	311					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	p.P311L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CCAGGCTTTCCGGCGCCCAAC	0.612000														169			39		0	0	1	0	0
CELA1	1990	broad.mit.edu	37	12	51736376	51736376	+	Silent	SNP	G	A	A	rs141068541	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51736376G>A	uc001ryi.1	-	3	350	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577000														220			44		0	0	1	0	0
MTRF1L	54516	broad.mit.edu	37	6	153315696	153315696	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153315696G>A	uc003qpi.4	-	3	744	c.639C>T	c.(637-639)cgC>cgT	p.R213R	MTRF1L_uc003qpl.4_Silent_p.R213R|MTRF1L_uc011efa.2_Silent_p.R177R|MTRF1L_uc003qpk.4_Silent_p.R177R|MTRF1L_uc003qpj.4_Silent_p.R71R	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN	Homo sapiens mitochondrial translational release factor 1-like (MTRF1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213						mitochondrion	translation release factor activity, codon specific			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		TAGTATGGACGCGGCCTTGCT	0.507000														140			32		0	0	1	0	0
CREB3L3	84699	broad.mit.edu	37	19	4153764	4153764	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4153764C>T	uc002lzl.3	+	0	136	c.20C>T	c.(19-21)gCt>gTt	p.A7V	CREB3L3_uc002lzm.3_5'UTR|CREB3L3_uc010xib.2_5'UTR|CREB3L3_uc010xic.2_5'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	7					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GATTTAGCTGCTGGAAAGGTG	0.612000														64			11		0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74719130	74719130	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74719130G>T	uc002slt.2	+	9	900	c.877_splice	c.e9-1	p.A293_splice	TTC31_uc002sls.2_3'UTR|TTC31_uc002slu.2_Splice_Site_p.A147_splice	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	293							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						CCTATCCCCAGGCATCTCCGG	0.542000														118			28		6.07407e-21	7.43637e-21	1	1	0
ZNF559	84527	broad.mit.edu	37	19	9452958	9452958	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9452958C>T	uc002mle.4	+	5	1430	c.1023C>T	c.(1021-1023)gcC>gcT	p.A341A	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Silent_p.A235A|ZNF559_uc010xkn.2_Silent_p.A269A|ZNF559_uc021uok.1_Silent_p.A277A|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGGCAAAGCCTTTGCTTTTT	0.348000														121			20		0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25264557	25264557	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25264557G>T	uc010aaa.3	+	5	961	c.628G>T	c.(628-630)Gga>Tga	p.G210*	ATP12A_uc001upp.3_Nonsense_Mutation_p.G210*	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	210					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GGAGGTCAAAGGAGGAGACCA	0.552000														177			29		1.12875e-08	1.24115e-08	1	1	0
FBXO48	554251	broad.mit.edu	37	2	68691350	68691350	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68691350C>T	uc002seo.3	-	3	867	c.459G>A	c.(457-459)ctG>ctA	p.L153L		NM_001024680	NP_001019851	Q5FWF7	FBX48_HUMAN	Homo sapiens F-box protein 48 (FBXO48), mRNA.	153										endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTTATCTTTCCAGTTCTGCTT	0.368000														248			22		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158223401	158223401	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158223401G>A	uc010jip.3	-	8	1163	c.861C>T	c.(859-861)ttC>ttT	p.F287F	EBF1_uc011ddw.2_Silent_p.F155F|EBF1_uc011ddx.2_Silent_p.F288F|EBF1_uc003lxl.4_Silent_p.F256F	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	287	IPT/TIG.				multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCCATCAAAGAAATTGTCCC	0.453000			T	HMGA2	lipoma									86			22		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223918	40223918	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40223918C>A	uc010skm.2	-	6	1483	c.1432G>T	c.(1432-1434)Gca>Tca	p.A478S	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.A125S	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	478						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				CCCCAGGCTGCCTCATTTGTA	0.378000										HNSCC(50;0.14)				79			15		1.49906e-05	1.573e-05	1	1	0
ABHD8	79575	broad.mit.edu	37	19	17405187	17405187	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17405187G>A	uc002ngb.4	-	3	1299	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	353							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						CGGCGTGGTAGACCTCGTCGC	0.617000														203			61		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127834117	127834117	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127834117T>G	uc003qbd.3	-	3	2269	c.1404A>C	c.(1402-1404)gaA>gaC	p.E468D		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	468						integral to membrane											GTTTCTCATTTTCATCTTCTG	0.338000														22			5		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81298250	81298250	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81298250T>G	uc002fgn.1	+	4	695	c.477T>G	c.(475-477)gaT>gaG	p.D159E	BCMO1_uc010vnp.1_Missense_Mutation_p.D90E	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	159					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						TGCAGGTTGATTATCGTAAAT	0.398000														106			41		0	0	1	0	0
ASGR2	433	broad.mit.edu	37	17	7012170	7012170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7012170G>A	uc002gep.3	-	2	429	c.162C>T	c.(160-162)tgC>tgT	p.C54C	ASGR2_uc002gen.1_Silent_p.C35C|ASGR2_uc002geo.2_Silent_p.C54C|ASGR2_uc002geq.3_Silent_p.C35C|ASGR2_uc002ger.3_Silent_p.C54C|ASGR2_uc010clw.2_Silent_p.C35C|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	54					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGACCATGGAGCAGAGACGCT	0.647000														33			9		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44253909	44253909	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44253909C>T	uc001mya.3	+	10	1824	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	EXT2_uc010rfo.2_Missense_Mutation_p.R585W|EXT2_uc009ykt.3_Missense_Mutation_p.R567W|EXT2_uc001mxz.3_Missense_Mutation_p.R557W	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	557					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TTAGGTCTGGCGGGAATTTCC	0.473000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					89			16		0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29709921	29709921	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29709921G>T	uc021qwi.1	-	9	1604	c.1545C>A	c.(1543-1545)cgC>cgA	p.R515R	TMTC1_uc001riz.3_Silent_p.R164R|TMTC1_uc001rja.3_Silent_p.R251R|TMTC1_uc001rjb.3_Silent_p.R407R|TMTC1_uc001rjc.1_Silent_p.R469R	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	515						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CACTTGCATGGCGTGGATACA	0.453000														81			13		2.31682e-05	2.42268e-05	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26462912	26462912	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26462912A>G	uc001isn.2	+	29	4079	c.3719A>G	c.(3718-3720)tAc>tGc	p.Y1240C	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1240					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCCAGAGTTACTATCAGAGG	0.463000														77			16		0	0	1	0	0
AQP12B	653437	broad.mit.edu	37	2	241622183	241622183	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241622183G>T	uc010fzj.3	-	0	135	c.72C>A	c.(70-72)gcC>gcA	p.A24A	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	24						integral to membrane	transporter activity	p.A24A(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGGCCTTGGAGGCCCGCCTGG	0.672000														199			9		0.000274275	0.000282808	1	1	0
KCNIP4	80333	broad.mit.edu	37	4	20751322	20751322	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20751322G>A	uc021xmt.1	-	4	512	c.392C>T	c.(391-393)gCa>gTa	p.A131V	KCNIP4_uc003gqe.2_Missense_Mutation_p.A114V|KCNIP4_uc003gqf.1_Missense_Mutation_p.A110V|KCNIP4_uc003gqg.1_Missense_Mutation_p.A69V|KCNIP4_uc003gqh.1_Missense_Mutation_p.A106V|KCNIP4_uc003gqi.1_Missense_Mutation_p.A69V|KCNIP4_uc021xmu.1_Missense_Mutation_p.A97V|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.A94V	NM_025221	NP_671711	Q6PIL6	KCIP4_HUMAN	Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.	131	EF-hand 2.					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TGTATCAAATGCATTGAACAG	0.353000														34			14		0	0	1	0	0
ZNF430	80264	broad.mit.edu	37	19	21239790	21239790	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21239790A>G	uc002npj.3	+	4	857	c.676A>G	c.(676-678)Att>Gtt	p.I226V	ZNF430_uc002npk.3_Missense_Mutation_p.I225V	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ACATAAAAGAATTCATATTAG	0.318000														49			6		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73803472	73803472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73803472T>C	uc001ouu.2	-	18	3733	c.3506A>G	c.(3505-3507)aAc>aGc	p.N1169S		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1169	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGATGACTGGTTCCTCAATTC	0.398000														133			32		0	0	1	0	0
ATF6B	1388	broad.mit.edu	37	6	32095969	32095969	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32095969G>T	uc003nzn.3	-	0	49	c.16C>A	c.(16-18)Ctg>Atg	p.L6M	ATF6B_uc003nzo.3_Missense_Mutation_p.L6M|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_Missense_Mutation_p.L6M	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	6	Transcription activation.				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCGCTGAGCAGCATCAGCTCC	0.607000														104			24		0.00278032	0.00283482	1	1	0
USP35	57558	broad.mit.edu	37	11	77921647	77921647	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77921647G>T	uc021qny.1	+	9	3102	c.2746G>T	c.(2746-2748)Gac>Tac	p.D916Y	USP35_uc001oze.2_Missense_Mutation_p.D672Y|USP35_uc001ozc.3_Missense_Mutation_p.D484Y|USP35_uc010rsp.2_Missense_Mutation_p.D348Y|USP35_uc001ozd.3_Missense_Mutation_p.D527Y|USP35_uc001ozf.3_Missense_Mutation_p.D647Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	916					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCCTAAGGACACAGCCTA	0.582000														235			71		2.36135e-34	2.98683e-34	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46931735	46931735	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46931735C>T	uc003bhw.1	-	0	1333	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	445	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGATGTACACGGTGGCCGTG	0.672000														90			30		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52543325	52543325	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52543325C>T	uc003dej.3	+	21	2409	c.2335C>T	c.(2335-2337)Caa>Taa	p.Q779*		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	779					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCATGGAGAGCAATGCCAGGA	0.577000														55			12		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45701749	45701749	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45701749G>A	uc003tne.4	+	7	1559	c.1541G>A	c.(1540-1542)tGc>tAc	p.C514Y	ADCY1_uc003tnd.3_Missense_Mutation_p.C289Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	514	Interaction with calmodulin (By similarity).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTCATGCACTGCCGGAAAATG	0.522000														60			8		0	0	1	0	0
SCLY	51540	broad.mit.edu	37	2	238990418	238990418	+	Missense_Mutation	SNP	C	T	T	rs140009501		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238990418C>T	uc010fyv.3	+	4	684	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	SCLY_uc002vxm.4_Missense_Mutation_p.R152C|SCLY_uc010znr.2_Missense_Mutation_p.R91C|SCLY_uc010znq.2_Intron	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	185					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CGCGGCAGTCCGCCCGACCAC	0.577000														175			30		0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53565117	53565117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53565117G>A	uc001sby.3	-	6	686	c.560C>T	c.(559-561)tCg>tTg	p.S187L	CSAD_uc001sbw.3_Intron|CSAD_uc009zmt.3_Intron|CSAD_uc010snx.2_Missense_Mutation_p.S214L|CSAD_uc001sbz.3_Missense_Mutation_p.S187L|CSAD_uc009zmu.3_Intron|CSAD_uc021qyd.1_Non-coding_Transcript|CSAD_uc010sny.2_3'UTR	NM_001244705	NP_001231634	Q9Y600	CSAD_HUMAN	Homo sapiens cysteine sulfinic acid decarboxylase (CSAD), transcript variant 2, mRNA.	187					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CACCTCCTTCGATGTGAATAG	0.587000														127			32		0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54544247	54544247	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54544247C>A	uc002qcw.4	-	8	855	c.679G>T	c.(679-681)Gga>Tga	p.G227*	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Nonsense_Mutation_p.G139*|VSTM1_uc002qcx.4_Nonsense_Mutation_p.G196*|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Nonsense_Mutation_p.G107*	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	227						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCATGAGATCCTGGGGGCTCC	0.557000														73			15		1.5739e-10	1.77479e-10	1	1	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613867	81613867	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:81613867C>T	uc003khv.3	+	9	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_uc003khw.3_Silent_p.C141C	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	141					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.C141C(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547000														99			25		0	0	1	0	0
CNNM3	26505	broad.mit.edu	37	2	97493533	97493533	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97493533A>G	uc002swy.3	+	3	1609	c.1585A>G	c.(1585-1587)Agt>Ggt	p.S529G	CNNM3_uc002swz.3_Missense_Mutation_p.S481G	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	Homo sapiens cyclin M3 (CNNM3), transcript variant 1, mRNA.	529					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GAAGCATCCCAGTGTCAACCA	0.552000														156			22		0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6305593	6305593	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6305593A>G	uc003mwv.3	-	2	433	c.310T>C	c.(310-312)Tac>Cac	p.Y104H	F13A1_uc011dib.2_Intron	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	104					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCAATGACGTATTCCACCCTG	0.488000														102			23		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624503	123624503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624503G>A	uc010rzy.2	-	0	724	c.724C>T	c.(724-726)Cac>Tac	p.H242Y		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTCAGGTGCGAGGCACAG	0.458000														135			22		0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50256539	50256539	+	Silent	SNP	G	A	A	rs17854125	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50256539G>A	uc001jhf.2	-	5	788	c.759C>T	c.(757-759)ccC>ccT	p.P253P		NM_001031746	NP_001026916	Q8IW00	CJ072_HUMAN	Homo sapiens V-set and transmembrane domain containing 4 (VSTM4), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane		p.P253P(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CAGGGACTGCGGGAGGAATGT	0.532000														119			19		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33453162	33453162	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33453162C>A	uc003cfq.4	-	4	996	c.466G>T	c.(466-468)Gga>Tga	p.G156*	UBP1_uc003cfr.4_Nonsense_Mutation_p.G156*|UBP1_uc010hga.3_Nonsense_Mutation_p.G156*	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	156					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TCAATTATTCCCACAGACATT	0.333000														127			25		4.72057e-08	5.14176e-08	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55826621	55826621	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55826621C>A	uc010qhy.1	-	18	2526	c.2131G>T	c.(2131-2133)Gtg>Ttg	p.V711L	PCDH15_uc010qhq.2_Missense_Mutation_p.V711L|PCDH15_uc010qhr.2_Missense_Mutation_p.V706L|PCDH15_uc021pqv.1_Missense_Mutation_p.V706L|PCDH15_uc021pqw.1_Missense_Mutation_p.V718L|PCDH15_uc010qht.2_Missense_Mutation_p.V713L|PCDH15_uc021pqx.1_Missense_Mutation_p.V706L|PCDH15_uc001jjv.1_Missense_Mutation_p.V684L|PCDH15_uc021pqy.1_Missense_Mutation_p.V706L|PCDH15_uc021pqz.1_Missense_Mutation_p.V684L|PCDH15_uc010qhv.1_Missense_Mutation_p.V706L|PCDH15_uc010qhw.1_Missense_Mutation_p.V669L|PCDH15_uc010qhx.1_Missense_Mutation_p.V635L|PCDH15_uc010qhz.1_Missense_Mutation_p.V706L|PCDH15_uc010qia.1_Missense_Mutation_p.V684L|PCDH15_uc001jju.1_Missense_Mutation_p.V706L|PCDH15_uc010qib.1_Missense_Mutation_p.V684L|PCDH15_uc001jjw.3_Missense_Mutation_p.V706L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	706	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCACCACTATGTTTACT	0.383000										HNSCC(58;0.16)				60			13		4.36969e-10	4.89342e-10	1	1	0
SGSM2	9905	broad.mit.edu	37	17	2282760	2282760	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282760G>A	uc002fum.4	+	23	3279	c.3102G>A	c.(3100-3102)ctG>ctA	p.L1034L	SGSM2_uc002fun.4_Silent_p.L989L|SGSM2_uc010vqw.2_Intron|SGSM2_uc002fuq.3_Silent_p.L151L	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	989						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGGAGATCCTGCGGATTGCCC	0.622000														62			12		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21226159	21226159	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21226159G>A	uc002red.3	-	28	12263	c.12135C>T	c.(12133-12135)gtC>gtT	p.V4045V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4045					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAGATTCCCGGACCCTCAACT	0.403000														414			71		0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9570435	9570435	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9570435T>G	uc002koe.1	-	10	1411	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Missense_Mutation_p.K277N|PPP4R1_uc002kod.1_Missense_Mutation_p.K414N|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	431					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GTAACATAGATTTGTAGTTAC	0.418000														141			33		0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24931466	24931466	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24931466C>A	uc002dnb.3	-	19	2724	c.2631G>T	c.(2629-2631)gaG>gaT	p.E877D	ARHGAP17_uc002dmw.3_3'UTR|ARHGAP17_uc002dmy.3_Missense_Mutation_p.E322D|ARHGAP17_uc002dmz.3_Missense_Mutation_p.E401D|ARHGAP17_uc002dna.3_Missense_Mutation_p.E604D|ARHGAP17_uc002dnc.3_Missense_Mutation_p.E799D|ARHGAP17_uc010vcf.2_Missense_Mutation_p.E620D|ARHGAP17_uc002dnd.1_Non-coding_Transcript	NM_001006634	NP_001006635	Q68EM7	RHG17_HUMAN	Homo sapiens Rho GTPase activating protein 17 (ARHGAP17), transcript variant 1, mRNA.	877					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GGGCAGTGCTCTCGGTATCAT	0.557000														242			56		6.56871e-35	8.3154e-35	1	1	0
TMEM150B	284417	broad.mit.edu	37	19	55824302	55824302	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55824302G>T	uc010esw.1	-	7	800	c.627C>A	c.(625-627)tgC>tgA	p.C209*	TMEM150B_uc010yfu.1_Nonsense_Mutation_p.C209*|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CACACAGGGTGCAGCTCTCCA	0.692000														40			14		4.36969e-10	4.89342e-10	1	1	0
ANKRD26	22852	broad.mit.edu	37	10	27313399	27313399	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27313399A>G	uc009xku.1	-	27	4234	c.4062T>C	c.(4060-4062)gtT>gtC	p.V1354V	ANKRD26_uc001itg.2_Silent_p.V1040V|ANKRD26_uc001ith.2_Silent_p.V1353V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1353						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TTTCTAATTCAACATTTTTCT	0.249000														39			5		0	0	1	0	0
TMEM180	79847	broad.mit.edu	37	10	104230514	104230514	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104230514C>T	uc001kvt.3	+	4	563	c.344C>T	c.(343-345)gCg>gTg	p.A115V	TMEM180_uc001kvs.3_Intron|TMEM180_uc010qql.2_Intron|TMEM180_uc010qqm.1_Intron|TMEM180_uc001kvu.3_Missense_Mutation_p.A115V	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	115						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCGTTCCTGGCGTTCTGGGTG	0.692000														348			90		0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129284287	129284287	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129284287C>T	uc003emx.2	-	24	4517	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T	PLXND1_uc011blb.1_Missense_Mutation_p.A141T|U7_uc021xdx.1_5'Flank	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1473					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCGGCCGAGGCGTCAATGAGG	0.592000														160			37		0	0	1	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916165	149916165	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149916165C>T	uc001etn.3	-	11	2479	c.2123G>A	c.(2122-2124)tGc>tAc	p.C708Y		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	708					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTTCCTGGCAGTGGACTCC	0.662000														130			49		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107479	131107479	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131107479C>T	uc004but.3	+	2	492	c.207C>T	c.(205-207)tgC>tgT	p.C69C	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	69					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TGCGACAGTGCCTGCAGGAGC	0.622000														118			17		0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155749142	155749142	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155749142T>C	uc003ioo.3	+	4	1698	c.1525T>C	c.(1525-1527)Tca>Cca	p.S509P	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	509							RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTATCCTTTGTCACCAACAAT	0.433000														199			46		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86115389	86115389	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86115389T>C	uc003ycz.4	+	2	442	c.405T>C	c.(403-405)gcT>gcC	p.A135A	E2F5_uc003yda.4_Silent_p.A135A|E2F5_uc010mab.3_5'UTR	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	135	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATCTTAAAGCTGAAATTGAAG	0.338000														21			4		0	0	1	0	0
CCDC126	90693	broad.mit.edu	37	7	23650947	23650947	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23650947A>T	uc003swn.3	+	2	358	c.13A>T	c.(13-15)Atc>Ttc	p.I5F	CCDC126_uc003swl.3_Missense_Mutation_p.I5F|CCDC126_uc003swm.3_Missense_Mutation_p.I5F	NM_138771	NP_620126	Q96EE4	CC126_HUMAN	Homo sapiens coiled-coil domain containing 126 (CCDC126), mRNA.	5						extracellular region				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						GTTTTTTACAATCTCAAGAAA	0.318000														52			9		0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63967220	63967220	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63967220C>T	uc002amp.3	-	37	7315	c.7167G>A	c.(7165-7167)acG>acA	p.T2389T		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2389					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACAGAAGCCGTCAGGCCTC	0.488000														173			49		0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150027809	150027809	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150027809G>A	uc003lsn.3	+	2	1078	c.704G>A	c.(703-705)aGc>aAc	p.S235N	SYNPO_uc021yfu.1_Missense_Mutation_p.S235N|SYNPO_uc003lso.4_5'UTR|SYNPO_uc003lsp.3_5'UTR|SYNPO_uc021yfv.1_5'Flank	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	235					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCCCAGAGCCCCGACAGA	0.667000														61			17		0	0	1	0	0
SNX5	27131	broad.mit.edu	37	20	17923780	17923780	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:17923780A>C	uc002wqc.3	-	11	1224	c.1138T>G	c.(1138-1140)Tct>Gct	p.S380A	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Missense_Mutation_p.S380A|SNX5_uc002wqe.3_Missense_Mutation_p.S275A	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	380	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TCCAGTTCAGACATTTCAATT	0.328000														251			53		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72008644	72008644	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72008644C>A	uc001swo.2	-	28	5689	c.5330G>T	c.(5329-5331)aGa>aTa	p.R1777I		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1777					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATATCACATCTCATAGCCAC	0.388000														121			21		2.98393e-07	3.21458e-07	1	1	0
OR5F1	338674	broad.mit.edu	37	11	55761759	55761759	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55761759A>G	uc010riv.2	-	0	343	c.343T>C	c.(343-345)Ttt>Ctt	p.F115L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					ATTAACCCAAAGAGGATGCAT	0.493000														197			35		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26569946	26569946	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26569946C>A	uc001isp.2	+	11	1669	c.1166C>A	c.(1165-1167)tCt>tAt	p.S389Y	GAD2_uc001isq.2_Missense_Mutation_p.S389Y	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	389					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	p.N388I(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AGGGCCAACTCTGTGACGTGG	0.498000														204			9		9.70103e-10	1.08264e-09	1	1	0
CHD3	1107	broad.mit.edu	37	17	7800528	7800528	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7800528C>A	uc002gjd.2	+	10	2014	c.2012C>A	c.(2011-2013)cCg>cAg	p.P671Q	CHD3_uc002gje.2_Missense_Mutation_p.P612Q|CHD3_uc002gjf.2_Missense_Mutation_p.P612Q|CHD3_uc002gjg.1_Missense_Mutation_p.P440Q	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	612	Chromo 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTGAAAGACCCGCACTATGCT	0.547000														145			32		6.00712e-18	7.23423e-18	1	1	0
STK31	56164	broad.mit.edu	37	7	23749932	23749932	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23749932G>T	uc003sws.4	+	0	95	c.28G>T	c.(28-30)Gct>Tct	p.A10S	STK31_uc003swt.4_5'UTR|STK31_uc011jze.2_Missense_Mutation_p.A10S|STK31_uc010kuq.3_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	10							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTCTTCTAGAGCTTCCGCAAC	0.567000														110			30		2.12542e-12	2.45163e-12	1	1	0
ST6GALNAC2	10610	broad.mit.edu	37	17	74574856	74574856	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74574856C>T	uc002jsg.4	-	1	423	c.168G>A	c.(166-168)tcG>tcA	p.S56S		NM_006456	NP_006447	Q9UJ37	SIA7B_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (ST6GALNAC2), mRNA.	56					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						TCCAAGAATTCGATGCCTTGG	0.498000														104			16		0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124536539	124536539	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124536539G>A	uc003eho.3	-	7	1354	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	ITGB5_uc010hrx.3_Non-coding_Transcript	NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		GTTGTTCCAGGTATCAGGGCT	0.383000														64			16		0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38341380	38341380	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38341380G>A	uc001ccf.1	-	10	1231	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	INPP5B_uc009vvk.1_Silent_p.V503V|INPP5B_uc001ccg.1_Silent_p.V562V|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	642					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CGTCATTTACGACCCTCACCT	0.483000														52			4		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20550138	20550138	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20550138G>A	uc003gpr.1	+	22	2577	c.2373G>A	c.(2371-2373)acG>acA	p.T791T	SLIT2_uc003gps.1_Silent_p.T783T	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	791					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAATAAGCACGCTTTCTAATC	0.368000														58			22		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508215	167508215	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167508215C>T	uc003ffa.4	+	2	504	c.306C>T	c.(304-306)agC>agT	p.S102S	SERPINI1_uc003ffb.4_Silent_p.S102S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	102					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						CTAAAGAGAGCCAATATGTGA	0.328000														101			9		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78328588	78328588	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78328588G>A	uc003kfs.3	-	8	1445	c.1439C>T	c.(1438-1440)tCt>tTt	p.S480F	DMGDH_uc011cte.1_Missense_Mutation_p.S330F|DMGDH_uc011ctf.1_Missense_Mutation_p.S279F|DMGDH_uc011ctg.1_Missense_Mutation_p.S100F	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	480					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity	p.E479E(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		GGAACACTTAGACTCCAGCCT	0.507000														268			80		0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	33003785	33003785	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:33003785C>A	uc001rlj.4	-	4	1408	c.1293G>T	c.(1291-1293)ttG>ttT	p.L431F	PKP2_uc001rlk.4_Missense_Mutation_p.L431F|PKP2_uc010skj.2_Missense_Mutation_p.L431F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	431					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAGCCACCTCCAATTTGTTGT	0.448000														133			37		4.65686e-17	5.57603e-17	1	1	0
OLIG3	167826	broad.mit.edu	37	6	137815078	137815078	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815078G>A	uc003qhp.1	-	0	454	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		GTCCTGCTCCGACAGCTGCTT	0.602000														258			69		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481343	95481343	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95481343C>T	uc010fhq.2	-	1	1037	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	635										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						CTTGTGTTCTCTCTAAAGCAA	0.353000														118			41		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343475	234343475	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234343475G>A	uc002vui.1	+	4	526	c.514G>A	c.(514-516)Gcg>Acg	p.A172T	DGKD_uc002vuj.1_Missense_Mutation_p.A128T|DGKD_uc010fyh.1_Missense_Mutation_p.A39T|DGKD_uc002vuk.1_Missense_Mutation_p.A39T	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	172					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CTGTTCCCACGCGAGGCCGAC	0.562000														292			94		0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486692	125486692	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125486692T>C	uc004bmu.1	+	0	424	c.424T>C	c.(424-426)Tgc>Cgc	p.C142R		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ACCATGGCATTGCCTACTCAT	0.517000														301			64		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27425127	27425127	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27425127T>C	uc003njj.3	-	2	948	c.137A>G	c.(136-138)gAc>gGc	p.D46G	ZNF184_uc010jqv.3_Missense_Mutation_p.D46G|ZNF184_uc003nji.3_Missense_Mutation_p.D46G	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTGGCCAGGGTCCAGCTGTTT	0.413000														147			32		0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24663381	24663381	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24663381C>A	uc003swx.3	+	2	394	c.95C>A	c.(94-96)cCt>cAt	p.P32H	MPP6_uc003swy.3_Missense_Mutation_p.P32H	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	32	L27 1.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATGGAGAATCCTATTGTAAAA	0.338000														70			12		2.27111e-07	2.44751e-07	1	1	0
CDH23	64072	broad.mit.edu	37	10	73569753	73569753	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73569753C>T	uc001jrx.4	+	58	9280	c.8890C>T	c.(8890-8892)Cgt>Tgt	p.R2964C	CDH23_uc001jsg.4_Missense_Mutation_p.R727C|CDH23_uc001jsh.4_Missense_Mutation_p.R727C|CDH23_uc001jsi.4_Missense_Mutation_p.R727C|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2967	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GATCCCCGACCGTGTGCGCGG	0.602000														220			41		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77632491	77632491	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77632491G>A	uc021rks.1	-	77	13458	c.13191C>T	c.(13189-13191)tgC>tgT	p.C4397C	MYCBP2_uc010aev.3_Silent_p.C3763C|MYCBP2_uc001vke.3_Silent_p.C976C	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	4359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAACACCCCCGCATGGATGGC	0.448000														147			20		0	0	1	0	0
HAS3	3038	broad.mit.edu	37	16	69143880	69143880	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69143880C>T	uc010cfh.3	+	1	806	c.582C>T	c.(580-582)cgC>cgT	p.R194R	HAS3_uc002ewk.3_Silent_p.R194R|HAS3_uc010vlk.1_Silent_p.R194R|HAS3_uc002ewl.3_Silent_p.R194R	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	194					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R194H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GAGGCAAGCGCGAGGTCATGT	0.627000														73			22		0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2898752	2898752	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2898752G>A	uc010ckd.3	+	12	1126	c.1036G>A	c.(1036-1038)Gcc>Acc	p.A346T	RAP1GAP2_uc010cke.3_Missense_Mutation_p.A331T	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	346	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CGACGGAGACGCCCAGCAGGT	0.607000														150			24		0	0	1	0	0
NRBP1	29959	broad.mit.edu	37	2	27659651	27659651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27659651G>A	uc002rko.3	+	8	1525	c.693G>A	c.(691-693)aaG>aaA	p.K231K	NRBP1_uc002rkp.3_Silent_p.K231K|NRBP1_uc002rkr.3_Silent_p.K22K	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN	Homo sapiens nuclear receptor binding protein 1 (NRBP1), mRNA.	231	Protein kinase.				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					ATCATGTGAAGACTTGTCGAG	0.498000														87			29		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837449	53837449	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53837449G>A	uc003dgv.4	+	44	5599	c.5436_splice	c.e44-1	p.R1812_splice	CACNA1D_uc003dgu.4_Splice_Site_p.R1832_splice|CACNA1D_uc003dgy.4_Splice_Site_p.R1788_splice|CACNA1D_uc003dgw.4_Splice_Site_p.R1479_splice|CACNA1D_uc011bes.2_Splice_Site	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1812					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CCCAACTGCAGGTCCGACTCA	0.597000														214			59		0	0	1	0	0
HSPH1	10808	broad.mit.edu	37	13	31724241	31724241	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31724241A>T	uc001utl.3	-	7	1264	c.993T>A	c.(991-993)caT>caA	p.H331Q	HSPH1_uc001utj.3_Missense_Mutation_p.H329Q|HSPH1_uc001utk.3_Missense_Mutation_p.H329Q|HSPH1_uc010aaw.3_Missense_Mutation_p.H288Q|HSPH1_uc010tds.2_Missense_Mutation_p.H253Q|HSPH1_uc010tdt.1_Non-coding_Transcript	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	329					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CTACTTTGAGATGAGTTTGTT	0.373000														139			11		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25851014	25851014	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25851014T>G	uc003nfk.4	-	6	914	c.804A>C	c.(802-804)gaA>gaC	p.E268D	SLC17A3_uc003nfi.4_Missense_Mutation_p.E190D|SLC17A3_uc011djz.1_Missense_Mutation_p.E268D|SLC17A3_uc011dka.1_Missense_Mutation_p.E190D	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	190					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						ATATGATGTATTCTTTTTCTG	0.408000														83			19		0	0	1	0	0
R3HDM1	23518	broad.mit.edu	37	2	136399206	136399206	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136399206A>G	uc002tuo.3	+	14	1690	c.1320A>G	c.(1318-1320)gcA>gcG	p.A440A	R3HDM1_uc010fni.3_Silent_p.A438A|R3HDM1_uc002tup.3_Silent_p.A384A|R3HDM1_uc010zbh.2_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	440							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CTCATGGCGCACCTGTCGTCT	0.498000														213			17		0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111574013	111574013	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111574013C>A	uc001plt.3	+	6	932	c.814C>A	c.(814-816)Ctc>Atc	p.L272I		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	272					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAATGGATGCTCATAGAAGT	0.463000														82			24		0.000295444	0.000304621	1	1	0
AKR1CL1	340811	broad.mit.edu	37	10	5203856	5203856	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5203856A>G	uc009xhz.2	-	2		c.424T>C								Homo sapiens aldo-keto reductase family 1, member C-like 1 (AKR1CL1), non-coding RNA.											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GAAGAGATCTACATAGTCCGG	0.418000														53			16		0	0	1	0	0
BFAR	51283	broad.mit.edu	37	16	14738367	14738367	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14738367G>A	uc002dco.3	+	1	445	c.164G>A	c.(163-165)cGt>cAt	p.R55H	BFAR_uc010uzh.2_5'UTR	NM_016561	NP_057645	Q9NZS9	BFAR_HUMAN	Homo sapiens bifunctional apoptosis regulator (BFAR), mRNA.	55					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AGCTTCTGCCGTCACTGCCTT	0.488000														205			53		0	0	1	0	0
CETN1	1068	broad.mit.edu	37	18	580753	580753	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:580753C>T	uc002kko.1	+	0	385	c.345C>T	c.(343-345)gaC>gaT	p.D115D		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	115	EF-hand 3.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TCTTTGATGACGATGAGACCG	0.527000														141			22		0	0	1	0	0
LUC7L2	51631	broad.mit.edu	37	7	139092004	139092004	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139092004C>T	uc011kqt.2	+	6	1027	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	LUC7L2_uc011kqs.2_Missense_Mutation_p.L196F|LUC7L2_uc003vuy.3_Missense_Mutation_p.L198F|LUC7L2_uc003vux.3_Missense_Mutation_p.L199F|LUC7L2_uc003vuz.1_Missense_Mutation_p.L146F|LUC7L2_uc003vva.3_Missense_Mutation_p.L146F	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	199	Arg/Ser-rich.						enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CTATTTAGGACTTCATGATAA	0.403000														83			12		0	0	1	0	0
IRF3	3661	broad.mit.edu	37	19	50166680	50166680	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50166680C>T	uc002poy.2	-	1	1276	c.257G>A	c.(256-258)cGc>cAc	p.R86H	IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_Intron|IRF3_uc002pot.2_Missense_Mutation_p.R86H|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_Intron|IRF3_uc002pow.3_Missense_Mutation_p.R86H|IRF3_uc021uxo.1_Missense_Mutation_p.R51H|IRF3_uc002pou.3_Missense_Mutation_p.R86H|IRF3_uc010end.2_Missense_Mutation_p.R86H|IRF3_uc002poz.1_Missense_Mutation_p.R86H|IRF3_uc010ene.1_Intron|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.	86					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)		CCCTTCTTTGCGGTTGAGGGC	0.577000														96			23		0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55335665	55335665	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:55335665A>G	uc002iuz.1	+	3	393	c.220A>G	c.(220-222)Agt>Ggt	p.S74G	MSI2_uc010wnm.1_Missense_Mutation_p.S52G|MSI2_uc002iva.3_Missense_Mutation_p.S70G	NM_138962	NP_620412	Q96DH6	MSI2H_HUMAN	Homo sapiens musashi homolog 2 (Drosophila) (MSI2), transcript variant 1, mRNA.	74	RRM 1.					cytoplasm	RNA binding|nucleotide binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AGACCCAGCAAGTGTAGATAA	0.458000			T	HOXA9	CML									174			40		0	0	1	0	0
RNF32	140545	broad.mit.edu	37	7	156468458	156468458	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468458C>T	uc003wmo.3	+	7	983	c.753C>T	c.(751-753)atC>atT	p.I251I	RNF32_uc010lqm.3_Silent_p.I251I|RNF32_uc003wmq.3_Silent_p.I251I|RNF32_uc003wmr.3_Silent_p.I251I|RNF32_uc003wmu.3_Non-coding_Transcript	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	251						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TTGCAGAAATCGATCAGTGCT	0.488000														190			32		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228758521	228758521	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228758521G>T	uc002vpn.1	+	4	407	c.328G>T	c.(328-330)Gga>Tga	p.G110*	WDR69_uc010zlw.1_Nonsense_Mutation_p.G95*|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	110								p.T109I(1)|p.G110V(1)		breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CTTTATCACAGGAAGCTATGA	0.443000														64			19		1.45105e-14	1.70617e-14	1	1	0
ARHGAP31	57514	broad.mit.edu	37	3	119084190	119084190	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084190A>C	uc003ecj.4	+	1	660	c.128A>C	c.(127-129)gAa>gCa	p.E43A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	43	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						AGCTGTGCAGAATTTATAGAG	0.358000														56			12		0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879173	27879173	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27879173G>T	uc011dkw.2	-	0	1002	c.925C>A	c.(925-927)Ctt>Att	p.L309I		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						TGATTAAGAAGACTCTTTGCA	0.363000														86			19		1.67942e-08	1.84125e-08	1	1	0
LEMD2	221496	broad.mit.edu	37	6	33744789	33744789	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33744789G>A	uc011drm.2	-	7	1316	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LEMD2_uc010jvg.3_Missense_Mutation_p.R144C|LEMD2_uc011drl.2_Missense_Mutation_p.R133C	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	435						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						TATGGATAGCGCTCCATGTCC	0.617000														118			25		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51251556	51251556	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51251556T>G	uc011bds.2	+	13	1153	c.1130T>G	c.(1129-1131)cTt>cGt	p.L377R		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	377						cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTTGCAGGTCTTATCATTTCT	0.368000														37			4		0	0	1	0	0
PUS7L	83448	broad.mit.edu	37	12	44148466	44148466	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44148466T>C	uc001rns.4	-	1	663	c.583A>G	c.(583-585)Att>Gtt	p.I195V	PUS7L_uc001rnq.4_Missense_Mutation_p.I195V|PUS7L_uc001rnr.4_Missense_Mutation_p.I195V|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	195					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TTTACAACAATTTCACTGTTT	0.323000														66			17		0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066654	18066654	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18066654C>A	uc003stz.3	-	0	833	c.752G>T	c.(751-753)gGa>gTa	p.G251V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	251					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGAAAAGATTCCATGAGTCAA	0.458000														137			23		7.87624e-14	9.21814e-14	1	1	0
TACC2	10579	broad.mit.edu	37	10	123842859	123842859	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123842859G>A	uc001lfv.3	+	3	1204	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.A282T|TACC2_uc010qtv.2_Missense_Mutation_p.A282T	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	282						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACAAGATCCAGCCCCAAGAGC	0.602000														209			42		0	0	1	0	0
PSMD1	5707	broad.mit.edu	37	2	232011056	232011056	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:232011056A>C	uc002vrn.2	+	17	2263	c.2101A>C	c.(2101-2103)Atc>Ctc	p.I701L	PSMD1_uc002vrm.2_Missense_Mutation_p.I701L|PSMD1_uc010fxu.2_Missense_Mutation_p.I565L	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 1 (PSMD1), transcript variant 1, mRNA.	701					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GCAGACTGAAATCACTTGTCC	0.423000														126			36		0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67354023	67354023	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67354023C>T	uc001omf.3	+	6	857	c.608C>T	c.(607-609)cCc>cTc	p.P203L		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	203	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	GTGAACCTCCCCATCAATGGC	0.582000														68			21		0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308805	248308805	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248308805C>A	uc010pze.2	+	0	356	c.356C>A	c.(355-357)tCt>tAt	p.S119Y		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			GCTGTTATGTCTTATGACCGC	0.453000														582			103		2.179e-33	2.75329e-33	1	1	0
PLK3	1263	broad.mit.edu	37	1	45268516	45268516	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45268516G>A	uc001cmn.3	+	5	838	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	246	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TATGGTCACTGGGCTGTGTCA	0.607000														156			8		0	0	1	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113522121	113522121	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113522121T>C	uc010ljy.1	-	2	970	c.939A>G	c.(937-939)gaA>gaG	p.E313E		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	313					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTTCATTATGTTCATCATGTT	0.383000														96			8		0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227318	56227318	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56227318A>T	uc002xyq.3	-	3	1048	c.655T>A	c.(655-657)Tac>Aac	p.Y219N	PMEPA1_uc002xyr.3_Missense_Mutation_p.Y169N|PMEPA1_uc002xys.3_Missense_Mutation_p.Y184N|PMEPA1_uc002xyt.3_Missense_Mutation_p.Y169N	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	219					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCGCTGCCGTAGCACGTGGCG	0.682000														92			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23264792	23264792	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23264792A>G	uc021wml.1	+	445		c.18261A>G								Parts of antibodies, mostly variable regions.																		CCCCTCGGTCACTCTGTTCCC	0.627000														140			17		0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58262226	58262226	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58262226G>A	uc002qpx.3	+	1	330	c.107G>A	c.(106-108)aGa>aAa	p.R36K	ZNF587_uc002qqb.2_5'UTR|ZNF551_uc002qqa.3_Missense_Mutation_p.R36K	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGGCTCAGAGATGCCTTTAT	0.473000														122			23		0	0	1	0	0
MFAP4	4239	broad.mit.edu	37	17	19287868	19287868	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19287868G>A	uc002gvs.3	-	5	848	c.747C>T	c.(745-747)tcC>tcT	p.S249S	DM110819_uc010vyt.1_5'Flank|MFAP4_uc002gvt.3_Silent_p.S225S	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	225	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AAGAGAGGTGGGAGCCACCTA	0.567000														49			17		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126154401	126154401	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126154401G>T	uc010hsg.1	+	15	1691	c.1632_splice	c.e15-1	p.R544_splice	CCDC37_uc003eiu.1_Splice_Site_p.R543_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	543										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		TTGCCACCCAGACTTCGAGAA	0.572000														68			14		4.93089e-13	5.72934e-13	1	1	0
PHF12	57649	broad.mit.edu	37	17	27238239	27238239	+	Silent	SNP	G	A	A	rs143319936		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27238239G>A	uc002hdg.1	-	9	2636	c.2106C>T	c.(2104-2106)ccC>ccT	p.P702P	PHF12_uc010wbb.1_Silent_p.P684P|PHF12_uc002hdi.1_Silent_p.P698P|PHF12_uc002hdh.1_Silent_p.P485P	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	702	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			ATAACGTGCCGGGGCTGACCT	0.557000														78			27		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4488548	4488548	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4488548C>A	uc001qmq.1	-	0	347	c.201G>T	c.(199-201)caG>caT	p.Q67H		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	67					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAGATGGTCTGATGGGGTG	0.592000														183			20		1.15919e-05	1.21889e-05	1	1	0
BMPR1A	657	broad.mit.edu	37	10	88635777	88635777	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88635777T>C	uc001kdy.3	+	2	550	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	1					BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AATTGAACAATGCCTCAGCTA	0.328000			"""Mis, N, F"""			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2					76			14		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947834	40947834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40947834G>A	uc003jmh.3	+	7	983	c.869G>A	c.(868-870)aGt>aAt	p.S290N	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	290	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TATGACTACAGTGCCTACCGA	0.428000														73			18		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18297174	18297174	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18297174G>T	uc010zrv.1	+	4	1891	c.1688G>T	c.(1687-1689)gGc>gTc	p.G563V	ZNF133_uc010gcq.2_Missense_Mutation_p.G560V|ZNF133_uc010zrw.1_Missense_Mutation_p.G497V|ZNF133_uc010gcr.2_Missense_Mutation_p.G560V|ZNF133_uc010zrx.1_Missense_Mutation_p.G465V|ZNF133_uc002wql.4_Missense_Mutation_p.G559V|ZNF133_uc010gcs.3_Missense_Mutation_p.G559V|ZNF133_uc010zry.2_Missense_Mutation_p.G465V|ZNF133_uc002wqm.2_Missense_Mutation_p.G560V	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						CTGGGCTTTGGCAATAAGTCA	0.562000														108			29		2.24059e-21	2.74853e-21	1	1	0
TNFRSF11A	8792	broad.mit.edu	37	18	60025520	60025520	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60025520C>T	uc002lin.3	+	4	505	c.467C>T	c.(466-468)gCa>gTa	p.A156V	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.A156V	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	156					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTTGCCTTGCAGGCTACTTC	0.423000														193			34		0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171225744	171225744	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171225744G>T	uc002ufy.3	+	8	971	c.828G>T	c.(826-828)aaG>aaT	p.K276N	MYO3B_uc002ufv.3_Missense_Mutation_p.K263N|MYO3B_uc010fqb.1_Missense_Mutation_p.K276N|MYO3B_uc002ufz.3_Missense_Mutation_p.K276N|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002uga.3_Missense_Mutation_p.K263N|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	276	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GTCTTATTAAGGATTTTGAAA	0.413000														98			20		1.96292e-10	2.20843e-10	1	1	0
PCDHB6	56130	broad.mit.edu	37	5	140530486	140530486	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140530486C>T	uc003lir.3	+	0	648	c.648C>T	c.(646-648)ggC>ggT	p.G216G		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGATGGCGGGTCTCCGC	0.592000														189			37		0	0	1	0	0
C1QTNF1	114897	broad.mit.edu	37	17	77040048	77040048	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77040048A>G	uc002jwt.3	+	0	374	c.292A>G	c.(292-294)Aag>Gag	p.K98E	C1QTNF1_uc002jwp.3_5'UTR|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Missense_Mutation_p.K10E|C1QTNF1_uc002jws.3_5'UTR	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	103						collagen		p.N97S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCCCGGCAGGAAGATGGGCTC	0.597000														152			30		0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35913384	35913384	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35913384T>C	uc002hoa.3	-	13	2524	c.2441A>G	c.(2440-2442)gAt>gGt	p.D814G	SYNRG_uc010wde.2_Missense_Mutation_p.D736G|SYNRG_uc010wdf.2_Missense_Mutation_p.D736G|SYNRG_uc002hoc.3_Missense_Mutation_p.D735G|SYNRG_uc002hoe.3_Missense_Mutation_p.D736G|SYNRG_uc002hod.3_Missense_Mutation_p.D736G|SYNRG_uc010wdg.2_Missense_Mutation_p.D653G|SYNRG_uc002hob.3_Missense_Mutation_p.D814G|SYNRG_uc002hof.3_Missense_Mutation_p.D526G|SYNRG_uc010cvd.1_Missense_Mutation_p.D614G	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	814					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGAAGGGAGATCTAAGGACTT	0.463000														111			26		0	0	1	0	0
ZFP2	80108	broad.mit.edu	37	5	178358719	178358719	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178358719T>C	uc003mjn.1	+	4	914	c.405T>C	c.(403-405)tgT>tgC	p.C135C	ZFP2_uc010jky.2_Silent_p.C135C|ZFP2_uc010jkx.1_Silent_p.C135C|ZFP2_uc021yjb.1_Silent_p.C135C	NM_030613	NP_085116	Q6ZN57	ZFP2_HUMAN	Homo sapiens zinc finger protein 2 homolog (mouse) (ZFP2), mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTAATGTATGTGGGAAACACT	0.403000														91			27		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120989026	120989026	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120989026C>T	uc010rzo.2	+	5	802	c.802C>T	c.(802-804)Cgg>Tgg	p.R268W		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	268	VWFC.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAATTCCTTCGGCGAGGGGA	0.493000														85			16		0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	676048	676048	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:676048C>T	uc021szt.1	+	5	714	c.492C>T	c.(490-492)atC>atT	p.I164I	RAB40C_uc021szu.1_Silent_p.I164I|RAB40C_uc021szv.1_Silent_p.I164I|RAB40C_uc002chq.3_Silent_p.I145I|RAB40C_uc002chr.3_Silent_p.I164I	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	164					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAACGTCATCGAGTCCTTCA	0.642000														229			49		0	0	1	0	0
ELOVL3	83401	broad.mit.edu	37	10	103986348	103986348	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103986348T>C	uc001kut.3	+	0	206	c.43T>C	c.(43-45)Ttc>Ctc	p.F15L		NM_152310	NP_689523	Q9HB03	ELOV3_HUMAN	Homo sapiens ELOVL fatty acid elongase 3 (ELOVL3), mRNA.	15					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		AAATCAGCTGTTCCAGCCCTA	0.532000														181			31		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21936611	21936611	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21936611A>G	uc001bev.3	-	11	1017	c.999_splice	c.e11+1	p.K333_splice	RAP1GAP_uc001bew.3_Splice_Site_p.K397_splice|RAP1GAP_uc001bey.3_Splice_Site_p.K333_splice|RAP1GAP_uc001bex.3_Splice_Site_p.K333_splice	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	333	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AAGAGCGCCCACCTTGTAGAG	0.627000														73			18		0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3121121	3121121	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3121121G>A	uc002lxd.3	+	6	1266	c.1024G>A	c.(1024-1026)Gcg>Acg	p.A342T	DKFZp434J194_uc010xhe.2_5'Flank	NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	342					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCGTGTTCGCGGCCGTGAA	0.597000			Mis		uveal melanoma									75			28		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197143304	197143304	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197143304G>A	uc002utm.1	-	14	3266	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	HECW2_uc002utl.1_Missense_Mutation_p.A672V	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1028	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.A1028A(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATGAACCAGCGCACTTGTGGG	0.537000														139			7		0	0	1	0	0
CCDC104	112942	broad.mit.edu	37	2	55756108	55756108	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55756108G>A	uc002ryx.2	+	4	650	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	CCDC104_uc002ryy.2_Missense_Mutation_p.R126Q	NM_080667	NP_542398	Q96G28	CC104_HUMAN	Homo sapiens coiled-coil domain containing 104 (CCDC104), mRNA.	126								p.R126Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAAGCCATTCGAATAATTCAA	0.333000														72			6		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5011082	5011082	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5011082C>T	uc001lzv.3	+	1	322	c.304C>T	c.(304-306)Cac>Tac	p.H102Y		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	102					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GTGGAATAAGCACACTCTAAC	0.527000														70			6		0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81097352	81097352	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81097352G>A	uc002fgc.4	-	3	469	c.210_splice	c.e3+1	p.A70_splice	C16orf46_uc010chf.3_Splice_Site_p.A70_splice|C16orf46_uc010vno.2_Intron	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	70										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GATACTCACTGCCTCTTCCCA	0.368000														82			22		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156624	155156624	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156624G>A	uc003inw.2	-	24	7815	c.7815C>T	c.(7813-7815)aaC>aaT	p.N2605N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2605					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGACCACCTCGTTACTGCAGT	0.473000														164			37		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39013945	39013945	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39013945C>A	uc002oit.3	+	68	10566	c.10436C>A	c.(10435-10437)gCt>gAt	p.A3479D	RYR1_uc002oiu.3_Missense_Mutation_p.A3479D|RYR1_uc002oiv.1_Missense_Mutation_p.A399D|RYR1_uc010xuf.1_Missense_Mutation_p.A399D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3479					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)	AGCAAAATGGCTAAGGTCGGG	0.567000														231			15		6.72482e-11	7.60803e-11	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66361172	66361172	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66361172T>A	uc003hcy.3	-	3	1193	c.1000A>T	c.(1000-1002)Acc>Tcc	p.T334S	EPHA5_uc003hcx.3_Missense_Mutation_p.T265S|EPHA5_uc003hcz.3_Missense_Mutation_p.T334S|EPHA5_uc011cah.2_Missense_Mutation_p.T334S|EPHA5_uc011cai.2_Missense_Mutation_p.T334S|EPHA5_uc003hda.2_Missense_Mutation_p.T334S	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	334	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACAAGAGGTTGAAGCTTCC	0.478000										TSP Lung(17;0.13)				188			36		0	0	1	0	0
MON1A	84315	broad.mit.edu	37	3	49949310	49949310	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49949310G>A	uc003cxz.3	-	2	679	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	MON1A_uc003cya.3_Intron|MON1A_uc003cyb.2_Intron	NM_032355	NP_115731	Q86VX9	MON1A_HUMAN	Homo sapiens MON1 homolog A (yeast) (MON1A), transcript variant 1, mRNA.	88							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTGATCTGGCGCATGTCTGTA	0.632000														152			24		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138656314	138656314	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138656314G>A	uc003qhu.3	+	32	6502	c.6331G>A	c.(6331-6333)Gca>Aca	p.A2111T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2111					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGACGCAGAAGCACAGATCCA	0.647000														28			3		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140218237	140218237	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140218237C>A	uc004cmp.2	-	18	2320	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	EXD3_uc010ncf.1_Missense_Mutation_p.K359N	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	708					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						TGAGCACAGCCTTGGCCTGCT	0.667000														119			39		2.87052e-16	3.42015e-16	1	1	0
NAGPA	51172	broad.mit.edu	37	16	5083700	5083700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5083700G>A	uc002cyg.3	-	1	143	c.116C>T	c.(115-117)cCc>cTc	p.P39L	ALG1_uc002cyj.3_5'Flank|NAGPA_uc002cyh.3_Non-coding_Transcript|NAGPA_uc010uxx.2_Missense_Mutation_p.P39L|ALG1_uc021tco.1_5'Flank	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	39					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GCGTGGATAGGGCAGTAGCAA	0.761000														53			4		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212285328	212285328	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:212285328A>G	uc002veg.1	-	24	3071	c.2973T>C	c.(2971-2973)gaT>gaC	p.D991D	ERBB4_uc002veh.1_Silent_p.D991D|ERBB4_uc010zji.1_Silent_p.D981D|ERBB4_uc010zjj.1_Silent_p.D981D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	991					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.D991N(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCTTCATACGATCATCACCCT	0.363000										TSP Lung(8;0.080)				44			18		0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70595105	70595105	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:70595105G>T	uc004dzu.4	+	3	552	c.501G>T	c.(499-501)aaG>aaT	p.K167N	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.K167N	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	167	Protein kinase 1.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GACCAATGAAGAAGGATAAGG	0.433000														82			24		6.32553e-13	7.33687e-13	1	1	0
LEPREL1	55214	broad.mit.edu	37	3	189702355	189702355	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:189702355G>A	uc011bsk.2	-	6	1601	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	LEPREL1_uc003fsg.3_Nonsense_Mutation_p.R224*	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	405					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATCCTGTCGTCCTCCATAT	0.313000														76			13		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926574	22926574	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926574G>A	uc002dli.3	+	1	867	c.795G>A	c.(793-795)ccG>ccA	p.P265P		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	265						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	p.P265S(1)|p.P265Q(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGTACTTCCCGCTAGCTCAGA	0.607000														347			90		0	0	1	0	0
OSR1	130497	broad.mit.edu	37	2	19553022	19553022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:19553022C>T	uc002rdc.3	-	1	848	c.545G>A	c.(544-546)cGc>cAc	p.R182H		NM_145260	NP_660303	Q8TAX0	OSR1_HUMAN	Homo sapiens odd-skipped related 1 (Drosophila) (OSR1), mRNA.	182					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				GGTGAAGTGGCGGCCACAGAA	0.567000														258			25		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1046243	1046243	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1046243G>A	uc002lqw.4	+	12	1691	c.1460G>A	c.(1459-1461)gGc>gAc	p.G487D	ABCA7_uc010dsb.1_Missense_Mutation_p.G349D	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	487					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGACCCTGGCCCAGCCGCG	0.657000														537			25		0	0	1	0	0
RFK	55312	broad.mit.edu	37	9	79003496	79003496	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79003496C>T	uc004akd.2	-	2	668	c.311G>A	c.(310-312)aGa>aAa	p.R104K		NM_018339	NP_060809	Q969G6	RIFK_HUMAN	Homo sapiens riboflavin kinase (RFK), mRNA.	104					riboflavin biosynthetic process	cytosol	ATP binding|metal ion binding|riboflavin kinase activity			pancreas(1)|prostate(1)|urinary_tract(1)	3					Riboflavin(DB00140)	CTTTTCTGGTCTCAGGTAGCC	0.368000														75			16		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515509	56515509	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56515509C>A	uc001sjp.1	+	2	1352	c.1163C>A	c.(1162-1164)gCt>gAt	p.A388D	ZC3H10_uc021qyw.1_Missense_Mutation_p.A388D	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	388	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GCTCCTGTGGCTGTATCTGTG	0.592000														86			16		3.52763e-06	3.73571e-06	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22913039	22913039	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22913039G>A	uc001bfx.1	+	3	1015	c.890G>A	c.(889-891)aGc>aAc	p.S297N	EPHA8_uc001bfw.3_Missense_Mutation_p.S297N	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	297	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCTCCCCACAGCCACTCCGCA	0.672000														131			39		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3432402	3432402	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3432402C>A	uc003ggw.3	+	16	4738	c.3834C>A	c.(3832-3834)gcC>gcA	p.A1278A	RGS12_uc003ggv.3_Silent_p.A1278A|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Silent_p.A630A|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Silent_p.A620A|RGS12_uc010icv.3_Silent_p.A477A	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1278						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGGGCTCAGCCTCCAGCCCCC	0.741000														43			11		0.000673444	0.000690401	1	1	0
MKI67	4288	broad.mit.edu	37	10	129905528	129905528	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129905528C>T	uc001lke.3	-	12	4771	c.4576G>A	c.(4576-4578)Gca>Aca	p.A1526T	MKI67_uc001lkf.3_Missense_Mutation_p.A1166T|MKI67_uc009yav.1_Missense_Mutation_p.A1101T|MKI67_uc009yaw.1_Missense_Mutation_p.A676T	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1526	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCCTGAGTGCGAAGAATTCT	0.493000														447			86		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	19	36212526	36212526	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36212526G>T	uc021usv.1	+	2	2277	c.2277G>T	c.(2275-2277)caG>caT	p.Q759H	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	890	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACAGCCACAGCTGCAGCCAC	0.642000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				86			17		1.5739e-10	1.77479e-10	1	1	0
ZNF761	388561	broad.mit.edu	37	19	53959326	53959326	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53959326A>G	uc010eqp.3	+	6	2023	c.1565A>G	c.(1564-1566)tAc>tGc	p.Y522C	ZNF761_uc010ydy.2_Missense_Mutation_p.Y468C|ZNF761_uc002qbt.2_Missense_Mutation_p.Y468C	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GAGAAAGCTTACAAGTGTAAT	0.438000														129			36		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	796502	796502	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:796502G>A	uc010krz.1	+	5	1361	c.1341G>A	c.(1339-1341)acG>acA	p.T447T	HEATR2_uc003siz.2_Silent_p.T315T	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	447							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TGAAGAAGACGCCCTCTGCCT	0.622000														206			42		0	0	1	0	0
DOCK6	57572	broad.mit.edu	37	19	11361633	11361633	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11361633C>A	uc002mqs.4	-	5	678	c.637G>T	c.(637-639)Gaa>Taa	p.E213*		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	213					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TCCACATCTTCTGGGGCCGCC	0.652000														98			16		9.16793e-09	1.00855e-08	1	1	0
TSSC1	7260	broad.mit.edu	37	2	3196197	3196197	+	Missense_Mutation	SNP	C	T	T	rs143356052	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3196197C>T	uc002qxj.2	-	7	1170	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	326							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CTCTTCAGAACGGTGGTCCTC	0.562000														75			15		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46811543	46811543	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46811543C>T	uc002peh.3	+	3	460	c.429C>T	c.(427-429)gaC>gaT	p.D143D	HIF3A_uc002pef.2_Silent_p.D143D|HIF3A_uc002peg.4_Silent_p.D143D|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.D87D|HIF3A_uc002pej.2_Silent_p.D74D|HIF3A_uc010xxy.2_Silent_p.D74D|HIF3A_uc002pel.3_Silent_p.D141D|HIF3A_uc010xxz.2_Silent_p.D92D	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	143	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.L143L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTTCAGGACGCCCTGACCC	0.607000														163			28		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19666603	19666603	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19666603C>T	uc002ykw.3	-	20	2501	c.2470G>A	c.(2470-2472)Gca>Aca	p.A824T		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	824	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACGCAGTGTGCGGCGGACACC	0.582000														167			31		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126240893	126240893	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126240893C>T	uc003ifj.4	+	0	3327	c.3327C>T	c.(3325-3327)ttC>ttT	p.F1109F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1109	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CATTTTACTTCGAAGAAGAGC	0.393000														224			52		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521183	131521183	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521183G>A	uc021voy.1	+	0	1538	c.1538G>A	c.(1537-1539)cGc>cAc	p.R513H	FAM123C_uc002trw.2_Missense_Mutation_p.R513H|FAM123C_uc010fmv.2_Missense_Mutation_p.R513H|FAM123C_uc010fms.1_Missense_Mutation_p.R513H|FAM123C_uc010fmt.1_Missense_Mutation_p.R513H|FAM123C_uc010fmu.1_Missense_Mutation_p.R513H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	513								p.R513H(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCTGGCTGCGCCGAGGCCCC	0.682000														31			9		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114443916	114443916	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114443916G>A	uc001eeb.3	-	3	745	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	AP4B1_uc001eec.3_Intron|AP4B1_uc010owp.2_Silent_p.L88L|AP4B1_uc001eed.3_Silent_p.L187L|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.2_Intron	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	187					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTCAGAATTTCCTCT	0.418000														104			30		0	0	1	0	0
ZNF853	54753	broad.mit.edu	37	7	6662260	6662260	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6662260C>T	uc011jwz.2	+	2	1917	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_017560	NP_060030	P0CG23	ZN853_HUMAN	Homo sapiens zinc finger protein 853 (ZNF853), mRNA.	546						intracellular	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)	2						GCTCCTACTGCGCCAAGCGCT	0.677000														27			10		0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39587359	39587359	+	Missense_Mutation	SNP	G	T	T	rs145907115		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39587359G>T	uc001uwy.3	-	10	2903	c.2030C>A	c.(2029-2031)tCc>tAc	p.S677Y	PROSER1_uc001uwz.3_Missense_Mutation_p.S655Y	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA.	677	Ser-rich.																GGAAATAGAGGAAAGAGGATT	0.428000														140			21		6.33239e-15	7.46874e-15	1	1	0
OR10J1	26476	broad.mit.edu	37	1	159410122	159410122	+	Missense_Mutation	SNP	C	T	T	rs143481177		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159410122C>T	uc010piv.2	+	0	611	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	192					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTGTGACATCCGCCCTGTGAT	0.478000														273			51		0	0	1	0	0
IL31RA	133396	broad.mit.edu	37	5	55203234	55203234	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55203234T>G	uc003jql.3	+	9	1492	c.1300T>G	c.(1300-1302)Ttg>Gtg	p.L434V	IL31RA_uc003jqk.3_Missense_Mutation_p.L434V|IL31RA_uc011cqj.2_Missense_Mutation_p.L292V|IL31RA_uc003jqm.3_Missense_Mutation_p.L415V|IL31RA_uc003jqn.3_Missense_Mutation_p.L434V|IL31RA_uc010iwa.1_Missense_Mutation_p.L402V|IL31RA_uc021xyq.1_Missense_Mutation_p.L415V|IL31RA_uc003jqo.3_Missense_Mutation_p.L292V	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	402	Fibronectin type-III 5.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTATCCAATGTTGCATGACAA	0.438000														76			5		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123187521	123187521	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123187521G>A	uc001ucx.1	-	0	384	c.310C>T	c.(310-312)Ctc>Ttc	p.L104F	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	104					negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	AACATGAAGAGCATCAGCCGG	0.562000														135			29		0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29397296	29397296	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29397296G>T	uc002rmv.3	+	14	2020	c.1781G>T	c.(1780-1782)aGa>aTa	p.R594I	CLIP4_uc002rmu.3_Missense_Mutation_p.R594I|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	594										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					ATTAACAGAAGAAATGCTTTT	0.348000														83			8		0.000157383	0.000162836	1	1	0
ABCB5	340273	broad.mit.edu	37	7	20682918	20682918	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682918G>T	uc010kuh.3	+	5	663	c.426G>T	c.(424-426)caG>caT	p.Q142H		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	326	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCGAAAACAGTTTTTTCATT	0.408000														64			9		1.12685e-05	1.18529e-05	1	1	0
RINL	126432	broad.mit.edu	37	19	39361854	39361854	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39361854G>A	uc010xuo.2	-	6	552	c.465C>T	c.(463-465)atC>atT	p.I155I	RINL_uc002ojq.3_Silent_p.I41I|RINL_uc002ojr.1_5'Flank	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	41							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGACCCTGCCGATCTGCACAG	0.597000														133			19		0	0	1	0	0
LACTB2	51110	broad.mit.edu	37	8	71553220	71553220	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71553220G>A	uc003xyp.3	-	4	750	c.658C>T	c.(658-660)Cga>Tga	p.R220*	LOC286190_uc022avq.1_Intron	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	220							hydrolase activity|metal ion binding	p.R220*(2)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTGCTCTCGAATATTTCTG	0.294000														34			6		0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7982451	7982451	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7982451A>G	uc010sgh.2	-	3	559	c.538T>C	c.(538-540)Tac>Cac	p.Y180H	SLC2A14_uc001qtk.3_Missense_Mutation_p.Y165H|SLC2A14_uc001qtl.3_Missense_Mutation_p.Y142H|SLC2A14_uc001qtm.3_Missense_Mutation_p.Y142H|SLC2A14_uc010sgg.2_Missense_Mutation_p.Y56H|SLC2A14_uc001qtn.3_Missense_Mutation_p.Y165H|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	165					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TCTCCAATGTACATGGGCACA	0.512000														103			26		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090699	9090699	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9090699C>A	uc002mkp.3	-	0	1320	c.1116G>T	c.(1114-1116)gaG>gaT	p.E372D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	372	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						TATCCATGGTCTCAGCGAAGG	0.517000														77			18		9.7654e-05	0.000101409	1	1	0
FMN1	342184	broad.mit.edu	37	15	33261570	33261570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33261570G>A	uc001zhf.4	-	3	1663	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	778	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CAACCCCCTCGCCATCTGTGT	0.483000														335			84		0	0	1	0	0
CDCA8	55143	broad.mit.edu	37	1	38168953	38168953	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38168953C>T	uc001cbr.3	+	7	625	c.518C>T	c.(517-519)gCc>gTc	p.A173V	CDCA8_uc001cbs.3_Missense_Mutation_p.A173V|CDCA8_uc010oih.1_Missense_Mutation_p.A106V	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	173					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTTACCCCAGCCGTGGGCCGA	0.537000														278			20		0	0	1	0	0
TMEM95	339168	broad.mit.edu	37	17	7258594	7258594	+	Missense_Mutation	SNP	C	T	T	rs141789227		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7258594C>T	uc002ggg.1	+	0	98	c.71C>T	c.(70-72)gCc>gTc	p.A24V	TMEM95_uc002ggf.1_Missense_Mutation_p.A24V|TMEM95_uc002ggh.1_Missense_Mutation_p.A24V			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	24						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CGCCTCCCAGCCCACGACTTG	0.662000														87			20		0	0	1	0	0
ZDHHC22	283576	broad.mit.edu	37	14	77605761	77605761	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77605761G>A	uc010asp.3	-	1	524	c.321C>T	c.(319-321)caC>caT	p.H107H		NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Homo sapiens zinc finger, DHHC-type containing 22 (ZDHHC22), mRNA.	107						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AGTGATGGTCGTGCCTCAGGG	0.627000														35			13		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65162603	65162603	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65162603C>T	uc010wqk.2	-	14	2073	c.1886G>A	c.(1885-1887)aGt>aAt	p.S629N	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.S629N	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CCTGTTAGGACTCCATGGTAT	0.358000														100			17		0	0	1	0	0
HSPA12B	116835	broad.mit.edu	37	20	3730865	3730865	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3730865G>A	uc002wjd.3	+	10	1434	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	HSPA12B_uc010zqj.2_Missense_Mutation_p.R265H|HSPA12B_uc010zqi.2_Missense_Mutation_p.R430H|HSPA12B_uc002wje.3_Missense_Mutation_p.R344H	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN	Homo sapiens heat shock 70kD protein 12B (HSPA12B), transcript variant 1, mRNA.	431							ATP binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						ACCGCTCTGCGCAGGAGCAGG	0.682000														35			11		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209781	19209781	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209781C>T	uc001bbb.3	-	5	871	c.595G>A	c.(595-597)Ggt>Agt	p.G199S	ALDH4A1_uc010ocu.2_Missense_Mutation_p.G139S|ALDH4A1_uc001bbc.3_Missense_Mutation_p.G199S|ALDH4A1_uc021ohl.1_Missense_Mutation_p.G199S|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	199					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	ACCTCCAGACCCCGGTACACC	0.657000														98			33		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83346884	83346884	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83346884G>A	uc010uoi.2	-	10	1395	c.1218C>T	c.(1216-1218)aaC>aaT	p.N406N	AP3B2_uc010uoh.2_Silent_p.N406N|AP3B2_uc010uoj.2_Silent_p.N374N|AP3B2_uc010uog.2_Silent_p.N42N	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	406					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CAGTAGGAATGTTGGTCTCAT	0.572000														42			13		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170628015	170628015	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170628015G>A	uc003qxp.3	+	1	1645	c.1537G>A	c.(1537-1539)Gat>Aat	p.D513N	FAM120B_uc003qxo.1_Missense_Mutation_p.D513N|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	513					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CATATGTACAGATCCTATATC	0.388000														117			22		0	0	1	0	0
IFNAR1	3454	broad.mit.edu	37	21	34725173	34725173	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34725173G>T	uc002yrn.3	+	8	1400	c.1253G>T	c.(1252-1254)aGc>aTc	p.S418I	IFNAR1_uc011adv.2_Missense_Mutation_p.S349I	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	418	Fibronectin type-III 3.				JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTGAATAAAAGCAGTGTTTTT	0.328000														79			9		0.00621372	0.00630477	1	1	0
SLC25A41	284427	broad.mit.edu	37	19	6426528	6426528	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6426528G>A	uc010dus.3	-	6	1071	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	KHSRP_uc002mer.4_5'Flank|SLC25A41_uc010dut.3_Missense_Mutation_p.R191W	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN	Homo sapiens solute carrier family 25, member 41 (SLC25A41), mRNA.	329					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						GCCAGGATCCGCTGGAGGACT	0.612000														183			45		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26950699	26950699	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26950699C>T	uc002rhn.2	+	1	611	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGCATGCGGCGCGCCGA	0.652000														260			57		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370752	26370752	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370752C>T	uc010jqh.2	+	4	895	c.636C>T	c.(634-636)ggC>ggT	p.G212G	BTN3A2_uc003nhp.3_Silent_p.G212G|BTN3A2_uc011dkd.2_Silent_p.G170G|BTN3A2_uc011dke.2_Silent_p.G189G|BTN3A2_uc010jqi.2_Silent_p.G212G	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	212				RG -> KS (in Ref. 3; AAF76140).		integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCATGAGAGGCGGCTCCGGGG	0.557000														249			47		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476155	32476155	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32476155C>A	uc002roi.3	-	3	1039	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	NLRC4_uc021vfq.1_Nonsense_Mutation_p.E260*|NLRC4_uc002roj.2_Nonsense_Mutation_p.E260*|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	260	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCTTCGATTTCTGGGCAGTTC	0.507000														211			18		3.41278e-10	3.83229e-10	1	1	0
MYOG	4656	broad.mit.edu	37	1	203054860	203054860	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203054860G>A	uc001gzd.3	-	0	518	c.230C>T	c.(229-231)tCg>tTg	p.S77L		NM_002479	NP_002470	P15173	MYOG_HUMAN	Homo sapiens myogenin (myogenic factor 4) (MYOG), mRNA.	77					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						CACGGACACCGACTTCCTCTT	0.672000														273			96		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24884117	24884117	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24884117C>T	uc001wpf.4	+	8	3480	c.3162C>T	c.(3160-3162)atC>atT	p.I1054I		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1054					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCTGGACATCGACCTCCTGC	0.652000														164			38		0	0	1	0	0
BOLA1	51027	broad.mit.edu	37	1	149871987	149871987	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149871987A>G	uc021oya.1	+	0	375	c.375A>G	c.(373-375)ccA>ccG	p.P125P	BOLA1_uc001etf.3_Silent_p.P125P	NM_016074	NP_057158	Q9Y3E2	BOLA1_HUMAN	Homo sapiens bolA homolog 1 (E. coli) (BOLA1), mRNA.	125						extracellular region	protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	10	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTAGCCCCCCATGCCTGGGTG	0.637000														115			38		0	0	1	0	0
ZFR	51663	broad.mit.edu	37	5	32387723	32387723	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:32387723G>A	uc003jhr.1	-	13	2511	c.2431C>T	c.(2431-2433)Ctg>Ttg	p.L811L	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	811	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTGAGCACAGCAAAACAAGG	0.383000														86			14		0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20546630	20546630	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20546630G>A	uc003ndd.2	+	2	216	c.49G>A	c.(49-51)Gtg>Atg	p.V17M	CDKAL1_uc003nde.2_5'UTR|CDKAL1_uc021ymk.1_Missense_Mutation_p.V17M|CDKAL1_uc010jpo.1_Missense_Mutation_p.V17M|CDKAL1_uc003ndb.1_Missense_Mutation_p.V17M	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	17					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CGAAGATATCGTGTCTCAGGA	0.368000														84			26		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248031265	248031265	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248031265A>C	uc001ido.3	+	5	819	c.771_splice	c.e5-1	p.R257_splice	OR2W3_uc001idp.1_Splice_Site	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	257						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTCCCAGAAGTAAGGCTG	0.527000														42			5		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186968053	186968053	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186968053A>C	uc003frh.2	-	7	1466	c.1076T>G	c.(1075-1077)aTt>aGt	p.I359S	MASP1_uc003fri.3_Missense_Mutation_p.I359S|MASP1_uc003frj.3_Missense_Mutation_p.I328S|MASP1_uc003frk.2_Missense_Mutation_p.I359S|MASP1_uc011bse.2_Missense_Mutation_p.I333S	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	359	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACAGGTGGGAATCTTGTTACT	0.488000														238			33		0	0	1	0	0
CRYM-AS1	400508	broad.mit.edu	37	16	21328268	21328268	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21328268C>T	uc010bwr.1	+	2		c.660C>T								Homo sapiens CRYM antisense RNA 1 (non-protein coding) (CRYM-AS1), non-coding RNA.																		TCTGTTATTACTATAAATAAG	0.423000														296			16		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604652	140604652	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604652G>T	uc003ljb.3	+	0	1575	c.1575G>T	c.(1573-1575)caG>caT	p.Q525H		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	525	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCCTACAGGAGTTCGAGT	0.682000														408			47		8.20599e-20	9.98962e-20	1	1	0
GPRC5B	51704	broad.mit.edu	37	16	19883423	19883423	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19883423C>T	uc010vav.2	-	1	1054	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	GPRC5B_uc021tef.1_Missense_Mutation_p.A241T|GPRC5B_uc002dgt.3_Missense_Mutation_p.A249T	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	249										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTCATCCAGGCCACCCAGATG	0.622000														114			12		0	0	1	0	0
GAN	8139	broad.mit.edu	37	16	81399055	81399055	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81399055T>C	uc002fgo.3	+	8	1622	c.1474T>C	c.(1474-1476)Tcc>Ccc	p.S492P		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	492					cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AACTTGCAAGTCCGAGTTCTA	0.458000														274			72		0	0	1	0	0
IRF2BP1	26145	broad.mit.edu	37	19	46389025	46389025	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46389025G>T	uc002pds.1	-	0	352	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		CGCCTGCACAGACGCCATGGC	0.731000														29			14		4.36969e-10	4.89342e-10	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956441	42956441	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956441G>A	uc003cmk.2	+	3	1140	c.954G>A	c.(952-954)acG>acA	p.T318T	ZNF662_uc003cmi.2_Silent_p.T292T|ZNF662_uc003cmj.2_Silent_p.T184T	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAAGCCTTACGCAACATCAAC	0.453000														96			17		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70986112	70986112	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70986112C>A	uc001swb.4	-	4	1106	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	PTPRB_uc010sto.2_Missense_Mutation_p.S359I|PTPRB_uc010stp.2_Missense_Mutation_p.S359I|PTPRB_uc001swc.4_Missense_Mutation_p.S577I|PTPRB_uc001swa.4_Missense_Mutation_p.S577I|PTPRB_uc001swd.4_Missense_Mutation_p.S576I|PTPRB_uc009zrr.2_Missense_Mutation_p.S456I|PTPRB_uc001swe.3_Missense_Mutation_p.S577I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	359	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGACACAGCTGACAGTAAC	0.463000														109			23		0.014323	0.0144916	1	1	0
BCAT2	587	broad.mit.edu	37	19	49303312	49303312	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49303312C>T	uc010emh.2	-	4	513	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BCAT2_uc002pkq.4_Missense_Mutation_p.E113K|BCAT2_uc002pks.3_Missense_Mutation_p.E113K|BCAT2_uc002pkr.3_Missense_Mutation_p.E153K|BCAT2_uc002pkt.3_Missense_Mutation_p.E61K|BCAT2_uc010emi.2_Missense_Mutation_p.E61K|BCAT2_uc002pku.1_Missense_Mutation_p.E113K|BCAT2_uc010emj.2_Non-coding_Transcript	NM_001190	NP_001181	O15382	BCAT2_HUMAN	Homo sapiens branched chain amino-acid transaminase 2, mitochondrial (BCAT2), nuclear gene encoding mitochondrial protein, transcript variant a, mRNA.	153						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	p.E153K(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	TTGTCCACTTCGATGAGCCGG	0.642000														118			33		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147988	82147988	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:82147988C>A	uc001szo.2	-	2	174	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	PPFIA2_uc021rbi.1_Missense_Mutation_p.V5L|PPFIA2_uc021rbj.1_Missense_Mutation_p.V5L|PPFIA2_uc021rbk.1_Missense_Mutation_p.V5L|PPFIA2_uc021rbl.1_Missense_Mutation_p.V5L	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	0										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GTGGGCATCACTTCACACATC	0.413000														18			5		0.184627	0.184976	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138529203	138529203	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138529203C>T	uc011kql.2	-	17	5360	c.5311G>A	c.(5311-5313)Ggt>Agt	p.G1771S	KIAA1549_uc011kqi.2_Missense_Mutation_p.G555S|KIAA1549_uc011kqk.2_Missense_Mutation_p.G555S|KIAA1549_uc011kqj.2_Missense_Mutation_p.G1771S	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1771						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGCAGCAAACCGGGGCCAAAA	0.592000			O	BRAF	pilocytic astrocytoma									44			9		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73745092	73745092	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73745092G>T	uc002jpg.3	+	26	3469	c.3282G>T	c.(3280-3282)caG>caT	p.Q1094H	ITGB4_uc002jph.3_Missense_Mutation_p.Q1094H|ITGB4_uc002jpi.4_Missense_Mutation_p.Q1094H|ITGB4_uc002jpj.3_Missense_Mutation_p.Q1094H	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1094					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCCAGCCCCACTCCA	0.637000														64			6		0.0293803	0.0295844	1	1	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273391	145273391	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:145273391G>A	uc001emn.4	+	2	615	c.245G>A	c.(244-246)tGc>tAc	p.C82Y	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.C82Y|NOTCH2NL_uc001emo.2_Missense_Mutation_p.C82Y|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.	82	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			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						GGCGGCACATGCCATATGCTC	0.527000														777			29		0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9658104	9658104	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:9658104C>T	uc002qzu.3	-	9	1300	c.1117G>A	c.(1117-1119)Gtt>Att	p.V373I	ADAM17_uc010ewy.3_Missense_Mutation_p.V373I|ADAM17_uc010ewz.3_Intron	NM_003183	NP_003174	P78536	ADA17_HUMAN	Homo sapiens ADAM metallopeptidase domain 17 (ADAM17), mRNA.	373	Peptidase M12B.				B cell differentiation|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|T cell differentiation in thymus|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	PDZ domain binding|SH3 domain binding|integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		TTCTTCCCAACTGGGCTATAA	0.289000														87			33		0	0	1	0	0
VDAC1	7416	broad.mit.edu	37	5	133326749	133326749	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133326749T>C	uc003kyp.2	-	3	537	c.214A>G	c.(214-216)Aca>Gca	p.T72A	VDAC1_uc003kyq.2_Missense_Mutation_p.T72A|VDAC1_uc003kyr.2_Missense_Mutation_p.T72A	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	72					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	CATTTCTCTGTAAACGTCAGG	0.458000														216			58		0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60886791	60886791	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60886791T>C	uc009ynk.3	+	4	652	c.549T>C	c.(547-549)ggT>ggC	p.G183G		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	183	SRCR 2.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		GCCTGGGGGGTACCATCAGCT	0.612000														174			36		0	0	1	0	0
TYW3	127253	broad.mit.edu	37	1	75204373	75204373	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75204373G>A	uc001dgn.3	+	3	349	c.256_splice	c.e3-1	p.I86_splice	TYW3_uc010oqw.2_Intron|TYW3_uc010oqx.2_Intron|TYW3_uc010oqy.2_Splice_Site	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	86					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						CATTTATTTAGATTGTAGCTC	0.388000														37			5		0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807396	3807396	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:3807396G>T	uc001alf.3	-	2	462	c.355C>A	c.(355-357)Ctt>Att	p.L119I	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	119								p.L119F(2)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		CCGAGAGGAAGACTTGCAGCC	0.567000														94			6		0.00116845	0.00119477	1	1	0
MST1	4485	broad.mit.edu	37	3	49725205	49725205	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49725205A>C	uc003cxg.3	-	1	292	c.220T>G	c.(220-222)Tgt>Ggt	p.C74G	MST1_uc011bcs.1_Missense_Mutation_p.C74G|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Missense_Mutation_p.C74G|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	60	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAGGGCCCACAGCGACCAGCA	0.627000														112			22		0	0	1	0	0
TTC14	151613	broad.mit.edu	37	3	180327721	180327721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180327721G>T	uc003fkk.3	+	11	1836	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.K568N	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	568							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTATGAAAAGACACAGATAA	0.388000														215			39		1.03484e-13	1.20887e-13	1	1	0
UBXN4	23190	broad.mit.edu	37	2	136540441	136540441	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136540441C>T	uc002tur.3	+	12	1822	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	UBXN4_uc002tus.3_Missense_Mutation_p.S270F|UBXN4_uc002tut.3_Missense_Mutation_p.S140F	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	504					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AATGGAAATTCCACTCAACAG	0.348000														105			47		0	0	1	0	0
ADAR	103	broad.mit.edu	37	1	154575024	154575024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154575024G>A	uc001ffh.3	-	1	336	c.94C>T	c.(94-96)Cca>Tca	p.P32S	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.P32S|ADAR_uc001ffi.3_Missense_Mutation_p.P32S|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR|ADAR_uc001ffm.1_Non-coding_Transcript|ADAR_uc001ffn.2_Missense_Mutation_p.P32S	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	32					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAAGATCCTGGCCCAGGCTGC	0.522000														98			28		0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40949277	40949277	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40949277G>T	uc010bbs.1	+	23	6761	c.6600G>T	c.(6598-6600)aaG>aaT	p.K2200N	CASC5_uc010bbt.1_Missense_Mutation_p.K2174N	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2200	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		tagttcataagcttattttcc	0.368000														24			4		0.00024832	0.000256435	1	1	0
OTUD4	54726	broad.mit.edu	37	4	146058757	146058757	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:146058757C>T	uc003ika.4	-	20	3113	c.2975G>A	c.(2974-2976)gGc>gAc	p.G992D		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	1056							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACCAGAATAGCCCCAATCACT	0.413000														286			60		0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44470643	44470643	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44470643C>A	uc002lck.3	-	1	586	c.399G>T	c.(397-399)caG>caT	p.Q133H	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_Intron|PIAS2_uc002lcl.3_Missense_Mutation_p.Q133H|PIAS2_uc002lcm.3_Missense_Mutation_p.Q133H|PIAS2_uc002lcn.1_Missense_Mutation_p.Q137H	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	133					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						GAGATGGCTGCTGCATCTCAA	0.473000														71			18		1.02788e-11	1.17486e-11	1	1	0
MUC16	94025	broad.mit.edu	37	19	8982221	8982221	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8982221C>A	uc002mkp.3	-	69	42258	c.42054G>T	c.(42052-42054)caG>caT	p.Q14018H	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.Q835H|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14043	SEA 13.			Missing (in Ref. 3; AAK74120).	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						CATGGGTCTGCTGGCTCAGCT	0.622000														123			10		7.48243e-07	8.00842e-07	1	1	0
KPTN	11133	broad.mit.edu	37	19	47979831	47979831	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47979831C>T	uc002pgy.3	-	10	1244	c.1140G>A	c.(1138-1140)caG>caA	p.Q380Q	KPTN_uc010xys.2_Non-coding_Transcript	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	380					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		CGGCAAGCTCCTGCAGCCCAT	0.652000														70			23		0	0	1	0	0
RDBP	7936	broad.mit.edu	37	6	31922863	31922863	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31922863C>T	uc003nyk.3	-	5	581	c.377G>A	c.(376-378)cGt>cAt	p.R126H	RDBP_uc011dot.2_Missense_Mutation_p.R126H|RDBP_uc021yvb.1_Missense_Mutation_p.R126H	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	126					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						CCTCTGGGGACGTCTGGATGA	0.458000														115			22		0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820969	35820969	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35820969G>A	uc010ngt.1	+	1	935	c.656G>A	c.(655-657)cGt>cAt	p.R219H	MAGEB16_uc022bus.1_Missense_Mutation_p.R219H	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	219	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGGGCAACCGTGCCACTGAA	0.507000														81			32		0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449001	238449001	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238449001C>A	uc002vwt.3	+	9	1342	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	MLPH_uc002vws.3_Missense_Mutation_p.A229D|MLPH_uc010fyt.1_Missense_Mutation_p.A344D|MLPH_uc002vwu.3_Missense_Mutation_p.A344D|MLPH_uc002vwv.3_Missense_Mutation_p.A304D|MLPH_uc002vww.3_Missense_Mutation_p.A320D|MLPH_uc002vwx.3_Missense_Mutation_p.A228D	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	372							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GGTCTAGGTGCTGGAGTGCGC	0.632000														59			30		3.73148e-12	4.28986e-12	1	1	0
MUC16	94025	broad.mit.edu	37	19	9015664	9015664	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9015664C>T	uc002mkp.3	-	28	38363	c.38159G>A	c.(38158-38160)gGc>gAc	p.G12720D	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12722	SEA 5.			H -> C (in Ref. 3; AAK74120).	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						CTTCCTGGAGCCAGGGCAATG	0.547000														218			43		0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120195263	120195263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120195263C>T	uc001txj.2	-	21	2674	c.2618G>A	c.(2617-2619)cGa>cAa	p.R873Q	CIT_uc001txh.2_Missense_Mutation_p.R365Q|CIT_uc001txi.2_Missense_Mutation_p.R831Q	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	831					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGTTTTCGGTTCTGGGC	0.542000														342			90		0	0	1	0	0
GABRA5	2558	broad.mit.edu	37	15	27185111	27185111	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27185111G>T	uc001zbd.2	+	8	1296	c.764G>T	c.(763-765)aGg>aTg	p.R255M	GABRB3_uc001zbb.3_5'Flank|GABRA5_uc021sgi.1_Missense_Mutation_p.R255M	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	255					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCTGAAAAGGAAGATTGGC	0.488000														69			19		1.00905e-13	1.17906e-13	1	1	0
IFI27	3429	broad.mit.edu	37	14	94582203	94582203	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94582203G>T	uc021sba.1	+	3	321	c.198G>T	c.(196-198)aaG>aaT	p.K66N	IFI27_uc001ycn.1_Non-coding_Transcript	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	66					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TAGCAGCCAAGATGATGTCCG	0.627000														30			5		0.000602214	0.000618135	1	1	0
PPFIBP2	8495	broad.mit.edu	37	11	7672936	7672936	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7672936T>C	uc001mfj.4	+	22	2685	c.2297T>C	c.(2296-2298)aTc>aCc	p.I766T	PPFIBP2_uc010rbb.1_Missense_Mutation_p.I689T|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.2_Missense_Mutation_p.I700T|PPFIBP2_uc010rbe.2_Missense_Mutation_p.I654T|PPFIBP2_uc001mfl.4_Missense_Mutation_p.I623T|PPFIBP2_uc009yfj.1_Missense_Mutation_p.I410T	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 2 (liprin beta 2) (PPFIBP2), mRNA.	766	SAM 3.				DNA integration|cell communication	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CTTCTCAACATCCCCCCACAA	0.552000														135			45		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114442925	114442925	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114442925G>T	uc001eeb.3	-	4	901	c.715C>A	c.(715-717)Ctg>Atg	p.L239M	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Missense_Mutation_p.L71M|AP4B1_uc010owp.2_Missense_Mutation_p.L140M|AP4B1_uc001eed.3_Missense_Mutation_p.L239M|AP4B1_uc001eea.1_Missense_Mutation_p.L33M|AP4B1_uc010owq.2_Missense_Mutation_p.L146M	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	239					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTATCCAACAGATTGAGAATG	0.453000														111			13		2.61681e-11	2.97614e-11	1	1	0
FAM75C2	645961	broad.mit.edu	37	9	90746326	90746326	+	Silent	SNP	C	T	T	rs149069834	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90746326C>T	uc011lti.2	-	3	1655	c.1626G>A	c.(1624-1626)gcG>gcA	p.A542A		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	542																	CCTCAGAGGTCGCCCCCAGAA	0.517000														204			50		0	0	1	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153314114	153314114	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153314114C>A	uc001fbo.3	-	5	679	c.614G>T	c.(613-615)aGc>aTc	p.S205I	PGLYRP4_uc001fbp.3_Missense_Mutation_p.S201I	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	205					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	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)			CTTCTTCAGGCTTGTCTTCTG	0.537000														219			31		1.22384e-17	1.4705e-17	1	1	0
OVOL1	5017	broad.mit.edu	37	11	65562523	65562523	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65562523G>A	uc001ofp.3	+	3	855	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	OVOL1_uc001ofq.3_Missense_Mutation_p.R110Q	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	172					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		ACAGGCGTGCGGCCCTACAAG	0.607000														61			15		0	0	1	0	0
FOXJ3	22887	broad.mit.edu	37	1	42744089	42744089	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42744089G>T	uc001che.3	-	4	611	c.299C>A	c.(298-300)aCt>aAt	p.T100N	FOXJ3_uc001chf.3_Missense_Mutation_p.T100N|FOXJ3_uc001chh.2_Missense_Mutation_p.T100N|FOXJ3_uc001chg.3_Missense_Mutation_p.T100N	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	100					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCACTTAAAGTCATTTTCTT	0.358000														110			12		5.16669e-11	5.85653e-11	1	1	0
KLRG2	346689	broad.mit.edu	37	7	139168360	139168360	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139168360C>T	uc003vvb.3	-	0	98	c.29G>A	c.(28-30)gGa>gAa	p.G10E	KLRG2_uc010lnc.3_Missense_Mutation_p.G10E	NM_198508	NP_940910	A4D1S0	KLRG2_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 2 (KLRG2), mRNA.	10						integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					GGCTTGGCCTCCGGGCGCAGC	0.711000														38			7		0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2546886	2546886	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2546886C>T	uc002cql.3	+	1	877	c.737C>T	c.(736-738)gCc>gTc	p.A246V	TBC1D24_uc002cqk.3_Missense_Mutation_p.A246V|TBC1D24_uc002cqm.3_Missense_Mutation_p.A246V|TBC1D24_uc010bsm.3_5'Flank	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	246	Rab-GAP TBC.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						GTGGCGCTGGCCATCCTCAAG	0.632000														195			20		0	0	1	0	0
PCDHGB8P	56120	broad.mit.edu	37	5	140807392	140807392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140807392C>T	uc011daz.2	+	0	1540	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_5'Flank|PCDHGC5_uc003lkt.2_5'Flank					Homo sapiens protocadherin gamma subfamily B, 8 pseudogene (PCDHGB8P), non-coding RNA.																		GTGGTGGTCGCGCAGCGTGCC	0.662000														57			15		0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454079	114454079	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114454079C>A	uc001eeg.3	+	3	1159	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	DCLRE1B_uc001eeh.3_Missense_Mutation_p.L163M|DCLRE1B_uc001eei.3_Missense_Mutation_p.L163M	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	289					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTCGCAGCACTGAAGCCTTG	0.577000								Other identified genes with known or suspected DNA repair function						131			7		0.000157383	0.000162836	1	1	0
FNBP1L	54874	broad.mit.edu	37	1	93998540	93998540	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93998540C>A	uc010otk.2	+	7	852	c.701C>A	c.(700-702)gCt>gAt	p.A234D	FNBP1L_uc001dpv.3_Missense_Mutation_p.A234D|FNBP1L_uc001dpw.3_Missense_Mutation_p.A234D	NM_001164473	NP_001157945	Q5T0N5	FBP1L_HUMAN	Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA.	234	Induction of membrane tubulation (By similarity).				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		AGAGGATTTGCTGACTCAGAA	0.328000														46			9		0.000274275	0.000282808	1	1	0
NNT	23530	broad.mit.edu	37	5	43651986	43651986	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43651986G>T	uc003joe.3	+	13	2118	c.1863_splice	c.e13+1	p.Q621_splice	NNT_uc003jof.3_Splice_Site_p.Q621_splice	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	621					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ACATTGAACAGGTAAGATGCT	0.383000														191			36		3.6622e-26	4.57344e-26	1	1	0
USHBP1	83878	broad.mit.edu	37	19	17373371	17373371	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373371A>G	uc002nfs.1	-	3	745	c.632T>C	c.(631-633)cTg>cCg	p.L211P	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.L147P|USHBP1_uc010eam.1_Missense_Mutation_p.L139P	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	211							PDZ domain binding	p.T210M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTTTCTGCAGCGTCTCCTT	0.592000														113			32		0	0	1	0	0
WNT11	7481	broad.mit.edu	37	11	75907625	75907625	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75907625C>T	uc001oxe.3	-	1	344	c.221G>A	c.(220-222)cGc>cAc	p.R74H	WNT11_uc001oxf.1_Missense_Mutation_p.R74H	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	74					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CATGACCTCGCGGGCGGCGTG	0.627000														209			40		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147024484C>T	uc010jgo.1	-	4	1160	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_uc003loq.1_Missense_Mutation_p.D338N|JAKMIP2_uc011dbx.1_Missense_Mutation_p.D296N|JAKMIP2_uc003lor.1_Missense_Mutation_p.D338N|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	338						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433000														180			37		0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53853618	53853618	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53853618A>C	uc003dgz.3	-	6	1645	c.1204T>G	c.(1204-1206)Ttc>Gtc	p.F402V		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	402					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GATGGCAGGAAATGGAACTGG	0.627000														140			26		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151263273	151263273	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151263273G>A	uc001exq.3	+	8	3400	c.3302G>A	c.(3301-3303)aGg>aAg	p.R1101K	ZNF687_uc009wmo.3_Missense_Mutation_p.R1101K|ZNF687_uc009wmp.3_3'UTR	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	1101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCCCCAGGGGCGGACCT	0.627000														232			42		0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59730276	59730276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59730276G>A	uc001xdz.1	+	1	206	c.81G>A	c.(79-81)acG>acA	p.T27T	DAAM1_uc001xea.1_Silent_p.T27T|DAAM1_uc001xeb.1_Silent_p.T27T|DAAM1_uc001xdy.3_Silent_p.T27T	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 1 (DAAM1), mRNA.	27					actin cytoskeleton organization	cytoplasm|plasma membrane	Rho GTPase binding|actin binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CAGAAATCACGTATCGGCTGC	0.473000														130			30		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57776821	57776821	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57776821T>C	uc003hch.3	+	1	364	c.17T>C	c.(16-18)aTg>aCg	p.M6T	REST_uc003hci.3_Missense_Mutation_p.M6T|REST_uc003hcj.1_Missense_Mutation_p.M6T|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	6					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ACCCAGGTAATGGGGCAGTCT	0.448000														54			15		0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200544719	200544719	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200544719C>A	uc010ppk.1	-	22	4005	c.3566_splice	c.e22+1	p.R1189_splice	KIF14_uc010ppj.1_Splice_Site_p.R698_splice	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	1189	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TTGTCTTTACCTCCTTCTAGA	0.368000														74			18		3.52763e-06	3.73571e-06	1	1	0
UTP3	57050	broad.mit.edu	37	4	71555130	71555130	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71555130C>T	uc003hfo.3	+	0	935	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	246					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGAGCTGGAGCCATTGTTAGA	0.438000														129			36		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39322915	39322915	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39322915G>A	uc003gty.2	-	7	940	c.800C>T	c.(799-801)cCt>cTt	p.P267L	RFC1_uc003gtx.2_Missense_Mutation_p.P267L|RFC1_uc003gtz.2_Missense_Mutation_p.P151L	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	267					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACCTTTATGAGGATATTTATG	0.323000														52			9		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136602132	136602132	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136602132G>A	uc002tuw.3	-	15	2408	c.2332C>T	c.(2332-2334)Cat>Tat	p.H778Y		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	778					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GTGAGTCGATGAATAACTTTC	0.418000														73			35		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2147955	2147955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2147955C>T	uc002cos.1	-	30	10290	c.10081G>A	c.(10081-10083)Ggg>Agg	p.G3361R	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.G3361R|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3361					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCTGCTGCCCGGCAGGTGTG	0.657000														48			21		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129804999	129804999	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129804999C>T	uc001qfm.3	-	8	1386	c.1154G>A	c.(1153-1155)aGc>aAc	p.S385N	PRDM10_uc001qfj.3_Missense_Mutation_p.S299N|PRDM10_uc001qfk.3_Missense_Mutation_p.S299N|PRDM10_uc001qfl.3_Missense_Mutation_p.S299N|PRDM10_uc010sbx.2_Missense_Mutation_p.S299N|PRDM10_uc001qfn.3_Missense_Mutation_p.S385N|PRDM10_uc009zct.1_Missense_Mutation_p.S417N	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TACATACCTGCTAAACACATC	0.418000														177			43		0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62346472	62346472	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62346472G>A	uc001nto.2	-	4	873	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	241	Pro-rich.				mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCGAGTCCAGCGATGGAGAT	0.542000														78			16		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4445963	4445963	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4445963C>T	uc002fxz.4	-	20	3028	c.2966G>A	c.(2965-2967)cGc>cAc	p.R989H	MYBBP1A_uc002fyb.4_Missense_Mutation_p.R989H|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.R31H	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	989					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCTGTTGCGCTTGGTCAG	0.637000														206			42		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37479970	37479970	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37479970G>T	uc003jkv.3	+	7	779	c.721G>T	c.(721-723)Gga>Tga	p.G241*	WDR70_uc010iva.1_Nonsense_Mutation_p.G241*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	241										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGTAACACAGGAGACATGAT	0.348000														141			21		3.51602e-12	4.04451e-12	1	1	0
PEX5	5830	broad.mit.edu	37	12	7361053	7361053	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7361053G>T	uc009zfu.2	+	14	1762	c.1182_splice	c.e14-1	p.R394_splice	PEX5_uc001qsw.3_Splice_Site_p.R394_splice|PEX5_uc010sgc.2_Splice_Site_p.R409_splice|PEX5_uc001qsu.3_Splice_Site_p.R357_splice|PEX5_uc010sgd.2_Splice_Site_p.R415_splice|PEX5_uc001qsv.3_Splice_Site_p.R386_splice	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	394					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GATCAAACAGGTGTCTGGAGC	0.537000														65			16		6.31663e-08	6.86475e-08	1	1	0
PLXNA4	91584	broad.mit.edu	37	7	132174152	132174152	+	Missense_Mutation	SNP	C	T	T	rs142997259	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132174152C>T	uc003vra.4	-	2	1499	c.1270G>A	c.(1270-1272)Gtc>Atc	p.V424I	PLXNA4_uc003vrc.2_Missense_Mutation_p.V424I|PLXNA4_uc003vrb.3_Missense_Mutation_p.V424I	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	424	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCCGTGAAGACGGGAATTCCA	0.502000														82			18		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3173962	3173962	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:3173962G>T	uc002klp.3	-	7	1482	c.1148C>A	c.(1147-1149)gCt>gAt	p.A383D	MYOM1_uc002klq.3_Missense_Mutation_p.A383D	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	383						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGAAGCCCCAGCGTGGAAGCG	0.408000														72			10		0.000978159	0.0010017	1	1	0
EMR2	30817	broad.mit.edu	37	19	14863237	14863237	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14863237G>T	uc002mzp.1	-	14	2148	c.1692C>A	c.(1690-1692)atC>atA	p.I564I	EMR2_uc010dzs.1_Silent_p.I23I|EMR2_uc010xnw.1_Silent_p.I506I|EMR2_uc002mzo.1_Silent_p.I553I|EMR2_uc002mzq.1_Silent_p.I504I|EMR2_uc002mzr.1_Silent_p.I515I|EMR2_uc002mzs.1_Silent_p.I422I|EMR2_uc002mzt.1_Silent_p.I460I|EMR2_uc002mzu.1_Silent_p.I471I|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	564					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TGGTGTTCTGGATGGCTTTAC	0.572000														115			23		9.95505e-16	1.18146e-15	1	1	0
C5	727	broad.mit.edu	37	9	123751958	123751958	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123751958G>A	uc004bkv.3	-	23	3072	c.3042C>T	c.(3040-3042)agC>agT	p.S1014S		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1014					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CTGGGACAACGCTCATCAGCT	0.433000														69			16		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185134	130185134	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:130185134C>A	uc009zyl.1	-	1	517	c.189G>T	c.(187-189)aaG>aaT	p.K63N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	63						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTTGGCCTCCTTCAGGAAGA	0.552000														75			20		7.45023e-12	8.53574e-12	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354819	45354819	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45354819G>A	uc002xsl.3	+	1	1241	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	382						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CAGATCTGGAGACCCCTCAGC	0.637000														140			23		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75520113	75520113	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520113G>A	uc001juw.3	+	5	999	c.819G>A	c.(817-819)ccG>ccA	p.P273P	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Silent_p.P131P|SEC24C_uc001jux.3_Silent_p.P273P|SEC24C_uc010qko.2_Silent_p.P131P|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	273					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCACTCCCCGCAGCAGCCAG	0.557000														216			31		0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17581359	17581359	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17581359C>T	uc002ngu.1	+	0	60	c.10C>T	c.(10-12)Ccg>Tcg	p.P4S	SLC27A1_uc002ngt.1_5'UTR|SLC27A1_uc010xpp.1_5'UTR	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	4					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GATGCGGGCTCCGGGTGCGGG	0.771000														19			4		0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57493091	57493091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57493091C>T	uc009zpg.3	-	15	2026	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	STAT6_uc009zpe.3_Missense_Mutation_p.R626Q|STAT6_uc001sna.3_Missense_Mutation_p.R626Q|STAT6_uc009zpf.3_Missense_Mutation_p.R626Q|STAT6_uc010srb.2_Missense_Mutation_p.R516Q|STAT6_uc010src.2_Missense_Mutation_p.R516Q|STAT6_uc010srd.2_Missense_Mutation_p.R516Q	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	626					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GTAGTGGCTCCGGAAAGCCTC	0.587000														164			49		0	0	1	0	0
CGN	57530	broad.mit.edu	37	1	151493070	151493070	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151493070A>G	uc009wmw.3	+	5	1189	c.1045_splice	c.e5-2	p.M349_splice		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	343	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TATCTCTGGCAGATGGTTTCT	0.552000														47			16		0	0	1	0	0
CES5A	221223	broad.mit.edu	37	16	55905609	55905609	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55905609G>A	uc021tir.1	-	3	578	c.432C>T	c.(430-432)ttC>ttT	p.F144F	CES5A_uc002eip.2_Silent_p.F115F|CES5A_uc002eio.2_Silent_p.F115F|CES5A_uc002eiq.2_5'UTR|CES5A_uc002eir.2_Silent_p.F9F	NM_001190158	NP_001177087	Q6NT32	EST5A_HUMAN	Homo sapiens carboxylesterase 5A (CES5A), transcript variant 3, mRNA.	115						extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.W143L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTGACACTCCGAATTTCGGGT	0.537000														82			21		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184367459	184367459	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184367459C>T	uc003ivp.1	+	2	784	c.622C>T	c.(622-624)Cga>Tga	p.R208*	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	208	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGGAGATCGATCTGTTTC	0.507000														125			6		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206659634	206659634	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206659634G>A	uc002vaw.3	+	16	3439	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	NRP2_uc002vax.3_Missense_Mutation_p.C878Y|NRP2_uc002vay.3_Missense_Mutation_p.C861Y	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	883					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GGGGCCACCTGTGCAGGCCTC	0.592000														190			35		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73560573	73560573	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73560573G>A	uc002joh.3	+	9	1175	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	LLGL2_uc002jog.1_Missense_Mutation_p.A341T|LLGL2_uc010dgf.1_Missense_Mutation_p.A341T|LLGL2_uc002joi.3_Missense_Mutation_p.A341T|LLGL2_uc010dgg.2_Missense_Mutation_p.A341T|LLGL2_uc002joj.3_Missense_Mutation_p.A330T|LLGL2_uc010wsd.2_Silent_p.R21R|AF289551_uc002jok.3_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	341					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTCACAGAGGCAGACCCTGC	0.622000														161			28		0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885770	77885770	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:77885770G>A	uc003ugx.3	-	9	1791	c.1537C>T	c.(1537-1539)Ccc>Tcc	p.P513S	MAGI2_uc003ugy.3_Missense_Mutation_p.P513S|MAGI2_uc010ldx.1_Missense_Mutation_p.P122S|MAGI2_uc010ldy.1_Missense_Mutation_p.P122S|MAGI2_uc011kgr.1_Missense_Mutation_p.P345S|MAGI2_uc011kgs.1_Missense_Mutation_p.P350S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	513						cell junction|synapse|synaptosome	phosphatase binding	p.L512F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GGATCAAAGGGCAAAGGGTAG	0.488000														52			5		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27105787	27105787	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27105787A>T	uc001bmv.1	+	19	5771	c.5398A>T	c.(5398-5400)Aat>Tat	p.N1800Y	ARID1A_uc001bmu.1_Missense_Mutation_p.N1583Y|ARID1A_uc001bmx.1_Missense_Mutation_p.N646Y|ARID1A_uc009vsm.1_Missense_Mutation_p.N128Y|ARID1A_uc009vsn.1_Missense_Mutation_p.N42Y	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1800					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCTTCAGAGAATAGTGAGGA	0.433000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									118			16		0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149310693	149310693	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149310693A>C	uc003lrg.4	-	3	876	c.756T>G	c.(754-756)ctT>ctG	p.L252L	PDE6A_uc021yfs.1_Silent_p.L171L	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	252					GMP metabolic process|cytosolic calcium ion homeostasis|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGATGTCCGTAAGTTCTTCAA	0.443000														108			18		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695928	40695928	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40695928C>T	uc002hzv.3	+	5	2244	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	635						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GAGGCCGAGGCCGATTTCTAC	0.642000														47			5		0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69420280	69420280	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69420280C>T	uc004dxx.1	+	3	540	c.443C>T	c.(442-444)cCa>cTa	p.P148L		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	148					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTTTGGATCCCAATTGTGCGA	0.408000														63			17		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124211723	124211723	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124211723G>T	uc003ehg.3	+	31	4947	c.4820G>T	c.(4819-4821)aGt>aTt	p.S1607I	KALRN_uc010hrv.1_Missense_Mutation_p.S1598I|KALRN_uc003ehf.1_Missense_Mutation_p.S1607I|KALRN_uc011bjy.1_Missense_Mutation_p.S1598I	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	1607					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						AGGAACAATAGTAAGAGGTAA	0.507000														92			26		1.1804e-14	1.38988e-14	1	1	0
CEP152	22995	broad.mit.edu	37	15	49081138	49081138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49081138C>T	uc001zwz.3	-	8	1226	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	CEP152_uc001zwy.3_Missense_Mutation_p.D345N|CEP152_uc001zxa.2_Missense_Mutation_p.D252N	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	345					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGATGAAGGTCCACCAGCTGC	0.408000														158			27		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164789358	164789358	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164789358C>T	uc001gct.3	+	6	1510	c.1047C>T	c.(1045-1047)agC>agT	p.S349S	PBX1_uc010pku.2_Silent_p.S349S|PBX1_uc001gcs.3_Intron|PBX1_uc010pkv.2_Silent_p.S266S|PBX1_uc010pkw.1_Silent_p.S239S	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	349					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGTTCATGAGCGTGCAGTCAC	0.483000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									146			15		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93521533	93521533	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:93521533G>A	uc002bsp.3	+	20	3222	c.2647G>A	c.(2647-2649)Gtc>Atc	p.V883I	CHD2_uc002bso.1_Missense_Mutation_p.V883I|CHD2_uc010bog.1_Silent_p.S156S|CHD2_uc010boh.1_Missense_Mutation_p.V77I	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	883	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACACAGTCGTCATCTTTGA	0.493000														134			33		0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56519606	56519606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56519606C>T	uc002ejd.2	-	15	2189	c.1955G>A	c.(1954-1956)aGa>aAa	p.R652K		NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	652					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGCAAGTCTCTATTAAGGTC	0.368000									Bardet-Biedl syndrome					138			39		0	0	1	0	0
ARHGEF18	23370	broad.mit.edu	37	19	7509198	7509198	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7509198G>A	uc002mgi.3	+	3	1158	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R144H|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R144H|ARHGEF18_uc002mgj.1_5'Flank	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	302	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|regulation of cell shape|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCCATTGGCCGCCTCTTCCCA	0.647000														123			22		0	0	1	0	0
SESN2	83667	broad.mit.edu	37	1	28607282	28607282	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28607282C>T	uc001bps.3	+	9	1808	c.1412C>T	c.(1411-1413)gCc>gTc	p.A471V		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	471					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGTACGCCCTCCGTGCC	0.617000														164			19		0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17141433	17141433	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17141433C>T	uc001mmq.4	-	14	2811	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.A536T|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	916					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.A916S(2)|p.A916T(2)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CAGTTTGGGGCGCTTGCTAAT	0.363000														99			18		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449311	104449311	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104449311G>T	uc004bbp.2	-	1	1472	c.871C>A	c.(871-873)Ctt>Att	p.L291I	GRIN3A_uc004bbq.1_Missense_Mutation_p.L291I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	291					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATAGAACCAAGGTGGAACTTG	0.483000														150			26		2.50493e-22	3.08673e-22	1	1	0
OR2F2	135948	broad.mit.edu	37	7	143632519	143632519	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143632519A>G	uc011ktv.2	+	0	194	c.194A>G	c.(193-195)aAc>aGc	p.N65S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TTTCTCACCAACCTCTCCCTT	0.507000														362			58		0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978167	247978167	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247978167A>C	uc001idm.1	-	0	865	c.865T>G	c.(865-867)Ttg>Gtg	p.L289V		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTGTTTCTCAAACTGTATATA	0.393000														63			11		0	0	1	0	0
SLC1A1	6505	broad.mit.edu	37	9	4576049	4576049	+	Silent	SNP	C	T	T	rs137855083		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576049C>T	uc003zij.2	+	8	1177	c.924C>T	c.(922-924)gtC>gtT	p.V308V	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	308					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	ATTTCATAGTCGTACGAAAGA	0.443000														67			15		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19283107	19283107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283107C>T	uc002gvn.3	+	2	631	c.245C>T	c.(244-246)gCc>gTc	p.A82V	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Intron|MAPK7_uc002gvq.3_Missense_Mutation_p.A82V|MAPK7_uc002gvp.3_Missense_Mutation_p.A82V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	82	Protein kinase.|Required for binding to MAP2K5 (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CAGCAGGTGGCCATCAAGAAG	0.522000														167			18		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26165028	26165028	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26165028C>A	uc003abz.1	+	3	1395	c.1145C>A	c.(1144-1146)aCt>aAt	p.T382N	MYO18B_uc003aca.1_Missense_Mutation_p.T263N|MYO18B_uc010guy.1_Missense_Mutation_p.T263N|MYO18B_uc010guz.1_Missense_Mutation_p.T263N|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	382						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGGAGCACGACTGGGAAGGCA	0.587000														43			11		3.86212e-05	4.026e-05	1	1	0
ZNF430	80264	broad.mit.edu	37	19	21205649	21205649	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21205649G>A	uc002npj.3	+	1	239	c.58G>A	c.(58-60)Gct>Act	p.A20T	ZNF430_uc002npk.3_Missense_Mutation_p.A20T	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						ATGCCCTGGGGCTGACAGGAA	0.443000														129			9		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056307	102056307	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102056307G>T	uc001tii.3	+	18	2269	c.2129G>T	c.(2128-2130)aGg>aTg	p.R710M	MYBPC1_uc001tig.3_Missense_Mutation_p.R735M|MYBPC1_uc010svr.2_Missense_Mutation_p.R710M|MYBPC1_uc010svs.2_Missense_Mutation_p.R710M|MYBPC1_uc001tij.3_Missense_Mutation_p.R710M|MYBPC1_uc010svt.2_Missense_Mutation_p.R698M|MYBPC1_uc010svu.2_Missense_Mutation_p.R691M|MYBPC1_uc001tik.3_Missense_Mutation_p.R684M|MYBPC1_uc001tih.3_Missense_Mutation_p.R735M|MYBPC1_uc010svq.2_Missense_Mutation_p.R697M	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	710	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ATGCCCTCCAGGCCTTTTGTT	0.473000														113			25		1.5548e-18	1.87917e-18	1	1	0
PCYOX1	51449	broad.mit.edu	37	2	70502729	70502729	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70502729G>T	uc002sgn.4	+	4	856	c.790G>T	c.(790-792)Gca>Tca	p.A264S	PCYOX1_uc010fdo.3_Missense_Mutation_p.A187S|PCYOX1_uc010yqu.2_Missense_Mutation_p.A246S	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	264					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						GCTTCTGCAGGCATCCAAAAG	0.438000														90			35		1.36161e-19	1.65525e-19	1	1	0
SIGLEC1	6614	broad.mit.edu	37	20	3673242	3673242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3673242G>A	uc002wja.3	-	14	3956	c.3956C>T	c.(3955-3957)gCa>gTa	p.A1319V	SIGLEC1_uc002wiz.4_Missense_Mutation_p.A1319V|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1319	Ig-like C2-type 13.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTAGGCGCCTGCATGAGCCCG	0.657000														63			15		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6578436	6578436	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6578436C>T	uc003gjf.1	+	1	306	c.270C>T	c.(268-270)gaC>gaT	p.D90D	MAN2B2_uc003gje.1_Silent_p.D90D|MAN2B2_uc011bwf.1_Silent_p.D90D	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	90					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCGCCTCGGACCAGCAGAAAT	0.597000														180			28		0	0	1	0	0
HHEX	3087	broad.mit.edu	37	10	94452255	94452255	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94452255G>A	uc001kid.3	+	1	555	c.492G>A	c.(490-492)ccG>ccA	p.P164P		NM_002729	NP_002720	Q03014	HHEX_HUMAN	Homo sapiens hematopoietically expressed homeobox (HHEX), mRNA.	164					B cell differentiation|DNA conformation change|Wnt receptor signaling pathway|anterior/posterior pattern formation|cell cycle|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization to nucleus	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|TBP-class protein binding|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						ATCTCTCTCCGCCCGAGAGGA	0.607000														127			23		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305593	43305593	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305593G>A	uc003oux.3	-	9	6221	c.6143C>T	c.(6142-6144)tCt>tTt	p.S2048F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2048					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGTGATACAGAATTTTCTTC	0.468000														88			18		0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382753	22382753	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22382753A>G	uc001yuc.1	+	6	1262	c.281A>G	c.(280-282)tAc>tGc	p.Y94C	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.Y94C	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTAATCTCCTACAGAGGCTGC	0.502000														145			20		0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27528685	27528685	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27528685G>T	uc002rjo.3	+	5	1146	c.843_splice	c.e5+1	p.Q281_splice	TRIM54_uc002rjn.3_Splice_Site_p.Q323_splice	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	281	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTATCTCCAGGTGGGCTCTA	0.607000														29			6		2.7689e-08	3.02839e-08	1	1	0
TUBB2B	347733	broad.mit.edu	37	6	3227752	3227752	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3227752G>A	uc003mvg.3	-	0	217	c.26C>T	c.(25-27)gCg>gTg	p.A9V	AK096219_uc003mvi.1_5'Flank	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.	9					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GCACTGGCCCGCCTGGATGTG	0.726000														102			23		0	0	1	0	0
ATP1A4	480	broad.mit.edu	37	1	160141048	160141048	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160141048T>C	uc001fve.4	+	10	1978	c.1499T>C	c.(1498-1500)aTc>aCc	p.I500T	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.I3T	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	500					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TAGATGTCCATCCACCTTCGG	0.507000														171			54		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799202	212799202	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212799202C>T	uc010pth.1	-	0		c.912G>A			FAM71A_uc001hjk.3_Missense_Mutation_p.A328V			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GGCAACATGGCCCTTGCAGGC	0.617000														91			31		0	0	1	0	0
RHOD	29984	broad.mit.edu	37	11	66834227	66834227	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66834227G>A	uc001ojv.3	+	2	324	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	80					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						GACTATGACCGCCTGCGGCCC	0.592000														215			53		0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220088899	220088899	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220088899G>A	uc002vke.1	-	7	1380	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.D398D	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	398					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACACATCTTCGTCATAAATGG	0.567000														424			88		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456819	179456819	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179456819C>T	uc021vsy.1	-	250	52333	c.52108G>A	c.(52108-52110)Gct>Act	p.A17370T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11065T|TTN_uc021vta.1_Missense_Mutation_p.A10998T|TTN_uc021vtb.1_Missense_Mutation_p.A10873T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18297	Fibronectin type-III 26.						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)			AGATGCTTAGCGAAGTGACTC	0.473000														54			14		0	0	1	0	0
TMEM87A	25963	broad.mit.edu	37	15	42521011	42521011	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42521011A>C	uc021sjr.1	-	12	1298	c.1139T>G	c.(1138-1140)aTt>aGt	p.I380S		NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	380						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGTCAGGCTAATAAATATGTG	0.383000														89			17		0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181132	19181132	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19181132C>T	uc001bba.1	-	2	833	c.832G>A	c.(832-834)Gac>Aac	p.D278N		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	278					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGGGTCAGGTCGGGCGAGAAC	0.632000														98			7		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959914	20959914	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20959914C>T	uc010vbe.2	-	56	11234	c.11234G>A	c.(11233-11235)cGt>cAt	p.R3745H	DNAH3_uc010vbd.2_Missense_Mutation_p.R1180H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3745					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGCAGGAGACGCCGGTCTTT	0.517000														54			14		0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56651552	56651552	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56651552C>A	uc010dcz.2	-	22	3635	c.3517G>T	c.(3517-3519)Gac>Tac	p.D1173Y	TEX14_uc002iwr.2_Missense_Mutation_p.D1167Y|TEX14_uc002iws.2_Missense_Mutation_p.D1127Y|TEX14_uc010dda.2_Missense_Mutation_p.D907Y	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	1173						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCATACATGTCTTTCTCTTTC	0.353000														69			10		1.33987e-11	1.52969e-11	1	1	0
SEC23IP	11196	broad.mit.edu	37	10	121663749	121663749	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121663749G>A	uc001leu.2	+	3	1271	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	SEC23IP_uc010qtc.2_Missense_Mutation_p.R143Q	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	354	Interaction with SEC23A.				Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACAGATAGTCGATTTATTCCC	0.423000														79			27		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8950933	8950933	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8950933G>T	uc001mhb.4	-	2	439	c.315C>A	c.(313-315)gcC>gcA	p.A105A	C11orf16_uc001mhc.4_Silent_p.A105A	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	105								p.K104N(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CCTCGGGAGTGGCCTTTATTT	0.572000														94			7		0.0381472	0.038366	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60903983	60903983	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60903983C>T	uc002ycq.3	-	33	4431	c.4364G>A	c.(4363-4365)gGc>gAc	p.G1455D	LAMA5_uc021wfw.1_Missense_Mutation_p.G1455D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1455	Laminin EGF-like 12.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACTGGCCCCCGAAGGG	0.627000														144			29		0	0	1	0	0
SMEK2	57223	broad.mit.edu	37	2	55825881	55825881	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55825881T>C	uc002rzc.3	-	3	1284	c.592A>G	c.(592-594)Att>Gtt	p.I198V	SMEK2_uc002rzb.3_Missense_Mutation_p.I198V|SMEK2_uc002rzd.3_Missense_Mutation_p.I198V|SMEK2_uc002rza.3_Missense_Mutation_p.I74V	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	198						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATTCCTCTAATAATTTCATAC	0.383000														85			30		0	0	1	0	0
FCN1	2219	broad.mit.edu	37	9	137801699	137801699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137801699G>A	uc004cfi.3	-	8	1015	c.926C>T	c.(925-927)gCg>gTg	p.A309V		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	309	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.A309A(1)|p.A308V(1)		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)		GTACCCCTTCGCCGCACTCCA	0.577000														160			38		0	0	1	0	0
WDR72	256764	broad.mit.edu	37	15	53815426	53815426	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:53815426G>A	uc002acj.2	-	18	3284	c.3242C>T	c.(3241-3243)tCt>tTt	p.S1081F	WDR72_uc010bfh.1_Non-coding_Transcript	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	1081										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGACTCTCAGACTCTTCCAA	0.468000														310			55		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181741352	181741352	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181741352C>T	uc009wxt.3	+	36	5319	c.5124C>T	c.(5122-5124)ttC>ttT	p.F1708F	CACNA1E_uc001gow.3_Silent_p.F1708F|CACNA1E_uc009wxs.3_Silent_p.F1689F|CACNA1E_uc001gox.1_Silent_p.F934F	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1708					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCTTCATCTTCTTCTGCTCCT	0.537000														230			80		0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25917918	25917918	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25917918C>T	uc010crg.3	+	6	1159	c.714C>T	c.(712-714)tgC>tgT	p.C238C	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Silent_p.C40C	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	374					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCAAGCATTGCAGGTGATGGG	0.522000														30			7		0	0	1	0	0
CES3	23491	broad.mit.edu	37	16	67006910	67006910	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67006910G>A	uc002eqt.3	+	12	1753	c.1674G>A	c.(1672-1674)tgG>tgA	p.W558*	CES3_uc010cdz.3_Nonsense_Mutation_p.W555*|CES3_uc010viw.2_Nonsense_Mutation_p.W197*	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	558						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		TACAACAGTGGCACCAGAAGC	0.577000														120			12		0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216251446	216251446	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216251446C>T	uc002vfa.3	-	27	4844	c.4578G>A	c.(4576-4578)gaG>gaA	p.E1526E	FN1_uc002vfc.3_Silent_p.E1435E|FN1_uc002vfe.3_Silent_p.E1435E|FN1_uc002vff.3_Silent_p.E1435E|FN1_uc002vfg.3_Silent_p.E1435E|FN1_uc002vfh.3_Silent_p.E1435E|FN1_uc002vfi.3_Silent_p.E1526E|FN1_uc002vfj.3_Silent_p.E1526E|FN1_uc002vfb.3_Silent_p.E1435E|FN1_uc002vez.3_5'UTR|FN1_uc010zjp.2_Silent_p.E153E	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	1525	Cell-attachment.|Fibronectin type-III 10.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGGACTTTCCTCTCTGCCAT	0.468000														98			7		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618157	52618157	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52618157A>C	uc002pym.3	-	3	2543	c.2260T>G	c.(2260-2262)Ttt>Gtt	p.F754V	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	754					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGACAAATAAAAGATTTCCCA	0.408000														105			29		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135292055	135292055	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135292055C>T	uc003vsw.3	+	21	3162	c.3131C>T	c.(3130-3132)aCg>aTg	p.T1044M		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1044					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAGAAAGGAACGGAAGGGAGA	0.463000														101			10		0	0	1	0	0
CLIP3	25999	broad.mit.edu	37	19	36507083	36507083	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36507083G>A	uc010eeq.2	-	12	1935	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	ALKBH6_uc002ocv.1_5'Flank|ALKBH6_uc002ocw.1_5'Flank|ALKBH6_uc002ocx.1_5'Flank|ALKBH6_uc010eeo.1_5'Flank|ALKBH6_uc010eep.1_5'Flank|BC071809_uc002ocy.3_Intron|CLIP3_uc002ocz.2_Silent_p.L541L	NM_001199570	NP_001186499	Q96DZ5	CLIP3_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 3 (CLIP3), transcript variant 1, mRNA.	541	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	Golgi stack|early endosome membrane|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCCGCCCTCAGCATCCAGGGG	0.607000														70			14		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93768637	93768637	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93768637C>T	uc001khr.3	+	26	3963	c.3865C>T	c.(3865-3867)Ctg>Ttg	p.L1289L		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1289	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCATGGAATTCTGTGTGATGA	0.299000														55			14		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24568398	24568398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24568398G>A	uc001wlt.3	+	4	937	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Missense_Mutation_p.A269T|PCK2_uc010tnw.2_Missense_Mutation_p.A135T|PCK2_uc010ald.2_Missense_Mutation_p.A121T|PCK2_uc010ale.2_Intron|PCK2_uc010tnx.2_Missense_Mutation_p.A135T|PCK2_uc001wlu.4_Missense_Mutation_p.A135T	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	269					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CCTACGCATCGCCTCTCGGCT	0.672000														136			14		0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129784704	129784704	+	Silent	SNP	C	T	T	rs147190509	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129784704C>T	uc001qfm.3	-	17	2980	c.2748G>A	c.(2746-2748)acG>acA	p.T916T	PRDM10_uc001qfj.3_Silent_p.T830T|PRDM10_uc001qfk.3_Silent_p.T826T|PRDM10_uc001qfl.3_Silent_p.T830T|PRDM10_uc010sbx.2_Silent_p.T826T|PRDM10_uc001qfn.3_Silent_p.T912T|PRDM10_uc009zcs.1_Silent_p.T99T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	916	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCCCTTGTGGCGTTCGGTAGT	0.557000														389			78		0	0	1	0	0
OR10J5	127385	broad.mit.edu	37	1	159505736	159505736	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159505736C>T	uc010piw.2	-	0	62	c.62G>A	c.(61-63)gGa>gAa	p.G21E		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					CTGATGCTTTCCAAAGCTAGA	0.368000														141			27		0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777738	62777738	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62777738C>T	uc001src.2	+	9	1282	c.1207C>T	c.(1207-1209)Cca>Tca	p.P403S	USP15_uc001srb.2_Missense_Mutation_p.P374S	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	403					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGGAAAAAACCATATATACA	0.338000														76			9		0	0	1	0	0
RNASE13	440163	broad.mit.edu	37	14	21502136	21502136	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21502136C>A	uc021rot.1	-	0	312	c.312G>T	c.(310-312)caG>caT	p.Q104H	NDRG2_uc010tll.2_Intron|RNASE13_uc001vzj.3_Missense_Mutation_p.Q104H	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	Homo sapiens ribonuclease, RNase A family, 13 (non-active) (RNASE13), mRNA.	104						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GGAGGGAATCCTGGGTGAGTG	0.498000														199			16		0.00400662	0.0040779	1	1	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216590	26216590	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216590C>T	uc003ngz.2	-	0	283	c.282G>A	c.(280-282)gaG>gaA	p.E94E	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	94					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGGTCTGGATCTCCCTGGAGG	0.562000														255			67		0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202339474	202339474	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202339474C>T	uc002uyd.4	+	5	785	c.420C>T	c.(418-420)gcC>gcT	p.A140A	STRADB_uc021vvb.1_Silent_p.A140A	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN	Homo sapiens STE20-related kinase adaptor beta (STRADB), transcript variant 1, mRNA.	140	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CATTTATGGCCTATGGTAAGA	0.343000														93			33		0	0	1	0	0
FAM74A3	728495	broad.mit.edu	37	9	40716167	40716167	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40716167C>T	uc010mmk.2	+	0		c.644C>T								Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATGGAGAGAGCTCAAAGGCTG	0.488000														109			9		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599490	29599490	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29599490A>G	uc001usl.4	+	0	743	c.685A>G	c.(685-687)Aca>Gca	p.T229A		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	219						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCCACAGAAGACATTGCCAGA	0.592000														105			30		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55240761	55240761	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:55240761C>T	uc003tqk.3	+	16	2251	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	EGFR_uc022adm.1_Nonsense_Mutation_p.R669*|EGFR_uc010kzg.2_Nonsense_Mutation_p.R624*|EGFR_uc022adn.1_Nonsense_Mutation_p.R624*|EGFR_uc011kco.2_Nonsense_Mutation_p.R616*	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	669					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R669*(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTCTTCATGCGAAGGCGCCA	0.667000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				186			35		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168299002	168299002	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168299002G>T	uc021zik.1	+	10	1631	c.1312G>T	c.(1312-1314)Gaa>Taa	p.E438*	MLLT4_uc003qwb.1_Nonsense_Mutation_p.E463*|MLLT4_uc003qwc.2_Nonsense_Mutation_p.E479*|MLLT4_uc021zij.1_Nonsense_Mutation_p.E463*|MLLT4_uc003qwf.3_Nonsense_Mutation_p.E164*|MLLT4_uc021zim.1_Nonsense_Mutation_p.E25*	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	479	FHA.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.T437A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCGCATCTCAGAAACCACCAT	0.517000			T	MLL	AL									82			5		0.000602214	0.000618135	1	1	0
CTSE	1510	broad.mit.edu	37	1	206319192	206319192	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206319192C>A	uc001hdu.3	+	2	435	c.317C>A	c.(316-318)tCt>tAt	p.S106Y	CTSE_uc001hdv.3_Missense_Mutation_p.S106Y|CTSE_uc010prs.2_Missense_Mutation_p.S31Y	NM_001910	NP_001901	P14091	CATE_HUMAN	Homo sapiens cathepsin E (CTSE), transcript variant 1, mRNA.	106					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TGGGTCCCCTCTGTGTACTGC	0.582000														109			37		4.11147e-13	4.78056e-13	1	1	0
USP11	8237	broad.mit.edu	37	X	47103898	47103898	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47103898C>T	uc004dhp.3	+	14	1920	c.1920_splice	c.e14-1	p.S640_splice	USP11_uc004dhq.3_Splice_Site_p.S367_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	640					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTGTTGCAGACGCTACGTGAC	0.542000														76			10		0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58538164	58538164	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58538164G>A	uc002enm.3	+	4	731	c.390G>A	c.(388-390)tcG>tcA	p.S130S	NDRG4_uc002enk.3_Silent_p.S110S|NDRG4_uc010vif.2_Silent_p.S110S|NDRG4_uc002eno.3_Silent_p.S78S|NDRG4_uc010cdk.3_Silent_p.S96S|NDRG4_uc010vig.2_Silent_p.S108S|NDRG4_uc010vih.2_Silent_p.S23S|NDRG4_uc010vii.2_Silent_p.S96S|NDRG4_uc002enp.3_Silent_p.S78S|NDRG4_uc002enq.1_5'Flank	NM_001130487	NP_075061	Q9ULP0	NDRG4_HUMAN	Homo sapiens NDRG family member 4 (NDRG4), transcript variant 2, mRNA.	78					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TGGGGGCGTCGCAGTTTCCTC	0.597000														284			56		0	0	1	0	0
MTMR4	9110	broad.mit.edu	37	17	56584573	56584573	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56584573G>T	uc002iwj.2	-	8	883	c.773C>A	c.(772-774)gCc>gAc	p.A258D		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	258	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGGGCACAGGCTTTAGCAAT	0.617000														144			27		7.92952e-12	9.07913e-12	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83866927	83866927	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83866927C>T	uc011dyy.2	+	34	6864	c.6604C>T	c.(6604-6606)Cca>Tca	p.P2202S	DOPEY1_uc003pjs.1_Missense_Mutation_p.P2211S|DOPEY1_uc010kbl.1_Missense_Mutation_p.P2202S|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2211					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTCCGTTTGCCACAGGTGCC	0.393000														96			16		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72204965	72204965	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72204965G>T	uc001xms.3	+	20	5555	c.5194G>T	c.(5194-5196)Gac>Tac	p.D1732Y	SIPA1L1_uc001xmt.3_Missense_Mutation_p.D1711Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.D1710Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.D1731Y|SIPA1L1_uc010ttm.2_Missense_Mutation_p.D1185Y|DKFZp686G1344_uc021rvu.1_5'Flank	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1732					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CAGCAGTAAAGACTCCTCTCC	0.423000														77			15		7.93312e-07	8.47869e-07	1	1	0
SYT11	23208	broad.mit.edu	37	1	155851195	155851195	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155851195C>T	uc001fmg.3	+	3	1485	c.1192C>T	c.(1192-1194)Ctg>Ttg	p.L398L	SYT11_uc010pgq.2_Silent_p.L91L	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	Homo sapiens synaptotagmin XI (SYT11), mRNA.	398						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GAGGCTGATCCTGGGGGCACA	0.587000														409			16		0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109332674C>T	uc010sxh.1	-	8	836	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	Homo sapiens SV2 related protein homolog (rat) (SVOP), mRNA.	276						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TTTAAGGTGGCGATTGCCTTT	0.547000														270			65		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23895007	23895007	+	Missense_Mutation	SNP	G	A	A	rs121913644	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23895007G>A	uc001wjx.3	-	19	2289	c.2183C>T	c.(2182-2184)gCg>gTg	p.A728V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	728	Myosin head-like.		A -> V (in CMH1; in cis with M-606 gives a more severe phenotype).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGATGGCCGCTGGGTTCAG	0.552000														110			19		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212173	236212173	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212173G>A	uc001hxo.3	-	1	444	c.342C>T	c.(340-342)acC>acT	p.T114T	NID1_uc009xgd.3_Silent_p.T114T	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	114	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CCAGGCCATCGGTCGTGTCCA	0.572000														203			10		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78650217	78650217	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78650217G>A	uc011ccd.2	-	9	1174	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	CNOT6L_uc003hks.3_Missense_Mutation_p.A348V|CNOT6L_uc003hkt.1_Missense_Mutation_p.A191V	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	348					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TTTGTCTGCAGCATGAATAGG	0.393000														116			27		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706450	96706450	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706450G>A	uc010how.1	+	2	770	c.727G>A	c.(727-729)Gac>Aac	p.D243N	EPHA6_uc003drp.1_Missense_Mutation_p.D243N	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	148						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R243H(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TACAAAGATCGACACAATTGC	0.413000														280			57		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935280	56935280	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935280G>A	uc010ygl.1	+	4	1418	c.1253G>A	c.(1252-1254)aGc>aAc	p.S418N	ZNF583_uc002qnc.2_Missense_Mutation_p.S418N|ZNF583_uc010ygm.1_Missense_Mutation_p.S418N	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AAAGCCTTCAGCCAAATTGCA	0.408000														84			13		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518287	98518287	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518287G>A	uc003dte.3	-	15	2662	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	DCBLD2_uc003dtd.3_Missense_Mutation_p.P753S	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	753					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GTGCTCTGTGGCACCTGGTAC	0.507000														322			73		0	0	1	0	0
LCE1C	353133	broad.mit.edu	37	1	152777882	152777882	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777882G>A	uc021ozi.1	-	0	73	c.73C>T	c.(73-75)Ccc>Tcc	p.P25S	LCE1C_uc001fap.1_Missense_Mutation_p.P25S	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	25	Pro-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			tttggggTGgggcacttggga	0.637000														121			43		0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126691615	126691615	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:126691615T>C	uc009yak.3	-	4	559	c.272A>G	c.(271-273)gAc>gGc	p.D91G	CTBP2_uc009yal.3_Missense_Mutation_p.D91G|CTBP2_uc001lif.4_Missense_Mutation_p.D91G|CTBP2_uc001lih.4_Missense_Mutation_p.D91G|CTBP2_uc001lid.4_Missense_Mutation_p.D159G|CTBP2_uc001lie.4_Missense_Mutation_p.D631G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	91					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTCTCCAGGTCCTCCCTGGT	0.617000														152			9		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40653291	40653291	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40653291C>T	uc001rmg.4	+	12	1549	c.1428C>T	c.(1426-1428)tcC>tcT	p.S476S	LRRK2_uc001rmh.1_Silent_p.S98S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	476					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCAACACTTCCCTGGATATAA	0.418000														121			11		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156933060	156933060	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156933060A>C	uc001fqo.3	-	11	1995	c.955T>G	c.(955-957)Tct>Gct	p.S319A	ARHGEF11_uc001fqn.3_Missense_Mutation_p.S359A	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	319	RGSL.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTGGCCGAGACTTCAGTTTC	0.537000														46			6		0	0	1	0	0
C3orf72	401089	broad.mit.edu	37	3	138669383	138669383	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138669383C>T	uc003esx.1	+	2	628	c.497C>T	c.(496-498)gCt>gTt	p.A166V	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	166										large_intestine(1)|lung(3)	4						CGGTGCTTGGCTAGCAAAGGG	0.612000														160			38		0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164748559	164748559	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:164748559G>A	uc003fei.3	-	24	2896	c.2833C>T	c.(2833-2835)Cca>Tca	p.P945S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	945	Isomaltase.|P-type 2.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTGCATCTGGATAACAATTA	0.328000										HNSCC(35;0.089)				78			20		0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91461902	91461902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91461902G>A	uc010bnz.2	+	21	3332	c.3217G>A	c.(3217-3219)Gca>Aca	p.A1073T	MAN2A2_uc002bqc.3_Missense_Mutation_p.A1073T|MAN2A2_uc010uql.2_Missense_Mutation_p.A735T|MAN2A2_uc010uqm.2_Missense_Mutation_p.A652T|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	1073					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGCGGAGACCGCACTCATCTT	0.607000														68			12		0	0	1	0	0
WDR96	80217	broad.mit.edu	37	10	105927385	105927385	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105927385A>G	uc001kxw.3	-	21	2918	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	WDR96_uc009xxq.3_Silent_p.C242C|WDR96_uc001kxx.4_Silent_p.C935C	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN	Homo sapiens WD repeat domain 96 (WDR96), mRNA.	934										NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTACTTTAAGACACTCTGCTT	0.358000														48			13		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4796848	4796848	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4796848C>T	uc010vsl.2	+	20	2764	c.2520C>T	c.(2518-2520)ggC>ggT	p.G840G	MINK1_uc010vsk.2_Silent_p.G811G|MINK1_uc010vsm.2_Silent_p.G820G|MINK1_uc010vsn.2_Silent_p.G803G|MINK1_uc010vso.2_Silent_p.G748G|MINK1_uc010vsp.2_Silent_p.G301G	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	840					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						AGGAGGAAGGCGAAGGCGGGC	0.672000														89			29		0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1817158	1817158	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1817158T>C	uc010uvl.2	+	25	3217	c.3097T>C	c.(3097-3099)Tgg>Cgg	p.W1033R	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.W1032R|MAPK8IP3_uc002cml.3_Missense_Mutation_p.W1022R|MAPK8IP3_uc021tah.1_Missense_Mutation_p.W1026R	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	1032					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AGATGGCCAGTGGGATCTGAG	0.622000														265			66		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176178	140176178	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140176178G>A	uc003lhd.2	+	0	1735	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.P543P|PCDHAC2_uc011czy.2_Silent_p.P543P	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCGTGCCGCCTCTGGGCA	0.692000														295			64		0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44528125	44528125	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44528125C>T	uc002xqm.2	-	13	1930	c.1395G>A	c.(1393-1395)gtG>gtA	p.V465V	PLTP_uc002xql.2_Silent_p.V357V|PLTP_uc010zxj.2_Silent_p.V350V|PLTP_uc002xqq.2_Silent_p.V414V|PLTP_uc002xqn.2_Silent_p.V445V|PLTP_uc002xqo.2_Silent_p.V393V	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	445					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCACCTCATGCACAAAGTTGA	0.642000														171			36		0	0	1	0	0
TRAP1	10131	broad.mit.edu	37	16	3724437	3724437	+	Missense_Mutation	SNP	C	T	T	rs151069865		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3724437C>T	uc002cvt.4	-	8	1036	c.947G>A	c.(946-948)cGc>cAc	p.R316H	TRAP1_uc002cvs.3_Missense_Mutation_p.R107H|TRAP1_uc010uxf.2_Missense_Mutation_p.R263H	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	Homo sapiens TNF receptor-associated protein 1 (TRAP1), mRNA.	316					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				CGCGACGTAGCGGTAGAACTC	0.607000														107			12		0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499117	62499117	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62499117C>A	uc010deh.2	-	7	953	c.910G>T	c.(910-912)Gca>Tca	p.A304S	DDX5_uc002jek.2_Missense_Mutation_p.A304S|DDX5_uc002jej.2_Missense_Mutation_p.A199S|DDX5_uc010wqa.1_Missense_Mutation_p.A225S|MIR3064_uc021ubr.1_5'Flank|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_Missense_Mutation_p.A52S	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	304					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTTCAAGTGCACCAATGTTT	0.373000			T	ETV4	prostate									145			38		1.42033e-22	1.75151e-22	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79968343	79968343	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79968343G>T	uc004akr.3	+	53	7698	c.7438G>T	c.(7438-7440)Gat>Tat	p.D2480Y	VPS13A_uc004akp.4_Missense_Mutation_p.D2480Y|VPS13A_uc004akq.4_Missense_Mutation_p.D2480Y|VPS13A_uc004aks.3_Missense_Mutation_p.D2441Y	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2480					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						GATGCCTATAGATTTGGGGGA	0.279000														38			11		1.08611e-07	1.17606e-07	1	1	0
CFB	629	broad.mit.edu	37	6	31914967	31914967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31914967G>A	uc003nyj.4	+	2	760	c.482G>A	c.(481-483)gGa>gAa	p.G161E	CFB_uc011dor.2_Missense_Mutation_p.G663E|CFB_uc003nyi.2_Missense_Mutation_p.G161E	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	161					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGTGACAACGGAGGTGAGAAG	0.597000														154			39		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6452623	6452623	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6452623G>A	uc003sqa.3	-	11	1640	c.1470C>T	c.(1468-1470)ctC>ctT	p.L490L	DAGLB_uc003spy.3_Silent_p.L36L|DAGLB_uc003spz.3_Silent_p.L187L|DAGLB_uc011jwt.2_Silent_p.L304L|DAGLB_uc011jwu.2_Silent_p.L361L|DAGLB_uc003sqb.3_Silent_p.L209L|DAGLB_uc003sqc.3_Silent_p.L209L|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.L449L|DAGLB_uc011jww.1_Non-coding_Transcript	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	490					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCCCAGGACGAGTGACACGA	0.557000														57			9		0	0	1	0	0
TBX22	50945	broad.mit.edu	37	X	79286360	79286360	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79286360A>G	uc010nmg.1	+	8	1447	c.1313A>G	c.(1312-1314)aAt>aGt	p.N438S	TBX22_uc004edi.1_Missense_Mutation_p.N318S|TBX22_uc004edj.1_Missense_Mutation_p.N438S	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	438					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAAGCACCTAATTCTACCAAT	0.428000														142			48		0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140994195	140994195	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:140994195G>T	uc004fbt.3	+	3	1329	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	335							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTCCCCAGTCTCTTCTCC	0.458000										HNSCC(15;0.026)				269			84		1.8615e-32	2.35019e-32	1	1	0
LPO	4025	broad.mit.edu	37	17	56326965	56326965	+	Missense_Mutation	SNP	C	T	T	rs140216571		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56326965C>T	uc002ivt.3	+	5	798	c.482C>T	c.(481-483)gCg>gTg	p.A161V	LPO_uc010dco.2_Missense_Mutation_p.A161V|LPO_uc010wnr.1_Missense_Mutation_p.A78V|LPO_uc010wns.2_Missense_Mutation_p.A102V|LPO_uc010dcp.3_Missense_Mutation_p.A78V|LPO_uc010dcq.3_5'UTR|LPO_uc010dcr.3_5'Flank	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	161					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGGGCTCTGGCGCGCTGGCTG	0.716000														60			12		0	0	1	0	0
USP41	373856	broad.mit.edu	37	22	20721016	20721016	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20721016C>T	uc011ahq.1	-	5	576	c.510G>A	c.(508-510)aaG>aaA	p.K170K	USP41_uc011ahp.1_Silent_p.K62K					RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41;          EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41;											endometrium(1)|kidney(1)|lung(2)|skin(1)	5						AATGGGTCAGCTTCAAGACCT	0.483000														176			42		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139061	178139061	+	Nonstop_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139061C>A	uc003mjj.3	-	4	2016	c.1818G>T	c.(1816-1818)taG>taT	p.*606Y		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	0					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		AATCTACTTTCTAGGGGTCCT	0.348000														51			13		5.50884e-06	5.8131e-06	1	1	0
LMTK2	22853	broad.mit.edu	37	7	97823692	97823692	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:97823692C>T	uc003upd.2	+	10	4208	c.3915C>T	c.(3913-3915)agC>agT	p.S1305S		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1305					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					ACCTGCATAGCCTCAGCTCCG	0.632000														241			25		0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82065465	82065465	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:82065465C>T	uc003hmh.2	-	8	1187	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PRKG2_uc011ccf.1_5'UTR|PRKG2_uc011ccg.1_5'UTR|PRKG2_uc011cch.1_Missense_Mutation_p.G392S	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	392					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.G392C(3)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCAAATGTACCGACAGTTTGG	0.378000														133			6		0	0	1	0	0
GNB5	10681	broad.mit.edu	37	15	52425618	52425618	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52425618C>T	uc002abt.1	-	8	885	c.820G>A	c.(820-822)Gtg>Atg	p.V274M	GNB5_uc002abr.1_Missense_Mutation_p.V232M|GNB5_uc002abs.1_Missense_Mutation_p.V162M	NM_016194	NP_057278	O14775	GBB5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta 5 (GNB5), transcript variant 2, mRNA.	274						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		AAGGCCTGCACGCACTGGCCG	0.493000														138			21		0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29998237	29998237	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998237G>A	uc010bzm.2	+	14	2700	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.D769N|TAOK2_uc002dva.2_Missense_Mutation_p.D882N|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.D709N	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	882	Glu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GAGTCTTCTGGATGAGGAGTT	0.612000														99			30		0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59966089	59966089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:59966089C>T	uc002lil.3	+	27	3741	c.3526C>T	c.(3526-3528)Caa>Taa	p.Q1176*	KIAA1468_uc010xel.2_Nonsense_Mutation_p.Q1176*|KIAA1468_uc002lim.3_Nonsense_Mutation_p.Q854*	NM_020854	NP_065905	Q9P260	K1468_HUMAN	Homo sapiens KIAA1468 (KIAA1468), mRNA.	1176							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CCAAGAGCCTCAAGGGTAAGA	0.294000														33			12		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163088	141163088	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163088G>T	uc010hup.3	+	1	1908	c.1861G>T	c.(1861-1863)Gat>Tat	p.D621Y	ZBTB38_uc003etw.3_Missense_Mutation_p.D620Y|ZBTB38_uc010hun.3_Missense_Mutation_p.D617Y|ZBTB38_uc010huo.3_Missense_Mutation_p.D620Y|ZBTB38_uc003ety.3_Missense_Mutation_p.D620Y|ZBTB38_uc021xes.1_Missense_Mutation_p.D620Y	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	620					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GAATTTCCAAGATACTGTAAA	0.443000														137			28		1.17739e-12	1.36172e-12	1	1	0
DEFB119	245932	broad.mit.edu	37	20	29965236	29965236	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:29965236C>T	uc002wvt.3	-	1	188	c.68G>A	c.(67-69)cGc>cAc	p.R23H	DEFB119_uc002wvs.3_Silent_p.T36T	NM_153289	NP_695021	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 1, mRNA.	23					defense response to bacterium	extracellular region		p.T36T(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AAGGATGTGGCGTTTGCCTGC	0.433000														141			30		0	0	1	0	0
ZNF484	83744	broad.mit.edu	37	9	95609118	95609118	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95609118G>T	uc004asu.1	-	4	2100	c.1951C>A	c.(1951-1953)Ctc>Atc	p.L651I	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.L653I|ZNF484_uc004asv.1_Missense_Mutation_p.L615I|ZNF484_uc010mrb.1_Missense_Mutation_p.L615I	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TGTGTAAAGAGATTTGATCTG	0.423000														106			14		1.05317e-09	1.17384e-09	1	1	0
BDNF-AS	497258	broad.mit.edu	37	11	27528444	27528444	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:27528444G>T	uc009yip.3	+	1		c.47_splice	c.e1+1		LIN7C_uc001mrl.3_5'Flank|LIN7C_uc009yii.3_5'Flank|BDNF-AS_uc001mrn.3_Splice_Site|BDNF-AS_uc001mro.3_Splice_Site|BDNF-AS_uc001mrm.3_Splice_Site|BDNF-AS_uc009yiq.3_Splice_Site|BDNF-AS_uc001mrp.3_Splice_Site|BDNF-AS_uc009yij.3_Splice_Site|BDNF-AS_uc009yik.3_Splice_Site|BDNF-AS_uc009yil.3_Splice_Site|BDNF-AS_uc009yin.3_Splice_Site|BDNF-AS_uc009yio.3_Splice_Site|BDNF-AS_uc009yim.3_Splice_Site|BDNF-AS_uc009yir.3_Splice_Site|BDNF-AS_uc009yis.3_Splice_Site|BDNF-AS_uc009yiu.3_Splice_Site|BDNF-AS_uc009yix.3_Splice_Site|BDNF-AS_uc009yiy.3_Splice_Site|BDNF-AS_uc001mrq.4_Splice_Site|BDNF-AS_uc009yiw.3_Splice_Site|BDNF-AS_uc009yiz.3_Splice_Site|BDNF-AS_uc001mrr.4_Splice_Site|BDNF-AS_uc009yit.3_Splice_Site|BDNF-AS_uc009yiv.3_Splice_Site|BDNF-AS_uc009yja.3_Splice_Site|BDNF-AS_uc009yjb.3_Splice_Site					Homo sapiens BDNF antisense RNA 1 (non-protein coding) (BDNF-AS1), transcript variant BT2A, non-coding RNA.																		GCGGCCATCAGGGTAAGGGTA	0.652000														30			3		0.004672	0.00474578	1	1	0
RASAL2	9462	broad.mit.edu	37	1	178442331	178442331	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442331T>G	uc001glq.3	+	17	4564	c.3800T>G	c.(3799-3801)cTt>cGt	p.L1267R	RASAL2_uc001glr.3_Missense_Mutation_p.L1126R|RASAL2_uc009wxc.3_Silent_p.A650A	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1126					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCACCAAGCTTTCCATCACG	0.537000														122			49		0	0	1	0	0
GP6	51206	broad.mit.edu	37	19	55543732	55543732	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55543732G>A	uc002qik.3	-	2	128	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	GP6_uc002qil.3_Missense_Mutation_p.P34S|GP6_uc010esq.3_Missense_Mutation_p.P34S|RDH13_uc010esr.1_Intron	NM_016363	NP_057447	Q9HCN6	GPVI_HUMAN	Homo sapiens glycoprotein VI (platelet) (GP6), transcript variant 2, mRNA.	34	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AGGGAGCTGGGCAGAGCCTGG	0.706000														72			18		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118738814	118738814	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738814C>A	uc021pzk.1	-	1	562	c.64G>T	c.(64-66)Ggc>Tgc	p.G22C	KIAA1598_uc009xyw.3_Missense_Mutation_p.G22C|KIAA1598_uc001lcz.4_Missense_Mutation_p.G22C|KIAA1598_uc010qso.2_Intron|KIAA1598_uc010qsp.1_Missense_Mutation_p.G22C|KIAA1598_uc010qsq.1_5'UTR	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	22					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		TCATATTCGCCTATTGCTAAA	0.398000														77			17		0.000566183	0.000582251	1	1	0
RARS2	57038	broad.mit.edu	37	6	88240541	88240541	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88240541A>C	uc003pme.3	-	8	792	c.732T>G	c.(730-732)ttT>ttG	p.F244L	RARS2_uc003pmc.3_Missense_Mutation_p.F69L|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	244					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		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;0.0456)		TCAAGTCCCGAAATTTTTGCC	0.473000														129			27		0	0	1	0	0
BSX	390259	broad.mit.edu	37	11	122848534	122848534	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848534T>C	uc010rzs.2	-	2	525	c.525A>G	c.(523-525)gaA>gaG	p.E175E		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	175								p.D174D(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GTGCTTTGGGTTCGTCTTGGC	0.592000														106			30		0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680180	30680180	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680180G>A	uc002dzd.4	+	10	949	c.686G>A	c.(685-687)cGc>cAc	p.R229H	FBRS_uc002dzc.4_Missense_Mutation_p.R141H	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	229										ovary(1)	1			Colorectal(24;0.103)			CGCCTGCACCGCAGTCCTCTG	0.706000														22			5		0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26559594	26559594	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:26559594C>T	uc001isp.2	+	9	1504	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	GAD2_uc001isq.2_Missense_Mutation_p.A334V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	334					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTCGTGAGTGCCACAGCTGGA	0.458000														279			16		0	0	1	0	0
JAG2	3714	broad.mit.edu	37	14	105617706	105617706	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105617706C>T	uc001yqg.3	-	8	1585	c.1181G>A	c.(1180-1182)tGt>tAt	p.C394Y	JAG2_uc001yqf.3_5'UTR|JAG2_uc001yqh.3_Missense_Mutation_p.C394Y	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	394	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity	p.P393P(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACCGGCCGCACACGGGTTCGA	0.657000														70			14		0	0	1	0	0
ARHGEF19	128272	broad.mit.edu	37	1	16534248	16534248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16534248C>T	uc001ayc.1	-	3	856	c.719G>A	c.(718-720)cGa>cAa	p.R240Q	ARHGEF19_uc009voo.1_5'Flank	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 19 (ARHGEF19), mRNA.	240					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTACACTTCGAGCCTCCAT	0.672000														142			37		0	0	1	0	0
ERMAP	114625	broad.mit.edu	37	1	43296571	43296571	+	Missense_Mutation	SNP	G	A	A	rs146247630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43296571G>A	uc001cic.1	+	3	488	c.218G>A	c.(217-219)cGc>cAc	p.R73H	ERMAP_uc010ojw.1_Missense_Mutation_p.R134H|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.R73H|ERMAP_uc001cif.1_5'UTR	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	73	Ig-like V-type.					integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCGCAGCGCTCCCAGGCT	0.622000														47			10		0	0	1	0	0
ADARB2-AS1	642394	broad.mit.edu	37	10	1569013	1569013	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1569013G>A	uc001ign.3	+	0	189	c.46G>A	c.(46-48)Gca>Aca	p.A16T	ADARB2_uc009xhq.3_Intron					Homo sapiens ADARB2 antisense RNA 1 (non-protein coding) (ADARB2-AS1), non-coding RNA.																		CCTGACTCACGCACTTGGTGC	0.607000														96			22		0	0	1	0	0
TMED8	283578	broad.mit.edu	37	14	77812773	77812773	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77812773C>T	uc001xto.1	-	2	246	c.246G>A	c.(244-246)cgG>cgA	p.R82R	TMED8_uc001xtn.1_5'Flank	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	82					transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAGTTGCTTTCCGCAGATCTT	0.517000														149			30		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318679	3318679	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318679G>A	uc003ggw.3	+	1	1686	c.782G>A	c.(781-783)cGc>cAc	p.R261H	RGS12_uc003ggu.2_Missense_Mutation_p.R261H|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.R261H|RGS12_uc003ggx.1_Missense_Mutation_p.R261H	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	261	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCATGCGGCGCCTGCGGGCA	0.597000														136			41		0	0	1	0	0
ANXA1	301	broad.mit.edu	37	9	75775219	75775219	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:75775219T>C	uc004ajf.1	+	4	385	c.311T>C	c.(310-312)cTt>cCt	p.L104P	ANXA1_uc004ajg.1_Missense_Mutation_p.L104P	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	104					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	ACAGGTCACCTTGAGGAGGTT	0.413000														134			28		0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2523431	2523431	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2523431C>A	uc002cqj.3	+	5	1522	c.1319_splice	c.e5-1	p.D440_splice	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	440					axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						TCTACCCAGACTGTGACTCGC	0.622000														266			55		2.44813e-32	3.0903e-32	1	1	0
ZNF615	284370	broad.mit.edu	37	19	52496865	52496865	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496865A>C	uc002pyf.2	-	6	1814	c.1497T>G	c.(1495-1497)gaT>gaG	p.D499E	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.D488E|ZNF615_uc002pyh.2_Missense_Mutation_p.D499E|ZNF615_uc010epi.2_Missense_Mutation_p.D495E|ZNF615_uc002pyg.2_Missense_Mutation_p.D380E|ZNF615_uc010ydg.2_Missense_Mutation_p.D493E	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R498C(1)|p.R498H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTTTCCACAATCATTGCATA	0.438000														73			28		0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	241988103	241988103	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241988103G>A	uc002wah.1	+	9	1424	c.1424G>A	c.(1423-1425)cGc>cAc	p.R475H		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	475	EGF-like 6.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGTGAGTGCCGCAACGGAGGC	0.637000														31			12		0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893190	1893190	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1893190C>T	uc002qxe.3	-	15	3170	c.2343G>A	c.(2341-2343)agG>agA	p.R781R	MYT1L_uc002qxd.3_Silent_p.R779R|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	781					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCCCGCGGCCTCTGCTTGT	0.617000														165			30		0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62898340	62898340	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:62898340C>T	uc004dvl.2	-	4	1513	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ARHGEF9_uc011mos.1_Missense_Mutation_p.R204H|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R87H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R204H|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R123H|ARHGEF9_uc011mot.2_Missense_Mutation_p.R172H|ARHGEF9_uc004dvn.3_Missense_Mutation_p.R232H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	225	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCAAGAGGCGACAGGCCTC	0.478000														15			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21238318	21238318	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21238318G>A	uc002red.3	-	21	3560	c.3432C>T	c.(3430-3432)gcC>gcT	p.A1144A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1144					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGCAGTTTGGCAGGCGACC	0.488000														139			22		0	0	1	0	0
MSL2	55167	broad.mit.edu	37	3	135870542	135870542	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:135870542G>A	uc003eqx.1	-	1	1914	c.1181C>T	c.(1180-1182)aCa>aTa	p.T394I	MSL2_uc011bmb.1_Missense_Mutation_p.T320I|MSL2_uc021xel.1_Missense_Mutation_p.T320I	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	394					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GATTTTAGGTGTTGTGCCTCC	0.428000														120			31		0	0	1	0	0
ODZ2	57451	broad.mit.edu	37	5	167674992	167674992	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:167674992C>A	uc010jjd.3	+	26	7021	c.7021C>A	c.(7021-7023)Ctc>Atc	p.L2341I	ODZ2_uc003lzr.4_Missense_Mutation_p.L2111I|ODZ2_uc003lzt.4_Missense_Mutation_p.L1714I|ODZ2_uc010jje.3_Missense_Mutation_p.L1605I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GTACTACGACCTCCAGGGCCA	0.547000														154			34		4.74835e-14	5.56603e-14	1	1	0
C16orf90	646174	broad.mit.edu	37	16	3544819	3544819	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3544819G>A	uc002cvi.3	-	1	105	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001080524	NP_001073993	A8MZG2	CP090_HUMAN	Homo sapiens chromosome 16 open reading frame 90 (C16orf90), mRNA.	25										large_intestine(1)	1						GGCCCCCCTCGTAGATGTTGG	0.716000														63			19		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50815323	50815323	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:50815323G>T	uc021tib.1	+	8	1807	c.1684_splice	c.e8+1	p.A562_splice	CYLD_uc002ego.3_Splice_Site_p.A559_splice|CYLD_uc010cbs.1_Splice_Site_p.A559_splice|CYLD_uc002egp.1_Splice_Site_p.A559_splice|CYLD_uc002egq.1_Splice_Site_p.A559_splice|CYLD_uc002egr.1_Splice_Site_p.A559_splice|CYLD_uc002egs.1_Splice_Site_p.A559_splice	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	562	Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AACTCTTTAGGTATTTGGATG	0.383000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					76			17		4.7546e-09	5.25358e-09	1	1	0
ADRBK1	156	broad.mit.edu	37	11	67049920	67049920	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67049920A>G	uc009yrn.1	+	12	1333	c.1067A>G	c.(1066-1068)tAc>tGc	p.Y356C		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	356	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	ACCCACGGGTACATGGCTCCG	0.662000														181			39		0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33783327	33783327	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:33783327C>A	uc002rox.3	+	16	2256	c.1629C>A	c.(1627-1629)gcC>gcA	p.A543A	RASGRP3_uc010ync.2_Silent_p.A543A|RASGRP3_uc002roy.3_Silent_p.A542A	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	543					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTCTGGCCTGCAGGAGAT	0.542000														49			12		6.40141e-05	6.6609e-05	1	1	0
TMTC3	160418	broad.mit.edu	37	12	88566449	88566449	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88566449C>T	uc001tau.3	+	7	1346	c.1126C>T	c.(1126-1128)Cga>Tga	p.R376*	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	376						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TGTTGCCGAGCGAGTATTATA	0.353000														95			17		0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44278573	44278573	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44278573G>A	uc002oxl.3	-	2	850	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L		NM_002250	NP_002241	O15554	KCNN4_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 (KCNN4), mRNA.	152					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	GCCAGGGACAGCAGCGCTTCC	0.731000											OREG0025535	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		28			9		0	0	1	0	0
SMARCB1	6598	broad.mit.edu	37	22	24176329	24176329	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24176329C>T	uc002zyd.3	+	9	1353	c.1146_splice	c.e9-1	p.R382_splice	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Splice_Site_p.R373_splice|SMARCB1_uc002zyc.3_Splice_Site_p.R364_splice	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	373				A -> G (in Ref. 1 and 3).	DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTCTTCCAGGCGGATGAGGCG	0.657000			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid								19			5		0	0	1	0	0
TPPP	11076	broad.mit.edu	37	5	678080	678080	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:678080C>T	uc003jbg.4	-	0	814	c.96G>A	c.(94-96)tcG>tcA	p.S32S	TPPP_uc003jbh.4_Silent_p.S32S	NM_007030	NP_008961	O94811	TPPP_HUMAN	Homo sapiens tubulin polymerization promoting protein (TPPP), mRNA.	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGATTCCAGCGACAGCCTCT	0.692000														57			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720708	140720708	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720708C>T	uc003ljk.2	+	0	2355	c.2170C>T	c.(2170-2172)Ctg>Ttg	p.L724L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Silent_p.L724L|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	723					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L724V(2)		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)			CAAGTCACGCCTGCTGCAGGC	0.642000														362			88		0	0	1	0	0
MMP25	64386	broad.mit.edu	37	16	3100403	3100403	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3100403G>A	uc002cth.3	+	3	754	c.517G>A	c.(517-519)Gac>Aac	p.D173N	MMP25_uc002cti.1_Missense_Mutation_p.D109N	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	173					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CATCCTCATCGACTTTGCCCG	0.642000														168			8		0	0	1	0	0
C1orf56	54964	broad.mit.edu	37	1	151021076	151021076	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151021076A>G	uc001ewn.3	+	0	818	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_uc021oyi.1_Silent_p.Q251Q	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	251						extracellular region		p.Q251Q(2)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCACCTATCAACAATGTCCCT	0.617000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		442			138		0	0	1	0	0
RPL31P11	641311	broad.mit.edu	37	1	161654817	161654817	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161654817C>T	uc001gbc.3	-	0		c.226G>A								Homo sapiens ribosomal protein L31 pseudogene 11 (RPL31P11), non-coding RNA.																		TCAATGCGCGCATCTGGAGTT	0.507000														54			16		0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217234861	217234861	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217234861G>T	uc002vgb.3	-	0	1890	c.123C>A	c.(121-123)cgC>cgA	p.R41R		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	41						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GCATGCGGCAGCGGCACTTGA	0.652000														37			12		1.08611e-07	1.17606e-07	1	1	0
LDLRAD1	388633	broad.mit.edu	37	1	54474776	54474776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54474776C>T	uc001cwm.1	-	5	515	c.497G>A	c.(496-498)gGg>gAg	p.G166E	LDLRAD1_uc010onz.1_3'UTR|LDLRAD1_uc010ooa.1_Missense_Mutation_p.G123E|LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA.	166	LDL-receptor class A 3; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						GCGCCACCACCCAGGGCCGCA	0.597000														225			22		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1084037	1084037	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1084037G>A	uc003jbu.3	-	7	1018	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	318					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCGAAGCTGCGCCGTGACAGC	0.682000														112			28		0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102777979	102777979	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102777979G>T	uc001ksn.3	-	8	1649	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	PDZD7_uc021pxc.1_Missense_Mutation_p.L467M|PDZD7_uc001kso.2_Missense_Mutation_p.L467M	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	467						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGTTCATCAGCGTCTTGGAG	0.652000														171			33		1.08312e-15	1.2841e-15	1	1	0
PLCH1	23007	broad.mit.edu	37	3	155222376	155222376	+	Nonsense_Mutation	SNP	G	A	A	rs142222970		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:155222376G>A	uc021xge.1	-	11	1913	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*	PLCH1_uc021xgd.1_Nonsense_Mutation_p.R546*|PLCH1_uc021xgf.1_Nonsense_Mutation_p.R528*	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	546					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATGAGGGATCGTCCATGTGAT	0.313000														76			15		0	0	1	0	0
APC2	10297	broad.mit.edu	37	19	1467872	1467872	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1467872G>A	uc002lsr.1	+	14	4780	c.4572G>A	c.(4570-4572)acG>acA	p.T1524T	APC2_uc002lss.1_Silent_p.T1106T|APC2_uc002lst.1_Silent_p.T1524T|APC2_uc002lsu.1_Silent_p.T1523T|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1524	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.|Pro-rich.				Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus	Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCGCCCACGCCAACCCACC	0.721000														44			5		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921240	148921240	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921240G>A	uc003wfm.3	+	7	1622	c.1517G>A	c.(1516-1518)cGg>cAg	p.R506Q	ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	506					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GGGCTGCGGCGGAGCCTCCTC	0.781000														22			9		0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827105	79827105	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827105C>T	uc021uff.1	-	4	665	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Missense_Mutation_p.R120Q|ARHGDIA_uc021ufg.1_Missense_Mutation_p.R120Q|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	120					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CACTATCTCTCGGTTAACCTG	0.642000														139			26		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768755	39768755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39768755G>A	uc002hxg.4	-	0	325	c.186C>T	c.(184-186)tgC>tgT	p.C62C	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Silent_p.C62C	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	62	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCCCCAGCCCGCAGGCTCCCC	0.692000														42			6		0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177073110	177073110	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177073110C>A	uc003iuj.3	+	17	2827	c.2524C>A	c.(2524-2526)Ctt>Att	p.L842I	WDR17_uc003ium.4_Missense_Mutation_p.L818I|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_Missense_Mutation_p.L61I	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	842										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATGGTTGAACTTGGAGAGGT	0.328000														52			13		0.0167234	0.0168888	1	1	0
TMEM175	84286	broad.mit.edu	37	4	944245	944245	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:944245C>T	uc003gbq.3	+	3	327	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	TMEM175_uc010ibl.1_Missense_Mutation_p.R77W|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_5'UTR	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	77						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCTGGCAACACGGATTGCCGT	0.577000														185			47		0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227606	75227606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75227606C>T	uc003yae.3	-	1	669	c.629G>A	c.(628-630)gGc>gAc	p.G210D	JPH1_uc003yaf.3_Missense_Mutation_p.G210D|JPH1_uc003yag.1_Missense_Mutation_p.G74D	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	210					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCGGAAGAGGCCGCCCTTCTT	0.657000														226			46		0	0	1	0	0
EDDM3A	10876	broad.mit.edu	37	14	21215860	21215860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21215860C>T	uc021rom.1	+	0	121	c.121C>T	c.(121-123)Cca>Tca	p.P41S	EDDM3A_uc001vyc.3_Missense_Mutation_p.P41S	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	41					sperm displacement	extracellular space				breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTACTTAAGTCCAAGTCGAGA	0.393000														148			25		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299103	62299103	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299103A>G	uc001ntl.3	-	4	3086	c.2786T>C	c.(2785-2787)cTg>cCg	p.L929P	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	929					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGGCCCTTCAGCTTTCCTTC	0.488000														374			68		0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29855524	29855524	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29855524G>A	uc002hgn.1	+	11	1686	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.R384H	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	486	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CGACAGAACCGCCTTGAGTTC	0.622000														189			36		0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435608	104435608	+	RNA	SNP	C	T	T	rs113231648	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:104435608C>T	uc003kok.3	+	0		c.434C>T								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		GGGACGGCAGCGACTATCCTT	0.458000														64			18		0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378799	144378799	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144378799G>T	uc003yxy.4	+	2	1363	c.954G>T	c.(952-954)gaG>gaT	p.E318D		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACCGGGGAGAAGCCCCACC	0.736000														44			10		2.17888e-05	2.28139e-05	1	1	0
ERN2	10595	broad.mit.edu	37	16	23706195	23706195	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23706195C>A	uc002dma.4	-	16	2267	c.2098G>T	c.(2098-2100)Ggc>Tgc	p.G700C	ERN2_uc010bxp.3_Missense_Mutation_p.G648C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	652	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGCCCAGGCCCTGGCTGTCA	0.632000														79			19		8.34094e-07	8.90579e-07	1	1	0
CLASRP	11129	broad.mit.edu	37	19	45556400	45556400	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45556400G>A	uc002pak.3	+	4	442	c.344G>A	c.(343-345)cGc>cAc	p.R115H	CLASRP_uc002pal.3_Non-coding_Transcript|CLASRP_uc010xxh.2_Missense_Mutation_p.R53H|CLASRP_uc002pam.3_Missense_Mutation_p.R115H|CLASRP_uc002pan.1_Non-coding_Transcript	NM_007056	NP_008987	Q8N2M8	CLASR_HUMAN	Homo sapiens CLK4-associating serine/arginine rich protein (CLASRP), mRNA.	115					RNA splicing|mRNA processing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						AACTACGAGCGCTACAGAGGC	0.582000														103			19		0	0	1	0	0
KATNAL1	84056	broad.mit.edu	37	13	30815139	30815139	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30815139C>T	uc001uss.3	-	4	678	c.577G>A	c.(577-579)Gcc>Acc	p.A193T	KATNAL1_uc001ust.3_Missense_Mutation_p.A193T	NM_001014380	NP_115492	Q9BW62	KATL1_HUMAN	Homo sapiens katanin p60 subunit A-like 1 (KATNAL1), transcript variant 2, mRNA.	193						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		CTTTCAAGGGCTTCCACCAGA	0.383000														99			9		0	0	1	0	0
SNX32	254122	broad.mit.edu	37	11	65620368	65620368	+	Missense_Mutation	SNP	G	A	A	rs138424932	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65620368G>A	uc001ofr.3	+	11	1224	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	366					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AAGTCCCGCCGGGTCTCCTCT	0.637000														251			53		0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014089	53014089	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53014089T>G	uc002pzp.4	+	5	699	c.455T>G	c.(454-456)aTt>aGt	p.I152S		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AACAAGCCTATTAAAGATCAG	0.408000														230			56		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74060140	74060140	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74060140G>A	uc002jqk.1	-	3	513	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SRP68_uc010wsu.1_Missense_Mutation_p.R59C|SRP68_uc002jql.1_Missense_Mutation_p.R122C	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	160					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						ACGGCTTTGCGTAGGCGAGAT	0.502000														219			48		0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99470004	99470004	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99470004A>G	uc001dsb.3	-	0	446	c.224T>C	c.(223-225)gTc>gCc	p.V75A	LOC100129620_uc001dsd.1_Non-coding_Transcript|LPPR5_uc001dsc.3_Missense_Mutation_p.V75A	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	75						integral to membrane	hydrolase activity										GAGCACGGGGACCCCGGCGGC	0.726000														57			6		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21106645	21106645	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21106645C>A	uc021uie.1	+	12	1226	c.1105C>A	c.(1105-1107)Ctc>Atc	p.L369I	C18orf8_uc010xay.2_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	369										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAGTAAATCTCTTACCAGA	0.428000														120			10		2.74318e-10	3.085e-10	1	1	0
NFE2L1	4779	broad.mit.edu	37	17	46128755	46128755	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46128755G>T	uc002imz.4	+	1	926	c.275G>T	c.(274-276)aGg>aTg	p.R92M	NFE2L1_uc002ina.4_Missense_Mutation_p.R92M|NFE2L1_uc002inb.4_Missense_Mutation_p.R92M|NFE2L1_uc002inc.1_Missense_Mutation_p.R92M	NM_003204	NP_003195	Q14494	NF2L1_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA.	92					anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCCCTGGACAGGTTCCAGGTG	0.592000														202			60		6.3091e-27	7.89618e-27	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29030754	29030754	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29030754G>A	uc001bra.3	+	7	953	c.811G>A	c.(811-813)Gag>Aag	p.E271K	GMEB1_uc001bqz.3_Missense_Mutation_p.E261K|GMEB1_uc001brb.3_Missense_Mutation_p.E261K	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCTGATGGAAGAGGTTGTCTG	0.468000														114			32		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20682938	20682938	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20682938C>A	uc010kuh.3	+	5	683	c.446C>A	c.(445-447)gCa>gAa	p.A149E		NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	333	ABC transporter 1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCAGTTTTGGCACAGGACATC	0.408000														68			14		6.72482e-11	7.60803e-11	1	1	0
PTPRB	5787	broad.mit.edu	37	12	70949649	70949649	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:70949649C>T	uc001swb.4	-	17	4369	c.4339_splice	c.e17+1	p.R1447_splice	PTPRB_uc010sto.2_Splice_Site_p.R1357_splice|PTPRB_uc010stp.2_Splice_Site_p.R1357_splice|PTPRB_uc001swc.4_Splice_Site_p.R1665_splice|PTPRB_uc001swa.4_Splice_Site_p.R1577_splice	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1447					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGACACTTACGGTCTATCAT	0.522000														42			7		0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41949534	41949534	+	Missense_Mutation	SNP	G	A	A	rs138596022		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41949534G>A	uc010skn.2	+	6	1345	c.1337G>A	c.(1336-1338)cGg>cAg	p.R446Q	PDZRN4_uc001rmq.4_Missense_Mutation_p.R188Q|PDZRN4_uc009zjz.3_Missense_Mutation_p.R186Q|PDZRN4_uc001rmr.3_Missense_Mutation_p.R73Q	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	446	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AAAGACGGCCGGATTCGAGAA	0.398000														122			24		0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20781393	20781393	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:20781393C>T	uc003ndd.2	+	7	702	c.535C>T	c.(535-537)Ctg>Ttg	p.L179L	CDKAL1_uc003nde.2_Silent_p.L109L|CDKAL1_uc021ymk.1_Silent_p.L179L	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	179					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TGTGAGACTGCTGGGTCAGAA	0.398000														105			20		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415518	57415518	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415518C>T	uc021wfl.1	+	0	724	c.357C>T	c.(355-357)atC>atT	p.I119I	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Silent_p.I119I|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	134					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGTCCGAAATCGAGTCCGAGA	0.637000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				222			51		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117368189	117368189	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:117368189A>G	uc003vjf.3	-	16	4101	c.4009T>C	c.(4009-4011)Ttc>Ctc	p.F1337L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1337										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)		CAAGACAGGAAATATTTTGGT	0.498000														237			19		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796553	127796553	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796553C>T	uc003qbd.3	-	5	3483	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	873						integral to membrane											AGCGTTGATGCGGTAGAGCAG	0.662000														258			50		0	0	1	0	0
C3AR1	719	broad.mit.edu	37	12	8212009	8212009	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8212009A>G	uc001qtv.1	-	1	865	c.773T>C	c.(772-774)gTa>gCa	p.V258A	C3AR1_uc021quj.1_Missense_Mutation_p.V258A	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	258					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGTTTAAATACATTAGAATA	0.433000														108			20		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49362745G>A	uc002pkx.3	-	6	1224	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_uc010eml.3_Missense_Mutation_p.R225W	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.	225	Pro-rich.					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)		CTCGCCCTCCGCATCTGGAGT	0.637000														99			14		0	0	1	0	0
MATN1	4146	broad.mit.edu	37	1	31189685	31189685	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31189685C>T	uc001brz.3	-	3	776	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	LOC100129196_uc001bsb.1_5'Flank	NM_002379	NP_002370	P21941	MATN1_HUMAN	Homo sapiens matrilin 1, cartilage matrix protein (MATN1), mRNA.	248	EGF-like.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	p.A248T(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTGGCAGGCGCAGGTGTAG	0.622000														53			8		0	0	1	0	0
DCAF6	55827	broad.mit.edu	37	1	167944232	167944232	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167944232T>C	uc001gew.3	+	3	770	c.417T>C	c.(415-417)tgT>tgC	p.C139C	DCAF6_uc001gex.3_Silent_p.C139C|DCAF6_uc010plk.2_Silent_p.C108C|DCAF6_uc001gev.3_Silent_p.C139C|DCAF6_uc001gey.3_5'UTR	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	139					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.T138M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AATTTACGTGTCATTATGGAA	0.313000														94			9		0	0	1	0	0
CLEC2L	154790	broad.mit.edu	37	7	139226862	139226862	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:139226862G>A	uc010lnd.3	+	3	528	c.528G>A	c.(526-528)ccG>ccA	p.P176P		NM_001080511	NP_001073980	P0C7M8	CLC2L_HUMAN	Homo sapiens C-type lectin domain family 2, member L (CLEC2L), mRNA.	176	C-type lectin.					integral to membrane	sugar binding			NS(1)|endometrium(1)|kidney(2)|lung(1)	5	Melanoma(164;0.233)					CGTTTGATCCGGACACGTGAG	0.552000														37			4		0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82786232	82786232	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:82786232G>A	uc003kii.3	+	2	742	c.386G>A	c.(385-387)cGc>cAc	p.R129H	VCAN_uc003kij.3_Missense_Mutation_p.R129H|VCAN_uc010jau.2_Missense_Mutation_p.R129H|VCAN_uc003kik.3_Missense_Mutation_p.R129H|VCAN_uc003kih.4_Missense_Mutation_p.R129H	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	129	Ig-like V-type.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGTCTTTACCGCTGTGACGTC	0.517000														160			42		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937351	26937351	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26937351C>T	uc003acw.3	-	2	587	c.246G>A	c.(244-246)acG>acA	p.T82T	TPST2_uc003acx.3_Silent_p.T82T|TPST2_uc011akf.1_Silent_p.T82T	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	82					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGCGCATCAACGTGGTGCCAC	0.672000														91			18		0	0	1	0	0
PBX1	5087	broad.mit.edu	37	1	164761883	164761883	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:164761883G>T	uc001gct.3	+	2	881	c.418G>T	c.(418-420)Ggt>Tgt	p.G140C	PBX1_uc010pku.2_Missense_Mutation_p.G140C|PBX1_uc001gcs.3_Missense_Mutation_p.G140C|PBX1_uc010pkv.2_Missense_Mutation_p.G57C|PBX1_uc010pkw.1_Missense_Mutation_p.G30C	NM_002585	NP_002576	P40424	PBX1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA.	140					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGGAGGGGCAGGTTCAGACAA	0.602000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""									122			51		4.01344e-20	4.89264e-20	1	1	0
PPARGC1B	133522	broad.mit.edu	37	5	149210396	149210396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149210396G>A	uc003lrc.3	+	3	623	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PPARGC1B_uc003lrb.2_Missense_Mutation_p.A178T|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_Missense_Mutation_p.A157T|PPARGC1B_uc003lrf.3_Missense_Mutation_p.A157T	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	178					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAAGGGACCGCCTGGCGCCA	0.577000														261			54		0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55853326	55853326	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55853326G>T	uc002qkj.4	+	1	270	c.22G>T	c.(22-24)Gca>Tca	p.A8S	SUV420H2_uc010esx.1_Missense_Mutation_p.A8S|SUV420H2_uc002qkk.1_Missense_Mutation_p.A8S|SUV420H2_uc002qkl.3_5'UTR	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGAGTGACAGCACGAGAACT	0.652000														221			45		2.69774e-35	3.41689e-35	1	1	0
FLG2	388698	broad.mit.edu	37	1	152325221	152325221	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152325221G>A	uc001ezw.4	-	2	5114	c.5041C>T	c.(5041-5043)Cat>Tat	p.H1681Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1681							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTCCATGTTGAGATCCA	0.478000														523			91		0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120353797	120353797	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:120353797G>A	uc001ldp.1	-	1	1099	c.960C>T	c.(958-960)tgC>tgT	p.C320C	PRLHR_uc021pzm.1_Silent_p.C320C	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	320					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		CGAGCCAGTGGCAGAGCAGCT	0.647000														154			45		0	0	1	0	0
OR8H2	390151	broad.mit.edu	37	11	55873329	55873329	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55873329G>T	uc010riy.2	+	0	811	c.811G>T	c.(811-813)Gat>Tat	p.D271Y		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R270R(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTTGGGAAGAGATCAAGTGGC	0.363000										HNSCC(53;0.14)				84			25		1.10923e-09	1.2355e-09	1	1	0
SLC43A3	29015	broad.mit.edu	37	11	57193571	57193571	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57193571G>A	uc010rjr.2	-	2	417	c.75C>T	c.(73-75)ggC>ggT	p.G25G	SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Silent_p.G25G|SLC43A3_uc001nkh.3_Silent_p.G25G|SLC43A3_uc009yme.3_Silent_p.G25G|SLC43A3_uc001nki.3_Silent_p.G25G|SLC43A3_uc009ymf.1_Silent_p.G25G|SLC43A3_uc010rjs.1_Silent_p.G25G|SLC43A3_uc009ymg.1_Silent_p.G25G	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	25					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAAAGAGGACGCCAGCAAAGC	0.557000														210			51		0	0	1	0	0
FAM173B	134145	broad.mit.edu	37	5	10236629	10236629	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10236629C>T	uc003jeo.2	-	2	434	c.405G>A	c.(403-405)gtG>gtA	p.V135V	FAM173B_uc003jep.2_Non-coding_Transcript|FAM173B_uc010itr.2_Silent_p.V135V	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN	Homo sapiens family with sequence similarity 173, member B (FAM173B), mRNA.	135						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CAGATCCATGCACACCTTCTC	0.413000														93			15		0	0	1	0	0
SLCO2B1	11309	broad.mit.edu	37	11	74914430	74914430	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74914430G>A	uc001owb.3	+	12	2302	c.1907G>A	c.(1906-1908)cGa>cAa	p.R636Q	SLCO2B1_uc010rrr.2_Missense_Mutation_p.R492Q|SLCO2B1_uc010rrs.2_Missense_Mutation_p.R520Q|SLCO2B1_uc001owc.3_Missense_Mutation_p.R409Q|SLCO2B1_uc001owd.3_Missense_Mutation_p.R614Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	636					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	TGTGGGCGTCGAGCTGTCTGT	0.607000														235			48		0	0	1	0	0
IBA57	200205	broad.mit.edu	37	1	228363176	228363176	+	Missense_Mutation	SNP	G	A	A	rs150912462	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228363176G>A	uc001hsl.4	+	2	1122	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T	IBA57_uc010pvw.2_Missense_Mutation_p.A152T	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	Homo sapiens IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae) (IBA57), mRNA.	345					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	p.A345A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						GGCCTTAGCCGCATCTGTGCC	0.647000														269			42		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46827361	46827361	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827361G>T	uc001cpr.1	+	5	1107	c.998G>T	c.(997-999)aGc>aTc	p.S333I	NSUN4_uc010omc.1_Missense_Mutation_p.S284I|NSUN4_uc009vyf.1_Missense_Mutation_p.S182I|NSUN4_uc009vyg.1_Missense_Mutation_p.S284I|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	333							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AATCAATACAGCATCCAGGTA	0.478000														172			41		4.0492e-12	4.65414e-12	1	1	0
RSG1	79363	broad.mit.edu	37	1	16558646	16558646	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16558646G>A	uc001ayd.3	-	4	1096	c.674C>T	c.(673-675)gCc>gTc	p.A225V		NM_030907	NP_112169	Q9BU20	RSG1_HUMAN	Homo sapiens REM2 and RAB-like small GTPase 1 (RSG1), mRNA.	225	Small GTPase-like.				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GGCAACGTCGGCCAGCCCAGC	0.692000														169			17		0	0	1	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735057	12735057	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:12735057G>A	uc004cuz.2	+	14	2985	c.2479G>A	c.(2479-2481)Gca>Aca	p.A827T	FRMPD4_uc011mij.2_Missense_Mutation_p.A819T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	827					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						TCAGAGCCAGGCAGCTTCCTT	0.562000														151			38		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21899168	21899168	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21899168C>T	uc001war.2	-	0	700	c.635G>A	c.(634-636)cGa>cAa	p.R212Q	CHD8_uc001was.2_Intron|Metazoa_SRP_uc021row.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	212					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AACACCTGGTCGAAGGGGTGT	0.572000														62			10		0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220336654	220336654	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220336654C>T	uc010fwg.3	+	13	3780	c.3780C>T	c.(3778-3780)agC>agT	p.S1260S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1260	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCTACAAGAGCGTCATTGCCA	0.632000														121			22		0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112889540	112889540	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112889540G>A	uc003kqn.3	+	14	2243	c.2041G>A	c.(2041-2043)Gtt>Att	p.V681I	YTHDC2_uc010jce.2_Missense_Mutation_p.V681I|YTHDC2_uc010jcf.2_Missense_Mutation_p.V381I	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	Homo sapiens YTH domain containing 2 (YTHDC2), mRNA.	681	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ACCTGCAGGTGTTCGAAAAAT	0.284000														42			12		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379912	220379912	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379912C>T	uc002vlz.3	+	0	1021	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	ASIC4_uc010fwi.2_Missense_Mutation_p.R283C|ASIC4_uc010fwj.2_Missense_Mutation_p.R283C|ASIC4_uc002vly.2_Missense_Mutation_p.R283C|ASIC4_uc002vma.3_Missense_Mutation_p.R283C|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	283						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GGCTGGCCTGCGCTACCCAGA	0.627000														140			29		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8910878	8910878	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8910878C>T	uc002qzc.2	-	21	3115	c.2933G>A	c.(2932-2934)cGg>cAg	p.R978Q	KIDINS220_uc010yiv.1_Missense_Mutation_p.R744Q|KIDINS220_uc002qzd.2_Missense_Mutation_p.R936Q|KIDINS220_uc010yiw.1_Missense_Mutation_p.R979Q|KIDINS220_uc002qze.3_5'UTR	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	978					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCATGAAGTCCGGTATGGCCA	0.398000														74			25		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20442373	20442373	+	Missense_Mutation	SNP	C	T	T	rs113178652	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20442373C>T	uc002dhe.3	+	8	1331	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	395					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.K394Q(1)|p.K394M(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGGGGAAGGCGTCCCCACCC	0.552000														309			53		0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65144688	65144688	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65144688A>G	uc010wqk.2	-	19	2808	c.2621T>C	c.(2620-2622)aTc>aCc	p.I874T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I873T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CACCTACTTGATGATAGCTTC	0.483000														275			16		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167328870	167328870	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167328870C>T	uc002udu.2	-	4	659	c.529G>A	c.(529-531)Ggt>Agt	p.G177S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	177					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CATGGATCACCGAGGAAGGAA	0.353000														22			3		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3363127	3363127	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3363127C>T	uc002wii.2	-	1	161	c.110G>A	c.(109-111)aGc>aAc	p.S37N	C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	37										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GGTCAGGATGCTCTGAACCTG	0.567000														87			9		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53747046	53747046	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53747046G>A	uc002qbg.1	-	3	271	c.120C>T	c.(118-120)aaC>aaT	p.N40N	ZNF677_uc002qbf.1_Silent_p.N40N|ZNF677_uc002qbh.3_Non-coding_Transcript	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTTCCTGTAGTTCTCCAACA	0.488000														124			35		0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120650126	120650126	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120650126G>A	uc001txv.3	-	10	1951	c.1809C>T	c.(1807-1809)ctC>ctT	p.L603L	LOC100506649_uc021reu.1_Intron|PXN_uc001txu.3_Silent_p.L401L|PXN_uc001txx.3_Silent_p.L422L|PXN_uc001txt.3_Silent_p.L589L|PXN_uc001txy.3_Silent_p.L555L|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	589					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTAGCAGAAGAGCTTGAGGA	0.587000														60			17		0	0	1	0	0
POLR2E	5434	broad.mit.edu	37	19	1093977	1093977	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1093977G>A	uc002lre.4	-	1	235	c.158C>T	c.(157-159)cCg>cTg	p.P53L	POLR2E_uc010xgf.2_Intron	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	53					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGCGCCGCGGCCGCCCCTC	0.642000														81			22		0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440520	40440520	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40440520G>T	uc003gvc.2	-	3	1101	c.391C>A	c.(391-393)Ctc>Atc	p.L131I	RBM47_uc003gvd.2_Missense_Mutation_p.L131I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.L93I|RBM47_uc003gvg.1_Missense_Mutation_p.L131I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	131	RRM 1.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TAGTTGTTGAGCTCACGCACT	0.627000														186			13		0.00136819	0.00139829	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58421078	58421078	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58421078C>T	uc002qqq.3	-	2	767	c.568G>A	c.(568-570)Gct>Act	p.A190T	ZNF417_uc010yhm.2_Missense_Mutation_p.A147T|ZNF417_uc002qqr.3_Missense_Mutation_p.A189T	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TCTACAGCAGCTGCTTCTTGG	0.483000														350			80		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161895	43161895	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161895G>A	uc002yzn.1	-	7	1506	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	486						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGAGCTCCACGACACCCCGCA	0.632000														206			61		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72176078	72176078	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72176078C>T	uc002atl.4	-	28	5729	c.5256_splice	c.e28-1	p.R1752_splice	MYO9A_uc002atk.3_Splice_Site_p.R547_splice|MYO9A_uc002atm.1_Splice_Site_p.R548_splice	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1752	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTCTGAGGTCTGTTTAAAGA	0.368000														62			17		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33564355	33564355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33564355G>A	uc021qfs.1	+	0	479	c.355G>A	c.(355-357)Gct>Act	p.A119T	C11orf41_uc001mun.1_Missense_Mutation_p.A119T	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	119						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GACCCATGAGGCTGAGCCTCC	0.522000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			18		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315241	30315241	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315241G>A	uc009xle.2	-	2	3973	c.3836C>T	c.(3835-3837)gCc>gTc	p.A1279V	KIAA1462_uc001iux.3_Missense_Mutation_p.A1279V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A1141V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1279										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTGGGAGTCGGCATTCCTGAA	0.632000														192			15		0	0	1	0	0
PADI1	29943	broad.mit.edu	37	1	17570600	17570600	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17570600C>T	uc001bah.1	+	15	1946	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S	PADI1_uc010oco.1_Silent_p.S175S|PADI1_uc010ocp.1_Silent_p.S133S|PADI1_uc010ocq.1_Silent_p.S89S|PADI1_uc009vpb.1_Missense_Mutation_p.P12L	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	618					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGTGCAGTCCCTGCTGGAGC	0.592000														104			16		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176318184	176318184	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176318184C>A	uc003mfa.3	-	3	360	c.268G>T	c.(268-270)Gac>Tac	p.D90Y	HK3_uc003mez.3_5'Flank	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	90	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCACGAAGTCTCCTTGCTCT	0.592000														128			46		2.24722e-20	2.74335e-20	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47449834	47449834	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47449834G>T	uc003crf.1	+	15	1281	c.1185_splice	c.e15-1	p.D395_splice	PTPN23_uc011baw.1_Splice_Site_p.D360_splice|PTPN23_uc011bax.1_Splice_Site|PTPN23_uc011bay.1_Splice_Site_p.D265_splice	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	395					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTCCCCACAGCCAGTTCATG	0.582000														131			30		1.39806e-14	1.64448e-14	1	1	0
HAPLN3	145864	broad.mit.edu	37	15	89424833	89424833	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89424833C>T	uc002bnd.3	-	3	515	c.434G>A	c.(433-435)cGt>cAt	p.R145H	HAPLN3_uc002bnc.3_Missense_Mutation_p.R83H|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	83	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GACACGCACACGCCGCGGGGA	0.657000														253			53		0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1206967	1206967	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1206967T>C	uc002lrl.1	+	0	1170	c.55T>C	c.(55-57)Tcg>Ccg	p.S19P		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	19					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)|p.S19*(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCTGATGTCGGTGGGTAT	0.662000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				32			11		0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521605	125521605	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:125521605T>G	uc010flu.3	+	15	2778	c.2414T>G	c.(2413-2415)tTt>tGt	p.F805C	CNTNAP5_uc002tno.3_Missense_Mutation_p.F804C	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	804	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TACCTCCACTTTCCTACCTTC	0.413000														85			33		0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031956	26031956	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26031956G>A	uc003nfs.1	-	0	333	c.333C>T	c.(331-333)tgC>tgT	p.C111C		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	111					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CATGGATGGCGCAAAGGTTTG	0.517000														140			37		0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124149506	124149506	+	Silent	SNP	C	T	T	rs138919966	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:124149506C>T	uc003ehg.3	+	15	2834	c.2707C>T	c.(2707-2709)Ctg>Ttg	p.L903L	KALRN_uc010hrv.1_Silent_p.L903L|KALRN_uc003ehf.1_Silent_p.L903L|KALRN_uc011bjy.1_Silent_p.L903L|KALRN_uc003ehh.1_Silent_p.L249L	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	903					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						TCCCTAGGTTCTGGGATGGAT	0.567000														102			11		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529401	57529401	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57529401G>T	uc011kdi.1	+	3	1346	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAATGTGAAGAATGTGGCAA	0.403000														45			5		0.184627	0.184976	1	1	0
COL4A1	1282	broad.mit.edu	37	13	110828977	110828977	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:110828977C>A	uc001vqw.4	-	34	3086	c.2964G>T	c.(2962-2964)caG>caT	p.Q988H		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	988	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CTGTACCTGGCTGCCCAGGCT	0.597000														97			19		1.67942e-08	1.84125e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9061129	9061129	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9061129T>C	uc002mkp.3	-	2	26521	c.26317A>G	c.(26317-26319)Att>Gtt	p.I8773V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8775	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTAGAAATTCTAGTGATG	0.507000														147			40		0	0	1	0	0
DGCR6	8214	broad.mit.edu	37	22	18898402	18898402	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898402C>T	uc002zoh.4	+	4	525	c.373_splice	c.e4-1	p.A125_splice	DGCR6_uc002zog.3_Splice_Site|DGCR6_uc002zoi.4_Splice_Site	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6), mRNA.	125					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						CCACGGCAGGCGGTGGAGCAC	0.657000														72			9		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178442279	178442279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178442279C>T	uc001glq.3	+	17	4512	c.3748C>T	c.(3748-3750)Cgg>Tgg	p.R1250W	RASAL2_uc001glr.3_Missense_Mutation_p.R1109W|RASAL2_uc009wxc.3_Missense_Mutation_p.A633V	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	1109					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.R1250W(1)|p.R1239W(1)|p.R1109W(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGTGAAGGAGCGGTACAGCAT	0.537000														159			33		0	0	1	0	0
ARR3	407	broad.mit.edu	37	X	69497300	69497300	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:69497300C>A	uc004dyb.2	+	8	598	c.530C>A	c.(529-531)cCt>cAt	p.P177H	ARR3_uc004dya.3_Missense_Mutation_p.P177H	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	177					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GAGGCAGGCCCTGGCCCCTCA	0.582000														53			16		1.52009e-12	1.75732e-12	1	1	0
LRFN3	79414	broad.mit.edu	37	19	36435681	36435681	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36435681C>A	uc002oco.3	+	2	2099	c.1647C>A	c.(1645-1647)gcC>gcA	p.A549A		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	549					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TCATCGTAGCCTCGGTACTGG	0.667000														87			23		1.28384e-07	1.38782e-07	1	1	0
DZIP1L	199221	broad.mit.edu	37	3	137783593	137783593	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:137783593C>T	uc003erq.3	-	14	2382	c.2019G>A	c.(2017-2019)tcG>tcA	p.S673S		NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	673						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						TTTTGACCATCGACTGCACCA	0.517000														362			64		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118485814	118485814	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118485814C>T	uc010jcl.1	+	17	4473	c.4292C>T	c.(4291-4293)aCg>aTg	p.T1431M	DMXL1_uc003ksd.2_Missense_Mutation_p.T1431M|DMXL1_uc021ycw.1_Missense_Mutation_p.T1258M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1431								p.T1431M(2)|p.T1431T(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AATGAGAGTACGTTAAGTAAA	0.338000														99			19		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173744779	173744779	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173744779G>A	uc001gjc.3	+	9	1615	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	KLHL20_uc010pmr.2_Missense_Mutation_p.R290H|KLHL20_uc009wwf.3_Missense_Mutation_p.R461H	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	479					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACAGTGGAACGTTACAATCCT	0.438000														63			21		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181693609	181693609	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181693609C>T	uc009wxt.3	+	16	2273	c.2078C>T	c.(2077-2079)aCg>aTg	p.T693M	CACNA1E_uc001gow.3_Missense_Mutation_p.T693M|CACNA1E_uc009wxs.3_Missense_Mutation_p.T693M	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	693					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCAGACACGCTACTGAAT	0.463000														29			12		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153592426	153592426	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153592426G>T	uc004fkk.2	-	14	2493	c.2244C>A	c.(2242-2244)tcC>tcA	p.S748S	FLNA_uc010nuu.1_Silent_p.S748S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	748					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)					CGCCTCCCCAGGACACCATGG	0.597000														245			65		1.41401e-22	1.7446e-22	1	1	0
RAP2C	57826	broad.mit.edu	37	X	131348212	131348212	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:131348212G>T	uc004ewp.3	-	2	1320	c.536C>A	c.(535-537)aCt>aAt	p.T179N	RAP2C_uc004ewo.3_Missense_Mutation_p.T113N|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.T179N	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	179					Rap protein signal transduction|negative regulation of cell migration|positive regulation of protein autophosphorylation|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GACGACACAAGTTGTACAACA	0.403000														86			15		2.23348e-06	2.37297e-06	1	1	0
TDRD5	163589	broad.mit.edu	37	1	179638537	179638537	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179638537C>A	uc010pnp.2	+	16	3376	c.2858C>A	c.(2857-2859)tCt>tAt	p.S953Y	TDRD5_uc021pfm.1_Missense_Mutation_p.S899Y|TDRD5_uc001gnf.2_Missense_Mutation_p.S899Y|TDRD5_uc021pfn.1_Missense_Mutation_p.S953Y|TDRD5_uc001gnh.2_Missense_Mutation_p.S454Y	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	899					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CCCTCTGGTTCTGGTATGTTT	0.443000														108			19		9.7654e-05	0.000101409	1	1	0
FAT1	2195	broad.mit.edu	37	4	187540407	187540407	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540407C>A	uc003izf.3	-	9	7521	c.7333G>T	c.(7333-7335)Ggg>Tgg	p.G2445W		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2445	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGATAATCCCTGTTGCACTG	0.438000										HNSCC(5;0.00058)				224			17		3.52763e-06	3.73571e-06	1	1	0
MKRN2	23609	broad.mit.edu	37	3	12613662	12613662	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12613662G>A	uc003bxd.3	+	3	488	c.432G>A	c.(430-432)ccG>ccA	p.P144P	MKRN2_uc011aus.2_Silent_p.P101P	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	144						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						AGATGAAGCCGCATTCCTACC	0.612000														115			28		0	0	1	0	0
C1RL	51279	broad.mit.edu	37	12	7249062	7249062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7249062G>A	uc001qsn.3	-	5	1482	c.1389C>T	c.(1387-1389)ggC>ggT	p.G463G	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CATACCCTTCGCCACACCCTA	0.562000														170			28		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10720073	10720073	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10720073C>T	uc001aro.3	-	5	1346	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	CASZ1_uc001arp.1_Silent_p.E342E|CASZ1_uc009vmx.2_Silent_p.E366E|CASZ1_uc001arq.1_Silent_p.E201E	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		ACTTGACATTCTCCAGGTCGT	0.587000														239			66		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110716645	110716645	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110716645C>A	uc009wfq.3	+	3	956	c.495C>A	c.(493-495)atC>atA	p.I165I		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	165					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGTGGAGCATCTTCTATTTCT	0.572000														273			23		6.44725e-10	7.21145e-10	1	1	0
FAM9B	171483	broad.mit.edu	37	X	9000434	9000434	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9000434T>C	uc004csh.3	-	1	421	c.232A>G	c.(232-234)Act>Gct	p.T78A	FAM9B_uc011mhu.2_Missense_Mutation_p.T33A			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	33						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TGCTCATCAGTTACATCTTCC	0.403000														200			56		0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87004992	87004992	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87004992G>T	uc003uiu.3	+	8	1030	c.785G>T	c.(784-786)gGa>gTa	p.G262V	CROT_uc003uit.3_Missense_Mutation_p.G234V	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	234					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GAACCTGATGGACCTGGGATT	0.383000														119			8		0.00307968	0.00313564	1	1	0
GREB1	9687	broad.mit.edu	37	2	11777873	11777873	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11777873C>T	uc002rbk.1	+	30	5678	c.5378C>T	c.(5377-5379)gCc>gTc	p.A1793V	GREB1_uc002rbp.1_Missense_Mutation_p.A791V	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1793						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GTCGTGCCGGCCCAGTACATC	0.657000														189			26		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14805932	14805932	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14805932C>A	uc001rcd.3	-	12	1624	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	496	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTATCTCGTCTTTTGTCATC	0.473000														193			49		1.86277e-20	2.27517e-20	1	1	0
GNAS	2778	broad.mit.edu	37	20	57415547	57415547	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:57415547C>A	uc021wfl.1	+	0	753	c.386C>A	c.(385-387)cCt>cAt	p.P129H	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.P129H|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	144					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGACCGAGCCTGAGACCGCC	0.647000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				229			57		2.25088e-17	2.70141e-17	1	1	0
POPDC2	64091	broad.mit.edu	37	3	119379151	119379151	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119379151G>T	uc003ecx.1	-	0	254	c.120C>A	c.(118-120)ggC>ggA	p.G40G	POPDC2_uc010hqw.1_Silent_p.G40G|POPDC2_uc003ecy.1_Intron	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	40						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCCCCATGAAGCCCAGGAGTA	0.572000														89			17		1.02788e-11	1.17486e-11	1	1	0
PPIG	9360	broad.mit.edu	37	2	170493717	170493717	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493717A>G	uc002uez.3	+	13	2169	c.1949A>G	c.(1948-1950)aAg>aGg	p.K650R	PPIG_uc010fpx.3_Missense_Mutation_p.K635R|PPIG_uc010fpy.3_Missense_Mutation_p.K643R|PPIG_uc002ufb.3_Missense_Mutation_p.K650R|PPIG_uc002ufd.3_Missense_Mutation_p.K647R	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	650					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAGAGAGTAAGAGCTCACAC	0.388000														60			7		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11194521	11194521	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11194521G>A	uc001asd.3	-	36	5254	c.5133C>T	c.(5131-5133)atC>atT	p.I1711I	MTOR_uc001asc.3_5'Flank	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1711	FAT.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.I1711I(2)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGAAGGCATCGATCTGTAACA	0.542000														135			19		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863212	154863212	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863212C>T	uc003wlu.1	+	0	667	c.603C>T	c.(601-603)gcC>gcT	p.A201A	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTTCCTACGCCGTGTTCTCCA	0.612000														88			16		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86266459	86266459	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86266459G>T	uc002sqs.3	-	25	4246	c.3867C>A	c.(3865-3867)tgC>tgA	p.C1289*	POLR1A_uc010ytb.2_Nonsense_Mutation_p.C655*|POLR1A_uc002sqt.1_Nonsense_Mutation_p.C312*	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	1289					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTCCCCCAAGCACACCCTGG	0.537000														371			70		1.64915e-30	2.07716e-30	1	1	0
KDM2A	22992	broad.mit.edu	37	11	67012741	67012741	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67012741T>C	uc001ojw.3	+	13	2509	c.1645T>C	c.(1645-1647)Tta>Cta	p.L549L	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Silent_p.L243L|KDM2A_uc010rpn.2_Silent_p.L110L|KDM2A_uc001ojz.1_Silent_p.L7L	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTCCACGGTTAACACCTGT	0.547000														258			38		0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90735847	90735847	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90735847G>A	uc001xyf.3	+	8	1036	c.988G>A	c.(988-990)Gcc>Acc	p.A330T	PSMC1_uc001xyg.3_Missense_Mutation_p.A257T|PSMC1_uc001xyh.3_Missense_Mutation_p.A257T	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	330					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AGTTATCATGGCCACAAACCG	0.388000														130			14		0	0	1	0	0
WDR66	144406	broad.mit.edu	37	12	122380800	122380800	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122380800G>T	uc009zxk.3	+	7	1270	c.1111_splice	c.e7-1	p.K371_splice	WDR66_uc021rfh.1_Splice_Site_p.K371_splice	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	371							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GTCACCTACAGAAGGTATGCA	0.498000														97			26		1.75199e-13	2.04201e-13	1	1	0
SLC25A30	253512	broad.mit.edu	37	13	45976437	45976437	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45976437C>A	uc001vag.3	-	5	599	c.462G>T	c.(460-462)caG>caT	p.Q154H	SLC25A30_uc010tfs.2_Missense_Mutation_p.Q79H|SLC25A30_uc010tft.2_Missense_Mutation_p.Q103H|SLC25A30_uc001vah.3_Missense_Mutation_p.Q79H|SLC25A30_uc001vaf.3_Missense_Mutation_p.Q10H	NM_001010875	NP_001010875	Q5SVS4	KMCP1_HUMAN	Homo sapiens solute carrier family 25, member 30 (SLC25A30), nuclear gene encoding mitochondrial protein, mRNA.	154					mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TCCCCTCTTGCTGGTAAATGT	0.383000														148			17		6.49762e-13	7.53005e-13	1	1	0
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33385652G>A	uc003zst.3	-	6	910	c.738C>T	c.(736-738)gtC>gtT	p.V246V	AQP7_uc003zsu.1_Silent_p.V189V|AQP7_uc010mjs.2_Silent_p.V154V|AQP7_uc010mjt.2_Silent_p.V154V|AQP7_uc011lny.1_Silent_p.V245V|AQP7_uc003zss.3_Silent_p.V154V|AQP7_uc011lnz.1_Silent_p.V154V|AQP7_uc011loa.1_Missense_Mutation_p.L115F|AQP7_uc011lnx.1_Silent_p.V246V	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	246					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	p.V246V(2)|p.Q245L(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AGTACCTGAAGACCTGTTTGC	0.607000														190			32		0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97655719	97655719	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97655719G>A	uc003drx.3	+	15	2692	c.2628G>A	c.(2626-2628)tgG>tgA	p.W876*	CRYBG3_uc021xbn.1_Nonsense_Mutation_p.W876*					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						TCAGCAGATGGAAAACAATTG	0.413000														55			11		0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331401	28331401	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28331401G>A	uc002dpd.3	+	3	1223	c.434G>A	c.(433-435)gGg>gAg	p.G145E		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	145	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CCGCAGGTGGGGCTCCCTGAG	0.711000														14			6		0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758243	121758243	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121758243G>T	uc001uag.3	-	11	1582	c.1460C>A	c.(1459-1461)tCt>tAt	p.S487Y	ANAPC5_uc010szu.2_Missense_Mutation_p.S153Y|ANAPC5_uc001uae.3_Missense_Mutation_p.S51Y|ANAPC5_uc010szv.2_Missense_Mutation_p.S89Y|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.S375Y	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	487					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAACACTTCAGAAGCTGCAGC	0.418000														72			16		1.5739e-10	1.77479e-10	1	1	0
OTX1	5013	broad.mit.edu	37	2	63282778	63282778	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:63282778C>A	uc021vim.1	+	4	668	c.392C>A	c.(391-393)gCt>gAt	p.A131D	OTX1_uc002scd.3_Missense_Mutation_p.A131D|OTX1_uc010ypt.2_Missense_Mutation_p.A65D	NM_001199770	NP_001186699	P32242	OTX1_HUMAN	Homo sapiens orthodenticle homeobox 1 (OTX1), transcript variant 2, mRNA.	131						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACGCCGCCAGCTGTGTCCAGC	0.677000														121			38		6.70999e-13	7.77533e-13	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155298572	155298572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155298572C>T	uc003inw.2	-	2	259	c.259G>A	c.(259-261)Gga>Aga	p.G87R	DCHS2_uc003inx.2_Missense_Mutation_p.G693R	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCATAGAGTCCTGAATCTGCA	0.433000														39			10		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614447	3614447	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3614447T>C	uc010btn.3	-	4	902	c.491A>G	c.(490-492)cAt>cGt	p.H164R		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	164	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACCTGCCCATGGGCCCAGAG	0.652000														135			30		0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074447	143074447	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:143074447G>T	uc003qjd.3	-	9	7881	c.7138C>A	c.(7138-7140)Ccc>Acc	p.P2380T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGGTACAGGGCTGACCTGGC	0.542000														215			44		9.84934e-19	1.19234e-18	1	1	0
CHD7	55636	broad.mit.edu	37	8	61748784	61748784	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61748784A>G	uc003xue.3	+	15	4423	c.3931A>G	c.(3931-3933)Atc>Gtc	p.I1311V	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1311	Helicase C-terminal.				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)			CAGGGTGCTTATCTTTTCCCA	0.473000														57			11		0	0	1	0	0
FMN1	342184	broad.mit.edu	37	15	33260974	33260974	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33260974G>A	uc001zhf.4	-	3	2259	c.2259C>T	c.(2257-2259)atC>atT	p.I753I	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	976	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		AACTGGGCTCGATGGCTGGTT	0.507000														184			38		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21729846	21729846	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21729846G>A	uc001unt.3	-	7	1349	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	SKA3_uc001unu.3_Intron|SKA3_uc001unv.3_Silent_p.S326S	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	408					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTCTTTGTTGCTGACATCTC	0.363000														147			16		0	0	1	0	0
LZTR1	8216	broad.mit.edu	37	22	21345925	21345925	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21345925G>A	uc002zto.3	+	8	903	c.800G>A	c.(799-801)cGc>cAc	p.R267H	LZTR1_uc002ztn.3_Missense_Mutation_p.R226H|LZTR1_uc011ahy.2_Missense_Mutation_p.R248H|LZTR1_uc010gsr.1_Missense_Mutation_p.R138H	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	267					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R267H(4)		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)			AGGTGGACACGCATCCCAACT	0.652000														32			7		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6017315	6017315	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6017315G>A	uc003spl.3	-	13	2436	c.2349C>T	c.(2347-2349)gtC>gtT	p.V783V	PMS2_uc003spj.3_Silent_p.V677V|PMS2_uc003spk.3_Silent_p.V648V|PMS2_uc011jwl.2_Silent_p.V648V|PMS2_uc010ktg.3_Silent_p.V472V|PMS2_uc010kte.3_Silent_p.V382V|PMS2_uc010ktf.2_Missense_Mutation_p.S570L	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	783					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding	p.D782D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TCAGTTCATCGACGTCCTGGG	0.498000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					197			19		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:7231272C>T	uc010wzk.2	+	0	136	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597000														190			35		0	0	1	0	0
TPCN2	219931	broad.mit.edu	37	11	68821505	68821505	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68821505C>T	uc001oos.2	+	1	230	c.114C>T	c.(112-114)gcC>gcT	p.A38A	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Silent_p.A38A|TPCN2_uc010rqg.1_Silent_p.A38A|TPCN2_uc021qmo.1_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	38					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGCAGGTGCCGCGGCCAGGT	0.622000														84			13		0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	119122901	119122901	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:119122901C>T	uc003yok.1	-	0	1158	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	129					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGGTAACTTTCGGCGATTTTC	0.507000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses					133			35		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42867301	42867301	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42867301C>T	uc002otl.4	+	33	6594	c.5959C>T	c.(5959-5961)Cca>Tca	p.P1987S	MEGF8_uc002otm.4_Missense_Mutation_p.P1595S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2054						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ATCATCACCCCCACTGCCCTG	0.622000														47			12		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20807526	20807526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:20807526G>A	uc002npb.1	-	3	1307	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M	ZNF626_uc002npc.1_Missense_Mutation_p.T310M	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TATCTTATGCGTAGTAAGGTC	0.383000														85			16		0	0	1	0	0
TERF2	7014	broad.mit.edu	37	16	69395344	69395344	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69395344C>T	uc002exd.3	-	7	1389	c.1263G>A	c.(1261-1263)gaG>gaA	p.E421E		NM_005652	NP_005643	Q15554	TERF2_HUMAN	Homo sapiens telomeric repeat binding factor 2 (TERF2), mRNA.	421					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CCACCCAAGTCTCCTTTTCTT	0.463000														155			29		0	0	1	0	0
MORC3	23515	broad.mit.edu	37	21	37741529	37741529	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37741529G>A	uc002yvi.3	+	14	1939	c.1863G>A	c.(1861-1863)caG>caA	p.Q621Q		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	621					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	PML body|aggresome|intermediate filament cytoskeleton	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CTTGTGGCCAGACTGGTTCAA	0.453000														141			37		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156641882	156641882	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156641882G>T	uc001fpq.3	-	3	2231	c.2098C>A	c.(2098-2100)Ctg>Atg	p.L700M	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	700	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGAGACCTCAGGGGTTCCTGA	0.468000														64			30		3.00307e-07	3.23487e-07	1	1	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977944	53977944	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977944C>A	uc002rxi.4	-	2	550	c.445G>T	c.(445-447)Gaa>Taa	p.E149*	GPR75-ASB3_uc021vhl.1_Nonsense_Mutation_p.E38*|GPR75-ASB3_uc002rxg.2_Nonsense_Mutation_p.E111*|GPR75-ASB3_uc002rxh.2_Nonsense_Mutation_p.E38*|GPR75-ASB3_uc010yoo.2_Nonsense_Mutation_p.E111*	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	146					intracellular signal transduction												GTCGTTTCTTCTAAAGTAGTT	0.353000														95			13		2.68362e-12	3.09043e-12	1	1	0
CCT2	10576	broad.mit.edu	37	12	69991040	69991040	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:69991040T>G	uc001svb.1	+	10	1181	c.1087T>G	c.(1087-1089)Tct>Gct	p.S363A	CCT2_uc010stl.1_Missense_Mutation_p.S316A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	363					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CATTCACTTTTCTGGGGTTGC	0.408000														213			47		0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16254623	16254623	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16254623C>T	uc001axk.1	+	10	2092	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SPEN_uc010obp.1_Missense_Mutation_p.R589C	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	630	Arg-rich.|Tyr-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TAACCAAGATCGTACATATTA	0.408000														109			33		0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316827	40316827	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40316827C>A	uc002omj.3	-	9	1791	c.1511G>T	c.(1510-1512)aGc>aTc	p.S504I	DYRK1B_uc002omi.3_Missense_Mutation_p.S476I|DYRK1B_uc002omk.3_Missense_Mutation_p.S464I	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	504	Interaction with RANBP9.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TACCTGGGGGCTGTTCATCTC	0.597000														143			32		1.62565e-12	1.87665e-12	1	1	0
NBPF22P	285622	broad.mit.edu	37	5	85578656	85578656	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:85578656C>T	uc003kiq.2	+	0	395	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C						Homo sapiens neuroblastoma breakpoint family, member 22, pseudogene (NBPF22P), non-coding RNA.																		CCAGGAATTGCGCTCCCAGCT	0.512000														121			19		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8169597	8169597	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8169597T>C	uc002gkr.3	+	21	2888	c.2747T>C	c.(2746-2748)gTc>gCc	p.V916A	PFAS_uc010vuv.2_Missense_Mutation_p.V492A|PFAS_uc002gks.3_5'UTR	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	916					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGAGGCCTCGTCACATGCCTG	0.592000														115			27		0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242189280	242189280	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242189280C>A	uc002waz.3	-	11	1661	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	HDLBP_uc002wba.3_Missense_Mutation_p.E496D|HDLBP_uc021vzg.1_Missense_Mutation_p.E463D	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	496	KH 5.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GCTCCAGCAGCTCTCGCTTGG	0.597000														122			52		6.31075e-24	7.82795e-24	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70319396	70319396	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70319396G>T	uc001oqc.3	-	21	5042	c.4930C>A	c.(4930-4932)Cct>Act	p.P1644T	SHANK2_uc010rqn.2_Missense_Mutation_p.P1120T|SHANK2_uc001opz.3_Missense_Mutation_p.P1115T|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Missense_Mutation_p.P46T|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1331					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGACCACAGGGCTTGGGGCA	0.627000														137			28		1.42536e-11	1.62618e-11	1	1	0
GPR128	84873	broad.mit.edu	37	3	100378676	100378676	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100378676G>A	uc003duc.3	+	13	2236	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q	GPR128_uc011bhc.2_Silent_p.Q357Q|GPR128_uc003dud.3_Silent_p.Q179Q	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	656					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						AGAATAACCAGAACCTGACAA	0.438000														85			21		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1263600	1263600	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1263600C>A	uc001lta.3	+	30	5549	c.5490C>A	c.(5488-5490)tgC>tgA	p.C1830*		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1830	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCATAGAGTGCCGGGCGGAGA	0.597000														116			28		4.22769e-11	4.79992e-11	1	1	0
DENND3	22898	broad.mit.edu	37	8	142176355	142176355	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142176355G>A	uc003yvy.3	+	11	1658	c.1380G>A	c.(1378-1380)tcG>tcA	p.S460S	DENND3_uc010mep.3_Silent_p.S421S|DENND3_uc003yvz.1_Silent_p.S144S	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	460										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGAAGTCCTCGCACCTGCATG	0.552000														314			50		0	0	1	0	0
C1orf101	257044	broad.mit.edu	37	1	244724424	244724424	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244724424G>A	uc001iam.3	+	9	1543	c.1484G>A	c.(1483-1485)aGc>aAc	p.S495N	C1orf101_uc001iak.1_Missense_Mutation_p.S49N|C1orf101_uc001ial.3_Missense_Mutation_p.S495N|C1orf101_uc010pym.2_Missense_Mutation_p.S344N|C1orf101_uc010pyn.2_Missense_Mutation_p.S428N	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	495						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCAAATGACAGCATTATTCAT	0.328000														113			29		0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124856630	124856630	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124856630G>A	uc021rga.1	-	19	2862	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	NCOR2_uc021rgb.1_Silent_p.S898S|NCOR2_uc010tbb.2_Silent_p.S915S|NCOR2_uc010tbc.2_Silent_p.S897S|NCOR2_uc021rgc.1_Silent_p.S897S|NCOR2_uc010tba.2_Silent_p.S915S|NCOR2_uc001ugj.1_Silent_p.S915S	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	915					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CACTGGAGTCGCTGTCCTGGG	0.687000														156			40		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823876	38823876	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823876C>A	uc003avs.1	-	1	359	c.262G>T	c.(262-264)Gag>Tag	p.E88*	KCNJ4_uc003avt.1_Nonsense_Mutation_p.E88*|KCNJ4_uc021wpp.1_Nonsense_Mutation_p.E88*	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	88					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					GGGCTGGCCTCCAGGTCACCG	0.672000														130			26		6.32553e-13	7.33687e-13	1	1	0
PKD1	5310	broad.mit.edu	37	16	2153863	2153863	+	Missense_Mutation	SNP	C	T	T	rs78185588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2153863C>T	uc002cos.1	-	22	8404	c.8195G>A	c.(8194-8196)cGg>cAg	p.R2732Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R2732Q|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2732	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGTGCCCGCACGTCCGA	0.642000														49			13		0	0	1	0	0
DRD2	1813	broad.mit.edu	37	11	113281506	113281506	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113281506G>T	uc001pnz.3	-	6	1596	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	DRD2_uc010rwv.2_Silent_p.I424I|DRD2_uc001poa.4_Silent_p.I425I|DRD2_uc001pob.4_Silent_p.I396I	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	425					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)	AGGTGGTGTAGATGATGGGGT	0.577000														277			56		2.48254e-18	2.99813e-18	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29037105	29037105	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29037105A>C	uc001bra.3	+	8	1114	c.972A>C	c.(970-972)agA>agC	p.R324S	GMEB1_uc001bqz.3_Missense_Mutation_p.R314S|GMEB1_uc001brb.3_Missense_Mutation_p.R314S	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity	p.E323*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		TAGACAACAGAAGGAACCAAG	0.393000														119			22		0	0	1	0	0
RNF212	285498	broad.mit.edu	37	4	1066789	1066789	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1066789T>C	uc003gcj.3	-	9	867	c.767A>G	c.(766-768)tAt>tGt	p.Y256C	RNF212_uc003gci.3_3'UTR|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_3'UTR	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	256							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		TACCTCAGCATATATTGGAAG	0.527000											OREG0016028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		91			22		0	0	1	0	0
SHD	56961	broad.mit.edu	37	19	4283065	4283065	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4283065G>T	uc002lzw.2	+	2	1881	c.418G>T	c.(418-420)Ggg>Tgg	p.G140W		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	140										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCGGCAGAGGGGTGCAGCT	0.617000														108			13		4.3838e-07	4.70703e-07	1	1	0
CTR9	9646	broad.mit.edu	37	11	10793106	10793106	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10793106T>C	uc001mja.3	+	18	2536	c.2387T>C	c.(2386-2388)tTg>tCg	p.L796S		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	796					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTCAGTTATTTGAGTAAAGTG	0.328000														135			38		0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47039844	47039844	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47039844G>A	uc004dhi.3	+	11	1611	c.1382G>A	c.(1381-1383)cGc>cAc	p.R461H	RBM10_uc004dhf.3_Missense_Mutation_p.R396H|RBM10_uc004dhh.3_Missense_Mutation_p.R395H|RBM10_uc010nhq.3_Missense_Mutation_p.R319H|RBM10_uc004dhg.3_Missense_Mutation_p.R318H	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	396					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding	p.R396H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GAAGGCAGTCGCATCAGTGCT	0.627000														58			11		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21581775	21581775	+	Silent	SNP	C	T	T	rs111554917		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:21581775C>T	uc009yid.3	+	17	2064	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	NELL1_uc010rdp.2_Silent_p.N322N|NELL1_uc001mqe.3_Silent_p.N609N|NELL1_uc001mqf.3_Silent_p.N562N|NELL1_uc010rdo.2_Silent_p.N552N|NELL1_uc001mqh.3_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	609	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CCTGTTGGAACGATTCTGCCT	0.507000														167			34		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43015930	43015930	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43015930C>T	uc003otq.3	-	8	2457	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N	CUL7_uc010jyg.3_5'Flank|CUL7_uc011dvb.2_Missense_Mutation_p.D793N|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	709					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATGCAGGCATCCACGGCCTCG	0.642000														104			29		0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74806855	74806855	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:74806855G>A	uc021ptk.1	-	6	937	c.905C>T	c.(904-906)cCt>cTt	p.P302L	P4HA1_uc010qka.2_Missense_Mutation_p.P302L|P4HA1_uc001jth.3_Missense_Mutation_p.P302L|P4HA1_uc001jtg.3_Missense_Mutation_p.P302L|P4HA1_uc010qkb.2_Missense_Mutation_p.P302L|P4HA1_uc021ptj.1_Missense_Mutation_p.P302L	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	302						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTCTCCGAGGGGTCTAAAC	0.353000														65			17		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109533934	109533934	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109533934A>G	uc001dwl.3	-	8	2109	c.1733T>C	c.(1732-1734)gTc>gCc	p.V578A	WDR47_uc001dwi.3_Missense_Mutation_p.V571A|WDR47_uc001dwj.3_Missense_Mutation_p.V570A|WDR47_uc001dwk.2_Missense_Mutation_p.V542A|WDR47_uc010ovf.2_Missense_Mutation_p.V497A	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	570										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		TGGCTTAATGACCGAATGTTC	0.368000														122			12		0	0	1	0	0
CHST10	9486	broad.mit.edu	37	2	101010006	101010006	+	Missense_Mutation	SNP	C	T	T	rs3748932		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101010006C>T	uc002tam.3	-	6	1170	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	258			D -> N (in dbSNP:rs3748932).		carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						ATGATGTGGTCCCCAAACTGA	0.547000														318			54		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219490	67219490	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219490C>T	uc001olm.3	-	0	711	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCCACACGGGCGAAGCCCCGG	0.667000														153			13		0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45991740	45991740	+	Missense_Mutation	SNP	G	A	A	rs140876163	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45991740G>A	uc002pcb.3	-	8	1716	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	RTN2_uc002pcc.3_Missense_Mutation_p.R423W|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	496	Reticulon.					integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TGGTGCTGCCGGTACAGCAGG	0.567000														159			32		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7247318	7247318	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7247318C>T	uc003mxb.3	+	11	5127	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	RREB1_uc021yky.1_Silent_p.D1490D|RREB1_uc003mxc.3_Silent_p.D1490D|RREB1_uc010jnx.3_Intron|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1490					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.C1545Y(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGAAGAGCGACGATGACAAGA	0.637000														82			17		0	0	1	0	0
THAP9	79725	broad.mit.edu	37	4	83838940	83838940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83838940C>A	uc003hnt.2	+	4	1694	c.1575C>A	c.(1573-1575)aaC>aaA	p.N525K	THAP9_uc003hns.1_Missense_Mutation_p.N381K|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_Missense_Mutation_p.N242K	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	525							DNA binding|metal ion binding	p.N525K(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATAGTAGGAACTGTTATGGAA	0.338000														132			22		3.62473e-10	4.06567e-10	1	1	0
PLEKHM1P	440456	broad.mit.edu	37	17	62796142	62796142	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62796142C>T	uc002jew.4	-	5	1809	c.898G>A	c.(898-900)Gac>Aac	p.D300N	PLEKHM1P_uc002jev.3_Non-coding_Transcript|PLEKHM1P_uc010wqe.1_Missense_Mutation_p.D300N					Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 pseudogene (PLEKHM1P), non-coding RNA.																		CCTTGGGAGTCAAGGCCTTTC	0.607000														36			13		0	0	1	0	0
HIRIP3	8479	broad.mit.edu	37	16	30004620	30004620	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30004620T>C	uc002dve.3	-	6	2070	c.1579A>G	c.(1579-1581)Acc>Gcc	p.T527A	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_3'UTR	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	527					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						GAGTCCAGGGTCCGTCGGTAC	0.612000														133			37		0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8486755	8486755	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8486755G>T	uc002mjv.3	+	2	472	c.31G>T	c.(31-33)Ggc>Tgc	p.G11C	MARCH2_uc002mjw.3_Missense_Mutation_p.G11C|MARCH2_uc002mjx.3_Missense_Mutation_p.G11C	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	11					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCACCTCCCCGGCTCCCTGTG	0.672000														159			30		8.4185e-14	9.84907e-14	1	1	0
STS	412	broad.mit.edu	37	X	7252125	7252125	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:7252125C>A	uc004cry.4	+	8	1600	c.1355C>A	c.(1354-1356)gCt>gAt	p.A452D		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	452					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TACTTAAATGCTGTGCGCTGG	0.478000									Ichthyosis					111			49		1.81118e-26	2.26393e-26	1	1	0
UBQLNL	143630	broad.mit.edu	37	11	5536814	5536814	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5536814T>G	uc001maz.4	-	0	1143	c.858A>C	c.(856-858)caA>caC	p.Q286H	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	286										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CAAAAGGATCTTGCATGCTGT	0.498000														84			26		0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31735240	31735240	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31735240C>T	uc011dog.2	-	11	1926	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H	VWA7_uc003nxd.2_Missense_Mutation_p.R238H	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	563						extracellular region											CTGCCCAAAGCGGCGAGTGTG	0.597000														169			35		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179419672	179419672	+	Missense_Mutation	SNP	C	T	T	rs143193258	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179419672C>T	uc021vsy.1	-	279	81035	c.80810G>A	c.(80809-80811)cGc>cAc	p.R26937H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R20632H|TTN_uc021vta.1_Missense_Mutation_p.R20565H|TTN_uc021vtb.1_Missense_Mutation_p.R20440H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27864	Fibronectin type-III 96.						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)			ACTATTAAGGCGATCGGCATC	0.428000														57			14		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79724895	79724895	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:79724895C>T	uc011dyp.2	-	14	1654	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P	PHIP_uc003pir.3_Silent_p.P476P	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	476					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAGGATCGAACGGGTGTGGTT	0.353000														66			7		0	0	1	0	0
GGH	8836	broad.mit.edu	37	8	63927900	63927900	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:63927900T>C	uc003xuw.3	-	8	1231	c.948A>G	c.(946-948)atA>atG	p.I316M		NM_003878	NP_003869	Q92820	GGH_HUMAN	Homo sapiens gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) (GGH), mRNA.	316	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TTCAATCAAATATGTAACATT	0.299000														25			5		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148524275	148524275	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148524275C>A	uc003wfd.2	-	6	902	c.709G>T	c.(709-711)Gca>Tca	p.A237S	EZH2_uc022aov.1_Missense_Mutation_p.A198S|EZH2_uc011kug.2_Missense_Mutation_p.A228S|EZH2_uc003wfb.2_Missense_Mutation_p.A237S|EZH2_uc003wfc.2_Missense_Mutation_p.A198S|EZH2_uc011kuh.2_Missense_Mutation_p.A228S|EZH2_uc011kui.2_Missense_Mutation_p.A237S|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	237	Interaction with DNMT1, DNMT3A and DNMT3B.				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			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)			AGTTCTTCTGCTGTGCCCTTA	0.368000			Mis		DLBCL									156			14		9.31168e-06	9.81217e-06	1	1	0
TTLL6	284076	broad.mit.edu	37	17	46868909	46868909	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46868909A>G	uc021tzm.1	-	8	1090	c.1055T>C	c.(1054-1056)aTa>aCa	p.I352T	TTLL6_uc002iob.3_Missense_Mutation_p.I45T|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Missense_Mutation_p.I105T|TTLL6_uc002iod.3_Missense_Mutation_p.I199T	NM_001130918	NP_001124390	Q8N841	TTLL6_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA.	304	TTL.					cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATCCCTCCATATCTGCTCCAC	0.547000											OREG0024526	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		105			33		0	0	1	0	0
MAPK8	5599	broad.mit.edu	37	10	49612896	49612896	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:49612896G>A	uc001jgp.3	+	2	172	c.123_splice	c.e2-1	p.C41_splice	MAPK8_uc001jgn.3_Splice_Site_p.C41_splice|MAPK8_uc001jgm.3_Splice_Site_p.C41_splice|MAPK8_uc001jgo.3_Splice_Site_p.C41_splice|MAPK8_uc001jgq.3_Splice_Site_p.C41_splice|MAPK8_uc009xoa.3_Splice_Site_p.C41_splice|MAPK8_uc021ppy.1_Splice_Site_p.C41_splice|MAPK8_uc010qgk.2_Splice_Site_p.C41_splice	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	41	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		TTATTACAGCGCAGCTTATGA	0.373000														55			11		0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132169692	132169692	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132169692G>A	uc003eor.3	+	6	602	c.537_splice	c.e6+1	p.L179_splice	DNAJC13_uc010htq.2_Splice_Site_p.L179_splice	NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	179							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TAGTAGATTGGTAAGTACTAT	0.303000														23			4		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56129000	56129000	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:56129000G>A	uc010qhy.1	-	5	764	c.369C>T	c.(367-369)gtC>gtT	p.V123V	PCDH15_uc010qhq.2_Silent_p.V123V|PCDH15_uc010qhr.2_Silent_p.V118V|PCDH15_uc021pqv.1_Silent_p.V118V|PCDH15_uc021pqw.1_Silent_p.V123V|PCDH15_uc010qht.2_Silent_p.V118V|PCDH15_uc021pqx.1_Silent_p.V118V|PCDH15_uc001jjv.1_Silent_p.V96V|PCDH15_uc021pqy.1_Silent_p.V118V|PCDH15_uc021pqz.1_Silent_p.V96V|PCDH15_uc010qhv.1_Silent_p.V118V|PCDH15_uc010qhw.1_Silent_p.V118V|PCDH15_uc010qhx.1_Silent_p.V118V|PCDH15_uc010qhz.1_Silent_p.V118V|PCDH15_uc010qia.1_Silent_p.V96V|PCDH15_uc001jju.1_Silent_p.V118V|PCDH15_uc010qib.1_Silent_p.V96V|PCDH15_uc001jjw.3_Silent_p.V118V	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	118	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGATGCACTGGACCTGCACCA	0.398000										HNSCC(58;0.16)				57			10		0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985303	108985303	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108985303C>A	uc003psk.2	+	2	1583	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	FOXO3_uc003psm.2_Missense_Mutation_p.L423M|FOXO3_uc011ean.1_Missense_Mutation_p.L203M|FOXO3_uc010kdj.1_Missense_Mutation_p.L203M	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	423					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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 factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGGCTCGGGCCTGGGCTCCCC	0.602000														238			38		3.62531e-18	4.37168e-18	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5460762	5460762	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5460762A>T	uc003jdm.4	+	12	1537	c.1315A>T	c.(1315-1317)Act>Tct	p.T439S		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	439										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TAAAGTGACAACTTCTGGACT	0.433000														39			4		0	0	1	0	0
OR52I2	143502	broad.mit.edu	37	11	4608230	4608230	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4608230C>A	uc010qyh.2	+	0	210	c.188C>A	c.(187-189)gCc>gAc	p.A63D		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		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)		TCACTGAGTGCCATGTACATC	0.493000														338			67		1.55545e-33	1.96574e-33	1	1	0
SCNN1G	6340	broad.mit.edu	37	16	23226069	23226069	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23226069C>T	uc002dlm.1	+	11	1669	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	510					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	WW domain binding|ligand-gated sodium channel activity			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCTACAAAGACCTGAACCAGA	0.493000														85			17		0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51142313	51142313	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51142313G>T	uc003bne.1	+	13	1686	c.1686G>T	c.(1684-1686)cgG>cgT	p.R562R	SHANK3_uc003bnf.1_Silent_p.R17R	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	562										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGACGAAGCGGCTCTTTCGGC	0.642000														32			4		1	1	1	1	0
RGS1	5996	broad.mit.edu	37	1	192545470	192545470	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:192545470A>G	uc001gsi.1	+	1	259	c.193A>G	c.(193-195)Atg>Gtg	p.M65V	RGS1_uc010pou.1_Missense_Mutation_p.M65V	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	65					immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|calmodulin binding|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GGAATCTGGAATGAAATCTTC	0.338000														75			7		0	0	1	0	0
BPIFB6	128859	broad.mit.edu	37	20	31627288	31627288	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31627288C>T	uc010zuc.2	+	9	1036	c.1036C>T	c.(1036-1038)Cgg>Tgg	p.R346W	BPIFB6_uc010zud.2_Missense_Mutation_p.R285W	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	346						extracellular region	lipid binding										AGCTCGGTGGCGGAGCAAGGC	0.532000														193			48		0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140110839	140110839	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140110839C>T	uc004clx.3	+	13	1903	c.1792C>T	c.(1792-1794)Cgg>Tgg	p.R598W	NDOR1_uc004clw.3_Missense_Mutation_p.R589W|NDOR1_uc011mes.2_Missense_Mutation_p.R582W|NDOR1_uc004cly.3_3'UTR	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	589					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGCAGACACGGCGCTTCCA	0.682000														116			23		0	0	1	0	0
TBL2	26608	broad.mit.edu	37	7	72987671	72987671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72987671C>T	uc003tyh.3	-	3	711	c.577G>A	c.(577-579)Gac>Aac	p.D193N	TBL2_uc011kex.2_Missense_Mutation_p.D157N|TBL2_uc010lbg.3_Missense_Mutation_p.D98N|TBL2_uc003tyi.3_Missense_Mutation_p.D28N|TBL2_uc011key.2_Missense_Mutation_p.D64N	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN	Homo sapiens transducin (beta)-like 2 (TBL2), mRNA.	193										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				ATGCCAATGTCGATGACAGGC	0.522000														182			36		0	0	1	0	0
KCNK13	56659	broad.mit.edu	37	14	90650476	90650476	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90650476C>T	uc001xye.1	+	1	798	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	119						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				ACAACTCCGGCGACAGTAGGA	0.483000														157			37		0	0	1	0	0
MEGF9	1955	broad.mit.edu	37	9	123384921	123384921	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123384921G>A	uc004bkj.2	-	4	1180	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	MEGF9_uc022bms.1_Missense_Mutation_p.R306W	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	306	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						CTGGCAGACCGATTATTGCAT	0.428000														49			11		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690411	99690411	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:99690411T>G	uc001pga.3	+	3	696	c.192T>G	c.(190-192)gcT>gcG	p.A64A	CNTN5_uc009ywv.2_Silent_p.A64A|CNTN5_uc001pfz.3_Silent_p.A64A|CNTN5_uc021qpb.1_Silent_p.A64A|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	64					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S63I(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CACTGAGTGCTTCTTCACCCA	0.428000														84			6		0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127771148	127771148	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127771148C>A	uc011ebs.2	-	2	821	c.485G>T	c.(484-486)gGc>gTc	p.G162V	KIAA0408_uc003qbc.3_Missense_Mutation_p.G162V|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Missense_Mutation_p.G45V	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	162							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		ACTGAGGGCGCCAGAACAGCT	0.433000														109			25		3.01185e-09	3.33505e-09	1	1	0
SLC6A6	6533	broad.mit.edu	37	3	14518771	14518771	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518771G>T	uc010heg.3	+	10	1567	c.1268G>T	c.(1267-1269)aGg>aTg	p.R423M	SLC6A6_uc003byq.3_Missense_Mutation_p.R423M|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	423					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCCTTCCTAAGGAAGGGTTAT	0.532000														159			37		6.19805e-25	7.7128e-25	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43308239	43308239	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43308239T>G	uc003oux.3	-	10	3574	c.3496_splice	c.e10-1	p.K1166_splice	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1166					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATCCACATATTTCTGGGAAGA	0.448000														77			8		0	0	1	0	0
PLAU	5328	broad.mit.edu	37	10	75671996	75671996	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75671996G>A	uc001jwa.3	+	3	255	c.109G>A	c.(109-111)Gga>Aga	p.G37R	C10orf55_uc001jvz.2_Missense_Mutation_p.L3F|PLAU_uc010qkw.2_Missense_Mutation_p.G20R|PLAU_uc010qkx.2_5'UTR|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Missense_Mutation_p.G37R|PLAU_uc009xrq.1_Intron	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	37	Binds urokinase plasminogen activator surface receptor (By similarity).|EGF-like.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	TCTAAATGGAGGAACATGTGT	0.537000														91			23		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	989173	989173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989173C>T	uc001ack.2	+	33	5742	c.5692C>T	c.(5692-5694)Cgc>Tgc	p.R1898C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1898	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACTGAGCCTGCGCACTGAGGC	0.642000														28			6		0	0	1	0	0
NFIL3	4783	broad.mit.edu	37	9	94172259	94172259	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94172259G>A	uc022bjt.1	-	0	758	c.758C>T	c.(757-759)tCt>tTt	p.S253F	NFIL3_uc004arh.3_Missense_Mutation_p.S253F	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	253					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGAGTACCCAGAGAAAGAATT	0.498000														182			51		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67020491	67020491	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67020491C>T	uc002jhu.3	-	16	2288	c.2145G>A	c.(2143-2145)ttG>ttA	p.L715L	ABCA9_uc010dez.3_Silent_p.L715L	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	715	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CATTCAGATGCAAACTAACAT	0.303000														22			5		0	0	1	0	0
ZNF282	8427	broad.mit.edu	37	7	148921304	148921304	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148921304C>T	uc003wfm.3	+	7	1686	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	ZNF282_uc011kun.1_Intron|ZNF282_uc003wfo.3_Missense_Mutation_p.S204L	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	527					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GCAAGAGCTTCGGCGTGCGCA	0.697000														83			19		0	0	1	0	0
AF047486	0	broad.mit.edu	37	17	41020660	41020660	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41020660G>A	uc002ibx.3	+	1	288	c.75G>A	c.(73-75)gcG>gcA	p.A25A	AOC4_uc002ibw.1_3'UTR					Homo sapiens amine oxidase pseudogene mRNA, splice variant HLAO2.																		GGGGCCTTGCGGAAACGGTGC	0.507000														62			13		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52603460	52603460	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52603460C>T	uc001vgb.3	+	1	1082	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Missense_Mutation_p.L174F	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	174					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TGAACATGCGCTCAGTGGCTG	0.527000														116			24		0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47966834	47966834	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47966834C>A	uc002zjo.2	+	20	2584	c.2401C>A	c.(2401-2403)Ctg>Atg	p.L801M	DIP2A_uc011afy.1_Missense_Mutation_p.L737M|DIP2A_uc011afz.1_Missense_Mutation_p.L797M|DIP2A_uc002zjm.3_Missense_Mutation_p.L801M|DIP2A_uc010gql.3_Missense_Mutation_p.L758M|DIP2A_uc002zjn.3_Missense_Mutation_p.L801M|DIP2A_uc002zjq.3_Missense_Mutation_p.L193M	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	801					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCAGGACAACCTGGTCTTCAT	0.612000														51			13		2.32078e-09	2.57599e-09	1	1	0
PDK2	5164	broad.mit.edu	37	17	48185696	48185696	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48185696C>T	uc002iqc.3	+	7	937	c.776C>T	c.(775-777)gCg>gTg	p.A259V	PDK2_uc002iqb.3_Missense_Mutation_p.A195V|PDK2_uc021tzx.1_Missense_Mutation_p.A195V	NM_002611	NP_001186828	Q15119	PDK2_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 2 (PDK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	259	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						GCCATGAGGGCGACTGTGGAA	0.587000									Autosomal Dominant Polycystic Kidney Disease					42			13		0	0	1	0	0
GJC2	57165	broad.mit.edu	37	1	228345635	228345635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345635G>A	uc021pkg.1	+	0	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	GJC2_uc001hsk.3_Missense_Mutation_p.R59Q	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	59					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGCAACACGCGGCAGCCAGGC	0.642000														75			27		0	0	1	0	0
HAPLN3	145864	broad.mit.edu	37	15	89421380	89421380	+	Missense_Mutation	SNP	C	T	T	rs145650819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89421380C>T	uc002bnd.3	-	5	1171	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	HAPLN3_uc002bnc.3_Missense_Mutation_p.A302T|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	302					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AACTTCCAGGCGGCAAAGAGC	0.632000														415			17		0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473289	77473289	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77473289G>T	uc021sqy.1	-	4	1556	c.980C>A	c.(979-981)tCt>tAt	p.S327Y	PEAK1_uc002bcn.2_Missense_Mutation_p.S327Y|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	327	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TTGTCCATAAGAGACCACAGA	0.433000														109			25		1.64293e-13	1.91604e-13	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75975290	75975290	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75975290C>T	uc002baw.3	-	5	4635	c.4542G>A	c.(4540-4542)gaG>gaA	p.E1514E		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1514	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TGCTGGGCTGCTCGATGGTGT	0.692000														74			17		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175313	143175313	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143175313C>T	uc003wdc.1	+	0	348	c.348C>T	c.(346-348)caC>caT	p.H116H	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	116					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					ACATCACACACTCCACCTTCC	0.517000														107			8		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116283483	116283483	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116283483A>G	uc002tle.3	+	4	409	c.388A>G	c.(388-390)Aaa>Gaa	p.K130E	DPP10_uc002tla.2_Missense_Mutation_p.K126E|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Missense_Mutation_p.K76E|DPP10_uc002tlc.2_Missense_Mutation_p.K122E|DPP10_uc002tlf.2_Missense_Mutation_p.K119E	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	126					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGTAACCTTCAAAGCATCAAG	0.279000														29			10		0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111329415	111329415	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111329415G>T	uc001vrd.2	-	6	731	c.691C>A	c.(691-693)Ctg>Atg	p.L231M	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	231					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCCTTCCACAGGGCGAAGTCA	0.617000														127			29		1.74807e-11	1.99175e-11	1	1	0
HK1	3098	broad.mit.edu	37	10	71129326	71129326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71129326G>A	uc001jpl.4	+	6	922	c.821G>A	c.(820-822)cGg>cAg	p.R274Q	HK1_uc001jpg.4_Missense_Mutation_p.R262Q|HK1_uc001jph.4_Missense_Mutation_p.R278Q|HK1_uc001jpi.4_Missense_Mutation_p.R278Q|HK1_uc001jpj.4_Missense_Mutation_p.R309Q|HK1_uc001jpk.4_Missense_Mutation_p.R273Q|HK1_uc009xqd.3_Missense_Mutation_p.R152Q	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	274	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GAAGACATCCGGACAGAGTTT	0.493000														97			21		0	0	1	0	0
TMEM132E	124842	broad.mit.edu	37	17	32965106	32965106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32965106C>T	uc002hif.3	+	9	3138	c.2810C>T	c.(2809-2811)gCc>gTc	p.A937V		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	937						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GAGGAGCTGGCCTATGACTCG	0.697000														31			6		0	0	1	0	0
C6orf120	387263	broad.mit.edu	37	6	170102799	170102799	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170102799G>A	uc011egx.2	+	1	327	c.301G>A	c.(301-303)Gcc>Acc	p.A101T	WDR27_uc003qwx.3_5'Flank|WDR27_uc003qwy.3_5'Flank|WDR27_uc011egw.1_5'Flank|WDR27_uc010kkx.3_5'Flank|C6orf120_uc003qxb.3_Missense_Mutation_p.A82T	NM_001029863	NP_001025034	Q7Z4R8	CF120_HUMAN	Homo sapiens chromosome 6 open reading frame 120 (C6orf120), mRNA.	82						extracellular region		p.P101P(1)		endometrium(1)|lung(2)	3		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;9.65e-22)|BRCA - Breast invasive adenocarcinoma(81;1.29e-07)|GBM - Glioblastoma multiforme(31;0.0015)		GTACGTCTCCGCCAGCAGCCT	0.662000														140			44		0	0	1	0	0
FAM63B	54629	broad.mit.edu	37	15	59064120	59064120	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:59064120C>A	uc002afj.3	+	0	728	c.526C>A	c.(526-528)Ctg>Atg	p.L176M	FAM63B_uc002afi.3_Missense_Mutation_p.L176M|FAM63B_uc002afk.3_Non-coding_Transcript|FAM63B_uc002afl.3_Non-coding_Transcript	NM_001040450	NP_001035540	Q8NBR6	FA63B_HUMAN	Homo sapiens family with sequence similarity 63, member B (FAM63B), transcript variant 1, mRNA.	176										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CCTGGACTCTCTGGAGTCGTT	0.647000														89			20		2.94398e-08	3.21697e-08	1	1	0
NUP210L	91181	broad.mit.edu	37	1	153998021	153998021	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153998021G>A	uc001fdw.3	-	29	4191	c.4119C>T	c.(4117-4119)gtC>gtT	p.V1373V	NUP210L_uc009woq.3_Silent_p.V282V|NUP210L_uc010peh.2_Silent_p.V1373V	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1373						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AACTCACCTGGACCCCAGTTA	0.373000														198			45		0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981662	70981662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:70981662C>T	uc003xym.3	-	1	636	c.434G>A	c.(433-435)gGa>gAa	p.G145E		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGTGTCAGGTCCACAACACGG	0.587000														96			15		0	0	1	0	0
ITGB1BP3	27231	broad.mit.edu	37	19	3942256	3942256	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3942256G>A	uc010xia.2	+	6	907	c.693G>A	c.(691-693)caG>caA	p.Q231Q	ITGB1BP3_uc002lyz.4_Silent_p.Q226Q	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	226					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCGTCCCAGCAGGACAGCA	0.687000														44			12		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035357	201035357	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035357C>A	uc001gvv.3	-	21	2972	c.2745_splice	c.e21+1	p.K915_splice		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	915					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCTCTCACCTTCAACCCCT	0.652000														170			39		4.92203e-23	6.08522e-23	1	1	0
CCDC40	55036	broad.mit.edu	37	17	78032408	78032408	+	Silent	SNP	C	T	T	rs145013523	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032408C>T	uc010dht.3	+	7	1306	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	CCDC40_uc010wub.2_Silent_p.A425A|CCDC40_uc021uem.1_Silent_p.A425A|CCDC40_uc002jxm.4_Silent_p.A208A	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	425					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TAAAGAAGGCCGAGACGGAGA	0.498000														92			21		0	0	1	0	0
CHRNA10	57053	broad.mit.edu	37	11	3688708	3688708	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:3688708C>T	uc001lyf.3	-	3	721	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CHRNA10_uc010qxt.2_Missense_Mutation_p.G11S|CHRNA10_uc010qxu.2_Missense_Mutation_p.G11S	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	217					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GAGCAGCAGCCGTAGGTGAGC	0.731000														66			6		0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205967	36205967	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36205967G>T	uc002oay.3	+	1	649	c.439G>T	c.(439-441)Gag>Tag	p.E147*	ZBTB32_uc002oaz.3_Non-coding_Transcript|MLL2_uc021usu.1_5'Flank|MLL2_uc021usv.1_5'Flank	NM_014383	NP_055198	Q9Y2Y4	ZBT32_HUMAN	Homo sapiens zinc finger and BTB domain containing 32 (ZBTB32), mRNA.	147					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGACCCTGGAGAGAAGCAGAA	0.547000														86			17		0.00074312	0.000761759	1	1	0
ST5	6764	broad.mit.edu	37	11	8737215	8737215	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8737215T>C	uc001mgt.3	-	5	1966	c.1780A>G	c.(1780-1782)Aat>Gat	p.N594D	ST5_uc009yfr.3_Missense_Mutation_p.N174D|ST5_uc001mgu.3_Missense_Mutation_p.N174D|ST5_uc001mgv.3_Missense_Mutation_p.N594D|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.N107D	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	594					positive regulation of ERK1 and ERK2 cascade		protein binding	p.N594S(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGTCTTCATTGAGGCTGGAG	0.657000														193			50		0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931407	150931407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150931407C>T	uc003eyr.1	-	2	1176	c.698G>A	c.(697-699)cGc>cAc	p.R233H	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.R233H|P2RY14_uc021xfz.1_Missense_Mutation_p.R233H	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	233						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATATGTTGCGGCTAGATTT	0.388000														134			25		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79253164	79253164	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79253164G>A	uc010mpk.3	-	12	8893	c.8769C>T	c.(8767-8769)gcC>gcT	p.A2923A	PRUNE2_uc011lsk.2_Silent_p.A172A|PRUNE2_uc011lsl.2_Silent_p.A187A|PRUNE2_uc011lsm.2_Silent_p.A188A|PRUNE2_uc004akj.4_Silent_p.A377A|PRUNE2_uc022big.1_Intron	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2923	CRAL-TRIO.				G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAAAACAGGCGGCAAACACAA	0.418000														58			14		0	0	1	0	0
DISC1	27185	broad.mit.edu	37	1	231829955	231829955	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:231829955G>T	uc010pxh.2	+	1	504	c.451G>T	c.(451-453)Gat>Tat	p.D151Y	DISC1_uc010pwe.2_Missense_Mutation_p.D106Y|DISC1_uc010pwf.2_Missense_Mutation_p.D106Y|DISC1_uc010pwj.1_Missense_Mutation_p.D140Y|DISC1_uc010pwk.1_Missense_Mutation_p.D140Y|DISC1_uc010pwg.1_Missense_Mutation_p.D140Y|DISC1_uc010pwh.1_Missense_Mutation_p.D106Y|DISC1_uc010pwi.1_Missense_Mutation_p.D106Y|DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pwp.2_Missense_Mutation_p.D151Y|DISC1_uc010pwo.2_Missense_Mutation_p.D151Y|DISC1_uc010pwq.2_Missense_Mutation_p.D151Y|DISC1_uc010pwr.1_Missense_Mutation_p.D151Y|DISC1_uc010pws.1_Missense_Mutation_p.D151Y|DISC1_uc010pwt.1_Missense_Mutation_p.D151Y|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.2_Non-coding_Transcript|DISC1_uc010pwx.2_Non-coding_Transcript|DISC1_uc010pww.2_Missense_Mutation_p.D151Y|DISC1_uc001huy.3_Missense_Mutation_p.D151Y|DISC1_uc010pwy.2_Non-coding_Transcript|DISC1_uc010pwz.2_Non-coding_Transcript|DISC1_uc010pxa.2_Non-coding_Transcript|DISC1_uc010pxb.1_Missense_Mutation_p.D151Y|DISC1_uc010pxc.1_Missense_Mutation_p.D151Y|DISC1_uc010pxe.2_Missense_Mutation_p.D151Y|DISC1_uc010pxf.2_Missense_Mutation_p.D151Y|DISC1_uc010pxg.2_Missense_Mutation_p.D151Y|DISC1_uc010pxd.2_5'UTR|DISC1_uc009xfr.3_Missense_Mutation_p.D106Y|DISC1_uc010pxn.1_5'UTR|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Missense_Mutation_p.D151Y|DISC1_uc001huz.3_Missense_Mutation_p.D151Y|DISC1_uc001hva.3_Missense_Mutation_p.D151Y|DISC1_uc010pwm.2_Missense_Mutation_p.D151Y|DISC1_uc001hvc.3_Missense_Mutation_p.D151Y|DISC1_uc010pwn.1_Missense_Mutation_p.D151Y|DISC1_uc021pkn.1_Missense_Mutation_p.D151Y|DISC1_uc001hux.1_Missense_Mutation_p.D151Y	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	151	Interaction with MAP1A.				Wnt receptor signaling pathway|microtubule cytoskeleton organization|neuron migration|positive regulation of Wnt receptor signaling pathway|positive regulation of neuroblast proliferation	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				TGCAGCCATGGATAGTTCTGA	0.612000														135			13		0.00136819	0.00139829	1	1	0
GSTCD	79807	broad.mit.edu	37	4	106640462	106640462	+	Missense_Mutation	SNP	G	T	T	rs145276245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106640462G>T	uc003hxz.4	+	2	744	c.672G>T	c.(670-672)caG>caT	p.Q224H	GSTCD_uc003hxx.2_Missense_Mutation_p.Q224H|GSTCD_uc003hxy.4_Missense_Mutation_p.Q137H|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.Q224H	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	224	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		TCCACACACAGGAAACATCTG	0.483000														116			20		5.03518e-11	5.70985e-11	1	1	0
USP33	23032	broad.mit.edu	37	1	78201795	78201795	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78201795C>T	uc001dht.3	-	6	840	c.493G>A	c.(493-495)Gta>Ata	p.V165I	USP33_uc001dhu.3_Missense_Mutation_p.V134I|USP33_uc001dhv.3_5'UTR|USP33_uc001dhw.3_Missense_Mutation_p.V165I	NM_015017	NP_963918	Q8TEY7	UBP33_HUMAN	Homo sapiens ubiquitin specific peptidase 33 (USP33), transcript variant 1, mRNA.	165					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	VCB complex|perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TCATCAAATACGGCAACCAGA	0.343000														50			13		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305331	43305331	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43305331C>T	uc003oux.3	-	9	6483	c.6405G>A	c.(6403-6405)atG>atA	p.M2135I	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2135					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTCCTCAGGCATCATTCCTC	0.458000														68			18		0	0	1	0	0
PCK2	5106	broad.mit.edu	37	14	24567497	24567497	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24567497C>T	uc001wlt.3	+	2	493	c.361C>T	c.(361-363)Caa>Taa	p.Q121*	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Nonsense_Mutation_p.Q121*|PCK2_uc010tnw.2_5'UTR|PCK2_uc010ald.2_5'UTR|PCK2_uc010ale.2_5'UTR|PCK2_uc010tnx.2_5'UTR|PCK2_uc001wlu.4_5'UTR	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	121				Q -> P (in Ref. 1; CAA63380, 2; CAA72272 and 5; AAH01454).	gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGACACGGTACAACTCCCGCC	0.627000														74			21		0	0	1	0	0
CHST8	64377	broad.mit.edu	37	19	34263210	34263210	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34263210C>T	uc002nus.4	+	4	1022	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	CHST8_uc002nut.4_Missense_Mutation_p.R173C|CHST8_uc002nuu.3_Missense_Mutation_p.R173C	NM_001127895	NP_071912	Q9H2A9	CHST8_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA.	173					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GAGCAGCAGCCGCCGGGCCGT	0.706000														88			26		0	0	1	0	0
KLHL36	79786	broad.mit.edu	37	16	84690700	84690700	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84690700G>A	uc002fig.3	+	2	428	c.287G>A	c.(286-288)gGg>gAg	p.G96E	KLHL36_uc010chl.3_Missense_Mutation_p.G95E	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	96	BTB.									endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCCTACATTGGGCTCAAGGCC	0.607000														145			44		0	0	1	0	0
CDC25B	994	broad.mit.edu	37	20	3785572	3785572	+	Silent	SNP	C	T	T	rs514521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3785572C>T	uc002wjn.3	+	15	2485	c.1707C>T	c.(1705-1707)agC>agT	p.S569S	CDC25B_uc010zqk.2_Silent_p.S505S|CDC25B_uc010zql.2_Silent_p.S491S|CDC25B_uc010zqm.2_Silent_p.S478S|CDC25B_uc002wjl.3_Silent_p.S457S|CDC25B_uc002wjm.3_Silent_p.S457S|CDC25B_uc021waa.1_Silent_p.S416S|CDC25B_uc002wjo.3_Silent_p.S555S|CDC25B_uc002wjp.3_Silent_p.S528S|CDC25B_uc002wjq.3_Silent_p.S369S	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	569					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						GGGAGCGGAGCCGGCGGGAGC	0.647000														185			39		0	0	1	0	0
ZDHHC6	64429	broad.mit.edu	37	10	114190566	114190566	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114190566C>T	uc001kzv.3	-	10	1662	c.1238G>A	c.(1237-1239)aGa>aAa	p.R413K	ZDHHC6_uc001kzw.3_Missense_Mutation_p.R409K	NM_022494	NP_071939	Q9H6R6	ZDHC6_HUMAN	Homo sapiens zinc finger, DHHC-type containing 6 (ZDHHC6), mRNA.	413						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		CAGCAGCTATCTATTTTTCTT	0.373000														73			13		0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36169888	36169888	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36169888G>A	uc003zzb.4	+	0	500	c.389G>A	c.(388-390)cGt>cAt	p.R130H		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	130					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCCATCTGCCGTGCCAACTGC	0.507000														149			27		0	0	1	0	0
PPYR1	5540	broad.mit.edu	37	10	47087512	47087512	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47087512G>A	uc001jee.3	+	2	1148	c.729G>A	c.(727-729)agG>agA	p.R243R	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.R243R|PPYR1_uc021ppu.1_Silent_p.R243R	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	243					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						GCCTGCAGAGGCAGGGGCGCG	0.597000														322			23		0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11340313	11340313	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11340313G>T	uc003bwc.3	+	1	261	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_uc003bwd.3_Missense_Mutation_p.K48N|ATG7_uc011aum.2_Missense_Mutation_p.K48N	NM_006395	NP_006386	O95352	ATG7_HUMAN	Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA.	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428000														203			27		4.59853e-10	5.14677e-10	1	1	0
FAT4	79633	broad.mit.edu	37	4	126242264	126242264	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242264G>T	uc003ifj.4	+	0	4698	c.4698G>T	c.(4696-4698)gaG>gaT	p.E1566D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1566	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGAGTATGAGATCATCAATG	0.473000														216			53		3.39706e-21	4.16481e-21	1	1	0
IQSEC3	440073	broad.mit.edu	37	12	271138	271138	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:271138C>A	uc001qhw.2	+	7	2490	c.2490C>A	c.(2488-2490)atC>atA	p.I830I	IQSEC3_uc001qhu.1_Silent_p.I527I	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	830	SEC7.				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)		TGGTAGGCATCTATGAGAGGA	0.577000														45			11		0.0692343	0.0695478	1	1	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10224727	10224727	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10224727C>A	uc002mnc.3	+	1	639	c.438C>A	c.(436-438)gcC>gcA	p.A146A	PPAN-P2RY11_uc002mna.3_Silent_p.A566A|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAAGCACGCCTGGGCCGTGA	0.677000														165			22		1.28384e-07	1.38782e-07	1	1	0
LEPRE1	64175	broad.mit.edu	37	1	43213396	43213396	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43213396T>C	uc001chx.4	-	12	2025	c.1912A>G	c.(1912-1914)Acg>Gcg	p.T638A	LEPRE1_uc001chw.2_Missense_Mutation_p.T638A|LEPRE1_uc001chv.2_Missense_Mutation_p.T638A	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	638	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GCACTCACCGTCACGGTCTTG	0.473000											OREG0013422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		224			65		0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554451	152554451	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554451G>T	uc003ezq.3	+	0	1716	c.880G>T	c.(880-882)Gca>Tca	p.A294S		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	294					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.P293Q(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			TCAGACCCCAGCAATGTGTGC	0.458000														123			20		1.33834e-09	1.48855e-09	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215793638	215793638	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215793638G>A	uc001hks.3	+	17	2420	c.2126G>A	c.(2125-2127)aGa>aAa	p.R709K	KCTD3_uc001hkt.3_Missense_Mutation_p.R707K|KCTD3_uc010pub.2_Missense_Mutation_p.R607K|KCTD3_uc009xdn.3_Missense_Mutation_p.R433K	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	709						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		ATATCTGAGAGAAAGTCTCCT	0.383000														109			28		0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112216845	112216845	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112216845G>A	uc004bed.2	-	4	411	c.299C>T	c.(298-300)cCc>cTc	p.P100L	PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.P100L|PTPN3_uc011lwh.1_Intron|PTPN3_uc004bee.4_3'UTR	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	100	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CAGGGTACAGGGGAAACCTCC	0.333000														117			6		0	0	1	0	0
GSK3B	2932	broad.mit.edu	37	3	119812208	119812208	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119812208C>T	uc003edo.3	-	0	1057	c.74G>A	c.(73-75)aGc>aAc	p.S25N	GSK3B_uc003edn.3_Missense_Mutation_p.S25N|BC035247_uc003edp.3_5'Flank	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	25					ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding	p.S25C(1)		endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	AACTTTCATGCTGCCAAAAGC	0.468000														160			25		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155646536	155646536	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155646536A>C	uc010pgi.2	-	4	732	c.540_splice	c.e4-1	p.R180_splice	GON4L_uc021paz.1_Splice_Site_p.R42_splice|GON4L_uc010pgg.2_Splice_Site|GON4L_uc010pgh.2_Splice_Site_p.R31_splice|GON4L_uc009wqt.3_Splice_Site_p.R31_splice|GON4L_uc001flh.3_Splice_Site_p.R180_splice|GON4L_uc001fll.3_Splice_Site_p.R42_splice|GON4L_uc001flk.3_Splice_Site_p.R31_splice|GON4L_uc001flm.3_Splice_Site_p.R31_splice|GON4L_uc009wqu.3_Splice_Site|GON4L_uc009wqv.3_Splice_Site|GON4L_uc009wqw.3_Splice_Site_p.R31_splice|GON4L_uc001flj.3_Splice_Site_p.R42_splice|GON4L_uc001fli.3_Splice_Site_p.R42_splice|GON4L_uc001flo.3_Splice_Site|GON4L_uc001fln.3_Splice_Site_p.R108_splice|GON4L_uc010pgj.2_Splice_Site_p.R108_splice|GON4L_uc001flp.3_Splice_Site_p.R42_splice|GON4L_uc009wqx.3_Splice_Site_p.R180_splice|GON4L_uc010pgk.2_Splice_Site_p.R180_splice	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	631					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTCCTCAAACCTATCCCAA	0.408000														94			16		0	0	1	0	0
NDUFB4	4710	broad.mit.edu	37	3	120315332	120315332	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120315332G>A	uc003edu.3	+	0	205	c.126G>A	c.(124-126)caG>caA	p.Q42Q	NDUFB4_uc003edt.3_Silent_p.Q42Q	NM_004547	NP_004538	O95168	NDUB4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 4, 15kDa (NDUFB4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	42					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|large_intestine(1)|lung(3)	5				GBM - Glioblastoma multiforme(114;0.14)	NADH(DB00157)	TAAGAGCCCAGCTGAAACGAG	0.632000														55			17		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44687259	44687259	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44687259C>T	uc003tln.3	+	3	577	c.418C>T	c.(418-420)Cga>Tga	p.R140*	OGDH_uc003tlm.3_Nonsense_Mutation_p.R140*|OGDH_uc011kbx.2_Intron|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Intron|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CTCATAGATACGAGGGCACCA	0.458000														86			12		0	0	1	0	0
SPRR2A	6700	broad.mit.edu	37	1	153029119	153029119	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153029119C>A	uc021ozr.1	-	0	93	c.93G>T	c.(91-93)aaG>aaT	p.K31N	SPRR2A_uc001fbf.3_Non-coding_Transcript|SPRR2A_uc001fbd.3_Missense_Mutation_p.K31N	NM_005988	NP_005979	P35326	SPR2A_HUMAN	Homo sapiens small proline-rich protein 2A (SPRR2A), mRNA.	31	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-P.				keratinization	cornified envelope|cytoplasm	binding			large_intestine(2)|ovary(1)	3	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTCAGGGCACTTCGGGGGTG	0.622000														208			64		2.35699e-46	3.0042e-46	1	1	0
POLR3E	55718	broad.mit.edu	37	16	22320292	22320292	+	Missense_Mutation	SNP	G	A	A	rs145630346	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22320292G>A	uc002dkk.3	+	4	368	c.212G>A	c.(211-213)cGc>cAc	p.R71H	POLR3E_uc002dkj.1_Missense_Mutation_p.R71H|POLR3E_uc002dkm.3_Missense_Mutation_p.R35H|POLR3E_uc010vbr.2_Missense_Mutation_p.R71H|POLR3E_uc002dkl.3_Missense_Mutation_p.R71H|POLR3E_uc010vbs.2_Missense_Mutation_p.R35H|POLR3E_uc010vbt.2_Intron	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	71					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		AACTATTGCCGCAGCAAAGGG	0.617000														148			41		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87047935	87047935	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87047935T>C	uc003uiv.1	-	20	2471	c.2395_splice	c.e20-1	p.D799_splice	ABCB4_uc003uiw.1_Splice_Site_p.D799_splice|ABCB4_uc003uix.1_Splice_Site_p.D799_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	799	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAGCTCATGTCCTATGGCAT	0.418000														70			12		0	0	1	0	0
FHL3	2275	broad.mit.edu	37	1	38463501	38463501	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38463501C>T	uc001cck.3	-	4	722	c.543G>A	c.(541-543)tgG>tgA	p.W181*	FHL3_uc001ccm.3_Nonsense_Mutation_p.W73*|FHL3_uc009vvl.2_3'UTR	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	181	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATTCTCGATGCCACGGCTGAT	0.587000														144			12		0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23236306C>A	uc003svu.3	+	4	789	c.530C>A	c.(529-531)tCt>tAt	p.S177Y	NUPL2_uc003svv.3_Non-coding_Transcript|NUPL2_uc011jyw.2_Non-coding_Transcript|NUPL2_uc011jyx.2_5'UTR	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308000														45			13		1.49906e-05	1.573e-05	1	1	0
CACNA1D	776	broad.mit.edu	37	3	53529248	53529248	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53529248G>A	uc003dgv.4	+	0	218	c.55G>A	c.(55-57)Gac>Aac	p.D19N	CACNA1D_uc003dgu.4_Missense_Mutation_p.D19N|CACNA1D_uc003dgy.4_Missense_Mutation_p.D19N	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	19					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GCAGCAAGCGGACCACGCGAA	0.587000														226			10		0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40513257	40513257	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40513257A>G	uc002oms.2	+	4	504	c.248A>G	c.(247-249)gAc>gGc	p.D83G	ZNF546_uc002omt.2_Missense_Mutation_p.D57G	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	83	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTGCAGAGGGACTTGTACAAG	0.458000														98			25		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112154761	112154761	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112154761T>C	uc003kpz.4	+	10	1225	c.1032T>C	c.(1030-1032)tgT>tgC	p.C344C	APC_uc011cvt.2_Silent_p.C326C|APC_uc003kpy.4_Silent_p.C344C|APC_uc010jbz.3_Silent_p.C61C|APC_uc010jca.3_5'Flank	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	344	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAGACAGCTGTATATCCATGC	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				138			35		0	0	1	0	0
G6PC3	92579	broad.mit.edu	37	17	42153230	42153230	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42153230T>G	uc002iex.3	+	5	1096	c.860T>G	c.(859-861)cTt>cGt	p.L287R	G6PC3_uc002iey.3_Missense_Mutation_p.L162R|G6PC3_uc002iez.3_Missense_Mutation_p.L162R	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.	287					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		ATAGCCTGCCTTGTGCTGGCC	0.622000														198			49		0	0	1	0	0
MLXIPL	51085	broad.mit.edu	37	7	73010506	73010506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73010506G>A	uc003tyn.1	-	12	2083	c.2035C>T	c.(2035-2037)Ctc>Ttc	p.L679F	MLXIPL_uc003tyj.1_Missense_Mutation_p.L58F|MLXIPL_uc003tyk.1_Missense_Mutation_p.L677F|MLXIPL_uc003tym.1_Missense_Mutation_p.L679F|MLXIPL_uc003tyl.1_Missense_Mutation_p.L677F|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.L585F	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	679					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				TGGGCACTGAGTGTGCTCACG	0.627000														121			33		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560429	32560429	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560429T>C	uc001wrl.3	+	1	793	c.554T>C	c.(553-555)gTc>gCc	p.V185A	ARHGAP5_uc001wrm.3_Missense_Mutation_p.V185A|ARHGAP5_uc001wrn.3_Missense_Mutation_p.V185A|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	185					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AACCTTTTTGTCCAGTTATCA	0.328000														102			27		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72017193	72017193	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72017193T>C	uc001swo.2	-	23	5050	c.4691A>G	c.(4690-4692)cAa>cGa	p.Q1564R		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1564					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGAACAGCTTGCCATGGCAT	0.299000														60			11		0	0	1	0	0
NSMCE4A	54780	broad.mit.edu	37	10	123724800	123724800	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123724800C>T	uc001lfs.3	-	5	816	c.753_splice	c.e5+1	p.Q251_splice	NSMCE4A_uc009xzv.3_Splice_Site_p.Q251_splice|NSMCE4A_uc010qtu.1_Splice_Site_p.Q92_splice|NSMCE4A_uc001lfu.2_Splice_Site_p.Q251_splice	NM_017615	NP_060085	Q9NXX6	NSE4A_HUMAN	Homo sapiens non-SMC element 4 homolog A (S. cerevisiae) (NSMCE4A), transcript variant 1, mRNA.	251										breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	6		all_neural(114;0.138)|Glioma(114;0.222)				TTAAAACAAACCTGGGCAGGC	0.403000														82			20		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516521	195516521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195516521G>A	uc021xjp.1	-	1	2086	c.1930C>T	c.(1930-1932)Cag>Tag	p.Q644*	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Nonsense_Mutation_p.Q526*	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	649					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGTGGTCTGCGGGGCTTGA	0.527000														281			61		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848612	73848612	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848612T>G	uc003xzb.3	+	2	1610	c.1022T>G	c.(1021-1023)tTt>tGt	p.F341C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	341					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TTGATATTGTTTCTGGCCATG	0.468000														204			51		0	0	1	0	0
PLA2G6	8398	broad.mit.edu	37	22	38516823	38516823	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38516823T>C	uc003auy.1	-	11	1821	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G	PLA2G6_uc003auz.1_Missense_Mutation_p.E508G|PLA2G6_uc003ava.1_Missense_Mutation_p.E562G|PLA2G6_uc003avb.2_Missense_Mutation_p.E508G|PLA2G6_uc010gxk.1_Non-coding_Transcript	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	562					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CTTCAGGAACTCCTCCAGGGG	0.622000														258			49		0	0	1	0	0
SPON2	10417	broad.mit.edu	37	4	1165096	1165096	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1165096G>A	uc003gco.4	-	2	728	c.399C>T	c.(397-399)acC>acT	p.T133T	SPON2_uc021xkj.1_Silent_p.T133T|SPON2_uc010ibr.3_Silent_p.T133T|SPON2_uc003gcm.1_Silent_p.T51T	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	133	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		ACGTCTGCCCGGTGCCGCTGG	0.791000														38			12		0	0	1	0	0
ARFGAP1	55738	broad.mit.edu	37	20	61907992	61907992	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61907992T>G	uc002yem.3	+	3	443	c.331T>G	c.(331-333)Ttt>Gtt	p.F111V	ARFGAP1_uc011aas.1_Missense_Mutation_p.F58V|ARFGAP1_uc011aat.1_Silent_p.S31S|ARFGAP1_uc002yel.3_Missense_Mutation_p.F111V|ARFGAP1_uc002yen.3_Missense_Mutation_p.F111V	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	111	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CGCGGCCCTCTTTAGGGATAA	0.562000														67			12		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150558089	150558089	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150558089C>T	uc003why.1	+	5	6266	c.2048C>T	c.(2047-2049)cCc>cTc	p.P683L	ABP1_uc003whz.1_Missense_Mutation_p.P683L|ABP1_uc003wia.1_Missense_Mutation_p.P702L	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	683					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGGACATTCCCAACACAGCC	0.622000														132			27		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129687448	129687448	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129687448C>T	uc021zfb.1	+	32	4907	c.4802C>T	c.(4801-4803)cCg>cTg	p.P1601L	LAMA2_uc003qbn.3_Missense_Mutation_p.P1601L|LAMA2_uc003qbo.3_Missense_Mutation_p.P1601L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1601	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCACTGGTCCGCTGCCTGCG	0.512000														111			25		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155157313	155157313	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155157313T>G	uc003inw.2	-	24	7126	c.7126A>C	c.(7126-7128)Aca>Cca	p.T2376P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2376	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ATATCCCCTGTCAAAGGGTCA	0.418000														135			13		0	0	1	0	0
CAB39	51719	broad.mit.edu	37	2	231657983	231657983	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231657983C>T	uc002vqx.3	+	3	767	c.335C>T	c.(334-336)aCg>aTg	p.T112M	CAB39_uc010fxr.3_Missense_Mutation_p.T112M|CAB39_uc010fxq.3_Missense_Mutation_p.T112M	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA.	112					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CAAATTGGTACGAGAACTCCT	0.328000														102			8		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749615	2749615	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749615G>A	uc003jda.3	-	1	778	c.536C>T	c.(535-537)aCc>aTc	p.T179I	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Missense_Mutation_p.T179I	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T179>I(2)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGCCCAGGTCATCTTGTT	0.602000														197			52		0	0	1	0	0
MDFIC	29969	broad.mit.edu	37	7	114655944	114655944	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:114655944C>A	uc003vhf.3	+	4	1286	c.696C>A	c.(694-696)tgC>tgA	p.C232*		NM_001166345	NP_001159817	Q9P1T7	MDFIC_HUMAN	Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA.	232	Cys-rich.				activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	Tat protein binding|cyclin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CATCAGACTGCTTGGAAATCT	0.403000														245			44		1.52319e-26	1.90459e-26	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24419480	24419480	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24419480C>T	uc001bin.4	-	9	1210	c.1047G>A	c.(1045-1047)tcG>tcA	p.S349S	MYOM3_uc001bim.4_Silent_p.S6S|MYOM3_uc001bio.3_Silent_p.S349S|MYOM3_uc001bip.1_Silent_p.S6S	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	349	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTCCGAAGGGCGAGGGCACCC	0.647000														54			8		0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35486405	35486405	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35486405G>A	uc002hnm.3	-	46	5910	c.5719C>T	c.(5719-5721)Cac>Tac	p.H1907Y	ACACA_uc002hnk.3_Missense_Mutation_p.H1829Y|ACACA_uc002hnl.3_Missense_Mutation_p.H1849Y|ACACA_uc002hnn.3_Missense_Mutation_p.H1907Y|ACACA_uc002hno.3_Missense_Mutation_p.H1944Y|ACACA_uc010cuy.3_Missense_Mutation_p.H552Y|ACACA_uc010wdc.2_Missense_Mutation_p.H33Y	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1907	Carboxyltransferase.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ACTGAACTGTGCACGCTCTAA	0.478000														62			6		0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704517	143704517	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143704517G>A	uc003evo.3	+	1	1325	c.790G>A	c.(790-792)Gct>Act	p.A264T	C3orf58_uc011bnl.2_Missense_Mutation_p.A55T	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	264						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACCTCGCTTGGCAATT	0.418000														190			47		0	0	1	0	0
TYW5	129450	broad.mit.edu	37	2	200820134	200820134	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:200820134C>T	uc002uvi.4	-	0	326	c.60G>A	c.(58-60)atG>atA	p.M20I	TYW5_uc002uvj.4_5'UTR|TYW5_uc002uvk.4_Non-coding_Transcript|TYW5_uc010fss.3_5'UTR|TYW5_uc002uvl.3_Missense_Mutation_p.M20I|C2orf47_uc002uvm.3_Intron	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	Homo sapiens tRNA-yW synthesizing protein 5 (TYW5), transcript variant 1, mRNA.	20					wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1)	8						AGAGGTGCTGCATGAACTGCT	0.622000														58			4		0	0	1	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58183663	58183663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58183663C>T	uc003djo.1	-	5	686	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	DNASE1L3_uc011bfd.1_Missense_Mutation_p.V167I|DNASE1L3_uc003djp.1_Missense_Mutation_p.V197I|DNASE1L3_uc003djq.1_Missense_Mutation_p.V197I	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	197					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TTCTTGGGGACGTAGCTGCAG	0.512000														87			12		0	0	1	0	0
C11orf87	399947	broad.mit.edu	37	11	109294503	109294503	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:109294503G>T	uc021qqf.1	+	0	144	c.144G>T	c.(142-144)acG>acT	p.T48T	C11orf87_uc010rwb.2_Silent_p.T48T	NM_207645	NP_997528	Q6NUJ2	CK087_HUMAN	Homo sapiens chromosome 11 open reading frame 87 (C11orf87), mRNA.	48						integral to membrane		p.T48M(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						CCTGCATCACGCAGGTGGGAC	0.637000														132			10		1.58986e-06	1.69271e-06	1	1	0
VWF	7450	broad.mit.edu	37	12	6128448	6128448	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6128448C>T	uc001qnn.1	-	27	4386	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1379	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.R1379C(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CAGGGTGATGCGGGAGGCTTC	0.577000														179			26		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23528517	23528517	+	Missense_Mutation	SNP	C	A	A	rs140209940		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528517C>A	uc001wit.4	-	18	4194	c.3866G>T	c.(3865-3867)aGg>aTg	p.R1289M	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.R531M|ACIN1_uc001wiq.4_Missense_Mutation_p.R531M|ACIN1_uc001wir.4_Missense_Mutation_p.R562M|ACIN1_uc001wis.4_Missense_Mutation_p.R970M|ACIN1_uc010akg.3_Missense_Mutation_p.R1276M|ACIN1_uc010tnj.2_Missense_Mutation_p.R1249M	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1289	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ctctctctccctgtccctctc	0.612000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		108			25		5.45024e-15	6.43213e-15	1	1	0
DUSP7	1849	broad.mit.edu	37	3	52087977	52087977	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52087977G>T	uc003dct.3	-	1	1010	c.931C>A	c.(931-933)Cct>Act	p.P311T	DUSP7_uc010hma.2_Missense_Mutation_p.P311T	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	311	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGGCCTCAGGGAAGAACTGG	0.612000														166			41		8.20599e-20	9.98962e-20	1	1	0
TMEM51	55092	broad.mit.edu	37	1	15541680	15541680	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15541680C>A	uc001avw.4	+	2	616	c.97C>A	c.(97-99)Ctg>Atg	p.L33M	TMEM51_uc010obk.2_Missense_Mutation_p.L33M|TMEM51_uc001avz.3_Missense_Mutation_p.L33M|TMEM51_uc001avy.3_Missense_Mutation_p.L33M|TMEM51_uc001avx.3_Missense_Mutation_p.L33M	NM_001136216	NP_060492	Q9NW97	TMM51_HUMAN	Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA.	33						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CATGTGGAACCTGGTACCCGG	0.622000														343			32		4.74835e-14	5.56603e-14	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70503819	70503819	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70503819C>T	uc001dep.3	+	18	2228	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	LRRC7_uc009wbg.3_Missense_Mutation_p.P17L|LRRC7_uc001deq.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	733						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTCCCACAGCCTCTTGATTCA	0.498000														327			27		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166785764	166785764	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166785764G>T	uc002udk.3	-	10	1400	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	TTC21B_uc002udl.3_Missense_Mutation_p.L423M	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	423						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGAGTGTCCAGGACATCATTT	0.303000														37			9		3.09899e-07	3.33423e-07	1	1	0
WARS	7453	broad.mit.edu	37	14	100828156	100828156	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100828156C>A	uc001yhh.1	-	2	583	c.202G>T	c.(202-204)Gca>Tca	p.A68S	WARS_uc001yhi.1_Missense_Mutation_p.A27S|WARS_uc001yhg.2_Missense_Mutation_p.A68S|WARS_uc001yhl.1_Missense_Mutation_p.A68S|WARS_uc001yhk.1_Missense_Mutation_p.A27S|WARS_uc010twz.1_Missense_Mutation_p.A68S	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	68					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTGGTAGGTGCTGGGTTCCCT	0.483000														151			33		7.11191e-15	8.38269e-15	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34029338	34029338	+	Silent	SNP	C	T	T	rs144736542		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34029338C>T	uc001wru.3	+	4	544	c.480C>T	c.(478-480)ggC>ggT	p.G160G	NPAS3_uc001wrs.3_Silent_p.G147G|NPAS3_uc001wrv.3_Silent_p.G130G|NPAS3_uc001wrt.3_Silent_p.G128G|NPAS3_uc001wrw.3_Silent_p.G58G	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	160	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCTGGATGGCTTTGTATTTG	0.318000														71			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229528	140229528	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229528A>G	uc003lhu.2	+	0	2172	c.1448A>G	c.(1447-1449)gAc>gGc	p.D483G	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_uc003lht.1_Missense_Mutation_p.D483G	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	497	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGACGCTGACGCGCAGGAG	0.662000														337			86		0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862042	108862042	+	Nonsense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108862042A>C	uc001vqn.3	-	1	1848	c.1575T>G	c.(1573-1575)taT>taG	p.Y525*	LIG4_uc001vqo.3_Nonsense_Mutation_p.Y525*|LIG4_uc010agf.3_Nonsense_Mutation_p.Y525*|LIG4_uc001vqp.3_Nonsense_Mutation_p.Y525*|LIG4_uc010agg.1_Nonsense_Mutation_p.Y458*|LIG4_uc021rmk.1_Nonsense_Mutation_p.Y525*	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	525					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGGCTTCCAATACTTGGCCA	0.428000								Non-homologous end-joining						166			32		0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6422833	6422833	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6422833C>T	uc001mdb.1	-	8	1568	c.1468G>A	c.(1468-1470)Gcc>Acc	p.A490T	APBB1_uc001mdd.3_Missense_Mutation_p.A270T|APBB1_uc001mdc.1_Missense_Mutation_p.A490T|APBB1_uc010rab.2_Missense_Mutation_p.A17T|APBB1_uc010rad.2_Missense_Mutation_p.A209T	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	492	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGGCTGGTGGCGATGTTCTTG	0.582000														117			12		0	0	1	0	0
SHROOM2	357	broad.mit.edu	37	X	9905433	9905433	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:9905433C>T	uc004csu.1	+	6	3937	c.3847C>T	c.(3847-3849)Ccc>Tcc	p.P1283S	SHROOM2_uc004csv.2_Missense_Mutation_p.P118S|SHROOM2_uc011mic.1_Missense_Mutation_p.P118S|SHROOM2_uc004csw.1_Missense_Mutation_p.P118S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1283					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGCCCCAGCCCCTGGGCAC	0.642000														57			19		0	0	1	0	0
VEPH1	79674	broad.mit.edu	37	3	157188105	157188105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157188105G>A	uc003fbj.2	-	2	771	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	VEPH1_uc003fbk.2_Nonsense_Mutation_p.Q118*|VEPH1_uc010hvu.2_Nonsense_Mutation_p.Q118*|VEPH1_uc021xgk.1_Nonsense_Mutation_p.Q118*|VEPH1_uc003fbn.3_Nonsense_Mutation_p.Q118*|VEPH1_uc003fbm.3_Nonsense_Mutation_p.Q118*	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	118						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGACATACCTGTAAAATGCAA	0.458000														69			11		0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65918300	65918300	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65918300C>A	uc010ujf.2	+	1	2169	c.1882C>A	c.(1882-1884)Ctc>Atc	p.L628I	SLC24A1_uc010ujd.1_Missense_Mutation_p.L628I|SLC24A1_uc010uje.1_Missense_Mutation_p.L628I|SLC24A1_uc010ujg.2_Missense_Mutation_p.L628I|SLC24A1_uc010ujh.2_Missense_Mutation_p.L628I	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	628					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CTTAGAAGACCTCAGCAAGGT	0.522000														125			26		1.2476e-16	1.49007e-16	1	1	0
MRTO4	51154	broad.mit.edu	37	1	19584466	19584466	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19584466G>A	uc001bbs.3	+	5	736	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	161					ribosome biogenesis	nuclear membrane|nucleolus		p.A161T(2)		breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGCCCACCGCCCTCAAGAG	0.597000														119			29		0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52540865	52540865	+	Splice_Site	SNP	C	T	T	rs150932374	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52540865C>T	uc003dej.3	+	18	2063	c.1989_splice	c.e18+1	p.A663_splice	STAB1_uc003dei.1_Splice_Site_p.A663_splice	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	663					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAGATTGTGGCGGTGAGCCTC	0.647000														118			40		0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44747498	44747498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44747498C>T	uc003tln.3	+	22	3131	c.2972C>T	c.(2971-2973)gCg>gTg	p.A991V	OGDH_uc011kbx.2_Missense_Mutation_p.A987V|OGDH_uc011kby.2_Missense_Mutation_p.A841V|OGDH_uc003tlp.3_Missense_Mutation_p.A1002V|OGDH_uc011kbz.2_Missense_Mutation_p.A786V	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	991					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CGGGACCCAGCGGCTGCTCCA	0.652000														151			25		0	0	1	0	0
CHST6	4166	broad.mit.edu	37	16	75512732	75512732	+	Missense_Mutation	SNP	G	T	T	rs144301922		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75512732G>T	uc021tlj.1	-	0	995	c.995C>A	c.(994-996)gCc>gAc	p.A332D	CHST6_uc002fef.3_Missense_Mutation_p.A332D|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.A332D	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	332					N-acetylglucosamine metabolic process|keratan sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ATGGCGCCAGGCCTGGGAGAC	0.642000														277			12		2.27111e-07	2.44751e-07	1	1	0
HNF4G	3174	broad.mit.edu	37	8	76465367	76465367	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:76465367C>A	uc003yaq.3	+	5	709	c.439C>A	c.(439-441)Ctc>Atc	p.L147I	HNF4G_uc003yar.3_Missense_Mutation_p.L184I	NM_004133	NP_004124	Q14541	HNF4G_HUMAN	Homo sapiens hepatocyte nuclear factor 4, gamma (HNF4G), mRNA.	147					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GAAACAGCAGCTCTTAGTCTT	0.358000														73			22		7.41877e-09	8.17068e-09	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173996999	173996999	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996999A>G	uc021xhm.1	+	5	1648	c.1328A>G	c.(1327-1329)gAt>gGt	p.D443G	NLGN1_uc003fio.1_Missense_Mutation_p.D403G|NLGN1_uc010hww.1_Missense_Mutation_p.D443G|NLGN1_uc003fip.1_Missense_Mutation_p.D403G	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	420					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTAGATAGCGATGATGGTATA	0.333000														117			25		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10446206	10446206	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10446206T>G	uc010coi.3	-	9	1018	c.890A>C	c.(889-891)aAa>aCa	p.K297T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.K297T|MYH2_uc010coj.3_Missense_Mutation_p.K297T	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	297	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AAGTTCTGGTTTCTTATTCGA	0.343000														25			5		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34935091	34935091	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34935091C>T	uc003ojx.4	+	1	415	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	91						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTTTGAATGGCCATAAGTAAG	0.463000														135			22		0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20890164	20890164	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:20890164T>C	uc010sii.2	+	11	1861	c.1506T>C	c.(1504-1506)tgT>tgC	p.C502C	SLCO1C1_uc010sij.2_Silent_p.C453C|SLCO1C1_uc009zip.3_Silent_p.C336C|SLCO1C1_uc001rei.3_Silent_p.C502C|SLCO1C1_uc010sik.2_Silent_p.C384C	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	502	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)					TATCAGCTTGTCTTGCTGGTT	0.388000														70			15		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358303	28358303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358303G>A	uc001zbj.3	-	91	14252	c.14146C>T	c.(14146-14148)Cgc>Tgc	p.R4716C	HERC2_uc001zbi.3_Missense_Mutation_p.R405C	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4716	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAAAGAGAGCGCTCTGTGTTG	0.607000														122			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8997154	8997154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8997154C>T	uc002mkp.3	-	59	41246	c.41042G>A	c.(41041-41043)gGc>gAc	p.G13681D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G498D|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13683	SEA 11.			Missing (in Ref. 3; AAK74120).	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						GTACAGAGGGCCAACACTGGT	0.562000														113			26		0	0	1	0	0
HOXB1	3211	broad.mit.edu	37	17	46607804	46607804	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46607804C>T	uc002ink.1	-	0	469	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	HOXB1_uc021tzf.1_Missense_Mutation_p.A155T	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	155						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAGCATAGGCCGGTGCAAAG	0.607000														101			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140719530	140719530	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140719530C>T	uc003ljk.2	+	0	1177	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.A331V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A331V(2)		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)			CTAACCAGAGCGAAGGTTATC	0.433000														297			14		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	86896	86896	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86896T>G	uc003fzv.1	+	5	1604	c.1448T>G	c.(1447-1449)aTt>aGt	p.I483S	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Missense_Mutation_p.I269S|ZNF718_uc011but.1_Missense_Mutation_p.I269S	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CATAAGAATATTCATACTGGA	0.373000														75			15		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835752	50835752	+	Silent	SNP	C	T	T	rs145203976	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50835752C>T	uc001jhz.2	+	6	1185	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	CHAT_uc001jhv.1_Silent_p.D226D|CHAT_uc001jhx.1_Silent_p.D226D|CHAT_uc001jhy.1_Silent_p.D226D|CHAT_uc001jia.2_Silent_p.D262D|CHAT_uc010qgs.1_Silent_p.D226D	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	344					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CCAACGAGGACGAGCGTTTGC	0.552000														195			44		0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183700361	183700361	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183700361C>T	uc003fmg.3	-	6	1042	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.V293I	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	293	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			AGGCTGCCAACGGCTGCTGCC	0.488000														105			25		0	0	1	0	0
CRLF1	9244	broad.mit.edu	37	19	18710420	18710420	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18710420C>T	uc010ebt.2	-	1	546	c.352G>A	c.(352-354)Gcc>Acc	p.A118T		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	118	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCGTCACGGGCGTGGCACACG	0.657000														95			24		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43922354	43922354	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43922354A>G	uc010yny.2	+	5	576	c.493A>G	c.(493-495)Aaa>Gaa	p.K165E	PLEKHH2_uc002rte.3_Missense_Mutation_p.K165E|PLEKHH2_uc002rtf.3_Missense_Mutation_p.K165E	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	165						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATGCAGTCAAAACTACAAGG	0.308000														18			5		0	0	1	0	0
TGFBR2	7048	broad.mit.edu	37	3	30729950	30729950	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:30729950G>A	uc003ceo.3	+	5	1853	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	TGFBR2_uc003cen.3_Missense_Mutation_p.V516M	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	491	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.N490S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GAAGGACAACGTGTTGAGAGA	0.488000														112			30		0	0	1	0	0
CARTPT	9607	broad.mit.edu	37	5	71015722	71015722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71015722G>A	uc003kbv.2	+	1	306	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	59					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	AGCGCTGCAAGAAGTCTTGAA	0.537000														154			30		0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13059253	13059253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13059253C>T	uc010xac.2	+	20	4510	c.4430C>T	c.(4429-4431)gCa>gTa	p.A1477V	CEP192_uc010dlf.1_Non-coding_Transcript|CEP192_uc010xad.2_Missense_Mutation_p.A1002V|CEP192_uc002kru.3_Non-coding_Transcript|CEP192_uc002krv.3_5'UTR|CEP192_uc002krs.1_Missense_Mutation_p.A1218V	NM_032142	NP_115518	B7ZMF0	B7ZMF0_HUMAN	Homo sapiens centrosomal protein 192kDa (CEP192), mRNA.	1072										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATCGTACAGGCAGAAGCTTTG	0.453000														167			38		0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46733150	46733150	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46733150C>A	uc001cpl.2	+	8	1622	c.911C>A	c.(910-912)tCt>tAt	p.S304Y	RAD54L_uc009vye.2_Missense_Mutation_p.S304Y	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	304	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTCAAGAACTCTGAGAATCAG	0.502000								Direct reversal of damage;Homologous recombination						114			31		2.85442e-18	3.44571e-18	1	1	0
TMEM132E	124842	broad.mit.edu	37	17	32956037	32956037	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32956037C>T	uc002hif.3	+	4	1210	c.882C>T	c.(880-882)ggC>ggT	p.G294G		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	294						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCAGGGAGGGCCAGGGCCCCT	0.612000														278			15		0	0	1	0	0
ENTPD8	377841	broad.mit.edu	37	9	140329483	140329483	+	Silent	SNP	C	T	T	rs140934866		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140329483C>T	uc004cmw.3	-	9	1555	c.1371G>A	c.(1369-1371)ccG>ccA	p.P457P	ENTPD8_uc004cmx.3_Silent_p.P420P	NM_001033113	NP_001028285	Q5MY95	ENTP8_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 8 (ENTPD8), transcript variant 1, mRNA.	457						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GCCACTGAGCCGGCGCATCGG	0.677000														57			17		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18387407	18387407	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18387407C>T	uc002zng.4	-	2	816	c.463G>A	c.(463-465)Gac>Aac	p.D155N	MICAL3_uc011agl.2_Missense_Mutation_p.D155N|MICAL3_uc002znh.2_Missense_Mutation_p.D155N|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.D155N|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.D155N|MICAL3_uc011agm.1_Missense_Mutation_p.D155N	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	155						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGATATGGTCGATGGCTCCA	0.478000														201			39		0	0	1	0	0
PDE8B	8622	broad.mit.edu	37	5	76700561	76700561	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:76700561A>C	uc003kfa.3	+	11	1272	c.1227A>C	c.(1225-1227)agA>agC	p.R409S	PDE8B_uc003kfd.3_Missense_Mutation_p.R362S|PDE8B_uc003kfe.3_Missense_Mutation_p.R312S|PDE8B_uc003kfb.3_Missense_Mutation_p.R389S|PDE8B_uc003kfc.3_Missense_Mutation_p.R409S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	409					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTCATTCAGATATAAGAACA	0.358000														47			9		0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119535612	119535612	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119535612G>A	uc001pwv.3	-	5	1571	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	467					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGAAGTAGGGCCGCTTGGCG	0.662000														86			7		0	0	1	0	0
RPA3	6119	broad.mit.edu	37	7	7679979	7679979	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:7679979G>A	uc003sri.3	-	4	1243	c.71C>T	c.(70-72)cCt>cTt	p.P24L	LOC729852_uc011jxf.2_5'Flank	NM_002947	NP_002938	P35244	RFA3_HUMAN	Homo sapiens replication protein A3, 14kDa (RPA3), mRNA.	24					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|cytoplasm|nucleoplasm	protein binding|single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		GAAGCAGACAGGCTTGTCGAT	0.597000								Direct reversal of damage;Nucleotide excision repair (NER)						196			43		0	0	1	0	0
RGMB	285704	broad.mit.edu	37	5	98129023	98129023	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:98129023C>T	uc003knc.3	+	4	1405	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	294					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCTTGCCATCCGTATGCCTGA	0.612000														51			20		0	0	1	0	0
PSMA1	5682	broad.mit.edu	37	11	14535242	14535242	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14535242T>C	uc001mll.3	-	7	781	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	PSMA1_uc010rcp.1_Non-coding_Transcript|PSMA1_uc001mlk.3_Missense_Mutation_p.M140V	NM_148976	NP_683877	P25786	PSA1_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 1 (PSMA1), transcript variant 1, mRNA.	140					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	RNA binding|protein binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						TGAGGGCCCATATCCTACAAA	0.328000														77			26		0	0	1	0	0
GJA3	2700	broad.mit.edu	37	13	20716897	20716897	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20716897C>T	uc001umx.1	-	1	703	c.531G>A	c.(529-531)ccG>ccA	p.P177P	GJA3_uc021rgz.1_Silent_p.P177P	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	177					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		AGCGGTAGAGCGGCTTCAGCT	0.597000														137			34		0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79356886	79356886	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79356886A>G	uc001diq.4	-	14	2182	c.2026T>C	c.(2026-2028)Tac>Cac	p.Y676H		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	676					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AACAATCTGTAATATTCTTCT	0.264000														38			6		0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151259046	151259046	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151259046G>T	uc001exq.3	+	1	377	c.279G>T	c.(277-279)gaG>gaT	p.E93D	ZNF687_uc001exp.1_Missense_Mutation_p.E102D|ZNF687_uc009wmo.3_Missense_Mutation_p.E93D|ZNF687_uc009wmp.3_Missense_Mutation_p.E93D	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGTGTCCCGAGCAGTCTGAGG	0.602000														176			34		3.03874e-20	3.70712e-20	1	1	0
IFIT1	3434	broad.mit.edu	37	10	91162883	91162883	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91162883C>T	uc001kgi.3	+	1	999	c.851C>T	c.(850-852)tCt>tTt	p.S284F	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Missense_Mutation_p.S284F|IFIT1_uc001kgj.3_Missense_Mutation_p.S253F	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	284					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ACACCCACTTCTGTCTTACTG	0.443000														120			28		0	0	1	0	0
R3HDM4	91300	broad.mit.edu	37	19	901987	901987	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:901987C>T	uc002lqg.2	-	1	283	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_138774	NP_620129	Q96D70	CS022_HUMAN	Homo sapiens R3H domain containing 4 (R3HDM4), mRNA.	72						nucleus	nucleic acid binding										GTTCTCCAGGCGCTGGAGGCT	0.602000														294			56		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127461256	127461256	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127461256C>T	uc001liu.3	-	2	761	c.761G>A	c.(760-762)cGc>cAc	p.R254H		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	254					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTCACCTAGGCGCCAGGCGTG	0.637000														123			26		0	0	1	0	0
POMGNT1	55624	broad.mit.edu	37	1	46657980	46657980	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46657980C>A	uc001cpg.3	-	16	2064	c.1413_splice	c.e16+1	p.K471_splice	POMGNT1_uc010olx.2_Splice_Site_p.K449_splice|POMGNT1_uc010oly.2_Splice_Site|POMGNT1_uc010olz.2_Splice_Site_p.K328_splice|POMGNT1_uc001cpe.3_Splice_Site_p.K471_splice|POMGNT1_uc001cpf.3_Splice_Site_p.K138_splice|POMGNT1_uc001cph.1_Splice_Site_p.K49_splice|POMGNT1_uc001cpi.1_Splice_Site_p.K138_splice	NM_001243766	NP_001230695	Q8WZA1	PMGT1_HUMAN	Homo sapiens protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase (POMGNT1), transcript variant 2, mRNA.	471					protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					TGACAGTTACCTTTTCCGGTG	0.572000														132			20		3.51602e-12	4.04451e-12	1	1	0
PGBD4	161779	broad.mit.edu	37	15	34395759	34395759	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34395759T>C	uc001zho.3	+	0	1486	c.1027T>C	c.(1027-1029)Tta>Cta	p.L343L	C15orf24_uc001zhm.3_5'Flank	NM_152595	NP_689808	Q96DM1	PGBD4_HUMAN	Homo sapiens piggyBac transposable element derived 4 (PGBD4), mRNA.	343										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		TTTCAGAGAATTACATCAAAA	0.403000														113			27		0	0	1	0	0
PRPF4B	8899	broad.mit.edu	37	6	4060752	4060752	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4060752C>T	uc003mvv.3	+	14	3017	c.2926C>T	c.(2926-2928)Cta>Tta	p.L976L	PRPF4B_uc003mvw.3_Non-coding_Transcript|FAM217A_uc010jnq.1_Intron|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	976	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				AGTACACCAGCTAAAGGACTT	0.448000														59			5		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107828	55107828	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55107828G>A	uc003dhf.3	+	36	3173	c.3125G>A	c.(3124-3126)cGt>cAt	p.R1042H		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1042						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		AAGTGTGAACGTCTAAAGGCC	0.423000														25			14		0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71396761	71396761	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71396761A>C	uc003hfk.1	+	7	452	c.363A>C	c.(361-363)caA>caC	p.Q121H	AMTN_uc010ihy.1_Missense_Mutation_p.Q120H	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Homo sapiens amelotin (AMTN), mRNA.	121					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TCCAGCCACAAATCTTCACGA	0.478000														64			21		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	372257	372257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:372257C>T	uc003zgf.2	+	17	2192	c.2080C>T	c.(2080-2082)Cca>Tca	p.P694S	DOCK8_uc022bcu.1_Missense_Mutation_p.P626S|DOCK8_uc010mgv.3_Missense_Mutation_p.P626S|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgw.2_5'UTR|DOCK8_uc003zgk.2_Missense_Mutation_p.P152S|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	694					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGAAAAATTGCCACCCAACTA	0.448000														111			19		0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35275070	35275070	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35275070T>G	uc001ziw.3	-	2	920	c.566A>C	c.(565-567)aAa>aCa	p.K189T	ZNF770_uc021siy.1_Missense_Mutation_p.K189T	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CAAGACACATTTAAAAGGCCT	0.348000														51			12		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88924572	88924572	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88924572G>T	uc001pcs.3	+	1	1104	c.1022G>T	c.(1021-1023)aGa>aTa	p.R341I		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	341					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TTCAGCTTTAGAAATACACTG	0.368000														176			44		9.84934e-19	1.19234e-18	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29935582	29935582	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:29935582T>C	uc004dby.2	+	7	1287	c.779_splice	c.e7-1	p.G260_splice		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	260	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TCTCTGCAGGTGACTCTGCTA	0.358000														30			13		0	0	1	0	0
PAK6	56924	broad.mit.edu	37	15	40564567	40564567	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40564567G>A	uc010bbl.3	+	5	1441	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	PAK6_uc010bbm.3_Missense_Mutation_p.R334H|PAK6_uc001zky.4_Missense_Mutation_p.R334H|PAK6_uc010bbn.3_Missense_Mutation_p.R334H|PAK6_uc001zlb.3_Missense_Mutation_p.R334H	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	334	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AAGTCCCTCCGCACAGCCCCG	0.692000														254			16		0	0	1	0	0
OR10P1	121130	broad.mit.edu	37	12	56031342	56031342	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56031342C>A	uc010spq.2	+	0	667	c.667C>A	c.(667-669)Ctg>Atg	p.L223M		NM_206899	NP_996782	Q8NGE3	O10P1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily P, member 1 (OR10P1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26						CATCCGCATCCTGGGTGCCAT	0.552000														230			57		4.33383e-22	5.33557e-22	1	1	0
FBXO44	93611	broad.mit.edu	37	1	11718605	11718605	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11718605C>A	uc010oar.2	+	3	505	c.379C>A	c.(379-381)Cca>Aca	p.P127T	FBXO44_uc001ask.3_Intron|FBXO44_uc010oaq.1_3'UTR|FBXO44_uc010oas.2_Intron|FBXO44_uc001asm.3_Silent_p.S136S|FBXO44_uc001asl.3_Silent_p.S136S|FBXO44_uc001asn.3_Intron	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCAAGTCCCAGGTGGTGG	0.662000														77			19		1.67942e-08	1.84125e-08	1	1	0
CDHR2	54825	broad.mit.edu	37	5	176004439	176004439	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004439G>A	uc021yie.1	+	12	1508	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CDHR2_uc003mem.2_Missense_Mutation_p.D412N|CDHR2_uc003men.1_Missense_Mutation_p.D412N	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	412	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGGGGGCCCCGATGCAGAAGC	0.647000														45			5		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496245	113496245	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496245G>A	uc001tuk.1	+	0	584	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	83	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCAGTTTCGCCAGGACACA	0.612000														223			58		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179458929	179458929	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179458929C>T	uc021vsy.1	-	245	50712	c.50487G>A	c.(50485-50487)acG>acA	p.T16829T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T10524T|TTN_uc021vta.1_Silent_p.T10457T|TTN_uc021vtb.1_Silent_p.T10332T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17756	Ig-like 101.						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)			CAACTCGAATCGTGAGCTTAT	0.418000														89			17		0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176802174	176802174	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176802174G>T	uc010fqw.1	-	11	1150	c.1150C>A	c.(1150-1152)Cct>Act	p.P384T	KIAA1715_uc010zes.1_Missense_Mutation_p.P320T|KIAA1715_uc002ukd.1_Missense_Mutation_p.P195T|KIAA1715_uc002ukc.1_Missense_Mutation_p.P318T|KIAA1715_uc010zer.1_Missense_Mutation_p.P349T|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	318						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			CTAAACTCAGGAAGTCTTGGA	0.423000														85			16		4.75885e-15	5.61893e-15	1	1	0
TMEM39B	55116	broad.mit.edu	37	1	32568053	32568053	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32568053C>T	uc010ogv.2	+	8	1404	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	TMEM39B_uc001buf.4_Missense_Mutation_p.R221W|TMEM39B_uc010ogw.2_Missense_Mutation_p.R221W	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	420						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CAAACCCCTGCGGATCCTCAA	0.567000														137			26		0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802529	233802529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233802529G>A	uc010pxo.1	+	1	712	c.544G>A	c.(544-546)Gtc>Atc	p.V182I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	182						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GGTGGCCATCGTCCATGCCGT	0.607000														141			51		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165504015	165504015	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165504015C>T	uc003fem.4	-	2	1762	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	534					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TTCTTGTTGACTCTGTATTCA	0.358000														59			15		0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12854865	12854865	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12854865G>T	uc003bxk.2	+	6	1033	c.984G>T	c.(982-984)gaG>gaT	p.E328D	CAND2_uc003bxj.2_Missense_Mutation_p.E235D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	328					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGACAGAGGATAGTGAAT	0.537000														57			12		3.27435e-08	3.57295e-08	1	1	0
ARRDC1	92714	broad.mit.edu	37	9	140508784	140508784	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140508784G>A	uc004cnp.2	+	5	726	c.652G>A	c.(652-654)Gac>Aac	p.D218N	ARRDC1_uc004cns.3_Missense_Mutation_p.D218N|ARRDC1_uc004cnx.2_Missense_Mutation_p.D93N			Q8N5I2	ARRD1_HUMAN	Homo sapiens arrestin domain containing 1 (ARRDC1), mRNA.	218								p.D218D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		CTGGATCCACGACGTACGGAC	0.682000														288			74		0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783502	6783502	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6783502G>T	uc003wqt.3	-	0	97	c.56C>A	c.(55-57)gCt>gAt	p.A19D		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	19					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAGTGGCTCAGCCTTGGCCTG	0.597000														31			8		0.000442599	0.000455268	1	1	0
DHPS	1725	broad.mit.edu	37	19	12790297	12790297	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12790297C>A	uc002muh.2	-	4	773	c.652G>T	c.(652-654)Gag>Tag	p.E218*	DHPS_uc002mug.2_Nonsense_Mutation_p.E176*|DHPS_uc002mui.2_Nonsense_Mutation_p.E218*|DHPS_uc002muk.2_Non-coding_Transcript|DHPS_uc010xmn.2_Non-coding_Transcript	NM_001930	NP_001921	P49366	DHYS_HUMAN	Homo sapiens deoxyhypusine synthase (DHPS), transcript variant 1, mRNA.	218					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	TACACGGACTCTGGGTTGTTG	0.537000														364			80		4.18771e-30	5.27058e-30	1	1	0
CCDC144C	348254	broad.mit.edu	37	17	20266290	20266290	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20266290G>T	uc010cqy.1	+	10		c.2492G>T								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						CAGGATGCCAGAATATTACAA	0.378000														56			12		6.40141e-05	6.6609e-05	1	1	0
NCK2	8440	broad.mit.edu	37	2	106471526	106471526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106471526G>A	uc002tdg.3	+	2	283	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	NCK2_uc002tdh.3_Missense_Mutation_p.E3K|NCK2_uc002tdi.3_Missense_Mutation_p.E3K	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	3	SH3 1.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						AAAGATGACAGAAGAAGTTAT	0.483000														87			17		0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51743024	51743024	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51743024G>A	uc010hlv.3	+	1	264	c.25G>A	c.(25-27)Gca>Aca	p.A9T	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	9					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCGCTCCTGGCACTGCTGCT	0.632000														67			18		0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153250829	153250829	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153250829C>T	uc003ims.3	-	7	1393	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	FBXW7_uc011cii.2_Missense_Mutation_p.G411S|FBXW7_uc003imt.3_Missense_Mutation_p.G411S|FBXW7_uc011cih.2_Missense_Mutation_p.G235S|FBXW7_uc003imq.3_Missense_Mutation_p.G331S|FBXW7_uc003imr.3_Missense_Mutation_p.G293S	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	411					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.T410I(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTTACTTTGCCTGTGACTGCT	0.343000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""									80			7		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4877048	4877048	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4877048G>T	uc010cku.2	-	12	2514	c.2102C>A	c.(2101-2103)cCt>cAt	p.P701H	CAMTA2_uc002gag.2_Missense_Mutation_p.P677H|CAMTA2_uc002gah.2_Missense_Mutation_p.P678H|CAMTA2_uc002gai.2_Missense_Mutation_p.P680H|CAMTA2_uc010ckv.1_Missense_Mutation_p.P325H	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	678					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTCGAACCCAGGCCCCTGGCC	0.597000														76			24		7.4402e-23	9.18701e-23	1	1	0
PRRT3	285368	broad.mit.edu	37	3	9991052	9991052	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9991052G>A	uc003bul.2	-	1	878	c.748C>T	c.(748-750)Cct>Tct	p.P250S	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.P250S	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	250	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CCAACATCAGGGGCTGCTGGA	0.597000														147			32		0	0	1	0	0
C12orf49	79794	broad.mit.edu	37	12	117155658	117155658	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117155658T>G	uc001tvz.1	-	4	713	c.575A>C	c.(574-576)aAg>aCg	p.K192T	C12orf49_uc009zwm.1_Missense_Mutation_p.K162T	NM_024738	NP_079014	Q9H741	CL049_HUMAN	Homo sapiens chromosome 12 open reading frame 49 (C12orf49), mRNA.	192						extracellular region				endometrium(1)|lung(1)|ovary(1)|skin(1)	4	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0281)		ATAGCAATACTTTGCTATGGG	0.587000														20			4		0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35782423	35782423	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35782423C>T	uc003olg.1	+	1	890	c.513C>T	c.(511-513)ggC>ggT	p.G171G		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 5 (LHFPL5), mRNA.	171						integral to membrane				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						ACACGCTGGGCCACTGCACCA	0.622000														165			31		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108168620	108168620	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108168620G>T	uc003kop.1	+	3	741	c.357G>T	c.(355-357)caG>caT	p.Q119H	FER_uc011cve.1_Missense_Mutation_p.Q59H|FER_uc011cvf.1_Non-coding_Transcript|FER_uc003koq.2_Missense_Mutation_p.Q119H|FER_uc011cvg.1_Intron	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	119	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTGTTCATCAGCAGATAGAGG	0.383000														114			22		6.21321e-17	7.43302e-17	1	1	0
CREBRF	153222	broad.mit.edu	37	5	172539317	172539317	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:172539317G>A	uc003mch.3	+	6	1935	c.1616G>A	c.(1615-1617)cGg>cAg	p.R539Q	CREBRF_uc011dfd.1_Missense_Mutation_p.R539Q	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA.	539							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AGAGCTTGTCGGTTAAAGAAG	0.353000														89			24		0	0	1	0	0
MYLK4	340156	broad.mit.edu	37	6	2685594	2685594	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:2685594C>T	uc003mty.4	-	5	778	c.481G>A	c.(481-483)Gcg>Acg	p.A161T		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	161	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.H160H(1)|p.A161A(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				ATGAGGTTCGCGTGGTCCAGC	0.572000														290			59		0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45431649	45431649	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45431649C>A	uc001wvw.3	+	0	234	c.25C>A	c.(25-27)Ctt>Att	p.L9I	FAM179B_uc001wvv.3_Missense_Mutation_p.L9I|FAM179B_uc010anc.3_Non-coding_Transcript|KLHL28_uc001wvq.3_5'Flank|KLHL28_uc001wvr.3_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.L9I|FAM179B_uc001wvu.3_Missense_Mutation_p.L9I	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	Homo sapiens family with sequence similarity 179, member B (FAM179B), mRNA.	9							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CTCCGCGCTGCTTCTGCTGCC	0.612000														97			17		3.41278e-10	3.83229e-10	1	1	0
TNXB	7148	broad.mit.edu	37	6	32064837	32064837	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32064837C>T	uc003nzl.2	-	2	995	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	265	EGF-like 4.				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						GGGTCACACACGCAGCGCCCA	0.667000														81			15		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73462397	73462397	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73462397G>A	uc001jrx.4	+	22	3063	c.2673G>A	c.(2671-2673)ctG>ctA	p.L891L	CDH23_uc001jry.3_Silent_p.L891L|CDH23_uc001jrz.3_Silent_p.L891L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	893	Cadherin 9.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCAGAACCTGCCTTTTGTGG	0.562000														223			56		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53108559	53108559	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53108559C>T	uc001cuf.3	+	1	307	c.207C>T	c.(205-207)tcC>tcT	p.S69S	FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	69						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TAGGCCTGTCCGTAGCAGCAG	0.522000														358			72		0	0	1	0	0
CP	1356	broad.mit.edu	37	3	148895751	148895751	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:148895751A>G	uc003ewy.4	-	16	3147	c.2894T>C	c.(2893-2895)aTg>aCg	p.M965T	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.M117T|CP_uc003ewx.4_Missense_Mutation_p.M746T|CP_uc003ewz.3_Missense_Mutation_p.M965T	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	965	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTTTCCAAACATTCTTCCATT	0.343000														110			21		0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28358723	28358723	+	Missense_Mutation	SNP	G	A	A	rs144912188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28358723G>A	uc001zbj.3	-	90	14121	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M	HERC2_uc001zbi.3_Missense_Mutation_p.T361M	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4672	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCATACCATCGTCTCCAGTTC	0.582000														91			14		0	0	1	0	0
BC024248	0	broad.mit.edu	37	2	78639940	78639940	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:78639940C>T	uc002snv.4	-	2		c.912G>A								Homo sapiens cytochrome c, somatic pseudogene 6, mRNA (cDNA clone IMAGE:4815768).																		TTGAGATAAGCTATCAAGTCT	0.373000														29			6		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965545	48965545	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48965545T>G	uc010kyv.1	+	0	1389	c.1277T>G	c.(1276-1278)tTt>tGt	p.F426C						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		GTGCTGACCTTTACACTGTGT	0.443000														19			3		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179465822	179465822	+	Silent	SNP	C	T	T	rs35647804		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179465822C>T	uc021vsy.1	-	236	48330	c.48105G>A	c.(48103-48105)ccG>ccA	p.P16035P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P9730P|TTN_uc021vta.1_Silent_p.P9663P|TTN_uc021vtb.1_Silent_p.P9538P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16962	Ig-like 99.						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)			CATCATTCTTCGGGGGTTTCC	0.458000														126			29		0	0	1	0	0
IL28A	282616	broad.mit.edu	37	19	39759474	39759474	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39759474C>A	uc002oku.1	+	1	220	c.168C>A	c.(166-168)gcC>gcA	p.A56A		NM_172138	NP_742150	Q8IZJ0	IL28A_HUMAN	Homo sapiens interleukin 28A (interferon, lambda 2) (IL28A), mRNA.	56					response to virus	extracellular space	cytokine activity			cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;5.39e-26)|all cancers(26;4.1e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			AGCTGCAGGCCTTTAAGAGGG	0.622000														73			27		5.90632e-09	6.51854e-09	1	1	0
PRX	57716	broad.mit.edu	37	19	40902860	40902860	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40902860C>A	uc002onr.3	-	6	1668	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	PRX_uc002onq.3_Nonsense_Mutation_p.E328*|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	467	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTCCACCTCTGGGAGTCGA	0.597000														362			81		8.87156e-34	1.12136e-33	1	1	0
MPP7	143098	broad.mit.edu	37	10	28345483	28345483	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:28345483G>A	uc001iua.1	-	17	1881	c.1477C>T	c.(1477-1479)Cgt>Tgt	p.R493C	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R493C|MPP7_uc009xla.2_Missense_Mutation_p.R493C|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	493	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTCTCAAACGCTCTATTGAT	0.373000														178			18		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36742762	36742762	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36742762G>T	uc003omr.1	-	9	780	c.713C>A	c.(712-714)gCc>gAc	p.A238D	CPNE5_uc003oms.1_Missense_Mutation_p.A217D	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	238	C2 2.							p.R237I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GTTGCAGAGGGCTCTCACGGG	0.522000														57			19		8.34094e-07	8.90579e-07	1	1	0
NALCN	259232	broad.mit.edu	37	13	101710303	101710303	+	Missense_Mutation	SNP	G	A	A	rs143587652		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101710303G>A	uc001vox.1	-	42	5200	c.5011C>T	c.(5011-5013)Cgt>Tgt	p.R1671C		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1671						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGGGCAGACGCCACTGCCCA	0.542000														163			24		0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236389686	236389686	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236389686C>T	uc001hxt.3	-	11	1191	c.935G>A	c.(934-936)cGa>cAa	p.R312Q		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	312					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGACAAAGCTCGAAGCTCAAT	0.393000														64			42		0	0	1	0	0
PADI2	11240	broad.mit.edu	37	1	17410236	17410236	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17410236G>A	uc001baf.3	-	8	1117	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	PADI2_uc010ocm.2_Silent_p.G229G|PADI2_uc001bag.1_Silent_p.G345G	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	345					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	TCCAGCGATCGCCTCGGTTTA	0.532000														118			18		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402986	133402986	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402986G>A	uc002ttl.3	+	1	1638	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	390			R -> C (in dbSNP:rs16838944).			integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTGTGCAGCGCCCGTTGCTC	0.627000														197			20		0	0	1	0	0
CHRNA1	1134	broad.mit.edu	37	2	175624353	175624353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:175624353C>T	uc002ujd.2	-	1	130	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V18I|CHRNA1_uc002ujf.4_Missense_Mutation_p.V18I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	18					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V18F(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGCCCAGGACGAGGCCAGCT	0.557000														193			40		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22746295	22746295	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22746295T>G	uc002yld.2	+	8	1406	c.1157T>G	c.(1156-1158)aTt>aGt	p.I386S	NCAM2_uc011acb.2_Missense_Mutation_p.I244S|NCAM2_uc011acc.2_Missense_Mutation_p.I411S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	386	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCAAGCAGAATTGGAGGGCAT	0.368000														117			19		0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574502	41574502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41574502C>T	uc003azl.4	+	30	7182	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	2263					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTATCAGCAGCGACTCCTTCA	0.577000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome					173			12		0	0	1	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29511465	29511465	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29511465T>G	uc002kxc.4	-	1	543	c.179A>C	c.(178-180)aAt>aCt	p.N60T	TRAPPC8_uc002kxb.4_Missense_Mutation_p.N6T|TRAPPC8_uc002kxd.4_Non-coding_Transcript|TRAPPC8_uc021uio.1_Missense_Mutation_p.N60T|TRAPPC8_uc002kxe.2_Missense_Mutation_p.N60T	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	Homo sapiens trafficking protein particle complex 8 (TRAPPC8), mRNA.	60					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGAAGTTGATTATTAGGATC	0.343000														141			37		0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602323	5602323	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602323G>A	uc010qzi.2	+	0	217	c.217G>A	c.(217-219)Gca>Aca	p.A73T	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTCTCCCAGGCAATCCTGCA	0.507000														162			40		0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121738597	121738597	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121738597C>A	uc003vka.3	-	13	1658	c.1562G>T	c.(1561-1563)gGc>gTc	p.G521V	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.G521V|AASS_uc011knw.2_Missense_Mutation_p.G9V	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	521	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATATTTCTTGCCTAACTGTTC	0.323000														27			11		0.00829132	0.00840732	1	1	0
MUC16	94025	broad.mit.edu	37	19	9084855	9084855	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9084855G>T	uc002mkp.3	-	0	7164	c.6960C>A	c.(6958-6960)acC>acA	p.T2320T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2320	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCAGCAGAGGTGATTGTCC	0.478000														46			11		1.58986e-06	1.69271e-06	1	1	0
SFMBT2	57713	broad.mit.edu	37	10	7230594	7230594	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7230594C>T	uc009xio.2	-	15	1891	c.1800G>A	c.(1798-1800)ctG>ctA	p.L600L	SFMBT2_uc001ijn.2_Silent_p.L600L|SFMBT2_uc010qay.2_Silent_p.L435L	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	600					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTGGCCTTCAGCGTCTCTT	0.443000														90			17		0	0	1	0	0
RNLS	55328	broad.mit.edu	37	10	90122337	90122337	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90122337G>T	uc001kfe.3	-	4	807	c.672C>A	c.(670-672)gtC>gtA	p.V224V	RNLS_uc010qms.1_Silent_p.V141V|RNLS_uc001kfd.2_Silent_p.V224V|RNLS_uc009xtj.3_Silent_p.V56V	NM_001031709	NP_001026879	Q5VYX0	RNLS_HUMAN	Homo sapiens renalase, FAD-dependent amine oxidase (RNLS), transcript variant 1, mRNA.	224						extracellular region	oxidoreductase activity			breast(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7						TATCAATGGAGACGAAGCGTA	0.433000														101			17		0.000958276	0.000982219	1	1	0
CDK12	51755	broad.mit.edu	37	17	37627662	37627662	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37627662C>A	uc010cvv.3	+	1	2163	c.1577C>A	c.(1576-1578)cCt>cAt	p.P526H	CDK12_uc010wef.1_Missense_Mutation_p.P525H|CDK12_uc002hrw.4_Missense_Mutation_p.P526H	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	526					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGGAGACCCCTCCACCTCTT	0.498000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				228			62		5.86059e-21	7.17864e-21	1	1	0
DDX60L	91351	broad.mit.edu	37	4	169305771	169305771	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:169305771T>C	uc021xuh.1	-	28	4218	c.4108A>G	c.(4108-4110)Aag>Gag	p.K1370E	DDX60L_uc003irq.4_Missense_Mutation_p.K1370E	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1370							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACCTTTGCCTTGGCATCCTCT	0.537000														40			12		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33123884	33123884	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33123884T>G	uc001muh.3	-	10	830	c.664_splice	c.e10-1	p.E222_splice	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	222					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TGTCTCATATTCCTAGACAAC	0.433000														45			21		0	0	1	0	0
C15orf39	56905	broad.mit.edu	37	15	75499684	75499684	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75499684C>A	uc002azp.4	+	1	1615	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	C15orf39_uc002azq.4_Missense_Mutation_p.P432H|C15orf39_uc021sqm.1_Missense_Mutation_p.P191H|C15orf39_uc002azr.4_5'Flank	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	432										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CCTGTGAGGCCTGCACAGGAA	0.642000														161			31		1.13719e-10	1.28347e-10	1	1	0
ASPRV1	151516	broad.mit.edu	37	2	70188262	70188262	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70188262C>T	uc002sfz.4	-	0	1136	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	187					protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TTGGCAAAGACGATCTCTTTG	0.602000														157			22		0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183532664	183532664	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183532664C>T	uc001gqj.4	-	11	1358	c.1083G>A	c.(1081-1083)acG>acA	p.T361T	NCF2_uc010pod.2_Silent_p.T316T|NCF2_uc010poe.2_Silent_p.T280T|NCF2_uc001gqk.4_Silent_p.T361T	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	361	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCATGACTACCGTGTACTTGT	0.552000														256			51		0	0	1	0	0
CYP20A1	57404	broad.mit.edu	37	2	204131313	204131313	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204131313G>A	uc010zif.2	+	4	1131	c.509G>A	c.(508-510)gGt>gAt	p.G170D	CYP20A1_uc002uzv.4_Missense_Mutation_p.G170D|CYP20A1_uc002uzx.4_Missense_Mutation_p.G68D|CYP20A1_uc002uzy.4_Missense_Mutation_p.G68D|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	170						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						CATATGCTTGGTTTTGCTATG	0.433000														200			64		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153590625	153590625	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153590625C>T	uc004fkk.2	-	17	2890	c.2641G>A	c.(2641-2643)Ggc>Agc	p.G881S	FLNA_uc010nuu.1_Missense_Mutation_p.G881S	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	881					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)					CGACTGAGGCCAGGGCCCTCG	0.662000														174			53		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51224357	51224357	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51224357G>A	uc001wyi.3	-	17	3582	c.3391C>T	c.(3391-3393)Cga>Tga	p.R1131*	NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Nonsense_Mutation_p.R1131*|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Nonsense_Mutation_p.R1131*	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1131					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)					TGCTTCGTTCGGTTTTGCTGT	0.483000			T	PDGFRB	MPD									277			22		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272392	1272392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1272392C>T	uc001lta.3	+	30	14341	c.14282C>T	c.(14281-14283)aCg>aTg	p.T4761M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4761	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T4761M(2)|p.T4716M(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGTGGACCACGTGGACCGTC	0.582000														172			52		0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422137	53422137	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53422137G>A	uc001vhi.3	-	0	639	c.435C>T	c.(433-435)tcC>tcT	p.S145S	PCDH8_uc001vhj.3_Silent_p.S145S	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	145	Cadherin 2.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	p.S145S(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCACCCTCGGACACCTCTA	0.711000														108			25		0	0	1	0	0
GNA15	2769	broad.mit.edu	37	19	3151773	3151773	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3151773G>T	uc002lxf.2	+	3	812	c.554G>T	c.(553-555)aGc>aTc	p.S185I		NM_002068	NP_002059	P30679	GNA15_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 15 (Gq class) (GNA15), mRNA.	185					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		GTGCTCCGCAGCCGCATGCCC	0.642000														259			60		3.74213e-36	4.74466e-36	1	1	0
APBA1	320	broad.mit.edu	37	9	72131056	72131056	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72131056G>A	uc004ahh.2	-	1	1347	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	357					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCACCTCCTCGATGGCCTCCT	0.662000														207			38		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201749585	201749585	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201749585C>T	uc021phi.1	+	3	1610	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	NAV1_uc001gwu.3_Silent_p.S421S|NAV1_uc001gwv.1_5'UTR|NAV1_uc001gww.2_Silent_p.S30S|NAV1_uc001gwx.3_Silent_p.S30S|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	421					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTGGACTCAGCGATGCCTCAG	0.468000														112			22		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78369282	78369282	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369282G>A	uc001ozl.4	-	33	8594	c.8131C>T	c.(8131-8133)Cgg>Tgg	p.R2711W	ODZ4_uc001ozk.4_Missense_Mutation_p.R936W	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2711					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCCCCTTCCCGCAGTCTCTGC	0.667000														161			35		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164529	2164529	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2164529C>T	uc002cos.1	-	10	2704	c.2495G>A	c.(2494-2496)cGc>cAc	p.R832H	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R832H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	832					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGCCGTCGCGGGGGGCAGG	0.692000														58			15		0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225276	10225276	+	Silent	SNP	C	T	T	rs143410132		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225276C>T	uc002mnc.3	+	1	1188	c.987C>T	c.(985-987)ggC>ggT	p.G329G	PPAN-P2RY11_uc002mna.3_Silent_p.G749G|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CCAGCCTGGGCTGCTGCTGCC	0.672000														146			29		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179720079	179720079	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179720079C>T	uc002une.2	-	18	3173	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K	CCDC141_uc002unf.1_Missense_Mutation_p.E498K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	444							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AATACCTCTTCTATCACCTCC	0.353000														77			8		0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229945	87229945	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:87229945C>T	uc003ydq.1	-	2	1031	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC7A13_uc003ydr.1_Silent_p.S302S	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	311						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATTGGTCTCGATGATTTAA	0.388000														147			32		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17277377	17277377	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17277377C>A	uc001iou.2	+	6	1631	c.1218C>A	c.(1216-1218)ggC>ggA	p.G406G		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	406	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTGGAAGGCGAGGAGAGCA	0.502000														96			20		1.40151e-16	1.67335e-16	1	1	0
ADCK2	90956	broad.mit.edu	37	7	140386814	140386814	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:140386814G>A	uc003vvy.1	+	4	1508	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	ADCK2_uc003vvz.3_Missense_Mutation_p.A444T	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	444	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTTTGTCCATGCAGACCTTCA	0.537000														143			29		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202222	6202222	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6202222G>A	uc001amb.2	-	14	2513	c.2402C>T	c.(2401-2403)gCc>gTc	p.A801V	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	801	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACTCCGAATGGCGTTGTCCTC	0.577000														384			36		0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821672	35821672	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35821672C>T	uc021wit.1	-	0	261	c.261G>A	c.(259-261)tgG>tgA	p.W87*	KCNE1_uc010gmp.3_Nonsense_Mutation_p.W87*|KCNE1_uc002ytz.3_Nonsense_Mutation_p.W87*|KCNE1_uc010gmq.3_Nonsense_Mutation_p.W87*|KCNE1_uc010gmr.3_Nonsense_Mutation_p.W87*|KCNE1_uc010gms.3_Nonsense_Mutation_p.W87*|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	87			W -> R (in LQT5).		blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CCTTCTCTTGCCAGGCATCGG	0.552000														161			42		0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115759981	115759981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115759981G>A	uc011lwy.2	-	4	1798	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AAAACTTTCCGACATTGCTTA	0.418000														76			8		0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153642341	153642341	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153642341C>T	uc001fcr.3	-	2	160	c.79G>A	c.(79-81)Gta>Ata	p.V27I	ILF2_uc010pdy.2_5'UTR|ILF2_uc009wol.1_5'UTR|TRNA_Met_uc021paa.1_5'Flank	NM_004515	NP_004506	Q12905	ILF2_HUMAN	Homo sapiens interleukin enhancer binding factor 2, 45kDa (ILF2), mRNA.	27					immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATATGTGGTACAAAGGGCCTG	0.388000														118			25		0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61488887	61488887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61488887G>A	uc002ydp.3	-	3	1191	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	TCFL5_uc002ydo.3_Silent_p.G139G|TCFL5_uc002ydq.3_Silent_p.G365G	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	366					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.G366G(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TGGCACCTTCGCCCACATTCT	0.582000														240			54		0	0	1	0	0
CD74	972	broad.mit.edu	37	5	149786471	149786471	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149786471C>T	uc003lsc.3	-	2	538	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CD74_uc003lsd.3_Silent_p.A117A|CD74_uc003lse.3_Silent_p.A117A	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	117	CLIP.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCATGGGCAGCGCCTGCATCA	0.682000			T	ROS1	NSCLC									26			6		0	0	1	0	0
ARHGEF26	26084	broad.mit.edu	37	3	153973185	153973185	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153973185G>A	uc021xgc.1	+	14	2823	c.2539G>A	c.(2539-2541)Gag>Aag	p.E847K	ARHGEF26_uc011bog.1_Missense_Mutation_p.E847K|ARHGEF26_uc011boh.1_3'UTR|ARHGEF26_uc011boi.1_Missense_Mutation_p.E115K	NM_001251962	NP_001238891	Q96DR7	ARHGQ_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 26 (ARHGEF26), transcript variant 1, mRNA.	847	SH3.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	p.K846N(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						ATGTGCCAAGGAGATAACATG	0.458000														99			16		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40111947	40111947	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40111947A>G	uc002xka.1	-	16	2646	c.2468_splice	c.e16+1	p.R823_splice	CHD6_uc002xkd.2_Splice_Site_p.R801_splice	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	823	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CACAAGTCTCACCTTCTCTGG	0.413000														59			12		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969448	5969448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5969448G>A	uc002kmz.4	-	17	1745	c.1585C>T	c.(1585-1587)Ctt>Ttt	p.L529F	L3MBTL4_uc002kmy.4_Missense_Mutation_p.L520F|L3MBTL4_uc010dkt.3_Missense_Mutation_p.L529F	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	529					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACGCCTGGAAGCAACTTGCAG	0.647000														174			20		0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49348051	49348051	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49348051A>G	uc003cwq.2	-	8	1033	c.954_splice	c.e8+1	p.Q318_splice	USP4_uc003cwp.2_Splice_Site_p.Q48_splice|USP4_uc003cwr.2_Splice_Site_p.Q271_splice	NM_003363	NP_003354	Q13107	UBP4_HUMAN	Homo sapiens ubiquitin specific peptidase 4 (proto-oncogene) (USP4), transcript variant 1, mRNA.	318					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TCTCTCCTCTACCTGCAAAGC	0.507000														116			22		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564749	37564749	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37564749C>T	uc002hrv.4	-	16	3937	c.3725G>A	c.(3724-3726)gGc>gAc	p.G1242D	MED1_uc010wee.2_Missense_Mutation_p.G1070D|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1242	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TGACTTCATGCCAGAGCTTGA	0.488000										HNSCC(31;0.082)				107			28		0	0	1	0	0
AARSD1	80755	broad.mit.edu	37	17	41116151	41116151	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41116151G>A	uc010whg.2	-	6	1011	c.665C>T	c.(664-666)aCa>aTa	p.T222I	AARSD1_uc002icd.3_Missense_Mutation_p.T161I|AARSD1_uc010cyu.1_Missense_Mutation_p.T48I	NM_001136042	NP_079543	Q9BTE6	AASD1_HUMAN	Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA.	48					alanyl-tRNA aminoacylation	cytoplasm	ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1)	17		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		GAAAAGCACTGTGTCTTCCAG	0.582000														145			34		0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20599956	20599956	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:20599956C>A	uc003gpr.1	+	32	3834	c.3630C>A	c.(3628-3630)ctC>ctA	p.L1210L	SLIT2_uc003gps.1_Silent_p.L1202L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1210	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGGTAGAACTCTATCGGGGGC	0.473000														174			45		1.8453e-21	2.26605e-21	1	1	0
SIX5	147912	broad.mit.edu	37	19	46271482	46271482	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46271482G>A	uc002pdb.3	-	0	1016	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_175875	NP_787071	Q8N196	SIX5_HUMAN	Homo sapiens SIX homeobox 5 (SIX5), mRNA.	207						cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCTCCTTGAAGCAGTAGACTG	0.687000														40			8		0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73414462	73414462	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73414462C>T	uc003hgk.2	-	2	274	c.237G>A	c.(235-237)caG>caA	p.Q79Q		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	79					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TAAAGAACAACTGCTCAGGGT	0.483000														133			28		0	0	1	0	0
STXBP1	6812	broad.mit.edu	37	9	130430387	130430387	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130430387C>T	uc004brk.2	+	9	1020	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	STXBP1_uc004brl.2_Missense_Mutation_p.R275W	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	275					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	p.R275R(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CGGGGAGGCACGGGTGAAGGA	0.592000														103			12		0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18807857	18807857	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:18807857A>C	uc001ipr.2	+	8	964	c.904A>C	c.(904-906)Aaa>Caa	p.K302Q	CACNB2_uc001ipt.2_Missense_Mutation_p.K264Q|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Missense_Mutation_p.K278Q|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.K274Q|CACNB2_uc001ipv.3_Missense_Mutation_p.K250Q|CACNB2_uc009xka.2_Missense_Mutation_p.K236Q|CACNB2_uc001ipw.2_Missense_Mutation_p.K209Q|CACNB2_uc001ipx.2_Missense_Mutation_p.K247Q|CACNB2_uc010qcm.2_Missense_Mutation_p.K248Q|CACNB2_uc001ipz.2_Missense_Mutation_p.K224Q|CACNB2_uc001ipy.2_Missense_Mutation_p.K248Q|CACNB2_uc010qcn.2_Missense_Mutation_p.K216Q|CACNB2_uc010qco.1_Missense_Mutation_p.K216Q|CACNB2_uc001iqa.2_Missense_Mutation_p.K254Q|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	302					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TATGATGCAAAAAGCGCTGTT	0.338000														139			28		0	0	1	0	0
CYP4F8	11283	broad.mit.edu	37	19	15733064	15733064	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15733064C>T	uc002nbi.3	+	6	622	c.558C>T	c.(556-558)acC>acT	p.T186T	CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	187					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						AGGGCAGCACCTGTCTGGATG	0.587000														66			15		0	0	1	0	0
NKRF	55922	broad.mit.edu	37	X	118724025	118724025	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:118724025G>A	uc022cdk.1	-	3	1630	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	NKRF_uc004erq.3_Silent_p.L455L|NKRF_uc004err.3_Silent_p.L455L	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	455					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GTGTCGTTCAGCGTGCACACG	0.428000														123			44		0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48604665	48604665	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48604665G>A	uc010xdp.2	+	11	2025	c.1487G>A	c.(1486-1488)cGt>cAt	p.R496H	SMAD4_uc002lfb.4_Missense_Mutation_p.R341H	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	496	MH2.				BMP signaling pathway|SMAD protein complex assembly|SMAD protein signal transduction|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of SMAD protein import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|R-SMAD binding|protein homodimerization activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.R496H(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GATGACCTTCGTCGCTTATGC	0.468000														90			32		0	0	1	0	0
ZNF416	55659	broad.mit.edu	37	19	58083494	58083494	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58083494A>C	uc002qpf.3	-	3	1949	c.1778T>G	c.(1777-1779)aTt>aGt	p.I593S		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GAGTTAAACAATGTTAGATCT	0.458000														238			47		0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118758448	118758448	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:118758448C>A	uc002tlj.3	-	3	480	c.312G>T	c.(310-312)gaG>gaT	p.E104D	CCDC93_uc010fld.2_Missense_Mutation_p.E160D	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	104										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TCTGGTGGGGCTCCAGCTGGT	0.453000														90			5		3.59834e-05	3.75534e-05	1	1	0
TWF1	5756	broad.mit.edu	37	12	44191256	44191256	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44191256C>T	uc001roa.3	-	7	740	c.712_splice	c.e7-1	p.E238_splice	TWF1_uc001rnz.3_Splice_Site_p.E106_splice|TWF1_uc001rob.3_Splice_Site_p.E211_splice|TWF1_uc001roc.3_Splice_Site_p.E106_splice	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	204	ADF-H 2.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		TATCTATTTCCTGCCAATAAG	0.299000														32			5		0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3888139	3888139	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3888139C>T	uc003bpt.4	+	1	2575	c.1814C>T	c.(1813-1815)aCt>aTt	p.T605I	SUMF1_uc003bps.2_Intron|LRRN1_uc021wsh.1_Missense_Mutation_p.T605I	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	Homo sapiens leucine rich repeat neuronal 1 (LRRN1), mRNA.	605	Fibronectin type-III.					integral to membrane		p.Q604R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CATCAGCAGACTCAAAAGTCA	0.478000														196			47		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149248116	149248116	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149248116G>T	uc002twm.4	+	11	5213	c.4216G>T	c.(4216-4218)Gaa>Taa	p.E1406*	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Nonsense_Mutation_p.E664*|MBD5_uc002twp.3_Nonsense_Mutation_p.E456*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1406	PWWP.					chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTAGTAAGAGAAGACGACGT	0.403000														112			10		0.00621372	0.00630477	1	1	0
PRDM2	7799	broad.mit.edu	37	1	14075893	14075893	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:14075893A>C	uc001avi.3	+	5	1278	c.422A>C	c.(421-423)aAt>aCt	p.N141T	PRDM2_uc001avg.3_Missense_Mutation_p.N141T|PRDM2_uc001avh.3_Missense_Mutation_p.N141T|PRDM2_uc021ogk.1_5'UTR|PRDM2_uc001avk.3_5'UTR|PRDM2_uc009voe.3_Non-coding_Transcript|PRDM2_uc009vof.3_Non-coding_Transcript	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	141	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GTCTGGTACAATGGGGAAGAC	0.667000														50			8		0	0	1	0	0
FBLN7	129804	broad.mit.edu	37	2	112942917	112942917	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112942917G>A	uc002tho.1	+	7	1218	c.947_splice	c.e7+1	p.F316_splice	FBLN7_uc010fki.1_Splice_Site_p.F270_splice|FBLN7_uc010fkj.1_Splice_Site_p.F182_splice	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	316	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGTCTCCATTGTGAGTATCTC	0.572000														158			9		0	0	1	0	0
UBE3B	89910	broad.mit.edu	37	12	109959007	109959007	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109959007C>T	uc001top.3	+	19	2734	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	UBE3B_uc001toq.3_Missense_Mutation_p.R711C|UBE3B_uc001tos.3_Missense_Mutation_p.R138C|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Missense_Mutation_p.R711C	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	711	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GGGGGTCATCCGTGTGAAGTT	0.502000														212			63		0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435115	120435115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120435115G>A	uc003yoq.2	+	4	1038	c.817G>A	c.(817-819)Gcc>Acc	p.A273T		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	273	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCACTCAAAGCCATCCACCT	0.488000														179			33		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29769596	29769596	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29769596G>A	uc001iut.1	-	28	6000	c.5247C>T	c.(5245-5247)atC>atT	p.I1749I	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.I663I|SVIL_uc001iuu.1_Silent_p.I1323I|SVIL_uc009xlc.2_Silent_p.I541I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AAACGCTGGTGATCTCAAACT	0.582000														208			44		0	0	1	0	0
RABEP1	9135	broad.mit.edu	37	17	5284791	5284791	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5284791G>A	uc002gbm.4	+	16	2702	c.2478G>A	c.(2476-2478)caG>caA	p.Q826Q	RABEP1_uc010vsw.1_Silent_p.Q783Q|RABEP1_uc002gbl.4_Silent_p.Q793Q|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	826					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCTTTCACAGACCCTTCAGG	0.458000														77			16		0	0	1	0	0
SRP68	6730	broad.mit.edu	37	17	74057202	74057202	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74057202G>T	uc002jqk.1	-	5	778	c.743C>A	c.(742-744)gCa>gAa	p.A248E	SRP68_uc010wsu.1_Missense_Mutation_p.A147E|SRP68_uc002jql.1_Missense_Mutation_p.A210E	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	Homo sapiens signal recognition particle 68kDa (SRP68), mRNA.	248					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						AATATTATATGCACAATAGCG	0.443000														191			37		4.65686e-17	5.57603e-17	1	1	0
KCNU1	157855	broad.mit.edu	37	8	36694367	36694367	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:36694367C>T	uc010lvw.3	+	13	1509	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	474	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ACATCATCTGCTTTGCTGAAT	0.428000														139			15		0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937494	33937494	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33937494C>T	uc003jic.2	+	0	1004	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 3 (RXFP3), mRNA.	217						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCAAGGCGCTGTGTGTGTG	0.692000														96			28		0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236755883	236755883	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236755883G>T	uc001hyd.2	-	9	1396	c.1244C>A	c.(1243-1245)tCt>tAt	p.S415Y		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	415					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACTTTATTAGAATCCATTTC	0.289000														13			5		5.9392e-07	6.36579e-07	1	1	0
IRS1	3667	broad.mit.edu	37	2	227660982	227660982	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227660982G>A	uc021vxn.1	-	0	2473	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	IRS1_uc002voh.4_Silent_p.L825L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	825					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTGGGCTCCAGCCTAGCCCCG	0.612000														306			25		0	0	1	0	0
SLC35A2	7355	broad.mit.edu	37	X	48762679	48762679	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48762679C>A	uc011mmm.1	-	4	913	c.591G>T	c.(589-591)tgG>tgT	p.W197C	SLC35A2_uc004dlo.1_Missense_Mutation_p.W169C|SLC35A2_uc011mml.1_Missense_Mutation_p.W182C|SLC35A2_uc004dlp.1_Missense_Mutation_p.W169C|SLC35A2_uc011mmn.1_Missense_Mutation_p.W108C|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	169					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GCAGGGAGGCCCACTGCAGCC	0.642000														29			3		0.115264	0.115636	1	1	0
GATAD2B	57459	broad.mit.edu	37	1	153800602	153800602	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153800602G>A	uc001fdb.4	-	1	466	c.222C>T	c.(220-222)ggC>ggT	p.G74G		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	74						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTTCTTCATAGCCCTTGACAC	0.463000														266			48		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753080	49753080	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753080G>T	uc003cxh.3	+	31	3169	c.3083G>T	c.(3082-3084)aGc>aTc	p.S1028I	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1028						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)		GTGGCACCCAGCTTCCTCAAC	0.612000														82			23		1.64293e-13	1.91604e-13	1	1	0
PGK1	5230	broad.mit.edu	37	X	77369650	77369650	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77369650G>A	uc004ecz.4	+	3	582	c.410G>A	c.(409-411)gGg>gAg	p.G137E	PGK1_uc011mqq.2_Missense_Mutation_p.G109E	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	137					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GATGCTTCTGGGAACAAGGTA	0.483000														228			53		0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	65005935	65005935	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:65005935C>T	uc002eoi.3	-	9	1857	c.1423G>A	c.(1423-1425)Gcc>Acc	p.A475T	CDH11_uc010cdn.3_Intron|CDH11_uc002eoj.3_Missense_Mutation_p.A475T|CDH11_uc010vin.2_Missense_Mutation_p.A349T	NM_001797	NP_001788	P55287	CAD11_HUMAN	Homo sapiens cadherin 11, type 2, OB-cadherin (osteoblast) (CDH11), mRNA.	475	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACCCTAATGGCCACTGGGACT	0.473000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)				73			8		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370661	26370661	+	Missense_Mutation	SNP	C	A	A	rs147417438		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370661C>A	uc010jqh.2	+	4	804	c.545C>A	c.(544-546)gCc>gAc	p.A182D	BTN3A2_uc003nhp.3_Missense_Mutation_p.A182D|BTN3A2_uc011dkd.2_Missense_Mutation_p.A140D|BTN3A2_uc011dke.2_Missense_Mutation_p.A159D|BTN3A2_uc010jqi.2_Missense_Mutation_p.A182D	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	182			A -> T (in dbSNP:rs12205731).			integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TGGAGCAACGCCAAGGGAGAG	0.557000														180			9		4.72057e-08	5.14176e-08	1	1	0
VPS26B	112936	broad.mit.edu	37	11	134115478	134115478	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134115478G>A	uc001qhe.3	+	5	1461	c.1005G>A	c.(1003-1005)agG>agA	p.R335R		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	335					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		ACAACTGCAGGCAGTAGGCCC	0.682000														38			10		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158735144	158735144	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158735144G>A	uc003qrf.3	+	0	1453	c.96G>A	c.(94-96)gaG>gaA	p.E32E	TULP4_uc011efo.2_Silent_p.E32E|TULP4_uc003qrg.3_Silent_p.E32E	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	32					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGAGAAGGAGAAGCCTGTGT	0.572000														93			17		0	0	1	0	0
APBA1	320	broad.mit.edu	37	9	72064647	72064647	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72064647G>A	uc004ahh.2	-	9	2310	c.2034C>T	c.(2032-2034)tcC>tcT	p.S678S		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	678	PDZ 1.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGGGGAGGATGGATCCCCAGC	0.478000														139			25		0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47644304	47644304	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47644304G>T	uc010rho.2	-	11	963	c.774C>A	c.(772-774)taC>taA	p.Y258*	MTCH2_uc010rhp.2_Nonsense_Mutation_p.Y110*	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN	Homo sapiens mitochondrial carrier 2 (MTCH2), nuclear gene encoding mitochondrial protein, mRNA.	258					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						ATATTGGGGAGTAAGGAGGGC	0.333000														62			12		4.36969e-10	4.89342e-10	1	1	0
TRIOBP	11078	broad.mit.edu	37	22	38120147	38120147	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38120147A>G	uc003atr.3	+	6	1855	c.1584A>G	c.(1582-1584)acA>acG	p.T528T	TRIOBP_uc003atu.3_Silent_p.T356T|TRIOBP_uc003atq.1_Silent_p.T528T|TRIOBP_uc003ats.1_Silent_p.T356T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	528					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					ACCCCAGAACATCCTGCGCCC	0.597000														375			46		0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28501868	28501868	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28501868G>A	uc003nll.2	+	4	592	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GPX5_uc003nlm.2_3'UTR|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	197					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCTGTCATGCGCTGGTCCCAC	0.512000														173			39		0	0	1	0	0
SOLH	6650	broad.mit.edu	37	16	599309	599309	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:599309G>A	uc002chi.3	+	5	2043	c.1680G>A	c.(1678-1680)gtG>gtA	p.V560V	SOLH_uc002chj.3_5'Flank	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	560	Calpain catalytic.				proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCCTGGCGGTGCTGGCGGAGC	0.741000														38			11		0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271327	59271327	+	Silent	SNP	C	A	A	rs141756362		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59271327C>A	uc001noa.1	+	0	279	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGACCATATCCTATACAAGCT	0.468000														288			74		3.31162e-33	4.18393e-33	1	1	0
CXXC1	30827	broad.mit.edu	37	18	47809894	47809894	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47809894C>T	uc002leq.4	-	11	2298	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdi.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.R379H|CXXC1_uc002ler.4_Missense_Mutation_p.R526H|CXXC1_uc010doy.3_Missense_Mutation_p.R522H	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	522					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTTCAATGCGTGTGGGGTA	0.592000														46			10		0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8495681	8495681	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8495681G>A	uc002mjv.3	+	4	953	c.512G>A	c.(511-513)aGc>aAc	p.S171N	MARCH2_uc002mjw.3_Missense_Mutation_p.S171N|MARCH2_uc002mjx.3_Intron	NM_016496	NP_057580	Q9P0N8	MARH2_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 2 (MARCH2), transcript variant 1, mRNA.	171					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CGGCTCCACAGCCAGCTGGAG	0.637000														113			21		0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96887164	96887164	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96887164T>G	uc001yfn.2	+	4	548	c.504T>G	c.(502-504)gaT>gaG	p.D168E		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	168					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AATAGGAGGATTCTGAGGTTC	0.343000														66			14		0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75425831	75425831	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:75425831G>A	uc002sng.2	-	0	815	c.230C>T	c.(229-231)gCg>gTg	p.A77V	TACR1_uc002snh.3_Missense_Mutation_p.A77V	NM_001058	NP_001049	P25103	NK1R_HUMAN	Homo sapiens tachykinin receptor 1 (TACR1), transcript variant long, mRNA.	77					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	GGAGGCCTCCGCGAAGGCCAG	0.502000														133			28		0	0	1	0	0
UBP1	7342	broad.mit.edu	37	3	33444367	33444367	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33444367G>A	uc003cfq.4	-	8	1487	c.957C>T	c.(955-957)gcC>gcT	p.A319A	FBXL2_uc011axr.1_Intron|FBXL2_uc011axq.1_Intron|UBP1_uc003cfr.4_Silent_p.A283A|UBP1_uc010hga.3_Silent_p.A319A	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	319					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TATTCACATAGGCTGTGGGGG	0.458000														37			5		0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140962828	140962828	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140962828C>T	uc003llb.4	-	5	706	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	DIAPH1_uc003llc.4_Missense_Mutation_p.A180T|DIAPH1_uc021yep.1_Missense_Mutation_p.A189T|DIAPH1_uc021yeq.1_Missense_Mutation_p.A180T	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	189	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATAAGGAGGCCAAGCCTTCA	0.413000														205			52		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108626966	108626966	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108626966C>T	uc002tdv.3	+	8	1668	c.1392C>T	c.(1390-1392)ggC>ggT	p.G464G	SLC5A7_uc010ywm.2_Silent_p.G217G|SLC5A7_uc010fjj.3_Silent_p.G464G|SLC5A7_uc010ywn.2_Silent_p.G351G	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	464					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TCTACCCTGGCTATTACCCTG	0.418000														136			21		0	0	1	0	0
MAML1	9794	broad.mit.edu	37	5	179192579	179192579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179192579C>T	uc003mkm.3	+	1	831	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	MAML1_uc003mkn.1_Missense_Mutation_p.R190C	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	190					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	p.R190H(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAACAAAAAGCGTCTGGCTGA	0.557000														65			31		0	0	1	0	0
EIF2B5	8893	broad.mit.edu	37	3	183860674	183860674	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183860674G>T	uc003fmp.3	+	11	2018	c.1654_splice	c.e11+1	p.V552_splice	EIF2B5_uc003fmq.3_Splice_Site_p.V273_splice	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa (EIF2B5), mRNA.	552	W2.				RNA metabolic process|astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGACATCAAAGGTGAGTGGCA	0.507000														47			8		5.4927e-09	6.0639e-09	1	1	0
RHOV	171177	broad.mit.edu	37	15	41165267	41165267	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41165267A>C	uc001znd.3	-	2	850	c.700T>G	c.(700-702)Tgc>Ggc	p.C234G		NM_133639	NP_598378	Q96L33	RHOV_HUMAN	Homo sapiens ras homolog gene family, member V (RHOV), mRNA.	234					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CAAACGAAGCAGAAGAACTTC	0.572000														186			19		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527381	23527381	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23527381C>T	uc003jgo.3	+	10	2366	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	728					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R727W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGGCGGGGCTTTAGCAATA	0.597000										HNSCC(3;0.000094)				156			26		0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121489343	121489343	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121489343G>A	uc010hre.1	-	14	1861	c.1646C>T	c.(1645-1647)gCc>gTc	p.A549V	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.A416V	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	549					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding	p.A549S(1)		NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		GGCCTGCTTGGCCTTGGCTGC	0.502000														315			62		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105190563	105190563	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105190563A>C	uc003vda.1	+	7	1289	c.1058A>C	c.(1057-1059)gAg>gCg	p.E353A	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	353	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTTCTGGATGAGAAGATTCAG	0.378000														88			19		0	0	1	0	0
MNDA	4332	broad.mit.edu	37	1	158813851	158813851	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158813851T>G	uc001fsz.1	+	3	709	c.509T>G	c.(508-510)gTg>gGg	p.V170G		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	170					B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					TCTGCAGCTGTGGATCATCCC	0.483000														252			54		0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96291155	96291155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96291155G>A	uc001kjr.2	+	11	2382	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	733						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TATCACATCGGAAAAGCTGTT	0.358000														122			18		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155746214	155746214	+	Missense_Mutation	SNP	G	A	A	rs140447805		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155746214G>A	uc001flz.2	-	15	2247	c.2150C>T	c.(2149-2151)cCg>cTg	p.P717L	GON4L_uc021paz.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.P717L|GON4L_uc009wrh.1_Missense_Mutation_p.P717L|GON4L_uc001fma.1_Missense_Mutation_p.P717L|GON4L_uc001fmb.4_5'UTR|GON4L_uc001fmc.3_Missense_Mutation_p.P717L|GON4L_uc001fmd.4_Missense_Mutation_p.P717L|GON4L_uc009wri.3_Missense_Mutation_p.P303L|GON4L_uc009wrj.2_Intron|GON4L_uc001fme.3_Missense_Mutation_p.P545L	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	717					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTGGCCTCCGGATTGAGGTT	0.428000														109			27		0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837331	837331	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:837331G>A	uc001lry.3	+	5	577	c.433G>A	c.(433-435)Gct>Act	p.A145T	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Missense_Mutation_p.A145T|CD151_uc001lsa.3_Missense_Mutation_p.A145T|CD151_uc001lsb.3_Missense_Mutation_p.A145T	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	145					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCAGCGCTGTGGACCA	0.667000														120			23		0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276577	97276577	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97276577A>C	uc002swn.4	-	10	1351	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	KANSL3_uc002swh.4_Missense_Mutation_p.F290C|KANSL3_uc002swi.4_Missense_Mutation_p.F303C|KANSL3_uc002swj.4_Non-coding_Transcript|KANSL3_uc002swk.4_Missense_Mutation_p.F315C|KANSL3_uc010fhz.3_Missense_Mutation_p.F196C|KANSL3_uc002swl.4_Missense_Mutation_p.F303C|KANSL3_uc002swm.4_Non-coding_Transcript|KANSL3_uc010yur.2_Missense_Mutation_p.F196C|KANSL3_uc002swp.1_Missense_Mutation_p.F303C|KANSL3_uc002swq.1_Missense_Mutation_p.F174C|KANSL3_uc010fhy.1_Missense_Mutation_p.F303C	NM_001115016	NP_060461	Q9P2N6	K1310_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 3 (KANSL3), transcript variant 1, mRNA.	402																	ACCAATGACAAAGAGGACTGG	0.473000														232			65		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124320029	124320029	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124320029C>T	uc001uft.4	+	26	4527	c.4502C>T	c.(4501-4503)cCg>cTg	p.P1501L		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1501	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCACAACTTCCGGAAGAGGCA	0.348000														24			6		0	0	1	0	0
ACSBG2	81616	broad.mit.edu	37	19	6156513	6156513	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6156513T>C	uc002mef.1	+	4	685	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ACSBG2_uc002mee.1_Intron|ACSBG2_uc002meg.1_Missense_Mutation_p.V153A|ACSBG2_uc002meh.1_Missense_Mutation_p.V153A|ACSBG2_uc002mei.1_Missense_Mutation_p.V103A|ACSBG2_uc010xiz.1_Missense_Mutation_p.V153A	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	153					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATGCCAAAGTGAACATCTTG	0.468000														165			42		0	0	1	0	0
ZEB1	6935	broad.mit.edu	37	10	31810297	31810297	+	Missense_Mutation	SNP	A	C	C	rs146821579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31810297A>C	uc001ivs.4	+	6	2097	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H	ZEB1_uc001ivr.4_Missense_Mutation_p.Q460H|ZEB1_uc010qef.2_Missense_Mutation_p.Q460H|ZEB1_uc009xlj.1_Missense_Mutation_p.Q604H|ZEB1_uc010qeg.1_Missense_Mutation_p.Q537H|ZEB1_uc009xlk.1_Missense_Mutation_p.Q460H|ZEB1_uc001ivu.4_Missense_Mutation_p.Q679H|ZEB1_uc010qeh.2_Missense_Mutation_p.Q611H|ZEB1_uc001ivv.4_Missense_Mutation_p.Q658H|ZEB1_uc001ivt.4_Missense_Mutation_p.Q460H|ZEB1_uc009xlo.2_Missense_Mutation_p.Q661H|ZEB1_uc009xlp.3_Missense_Mutation_p.Q662H	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	678					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TAAATCTACAAAGTCCTTTGA	0.448000														84			19		0	0	1	0	0
NQO2	4835	broad.mit.edu	37	6	3010414	3010414	+	Missense_Mutation	SNP	G	T	T	rs55771117		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3010414G>T	uc003mus.2	+	2	501	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	NQO2_uc003mup.1_Missense_Mutation_p.D55Y|NQO2_uc003mut.2_Missense_Mutation_p.D55Y	NM_000904	NP_000895	P16083	NQO2_HUMAN	Homo sapiens NAD(P)H dehydrogenase, quinone 2 (NQO2), mRNA.	55						cytoplasm|nucleus	NADPH dehydrogenase (quinone) activity|coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CACAGACAAAGATATCACTGG	0.413000														62			7		2.0095e-06	2.13635e-06	1	1	0
RIC8A	60626	broad.mit.edu	37	11	209565	209565	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:209565C>T	uc001lof.3	+	2	616	c.291C>T	c.(289-291)gaC>gaT	p.D97D	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.D97D|RIC8A_uc001loh.3_Silent_p.D90D	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	97						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTATGCTGACATCTCTGTCT	0.612000														117			31		0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628302	46628302	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46628302C>T	uc002inn.3	-	1	1090	c.690G>A	c.(688-690)cgG>cgA	p.R230R	HOXB3_uc010wlm.2_Silent_p.R157R|HOXB3_uc010dbf.3_Silent_p.R230R|HOXB3_uc010dbg.3_Silent_p.R230R|HOXB3_uc002ino.3_Silent_p.R230R|HOXB3_uc010wlk.2_Silent_p.R98R|HOXB3_uc010wll.2_Silent_p.R157R	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	230					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						TCTTGATCTGCCGCTCGCTGA	0.612000														343			68		0	0	1	0	0
SLC40A1	30061	broad.mit.edu	37	2	190426914	190426914	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190426914A>G	uc002uqp.4	-	7	1757	c.1406T>C	c.(1405-1407)cTt>cCt	p.L469P		NM_014585	NP_055400	Q9NP59	S40A1_HUMAN	Homo sapiens solute carrier family 40 (iron-regulated transporter), member 1 (SLC40A1), mRNA.	469					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AAAGGACCAAAGACCtataat	0.284000														23			11		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140175828	140175828	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140175828G>A	uc003lhd.2	+	0	1385	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A427T|PCDHAC2_uc011czy.2_Missense_Mutation_p.A427T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	441	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGTGACCGCACGGGACGG	0.632000														364			90		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6311654	6311654	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6311654T>G	uc002kmz.4	-	3	130	c.-30_splice	c.e3-1		L3MBTL4_uc002kmy.4_Splice_Site|L3MBTL4_uc010dkt.3_Splice_Site	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGCAGTGGTTTTCTGTAAAAC	0.448000														158			36		0	0	1	0	0
CELF2	10659	broad.mit.edu	37	10	11363230	11363230	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11363230C>T	uc001ikk.2	+	11	1371	c.1211C>T	c.(1210-1212)aCc>aTc	p.T404I	CELF2_uc010qbj.1_Missense_Mutation_p.T385I|CELF2_uc001iki.4_Missense_Mutation_p.T379I|CELF2_uc001ikl.4_Missense_Mutation_p.T392I|CELF2_uc010qbl.1_Missense_Mutation_p.T355I|CELF2_uc010qbm.1_Missense_Mutation_p.T151I|CELF2_uc001iko.4_Missense_Mutation_p.T359I|CELF2_uc001ikp.4_Missense_Mutation_p.T361I|CELF2_uc010qbo.1_Missense_Mutation_p.T274I|CELF2_uc010qbp.1_Missense_Mutation_p.T151I	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	379	Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						ACGGCTGGCACCATGGACGCC	0.577000														167			35		0	0	1	0	0
CCAR1	55749	broad.mit.edu	37	10	70515188	70515188	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70515188C>T	uc001joo.3	+	12	1639	c.1520C>T	c.(1519-1521)tCg>tTg	p.S507L	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Missense_Mutation_p.S312L|CCAR1_uc009xpx.1_Missense_Mutation_p.S481L|CCAR1_uc001jon.1_Missense_Mutation_p.S453L|CCAR1_uc010qiz.1_Missense_Mutation_p.S492L|CCAR1_uc010qja.1_Missense_Mutation_p.S492L|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	507					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TGGTCTCCTTCGTTGGATGGA	0.428000														128			23		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21083650	21083650	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21083650T>C	uc021uie.1	+	0	189	c.68T>C	c.(67-69)gTc>gCc	p.V23A	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Missense_Mutation_p.V23A|C18orf8_uc010xaw.1_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	23										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCGAACCCTGTCAACTGCGTC	0.741000														162			23		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47884644	47884644	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47884644C>T	uc003cru.3	+	8	1264	c.838C>T	c.(838-840)Ctc>Ttc	p.L280F	DHX30_uc003crt.3_Missense_Mutation_p.L241F|DHX30_uc010hjr.1_Missense_Mutation_p.L308F	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	280						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGTCTACACTCACCCTGCT	0.532000														200			36		0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701395	143701395	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143701395C>T	uc003wdt.1	+	0	306	c.306C>T	c.(304-306)taC>taT	p.Y102Y		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TACAACTGTACTTCTTCATTG	0.478000														199			38		0	0	1	0	0
CLSTN3	9746	broad.mit.edu	37	12	7288002	7288002	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7288002A>T	uc001qss.3	+	2	1037	c.499A>T	c.(499-501)Aca>Tca	p.T167S	CLSTN3_uc001qsr.3_Missense_Mutation_p.T155S	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	155	Cadherin 2.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGCGGCTGTGACAGAGGGGAA	0.567000														147			21		0	0	1	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42117590	42117590	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42117590C>T	uc001zok.4	+	31	4787	c.4501C>T	c.(4501-4503)Ctg>Ttg	p.L1501L	MAPKBP1_uc010bci.3_Silent_p.L1218L|MAPKBP1_uc010udb.2_Silent_p.L1334L|MAPKBP1_uc001zoj.4_Silent_p.L1495L|MAPKBP1_uc010bcj.3_Silent_p.L1002L|MAPKBP1_uc010bck.3_Silent_p.L712L|MAPKBP1_uc010bcl.3_Silent_p.L1000L|JMJD7-PLA2G4B_uc010bcm.1_5'Flank|JMJD7-PLA2G4B_uc001zom.2_5'Flank|JMJD7-PLA2G4B_uc001zon.2_5'Flank|JMJD7-PLA2G4B_uc001zoo.4_5'Flank|JMJD7-PLA2G4B_uc010bcn.3_5'Flank	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	1501										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATACTCAGAACTGTTGCTTCG	0.602000														101			12		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52240794	52240794	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52240794C>A	uc003jou.3	+	26	3721	c.3307C>A	c.(3307-3309)Ctt>Att	p.L1103I	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.L634I	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	1103					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGCTTAAATCTTACTATAAG	0.328000														110			27		1.06801e-11	1.22009e-11	1	1	0
GCK	2645	broad.mit.edu	37	7	44187283	44187283	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44187283C>T	uc003tkl.2	-	6	1299	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	GCK_uc003tkj.1_Missense_Mutation_p.V276M|GCK_uc003tkk.1_Missense_Mutation_p.V278M	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	277					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CTCTCGTCCACCAGGCGGTCA	0.682000														242			10		0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149462850	149462850	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149462850C>T	uc003wgd.2	-	4	882	c.741G>A	c.(739-741)gcG>gcA	p.A247A	ZNF467_uc003wgc.3_Intron	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	Homo sapiens zinc finger protein 467 (ZNF467), mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCCGCACTCCGCGCACGGGT	0.677000														54			4		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10091784	10091784	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10091784C>T	uc002mmq.1	-	32	2571	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	829	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CGCTCTCCTTCCAGGCCTGGC	0.522000														116			35		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123754818	123754818	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754818T>G	uc001pzi.3	-	2	635	c.427A>C	c.(427-429)Act>Cct	p.T143P		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	143						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						AAGTAAGCAGTATACATGATC	0.453000														107			27		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073243	34073243	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34073243T>A	uc002hjv.2	-	5	1301	c.1273A>T	c.(1273-1275)Aca>Tca	p.T425S		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	425					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGCTGTCTGTTTCTTCATGA	0.582000														386			44		0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90691094	90691094	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:90691094G>A	uc022bzs.1	+	0	518	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PABPC5_uc004efg.3_Missense_Mutation_p.R173H	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	173	RRM 2.					cytoplasm	RNA binding|nucleotide binding	p.R173R(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTCAACAACCGCCAGGTGTAT	0.498000														73			37		0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8619390	8619390	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8619390G>A	uc002mkg.3	-	3	435	c.297C>T	c.(295-297)atC>atT	p.I99I	MYO1F_uc010xkf.2_Silent_p.I99I	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	99	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TCTCACAGTCGATAAGCATGT	0.602000														249			60		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315768	30315768	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30315768G>A	uc009xle.2	-	2	3446	c.3309C>T	c.(3307-3309)atC>atT	p.I1103I	KIAA1462_uc001iux.3_Silent_p.I1103I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.I965I	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1103										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCGCTCTCCGGATGCCCGGCA	0.627000														230			85		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75221405	75221405	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75221405C>A	uc003uds.2	-	3	398	c.353G>T	c.(352-354)aGa>aTa	p.R118I	HIP1_uc011kfz.2_Missense_Mutation_p.R118I	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	118	ENTH.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAATTCATTTCTGTATCTCAG	0.502000			T	PDGFRB	CMML									159			44		4.44401e-20	5.4145e-20	1	1	0
KIAA1614	57710	broad.mit.edu	37	1	180905169	180905169	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180905169G>T	uc001gok.2	+	4	2191	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	KIAA1614_uc001gol.1_Missense_Mutation_p.K329N|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	708										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AAGATGCCAAGCCTCCTGACC	0.572000														264			50		1.32667e-27	1.66279e-27	1	1	0
HYAL1	3373	broad.mit.edu	37	3	50337931	50337931	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50337931G>A	uc003czp.3	-	3	1423	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL3_uc021wyn.1_5'Flank|HYAL3_uc003cze.2_5'Flank|HYAL3_uc003czf.2_5'Flank|HYAL3_uc003czd.2_5'Flank|HYAL3_uc003czg.2_5'Flank|HYAL3_uc021wyo.1_5'Flank|HYAL3_uc003czi.3_5'Flank|HYAL3_uc003czk.4_5'Flank|HYAL3_uc003czj.3_5'Flank|HYAL1_uc003czm.3_Missense_Mutation_p.R249W|HYAL1_uc003czo.3_Missense_Mutation_p.R172W|HYAL1_uc003czq.3_Missense_Mutation_p.R401W|HYAL1_uc003czr.3_Missense_Mutation_p.R431W|HYAL1_uc003czn.3_Missense_Mutation_p.R92W|HYAL1_uc003czs.3_Missense_Mutation_p.R431W|HYAL1_uc003czt.3_3'UTR	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552000														184			10		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198796	52198796	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:52198796T>G	uc002xwq.4	-	0	912	c.570A>C	c.(568-570)caA>caC	p.Q190H	ZNF217_uc010gij.1_Missense_Mutation_p.Q182H	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	190					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCTCCAAGCCTTGCTGCAGTT	0.512000														352			18		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618972	129618972	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129618972C>T	uc021zfb.1	+	20	3104	c.2999C>T	c.(2998-3000)gCc>gTc	p.A1000V	LAMA2_uc003qbn.3_Missense_Mutation_p.A1000V|LAMA2_uc003qbo.3_Missense_Mutation_p.A1000V	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1000	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GACCGCTGTGCCCACGGCTAT	0.453000														59			8		0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39450202	39450202	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39450202G>T	uc003cjq.3	+	2	324	c.239G>T	c.(238-240)aGg>aTg	p.R80M	RPSA_uc003cjp.3_Missense_Mutation_p.R80M|SNORA62_uc010hhs.3_5'Flank	NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	80	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|rRNA export from nucleus|ribosomal small subunit assembly|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ATATCCTCCAGGAATACTGGC	0.388000														139			9		3.09899e-07	3.33423e-07	1	1	0
FLNC	2318	broad.mit.edu	37	7	128496602	128496602	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128496602T>C	uc003vnz.4	+	43	7491	c.7282T>C	c.(7282-7284)Tcc>Ccc	p.S2428P	FLNC_uc003voa.4_Missense_Mutation_p.S2395P	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2428	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCAGCCAGCGTCCTTTGCCGT	0.652000														227			23		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79979292	79979292	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79979292T>C	uc004edt.3	-	15	1868	c.1605A>G	c.(1603-1605)ggA>ggG	p.G535G	BRWD3_uc004edp.3_Silent_p.G364G|BRWD3_uc004edq.3_Silent_p.G131G|BRWD3_uc010nmj.2_Silent_p.G131G|BRWD3_uc004edr.3_Silent_p.G205G|BRWD3_uc004eds.3_Silent_p.G131G|BRWD3_uc004edo.3_Silent_p.G131G|BRWD3_uc004edu.3_Silent_p.G205G|BRWD3_uc004edv.3_Silent_p.G131G|BRWD3_uc004edw.3_Silent_p.G131G|BRWD3_uc004edx.3_Silent_p.G131G|BRWD3_uc004edy.3_Silent_p.G131G|BRWD3_uc004edz.3_Silent_p.G205G|BRWD3_uc004eea.3_Silent_p.G205G|BRWD3_uc004eeb.3_Silent_p.G131G	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	535										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGCAAATGTCCATGAGAAT	0.373000														39			22		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33057852	33057852	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33057852G>A	uc010geu.1	+	16	1740	c.1548_splice	c.e16-1	p.L516_splice	ITCH_uc002xak.2_Splice_Site_p.L475_splice|ITCH_uc010zuj.1_Splice_Site_p.L365_splice	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	516					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTCTTCCTCAGAGACAATGGA	0.423000														196			28		0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28053579	28053579	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28053579C>A	uc021yro.1	+	1	1148	c.321C>A	c.(319-321)gcC>gcA	p.A107A	ZNF165_uc003nkh.3_Silent_p.A107A|ZNF165_uc003nki.4_Silent_p.A107A	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	107	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATTTGCAGGCCTGGGTACATG	0.527000														108			20		5.35267e-07	5.74308e-07	1	1	0
GRM7	2917	broad.mit.edu	37	3	7620917	7620917	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:7620917T>C	uc003bqm.2	+	7	2598	c.2324T>C	c.(2323-2325)aTc>aCc	p.I775T	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.I775T|GRM7_uc003bql.2_Missense_Mutation_p.I775T|GRM7_uc003bqn.1_Missense_Mutation_p.I358T|GRM7_uc010hch.1_Missense_Mutation_p.I286T	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	775					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTATGCCATCAAGACTCGG	0.433000														86			27		0	0	1	0	0
TCTEX1D4	343521	broad.mit.edu	37	1	45271752	45271752	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45271752C>T	uc001cmp.3	-	1	1098	c.589G>A	c.(589-591)Gat>Aat	p.D197N	TCTEX1D4_uc021omu.1_Missense_Mutation_p.D197N|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank	NM_001013632	NP_001013654	Q5JR98	TC1D4_HUMAN	Homo sapiens Tctex1 domain containing 4 (TCTEX1D4), mRNA.	197										pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					GCCAGCCCATCGCGCGCCACG	0.672000														54			5		0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11024705	11024705	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11024705C>T	uc002mpz.3	+	5	948	c.822C>T	c.(820-822)caC>caT	p.H274H	CARM1_uc010dxn.3_Non-coding_Transcript|CARM1_uc002mqa.3_Silent_p.H57H	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	274					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTACCTCCACGCCAAGAAGT	0.637000														43			13		0	0	1	0	0
DNAJC6	9829	broad.mit.edu	37	1	65855014	65855014	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65855014G>A	uc001dce.1	+	9	1470	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	DNAJC6_uc001dcc.1_Silent_p.Q397Q|DNAJC6_uc001dcd.1_Silent_p.Q366Q|DNAJC6_uc010opc.1_Silent_p.Q353Q	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	366					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TAGAACTACAGCCCCATGACA	0.403000														109			14		0	0	1	0	0
NDUFA8	4702	broad.mit.edu	37	9	124914656	124914656	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124914656G>A	uc004blv.3	-	1	225	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_014222	NP_055037	P51970	NDUA8_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa (NDUFA8), nuclear gene encoding mitochondrial protein, mRNA.	28					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	GTGATGGGCCGCAGCTTTAAG	0.478000														66			11		0	0	1	0	0
CKB	1152	broad.mit.edu	37	14	103988793	103988793	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103988793C>T	uc001ynf.2	-	1	144	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	13	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GGCCGGGAAGCGCAGCTTCAG	0.711000														56			19		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6673409	6673409	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6673409A>C	uc022aqv.1	-	5	990	c.839T>G	c.(838-840)cTg>cGg	p.L280R	XKR5_uc003wqq.3_Missense_Mutation_p.L117R	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	280						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GGTGGCCAACAGCAACAGGAT	0.587000											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			5		0	0	1	0	0
CX3CL1	6376	broad.mit.edu	37	16	57416775	57416775	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57416775C>T	uc002eli.3	+	2	1092	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	342					cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CGGAGGCAGGCGGTGGGGCTG	0.657000														174			30		0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57431699	57431699	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57431699G>A	uc001smw.4	-	17	2155	c.1915C>T	c.(1915-1917)Cga>Tga	p.R639*	MYO1A_uc010sqz.2_Nonsense_Mutation_p.R477*|MYO1A_uc009zpd.3_Nonsense_Mutation_p.R639*	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	639	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CTCAGCAATCGGTACCTTTCC	0.627000														97			13		0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49064749	49064749	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49064749C>A	uc001zwz.3	-	12	1910	c.1717G>T	c.(1717-1719)Gac>Tac	p.D573Y	CEP152_uc001zwy.3_Missense_Mutation_p.D573Y|CEP152_uc001zxa.2_Missense_Mutation_p.D480Y	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	573					G2/M transition of mitotic cell cycle|centrosome duplication	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTATGACAGTCTTTGAGGTCA	0.378000														122			18		1.56452e-12	1.80666e-12	1	1	0
SFXN5	94097	broad.mit.edu	37	2	73198789	73198789	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73198789G>A	uc002siq.3	-	10	782	c.651C>T	c.(649-651)gtC>gtT	p.V217V	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Silent_p.V109V|SFXN5_uc010yrc.2_Silent_p.V66V|SFXN5_uc010fet.3_Intron|SFXN5_uc010fer.3_Non-coding_Transcript|SFXN5_uc010feq.3_5'UTR|SFXN5_uc010fes.3_5'UTR	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	217					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACCGCATCAGGACCACATTGC	0.592000														94			7		0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75101334	75101334	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75101334G>A	uc009xrc.3	-	6	736	c.615C>T	c.(613-615)gaC>gaT	p.D205D	TTC18_uc001jty.3_Silent_p.D205D|TTC18_uc009xrd.1_Silent_p.D13D	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	205							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					AAATGGGATAGTCCTTCTACA	0.408000														96			22		0	0	1	0	0
FLJ43860	389690	broad.mit.edu	37	8	142488817	142488817	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142488817C>T	uc003ywi.2	-	9	1225	c.1144G>A	c.(1144-1146)Gca>Aca	p.A382T	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	382							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TGGCCGTATGCCAGGAGGATG	0.637000														39			6		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10081698	10081698	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10081698C>A	uc002mmq.1	-	52	3921	c.3835G>T	c.(3835-3837)Gat>Tat	p.D1279Y		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1279	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGAACCATCTATGCCCTGC	0.582000														136			27		2.79863e-10	3.14589e-10	1	1	0
CPEB2	132864	broad.mit.edu	37	4	15060083	15060083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:15060083C>T	uc003gnk.2	+	8	2500	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	CPEB2_uc003gnl.2_Nonsense_Mutation_p.Q807*|CPEB2_uc003gnm.2_Nonsense_Mutation_p.Q804*|CPEB2_uc003gni.2_Nonsense_Mutation_p.Q826*|CPEB2_uc003gnn.2_Nonsense_Mutation_p.Q799*|CPEB2_uc003gnj.2_Nonsense_Mutation_p.Q796*	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	389					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAGCTCAGTTCAGGCACTCAT	0.378000														67			18		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79428591	79428591	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79428591T>G	uc003hlb.2	+	61	9773	c.9333T>G	c.(9331-9333)ttT>ttG	p.F3111L	FRAS1_uc003hlc.1_Missense_Mutation_p.F113L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3106	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCATATCTTTTTTAAAGTTG	0.473000														40			12		0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58145073	58145073	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58145073G>T	uc001spv.3	-	2	563	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	CDK4_uc010ssb.2_Intron|CDK4_uc001spw.3_Intron|DM110804_uc010ssc.1_5'Flank	NM_000075	NP_000066	P11802	CDK4_HUMAN	Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA.	91	Protein kinase.				G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TCAAACACCAGGGTTACCTTG	0.532000			Mis			melanoma			Hereditary Melanoma					224			47		2.77807e-22	3.42272e-22	1	1	0
SRR	63826	broad.mit.edu	37	17	2224884	2224884	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2224884C>A	uc002fue.1	+	5	636	c.568C>A	c.(568-570)Ctt>Att	p.L190I	SRR_uc002fui.1_Missense_Mutation_p.L41I	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN	Homo sapiens serine racemase (SRR), mRNA.	190					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|D-serine ammonia-lyase activity|L-serine ammonia-lyase activity|PDZ domain binding|calcium ion binding|glycine binding|magnesium ion binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGGAGGAATGCTTGCTGGAAT	0.388000														82			14		6.94344e-10	7.75807e-10	1	1	0
ULK3	25989	broad.mit.edu	37	15	75131059	75131059	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75131059C>T	uc010ulq.1	-	9	1063	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	ULK3_uc010ulp.1_Missense_Mutation_p.E253K|ULK3_uc010ulr.1_Missense_Mutation_p.E226K|ULK3_uc010bkf.1_Missense_Mutation_p.E343K|ULK3_uc002ayv.2_Missense_Mutation_p.E343K|ULK3_uc010uls.1_Missense_Mutation_p.E226K	NM_001099436	NP_001092906	Q6PHR2	ULK3_HUMAN	Homo sapiens unc-51-like kinase 3 (C. elegans) (ULK3), mRNA.	343						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(2)	2						GCCTTGAGCTCCTCAGCCCGG	0.627000														37			14		0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076496	93076496	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:93076496G>A	uc003kkl.1	-	0	814	c.774C>T	c.(772-774)ttC>ttT	p.F258F	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	258						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		TGCGGTTATAGAACCAAACTC	0.577000														45			12		0	0	1	0	0
GABBR2	9568	broad.mit.edu	37	9	101340265	101340265	+	Silent	SNP	G	A	A	rs56067237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101340265G>A	uc004ays.3	-	1	871	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	137					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TGGATGTGACGGATGGACAGA	0.512000														90			17		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22826268	22826268	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22826268C>T	uc002dli.3	+	0	409	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	113						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		GGGTACCAAGCGGTTGCCCCA	0.716000														40			9		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73714966	73714966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73714966G>A	uc001our.3	-	5	1085	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	UCP3_uc001ous.2_Missense_Mutation_p.R244W	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	244					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TTCATATACCGGGTCTTCACC	0.592000														179			31		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558931	140558931	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140558931C>T	uc011dai.2	+	0	1561	c.1316C>T	c.(1315-1317)aCc>aTc	p.T439I	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCAATATGACCGTGCTGGTG	0.567000														819			76		0	0	1	0	0
GPR153	387509	broad.mit.edu	37	1	6313786	6313786	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6313786G>A	uc001amp.2	-	2	1038	c.778C>T	c.(778-780)Cct>Tct	p.P260S		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		ACCAGCACAGGGAAGCCCATG	0.632000														127			32		0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799016	45799016	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:45799016G>A	uc001jcc.1	-	3	1164	c.855C>T	c.(853-855)agC>agT	p.S285S	OR13A1_uc001jcd.1_Silent_p.S281S|OR13A1_uc021ppq.1_Silent_p.S285S	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TCTTCCCTGCGCTGTAGCCAG	0.552000														119			15		0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4558383	4558383	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4558383C>T	uc010dud.2	-	1	349	c.87G>A	c.(85-87)gaG>gaA	p.E29E	SEMA6B_uc010xih.1_Silent_p.E29E	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	29					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCGGCTCCTCAGGAAAGA	0.711000											OREG0025169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778862	3778862	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3778862G>A	uc002cvv.3	-	30	6390	c.6186C>T	c.(6184-6186)atC>atT	p.I2062I	CREBBP_uc002cvw.3_Silent_p.I2024I	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2062					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CGCTGGGTGAGATGCTCCTGG	0.652000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome							184			12		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167088604	167088604	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167088604T>C	uc001geb.1	+	3	572	c.556T>C	c.(556-558)Tac>Cac	p.Y186H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	186					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGATCCAGTACCTGGGTGT	0.567000														114			8		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68229498	68229498	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68229498G>T	uc001xka.2	-	32	6189	c.6050C>A	c.(6049-6051)gCt>gAt	p.A2017D	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_5'Flank|ZFYVE26_uc001xkc.4_Missense_Mutation_p.A2017D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2017					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATAGGCAGCAGCAACTAAAAT	0.498000														71			9		5.4927e-09	6.0639e-09	1	1	0
SGK1	6446	broad.mit.edu	37	6	134583014	134583014	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:134583014A>C	uc003qep.3	-	1	940	c.342T>G	c.(340-342)ttT>ttG	p.F114L	SGK1_uc003qeo.4_Intron			O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.	0	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		AAATACAAGAAAAACAAAGGC	0.368000														48			10		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100421510	100421510	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100421510C>T	uc003uwn.1	-	2	658	c.167G>A	c.(166-168)cGc>cAc	p.R56H	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Missense_Mutation_p.R56H|EPHB4_uc011kkf.1_Missense_Mutation_p.R56H|EPHB4_uc011kkg.1_Missense_Mutation_p.R56H|EPHB4_uc011kkh.1_Missense_Mutation_p.R56H	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	56					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTCGTAGGTGCGCACGCTGTG	0.687000														50			8		0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67558913	67558913	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67558913T>G	uc001ddl.1	-	6	1089	c.978A>C	c.(976-978)aaA>aaC	p.K326N	C1orf141_uc001ddm.1_Missense_Mutation_p.K326N|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	326										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						CCACAAATTGTTTTGTTAGGC	0.328000														125			15		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113810480	113810480	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113810480G>A	uc001tve.2	+	2	446	c.411G>A	c.(409-411)acG>acA	p.T137T	PLBD2_uc001tvf.2_Silent_p.T137T	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	137					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GGATGAACACGGTGGTGAATT	0.612000														321			55		0	0	1	0	0
ABI1	10006	broad.mit.edu	37	10	27149786	27149786	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27149786C>T	uc001isx.3	-	0	231	c.7G>A	c.(7-9)Gag>Aag	p.E3K	ABI1_uc001itb.3_Missense_Mutation_p.E3K|ABI1_uc001ite.3_Missense_Mutation_p.E3K|ABI1_uc010qdh.2_Missense_Mutation_p.E3K|ABI1_uc010qdi.2_Missense_Mutation_p.E3K|ABI1_uc001itc.3_Missense_Mutation_p.E3K|ABI1_uc001isy.3_Missense_Mutation_p.E3K|ABI1_uc001itd.3_Missense_Mutation_p.E3K|ABI1_uc010qdj.2_Missense_Mutation_p.E3K|ABI1_uc001ita.3_Missense_Mutation_p.E3K|ABI1_uc010qdk.2_Missense_Mutation_p.E3K|ABI1_uc001isz.3_Missense_Mutation_p.E3K	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	Homo sapiens abl-interactor 1 (ABI1), transcript variant 1, mRNA.	3					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCAGCTCTGCCATTTTC	0.562000														181			9		0	0	1	0	0
UBN2	254048	broad.mit.edu	37	7	138978654	138978654	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138978654G>T	uc011kqr.2	+	16	3921	c.3921G>T	c.(3919-3921)caG>caT	p.Q1307H		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1307										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTTTACAGCCAGGAGGAG	0.438000														98			7		0.000157383	0.000162836	1	1	0
ZKSCAN4	387032	broad.mit.edu	37	6	28219397	28219397	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28219397C>A	uc003nks.1	-	0	606	c.362G>T	c.(361-363)gGg>gTg	p.G121V	ZKSCAN4_uc011dlb.1_Intron	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	121	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CACCTCCTCCCCGCTCTCTGG	0.597000														102			21		4.26978e-12	4.90093e-12	1	1	0
CHST15	51363	broad.mit.edu	37	10	125804230	125804230	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125804230C>T	uc001lhn.3	-	2	1486	c.752G>A	c.(751-753)cGc>cAc	p.R251H	CHST15_uc001lhm.3_Missense_Mutation_p.R251H|CHST15_uc010que.2_Missense_Mutation_p.R251H|CHST15_uc001lho.3_Missense_Mutation_p.R251H	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	251					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGCAGGCAGCGCAGGCGGAA	0.652000														85			25		0	0	1	0	0
FAM83C	128876	broad.mit.edu	37	20	33879692	33879692	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33879692G>A	uc021wck.1	-	0	534	c.416C>T	c.(415-417)aCa>aTa	p.T139I	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	139										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCTGAAGCCTGTGGCCTGTGG	0.617000														270			65		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399281	90399281	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399281C>T	uc021opq.1	+	0	654	c.654C>T	c.(652-654)tgC>tgT	p.C218C	LRRC8D_uc001dnm.3_Silent_p.C218C|LRRC8D_uc001dnn.3_Silent_p.C218C	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	218						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		AGACAGCATGCGAAGACTCAG	0.443000														71			20		0	0	1	0	0
BRMS1	25855	broad.mit.edu	37	11	66109606	66109606	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66109606G>A	uc001oho.1	-	1	247	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	BRMS1_uc001ohp.1_Missense_Mutation_p.R34W|BRMS1_uc009yre.3_5'Flank	NM_001024957	NP_001020128	Q9HCU9	BRMS1_HUMAN	Homo sapiens breast cancer metastasis suppressor 1 (BRMS1), transcript variant 2, mRNA.	34					apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of anoikis|positive regulation of protein deacetylation|transcription, DNA-dependent	cytoplasm|nucleus	NF-kappaB binding			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						CTGCCGCTCCGCTCCTCCTCA	0.567000														140			12		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103347012	103347012	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103347012C>A	uc001ktg.1	-	0	872	c.106G>T	c.(106-108)Gaa>Taa	p.E36*	DPCD_uc010qpz.2_Intron|POLL_uc001kte.1_5'Flank|POLL_uc001kth.1_Missense_Mutation_p.K19N|POLL_uc001ktj.2_Nonsense_Mutation_p.E36*|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Nonsense_Mutation_p.E36*|POLL_uc001kti.2_Nonsense_Mutation_p.E36*|POLL_uc001ktl.3_Intron|POLL_uc001ktm.3_Nonsense_Mutation_p.E36*|POLL_uc010qqc.2_5'UTR|POLL_uc010qqa.2_Missense_Mutation_p.K19N|POLL_uc010qqd.2_Intron|DPCD_uc001ktn.3_5'Flank	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	36	BRCT.				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		CCTTCTGCTTCTTCTCCCTCT	0.483000								DNA polymerases (catalytic subunits)						186			36		3.2961e-07	3.54613e-07	1	1	0
C5orf45	51149	broad.mit.edu	37	5	179264406	179264406	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179264406G>A	uc003mla.3	-	6	1061	c.1017C>T	c.(1015-1017)ttC>ttT	p.F339F	SQSTM1_uc011dgr.2_3'UTR|SQSTM1_uc011dgs.2_3'UTR|SQSTM1_uc003mkw.4_3'UTR|SQSTM1_uc003mkx.3_3'UTR|C5orf45_uc003mky.2_Intron|C5orf45_uc011dgt.1_Intron|C5orf45_uc011dgu.1_Intron|C5orf45_uc003mlc.3_Silent_p.F284F|C5orf45_uc003mlb.3_Silent_p.F205F|C5orf45_uc021yjh.1_Non-coding_Transcript	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	339										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						CATCATCATCGAAGTCTTCCC	0.512000														361			123		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35707247	35707247	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35707247G>A	uc003zxt.2	-	36	5131	c.4777C>T	c.(4777-4779)Cgg>Tgg	p.R1593W		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1593	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding	p.R1593Q(1)		NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATGGCAGCCCGACCCTGGGGA	0.607000														190			23		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27802900	27802900	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27802900G>A	uc002rkz.4	+	0	3512	c.3461G>A	c.(3460-3462)cGc>cAc	p.R1154H	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1154										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CACCTTGTACGCACTCCTGAA	0.468000														159			56		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238253142	238253142	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238253142G>T	uc002vwl.2	-	35	7804	c.7519C>A	c.(7519-7521)Cta>Ata	p.L2507I	COL6A3_uc002vwo.2_Missense_Mutation_p.L2301I|COL6A3_uc010znj.1_Missense_Mutation_p.L1900I|COL6A3_uc002vwj.2_5'Flank|COL6A3_uc002vwp.1_Missense_Mutation_p.L328I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2507	Nonhelical region.|VWFA 11.				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)		TTCCTCATTAGGAATCCGTTC	0.522000														211			70		1.1794e-34	1.49276e-34	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41990569	41990569	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41990569G>A	uc001cgz.4	-	5	6433	c.5220C>T	c.(5218-5220)aaC>aaT	p.N1740N	HIVEP3_uc001cha.4_Silent_p.N1740N|HIVEP3_uc001cgy.3_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1740					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CATACTCTTCGTTTGATTTGT	0.488000														113			14		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11008344	11008344	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11008344C>T	uc010oao.2	-	11	1848	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	C1orf127_uc001ars.2_Silent_p.T451T|C1orf127_uc001arr.2_Silent_p.T459T	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	467										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		TTCCAGAGCACGTTTCCTGGG	0.652000														242			18		0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083484	7083484	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7083484C>T	uc002mga.3	+	7	1507	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I	ZNF557_uc002mgb.3_Missense_Mutation_p.T334I|ZNF557_uc002mgc.3_Missense_Mutation_p.T341I	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CACATAAGAACTCATACTGGA	0.423000														104			28		0	0	1	0	0
DIAPH3	81624	broad.mit.edu	37	13	60348321	60348321	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:60348321A>C	uc001vht.3	-	27	3538	c.3319_splice	c.e27+1	p.E1107_splice	DIAPH3_uc001vhu.3_Silent_p.G844G	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	1107					actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		ACGGTTTATTACCATGGTTAC	0.313000														40			8		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452051	138452051	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452051T>C	uc003ihe.4	-	0	1579	c.1192A>G	c.(1192-1194)Aag>Gag	p.K398E	PCDH18_uc003ihf.4_Missense_Mutation_p.K391E|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.K178E|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	398	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CCATGAAGCTTACAAACTATT	0.343000														96			20		0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47856540	47856540	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47856540C>T	uc010xyn.2	+	1	602	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	DHX34_uc010elc.1_Nonsense_Mutation_p.Q85*	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	85						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGACCCTGGACAGCCCAAGCA	0.567000														320			15		0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111118398	111118398	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111118398C>T	uc001vqx.3	+	25	2316	c.2027C>T	c.(2026-2028)gCc>gTc	p.A676V		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	676	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)			AGACAGGAGGCCATCCAGCCA	0.493000														131			8		0	0	1	0	0
INO80E	283899	broad.mit.edu	37	16	30007925	30007925	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30007925T>C	uc002dvg.1	+	1	240	c.139T>C	c.(139-141)Tcc>Ccc	p.S47P	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript|HIRIP3_uc002dve.3_5'Flank|HIRIP3_uc002dvf.3_5'Flank|HIRIP3_uc021tgg.1_5'Flank	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	47					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						ACTGAAGGTGTCCCGGGACAA	0.597000														27			3		0	0	1	0	0
FAF1	11124	broad.mit.edu	37	1	50941256	50941256	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:50941256G>A	uc001cse.1	-	17	2202	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Silent_p.G341G	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	583	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CCAAGAACTCGCCACTGGGGG	0.532000														133			10		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2282335	2282335	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2282335C>T	uc002fum.4	+	22	3082	c.2905C>T	c.(2905-2907)Ctg>Ttg	p.L969L	SGSM2_uc002fun.4_Silent_p.L924L|SGSM2_uc010vqw.2_Silent_p.L924L|SGSM2_uc002fuq.3_Silent_p.L86L	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	924						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCAGAACTGCTGTATGAGGA	0.607000														46			10		0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96327938	96327938	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:96327938A>G	uc004efu.4	+	18	2447	c.2051_splice	c.e18-2	p.V684_splice	DIAPH2_uc004eft.4_Splice_Site_p.V684_splice	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	684	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTTTTCTTTCAGTTCAAAAGA	0.338000														29			7		0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29236593	29236593	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:29236593C>T	uc001wqe.3	+	0	307	c.108C>T	c.(106-108)agC>agT	p.S36S		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	36	His-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue 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			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		ACCACGCGAGCCACGGccacc	0.667000														21			8		0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591325	86591325	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86591325C>T	uc001dlj.3	-	2	769	c.694G>A	c.(694-696)Gca>Aca	p.A232T	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.A232T	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	232					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGTAGTCTGCAGATGCTTCT	0.363000														52			19		0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	72897828	72897828	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:72897828T>C	uc003hgg.2	+	0	308	c.210T>C	c.(208-210)agT>agC	p.S70S	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	70					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTGCGAAAAGTAGCTGGAGCC	0.667000														79			15		0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101904853	101904853	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101904853G>A	uc004azc.3	+	4	917	c.841G>A	c.(841-843)Gat>Aat	p.D281N	TGFBR1_uc004azd.3_Missense_Mutation_p.D204N|TGFBR1_uc004aze.3_Missense_Mutation_p.D285N|TGFBR1_uc011lvc.2_Missense_Mutation_p.D212N	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	281	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTGGTGTCAGATTATCATGA	0.408000														147			11		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241666339	241666339	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241666339C>A	uc010fzk.3	-	38	4273	c.4026G>T	c.(4024-4026)gaG>gaT	p.E1342D	KIF1A_uc002vzy.3_Missense_Mutation_p.E1241D|KIF1A_uc002vzz.2_Missense_Mutation_p.E1350D|KIF1A_uc002vzw.3_5'Flank|KIF1A_uc002vzx.3_5'Flank	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1241					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCCACGCAGCCTCAAATTGGT	0.527000														25			5		0.014758	0.0149061	1	1	0
KHDC1	80759	broad.mit.edu	37	6	73951827	73951827	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73951827C>T	uc003pgo.3	-	3	966	c.465G>A	c.(463-465)ctG>ctA	p.L155L	KHDC1_uc011dyl.1_Non-coding_Transcript|KHDC1_uc003pgn.4_Silent_p.L82L	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	155	KH; atypical.					integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						AAAACATGTGCAGCAGCCACT	0.537000														58			14		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72838586	72838586	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72838586C>T	uc002jlt.1	-	12	3846	c.3690G>A	c.(3688-3690)gaG>gaA	p.E1230E	GRIN2C_uc010wrh.1_Non-coding_Transcript	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	1230					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACACTTCTGACTCCAGACTGG	0.607000														91			10		0	0	1	0	0
CDH15	1013	broad.mit.edu	37	16	89256843	89256843	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89256843G>T	uc002fmt.3	+	7	1248	c.1171G>T	c.(1171-1173)Ggc>Tgc	p.G391C		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	391	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGCACCCCCAGGCACTCTGGT	0.672000														32			10		7.48243e-07	8.00842e-07	1	1	0
RCBTB1	55213	broad.mit.edu	37	13	50141409	50141409	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50141409C>T	uc001vde.1	-	2	268	c.7G>A	c.(7-9)Gat>Aat	p.D3N		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	3					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)		TTTCCGACATCCACCATGACT	0.468000														105			15		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5564829	5564829	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:5564829T>C	uc003gij.3	-	21	3727	c.3673A>G	c.(3673-3675)Aca>Gca	p.T1225A	EVC2_uc003gik.3_Missense_Mutation_p.T1145A|EVC2_uc011bwb.2_Missense_Mutation_p.T665A	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1225						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGGAGACATGTCTTCTTTAAT	0.443000														194			53		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136575093	136575093	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136575093C>A	uc002tuu.1	-	5	1536	c.1525G>T	c.(1525-1527)Gga>Tga	p.G509*		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	509	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCTGCCATCCACCATGATCC	0.577000														121			21		1.96292e-10	2.20843e-10	1	1	0
DMPK	1760	broad.mit.edu	37	19	46281893	46281893	+	Missense_Mutation	SNP	C	A	A	rs145501208	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46281893C>A	uc002pdi.1	-	5	703	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	DMPK_uc010xxs.1_Missense_Mutation_p.V58F|DMPK_uc002pdd.1_Missense_Mutation_p.V157F|DMPK_uc002pde.1_Missense_Mutation_p.V157F|DMPK_uc002pdg.1_Missense_Mutation_p.V147F|DMPK_uc002pdf.1_Missense_Mutation_p.V147F|DMPK_uc002pdh.1_Missense_Mutation_p.V147F|DMPK_uc010xxt.1_Missense_Mutation_p.V147F|DMPK_uc010xxu.1_3'UTR	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	157	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		TACTCCATGACCAGGTACTGA	0.607000														66			15		0.11911	0.119489	1	1	0
GZF1	64412	broad.mit.edu	37	20	23345726	23345726	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23345726C>T	uc010gdb.3	+	2	880	c.706C>T	c.(706-708)Cct>Tct	p.P236S	GZF1_uc002wsy.3_Missense_Mutation_p.P236S|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.P236S	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	236					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TGTGGAGATCCCTAAAAAGAA	0.507000														112			14		0	0	1	0	0
KRT27	342574	broad.mit.edu	37	17	38933853	38933853	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38933853C>A	uc002hvg.3	-	5	1145	c.1104G>T	c.(1102-1104)aaG>aaT	p.K368N		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	368	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CATACTCGAGCTTCTGGCCCT	0.557000														384			35		8.73648e-17	1.04385e-16	1	1	0
LPAR5	57121	broad.mit.edu	37	12	6729583	6729583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6729583C>T	uc009zer.2	-	1	1113	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	LPAR5_uc001qps.2_Missense_Mutation_p.V278M|LPAR5_uc010sff.1_Missense_Mutation_p.V278M|LPAR5_uc021qub.1_Missense_Mutation_p.V278M	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	278						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACCATCAGCACCCCGCGCACG	0.692000														41			8		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98422056	98422056	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98422056T>C	uc002syh.4	-	19	2395	c.2166A>G	c.(2164-2166)ttA>ttG	p.L722L		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	722						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATTGCCCCGTAATCGTTTAT	0.323000														214			71		0	0	1	0	0
BRWD3	254065	broad.mit.edu	37	X	79945476	79945476	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79945476G>A	uc004edt.3	-	31	3981	c.3718C>T	c.(3718-3720)Cga>Tga	p.R1240*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.R1069*|BRWD3_uc004edq.3_Nonsense_Mutation_p.R836*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.R836*|BRWD3_uc004edr.3_Nonsense_Mutation_p.R910*|BRWD3_uc004eds.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edo.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edu.3_Nonsense_Mutation_p.R910*|BRWD3_uc004edv.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edw.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edx.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edy.3_Nonsense_Mutation_p.R836*|BRWD3_uc004edz.3_Nonsense_Mutation_p.R910*|BRWD3_uc004eea.3_Nonsense_Mutation_p.R910*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.R836*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1240								p.R1240*(2)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCAATAAATCGAAGTAAGACA	0.299000														27			10		0	0	1	0	0
RPE	6120	broad.mit.edu	37	2	210882204	210882204	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210882204G>T	uc002vdn.3	+	4	519	c.485G>T	c.(484-486)tGg>tTg	p.W162L	RPE_uc002vdo.3_Missense_Mutation_p.W112L|RPE_uc002vdp.3_Missense_Mutation_p.W109L|RPE_uc010zjf.2_Intron|RPE_uc010fup.3_Missense_Mutation_p.W94L|RPE_uc002vdq.3_Missense_Mutation_p.W112L|RPE_uc002vdr.3_Missense_Mutation_p.W77L	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.	162					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TAGGTTCACTGGTTGAGGACC	0.453000														107			26		4.59853e-10	5.14677e-10	1	1	0
RAD54L	8438	broad.mit.edu	37	1	46739361	46739361	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46739361C>T	uc001cpl.2	+	13	2263	c.1552C>T	c.(1552-1554)Ctg>Ttg	p.L518L	RAD54L_uc009vye.2_Silent_p.L518L	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	518	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CAAAGTAGTGCTGGTGTCGAA	0.537000								Direct reversal of damage;Homologous recombination						43			6		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79181033	79181033	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79181033C>T	uc002jzp.1	-	3	479	c.279G>A	c.(277-279)acG>acA	p.T93T	AZI1_uc002jzn.1_Silent_p.T93T|AZI1_uc002jzo.1_Silent_p.T93T|AZI1_uc010wum.1_Silent_p.T93T	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	93					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGTGGGCTCCGTTGGCCTGC	0.647000														80			23		0	0	1	0	0
LCORL	254251	broad.mit.edu	37	4	17963615	17963615	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17963615G>A	uc021xmr.1	-	3	450	c.341C>T	c.(340-342)aCa>aTa	p.T114I	LCORL_uc021xmq.1_Missense_Mutation_p.T30I|LCORL_uc003gpq.3_Missense_Mutation_p.T114I|LCORL_uc011bxk.2_Missense_Mutation_p.T27I	NM_001166139	NP_001159611	Q8N3X6	LCORL_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor-like (LCORL), transcript variant 1, mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TAGCTCCTCTGTTGGTGTTGA	0.348000														54			11		0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31669446	31669446	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31669446T>C	uc003akh.3	+	13	1712	c.1567T>C	c.(1567-1569)Tat>Cat	p.Y523H	LIMK2_uc003aki.3_Missense_Mutation_p.Y277H|LIMK2_uc003akj.3_Missense_Mutation_p.Y502H|LIMK2_uc003akk.3_Missense_Mutation_p.Y502H|LIMK2_uc011aln.2_Missense_Mutation_p.Y440H	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	523	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAAAGAGCTATGATGAGAC	0.532000											OREG0026477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			19		0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63307081	63307081	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63307081C>A	uc001nxf.4	+	1	171	c.103C>A	c.(103-105)Cat>Aat	p.H35N		NM_004585	NP_004576	Q9UL19	TIG3_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 3 (RARRES3), mRNA.	35					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						CTACGTGATCCATCTGGCTCC	0.473000														136			33		7.65355e-07	8.19117e-07	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186024739	186024739	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186024739C>T	uc001grq.1	+	44	7306	c.7077C>T	c.(7075-7077)ggC>ggT	p.G2359G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2359	Ig-like C2-type 21.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACAGGCCGTTATGTGT	0.428000														130			38		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043397	51043397	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51043397G>A	uc003bmx.3	+	5	1784	c.1667G>A	c.(1666-1668)gGt>gAt	p.G556D	MAPK8IP2_uc003bmy.3_Missense_Mutation_p.G529D|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	557					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTAGGCGGCGGTCAGGTCTCG	0.672000														105			28		0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65111378	65111378	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65111378C>T	uc002ant.2	-	8	1444	c.1378G>A	c.(1378-1380)Gcc>Acc	p.A460T	PIF1_uc002anr.2_Missense_Mutation_p.A8T|PIF1_uc002ans.2_Missense_Mutation_p.A151T|PIF1_uc010uiq.1_Missense_Mutation_p.A460T	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	460	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						AGGGTACTGGCCAGCTCAGGG	0.542000														62			4		0	0	1	0	0
TSPAN4	7106	broad.mit.edu	37	11	862729	862729	+	Nonsense_Mutation	SNP	C	A	A	rs144548229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:862729C>A	uc001lsd.1	+	3	452	c.243C>A	c.(241-243)tgC>tgA	p.C81*	TSPAN4_uc001lse.1_Nonsense_Mutation_p.C17*|TSPAN4_uc001lsf.1_Nonsense_Mutation_p.C81*|TSPAN4_uc001lsg.1_Nonsense_Mutation_p.C81*|TSPAN4_uc001lsh.1_Nonsense_Mutation_p.C81*|TSPAN4_uc001lsi.1_Nonsense_Mutation_p.C81*|TSPAN4_uc001lsj.1_Nonsense_Mutation_p.C81*	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	81					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAACAAGTGCCTCCTGCTCA	0.672000														71			20		3.73194e-20	4.55228e-20	1	1	0
CSNK2A1	1457	broad.mit.edu	37	11	11373731	11373731	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:11373731C>A	uc001mjp.3	-	0	1174	c.936G>T	c.(934-936)cgG>cgT	p.R312R	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	312	Protein kinase.				Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTGCAGTAAGCCGTGACTGGT	0.547000														136			23		4.7796e-09	5.27959e-09	1	1	0
RAB36	9609	broad.mit.edu	37	22	23495220	23495220	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23495220G>A	uc002zwv.1	+	5	466	c.426_splice	c.e5-1	p.R142_splice	RAB36_uc010gtw.1_Splice_Site_p.G120_splice	NM_004914	NP_004905	O95755	RAB36_HUMAN	Homo sapiens RAB36, member RAS oncogene family (RAB36), mRNA.	142					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCCCCCACAGGTTTTGCAAGA	0.478000														127			41		0	0	1	0	0
LRRC18	474354	broad.mit.edu	37	10	50122110	50122110	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50122110G>A	uc001jhd.3	-	0	171	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R31C	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478000														91			12		0	0	1	0	0
SLC7A1	6541	broad.mit.edu	37	13	30104741	30104741	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:30104741G>A	uc001uso.3	-	4	1025	c.638C>T	c.(637-639)tCg>tTg	p.S213L		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	213					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTTAACCGATCCTTTCAC	0.448000														180			30		0	0	1	0	0
C17orf67	339210	broad.mit.edu	37	17	54893177	54893177	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54893177C>A	uc010dci.3	-	0	195	c.67G>T	c.(67-69)Ggc>Tgc	p.G23C	C17orf67_uc002iuq.3_Non-coding_Transcript	NM_001085430	NP_001078899	Q0P5P2	CQ067_HUMAN	Homo sapiens chromosome 17 open reading frame 67 (C17orf67), mRNA.	23						extracellular region				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	7	Breast(9;2.49e-06)					TTCATCCTGCCTTGGTTCCTC	0.507000														47			19		1.00905e-13	1.17906e-13	1	1	0
INTS5	80789	broad.mit.edu	37	11	62416125	62416125	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62416125G>A	uc001nud.3	-	1	1480	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	476					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GTTTTTGAGCGCATCTAAAAA	0.587000														272			60		0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	62259478	62259478	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:62259478C>T	uc003dlb.3	+	22	4143	c.3424C>T	c.(3424-3426)Cca>Tca	p.P1142S	PTPRG_uc003dlc.3_Missense_Mutation_p.P1113S|PTPRG_uc011bfi.2_Missense_Mutation_p.P388S|LOC100506994_uc003dld.4_Intron|LOC100506994_uc010hnp.3_Intron|LOC100506994_uc003dle.4_Intron|LOC100506994_uc010hno.3_Intron	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	1142					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CATCCTTATACCAGGAGTAGG	0.393000														105			22		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78647147	78647147	+	Silent	SNP	C	T	T	rs75138661		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78647147C>T	uc001jxn.3	-	27	3765	c.3588G>A	c.(3586-3588)tcG>tcA	p.S1196S	KCNMA1_uc021ptu.1_Silent_p.S1088S|KCNMA1_uc001jxj.2_Silent_p.S1142S|KCNMA1_uc001jxk.1_Silent_p.S814S|KCNMA1_uc009xrt.1_Silent_p.S987S|KCNMA1_uc001jxl.1_Silent_p.S821S|KCNMA1_uc001jxo.3_Silent_p.S1179S|KCNMA1_uc001jxm.3_Silent_p.S1138S|KCNMA1_uc001jxq.3_Silent_p.S1168S|BC030624_uc001jxp.3_5'Flank	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1196					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TGGAGGACTGCGACGAGTGGG	0.582000														151			40		0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34482810	34482810	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34482810G>A	uc001mvm.3	+	8	1158	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	CAT_uc009ykc.1_Non-coding_Transcript	NM_001752	NP_001743	P04040	CATA_HUMAN	Homo sapiens catalase (CAT), mRNA.	357					UV protection|hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process	peroxisomal matrix|peroxisomal membrane	NADP binding|catalase activity|heme binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CCGCCTTTTTGCCTATCCTGA	0.473000														213			31		0	0	1	0	0
CDK5RAP2	55755	broad.mit.edu	37	9	123253655	123253655	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123253655T>G	uc004bkf.3	-	12	1593	c.1412A>C	c.(1411-1413)aAa>aCa	p.K471T	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.K471T|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.K471T|CDK5RAP2_uc004bki.3_Missense_Mutation_p.K270T	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	471					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						ATTGTGCAATTTTTTATTGCT	0.323000														45			13		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103441551	103441551	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103441551G>A	uc001vpq.4	-	6	1488	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	KDELC1_uc001vpr.4_Silent_p.I149I	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	368						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTGCCATCGATATTTATTT	0.393000														96			12		0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	31942888	31942888	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31942888A>C	uc003ale.3	+	4	773	c.380A>C	c.(379-381)gAa>gCa	p.E127A	SFI1_uc003ald.1_Missense_Mutation_p.E103A|SFI1_uc003alf.3_Missense_Mutation_p.E127A|SFI1_uc003alg.3_Missense_Mutation_p.E45A|SFI1_uc011alp.2_Missense_Mutation_p.E45A|SFI1_uc011alq.2_Missense_Mutation_p.E103A|SFI1_uc003alh.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	127	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GTCTTCGAAGAATGGAAAGAG	0.413000														158			32		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545622	179545622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179545622C>T	uc003mlq.3	-	8	1367	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N	RASGEF1C_uc003mlr.3_Missense_Mutation_p.S357N|RASGEF1C_uc003mlp.4_Missense_Mutation_p.S206N	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	357	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCTCGGCTGCTGTGGGCCGT	0.672000														225			46		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105660870	105660870	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105660870A>G	uc003vdl.4	+	12	1813	c.1705A>G	c.(1705-1707)Aac>Gac	p.N569D	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.N556D|CDHR3_uc011klt.2_Missense_Mutation_p.N481D|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	569	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TTGTACTCCAAACTCTTATTT	0.408000														65			10		0	0	1	0	0
XRCC1	7515	broad.mit.edu	37	19	44056975	44056975	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44056975G>A	uc002owt.2	-	7	917	c.797C>T	c.(796-798)tCg>tTg	p.S266L	XRCC1_uc010xwp.1_Missense_Mutation_p.S235L	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	266					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AACAGATGGCGACAGCTGGGC	0.562000								Other BER factors						76			14		0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45209005	45209005	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45209005G>T	uc010xxd.2	+	4	1013	c.807G>T	c.(805-807)caG>caT	p.Q269H		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	269										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCAACGGGCAGGCCCTAAAGA	0.572000														95			27		2.79863e-10	3.14589e-10	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23198655C>T	uc003xdh.1	-	3	932	c.593G>A	c.(592-594)cGc>cAc	p.R198H	LOC100507156_uc003xdj.3_Non-coding_Transcript	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	198	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CACTGGGGTGCGCTTGCGGTA	0.572000														229			41		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176004468	176004468	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176004468G>T	uc021yie.1	+	12	1537	c.1263G>T	c.(1261-1263)gaG>gaT	p.E421D	CDHR2_uc003mem.2_Missense_Mutation_p.E421D|CDHR2_uc003men.1_Missense_Mutation_p.E421D	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	421	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCCCCGGAGCGGGCAGTGG	0.652000														43			16		0.00316338	0.00321995	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76869383	76869383	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76869383G>A	uc001oyb.2	+	8	1182	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	MYO7A_uc010rsl.2_Missense_Mutation_p.A304T|MYO7A_uc010rsm.1_Missense_Mutation_p.A293T|MYO7A_uc001oyc.2_Missense_Mutation_p.A304T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	304	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCGCTCCGCCATGAAGGT	0.612000														67			16		0	0	1	0	0
MCHR1	2847	broad.mit.edu	37	22	41076968	41076968	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41076968C>T	uc003ayz.3	+	1	573	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MCHR1_uc003aza.3_5'UTR	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	102					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CCTCCTCGCACGGGGAGCATC	0.577000														135			25		0	0	1	0	0
C16orf72	29035	broad.mit.edu	37	16	9196949	9196949	+	Missense_Mutation	SNP	G	A	A	rs146827336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9196949G>A	uc002czm.3	+	2	781	c.416G>A	c.(415-417)cGt>cAt	p.R139H		NM_014117	NP_054836	Q14CZ0	CP072_HUMAN	Homo sapiens chromosome 16 open reading frame 72 (C16orf72), mRNA.	139										endometrium(4)|large_intestine(2)|lung(2)	8						AGAACTATTCGTCGAGAAGAT	0.453000														84			22		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190728551	190728551	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190728551C>T	uc002urh.4	+	9	2468	c.1939C>T	c.(1939-1941)Cta>Tta	p.L647L	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Silent_p.L586L|PMS1_uc002urk.4_Silent_p.L608L|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Silent_p.L471L|PMS1_uc010zgd.2_Silent_p.L471L|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Silent_p.L608L|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Silent_p.L315L	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	647					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAAATGTCACTAAAAGATGG	0.358000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						124			40		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140788005	140788005	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140788005C>T	uc003lkj.2	+	0	236	c.236C>T	c.(235-237)gCg>gTg	p.A79V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.A79V	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	79	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGTAGACGCGGAGAGCGGG	0.532000														185			48		0	0	1	0	0
ACTA2	59	broad.mit.edu	37	10	90699290	90699290	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90699290T>A	uc001kfp.3	-	6	898	c.782A>T	c.(781-783)gAg>gTg	p.E261V	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E216V|ACTA2_uc001kfq.3_Missense_Mutation_p.E261V|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	261					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GAACAGGGTCTCTGGGCAGCG	0.532000														153			30		0	0	1	0	0
CLIC6	54102	broad.mit.edu	37	21	36088748	36088748	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:36088748G>A	uc010gmt.1	+	6	2083	c.2083G>A	c.(2083-2085)Gca>Aca	p.A695T	CLIC6_uc002yuf.1_Missense_Mutation_p.A677T	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	695	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GATTGAACACGCATATTCAGA	0.378000														58			24		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6592149	6592149	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6592149G>A	uc001mdw.4	+	41	13971	c.13407G>A	c.(13405-13407)ccG>ccA	p.P4469P	DNHD1_uc001mea.4_Silent_p.P738P|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Silent_p.P737P|DNHD1_uc010rao.2_Silent_p.P727P|DNHD1_uc009yfg.3_Silent_p.P94P	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4469					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCGACGCCCCGTGGTCAGTGC	0.627000														139			29		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15330414	15330414	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15330414A>C	uc002rcc.1	-	48	6572	c.6546T>G	c.(6544-6546)gcT>gcG	p.A2182A	NBAS_uc002rcb.1_Silent_p.A22A|NBAS_uc010exl.1_Silent_p.A1254A|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	2182										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAGGTGGCCAAGCTTGCAAAA	0.378000														79			18		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416977	107416977	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416977C>A	uc003ver.2	-	14	1808	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.E498*	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(2)|p.P532Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378000														64			7		0.0293803	0.0295844	1	1	0
C19orf55	148137	broad.mit.edu	37	19	36253018	36253018	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36253018C>A	uc021usz.1	+	3	483	c.410C>A	c.(409-411)tCt>tAt	p.S137Y	C19orf55_uc002obo.1_Missense_Mutation_p.S137Y|C19orf55_uc002obp.3_Missense_Mutation_p.S137Y	NM_001039887	NP_001034976	Q2NL68	CS055_HUMAN	Homo sapiens chromosome 19 open reading frame 55 (C19orf55), mRNA.	137										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGTCTGACTCTCCAGACCCC	0.582000														68			11		4.68919e-08	5.11014e-08	1	1	0
WDSUB1	151525	broad.mit.edu	37	2	160112844	160112844	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160112844C>T	uc002uaj.4	-	8	1144	c.995G>A	c.(994-996)tGg>tAg	p.W332*	WDSUB1_uc002uak.4_Nonsense_Mutation_p.W332*|WDSUB1_uc002ual.4_Nonsense_Mutation_p.W332*|WDSUB1_uc010foo.3_Nonsense_Mutation_p.W240*	NM_152528	NP_689741	Q8N9V3	WSDU1_HUMAN	Homo sapiens WD repeat, sterile alpha motif and U-box domain containing 1 (WDSUB1), transcript variant 3, mRNA.	332	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						CTCCTCTGACCAATCTTCGGT	0.333000														82			16		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67029942	67029942	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67029942C>T	uc002jhu.3	-	8	1344	c.1201G>A	c.(1201-1203)Gct>Act	p.A401T	ABCA9_uc010dez.3_Missense_Mutation_p.A401T	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	401					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAAGAGTAGCTATTATGAGG	0.323000														113			18		0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160432	2160432	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160432T>C	uc001aja.4	+	0	299	c.227T>C	c.(226-228)cTg>cCg	p.L76P		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	76					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GTGCTGCACCTGCCCGCCATC	0.761000														21			4		0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951676	30951676	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30951676G>A	uc003aig.1	-	3	676	c.536C>T	c.(535-537)cCg>cTg	p.P179L	GAL3ST1_uc003aih.1_Missense_Mutation_p.P179L|GAL3ST1_uc003aii.1_Missense_Mutation_p.P179L|GAL3ST1_uc010gvz.1_Missense_Mutation_p.P179L	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	179					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GGGCACCACCGGCCCGAAGTA	0.652000														225			57		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55094363	55094363	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55094363A>C	uc003jqg.4	+	17	1678	c.1579A>C	c.(1579-1581)Aaa>Caa	p.K527Q	DDX4_uc010ivz.3_Missense_Mutation_p.K507Q|DDX4_uc003jqh.4_Missense_Mutation_p.K493Q|DDX4_uc003jqj.3_Missense_Mutation_p.K378Q	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	527					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAGTTCTCAAAAAGAGAAAA	0.333000														126			21		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136495	104136495	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104136495C>A	uc001kux.2	+	31	4517	c.4223C>A	c.(4222-4224)cCt>cAt	p.P1408H	GBF1_uc001kuy.2_Missense_Mutation_p.P1408H|GBF1_uc001kuz.2_Missense_Mutation_p.P1409H	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1408					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CACATCACACCTGACAACTTT	0.552000														147			31		1.75199e-13	2.04201e-13	1	1	0
KIAA0564	23078	broad.mit.edu	37	13	42149881	42149881	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:42149881G>T	uc001uyj.3	-	42	5435	c.5365C>A	c.(5365-5367)Ctg>Atg	p.L1789M		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1789	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTTACCTTCAGAATTTCTAGT	0.373000														44			5		5.9392e-07	6.36579e-07	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33373714	33373714	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33373714G>A	uc001mul.1	+	15	3344	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	HIPK3_uc001mum.1_Missense_Mutation_p.R1004Q|HIPK3_uc009yjv.1_Missense_Mutation_p.R1004Q	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1025					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						ATAAAAGGACGATCTGCCCCT	0.378000														193			42		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103440220	103440220	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103440220G>A	uc001vpq.4	-	7	1731	c.1347C>T	c.(1345-1347)ggC>ggT	p.G449G	KDELC1_uc001vpr.4_Silent_p.G230G	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	449						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATATGTCATCGCCCATGAGAT	0.323000														64			7		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62290929	62290929	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62290929G>T	uc001ntl.3	-	4	11260	c.10960C>A	c.(10960-10962)Ctg>Atg	p.L3654M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3654					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCCTTCAGCTTTGCATCT	0.473000														420			112		2.15005e-58	2.74656e-58	1	1	0
FAM169B	283777	broad.mit.edu	37	15	99023964	99023964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99023964C>T	uc002buk.1	-	3	299	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	17										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAATAATGGCGTTTAGAATG	0.383000														68			17		0	0	1	0	0
NCBP2	22916	broad.mit.edu	37	3	196666195	196666195	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196666195T>G	uc003fxd.1	-	1	277	c.187A>C	c.(187-189)Agt>Cgt	p.S63R	NCBP2_uc003fxb.1_5'UTR|NCBP2_uc011btz.1_Missense_Mutation_p.S45R|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Intron|NCBP2_uc003fxf.3_Missense_Mutation_p.S63R	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.	63	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	RNA 7-methylguanosine cap binding|nucleotide binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		ATGTCACCACTTTTGCTGAAG	0.338000														87			18		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3317942	3317942	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3317942G>A	uc003ggw.3	+	1	949	c.45G>A	c.(43-45)ccG>ccA	p.P15P	RGS12_uc003ggu.2_Silent_p.P15P|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.P15P|RGS12_uc003ggx.1_Silent_p.P15P	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	15						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCTGGGCCGTCGCCCCCAA	0.602000														310			64		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762906	181762906	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181762906C>T	uc009wxt.3	+	44	6199	c.6004C>T	c.(6004-6006)Cca>Tca	p.P2002S	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2002					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATCTTCTATGCCACGTCTGAC	0.483000														33			8		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66864494	66864494	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66864494T>G	uc002jhq.3	-	38	5055	c.4715A>C	c.(4714-4716)aAa>aCa	p.K1572T	ABCA8_uc002jhp.3_Missense_Mutation_p.K1532T|ABCA8_uc010wqq.2_Missense_Mutation_p.K1567T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1532						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAGCTCTGTTTAACTGCATA	0.348000														76			19		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92760879	92760879	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92760879G>A	uc003umh.1	-	4	5622	c.4406C>T	c.(4405-4407)tCc>tTc	p.S1469F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1469F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1469F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1469F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1469F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1469F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1469F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1469F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1469										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGCCTGCTTGGACCTGCACAT	0.398000														234			76		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139091657	139091657	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139091657C>A	uc004cgz.3	-	2	455	c.336G>T	c.(334-336)caG>caT	p.Q112H	LHX3_uc022bpm.1_Nonsense_Mutation_p.G129*|LHX3_uc004cha.3_Missense_Mutation_p.Q107H	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	107	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		ACACGAAGTCCTGGGCGCGGC	0.706000														57			8		0.00307968	0.00313564	1	1	0
ST14	6768	broad.mit.edu	37	11	130068436	130068436	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130068436G>T	uc001qfw.3	+	13	1797	c.1604G>T	c.(1603-1605)gGg>gTg	p.G535V		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	535	LDL-receptor class A 3.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGTTCCAATGGGAAGTGCCTC	0.672000														134			8		0.0381472	0.038366	1	1	0
TRAF4	9618	broad.mit.edu	37	17	27076400	27076400	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27076400G>A	uc002hcs.3	+	6	1326	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	406	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACGTCACTGAGACCTTCCACC	0.577000														111			28		0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702377	37702377	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702377G>A	uc003xkk.3	-	3	1021	c.891C>T	c.(889-891)atC>atT	p.I297I		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	297					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GAAGGTCACCGATGTGCTTCA	0.627000														138			42		0	0	1	0	0
PRR14	78994	broad.mit.edu	37	16	30666370	30666370	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30666370G>A	uc002dyy.3	+	7	1337	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	PRR14_uc002dyz.3_Missense_Mutation_p.R205Q|PRR14_uc002dza.3_Missense_Mutation_p.R360Q|PRR14_uc002dzb.1_Missense_Mutation_p.R174Q	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	360	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCACGGCCGCGGCGGCACACT	0.701000														170			43		0	0	1	0	0
FAM208A	23272	broad.mit.edu	37	3	56667861	56667861	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:56667861C>A	uc003did.4	-	16	2876	c.2775G>T	c.(2773-2775)aaG>aaT	p.K925N	FAM208A_uc003dib.4_Missense_Mutation_p.K44N|FAM208A_uc003dic.4_Missense_Mutation_p.K549N|FAM208A_uc003die.4_Missense_Mutation_p.K986N	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	Homo sapiens family with sequence similarity 208, member A (FAM208A), transcript variant 2, mRNA.	925										NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						CAGTGGTGCCCTTTAGTGTGT	0.537000														44			14		1.05317e-09	1.17384e-09	1	1	0
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165809938C>T	uc003qun.3	-	14	1504	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R350K|PDE10A_uc003quo.3_Missense_Mutation_p.R430K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	420					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R420K(2)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GTGGCGAATTCTATGATACAT	0.373000														139			21		0	0	1	0	0
GPR75-ASB3	100302652	broad.mit.edu	37	2	53977992	53977992	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:53977992C>T	uc002rxi.4	-	2	502	c.397G>A	c.(397-399)Gta>Ata	p.V133I	GPR75-ASB3_uc021vhl.1_Missense_Mutation_p.V22I|GPR75-ASB3_uc002rxg.2_Missense_Mutation_p.V95I|GPR75-ASB3_uc002rxh.2_Missense_Mutation_p.V22I|GPR75-ASB3_uc010yoo.2_Missense_Mutation_p.V95I	NM_001164165	NP_665862	Q2TAI4	Q2TAI4_HUMAN	Homo sapiens GPR75-ASB3 readthrough (GPR75-ASB3), mRNA.	130					intracellular signal transduction												AGAATCTGTACGATTTTCCAA	0.393000														96			21		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143772016	143772016	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143772016A>C	uc011ktx.2	+	0	704	c.704A>C	c.(703-705)aAa>aCa	p.K235T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GGGTGCCAGAAAGCCTTCTCC	0.493000														161			32		0	0	1	0	0
MIXL1	83881	broad.mit.edu	37	1	226413401	226413401	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226413401A>G	uc010pvm.2	+	1	587	c.587A>G	c.(586-588)gAc>gGc	p.D196G		NM_031944	NP_114150	Q9H2W2	MIXL1_HUMAN	Homo sapiens Mix paired-like homeobox (MIXL1), mRNA.	196					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.109)		GGCATCTCTGACTCTAGCTCC	0.512000														159			68		0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40223778	40223778	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40223778C>T	uc003cka.3	+	8	1076	c.941C>T	c.(940-942)tCg>tTg	p.S314L	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S314L|MYRIP_uc010hhw.3_Missense_Mutation_p.S225L|MYRIP_uc011ayz.2_Missense_Mutation_p.S127L|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	314	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GAGGCTCCATCGAGGCAGCCA	0.562000														158			36		0	0	1	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504454	151504454	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:151504454C>T	uc003ilw.3	+	0	1378	c.273C>T	c.(271-273)gaC>gaT	p.D91D	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	91					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TCGTGGACGACGGCTCGCTGC	0.602000														180			38		0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128385	83128385	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:83128385T>G	uc004eei.1	+	3	690	c.669T>G	c.(667-669)gaT>gaG	p.D223E	CYLC1_uc004eeh.1_Missense_Mutation_p.D222E	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	223					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAAGAAAGATTTGAAGAGGT	0.328000														24			7		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197396679	197396679	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197396679T>C	uc001gtz.3	+	6	2433	c.2224T>C	c.(2224-2226)Ttt>Ctt	p.F742L	CRB1_uc010poz.2_Missense_Mutation_p.F673L|CRB1_uc009wza.3_Missense_Mutation_p.F630L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Missense_Mutation_p.F223L|CRB1_uc001gub.1_Missense_Mutation_p.F391L	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	742	Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCTCTCCATGTTTGTCCGAAC	0.473000														70			21		0	0	1	0	0
LZTS1	11178	broad.mit.edu	37	8	20110415	20110415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20110415G>A	uc003wzr.3	-	1	1138	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	LZTS1_uc010ltg.2_Missense_Mutation_p.R343W	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	Homo sapiens leucine zipper, putative tumor suppressor 1 (LZTS1), mRNA.	343					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	Golgi apparatus|cell junction|dendritic spine|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CGGAGCTGCCGCTTCTCCTGC	0.647000														112			21		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145008523	145008523	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145008523G>T	uc003zaf.1	-	10	1713	c.1543C>A	c.(1543-1545)Ctg>Atg	p.L515M	PLEC_uc003zab.1_Missense_Mutation_p.L378M|PLEC_uc003zac.1_Missense_Mutation_p.L382M|PLEC_uc003zad.2_Missense_Mutation_p.L378M|PLEC_uc003zae.1_Missense_Mutation_p.L346M|PLEC_uc003zag.1_Missense_Mutation_p.L356M|PLEC_uc003zah.2_Missense_Mutation_p.L364M|PLEC_uc003zaj.2_Missense_Mutation_p.L405M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	515	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCGCTCCAGGATGGCCACG	0.652000														136			23		3.28513e-13	3.82035e-13	1	1	0
TGFBI	7045	broad.mit.edu	37	5	135383056	135383056	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:135383056A>G	uc003lbf.4	+	5	879	c.718A>G	c.(718-720)Acc>Gcc	p.T240A	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_Missense_Mutation_p.T66A|TGFBI_uc011cyb.2_Missense_Mutation_p.T66A	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	240	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACCATCACCAACAACAT	0.562000														365			77		0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29393844	29393844	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:29393844G>A	uc001zck.3	+	8	1585	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	APBA2_uc010azj.2_Missense_Mutation_p.A449T|APBA2_uc010uat.2_Missense_Mutation_p.A449T|APBA2_uc001zcl.3_Missense_Mutation_p.A449T|APBA2_uc001zcm.1_Missense_Mutation_p.A153T	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	461	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CTCCTACATCGCCGACATTGG	0.587000														50			10		0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33200284	33200284	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33200284T>C	uc010edf.3	+	1	908	c.908T>C	c.(907-909)gTc>gCc	p.V303A		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	303						mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GATGGGATGGTCCATCTTTTA	0.473000														129			23		0	0	1	0	0
ZW10	9183	broad.mit.edu	37	11	113610060	113610060	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113610060T>G	uc001poe.3	-	11	1725	c.1628A>C	c.(1627-1629)aAc>aCc	p.N543T	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	543					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CATACAGTTGTTGTGATGAAT	0.488000														124			23		0	0	1	0	0
VPS37D	155382	broad.mit.edu	37	7	73085532	73085532	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73085532G>A	uc003tyr.3	+	3	697	c.582G>A	c.(580-582)ccG>ccA	p.P194P		NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA.	194					cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AATCCTTCCCGGCTGCAGCTG	0.736000														32			4		0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822318	1822318	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1822318C>A	uc002cmo.3	-	2	581	c.561G>T	c.(559-561)gaG>gaT	p.E187D	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	187						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCATGGGCTCCTCGGTGCTTG	0.592000														199			49		1.00953e-15	1.19797e-15	1	1	0
SEC31B	25956	broad.mit.edu	37	10	102265204	102265204	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102265204G>A	uc001krc.1	-	9	1195	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	SEC31B_uc010qpo.1_Missense_Mutation_p.P364S|SEC31B_uc001krd.1_5'UTR|SEC31B_uc001krf.1_5'UTR|SEC31B_uc001kre.1_5'UTR|SEC31B_uc001krg.1_5'UTR|SEC31B_uc010qpp.1_3'UTR|SEC31B_uc009xwn.1_3'UTR|SEC31B_uc009xwo.1_3'UTR|SEC31B_uc010qpq.1_3'UTR	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	365					protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTTGCTCTGGCACCTGCAGT	0.517000														253			54		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117392003	117392003	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117392003G>A	uc001prh.1	-	5	1237	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	DSCAML1_uc001pri.1_Missense_Mutation_p.T216M	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	352	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CACCAGCTCCGTGTTGCGATA	0.627000														226			57		0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807727	15807727	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15807727C>T	uc002nbl.3	+	12	1526	c.1407C>T	c.(1405-1407)atC>atT	p.I469I		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GGAACTGCATCGGGCAGGCGT	0.637000														69			17		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245849753	245849753	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245849753G>A	uc001ibf.1	+	11	3908	c.3468G>A	c.(3466-3468)caG>caA	p.Q1156Q	KIF26B_uc001ibg.1_Silent_p.Q774Q|KIF26B_uc001ibh.1_Silent_p.Q398Q	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1156					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATGATGAGCAGCAGGCAGCTA	0.577000														228			44		0	0	1	0	0
TSSK2	23617	broad.mit.edu	37	22	19119450	19119450	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19119450G>A	uc002zow.2	+	0	1130	c.538G>A	c.(538-540)Gca>Aca	p.A180T	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	180	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CGGGTCGGCAGCATATGCAGC	0.592000														275			24		0	0	1	0	0
NKAPL	222698	broad.mit.edu	37	6	28228254	28228254	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28228254C>A	uc003nkt.3	+	0	1157	c.1105C>A	c.(1105-1107)Ctt>Att	p.L369I	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	369										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAAGAGAGCTCTTGCATCCTT	0.443000														123			25		1.10923e-09	1.2355e-09	1	1	0
FOCAD	54914	broad.mit.edu	37	9	20781887	20781887	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781887G>A	uc003zog.1	+	11	1519	c.1156G>A	c.(1156-1158)Gaa>Aaa	p.E386K		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	386						integral to membrane	binding										AAACCTTTTGGAAATGATACA	0.408000														111			9		0	0	1	0	0
NKX6-2	84504	broad.mit.edu	37	10	134598469	134598469	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134598469T>G	uc001llr.2	-	2	870	c.785A>C	c.(784-786)aAc>aCc	p.N262T		NM_177400	NP_796374	Q9C056	NKX62_HUMAN	Homo sapiens NK6 homeobox 2 (NKX6-2), mRNA.	262						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(2)	3		all_cancers(35;2.79e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0584)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;4.06e-05)|Epithelial(32;5.53e-05)|all cancers(32;5.99e-05)		CAGCGCCAAGTTCGAGGGTTT	0.677000														105			19		0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633606	79633606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633606C>T	uc002ffm.3	-	0	1017	c.194G>A	c.(193-195)aGc>aAc	p.S65N	MAF_uc002ffn.3_Missense_Mutation_p.S65N	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	65					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GGGCACCGAGCTGCACGGCGT	0.682000			T	IGH@	MM									85			17		0	0	1	0	0
EIF5AL1	143244	broad.mit.edu	37	10	81272742	81272742	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81272742C>T	uc009xrx.3	+	0	386	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AK302451_uc010qls.1_5'Flank	NM_001099692	NP_001093162	Q6IS14	IF5AL_HUMAN	Homo sapiens eukaryotic translation initiation factor 5A-like 1 (EIF5AL1), mRNA.	113					mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport	endoplasmic reticulum membrane|nuclear pore	ribosome binding|translation elongation factor activity			endometrium(1)	1	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGAGGACCTTCGTCTCCCTGA	0.552000														247			22		0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77423893	77423893	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:77423893C>T	uc003kfj.3	-	16	2054	c.1929G>A	c.(1927-1929)gcG>gcA	p.A643A		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	643					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGGGTCGGGCGCCACCTCTG	0.398000									Hermansky-Pudlak syndrome					98			10		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666546	34666546	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34666546C>A	uc001bxt.3	+	2	2021	c.1183C>A	c.(1183-1185)Ctc>Atc	p.L395I	C1orf94_uc001bxs.4_Missense_Mutation_p.L205I	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	205							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAAGAACTTGCTCTATGAGTT	0.577000														74			18		3.41278e-10	3.83229e-10	1	1	0
DLX6	1750	broad.mit.edu	37	7	96639212	96639212	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96639212G>A	uc022ahu.1	+	2	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	127					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGGCCCTGTCGCCACGCTCGC	0.577000														120			19		0	0	1	0	0
EIF2C1	26523	broad.mit.edu	37	1	36359359	36359359	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36359359C>T	uc001bzl.3	+	4	810	c.597C>T	c.(595-597)ggC>ggT	p.G199G	EIF2C1_uc001bzk.3_Silent_p.G124G|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	199					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGGTTCGGCTTTCACCAGT	0.632000														113			16		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133589810	133589810	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133589810G>T	uc004bzv.3	+	0	543	c.104G>T	c.(103-105)gGg>gTg	p.G35V		NM_007313	NP_009297	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant b, mRNA.	0	CAP.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TCGAGGCATGGGGGTCCACAC	0.478000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									141			7		0.00198382	0.00202356	1	1	0
NOS1	4842	broad.mit.edu	37	12	117703293	117703293	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117703293T>C	uc001twn.2	-	11	2675	c.1964A>G	c.(1963-1965)gAc>gGc	p.D655G	NOS1_uc021ren.1_Missense_Mutation_p.D319G|NOS1_uc021reo.1_Missense_Mutation_p.D319G|NOS1_uc001twm.2_Missense_Mutation_p.D655G	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	655					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGAGTGATGGTCAACAATGGT	0.597000														17			5		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076904	57076904	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57076904A>G	uc001njr.3	-	4	3593	c.3281T>C	c.(3280-3282)gTt>gCt	p.V1094A	TNKS1BP1_uc001njs.3_Missense_Mutation_p.V1094A|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.V545A	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1094	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGGGGGCCAACACTGAGGCT	0.612000														143			37		0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169653	207169653	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207169653G>A	uc002vbp.2	+	4	651	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	134							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTTCAGTTCGACCATCAGTT	0.443000														42			14		0	0	1	0	0
TAZ	6901	broad.mit.edu	37	X	153641878	153641878	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153641878T>G	uc010nuy.3	+	3	398	c.398T>G	c.(397-399)tTg>tGg	p.L133W	DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fkx.3_Missense_Mutation_p.L115W|TAZ_uc004fky.3_Missense_Mutation_p.L115W|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.L115W|TAZ_uc004flb.3_Missense_Mutation_p.L115W|TAZ_uc004flc.4_Missense_Mutation_p.L90W	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	115	Hydrophilic.				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	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)					TTCTTCAGCTTGGGCAAGTGT	0.592000														139			36		0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953519	8953519	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8953519G>T	uc002mko.2	+	0	251	c.165G>T	c.(163-165)tgG>tgT	p.W55C		NM_145208	NP_660209	Q8WWY6	MB3L1_HUMAN	Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA.	55	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						ACCATCAATGGGAGGAGAGCT	0.512000														123			39		5.71845e-15	6.74756e-15	1	1	0
LACC1	144811	broad.mit.edu	37	13	44464409	44464409	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:44464409A>G	uc010acg.3	+	6	1779	c.1294_splice	c.e6+1		LACC1_uc001uzf.4_Splice_Site	NM_001128303	NP_694950	Q8IV20	CM031_HUMAN	Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA.																		TTAAAGAATGAGGTACAGTAG	0.428000														55			15		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148747604	148747604	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148747604G>T	uc003lqk.2	+	5	934	c.872G>T	c.(871-873)aGc>aTc	p.S291I	PCYOX1L_uc003lql.2_Missense_Mutation_p.S274I|PCYOX1L_uc010jgz.2_Missense_Mutation_p.S215I|PCYOX1L_uc003lqm.2_Missense_Mutation_p.S173I|PCYOX1L_uc003lqn.2_Missense_Mutation_p.S201I	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	291					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGGCAACAGCTCTGACTTC	0.527000											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		316			15		1.5739e-10	1.77479e-10	1	1	0
XCR1	2829	broad.mit.edu	37	3	46063378	46063378	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46063378G>A	uc003cpe.3	-	2	286	c.62C>T	c.(61-63)cCg>cTg	p.P21L	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.P21L|XCR1_uc021wwx.1_Missense_Mutation_p.P21L	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	21					G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GTTCTCACACGGCTGGCTCTG	0.552000														121			23		0	0	1	0	0
DDX27	55661	broad.mit.edu	37	20	47836014	47836014	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47836014C>A	uc002xuh.3	+	0	183	c.122C>A	c.(121-123)aCc>aAc	p.T41N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	41						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTAATCGGAACCATAGGCGAG	0.602000														79			13		1.05317e-09	1.17384e-09	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57318998	57318998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57318998G>A	uc004dvc.3	+	1	409	c.260G>A	c.(259-261)gGa>gAa	p.G87E		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	87						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						ATGATCAATGGAATTGTCAAG	0.393000										HNSCC(52;0.14)				95			19		0	0	1	0	0
MAFF	23764	broad.mit.edu	37	22	38610560	38610560	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38610560G>A	uc003avd.3	+	2	373	c.318G>A	c.(316-318)ccG>ccA	p.P106P	MAFF_uc011anp.2_Missense_Mutation_p.R57H|MAFF_uc003avc.3_Missense_Mutation_p.R57H|MAFF_uc011anq.2_Missense_Mutation_p.R28H|MAFF_uc011anr.2_Missense_Mutation_p.R57H|MAFF_uc021wpn.1_Missense_Mutation_p.R28H	NM_012323	NP_036455	Q9ULX9	MAFF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian) (MAFF), transcript variant 1, mRNA.	79	Leucine-zipper.				blood coagulation|parturition|transcription from RNA polymerase II promoter	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)	3	Melanoma(58;0.045)					CAGCGGCGCCGCACACTCAAA	0.682000														41			14		0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12616471	12616471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12616471C>T	uc003bxd.3	+	4	879	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MKRN2_uc011aus.2_Missense_Mutation_p.R232W	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	275						intracellular	ligase activity|nucleic acid binding|zinc ion binding	p.R275Q(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CCGGCAGTGGCGGTGTGCCAA	0.473000														91			15		0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44807123	44807123	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44807123G>A	uc003tlr.3	+	18	2787	c.2664G>A	c.(2662-2664)ccG>ccA	p.P888P	ZMIZ2_uc003tlq.3_Silent_p.P830P|ZMIZ2_uc003tls.3_Silent_p.P862P|ZMIZ2_uc003tlt.3_Silent_p.P511P|ZMIZ2_uc010kyj.3_Silent_p.P410P|ZMIZ2_uc003tlu.3_Silent_p.P169P|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.	888	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						AGCTGCTCCCGGAACTGACCA	0.542000														84			20		0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149545235	149545235	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149545235G>A	uc010lpn.3	+	3	845	c.653G>A	c.(652-654)cGg>cAg	p.R218Q		NM_001099220	NP_001092690	O60290	ZN862_HUMAN	Homo sapiens zinc finger protein 862 (ZNF862), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GCCCGGTTCCGGAGCATCAGA	0.592000														94			20		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41275022	41275022	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275022A>C	uc010hia.1	+	9	1344	c.1188A>C	c.(1186-1188)gaA>gaC	p.E396D	CTNNB1_uc003ckq.2_Missense_Mutation_p.E396D|CTNNB1_uc003ckp.2_Missense_Mutation_p.E396D|CTNNB1_uc003ckr.2_Missense_Mutation_p.E396D|CTNNB1_uc011azf.1_Missense_Mutation_p.E389D|CTNNB1_uc011azg.1_Missense_Mutation_p.E324D|CTNNB1_uc003cks.3_5'UTR|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	396					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	CTCCATAGGAAGGGATGGAAG	0.433000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					195			52		0	0	1	0	0
TRMT61A	115708	broad.mit.edu	37	14	103996563	103996563	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103996563G>A	uc001yng.3	+	1	367	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TRMT61A_uc010aws.3_Intron	NM_152307	NP_689520	Q96FX7	TRM61_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog A (S. cerevisiae) (TRMT61A), mRNA.	83						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CTGCCGCACCGCACGCAGATC	0.642000														267			50		0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056007	102056007	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102056007C>T	uc001kqx.1	-	6	1611	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	PKD2L1_uc009xwm.1_Missense_Mutation_p.E363K	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	410					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CGATTCACCTCGAGGGTTCGG	0.542000														74			25		0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143003299	143003299	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:143003299T>C	uc003iix.4	-	25	3122	c.2527A>G	c.(2527-2529)Aaa>Gaa	p.K843E	INPP4B_uc003iiw.4_Missense_Mutation_p.K843E|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.K658E|INPP4B_uc011cho.1_Non-coding_Transcript	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	843					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTGGCACTTTTACAACAGGTG	0.418000														91			15		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83793159	83793159	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83793159C>T	uc003hnh.3	-	6	900	c.720G>A	c.(718-720)gtG>gtA	p.V240V	SEC31A_uc003hne.3_5'Flank|SEC31A_uc011ccl.2_Silent_p.V240V|SEC31A_uc003hnl.3_Silent_p.V240V|SEC31A_uc003hng.3_Silent_p.V240V|SEC31A_uc011ccm.2_Silent_p.V235V|SEC31A_uc003hni.3_Silent_p.V240V|SEC31A_uc003hnk.3_Silent_p.V240V|SEC31A_uc003hnf.3_Silent_p.V240V|SEC31A_uc011ccn.2_Silent_p.V240V|SEC31A_uc003hnm.3_Silent_p.V240V|SEC31A_uc003hnn.2_Silent_p.V240V|SEC31A_uc003hno.3_Silent_p.V240V	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	240	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ACATCTGGATCACTGGTAACC	0.468000														71			18		0	0	1	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339989	29339989	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29339989G>A	uc002kxa.2	-	0	855	c.636C>T	c.(634-636)gtC>gtT	p.V212V		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	212					transport	integral to membrane|mitochondrial inner membrane											TAAAATCATTGACCAAATGAG	0.458000														161			18		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700899	136700899	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:136700899T>C	uc003vtf.1	+	3	1910	c.1287T>C	c.(1285-1287)tgT>tgC	p.C429C	CHRM2_uc003vtg.1_Silent_p.C429C|CHRM2_uc003vti.1_Silent_p.C429C|CHRM2_uc003vtm.1_Silent_p.C429C|CHRM2_uc003vtj.1_Silent_p.C429C|CHRM2_uc003vtk.1_Silent_p.C429C|CHRM2_uc003vtl.1_Silent_p.C429C|CHRM2_uc003vtn.1_Silent_p.C429C|CHRM2_uc003vto.1_Silent_p.C429C|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.C429C	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	429					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACTGGCTTTGTTACATCAACA	0.438000														185			33		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118099	118099	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrGL000205.1:118099C>T	uc002kgk.4	+	0		c.1477C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ATCTCATCTGCACTCCTCTCA	0.562000														120			14		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40972682	40972682	+	Missense_Mutation	SNP	G	A	A	rs113187203		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:40972682G>A	uc003jmh.3	+	14	2174	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	687	Sushi 2.		R -> H (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGAATGCCCGCTGTGTACAA	0.498000														179			21		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694624	42694624	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42694624C>T	uc010ggo.3	+	6	1273	c.1233C>T	c.(1231-1233)caC>caT	p.H411H	TOX2_uc002xle.4_Silent_p.H369H|TOX2_uc010ggp.3_Silent_p.H369H|TOX2_uc002xlf.4_Silent_p.H393H|TOX2_uc010zwk.2_Silent_p.H289H	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	393	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCCCTCACGCCCAGGGCG	0.701000														105			33		0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384868	58384868	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58384868G>A	uc001nmx.4	+	10	1570	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	ZFP91_uc001nmy.4_Missense_Mutation_p.A467T|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	468					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAATGCAGGCGCCCTCATCAC	0.537000														82			20		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12358738	12358738	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12358738C>A	uc002kqz.2	-	7	1151	c.957G>T	c.(955-957)gaG>gaT	p.E319D		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	319					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ATTCCATGATCTCTAGCTTGG	0.398000														104			27		7.92952e-12	9.07913e-12	1	1	0
NRXN3	9369	broad.mit.edu	37	14	79454462	79454462	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79454462T>C	uc001xun.3	+	11	2612	c.2121T>C	c.(2119-2121)taT>taC	p.Y707Y	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.Y832Y	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGACCTCTTATTCTGGAAACC	0.438000														133			32		0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14080831	14080831	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14080831G>T	uc002mxv.3	-	9	1743	c.1471C>A	c.(1471-1473)Ctg>Atg	p.L491M	RFX1_uc010dzi.2_Missense_Mutation_p.L491M	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	491					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGGTTCGCAGGCCCATGAAG	0.647000														93			19		1.01871e-10	1.15017e-10	1	1	0
EID3	493861	broad.mit.edu	37	12	104697806	104697806	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104697806G>A	uc001tkw.3	+	0	297	c.94G>A	c.(94-96)Gct>Act	p.A32T	TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGAGCTCACCGCTGACGAGGA	0.637000														76			17		0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43796726	43796726	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43796726C>A	uc002zbb.2	-	10	1319	c.1118G>T	c.(1117-1119)aGg>aTg	p.R373M	TMPRSS3_uc002zay.2_Missense_Mutation_p.R130M|TMPRSS3_uc002zaz.2_Missense_Mutation_p.R246M|TMPRSS3_uc002zba.2_Missense_Mutation_p.R246M|TMPRSS3_uc002zbc.2_Missense_Mutation_p.R372M	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	373	Peptidase S1.			ICNHRDVYGGIISPSMLCAGYLTGGVD -> DLQPQGRVRW HHLPLHALRGLPDGWRWN (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GTACACGTCCCTGTGGTTGCA	0.627000														323			99		1.49228e-48	1.90384e-48	1	1	0
NAIF1	203245	broad.mit.edu	37	9	130829277	130829277	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130829277A>G	uc004bta.3	-	0	323	c.104T>C	c.(103-105)tTc>tCc	p.F35S	SLC25A25_uc004btb.3_5'Flank	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN	Homo sapiens nuclear apoptosis inducing factor 1 (NAIF1), mRNA.	35	Required for nuclear localization and apoptosis-inducing activity.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCGGCGTTGAAGTGGTTCAC	0.627000														364			52		0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135032456	135032456	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135032456C>A	uc001llz.1	+	27	4801	c.4800_splice	c.e27+1	p.P1600_splice		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1600	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGCAGTCCCCTGTGCGTCCC	0.597000														224			48		3.05275e-18	3.6841e-18	1	1	0
KANK1	23189	broad.mit.edu	37	9	712587	712587	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:712587G>T	uc003zgl.1	+	6	2470	c.1821G>T	c.(1819-1821)gaG>gaT	p.E607D	KANK1_uc003zgm.3_Missense_Mutation_p.E607D|KANK1_uc003zgn.1_Missense_Mutation_p.E607D|KANK1_uc003zgo.1_Missense_Mutation_p.E607D|KANK1_uc003zgp.1_Missense_Mutation_p.E607D|KANK1_uc003zgq.2_Missense_Mutation_p.E449D|KANK1_uc003zgr.1_Missense_Mutation_p.E449D|KANK1_uc003zgs.1_Missense_Mutation_p.E449D	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	607					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GCAACACAGAGGAGTCTGTGA	0.507000														128			23		7.41877e-09	8.17068e-09	1	1	0
PSMA2	5683	broad.mit.edu	37	7	42957219	42957219	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42957219C>A	uc003thy.3	-	7	707	c.659G>T	c.(658-660)aGg>aTg	p.R220M	C7orf25_uc010kxr.3_Intron	NM_002787	NP_002778	P25787	PSA2_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 2 (PSMA2), mRNA.	220					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						TGGAGTAAGCCTCCTAAATCC	0.378000														61			18		1.33834e-09	1.48855e-09	1	1	0
SLC10A5	347051	broad.mit.edu	37	8	82606167	82606167	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606167A>G	uc011lfs.2	-	0	1041	c.1041T>C	c.(1039-1041)ggT>ggC	p.G347G		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	347						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAAACAGCAAACCCAAAGCAG	0.383000														53			12		0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87056075	87056075	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87056075G>A	uc003uiv.1	-	15	2131	c.2055C>T	c.(2053-2055)acC>acT	p.T685T	ABCB4_uc003uiw.1_Silent_p.T685T|ABCB4_uc003uix.1_Silent_p.T685T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	685					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.T685S(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CAAGTCCATCGGTTTCCACAT	0.353000														80			20		0	0	1	0	0
C1QTNF3	114899	broad.mit.edu	37	5	34033454	34033454	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34033454G>A	uc003jio.3	-	2	666	c.525C>T	c.(523-525)ggC>ggT	p.G175G	C1QTNF3_uc003jin.3_Silent_p.G102G	NM_181435	NP_852100	Q9BXJ4	C1QT3_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 3 (C1QTNF3), transcript variant 2, mRNA.	102	C1q.					collagen				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|prostate(3)|stomach(1)|urinary_tract(1)	17	all_lung(31;0.0207)					CTCCTTTGGGGCCATGCTGCC	0.577000														140			23		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9016434	9016434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9016434G>A	uc001quz.4	+	28	3645	c.3547G>A	c.(3547-3549)Gcc>Acc	p.A1183T	A2ML1_uc001qva.1_Missense_Mutation_p.A763T|A2ML1_uc010sgm.2_Missense_Mutation_p.A683T	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	1027						extracellular space	endopeptidase inhibitor activity	p.N1182K(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ATCATCGAACGCCAGCCCTTG	0.488000														101			27		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159672509	159672509	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159672509C>T	uc010kjv.3	+	16	5210	c.5010C>T	c.(5008-5010)tgC>tgT	p.C1670C		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1670	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGAAGGTTGCCACTCATTTG	0.547000														41			4		0	0	1	0	0
C7orf66	154907	broad.mit.edu	37	7	108524165	108524165	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108524165G>A	uc003vfo.3	-	1	295	c.247C>T	c.(247-249)Cat>Tat	p.H83Y		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	83						integral to membrane		p.I82I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TATCCCTCATGAATTCTAGTT	0.393000														123			18		0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1132252	1132252	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1132252G>C	uc009xhm.1	+	6	732	c.559G>C	c.(559-561)Gag>Cag	p.E187Q	WDR37_uc001ige.3_Missense_Mutation_p.E187Q|WDR37_uc001igf.1_Missense_Mutation_p.E187Q|WDR37_uc009xhn.1_Non-coding_Transcript|WDR37_uc001igg.1_Non-coding_Transcript	NM_014023	NP_054742	Q9Y2I8	WDR37_HUMAN	Homo sapiens WD repeat domain 37 (WDR37), mRNA.	187										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GTGGAGCATAGAGACAGGGAA	0.483000														80			13		0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172365723	172365723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172365723C>T	uc011bpx.2	-	1	554	c.416G>A	c.(415-417)cGc>cAc	p.R139H	NCEH1_uc003fig.3_Missense_Mutation_p.R139H|NCEH1_uc011bpw.2_5'UTR|NCEH1_uc011bpy.2_Intron	NM_001146276	NP_001139750	Q6PIU2	NCEH1_HUMAN	Homo sapiens neutral cholesterol ester hydrolase 1 (NCEH1), transcript variant 1, mRNA.	107					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AACGACGCTGCGTTTCAGTGG	0.562000														116			20		0	0	1	0	0
TRNAU1AP	54952	broad.mit.edu	37	1	28891240	28891240	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28891240G>T	uc001bqi.3	+	4	398	c.304G>T	c.(304-306)Gac>Tac	p.D102Y	TRNAU1AP_uc001bqh.3_5'UTR|TRNAU1AP_uc010ofw.2_5'UTR	NM_017846	NP_060316	Q9NX07	TSAP1_HUMAN	Homo sapiens tRNA selenocysteine 1 associated protein 1 (TRNAU1AP), transcript variant 1, mRNA.	102	RRM 2.				selenocysteine incorporation	cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						CTTTGTGGGGGACCTGACCCC	0.512000														153			16		1.15088e-07	1.24477e-07	1	1	0
ZNF787	126208	broad.mit.edu	37	19	56600160	56600160	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56600160G>A	uc010eth.1	-	2	500	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		AGCGCTTGCCGCACTCCAAGC	0.672000														52			10		0	0	1	0	0
LYPD1	116372	broad.mit.edu	37	2	133403818	133403818	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133403818C>A	uc002ttm.4	-	3	374	c.274G>T	c.(274-276)Gcc>Tcc	p.A92S	GPR39_uc002ttl.3_3'UTR|LYPD1_uc002ttn.3_Missense_Mutation_p.A76S|LYPD1_uc002tto.3_Missense_Mutation_p.A24S	NM_001077427	NP_001070895	Q8N2G4	LYPD1_HUMAN	Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA.	76	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						ATGAGACAGGCCGCTGATGAT	0.552000														82			9		0.00621372	0.00630477	1	1	0
FBXO31	79791	broad.mit.edu	37	16	87364932	87364932	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87364932C>T	uc002fjw.3	-	8	1626	c.1582G>A	c.(1582-1584)Gat>Aat	p.D528N	FBXO31_uc010vot.2_Missense_Mutation_p.D356N|FBXO31_uc002fjv.3_Missense_Mutation_p.D420N	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	528					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCATCTCATCGAAGGCCTGT	0.617000														139			25		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624689	101624689	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624689T>C	uc010fiv.3	-	19	3148	c.3017A>G	c.(3016-3018)gAa>gGa	p.E1006G	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Missense_Mutation_p.E763G	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	1006					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						TTCTGGATCTTCATGGAACAT	0.468000														38			14		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111979911	111979911	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111979911T>G	uc003vge.2	+	9	1109	c.980T>G	c.(979-981)tTt>tGt	p.F327C	ZNF277_uc003vgf.2_Missense_Mutation_p.F249C	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	327						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCACACGAATTTGATCTTCTC	0.313000														77			15		0	0	1	0	0
RACGAP1	29127	broad.mit.edu	37	12	50386039	50386039	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50386039G>A	uc001rvt.2	-	15	1877	c.1567C>T	c.(1567-1569)Cgt>Tgt	p.R523C	RACGAP1_uc009zlm.1_Missense_Mutation_p.R523C|RACGAP1_uc001rvs.2_Missense_Mutation_p.R523C|RACGAP1_uc001rvu.2_Missense_Mutation_p.R523C	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	523	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTGGGTTGACGCTTGATGTCC	0.468000														199			42		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137772718	137772718	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137772718C>A	uc004cfg.1	+	0	61	c.51C>A	c.(49-51)ctC>ctA	p.L17L	FCN2_uc004cfh.1_Silent_p.L17L	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	17					complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CCCTGCTGCTCTCTTTCCTGG	0.607000														47			4		0.00909568	0.00920877	1	1	0
PPARD	5467	broad.mit.edu	37	6	35393666	35393666	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35393666G>A	uc003okn.3	+	8	1541	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	PPARD_uc011dtb.2_Missense_Mutation_p.R340H|PPARD_uc011dtc.2_Missense_Mutation_p.R281H|PPARD_uc003okm.3_Missense_Mutation_p.R379H	NM_001171818	NP_006229	Q03181	PPARD_HUMAN	Homo sapiens peroxisome proliferator-activated receptor delta (PPARD), transcript variant 3, mRNA.	379	Ligand-binding.				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R379H(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	ACCATCCTGCGTGCCCTCGAA	0.627000														139			31		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127954833	127954833	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127954833G>A	uc003vmp.2	-	16	2144	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	RBM28_uc011koj.1_Nonsense_Mutation_p.R536*	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	677					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TTGGGGCCTCGGTGTGAGGGG	0.542000														374			50		0	0	1	0	0
PIH1D1	55011	broad.mit.edu	37	19	49952887	49952887	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49952887G>A	uc002pns.2	-	2	466	c.182C>T	c.(181-183)tCg>tTg	p.S61L	PIH1D1_uc010yap.2_Silent_p.L91L|PIH1D1_uc010yaq.2_Missense_Mutation_p.S61L	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	61					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CTTCCCTTCCGAGGAGTTGGT	0.542000														76			15		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47622859	47622859	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47622859T>C	uc002eev.4	+	9	966	c.914T>C	c.(913-915)tTt>tCt	p.F305S	PHKB_uc002eeu.4_Missense_Mutation_p.F298S	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	305					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TATCCTGCATTTGCCCTGGAT	0.423000														109			7		0	0	1	0	0
SGSM2	9905	broad.mit.edu	37	17	2281186	2281186	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2281186G>T	uc002fum.4	+	21	3015	c.2838G>T	c.(2836-2838)caG>caT	p.Q946H	SGSM2_uc002fun.4_Missense_Mutation_p.Q901H|SGSM2_uc010vqw.2_Missense_Mutation_p.Q901H|SGSM2_uc002fuq.3_Missense_Mutation_p.Q63H	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	901						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TGATGCATCAGAATGGAGACT	0.537000														151			24		2.08973e-25	2.60536e-25	1	1	0
AKNAD1	254268	broad.mit.edu	37	1	109394773	109394773	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109394773G>A	uc001dwa.3	-	1	783	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	172										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTCGGGTTGAGTTGGTCAGTG	0.423000														122			33		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149243447	149243447	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149243447G>A	uc002twm.4	+	10	3979	c.2982G>A	c.(2980-2982)gcG>gcA	p.A994A	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_Silent_p.A252A|MBD5_uc002twp.3_Silent_p.A44A	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	994						chromosome|nucleus	DNA binding|chromatin binding	p.A994A(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATCTCCAGGCGTTCCAAGGAC	0.458000														131			41		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050771	36050771	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050771G>T	uc002oal.1	-	6	1021	c.992C>A	c.(991-993)gCc>gAc	p.A331D	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	331					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A331A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GAAGACCATGGCCCGCAGGAA	0.587000														105			26		1.77063e-15	2.09702e-15	1	1	0
RAP1GDS1	5910	broad.mit.edu	37	4	99214651	99214651	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:99214651G>T	uc003htw.4	+	1	290	c.100G>T	c.(100-102)Gcc>Tcc	p.A34S	RAP1GDS1_uc003htx.4_Missense_Mutation_p.A33S|RAP1GDS1_uc003htv.4_Missense_Mutation_p.A34S|RAP1GDS1_uc003htz.4_Missense_Mutation_p.A33S|RAP1GDS1_uc003hty.4_Missense_Mutation_p.A34S|RAP1GDS1_uc003hua.4_Missense_Mutation_p.A34S	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	33							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TCTGCTTCAAGCCCTGGCTCA	0.358000			T	NUP98	T-ALL									35			8		2.74318e-10	3.085e-10	1	1	0
RGS10	6001	broad.mit.edu	37	10	121286924	121286924	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121286924C>A	uc001lee.3	-	0	38	c.38G>T	c.(37-39)aGc>aTc	p.S13I	RGS10_uc001lef.3_Missense_Mutation_p.S7I|RGS10_uc001leg.3_Missense_Mutation_p.S21I	NM_002925	NP_002916	O43665	RGS10_HUMAN	Homo sapiens regulator of G-protein signaling 10 (RGS10), transcript variant 2, mRNA.	13					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		ACTGCCATCGCTGTCGTGGAT	0.527000														115			13		1.5842e-08	1.73923e-08	1	1	0
FBXL12	54850	broad.mit.edu	37	19	9921948	9921948	+	Missense_Mutation	SNP	C	A	A	rs142733350	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9921948C>A	uc002mme.3	-	2	847	c.605G>T	c.(604-606)aGc>aTc	p.S202I	FBXL12_uc002mmd.3_Missense_Mutation_p.S149I|FBXL12_uc002mmf.3_Missense_Mutation_p.S149I|FBXL12_uc002mmg.3_Missense_Mutation_p.S149I	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	202							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CTGCAGATAGCTGAGCTCCTG	0.667000														124			32		8.88839e-20	1.08155e-19	1	1	0
GINS2	51659	broad.mit.edu	37	16	85712255	85712255	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85712255G>A	uc002fja.3	-	3	407	c.323C>T	c.(322-324)cCg>cTg	p.P108L		NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	108					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GTCTGCCTTCGGGATGTTGTC	0.512000														185			33		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	8973992	8973992	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8973992G>T	uc002mkp.3	-	75	42883	c.42679C>A	c.(42679-42681)Ctg>Atg	p.L14227M	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.L1027M|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14290				Missing (in Ref. 3; AAK74120).	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						ATGTCCCTCAGCAGGGTGATG	0.502000														18			6		0.00116845	0.00119477	1	1	0
NT5C3	51251	broad.mit.edu	37	7	33057137	33057137	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:33057137C>T	uc003tdk.3	-	6	699	c.622G>A	c.(622-624)Gat>Aat	p.D208N	AVL9_uc011kai.2_Intron|NT5C3_uc022abo.1_Missense_Mutation_p.D157N|NT5C3_uc003tdi.3_Missense_Mutation_p.D169N|NT5C3_uc003tdj.3_Missense_Mutation_p.D169N	NM_001002010	NP_001159590	Q9H0P0	5NT3_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic III (NT5C3), transcript variant 1, mRNA.	208					nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14			GBM - Glioblastoma multiforme(11;0.0894)			TCTAGTACATCGCCGATTCCA	0.373000														106			23		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56420013	56420013	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:56420013G>T	uc002rzn.3	+	1	1180	c.678G>T	c.(676-678)aaG>aaT	p.K226N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	226	His-rich.							p.K226*(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACCACCACAAGCACCACGCGA	0.687000														154			38		6.29468e-14	7.37188e-14	1	1	0
COL4A2	1284	broad.mit.edu	37	13	111164356	111164356	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111164356A>C	uc001vqx.3	+	47	5246	c.4957A>C	c.(4957-4959)Aca>Cca	p.T1653P		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1653	Collagen IV NC1.				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)			CTTCCGCGCCACACCATTCAT	0.627000														225			26		0	0	1	0	0
PPP6R1	22870	broad.mit.edu	37	19	55748115	55748115	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55748115G>A	uc002qjv.3	-	15	2153	c.2070C>T	c.(2068-2070)gaC>gaT	p.D690D	PPP6R1_uc002qjw.4_Silent_p.D628D	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 1 (PPP6R1), mRNA.	628					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding			breast(1)	1						CCTCTTCCTCGTCCTCCTCTT	0.632000														87			6		0	0	1	0	0
TMEM192	201931	broad.mit.edu	37	4	166021946	166021946	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166021946T>G	uc003iqz.4	-	2	372	c.273A>C	c.(271-273)aaA>aaC	p.K91N		NM_001100389	NP_001093859	Q8IY95	TM192_HUMAN	Homo sapiens transmembrane protein 192 (TMEM192), mRNA.	91						Golgi apparatus|integral to membrane|late endosome|lysosomal membrane|nucleus				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0926)		CCGTCTGAACTTTCAATGGGT	0.388000														76			20		0	0	1	0	0
METTL11A	28989	broad.mit.edu	37	9	132395137	132395137	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132395137T>G	uc004byd.1	+	1	349	c.155T>G	c.(154-156)tTt>tGt	p.F52C	METTL11A_uc011mbs.1_Missense_Mutation_p.F52C|METTL11A_uc010myw.1_Intron	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.	52					N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|chromosome segregation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						CTGCAGAGGTTTTTGAGGGTA	0.567000														198			61		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109808459	109808459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109808459C>T	uc001dxa.4	+	13	5891	c.5830C>T	c.(5830-5832)Cca>Tca	p.P1944S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1944	Laminin EGF-like.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGCCAGTGTCCATGCAAGCC	0.617000														83			23		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860390	113860390	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113860390G>A	uc010rxb.2	+	7	1689	c.1456G>A	c.(1456-1458)Gtg>Atg	p.V486M	HTR3A_uc010rxa.2_Missense_Mutation_p.V454M|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.V433M	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	448					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGTGGGCTCCGTGCTGGACAA	0.602000														193			50		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89017970	89017970	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89017970G>A	uc001pcs.3	+	3	1296	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	405			R -> L (in OCA1A).		eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.R405S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CGAAGGCACCGTCCTCTTCAA	0.383000														74			20		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569529	100569529	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100569529A>G	uc003dun.3	-	13	1360	c.1275T>C	c.(1273-1275)acT>acC	p.T425T	ABI3BP_uc003duo.2_Silent_p.T467T	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	425	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCTGTTCAAGAGTTCTAGAAG	0.353000														58			11		0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55086784	55086784	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086784C>A	uc010ern.3	+	5	1186	c.717C>A	c.(715-717)agC>agA	p.S239R	LILRA1_uc002qgg.4_Missense_Mutation_p.S239R|LILRA1_uc002qgf.3_Missense_Mutation_p.S239R|LILRA1_uc010yfe.1_Missense_Mutation_p.S239R|LILRA1_uc010yff.1_Missense_Mutation_p.S227R|LILRA1_uc010ero.3_Missense_Mutation_p.S227R|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	241	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.G239E(1)|p.G239W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCGGGGAGAGCCTGACCCTCC	0.577000														215			50		2.43139e-17	2.91435e-17	1	1	0
C13orf33	84935	broad.mit.edu	37	13	31491584	31491584	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:31491584A>G	uc001uth.4	+	1	664	c.323A>G	c.(322-324)gAa>gGa	p.E108G	TEX26-AS1_uc001utg.2_Intron	NM_032849	NP_116238	Q5VYS4	CM033_HUMAN	Homo sapiens chromosome 13 open reading frame 33 (C13orf33), mRNA.	108										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		Lung SC(185;0.0281)		all cancers(112;0.00914)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.0559)|GBM - Glioblastoma multiforme(144;0.244)		GACTACAGGGAAACTATATTG	0.343000														70			15		0	0	1	0	0
OR13C9	286362	broad.mit.edu	37	9	107379988	107379988	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107379988C>T	uc011lvr.2	-	0	498	c.498G>A	c.(496-498)ttG>ttA	p.L166L		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	166					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						TGCAGAAAGGCAATTGTACTA	0.443000														132			21		0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37723012	37723012	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37723012C>T	uc003jkv.3	+	14	1631	c.1573C>T	c.(1573-1575)Cta>Tta	p.L525L		NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	525								p.T524I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCTGAGACTCTAACTCAGGA	0.403000														71			10		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35715097	35715097	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715097C>T	uc003zxt.2	-	20	3067	c.2713G>A	c.(2713-2715)Gcg>Acg	p.A905T		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	905					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCATTCTGCGCAGCTGCATTG	0.622000														245			37		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277266	160277266	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160277266G>A	uc003iqg.4	+	22	4740	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1477					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TCTGACCCGCGCCTCGCCCCC	0.532000														72			18		0	0	1	0	0
SYT5	6861	broad.mit.edu	37	19	55687085	55687085	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55687085C>T	uc002qjm.1	-	3	1592	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	SYT5_uc002qjp.2_Missense_Mutation_p.A175T|SYT5_uc002qjn.1_Missense_Mutation_p.A178T|SYT5_uc002qjo.1_Missense_Mutation_p.A178T	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	178	C2 1.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		ACCTTGAAGGCGAAGGTCTCC	0.627000														187			36		0	0	1	0	0
PICALM	8301	broad.mit.edu	37	11	85733411	85733411	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85733411C>A	uc001pbm.3	-	4	769	c.452_splice	c.e4+1	p.G151_splice	PICALM_uc001pbl.3_Splice_Site_p.G151_splice|PICALM_uc001pbn.3_Splice_Site_p.G151_splice|PICALM_uc010rtl.2_Splice_Site_p.G100_splice	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	151					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	Golgi apparatus|clathrin coat|clathrin-coated vesicle|coated pit|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TTAACTCACCCTCTCTTCACT	0.279000			T	"""MLLT10, MLL"""	"""TALL, AML, """									57			16		1.52009e-12	1.75732e-12	1	1	0
ZBTB46	140685	broad.mit.edu	37	20	62421293	62421293	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62421293C>T	uc002ygv.2	-	1	1019	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTTGTTTTTCCGATTCTTCCT	0.627000														228			58		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55708767	55708767	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55708767C>T	uc002qjq.3	-	8	1781	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	PTPRH_uc010esv.3_Missense_Mutation_p.D392N|PTPRH_uc002qjs.2_Missense_Mutation_p.D577N	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	570	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCTGGAGATCTGTGACCTCA	0.557000														149			10		0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106156867	106156867	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:106156867C>A	uc011cez.2	+	2	2236	c.1831C>A	c.(1831-1833)Ctt>Att	p.L611I	TET2_uc003hxk.3_Missense_Mutation_p.L590I|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.L590I|TET2_uc010ilp.2_Missense_Mutation_p.L590I|TET2_uc021xql.1_Missense_Mutation_p.L590I	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	590	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L590_H650del(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GCCATCAATTCTTCAGTATCA	0.463000			"""Mis N, F"""		MDS									132			12		6.40141e-05	6.6609e-05	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561811	11561811	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11561811G>A	uc001ash.4	+	1	900	c.762G>A	c.(760-762)tcG>tcA	p.S254S	PTCHD2_uc001asi.1_Silent_p.S254S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	254					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GAGGCGCCTCGCGCTGGGACT	0.701000														40			4		0	0	1	0	0
LTK	4058	broad.mit.edu	37	15	41805286	41805286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:41805286C>A	uc001zoa.3	-	1	254	c.76G>T	c.(76-78)Gag>Tag	p.E26*	LTK_uc001zob.3_Nonsense_Mutation_p.E26*|LTK_uc010ucx.1_Nonsense_Mutation_p.E26*|LTK_uc010bcg.2_Intron	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	26					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		AGAAAAGTCTCCTGGGACCCC	0.617000										TSP Lung(18;0.14)				48			8		1.06961e-07	1.15953e-07	1	1	0
NDUFA9	4704	broad.mit.edu	37	12	4796197	4796197	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4796197C>A	uc001qnc.3	+	10	1086	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	NDUFA9_uc010ses.2_Missense_Mutation_p.L134M	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	353					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CATTGAGGTGCTGCGGCGTCA	0.522000														54			20		1.96292e-10	2.20843e-10	1	1	0
WFDC1	58189	broad.mit.edu	37	16	84353101	84353101	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353101C>T	uc002fhv.3	+	3	663	c.486C>T	c.(484-486)tgC>tgT	p.C162C	WFDC1_uc002fhw.3_Silent_p.C162C	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	162					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GCTATGAGTGCCACATCCTGA	0.667000														128			49		0	0	1	0	0
CEP95	90799	broad.mit.edu	37	17	62530763	62530763	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62530763C>T	uc002jem.3	+	16	2036	c.1978C>T	c.(1978-1980)Cga>Tga	p.R660*	CEP95_uc002jen.3_Non-coding_Transcript|CEP95_uc010wqb.2_Nonsense_Mutation_p.R496*|CEP95_uc002jeo.1_Nonsense_Mutation_p.R92*	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	Homo sapiens centrosomal protein 95kDa (CEP95), mRNA.	660						centrosome|spindle pole	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AAAAGAAAATCGACAGCAAAT	0.413000														46			7		0	0	1	0	0
SLC3A1	6519	broad.mit.edu	37	2	44502742	44502742	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44502742G>T	uc002ruc.4	+	0	146	c.68G>T	c.(67-69)gGg>gTg	p.G23V	SLC3A1_uc002rty.3_Missense_Mutation_p.G23V|SLC3A1_uc002rtz.2_Missense_Mutation_p.G23V|SLC3A1_uc002rua.3_Missense_Mutation_p.G23V|SLC3A1_uc002rub.2_Missense_Mutation_p.G23V	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	23					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	L-cystine transmembrane transporter activity|basic amino acid transmembrane transporter activity|catalytic activity|cation binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	ACAAACAACGGGTTTGTCCAT	0.517000														62			12		0.00244969	0.00249783	1	1	0
FTSJD1	55783	broad.mit.edu	37	16	71318457	71318457	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71318457T>G	uc021tkr.1	-	0	1367	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FTSJD1_uc010cga.3_Missense_Mutation_p.K456T|FTSJD1_uc002ezy.4_Missense_Mutation_p.K456T|FTSJD1_uc002ezz.4_Missense_Mutation_p.K456T	NM_018348	NP_060818	Q8IYT2	FTSJ1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 1 (FTSJD1), transcript variant 1, mRNA.	456						integral to membrane	methyltransferase activity|nucleic acid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACTTTATCTTTCCATGAAAG	0.353000														70			14		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71069403	71069403	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71069403G>T	uc003xyn.1	-	10	1359	c.1197C>A	c.(1195-1197)agC>agA	p.S399R		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	399					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGCTGTTAGAGCTAATTGGAT	0.463000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									56			20		4.96729e-08	5.40616e-08	1	1	0
UNC80	285175	broad.mit.edu	37	2	210642102	210642102	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:210642102G>A	uc010zjc.1	+	3	499	c.419G>A	c.(418-420)aGc>aAc	p.S140N	UNC80_uc021vvx.1_Missense_Mutation_p.S140N|UNC80_uc002vdj.1_Missense_Mutation_p.S140N	NM_032504	NP_115893	Q8N2C7	UNC80_HUMAN	Homo sapiens unc-80 homolog (C. elegans) (UNC80), transcript variant 1, mRNA.	140						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CGAGGCTCCAGCTGGGGTGGA	0.552000														151			22		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265484	10265484	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10265484C>T	uc002gmk.1	-	4	546	c.456G>A	c.(454-456)ccG>ccA	p.P152P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	152	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.P152L(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGATGTGGGGCGGGGCCTCCT	0.502000														331			21		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732027	57732027	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57732027C>A	uc002emi.3	+	1	255	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	CCDC135_uc002emj.3_Missense_Mutation_p.L56M|CCDC135_uc002emk.3_Missense_Mutation_p.L56M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	56						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAGAAGAAGCTGTCAGAGAT	0.597000														94			22		1.28384e-07	1.38782e-07	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11152114	11152114	+	Silent	SNP	C	T	T	rs146747026		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11152114C>T	uc010dxp.3	+	30	4662	c.4302C>T	c.(4300-4302)gaC>gaT	p.D1434D	SMARCA4_uc010dxo.3_Silent_p.D1466D|SMARCA4_uc002mqf.4_Silent_p.D1434D|SMARCA4_uc010dxq.3_Silent_p.D1401D|SMARCA4_uc010dxr.3_Silent_p.D1401D|SMARCA4_uc002mqj.4_Silent_p.D1404D|SMARCA4_uc010dxs.3_Silent_p.D1404D|SMARCA4_uc002mqh.4_Silent_p.D524D	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1434					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCGACAAGGACGACGAGAGCA	0.612000			"""F, N, Mis"""		NSCLC									91			21		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64602876	64602876	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64602876C>A	uc001obs.4	-	15	1896	c.1896G>T	c.(1894-1896)gaG>gaT	p.E632D		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	632					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACAGAGCCTCCTCCTTACCAC	0.672000														588			116		7.82854e-59	1.00011e-58	1	1	0
CDH4	1002	broad.mit.edu	37	20	60427938	60427938	+	Silent	SNP	C	T	T	rs146532439	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60427938C>T	uc002ybn.2	+	5	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_uc002ybr.2_Silent_p.D250D|CDH4_uc002ybp.2_Silent_p.D213D	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	287	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding	p.V286M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597000														331			58		0	0	1	0	0
RALB	5899	broad.mit.edu	37	2	121047235	121047235	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:121047235C>T	uc002tmk.3	+	3	593	c.403C>T	c.(403-405)Cgg>Tgg	p.R135W	RALB_uc010yys.2_Missense_Mutation_p.R157W|RALB_uc002tml.3_Missense_Mutation_p.R156W|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	135					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	p.R135Q(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				CCTAGAGGAGCGGAGGCAGGT	0.547000														182			23		0	0	1	0	0
CCDC6	8030	broad.mit.edu	37	10	61554264	61554264	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61554264G>A	uc001jks.4	-	7	1429	c.1197C>T	c.(1195-1197)caC>caT	p.H399H		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	399						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TGTGCTGCACGTGAAGACCCG	0.478000			T	RET	NSCLC									97			22		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48611968	48611968	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48611968T>C	uc003ctz.2	-	77	6410	c.6409A>G	c.(6409-6411)Aaa>Gaa	p.K2137E		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2137	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGGTCTCCTTTGATGCCTGGC	0.622000														94			25		0	0	1	0	0
ANKRD49	54851	broad.mit.edu	37	11	94231498	94231498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94231498C>T	uc001pew.3	+	2	659	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN	Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA.	174					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AACAAAAGGCCTCTTGACCCC	0.493000														101			24		0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46365517	46365517	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:46365517C>T	uc002xto.3	-	2	675	c.345G>A	c.(343-345)tcG>tcA	p.S115S	SULF2_uc002xtr.3_Silent_p.S115S|SULF2_uc002xtq.3_Silent_p.S115S|SULF2_uc010ghv.1_Silent_p.S115S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	115					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCCAGGAGGGCGAGGAGCAGT	0.607000														86			20		0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671076	25671076	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25671076C>A	uc001upy.3	+	0	801	c.740C>A	c.(739-741)gCt>gAt	p.A247D		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	247	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GCACAGAAAGCTGTAGATGAG	0.423000														115			30		6.07407e-21	7.43637e-21	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222428879	222428879	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:222428879T>C	uc002vmq.3	-	2	437	c.395A>G	c.(394-396)gAc>gGc	p.D132G	EPHA4_uc002vmr.2_Missense_Mutation_p.D132G|EPHA4_uc010zlm.1_Missense_Mutation_p.D73G	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	132						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACGCTCTTTGTCGTTGTCTGA	0.443000														233			11		0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1064240	1064240	+	Silent	SNP	G	A	A	rs137938985	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1064240G>A	uc003jbu.3	-	18	2631	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	MIR4635_uc021xvy.1_5'Flank	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	855					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TGAGCATGCCGCCGTCGTGCA	0.687000														108			9		0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113407771	113407771	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113407771C>A	uc001tug.3	+	15	3344	c.3257C>A	c.(3256-3258)gCt>gAt	p.A1086D		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	1086					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CCCCAGGCTGCTGTGTGAAGT	0.502000														21			6		0.0215528	0.0217347	1	1	0
ZNF514	84874	broad.mit.edu	37	2	95818951	95818951	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95818951C>T	uc002sud.1	-	2	638	c.267G>A	c.(265-267)ggG>ggA	p.G89G	ZNF514_uc002sue.1_Silent_p.G16G	NM_032788	NP_116177	Q96K75	ZN514_HUMAN	Homo sapiens zinc finger protein 514 (ZNF514), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(6)|urinary_tract(1)	11						GGTTCAGCTGCCCCCACTCCC	0.517000														141			18		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52357823	52357823	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357823G>A	uc011bef.2	+	3	595	c.334_splice	c.e3-1	p.E112_splice	DNAH1_uc003ddt.1_Splice_Site_p.E112_splice	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	112	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.?(1)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TTTGGTTTCAGGAGGTATGTC	0.622000														19			3		0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102106440	102106440	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102106440C>T	uc003uzn.3	+	1	395	c.257C>T	c.(256-258)gCc>gTc	p.A86V	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	86					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GATGTTACTGCCTTGTGCCAG	0.627000														106			11		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614146	135614146	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614146C>T	uc003yup.3	-	5	2002	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	ZFAT_uc003yun.3_Missense_Mutation_p.A594T|ZFAT_uc003yuo.3_Missense_Mutation_p.A594T|ZFAT_uc010meh.3_Missense_Mutation_p.A594T|ZFAT_uc010mej.3_Missense_Mutation_p.A544T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A594T|ZFAT_uc003yur.3_Missense_Mutation_p.A594T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.A606T(1)|p.A594T(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGAGCCTCTGCGGAGGAGGTA	0.532000														124			27		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66660217	66660217	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66660217C>T	uc003tvn.3	+	14	2019	c.1870C>T	c.(1870-1872)Cat>Tat	p.H624Y	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Missense_Mutation_p.H238Y|PMS2P4_uc003tvo.2_Intron	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	624					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGTGCCCTGGCATGAGGAAGT	0.488000														163			24		0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173722355	173722355	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:173722355C>T	uc001gjc.3	+	4	939	c.760C>T	c.(760-762)Ctg>Ttg	p.L254L	KLHL20_uc010pmr.2_Silent_p.L65L|KLHL20_uc009wwf.3_Silent_p.L236L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	254	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CTCATAGGTGCTGCAGCATGT	0.428000														53			6		0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780826	24780826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24780826G>A	uc021rrp.1	+	0	956	c.956G>A	c.(955-957)cGc>cAc	p.R319H	CIDEB_uc001woo.3_5'Flank|CIDEB_uc001wop.3_5'Flank|LTB4R2_uc010alo.3_Missense_Mutation_p.R319H|LTB4R2_uc001wor.3_Missense_Mutation_p.R319H|LTB4R_uc001wos.3_5'UTR|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	350					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGGGGCGGCCGCTCTAGGGAA	0.677000														191			65		0	0	1	0	0
ITPKB	3707	broad.mit.edu	37	1	226835077	226835077	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226835077A>C	uc010pvo.2	-	3	2377	c.2037T>G	c.(2035-2037)agT>agG	p.S679R		NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	679							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CTGCCTTGAAACTCCCTGGAG	0.622000														51			9		0	0	1	0	0
C10orf88	80007	broad.mit.edu	37	10	124691977	124691977	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124691977T>C	uc001lgw.2	-	5	1529	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	C10orf88_uc001lgx.2_Missense_Mutation_p.D337G	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN	Homo sapiens chromosome 10 open reading frame 88 (C10orf88), mRNA.	435										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTCCAGAGTCATAATGTCT	0.378000														73			13		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036890	193036890	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193036890C>A	uc011bsq.2	-	16	1923	c.1923G>T	c.(1921-1923)aaG>aaT	p.K641N		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	641					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.P640H(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTGGGAAATTCTTGGGCACTG	0.483000														171			35		4.3949e-29	5.5243e-29	1	1	0
LOC100130331	100130331	broad.mit.edu	37	1	238090488	238090488	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:238090488C>A	uc010pyc.2	+	11		c.1994C>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GAGAAGATGACTCAGATCATG	0.592000														107			36		1.45844e-13	1.7027e-13	1	1	0
TRADD	8717	broad.mit.edu	37	16	67190432	67190432	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67190432A>G	uc002eri.1	-	1	212	c.132T>C	c.(130-132)gcT>gcC	p.A44A	TRADD_uc002erh.1_5'Flank|TRADD_uc010vjb.1_Silent_p.A44A	NM_003789	NP_003780	Q15628	TRADD_HUMAN	Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA.	44					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity	p.A44V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCCTGCAGAGCCCTGTACA	0.627000											OREG0023872	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			41		0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60814645	60814645	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60814645C>A	uc010dds.3	-	6	983	c.698G>T	c.(697-699)aGg>aTg	p.R233M	MARCH10_uc010ddr.3_Missense_Mutation_p.R195M|MARCH10_uc002jag.4_Missense_Mutation_p.R195M|MARCH10_uc002jah.2_Missense_Mutation_p.R194M|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Non-coding_Transcript	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	195							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTGATTTGGCCTCTTCAGCTT	0.468000														370			68		1.26778e-28	1.59256e-28	1	1	0
CCDC6	8030	broad.mit.edu	37	10	61572421	61572421	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61572421C>A	uc001jks.4	-	4	1051	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	273						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TCAGTTGCTTCTTCAGCCGTT	0.418000			T	RET	NSCLC									107			26		1.88708e-17	2.26542e-17	1	1	0
HACE1	57531	broad.mit.edu	37	6	105198220	105198220	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198220T>G	uc003pqu.1	-	19	2616	c.2339A>C	c.(2338-2340)gAa>gCa	p.E780A	HACE1_uc010kcy.1_Missense_Mutation_p.E262A|HACE1_uc010kcz.1_Missense_Mutation_p.E565A|HACE1_uc010kcx.1_Missense_Mutation_p.E189A|HACE1_uc003pqt.1_Missense_Mutation_p.E433A	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	780	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CCTTACCAATTCATATTCATC	0.343000														34			12		0	0	1	0	0
JMY	133746	broad.mit.edu	37	5	78611996	78611996	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78611996G>T	uc003kfx.4	+	9	3382	c.2833G>T	c.(2833-2835)Gaa>Taa	p.E945*		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	945					'de novo' actin filament nucleation|Arp2/3 complex-mediated actin nucleation|DNA repair|actin polymerization-dependent cell motility|cell cycle arrest|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		TGTTTTGAGAGAATCCTTCAC	0.413000														65			20		1.64113e-05	1.72175e-05	1	1	0
RNF168	165918	broad.mit.edu	37	3	196214437	196214437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196214437G>A	uc003fwq.3	-	2	986	c.391C>T	c.(391-393)Cga>Tga	p.R131*	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	131	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGCCCGTCGCTCTGCCGCC	0.398000														136			27		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6733205	6733205	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6733205G>T	uc002mfp.3	-	8	877	c.831C>A	c.(829-831)ttC>ttA	p.F277L	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	277						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TGGACACCCAGAAGATGCCAG	0.622000														199			55		5.73376e-24	7.11346e-24	1	1	0
GAS8	2622	broad.mit.edu	37	16	90102049	90102049	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:90102049C>T	uc002fqi.1	+	4	626	c.504C>T	c.(502-504)acC>acT	p.T168T	GAS8_uc010vps.1_Silent_p.T143T|GAS8_uc002fqh.2_Silent_p.T85T|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Silent_p.T85T|GAS8_uc010vpv.1_Silent_p.T139T|GAS8_uc010cjc.1_Silent_p.T85T|GAS8_uc010vpw.1_Silent_p.T85T|GAS8_uc002fqj.1_Intron	NM_001481	NP_001472	O95995	GAS8_HUMAN	Homo sapiens growth arrest-specific 8 (GAS8), transcript variant 1, mRNA.	168	Microtubule-binding.				negative regulation of cell proliferation|sperm motility	Golgi apparatus|cilium|microtubule|microtubule basal body|microtubule-based flagellum	protein binding			endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		AGAAACACACCGAGGAGATCA	0.562000														174			42		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12309338	12309338	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12309338C>A	uc001atv.3	+	5	647	c.506C>A	c.(505-507)cCt>cAt	p.P169H	VPS13D_uc001atw.3_Missense_Mutation_p.P169H	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	169					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCCTCCCATCCTTTTGCTTTT	0.413000														67			6		5.9392e-07	6.36579e-07	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129793151	129793151	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129793151G>A	uc001qfm.3	-	13	2270	c.2038C>T	c.(2038-2040)Caa>Taa	p.Q680*	PRDM10_uc001qfj.3_Nonsense_Mutation_p.Q594*|PRDM10_uc001qfk.3_Nonsense_Mutation_p.Q590*|PRDM10_uc001qfl.3_Nonsense_Mutation_p.Q594*|PRDM10_uc010sbx.2_Nonsense_Mutation_p.Q590*|PRDM10_uc001qfn.3_Nonsense_Mutation_p.Q676*	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	680					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ACCTTAAATTGCTTCCCACAG	0.507000											OREG0021513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			4		0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183777674	183777674	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183777674C>T	uc003fmk.3	+	7	1018	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	328						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACCGTCTTCATTACCTACC	0.572000														150			42		0	0	1	0	0
SMC1A	8243	broad.mit.edu	37	X	53439881	53439881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53439881G>A	uc004dsg.3	-	4	892	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	SMC1A_uc011moe.2_Missense_Mutation_p.R253W|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	275					DNA repair|cell cycle checkpoint|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						tgctgctcccgcatcattttg	0.507000														45			16		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9971444	9971444	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9971444G>A	uc002mmp.3	-	1	118	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	30						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACAGCTGCCAGCCCTCTTCTG	0.632000														27			8		0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148311388	148311388	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148311388C>T	uc003wew.3	+	2	820	c.459_splice	c.e2+1	p.N153_splice		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	153										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			CATACCTAAACGTAAGCTCCG	0.458000														132			7		0	0	1	0	0
BAIAP2	10458	broad.mit.edu	37	17	79059520	79059520	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79059520C>A	uc002jzg.2	+	4	454	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	BAIAP2_uc002jyz.4_Missense_Mutation_p.L116M|BAIAP2_uc002jza.2_Missense_Mutation_p.L116M|BAIAP2_uc002jzc.2_Missense_Mutation_p.L116M|BAIAP2_uc002jzb.2_Intron|BAIAP2_uc010wuh.1_Missense_Mutation_p.L38M|BAIAP2_uc002jzd.2_Missense_Mutation_p.L116M|BAIAP2_uc002jzf.2_Missense_Mutation_p.L116M|BAIAP2_uc002jze.2_Missense_Mutation_p.L149M|BAIAP2_uc002jzh.2_Missense_Mutation_p.L117M	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	116	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CTCCAGGTATCTGAGTGTAAG	0.597000														90			19		4.96729e-08	5.40616e-08	1	1	0
RTN2	6253	broad.mit.edu	37	19	45996450	45996450	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45996450C>A	uc002pcb.3	-	4	1231	c.1001G>T	c.(1000-1002)aGc>aTc	p.S334I	RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	334						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GAGTGAGAGGCTGGGGACACC	0.637000														350			62		6.12789e-21	7.50099e-21	1	1	0
GPR148	344561	broad.mit.edu	37	2	131486811	131486811	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131486811C>A	uc002trv.2	+	0	169	c.87C>A	c.(85-87)ccC>ccA	p.P29P		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	29				CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196).		integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CCTGCATGCCCCAAGCAGCCA	0.632000														256			34		1.99505e-19	2.42313e-19	1	1	0
C9orf78	51759	broad.mit.edu	37	9	132590482	132590482	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132590482G>T	uc004byp.3	-	8	900	c.828C>A	c.(826-828)gaC>gaA	p.D276E	C9orf78_uc004byo.3_Missense_Mutation_p.T191N	NM_016520	NP_057604	Q9NZ63	CI078_HUMAN	Homo sapiens chromosome 9 open reading frame 78 (C9orf78), mRNA.	276										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				CATAATGATAGTCATCAGTTG	0.478000														186			36		3.21399e-22	3.95801e-22	1	1	0
APEH	327	broad.mit.edu	37	3	49719835	49719835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49719835G>A	uc010hkw.1	+	17	2058	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D	APEH_uc003cxf.3_Missense_Mutation_p.G553D	NM_001640	NP_001631	P13798	ACPH_HUMAN	Homo sapiens N-acylaminoacyl-peptide hydrolase (APEH), mRNA.	553					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTCCCAGGCAATGTGGGC	0.607000														83			19		0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65302805	65302805	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65302805C>T	uc001oea.1	+	9	1415	c.1338C>T	c.(1336-1338)tgC>tgT	p.C446C	SCYL1_uc009yqk.3_Silent_p.C446C|SCYL1_uc001oeb.1_Silent_p.C446C|SCYL1_uc001oec.1_Silent_p.C446C|SCYL1_uc001oee.1_Silent_p.C90C	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	446					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						CCATCCGCTGCAACACCACAG	0.602000														193			36		0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824572	54824572	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54824572C>T	uc002xxb.2	+	0	785	c.673C>T	c.(673-675)Cca>Tca	p.P225S		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	262					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			AGCAGCACTGCCACCTGCCGA	0.597000														156			31		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564791	142564791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142564791G>A	uc011kst.2	+	10	2502	c.1715G>A	c.(1714-1716)gGg>gAg	p.G572E	EPHB6_uc011ksu.2_Missense_Mutation_p.G572E|EPHB6_uc003wbs.3_Missense_Mutation_p.G280E|EPHB6_uc003wbt.3_Missense_Mutation_p.G46E|EPHB6_uc003wbu.3_Missense_Mutation_p.G280E|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	572	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCCCTACGGGGGCAAAGTC	0.637000														135			32		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749012	2749012	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749012G>A	uc003jda.3	-	2	1052	c.810C>T	c.(808-810)gaC>gaT	p.D270D	IRX2_uc003jdb.3_Silent_p.D270D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	270						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGCCCTCCTCGTCGTCGTCCT	0.731000														58			13		0	0	1	0	0
TCF7L2	6934	broad.mit.edu	37	10	114918429	114918429	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114918429A>G	uc021pyi.1	+	12	1829	c.1322A>G	c.(1321-1323)cAc>cGc	p.H441R	TCF7L2_uc001lah.3_Missense_Mutation_p.H423R|TCF7L2_uc010qro.2_Intron|TCF7L2_uc001lae.4_Intron|TCF7L2_uc010qrm.2_Intron|TCF7L2_uc010qrn.2_Intron|TCF7L2_uc021pyg.1_Missense_Mutation_p.H157R|TCF7L2_uc021pyh.1_Missense_Mutation_p.H423R|TCF7L2_uc021pyj.1_Missense_Mutation_p.H441R|TCF7L2_uc021pyk.1_Intron|TCF7L2_uc021pyl.1_Intron|TCF7L2_uc010qrp.2_Missense_Mutation_p.H418R|TCF7L2_uc021pym.1_Intron|TCF7L2_uc021pyn.1_Intron|TCF7L2_uc021pyo.1_Intron|TCF7L2_uc021pyp.1_Intron|TCF7L2_uc010qrq.2_Missense_Mutation_p.H414R|TCF7L2_uc001lac.4_Missense_Mutation_p.H418R|TCF7L2_uc010qrk.2_Missense_Mutation_p.H418R|TCF7L2_uc001lad.4_Missense_Mutation_p.H414R|TCF7L2_uc001lag.4_Intron|TCF7L2_uc001laf.4_Intron|TCF7L2_uc010qrl.2_Intron|TCF7L2_uc010qrr.2_Missense_Mutation_p.H356R|TCF7L2_uc010qrs.2_Missense_Mutation_p.H312R|TCF7L2_uc010qrt.2_Missense_Mutation_p.H312R|TCF7L2_uc010qru.2_Missense_Mutation_p.H340R|TCF7L2_uc010qrv.2_Missense_Mutation_p.H258R|TCF7L2_uc010qrw.2_Missense_Mutation_p.H145R|TCF7L2_uc010qrx.2_Missense_Mutation_p.H298R	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	441					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TTTTCAGAACACAGCGAATGT	0.338000			T	VTI1A	colorectal									49			13		0	0	1	0	0
CILP2	148113	broad.mit.edu	37	19	19655592	19655592	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19655592C>T	uc002nmw.4	+	7	2341	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	CILP2_uc002nmv.4_Silent_p.N746N	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	746						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CCTACGCCAACGACAAGTTCA	0.687000														88			15		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640459	3640459	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640459C>T	uc002cvp.2	-	11	3807	c.3180G>A	c.(3178-3180)cgG>cgA	p.R1060R		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1060	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	p.R1060W(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CGCCACGGGACCGGGGTGTTG	0.632000								Direct reversal of damage						295			76		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099772	128099772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099772C>T	uc004bpp.3	+	15	3020	c.2860C>T	c.(2860-2862)Cga>Tga	p.R954*	GAPVD1_uc011lzs.1_Nonsense_Mutation_p.R927*|GAPVD1_uc004bpq.3_Nonsense_Mutation_p.R927*|GAPVD1_uc010mwx.3_Nonsense_Mutation_p.R927*|GAPVD1_uc004bpr.3_Nonsense_Mutation_p.R906*|GAPVD1_uc004bps.3_Nonsense_Mutation_p.R927*|GAPVD1_uc010mwy.1_Nonsense_Mutation_p.R760*	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	927					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AAATGAAGAGCGAGAACTCCC	0.537000														111			20		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109605787	109605787	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109605787G>A	uc001tob.3	+	3	992	c.873G>A	c.(871-873)cgG>cgA	p.R291R	ACACB_uc001toc.3_Silent_p.R291R	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	291	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.E290K(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCAACGAGCGGGCCATCCGGT	0.602000														119			25		0	0	1	0	0
TMEM200C	645369	broad.mit.edu	37	18	5891977	5891977	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:5891977C>T	uc002kmx.1	-	0	127	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	Homo sapiens transmembrane protein 200C (TMEM200C), mRNA.	29						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						CTTGGCTTTCCGCTTGCGCTT	0.612000														78			23		0	0	1	0	0
HSD3B7	80270	broad.mit.edu	37	16	30999413	30999413	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30999413G>A	uc002eaf.2	+	6	1125	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	HSD3B7_uc010cac.2_3'UTR|HSD3B7_uc002eag.2_3'UTR|HSD3B7_uc002eah.2_Missense_Mutation_p.R340H	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	340					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	p.R340L(2)|p.R340C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AAGGCTCAGCGCCATTTCGGC	0.647000														112			17		0	0	1	0	0
HACE1	57531	broad.mit.edu	37	6	105198346	105198346	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105198346G>A	uc003pqu.1	-	20	2489	c.2212_splice	c.e20-1	p.A738_splice	HACE1_uc010kcy.1_Splice_Site_p.A220_splice|HACE1_uc010kcz.1_Splice_Site_p.A523_splice|HACE1_uc010kcx.1_Splice_Site_p.A147_splice|HACE1_uc003pqt.1_Splice_Site_p.A391_splice	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	738	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GACGTACTCCGCCTGTTGAAA	0.338000														45			17		0	0	1	0	0
ACSS2	55902	broad.mit.edu	37	20	33509141	33509141	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33509141G>A	uc010gey.2	+	11	1446	c.1325G>A	c.(1324-1326)cGg>cAg	p.R442Q	ACSS2_uc002xbc.2_Missense_Mutation_p.R334Q|ACSS2_uc010zum.1_Intron|ACSS2_uc002xbd.2_Missense_Mutation_p.R429Q|ACSS2_uc002xbe.2_Missense_Mutation_p.R137Q	NM_001076552	NP_001070020	Q9NR19	ACSA_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 2 (ACSS2), transcript variant 2, mRNA.	429					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	ATP binding|acetate-CoA ligase activity|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGCATAGCCGGGCATCCTTG	0.592000														151			24		0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312288	31312288	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:31312288A>C	uc001msv.3	-	6	1104	c.866T>G	c.(865-867)cTt>cGt	p.L289R	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	289					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCTCTCAGTAAGTTTCTTCAT	0.378000														70			8		0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136337292	136337292	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136337292A>C	uc004cee.3	-	9	1470	c.1375T>G	c.(1375-1377)Ttc>Gtc	p.F459V	SLC2A6_uc004cef.3_Missense_Mutation_p.F397V|SLC2A6_uc004ceg.3_Missense_Mutation_p.F436V	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	459						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGGAGGCCGAAGGTGCTCTGC	0.657000														109			33		0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053102	44053102	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:44053102C>A	uc001jaw.4	-	1	1079	c.426G>T	c.(424-426)caG>caT	p.Q142H	ZNF239_uc001jax.4_Missense_Mutation_p.Q142H|ZNF239_uc009xmj.3_Missense_Mutation_p.Q142H|ZNF239_uc009xmk.3_Missense_Mutation_p.Q142H|ZNF239_uc021pph.1_Missense_Mutation_p.Q142H	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATTCTTTTAACTGGCCATTCT	0.448000														121			20		5.35267e-07	5.74308e-07	1	1	0
GBP2	2634	broad.mit.edu	37	1	89575855	89575855	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89575855G>A	uc001dmz.1	-	8	1728	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	486					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ACCTTCAATCGCTTTTTCCTT	0.413000														91			11		0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173873248	173873248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:173873248C>T	uc003isv.3	+	9	1946	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	404						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TTACCAGCGGCGGCCGGAGTA	0.512000														127			27		0	0	1	0	0
SNX29	92017	broad.mit.edu	37	16	12450028	12450028	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:12450028G>T	uc002dby.4	+	15	1853	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	212					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGTGGCAGAGATGCATGGCG	0.587000														34			16		1.02788e-11	1.17486e-11	1	1	0
CUL3	8452	broad.mit.edu	37	2	225362504	225362504	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225362504T>C	uc010fwy.1	-	11	1744	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	CUL3_uc010zls.1_Missense_Mutation_p.D492G|CUL3_uc002vny.2_Missense_Mutation_p.D558G	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	558					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GGCATTGAGATCTGCAGAACC	0.358000														106			24		0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101877361	101877361	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:101877361G>T	uc003uys.4	+	21	3623	c.3496G>T	c.(3496-3498)Ggg>Tgg	p.G1166W	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.G1155W	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1155					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACCATCTTAGGGCTCACCCA	0.557000														150			25		3.6726e-16	4.37102e-16	1	1	0
TP53BP2	7159	broad.mit.edu	37	1	223983554	223983554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:223983554C>T	uc001hod.3	-	13	3111	c.2300G>A	c.(2299-2301)cGc>cAc	p.R767H	TP53BP2_uc010pvb.2_Missense_Mutation_p.R896H|TP53BP2_uc010puz.2_Missense_Mutation_p.R129H|TP53BP2_uc010pva.2_Missense_Mutation_p.R535H	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	890					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding	p.R767C(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TTCAGGCGGGCGCATGCTCAC	0.537000														143			35		0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3644083	3644083	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3644083A>G	uc002lyj.2	-	12	1599	c.1510_splice	c.e12+1	p.G504_splice	PIP5K1C_uc010xhq.2_Splice_Site_p.G504_splice|PIP5K1C_uc010xhr.2_Splice_Site_p.G504_splice	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	504					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		TCTGCCCCTCACCTTCGTCCT	0.711000														193			36		0	0	1	0	0
AP3B2	8120	broad.mit.edu	37	15	83335598	83335598	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83335598G>T	uc010uoi.2	-	14	1930	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	AP3B2_uc010uoh.2_Missense_Mutation_p.L585I|AP3B2_uc010uoj.2_Missense_Mutation_p.L553I|AP3B2_uc010uog.2_Missense_Mutation_p.L221I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 2 subunit (AP3B2), mRNA.	585					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	COPI-coated vesicle|clathrin coated vesicle membrane|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGGACGATGAGCTGCCGGGTG	0.587000														190			43		6.5261e-18	7.85662e-18	1	1	0
DYM	54808	broad.mit.edu	37	18	46808509	46808509	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:46808509A>T	uc002ldi.1	-	9	1348	c.983T>A	c.(982-984)tTc>tAc	p.F328Y	DYM_uc010xdf.1_Missense_Mutation_p.F138Y|DYM_uc002ldj.3_Missense_Mutation_p.F150Y	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	328						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GTTGATCTGGAAGGCATGTGG	0.363000														73			9		0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49841720	49841720	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49841720A>C	uc001vcu.3	+	4	652	c.525A>C	c.(523-525)aaA>aaC	p.K175N	CDADC1_uc001vcs.2_Non-coding_Transcript|CDADC1_uc001vct.2_Missense_Mutation_p.K57N|CDADC1_uc021rjm.1_Missense_Mutation_p.K175N|CDADC1_uc010tgk.2_5'UTR|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	175							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TAGATGCCAAAGCAGTGGAAA	0.433000														88			9		0	0	1	0	0
SEPT10	151011	broad.mit.edu	37	2	110323436	110323436	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:110323436C>A	uc002tey.3	-	7	1142	c.763_splice	c.e7-1	p.G255_splice	SEPT10_uc010ywu.1_Splice_Site_p.G88_splice|SEPT10_uc002tew.3_Splice_Site_p.G255_splice|SEPT10_uc002tex.3_Splice_Site_p.G232_splice|SEPT10_uc010ywv.2_Splice_Site_p.G121_splice|SEPT10_uc002tev.1_Splice_Site_p.G62_splice|SEPT10_uc010fjo.3_Splice_Site|SEPT10_uc002tez.1_Splice_Site_p.G30_splice	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	255					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCAACTGTCCCTGAAAAAGA	0.388000														205			21		7.41877e-09	8.17068e-09	1	1	0
RACGAP1	29127	broad.mit.edu	37	12	50399109	50399109	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50399109C>T	uc001rvt.2	-	5	665	c.355G>A	c.(355-357)Gag>Aag	p.E119K	RACGAP1_uc009zlm.1_Missense_Mutation_p.E119K|RACGAP1_uc001rvs.2_Missense_Mutation_p.E119K|RACGAP1_uc001rvu.2_Missense_Mutation_p.E119K	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	119	Interaction with SLC26A8.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	GTPase activator activity|alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TTTTGCTCCTCGCTTAGTTGA	0.448000														87			15		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27473805	27473805	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27473805T>C	uc002dov.2	-	35	5967	c.5927A>G	c.(5926-5928)gAc>gGc	p.D1976G	GTF3C1_uc002dou.3_Missense_Mutation_p.D1951G	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1976						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						ACTCTCACAGTCCCTGCAGGG	0.627000														60			11		0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154146651	154146651	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154146651A>G	uc003faa.3	-	0	854	c.754T>C	c.(754-756)Tcc>Ccc	p.S252P		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	252						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTCTGGGGACAGGGAAACC	0.662000														122			29		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123047580	123047580	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123047580G>A	uc003egh.2	-	5	1716	c.1716C>T	c.(1714-1716)tgC>tgT	p.C572C	ADCY5_uc021xdd.1_Silent_p.C222C|ADCY5_uc003egg.2_Silent_p.C205C|ADCY5_uc003egi.1_Silent_p.C131C	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	572	Guanylate cyclase 1.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CAAGGACACCGCAGTGTACTC	0.592000											OREG0015742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		168			40		0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10323446	10323446	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10323446C>T	uc002gmm.2	-	2	194	c.99G>A	c.(97-99)ccG>ccA	p.P33P	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	33	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TAGCATCAAACGGCTTGTTTT	0.483000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					228			59		0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205272760	205272760	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205272760G>A	uc001hce.3	-	6	1832	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	569					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R569W(2)|p.R569R(1)		breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ACACAGCCCCGCAGTGGGGGC	0.667000														151			40		0	0	1	0	0
AK022382	0	broad.mit.edu	37	10	52390538	52390538	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:52390538C>T	uc001jjf.1	+	1		c.1231C>T								Homo sapiens cDNA FLJ12320 fis, clone MAMMA1002082.																		TGCTGAAACACTCCTGATCGT	0.448000														59			9		0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39249909	39249909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39249909G>A	uc002rrk.4	-	9	1701	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.L168F|SOS1_uc002rrl.3_Missense_Mutation_p.L286F	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	554					Ras protein signal transduction|apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	cytosol	DNA binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				GTTACATCAAGCATCCTTTCC	0.398000									Noonan syndrome					107			31		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6239851	6239851	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6239851C>A	uc001mck.4	-	7	1773	c.1414G>T	c.(1414-1416)Gag>Tag	p.E472*	FAM160A2_uc001mcl.4_Nonsense_Mutation_p.E472*|FAM160A2_uc001mcm.2_Nonsense_Mutation_p.E472*	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	472					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGGCATGCTCTGGACGAGGT	0.607000														301			73		1.64915e-30	2.07716e-30	1	1	0
CASP8	841	broad.mit.edu	37	2	202150030	202150030	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202150030C>T	uc002uxr.1	+	8	1503	c.1294C>T	c.(1294-1296)Cga>Tga	p.R432*	CASP8_uc002uxq.1_Nonsense_Mutation_p.R417*|CASP8_uc002uxp.1_Nonsense_Mutation_p.R449*|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Nonsense_Mutation_p.R491*|CASP8_uc002uxw.1_Nonsense_Mutation_p.R417*|CASP8_uc010ftf.2_Nonsense_Mutation_p.R348*	NM_033355	NP_203519	Q14790	CASP8_HUMAN	Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA.	432					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding	p.R449*(2)|p.R491*(2)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CCTGAGAGAGCGATGTCCTCG	0.507000										HNSCC(4;0.00038)				121			34		0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148705663	148705663	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:148705663A>C	uc002twj.3	-	8	889	c.719T>G	c.(718-720)tTt>tGt	p.F240C	ORC4_uc021vqr.1_Missense_Mutation_p.F240C|ORC4_uc002twi.3_Missense_Mutation_p.F240C|ORC4_uc010zbo.2_Missense_Mutation_p.F166C|ORC4_uc010zbq.2_Missense_Mutation_p.F156C|ORC4_uc010zbp.2_Missense_Mutation_p.F23C|ORC4_uc002twk.3_Missense_Mutation_p.F240C|ORC4_uc010zbr.2_Missense_Mutation_p.F240C	NM_002552	NP_001177810	O43929	ORC4_HUMAN	Homo sapiens origin recognition complex, subunit 4 (ORC4), transcript variant 2, mRNA.	240					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTTGTCTGGAAACTCTGCAGG	0.323000														77			9		0	0	1	0	0
RHOH	399	broad.mit.edu	37	4	40245403	40245403	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40245403G>T	uc003guz.2	+	2	1121	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	RHOH_uc021xnp.1_Missense_Mutation_p.A133S	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	133					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGCGTCAATGCCATGGAAGG	0.602000														114			23		2.39556e-15	2.83283e-15	1	1	0
AP4E1	23431	broad.mit.edu	37	15	51293373	51293373	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51293373G>T	uc001zyx.2	+	19	3353	c.3246G>T	c.(3244-3246)gaG>gaT	p.E1082D	AP4E1_uc021skz.1_Missense_Mutation_p.E1007D|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1082					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		ATATTATTGAGATTATAGGTT	0.328000														64			17		1.67942e-08	1.84125e-08	1	1	0
SMARCAL1	50485	broad.mit.edu	37	2	217315692	217315692	+	Missense_Mutation	SNP	C	T	T	rs148893764		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217315692C>T	uc002vgc.4	+	11	2305	c.1975C>T	c.(1975-1977)Cgc>Tgc	p.R659C	SMARCAL1_uc002vgd.4_Missense_Mutation_p.R659C|SMARCAL1_uc010fvg.3_Missense_Mutation_p.R637C	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	659					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TGCCAAGCAGCGCAAGATAGT	0.587000									Schimke Immuno-Osseous Dysplasia					109			47		0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236343188	236343188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236343188G>A	uc001hxq.3	+	3	788	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	233						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GGGCTCCTCCGTGTGTCAAGT	0.552000														257			76		0	0	1	0	0
DUSP22	56940	broad.mit.edu	37	6	345913	345913	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:345913G>A	uc003msx.3	+	4	687	c.248G>A	c.(247-249)aGc>aAc	p.S83N	DUSP22_uc011dhn.1_Missense_Mutation_p.S83N|DUSP22_uc003msy.1_Missense_Mutation_p.S40N	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	83	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			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)		CGCGGTGAGAGCTGCCTTGTA	0.433000														95			14		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300442	88300442	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300442A>C	uc001pcq.3	-	6	2609	c.2409T>G	c.(2407-2409)tgT>tgG	p.C803W	GRM5_uc009yvm.3_Missense_Mutation_p.C803W	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	803					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TGACCGAGAAACACATGGTGA	0.502000														146			31		0	0	1	0	0
WASF2	10163	broad.mit.edu	37	1	27741358	27741358	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27741358C>T	uc001bof.2	-	5	862	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	WASF2_uc010ofl.2_Missense_Mutation_p.V213M	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN	Homo sapiens WAS protein family, member 2 (WASF2), transcript variant 1, mRNA.	213					G-protein signaling, coupled to cAMP nucleotide second messenger|actin cytoskeleton organization	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGGACTCCACAAATTCTTGC	0.443000														186			9		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128489453	128489453	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128489453G>A	uc003vnz.4	+	29	5229	c.5020G>A	c.(5020-5022)Ggt>Agt	p.G1674S	FLNC_uc003voa.4_Missense_Mutation_p.G1674S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1674					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGGCAGCCGGTGAGGGGAA	0.607000														109			19		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8926341	8926341	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8926341G>T	uc002qzc.2	-	15	2116	c.1934C>A	c.(1933-1935)aCt>aAt	p.T645N	KIDINS220_uc010yiv.1_Missense_Mutation_p.T411N|KIDINS220_uc002qzd.2_Missense_Mutation_p.T603N|KIDINS220_uc010yiw.1_Missense_Mutation_p.T646N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	645	KAP NTPase.				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTACCCTGAGTATCTTCAGT	0.423000														158			63		1.07751e-37	1.36785e-37	1	1	0
USP20	10868	broad.mit.edu	37	9	132642473	132642473	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132642473G>A	uc004bys.2	+	24	2877	c.2666G>A	c.(2665-2667)cGc>cAc	p.R889H	USP20_uc004byr.2_Missense_Mutation_p.R889H|USP20_uc004byt.1_Missense_Mutation_p.R889H	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	889	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				ATTGCCATCCGCCAGAGTGTG	0.632000														81			23		0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921496	78921496	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78921496C>A	uc002bed.1	-	4	1263	c.1151G>T	c.(1150-1152)gGg>gTg	p.G384V	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.G202V	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	384					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CATGGAGTTCCCATAGAAGTT	0.647000														81			18		3.32936e-07	3.57961e-07	1	1	0
KAT5	10524	broad.mit.edu	37	11	65481297	65481297	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65481297C>T	uc001ofi.3	+	6	835	c.569C>T	c.(568-570)tCg>tTg	p.S190L	KAT5_uc001ofj.3_Missense_Mutation_p.S138L|KAT5_uc001ofk.3_Missense_Mutation_p.S223L|KAT5_uc010roo.2_Missense_Mutation_p.S171L|KAT5_uc001ofl.3_5'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	190					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|androgen receptor signaling pathway|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						AAGCGAAAATCGAATTGTTTG	0.542000														29			6		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720739	146720739	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146720739T>G	uc010khw.1	+	7	3034	c.2564T>G	c.(2563-2565)gTt>gGt	p.V855G	GRM1_uc010khv.1_Missense_Mutation_p.V855G|GRM1_uc003qll.2_Missense_Mutation_p.V855G|GRM1_uc011edz.1_Missense_Mutation_p.V855G|GRM1_uc011eea.1_Missense_Mutation_p.V855G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	855					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.D854N(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACCTCTGATGTTGTCCGCATG	0.532000														79			24		0	0	1	0	0
SUV39H2	79723	broad.mit.edu	37	10	14939493	14939493	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:14939493T>G	uc021png.1	+	2	932	c.826T>G	c.(826-828)Ttt>Gtt	p.F276V	SUV39H2_uc001ing.3_Intron|SUV39H2_uc001inh.3_Missense_Mutation_p.F216V|SUV39H2_uc001ini.3_Missense_Mutation_p.F216V|SUV39H2_uc021pnh.1_Intron|SUV39H2_uc001inj.3_Missense_Mutation_p.F216V	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	276	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding	p.N276S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						AAGAATGAGTTTTGTCATGGA	0.373000														103			15		0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39877623	39877623	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39877623C>A	uc003opb.3	-	7	1196	c.1058G>T	c.(1057-1059)aGa>aTa	p.R353I	MOCS1_uc003opa.3_Missense_Mutation_p.R353I|MOCS1_uc003opd.3_Missense_Mutation_p.R353I|MOCS1_uc003ope.3_Missense_Mutation_p.R266I	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	353	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCAATGATTCTCAGCAGCTC	0.602000														243			57		9.72345e-25	1.2097e-24	1	1	0
DOCK3	1795	broad.mit.edu	37	3	51264771	51264771	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51264771C>A	uc011bds.2	+	15	1458	c.1435C>A	c.(1435-1437)Ctc>Atc	p.L479I		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	479	DHR-1.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.L468I(1)|p.L479I(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTCCTTTGTCCTCTACCACAG	0.478000														192			44		4.67007e-22	5.74789e-22	1	1	0
OR6C70	390327	broad.mit.edu	37	12	55863420	55863420	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55863420G>T	uc010spn.2	-	0	503	c.503C>A	c.(502-504)gCt>gAt	p.A168D		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GATATTTGAAGCACAGAAATC	0.353000														99			19		1.33834e-09	1.48855e-09	1	1	0
CD248	57124	broad.mit.edu	37	11	66083499	66083499	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66083499C>T	uc001ohm.1	-	0	1017	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	334	EGF-like; calcium-binding (Potential).					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAATAACACTCGAAGCCACCA	0.607000														92			19		0	0	1	0	0
DGKE	8526	broad.mit.edu	37	17	54939214	54939214	+	Silent	SNP	C	T	T	rs117438162	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:54939214C>T	uc002iur.3	+	9	1527	c.1347C>T	c.(1345-1347)atC>atT	p.I449I	DGKE_uc002ius.1_Silent_p.I449I	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	449					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTCTGAACATCGGATACTGGG	0.458000														219			62		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54420803	54420803	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:54420803T>C	uc003dhf.3	+	4	429	c.381_splice	c.e4+2	p.Q127_splice	CACNA2D3_uc011beu.1_Splice_Site|CACNA2D3_uc003dhg.1_Splice_Site_p.Q33_splice|CACNA2D3_uc003dhh.1_Splice_Site|CACNA2D3_uc010hmv.1_Splice_Site	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	127						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GACTTACAGGTAACTGATTAT	0.383000														17			3		0	0	1	0	0
LRRC8D	55144	broad.mit.edu	37	1	90399638	90399638	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90399638C>T	uc021opq.1	+	0	1011	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	LRRC8D_uc001dnm.3_Silent_p.H337H|LRRC8D_uc001dnn.3_Silent_p.H337H	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	337						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GCTTTGAACACGTCTGCAAGC	0.383000														143			23		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245530471	245530471	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245530471A>C	uc001ibf.1	+	2	1241	c.801A>C	c.(799-801)aaA>aaC	p.K267N	KIF26B_uc010pyq.1_Missense_Mutation_p.K267N|KIF26B_uc010pyr.2_Missense_Mutation_p.K67N	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	267					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACGGCAGCAAACCCAGCAGCC	0.642000														16			7		0	0	1	0	0
NT5C	30833	broad.mit.edu	37	17	73126651	73126651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73126651G>A	uc002jmx.3	-	4	626	c.538C>T	c.(538-540)Ctg>Ttg	p.L180L	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Silent_p.L140L	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	180					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAGAGCAGCCGTCTCCTT	0.617000											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		188			53		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885650	39885650	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:39885650C>T	uc001zkh.3	+	18	3227	c.3048C>T	c.(3046-3048)acC>acT	p.T1016T	THBS1_uc010bbi.3_Silent_p.T488T	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	1016	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TCATCAACACCGAAAGGGACG	0.493000														379			71		0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200377323	200377323	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200377323C>T	uc001gve.3	-	1	1618	c.1511G>A	c.(1510-1512)gGc>gAc	p.G504D	ZNF281_uc001gvf.1_Missense_Mutation_p.G504D|ZNF281_uc001gvg.1_Missense_Mutation_p.G468D|ZNF281_uc021phb.1_Missense_Mutation_p.G504D	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	504					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TGATACTATGCCAAGTGAGCC	0.383000														114			26		0	0	1	0	0
KRTAP20-2	337976	broad.mit.edu	37	21	32007688	32007688	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:32007688G>T	uc011adg.2	+	0	106	c.106G>T	c.(106-108)Ggc>Tgc	p.G36C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	36						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGAGGCCTGGGCTGTGGCTA	0.547000														254			11		1.58986e-06	1.69271e-06	1	1	0
PRKAR1A	5573	broad.mit.edu	37	17	66520194	66520194	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66520194G>A	uc002jhg.3	+	4	658	c.478G>A	c.(478-480)Gca>Aca	p.A160T	PRKAR1A_uc002jhh.3_Missense_Mutation_p.A160T|PRKAR1A_uc002jhi.3_Missense_Mutation_p.A160T|PRKAR1A_uc002jhj.3_Missense_Mutation_p.A160T|PRKAR1A_uc002jhk.3_Missense_Mutation_p.A36T|PRKAR1A_uc002jhl.3_Missense_Mutation_p.A160T	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	160					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					CTCCTTTATCGCAGGAGAGAC	0.418000			"""T, Mis, N, F, S"""	RET	papillary thyroid	"""myxoma, endocrine, papillary thyroid"""			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of					121			18		0	0	1	0	0
TTC5	91875	broad.mit.edu	37	14	20767555	20767555	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20767555C>T	uc001vwt.3	-	3	506	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	TTC5_uc001vwu.3_Missense_Mutation_p.R7Q	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	150					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGTGTCAGTCCGCAGCTGACG	0.502000														125			12		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90402593	90402593	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90402593G>A	uc003pnn.1	-	62	10272	c.10156C>T	c.(10156-10158)Ctg>Ttg	p.L3386L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3386					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCTCTGACAGCCGCTTCCGG	0.582000														111			11		0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77709051	77709051	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:77709051C>T	uc002jxa.3	+	2	629	c.609C>T	c.(607-609)caC>caT	p.H203H		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	203					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCACGGGCCACAGGTACGGCC	0.657000														123			22		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108225552	108225552	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108225552C>T	uc001pkb.1	+	60	9186	c.8801C>T	c.(8800-8802)aCc>aTc	p.T2934I	ATM_uc009yxr.1_Missense_Mutation_p.T2934I|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.T1586I	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2934	PI3K/PI4K.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGAAAACCATGGAAGTG	0.338000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				115			24		0	0	1	0	0
C6orf130	221443	broad.mit.edu	37	6	41036622	41036622	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41036622G>A	uc003opm.3	-	4	486	c.314C>T	c.(313-315)tCt>tTt	p.S105F	UNC5CL_uc010jxe.1_Intron|C6orf130_uc010jxg.3_Missense_Mutation_p.S105F|C6orf130_uc003opn.3_Intron	NM_145063	NP_659500	Q9Y530	CF130_HUMAN	Homo sapiens chromosome 6 open reading frame 130 (C6orf130), mRNA.	105	Macro.									endometrium(1)|lung(5)	6	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGACAATGAGACTTCATTGC	0.398000														43			6		0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74691694	74691694	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74691694T>C	uc010ffj.3	-	1	671	c.508A>G	c.(508-510)Act>Gct	p.T170A	MOGS_uc010ffh.3_5'Flank|MOGS_uc010yrt.2_Missense_Mutation_p.T51A|MOGS_uc010ffi.3_Missense_Mutation_p.T64A|MOGS_uc010yru.1_Intron	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	170					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACGAACTCAGTGGTGAGCCTT	0.627000														198			34		0	0	1	0	0
SYNGR3	9143	broad.mit.edu	37	16	2042976	2042976	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2042976T>C	uc002cod.3	+	3	751	c.593T>C	c.(592-594)gTg>gCg	p.V198A	TCRBV20S1_uc021tak.1_Intron	NM_004209	NP_004200	O43761	SNG3_HUMAN	Homo sapiens synaptogyrin 3 (SYNGR3), mRNA.	198					positive regulation of transporter activity	cell junction|integral to plasma membrane|synaptic vesicle				endometrium(1)|lung(2)	3						GGCTATCCGGTGGGCAGCGGC	0.692000														69			11		0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125542528	125542528	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125542528A>C	uc001qcs.3	-	3	876	c.758T>G	c.(757-759)aTt>aGt	p.I253S	CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Missense_Mutation_p.I183S|ACRV1_uc001qcn.3_Missense_Mutation_p.I198S|ACRV1_uc001qcr.3_Missense_Mutation_p.I234S	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	253					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		ACAGCATATAATTTGCATCCT	0.443000														147			30		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4859664	4859664	+	Missense_Mutation	SNP	C	T	T	rs149231262		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4859664C>T	uc002mbj.2	-	3	463	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PLIN3_uc002mbk.2_Missense_Mutation_p.A96T|PLIN3_uc002mbl.3_Missense_Mutation_p.A96T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	96					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CCCCTGTGGGCGTATTCGCTG	0.567000														107			22		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184042077	184042077	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184042077A>G	uc003fnp.3	+	16	2832	c.2561A>G	c.(2560-2562)gAc>gGc	p.D854G	EIF4G1_uc003fno.2_Missense_Mutation_p.D795G|EIF4G1_uc010hxw.2_Missense_Mutation_p.D690G|EIF4G1_uc010hxx.3_Missense_Mutation_p.D861G|EIF4G1_uc003fnt.3_Missense_Mutation_p.D565G|EIF4G1_uc010hxy.3_Missense_Mutation_p.D861G|EIF4G1_uc003fnq.3_Missense_Mutation_p.D767G|EIF4G1_uc003fnr.3_Missense_Mutation_p.D690G|EIF4G1_uc003fns.3_Missense_Mutation_p.D814G|EIF4G1_uc003fnv.4_Missense_Mutation_p.D855G|EIF4G1_uc003fnw.3_Missense_Mutation_p.D861G|EIF4G1_uc003fnx.3_Missense_Mutation_p.D659G|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	854	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.D854H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTTGAGAAAGACAAAGATGAT	0.443000														144			27		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38603958	38603958	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38603958G>A	uc021wvo.1	-	20	3963	c.3911C>T	c.(3910-3912)aCg>aTg	p.T1304M	SCN5A_uc021wvk.1_Missense_Mutation_p.T1303M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1250M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1304M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1303M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1304M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1303M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1304M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1304M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1303M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1250M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1304M|SCN5A_uc021wvj.1_Missense_Mutation_p.T1116M|SCN5A_uc021wvi.1_Missense_Mutation_p.T1170M|SCN5A_uc021wvw.1_Missense_Mutation_p.T914M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1304			T -> M (in LQT3).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGCACGCAGCGTCCGCAGTGA	0.622000														49			11		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6125267	6125267	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6125267C>T	uc001qnn.1	-	30	5693	c.5443G>A	c.(5443-5445)Gcc>Acc	p.A1815T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1815	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity	p.A1814A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TTGGACCTGGCGGCATCAGCT	0.522000														85			15		0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879459	94879459	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94879459C>A	uc003unp.3	+	8	2504	c.2222C>A	c.(2221-2223)aCa>aAa	p.T741K	PPP1R9A_uc010lfj.3_Missense_Mutation_p.T763K|PPP1R9A_uc011kif.2_Missense_Mutation_p.T741K|PPP1R9A_uc003unq.3_Missense_Mutation_p.T741K|PPP1R9A_uc011kig.2_Missense_Mutation_p.T741K	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	741	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GAGGCCCAAACATTATGCCAC	0.393000										HNSCC(28;0.073)				68			16		7.07596e-05	7.35997e-05	1	1	0
TMEM55A	55529	broad.mit.edu	37	8	92033488	92033488	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:92033488G>A	uc003yes.3	-	1	477	c.251C>T	c.(250-252)gCt>gTt	p.A84V		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	84						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			ACTTACCGTAGCTTCATTGCA	0.343000														89			24		0	0	1	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103312424	103312424	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:103312424T>C	uc004bay.2	+	6	1012	c.979T>C	c.(979-981)Tat>Cat	p.Y327H	MSANTD3-TMEFF1_uc004baz.2_Missense_Mutation_p.Y253H	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	253					multicellular organismal development	integral to membrane|plasma membrane											TGGACTACAATATCGACCAGA	0.353000														68			12		0	0	1	0	0
LYSMD4	145748	broad.mit.edu	37	15	100271942	100271942	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100271942G>A	uc002bvl.3	-	2	448	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvk.3_Missense_Mutation_p.A88V|LYSMD4_uc010bov.3_Missense_Mutation_p.A88V	NM_152449	NP_689662	Q5XG99	LYSM4_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4 (LYSMD4), mRNA.	0					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ATACTGCAGCGCCAGCTTGTT	0.667000														209			21		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799527	5799527	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5799527A>G	uc010qzn.2	-	0	371	c.338T>C	c.(337-339)gTt>gCt	p.V113A	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAACCCATGAACAAAGAACAT	0.493000														118			35		0	0	1	0	0
CDK9	1025	broad.mit.edu	37	9	130551610	130551610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130551610C>T	uc004bse.2	+	6	1030	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C		NM_001261	NP_001252	P50750	CDK9_HUMAN	Homo sapiens cyclin-dependent kinase 9 (CDK9), mRNA.	303	Protein kinase.				cell proliferation|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	transcription elongation factor complex	ATP binding|DNA binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.R303C(1)		lung(1)	1						CCCTGCCCAGCGCATCGACAG	0.617000														123			42		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56132913	56132913	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56132913G>A	uc002adj.3	-	15	3408	c.3108C>T	c.(3106-3108)acC>acT	p.T1036T	NEDD4_uc002adl.3_Silent_p.T617T|NEDD4_uc002adi.3_Silent_p.T964T|NEDD4_uc010ugj.2_Silent_p.T1020T|NEDD4_uc010bfm.3_Silent_p.T1019T|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1036	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTATCTGTAGGGTATAATTGT	0.343000														160			14		0	0	1	0	0
CEP63	80254	broad.mit.edu	37	3	134226043	134226043	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134226043G>A	uc003eqo.1	+	3	586	c.137G>A	c.(136-138)cGt>cAt	p.R46H	CEP63_uc003eql.1_Missense_Mutation_p.R46H|CEP63_uc003eqm.3_Missense_Mutation_p.R46H|CEP63_uc003eqn.1_Missense_Mutation_p.R46H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	46					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TGGGAAGGACGTACACATGCT	0.388000														89			24		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040250	107040250	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040250C>T	uc010ywi.1	-	19	4230	c.4173G>A	c.(4171-4173)aaG>aaA	p.K1391K		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1391	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TACGAACGTGCTTATTATCAT	0.353000														318			120		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881170	228881170	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228881170T>A	uc002vpq.2	-	6	4447	c.4400A>T	c.(4399-4401)gAt>gTt	p.D1467V	SPHKAP_uc002vpp.2_Missense_Mutation_p.D1467V|SPHKAP_uc010zlx.1_Missense_Mutation_p.D1467V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1467						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)		TCTCACCACATCTGGGATGTT	0.512000														187			63		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80037394	80037394	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80037394G>A	uc002kdu.3	-	41	7354	c.7237C>T	c.(7237-7239)Cgc>Tgc	p.R2413C	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2413	Thioesterase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGCTCCTGGCGGTCCAGGCCC	0.637000														180			41		0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119057350	119057350	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119057350G>T	uc001pwb.3	+	1	1003	c.479G>T	c.(478-480)aGg>aTg	p.R160M	PDZD3_uc001pvz.3_Missense_Mutation_p.R94M|PDZD3_uc010rzd.2_Missense_Mutation_p.R81M|PDZD3_uc001pvy.3_Missense_Mutation_p.R94M|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	160	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GAAGGAGACAGGATCCTGGCG	0.607000														85			13		0.00010058	0.000104357	1	1	0
EML1	2009	broad.mit.edu	37	14	100405613	100405613	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100405613C>T	uc001ygr.3	+	21	2397	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	EML1_uc010tww.2_Silent_p.G745G|EML1_uc001ygs.3_Silent_p.G757G	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	757						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TGTCAACAGGCGACGACTTTG	0.522000														111			24		0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118425964	118425964	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118425964T>G	uc001pto.2	-	6	832	c.413_splice	c.e6+1	p.R138_splice	IFT46_uc001ptp.2_Splice_Site_p.R87_splice	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	87					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						AGTACTCACCTACTGATGTAC	0.463000														102			20		0	0	1	0	0
KLHL32	114792	broad.mit.edu	37	6	97562152	97562152	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:97562152G>A	uc010kcm.1	+	6	1593	c.1121G>A	c.(1120-1122)cGc>cAc	p.R374H	KLHL32_uc003poy.3_Missense_Mutation_p.R374H|KLHL32_uc003poz.2_Intron|KLHL32_uc011ead.1_Missense_Mutation_p.R338H|KLHL32_uc011eae.1_Missense_Mutation_p.R305H|KLHL32_uc003ppa.2_Intron|MIR548H3_uc021zda.1_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	Homo sapiens kelch-like 32 (Drosophila) (KLHL32), mRNA.	374								p.R374H(2)|p.R374G(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TATGACCCCCGCAGTAATTCC	0.567000														70			15		0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900974	51900974	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:51900974T>G	uc002iua.2	+	0	736	c.580T>G	c.(580-582)Tat>Gat	p.Y194D	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	194					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATCGAAGAGTATCGCAGGCA	0.577000														172			36		0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547486	165547486	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:165547486A>C	uc003fem.4	-	1	1496	c.1336T>G	c.(1336-1338)Ttc>Gtc	p.F446V	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	446			F -> S (in BChE deficiency).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	p.F446L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	AAATAGTAGAAAAAGGCATTA	0.438000														147			20		0	0	1	0	0
PRSS35	167681	broad.mit.edu	37	6	84234319	84234319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84234319G>A	uc003pjz.3	+	1	1399	c.1159G>A	c.(1159-1161)Gtt>Att	p.V387I	PRSS35_uc010kbm.3_Missense_Mutation_p.V387I|PRSS35_uc021zce.1_Missense_Mutation_p.V387I	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	387	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGACTACAACGTTGCTGTTCG	0.498000														87			23		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72192062	72192062	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72192062G>A	uc002atl.4	-	23	3909	c.3436C>T	c.(3436-3438)Caa>Taa	p.Q1146*	MYO9A_uc010biq.3_Nonsense_Mutation_p.Q766*|MYO9A_uc002atn.1_Nonsense_Mutation_p.Q1127*|MYO9A_uc002atk.3_5'Flank|MYO9A_uc002atm.1_5'Flank	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1146	IQ 5.|Neck or regulatory domain.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATGTTGATTGCAAAAGGATA	0.368000														72			16		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813505	176813505	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813505C>T	uc003mgk.4	+	4	574	c.470C>T	c.(469-471)aCc>aTc	p.T157I	SLC34A1_uc021yis.1_Missense_Mutation_p.T157I	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	157					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCCTGGTGACCGTGCTGGTG	0.627000														205			42		0	0	1	0	0
SLFN5	162394	broad.mit.edu	37	17	33591403	33591403	+	Missense_Mutation	SNP	A	C	C	rs138507199	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33591403A>C	uc002hjf.4	+	3	1457	c.1340A>C	c.(1339-1341)aAc>aCc	p.N447T	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	447					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		ATTTCCCAGAACAACACCCCT	0.448000														117			25		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25050811	25050811	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25050811C>T	uc010ykm.2	-	12	2591	c.2392G>A	c.(2392-2394)Gtc>Atc	p.V798I	ADCY3_uc002rfr.4_Missense_Mutation_p.V385I|ADCY3_uc002rfs.4_Missense_Mutation_p.V798I	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	798					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCATCAAAGACGGGACGCCAG	0.577000											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		166			39		0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33043863	33043863	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:33043863C>T	uc002ypd.2	-	19	3719	c.3293G>A	c.(3292-3294)aGc>aAc	p.S1098N	SCAF4_uc002ype.2_Missense_Mutation_p.S1076N|SCAF4_uc010glu.2_Missense_Mutation_p.S1083N	NM_020706	NP_065757	O95104	SFR15_HUMAN	Homo sapiens SR-related CTD-associated factor 4 (SCAF4), transcript variant 1, mRNA.	1098						nucleus	RNA binding|nucleotide binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCCCACTTGGCTAATGGGAGG	0.507000														156			39		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32217617	32217617	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32217617C>A	uc011alu.2	+	22	2202	c.2000C>A	c.(1999-2001)gCt>gAt	p.A667D	DEPDC5_uc011als.2_Intron|DEPDC5_uc003als.3_Missense_Mutation_p.A667D|DEPDC5_uc011alv.2_Intron|DEPDC5_uc003alt.3_Missense_Mutation_p.A667D|DEPDC5_uc003alv.3_Intron|DEPDC5_uc003alu.3_Missense_Mutation_p.A107D|DEPDC5_uc011alw.1_5'Flank|DEPDC5_uc011alt.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	667					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CATGAAGCTGCTGGAAGGTGA	0.522000														237			65		2.03366e-24	2.52734e-24	1	1	0
TCTN1	79600	broad.mit.edu	37	12	111078889	111078889	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111078889G>A	uc001trn.4	+	8	1195	c.1039G>A	c.(1039-1041)Gtt>Att	p.V347I	TCTN1_uc010syc.2_Non-coding_Transcript|TCTN1_uc009zvs.3_Missense_Mutation_p.V347I|TCTN1_uc001trm.3_Missense_Mutation_p.V287I|TCTN1_uc001trp.4_Missense_Mutation_p.V333I|TCTN1_uc001trj.2_Missense_Mutation_p.V291I|TCTN1_uc001trk.4_Non-coding_Transcript|HVCN1_uc001trq.1_Intron	NM_001082538	NP_001076007	Q2MV58	TECT1_HUMAN	Homo sapiens tectonic family member 1 (TCTN1), transcript variant 1, mRNA.	347					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCTCTCATTCGTTCTGGGGAC	0.388000														184			34		0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39931785	39931785	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:39931785G>T	uc004den.4	-	3	3106	c.2814C>A	c.(2812-2814)acC>acA	p.T938T	BCOR_uc004dep.4_Silent_p.T938T|BCOR_uc004deo.4_Silent_p.T938T|BCOR_uc004dem.4_Silent_p.T938T|BCOR_uc004deq.4_Silent_p.T938T	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	938					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.Y939fs*7(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTTTGGTATAGGTGGGGGTCA	0.507000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							96			9		0.000442599	0.000455268	1	1	0
TEX29	121793	broad.mit.edu	37	13	111992248	111992248	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111992248G>A	uc001vsa.3	+	3	337	c.208G>A	c.(208-210)Gct>Act	p.A70T		NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	Homo sapiens chromosome 13 open reading frame 16 (C13orf16), mRNA.	70						integral to membrane											TGTGATCATCGCTGGGGCCTT	0.493000														253			51		0	0	1	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21805159	21805159	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21805159G>T	uc002kve.3	-	16	1665	c.1448C>A	c.(1447-1449)tCc>tAc	p.S483Y	OSBPL1A_uc002kvd.3_5'UTR|OSBPL1A_uc010xbc.2_Missense_Mutation_p.S101Y|OSBPL1A_uc002kvf.3_Missense_Mutation_p.S263Y	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	483					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTCGGACTCGGAATCTGTGGC	0.483000														91			15		2.31682e-05	2.42268e-05	1	1	0
WARS	7453	broad.mit.edu	37	14	100826997	100826997	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100826997G>A	uc001yhh.1	-	3	697	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	WARS_uc001yhi.1_Missense_Mutation_p.R65W|WARS_uc001yhg.2_Missense_Mutation_p.R106W|WARS_uc001yhl.1_Missense_Mutation_p.R106W|WARS_uc001yhk.1_Missense_Mutation_p.R65W|WARS_uc010twz.1_Missense_Mutation_p.R106W	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	106					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCCAAACCGAACTGGAAAA	0.418000														93			23		0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179076766	179076766	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179076766A>G	uc003fjt.3	+	2	478	c.471A>G	c.(469-471)ggA>ggG	p.G157G	MFN1_uc003fjs.3_Silent_p.G129G|MFN1_uc010hxb.3_Non-coding_Transcript	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	129					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGACAGAAGGATCAGATGAAA	0.343000														69			18		0	0	1	0	0
ZC3H7B	23264	broad.mit.edu	37	22	41723231	41723231	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41723231G>T	uc003azw.3	+	4	523	c.307G>T	c.(307-309)Gag>Tag	p.E103*	ZC3H7B_uc003azv.1_Nonsense_Mutation_p.E103*	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	Homo sapiens zinc finger CCCH-type containing 7B (ZC3H7B), mRNA.	103					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GAAGGCGCTGGAGGACAGCGA	0.627000														214			50		4.0181e-32	5.07032e-32	1	1	0
LAMB1	3912	broad.mit.edu	37	7	107616323	107616323	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107616323C>A	uc003vev.2	-	8	1234	c.1073_splice	c.e8-1	p.K358_splice	LAMB1_uc003vew.2_Splice_Site_p.K334_splice|LAMB1_uc003vex.3_Splice_Site_p.K334_splice|LAMB1_uc010ljn.1_Splice_Site_p.K420_splice	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	334	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGTTACATTCTGCGTGACAA	0.483000														80			16		2.32078e-09	2.57599e-09	1	1	0
BTNL2	56244	broad.mit.edu	37	6	32370729	32370729	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32370729G>A	uc003obg.1	-	2	692	c.692C>T	c.(691-693)tCg>tTg	p.S231L	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	231	Ig-like V-type 2.					integral to membrane		p.S231S(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTGATGACCGACCCCTTCTC	0.587000														56			15		0	0	1	0	0
KRIT1	889	broad.mit.edu	37	7	91870376	91870376	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91870376T>C	uc003ulr.1	-	4	1085	c.193A>G	c.(193-195)Aca>Gca	p.T65A	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Missense_Mutation_p.T65A|KRIT1_uc003uls.1_Missense_Mutation_p.T65A|KRIT1_uc003ult.1_Missense_Mutation_p.T65A|KRIT1_uc003ulu.1_Missense_Mutation_p.T65A|KRIT1_uc003ulv.1_Missense_Mutation_p.T65A	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	65					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGCCTTGTGTTATTTCACTG	0.353000														61			21		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48147173	48147173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48147173C>T	uc003gxz.3	-	13	1484	c.1393G>A	c.(1393-1395)Gta>Ata	p.V465I		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	465	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTCAGCAGTACGTCTCTACTG	0.478000														186			45		0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54905762	54905762	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54905762A>G	uc001sgc.4	+	8	893	c.814A>G	c.(814-816)Aac>Gac	p.N272D	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.N222D	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	272					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity	p.L271L(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGGGTGCCTCAACTCCAATAG	0.483000														122			29		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513018	106513018	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106513018G>A	uc003vdv.4	+	2	2117	c.2032G>A	c.(2032-2034)Gcc>Acc	p.A678T	PIK3CG_uc003vdu.3_Missense_Mutation_p.A678T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A678T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	678					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TAGCGCCCTTGCCAGATTTCT	0.393000														153			33		0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243676	8243676	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8243676A>C	uc002gle.1	+	0	489	c.307A>C	c.(307-309)Aaa>Caa	p.K103Q		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	103					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTCTCCAAGAAATGGCTGGA	0.557000														40			6		0	0	1	0	0
FAM40A	85369	broad.mit.edu	37	1	110580524	110580524	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110580524G>T	uc001dza.1	+	1	211	c.192G>T	c.(190-192)gaG>gaT	p.E64D	FAM40A_uc001dyz.1_5'UTR|FAM40A_uc009wfp.1_5'UTR	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	64						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GCTATTCGGAGTCACCAGACC	0.468000														89			15		1.05317e-09	1.17384e-09	1	1	0
NEB	4703	broad.mit.edu	37	2	152520341	152520341	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152520341T>G	uc021vrb.1	-	42	5513	c.5484A>C	c.(5482-5484)aaA>aaC	p.K1828N	NEB_uc002txu.3_Missense_Mutation_p.K1828N|NEB_uc021vrc.1_Missense_Mutation_p.K1828N|NEB_uc010fnx.3_Missense_Mutation_p.K1828N|NEB_uc021vrd.1_Missense_Mutation_p.K1828N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1828					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGTTTCCCTTTGGCTTGTT	0.448000														114			29		0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141856698	141856698	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:141856698C>T	uc003yvu.3	-	6	840	c.530_splice	c.e6+1	p.R177_splice	PTK2_uc003yvq.3_5'Flank|PTK2_uc003yvr.3_Splice_Site_p.R76_splice|PTK2_uc003yvs.3_Splice_Site_p.R177_splice|PTK2_uc011ljr.2_Splice_Site_p.R177_splice|PTK2_uc003yvt.3_Splice_Site_p.R199_splice|PTK2_uc003yvv.3_Splice_Site_p.R64_splice	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	177	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCATCTTACCGTATTTCTAG	0.323000														56			5		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151166218	151166218	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151166218C>T	uc003lun.3	+	1	208	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	G3BP1_uc010jhy.1_Missense_Mutation_p.R13W|G3BP1_uc003lum.3_Missense_Mutation_p.R13W|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR|AX747080_uc003luo.1_5'Flank|AX747080_uc003lup.1_5'Flank	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	13	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GCTGGTCGGGCGGGAATTTGT	0.468000														163			13		0	0	1	0	0
LDLRAP1	26119	broad.mit.edu	37	1	25880492	25880492	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25880492G>A	uc001bkl.4	+	1	282	c.168G>A	c.(166-168)acG>acA	p.T56T		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	56	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCATGACGCTAGTGGAGC	0.637000														125			12		0	0	1	0	0
PPM1E	22843	broad.mit.edu	37	17	56833506	56833506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56833506G>A	uc002iwx.3	+	0	275	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	PPM1E_uc010ddd.3_5'UTR	NM_014906	NP_055721	Q8WY54	PPM1E_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1E (PPM1E), mRNA.	50	11 X 2 AA tandem repeats of P-E.|Glu-rich.|Pro-rich.				protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			gcccgagcccgaacctgaacT	0.706000														22			7		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39908676	39908676	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39908676C>A	uc010xuz.2	+	8	1339	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	PLEKHG2_uc010xuy.2_Missense_Mutation_p.F279L|PLEKHG2_uc002olj.3_Missense_Mutation_p.F338L|PLEKHG2_uc010xva.2_Missense_Mutation_p.F145L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	338	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGCTGCTCTTCCTGTTCTCTC	0.632000														41			6		0.0293803	0.0295844	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62286943	62286943	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62286943A>G	uc001ntl.3	-	4	15246	c.14946T>C	c.(14944-14946)ttT>ttC	p.F4982F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4982					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTTTTGCCCCAAATCCAAACT	0.448000														167			32		0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925335	89925335	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:89925335T>C	uc003kju.3	+	8	1914	c.1818T>C	c.(1816-1818)aaT>aaC	p.N606N	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	606					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		tccttcaaaatggagctcact	0.318000														63			16		0	0	1	0	0
RNF113B	140432	broad.mit.edu	37	13	98829110	98829110	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98829110G>A	uc001vnk.3	-	0	412	c.381C>T	c.(379-381)atC>atT	p.I127I	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	127							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			TGCACTTGAGGATGGTCGGCG	0.652000														149			25		0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52147572	52147572	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52147572C>A	uc003pan.1	-	2	389	c.279G>T	c.(277-279)aaG>aaT	p.K93N	MCM3_uc011dwu.1_Missense_Mutation_p.K47N	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	93					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CCTCATACTGCTTGGCATAGG	0.532000														93			15		6.72482e-11	7.60803e-11	1	1	0
KIAA0100	9703	broad.mit.edu	37	17	26969931	26969931	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26969931A>C	uc002hbu.3	-	4	574	c.471T>G	c.(469-471)atT>atG	p.I157M	KIAA0100_uc002hbv.3_Missense_Mutation_p.I157M|KIAA0100_uc010crr.2_Missense_Mutation_p.I14M	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	157						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TACTGATCTGAATATGCCATA	0.438000														84			11		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848687	42848687	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42848687C>A	uc002otl.4	+	10	2518	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	MEGF8_uc002otm.4_Missense_Mutation_p.P169H	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	652						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCACGGGGACCTGGCACCCTG	0.711000														82			30		9.80776e-20	1.19282e-19	1	1	0
DIRAS1	148252	broad.mit.edu	37	19	2717568	2717568	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717568G>A	uc002lwf.3	-	1	395	c.237C>T	c.(235-237)ggC>ggT	p.G79G	DIRAS1_uc021umt.1_Silent_p.G79G	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	79					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	p.G79G(2)|p.G79C(1)		kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGGCGTGGCCCTTGGAGA	0.622000														98			23		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22846692	22846692	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22846692C>T	uc001bft.2	+	14	3483	c.2972C>T	c.(2971-2973)tCc>tTc	p.S991F	ZBTB40_uc001bfu.2_Missense_Mutation_p.S991F|ZBTB40_uc009vqi.1_Missense_Mutation_p.S879F	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	991					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		AGTGCCCCGTCCATGCTGGAG	0.607000														170			20		0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21868399	21868399	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21868399G>A	uc001war.2	-	22	4703	c.4638C>T	c.(4636-4638)atC>atT	p.I1546I	CHD8_uc001was.2_Silent_p.I1267I|SNORD8_uc001wau.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1546					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTGCCTTATGGATATCAAAAG	0.403000														60			14		0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8290773	8290773	+	Missense_Mutation	SNP	C	T	T	rs142973159	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8290773C>T	uc001qtz.1	+	5	851	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	CLEC4A_uc009zga.1_Missense_Mutation_p.R163C|CLEC4A_uc001qub.1_Missense_Mutation_p.R169C|CLEC4A_uc001quc.1_Missense_Mutation_p.R130C|CLEC4A_uc009zgb.1_3'UTR	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	Homo sapiens C-type lectin domain family 4, member A (CLEC4A), transcript variant 1, mRNA.	202	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity	p.R202H(2)		cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TCCCAATGAGCGCTGCGTTGT	0.438000														95			17		0	0	1	0	0
DNLZ	728489	broad.mit.edu	37	9	139256578	139256578	+	Silent	SNP	G	A	A	rs144760803		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139256578G>A	uc004chf.1	-	2	498	c.423C>T	c.(421-423)ggC>ggT	p.G141G	DNLZ_uc011mdv.1_Non-coding_Transcript	NM_001080849	NP_001074318	Q5SXM8	DNLZ_HUMAN	Homo sapiens DNL-type zinc finger (DNLZ), mRNA.	141							metal ion binding			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGGCCCCCTCGCCCGCCACAC	0.682000														75			9		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1232923	1232923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1232923C>T	uc003jby.2	+	2	482	c.359C>T	c.(358-360)gCg>gTg	p.A120V		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	120					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)			ACCATCGTGGCGTGGGTGCTG	0.652000														180			48		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74337391	74337391	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74337391G>T	uc011lsa.1	-	11	2759	c.2219C>A	c.(2218-2220)tCt>tAt	p.S740Y	TMEM2_uc010mos.2_Missense_Mutation_p.S677Y|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	740						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCAGCACTAGAGTTGGTTGT	0.378000														60			16		1.15088e-07	1.24477e-07	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37454764	37454764	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37454764G>T	uc002rpz.3	-	1	1602	c.1572C>A	c.(1570-1572)gtC>gtA	p.V524V		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	524					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTAAAGCCTGGACACTGGTAT	0.378000														140			31		1.39806e-14	1.64448e-14	1	1	0
ETNK2	55224	broad.mit.edu	37	1	204109165	204109165	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204109165G>A	uc001han.4	-	4	1193	c.866C>T	c.(865-867)gCa>gTa	p.A289V	ETNK2_uc010pqr.2_Missense_Mutation_p.A111V|ETNK2_uc001hao.4_Missense_Mutation_p.A289V|ETNK2_uc010pqs.2_Missense_Mutation_p.A248V|ETNK2_uc010pqt.2_Missense_Mutation_p.A111V|BC038769_uc001hap.3_5'Flank			Q9NVF9	EKI2_HUMAN	Homo sapiens ethanolamine kinase 2 (ETNK2), mRNA.	289							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTCTCACCTGCAAACTCATT	0.428000														103			37		0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38950004	38950004	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38950004C>T	uc003jlo.2	-	30	3968	c.3946G>A	c.(3946-3948)Gat>Aat	p.D1316N	RICTOR_uc003jlp.2_Missense_Mutation_p.D1316N|RICTOR_uc010ivf.2_Missense_Mutation_p.D1031N	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1316					T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade	TORC2 complex|cytosol	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AAGTTACAATCTGCTAGACTT	0.418000														100			25		0	0	1	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154988148	154988148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154988148C>T	uc001fgj.4	+	4	1399	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	ZBTB7B_uc009wpa.3_Missense_Mutation_p.R338C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R338C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R372C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R338C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	338					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAAGCTGGTGCGCAAACGCCG	0.607000														102			33		0	0	1	0	0
KIAA1919	91749	broad.mit.edu	37	6	111583508	111583508	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:111583508A>C	uc003puv.4	+	1	498	c.76A>C	c.(76-78)Aac>Cac	p.N26H		NM_153369	NP_699200	Q5TF39	NAGT1_HUMAN	Homo sapiens KIAA1919 (KIAA1919), mRNA.	26					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTTGGCAACAAACGTGAACCG	0.363000														181			38		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075312	106075312	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075312G>T	uc001kyf.3	-	2	951	c.498C>A	c.(496-498)ggC>ggA	p.G166G	ITPRIP_uc001kye.3_Silent_p.G166G|ITPRIP_uc001kyg.3_Silent_p.G166G|ITPRIP_uc021pxv.1_Silent_p.G166G	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	166						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CATCCACGAAGCCTTCCAGGA	0.622000														191			39		1.58521e-26	1.98192e-26	1	1	0
IMMT	10989	broad.mit.edu	37	2	86371725	86371725	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86371725A>G	uc002sqz.4	-	14	2331	c.1943T>C	c.(1942-1944)aTt>aCt	p.I648T	IMMT_uc002sqy.4_Missense_Mutation_p.I389T|IMMT_uc010yte.2_Missense_Mutation_p.I601T|IMMT_uc002srb.4_Missense_Mutation_p.I637T|IMMT_uc002sra.4_Missense_Mutation_p.I647T|IMMT_uc010ytd.2_Missense_Mutation_p.I636T	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	648						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTTTCATCAATCATTGCTAC	0.532000														194			30		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584484	145584484	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584484C>A	uc003zcc.2	+	4	1311	c.1147C>A	c.(1147-1149)Ctt>Att	p.L383I	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.L383I|SLC52A2_uc010mfy.2_Missense_Mutation_p.L383I|SLC52A2_uc011llc.2_Missense_Mutation_p.L295I|SLC52A2_uc003zcd.2_Missense_Mutation_p.L383I	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	383						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGTGCTGTGTCTTGGCGTGTT	0.682000														216			21		6.33239e-15	7.46874e-15	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149939346	149939346	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939346C>A	uc001etn.3	-	3	731	c.375G>T	c.(373-375)gaG>gaT	p.E125D	OTUD7B_uc001eto.3_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	125					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCAGGGGGTGCTCATTGCTCC	0.557000														140			26		2.79863e-10	3.14589e-10	1	1	0
NR2E1	7101	broad.mit.edu	37	6	108496126	108496126	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108496126C>T	uc003psg.3	+	3	1014	c.259_splice	c.e3+1	p.A87_splice		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA.	87					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGAACAAAGACGGTAATCAGT	0.458000														105			19		0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30666953	30666953	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30666953A>G	uc002hhg.3	-	2	296	c.226T>C	c.(226-228)Tcc>Ccc	p.S76P		NM_022344	NP_071739	Q9HAS0	NJMU_HUMAN	Homo sapiens chromosome 17 open reading frame 75 (C17orf75), mRNA.	76					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TCTGCCAAGGAGAGGCTTGAC	0.473000														78			25		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450655	70450655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70450655C>T	uc001jok.4	+	11	6000	c.5495C>T	c.(5494-5496)tCg>tTg	p.S1832L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1832					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAACTTATTCGCTGATGCCA	0.478000														193			46		0	0	1	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884724	38884724	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38884724C>T	uc002ywk.3	+	10	2258	c.2182C>T	c.(2182-2184)Cct>Tct	p.P728S	DYRK1A_uc002ywi.3_3'UTR|DYRK1A_uc002ywj.3_Missense_Mutation_p.P719S|DYRK1A_uc002ywm.3_3'UTR|DYRK1A_uc011aei.2_Missense_Mutation_p.P489S	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	728					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAATACAGGTCCTGCACATTA	0.483000														114			7		0	0	1	0	0
CYP8B1	1582	broad.mit.edu	37	3	42916392	42916392	+	Missense_Mutation	SNP	C	T	T	rs148690797		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42916392C>T	uc003cmh.3	-	0	1242	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	306					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	p.R306Q(2)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCTCACAGCCCGAATAGCTTC	0.587000														69			13		0	0	1	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606840	82606840	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82606840A>G	uc011lfs.2	-	0	368	c.368T>C	c.(367-369)gTc>gCc	p.V123A		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	123						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						GAGCACTTTGACTTTCACATT	0.358000														106			20		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43766205	43766205	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43766205C>T	uc002owd.4	-	2	615	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PSG9_uc002owe.4_Silent_p.E172E|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.E172E	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	172	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGTCCAGAGTCTCAGGATCAC	0.527000														476			120		0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	153995419	153995419	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:153995419G>A	uc003ezy.4	-	22	2737	c.2656C>T	c.(2656-2658)Ctt>Ttt	p.L886F	DHX36_uc010hvq.3_Missense_Mutation_p.L872F|DHX36_uc003ezz.4_Missense_Mutation_p.L857F	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 36 (DHX36), transcript variant 1, mRNA.	886						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TGATAGATAAGCCAGTTGTAG	0.333000														37			6		0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220479972	220479972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220479972G>A	uc002vml.3	+	23	3102	c.3059G>A	c.(3058-3060)cGt>cAt	p.R1020H		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	1020					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCTGTGCGTGTCAGGGAG	0.652000														37			9		0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597782	2597782	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2597782T>C	uc002wgf.1	+	15	2020	c.2005T>C	c.(2005-2007)Tac>Cac	p.Y669H	TMC2_uc002wgg.1_Missense_Mutation_p.Y653H	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	669						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCTCCATGTACTTCCAGTG	0.567000														140			30		0	0	1	0	0
ZNF333	84449	broad.mit.edu	37	19	14806443	14806443	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14806443G>T	uc002mzn.3	+	3	327	c.193G>T	c.(193-195)Gaa>Taa	p.E65*	ZNF333_uc010dzq.2_Nonsense_Mutation_p.E65*|ZNF333_uc002mzk.4_5'UTR|ZNF333_uc002mzl.3_Nonsense_Mutation_p.E65*|ZNF333_uc010dzr.1_Non-coding_Transcript	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	65	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						AAAGGCAACAGAACGAGGGAT	0.572000														69			9		1.12685e-05	1.18529e-05	1	1	0
TMEM64	169200	broad.mit.edu	37	8	91657382	91657382	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91657382C>T	uc003yen.2	-	0	752	c.752G>A	c.(751-753)aGa>aAa	p.R251K	TMEM64_uc003yeo.2_Intron|TMEM64_uc011lgf.1_Missense_Mutation_p.R251K|BC040572_uc003yep.3_5'Flank	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	Homo sapiens transmembrane protein 64 (TMEM64), transcript variant 1, mRNA.	251						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GGGTGTCAGTCTGGCCAGCGC	0.592000											OREG0018858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		169			28		0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104461826	104461826	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104461826A>C	uc001tkj.4	+	2	517	c.414A>C	c.(412-414)aaA>aaC	p.K138N	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	138					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATGGTAACAAATGCTATTTGT	0.413000														213			48		0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30890674	30890674	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30890674G>T	uc011dmz.2	+	23	2278	c.2197_splice	c.e23-1	p.K733_splice	VARS2_uc003nsc.2_Splice_Site_p.K703_splice|VARS2_uc011dmx.2_Splice_Site_p.K703_splice|VARS2_uc011dmy.2_Splice_Site_p.K563_splice|VARS2_uc011dna.2_Splice_Site_p.K701_splice|VARS2_uc011dnb.2_Splice_Site|VARS2_uc011dnc.2_Splice_Site|VARS2_uc011dnd.2_Splice_Site_p.K141_splice|VARS2_uc010jsg.2_Splice_Site_p.K75_splice|VARS2_uc010jsh.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	703					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TCTGGTTGCAGAAAAAGGACT	0.582000														161			39		1.59361e-14	1.87298e-14	1	1	0
TTLL1	25809	broad.mit.edu	37	22	43442432	43442432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43442432C>T	uc003bdi.3	-	9	1367	c.1126G>A	c.(1126-1128)Ggc>Agc	p.G376S	TTLL1_uc010gzh.3_Missense_Mutation_p.G347S|TTLL1_uc021wqt.1_Missense_Mutation_p.G338S|TTLL1_uc003bdj.3_Missense_Mutation_p.G262S	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	376					protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TCGTAATTGCCGAGGACTTCC	0.498000														313			14		0	0	1	0	0
LTB	4050	broad.mit.edu	37	6	31548600	31548600	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31548600G>A	uc003nuk.3	-	3	629	c.621C>T	c.(619-621)ttC>ttT	p.F207F	LTB_uc003nul.3_3'UTR	NM_002341	NP_002332	Q06643	TNFC_HUMAN	Homo sapiens lymphotoxin beta (TNF superfamily, member 3) (LTB), transcript variant 1, mRNA.	207					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCAGGCCGCCGAACCCCACGC	0.662000														60			18		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86281383	86281383	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86281383G>T	uc002sqs.3	-	14	2467	c.2088C>A	c.(2086-2088)atC>atA	p.I696I	POLR1A_uc010ytb.2_Silent_p.I62I	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	696					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GGTCCTCTGGGATTATATTTA	0.453000														48			13		6.81908e-15	8.04059e-15	1	1	0
FZD3	7976	broad.mit.edu	37	8	28385340	28385340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28385340G>A	uc003xgx.3	+	4	1592	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	FZD3_uc010lvb.3_Missense_Mutation_p.D355N	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	355					G-protein signaling, coupled to cGMP nucleotide second messenger|canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		AATTGAAGGTGACAATATTAG	0.443000														120			33		0	0	1	0	0
CFP	5199	broad.mit.edu	37	X	47487033	47487033	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47487033G>A	uc004dih.3	-	4	653	c.411C>T	c.(409-411)ggC>ggT	p.G137G	CFP_uc004dig.4_Silent_p.G137G|CFP_uc004dii.1_Silent_p.G73G|CFP_uc010nhu.2_Silent_p.G137G	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	137	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CAGACCAGCCGCCCATCTCTG	0.612000														25			5		0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11457220	11457220	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:11457220T>G	uc021zzo.1	-	16	3646	c.3394A>C	c.(3394-3396)Aat>Cat	p.N1132H	THSD7A_uc021zzn.1_Missense_Mutation_p.N1130H	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1132	TSP type-1 11.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTGCTGTATTCTGCATGCAT	0.418000										HNSCC(18;0.044)				72			12		0	0	1	0	0
UCP3	7352	broad.mit.edu	37	11	73712499	73712499	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73712499C>T	uc001our.3	-	6	1252	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	299	Purine nucleotide binding (By similarity).				mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding	p.R299L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATCAGGGCCCGTTTCAGCT	0.453000														87			18		0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18022140	18022140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18022140C>T	uc010gqw.1	+	14	2236	c.2236C>T	c.(2236-2238)Cac>Tac	p.H746Y	CECR2_uc010gqv.1_Missense_Mutation_p.H607Y|CECR2_uc002zml.2_Missense_Mutation_p.H607Y	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	790					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAATCGAGTACACTCTGCCGT	0.592000														86			21		0	0	1	0	0
ATG2A	23130	broad.mit.edu	37	11	64662641	64662641	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64662641G>A	uc001obx.3	-	40	5736	c.5621C>T	c.(5620-5622)tCg>tTg	p.S1874L	AB429224_uc009ypx.3_5'Flank|ATG2A_uc001obw.3_Missense_Mutation_p.S639L	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1874							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ATGGCCCCGCGATGCCACGTC	0.677000														188			36		0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959167	43959167	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43959167G>T	uc002xnu.3	-	3	324	c.284C>A	c.(283-285)tCt>tAt	p.S95Y	SDC4_uc010zws.2_Missense_Mutation_p.S23Y	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	95						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				TTGGCTCCCAGACCCTGCCCT	0.532000			T	ROS1	NSCLC									73			15		0.000219431	0.000226893	1	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105363480	105363480	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105363480C>T	uc010qqu.1	-	11	1307	c.1240G>A	c.(1240-1242)Gca>Aca	p.A414T	SH3PXD2A_uc010qqr.2_Intron|SH3PXD2A_uc010qqs.1_Missense_Mutation_p.A306T|SH3PXD2A_uc010qqt.1_Missense_Mutation_p.A348T|SH3PXD2A_uc009xxn.1_Missense_Mutation_p.A306T|SH3PXD2A_uc001kxj.1_Missense_Mutation_p.A471T	NM_014631	NP_055446	Q5TCZ1	SPD2A_HUMAN	Homo sapiens SH3 and PX domains 2A (SH3PXD2A), mRNA.	499					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGTATGATGCGGGGGCCCAG	0.622000														143			20		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716967	142716967	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:142716967T>C	uc022cfm.1	-	0	1958	c.1958A>G	c.(1957-1959)cAc>cGc	p.H653R	SLITRK4_uc022cfl.1_Missense_Mutation_p.H653R|SLITRK4_uc004fbx.3_Missense_Mutation_p.H653R|SLITRK4_uc004fby.3_Missense_Mutation_p.H653R	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	653						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCCTTCGTGCTTCACTGT	0.448000														207			52		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173891399	173891399	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173891399T>C	uc002uhv.4	+	23	2540	c.2353T>C	c.(2353-2355)Tgg>Cgg	p.W785R	RAPGEF4_uc002uhw.4_Missense_Mutation_p.W641R	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	785	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity	p.W785L(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			AATTTATGATTGGGAACTCTT	0.438000														118			19		0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118625471	118625471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118625471G>A	uc001pub.2	-	12	1763	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	DDX6_uc001pua.2_Silent_p.L168L|DDX6_uc001puc.2_Silent_p.L468L	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	468	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|stress granule	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|protein binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GCCACATACAGGCTCTTATCA	0.428000			T	IGH@	B-NHL									147			19		0	0	1	0	0
SENP6	26054	broad.mit.edu	37	6	76412670	76412670	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76412670T>G	uc003pid.4	+	18	3217	c.2598T>G	c.(2596-2598)caT>caG	p.H866Q	SENP6_uc003pie.4_Missense_Mutation_p.H859Q|SENP6_uc010kbf.3_Intron	NM_015571	NP_056386	Q9GZR1	SENP6_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA.	866	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AAATAAATCATACTGCGAGTG	0.358000														128			35		0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148718166	148718166	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148718166G>A	uc003wff.2	-	1	444	c.162C>T	c.(160-162)gaC>gaT	p.D54D		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	54	Asp/Glu-rich (acidic).|Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			CTTCCAAGTCGtcttcttcct	0.418000														40			11		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62178549	62178549	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62178549C>T	uc002yfi.1	-	0	309	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	90	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGCCTGCGTGCGAAGATGTAG	0.677000														97			25		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43233933	43233933	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43233933G>A	uc002oue.3	-	3	1117	c.985C>T	c.(985-987)Ctc>Ttc	p.L329F	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	329					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TACTCACAGAGGACATTCAGG	0.488000														166			28		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514566	44514566	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44514566G>T	uc002oyb.1	+	4	626	c.375G>T	c.(373-375)caG>caT	p.Q125H		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	125	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TCCCCTCCCAGGTTGAGGCAG	0.438000														126			18		2.4624e-09	2.73094e-09	1	1	0
SLC35E4	339665	broad.mit.edu	37	22	31032960	31032960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31032960G>A	uc003ais.1	+	0	1168	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	SLC35E4_uc003ait.3_Missense_Mutation_p.A163T	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	175	DUF6.|Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CCTGGGGGCCGCCTGCAGCCT	0.682000														93			20		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156635	155156635	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155156635C>T	uc003inw.2	-	24	7804	c.7804G>A	c.(7804-7806)Gac>Aac	p.D2602N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2602					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TTACTGCAGTCGTCAGTTTTC	0.448000														169			38		0	0	1	0	0
ADRA2B	151	broad.mit.edu	37	2	96781645	96781645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96781645G>A	uc021vlh.1	-	0	244	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	82					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CACCACGTGCGCCGGAAGTAC	0.657000														80			24		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39855321	39855321	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39855321G>A	uc003oow.3	+	15	2152	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	DAAM2_uc003oox.3_Silent_p.S671S|AX747174_uc003ooz.1_5'Flank	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	671	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AAGAGCTGTCGGTCATTGATG	0.532000														30			6		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10100706	10100706	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10100706T>C	uc021xlv.1	-	3	570	c.287A>G	c.(286-288)tAt>tGt	p.Y96C	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	96					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGGTACTCATACTTCAACAG	0.582000														152			26		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224100	43224100	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43224100C>T	uc002lbe.3	+	9	2142	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	SLC14A2_uc002lbb.3_Silent_p.S442S|SLC14A2_uc010dnj.3_Silent_p.S442S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	442						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTGAAAAGCGGTGAAGAAG	0.547000														213			44		0	0	1	0	0
KCND1	3750	broad.mit.edu	37	X	48823034	48823034	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48823034G>A	uc004dlx.1	-	3	2991	c.1418C>T	c.(1417-1419)gCc>gTc	p.A473V	KCND1_uc004dlw.1_Missense_Mutation_p.A96V	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	473						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CTGTTCAAAGGCAGAACGGTT	0.547000														49			5		0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50534865	50534865	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50534865C>T	uc001zxz.3	-	11	1923	c.1581G>A	c.(1579-1581)caG>caA	p.Q527Q	HDC_uc001zxy.3_Silent_p.Q270Q|HDC_uc010uff.2_Silent_p.Q494Q	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	527					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)	CTCCCACACGCTGAGGCTGCT	0.577000														107			27		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101654741	101654741	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101654741A>G	uc001kqj.2	-	10	3210	c.3118T>C	c.(3118-3120)Ttt>Ctt	p.F1040L	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.F328L|DNMBP_uc001kqh.2_Missense_Mutation_p.F672L	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1040	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCTCGGATAAAAGACTTAATC	0.368000														52			6		0	0	1	0	0
WDR69	164781	broad.mit.edu	37	2	228750117	228750117	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228750117G>T	uc002vpn.1	+	1	170	c.91G>T	c.(91-93)Gat>Tat	p.D31Y	WDR69_uc010zlw.1_Missense_Mutation_p.D16Y|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	31										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TAAGTCCATAGATTTGCTTGA	0.358000														68			16		4.7546e-09	5.25358e-09	1	1	0
CARD11	84433	broad.mit.edu	37	7	2952980	2952980	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:2952980G>A	uc003smv.3	-	21	3294	c.2960C>T	c.(2959-2961)aCg>aTg	p.T987M		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	987	Guanylate kinase-like.				T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CTGCACCAGCGTCTTGGCCAG	0.672000			Mis		DLBCL									248			56		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40433216	40433216	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40433216T>C	uc002omp.4	-	1	1061	c.1053A>G	c.(1051-1053)gtA>gtG	p.V351V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	351	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCCTGGTACACTCTTGA	0.592000														105			26		0	0	1	0	0
ZNF565	147929	broad.mit.edu	37	19	36673443	36673443	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36673443G>A	uc002odn.3	-	4	1533	c.1425C>T	c.(1423-1425)taC>taT	p.Y475Y	ZNF565_uc010ees.3_Silent_p.Y410Y|ZNF565_uc002odo.3_Silent_p.Y475Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P474L(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CTCTACATTCGTAAGGTTTGA	0.418000														83			21		0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89868815	89868815	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89868815T>C	uc001pdf.4	+	1	280	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NAALAD2_uc009yvx.3_Silent_p.A57A|NAALAD2_uc009yvy.3_Silent_p.A57A|NAALAD2_uc001pdd.2_Silent_p.A57A|NAALAD2_uc001pde.3_Silent_p.A57A	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	57					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AAATGAAAGCTGAAAACATCA	0.333000														70			9		0	0	1	0	0
OBFC1	79991	broad.mit.edu	37	10	105657393	105657393	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105657393C>T	uc001kxl.3	-	5	741	c.666G>A	c.(664-666)caG>caA	p.Q222Q	OBFC1_uc001kxm.3_Silent_p.Q222Q	NM_024928	NP_079204	Q9H668	STN1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA.	222					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		GGTAAAAGCTCTGCACTCTGT	0.532000														129			36		0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118428591	118428591	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118428591G>A	uc001pto.2	-	3	479	c.60C>T	c.(58-60)ggC>ggT	p.G20G	IFT46_uc001ptp.2_Intron	NM_020153	NP_064538	Q9NQC8	IFT46_HUMAN	Homo sapiens intraflagellar transport 46 homolog (Chlamydomonas) (IFT46), transcript variant 1, mRNA.	15					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	p.E19D(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						CCTGTGGCATGCCCTCCCTTA	0.498000														294			55		0	0	1	0	0
CRYGC	1420	broad.mit.edu	37	2	208994239	208994239	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:208994239G>A	uc002vco.4	-	1	216	c.178C>T	c.(178-180)Cga>Tga	p.R60*	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	60	Beta/gamma crystallin 'Greek key' 2.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens	p.R59W(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TACTCCCCTCGCCGCAGCAAG	0.567000														233			88		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132554069	132554069	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132554069C>T	uc001ujn.3	+	50	9056	c.8904C>T	c.(8902-8904)ggC>ggT	p.G2968G	EP400_uc021rgq.1_Silent_p.G2967G|EP400_uc001ujm.3_Silent_p.G2887G|EP400_uc001ujp.3_Silent_p.G178G	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3004					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCACCCCTGGCGCGCAGCAGA	0.657000														279			56		0	0	1	0	0
TARBP2	6895	broad.mit.edu	37	12	53898552	53898552	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53898552G>A	uc001sdo.3	+	5	1054	c.566G>A	c.(565-567)cGc>cAc	p.R189H	TARBP2_uc001sdp.3_Missense_Mutation_p.R168H|TARBP2_uc001sdr.3_Missense_Mutation_p.R45H|TARBP2_uc001sdt.3_Missense_Mutation_p.R168H	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	189	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding	p.R189C(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						CCAGCCCACCGCAAAGAATTC	0.587000														121			27		0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47535606	47535606	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47535606G>A	uc002pfw.3	+	3	625	c.429G>A	c.(427-429)ttG>ttA	p.L143L	NPAS1_uc002pfy.3_Silent_p.L143L|NPAS1_uc010xyj.2_5'Flank	NM_002517	NP_002508	Q99742	NPAS1_HUMAN	Homo sapiens neuronal PAS domain protein 1 (NPAS1), mRNA.	143	PAS 1.				central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		GTCACATCTTGCAGGTGAGTG	0.642000											OREG0025585	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		177			45		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78338189	78338189	+	Silent	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78338189A>T	uc003kfs.3	-	6	1116	c.1110T>A	c.(1108-1110)ggT>ggA	p.G370G	DMGDH_uc011cte.1_Silent_p.G220G|DMGDH_uc011ctf.1_Silent_p.G169G|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	370					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		ACGTGATAGGACCATTGACAA	0.453000														114			23		0	0	1	0	0
TIMM22	29928	broad.mit.edu	37	17	902750	902750	+	Splice_Site	SNP	A	G	G	rs141823779		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:902750A>G	uc002fsc.3	+	3	462	c.436_splice	c.e3-2	p.Y146_splice		NM_013337	NP_037469	Q9Y584	TIM22_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 22 homolog (yeast) (TIMM22), nuclear gene encoding mitochondrial protein, mRNA.	146					transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity			breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CCCTGCCCACAGTACCGGGGA	0.502000														181			35		0	0	1	0	0
CRISPLD1	83690	broad.mit.edu	37	8	75898234	75898234	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:75898234C>T	uc003yan.3	+	1	522	c.12C>T	c.(10-12)acC>acT	p.T4T		NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	4						extracellular region		p.C3F(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			TGAAGTGTACCGCGCGGGAGT	0.463000														250			53		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7814233	7814233	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7814233G>A	uc002gjd.2	+	38	6002	c.6000G>A	c.(5998-6000)ggG>ggA	p.G2000G	CHD3_uc002gje.2_Silent_p.G1941G|CHD3_uc002gjf.2_Silent_p.G1907G|CHD3_uc002gjh.2_Silent_p.G518G|CHD3_uc002gjj.2_Silent_p.G104G	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1941					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CACCCGTAGGGGCCCTGGCCG	0.642000														466			37		0	0	1	0	0
SKOR1	390598	broad.mit.edu	37	15	68118532	68118532	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68118532C>A	uc002aqy.1	+	1	339	c.339C>A	c.(337-339)gcC>gcA	p.A113A		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	122					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						GCCGCGTGGCCCTGGGCATCA	0.637000														182			40		6.99958e-10	7.82039e-10	1	1	0
PPAP2B	8613	broad.mit.edu	37	1	56977739	56977739	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:56977739T>C	uc001cyj.2	-	4	1287	c.719A>G	c.(718-720)tAc>tGc	p.Y240C		NM_003713	NP_003704	O14495	LPP3_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA.	240					canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process	Golgi apparatus|adherens junction|integral to membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CAGTCCCGTGTAGAAGGCCAT	0.582000														101			12		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	73980723	73980723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73980723C>T	uc010rrj.2	-	10	1484	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Missense_Mutation_p.A481T			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	481	Fe2OG dioxygenase.					endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTGAGGTTGGCATAGATGAAG	0.582000														122			14		0	0	1	0	0
UGP2	7360	broad.mit.edu	37	2	64109652	64109652	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64109652C>T	uc010ypx.2	+	3	342	c.335C>T	c.(334-336)tCc>tTc	p.S112F	UGP2_uc002scl.3_Missense_Mutation_p.S92F|UGP2_uc002scm.3_Missense_Mutation_p.S103F	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	103					UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AATATATCTTCCGTGTTGAAC	0.403000														155			24		0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120599349	120599349	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:120599349C>T	uc001txo.3	-	21	2394	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	794					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGTTCTCTCGCTTCATGTT	0.527000														190			39		0	0	1	0	0
SSX2IP	117178	broad.mit.edu	37	1	85124057	85124057	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85124057C>A	uc001dki.3	-	9	1348	c.1022G>T	c.(1021-1023)aGc>aTc	p.S341I	SSX2IP_uc001dkf.3_Missense_Mutation_p.S314I|SSX2IP_uc001dkh.3_Missense_Mutation_p.S341I|SSX2IP_uc010orz.2_Missense_Mutation_p.S314I|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.S314I|SSX2IP_uc001dkj.3_Missense_Mutation_p.S341I|SSX2IP_uc009wci.3_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.S337I	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	341					cell adhesion	nucleus|protein complex		p.S341N(2)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTCTGATGCTGTTTGTAAG	0.413000														76			11		1.58986e-06	1.69271e-06	1	1	0
C10orf107	219621	broad.mit.edu	37	10	63525708	63525708	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:63525708C>T	uc010qik.2	+	6	869	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN	Homo sapiens chromosome 10 open reading frame 107 (C10orf107), mRNA.	188										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CCGAGATAAACGAAAAACTGC	0.383000														55			4		0	0	1	0	0
IQCG	84223	broad.mit.edu	37	3	197665522	197665522	+	Missense_Mutation	SNP	G	A	A	rs139671579		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:197665522G>A	uc003fyo.3	-	3	558	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	IQCG_uc003fyn.3_Missense_Mutation_p.R40W|IQCG_uc003fyp.3_Missense_Mutation_p.R138W|IQCG_uc003fyq.4_Missense_Mutation_p.R138W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	138										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ACAGCGAACCGGCCTCTGTGT	0.428000														363			83		0	0	1	0	0
ING2	3622	broad.mit.edu	37	4	184431723	184431723	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184431723G>T	uc003ivs.1	+	1	590	c.461G>T	c.(460-462)aGg>aTg	p.R154M	ING2_uc011ckk.1_Missense_Mutation_p.R114M	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	154					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	DNA binding|chromatin binding|protein complex binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AGACCCCGCAGGCAGCGGACC	0.463000														71			12		0.00136819	0.00139829	1	1	0
DENND5B	160518	broad.mit.edu	37	12	31600696	31600696	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:31600696A>G	uc001rkh.1	-	7	1893	c.1742T>C	c.(1741-1743)tTt>tCt	p.F581S	DENND5B_uc001rki.1_Missense_Mutation_p.F546S|DENND5B_uc001rkj.3_Missense_Mutation_p.F568S	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	546						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCAGACAGAAAGGAAGCCTG	0.378000														13			4		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913879	44913879	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:44913879G>A	uc010skz.1	-	19	2584	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	NELL2_uc001rof.3_Missense_Mutation_p.T769I|NELL2_uc001rog.2_Missense_Mutation_p.T770I|NELL2_uc001roh.2_Missense_Mutation_p.T770I|NELL2_uc009zkd.2_Missense_Mutation_p.T722I|NELL2_uc010sla.1_Missense_Mutation_p.T793I	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	770					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCAAGTCTTGGTGATGTCATT	0.532000														110			15		0	0	1	0	0
ZNF767	79970	broad.mit.edu	37	7	149318233	149318233	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149318233A>G	uc003wfy.3	-	2		c.580T>C			ZNF767_uc003wfx.2_Intron|ZNF767_uc011kuq.1_Non-coding_Transcript					Homo sapiens zinc finger family member 767 (ZNF767), transcript variant 2, non-coding RNA.											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TCAGAGAACTACACAGCCACA	0.577000														153			35		0	0	1	0	0
LOC407835	407835	broad.mit.edu	37	7	128766721	128766721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128766721G>T	uc003voo.3	+	0	397	c.150G>T	c.(148-150)caG>caT	p.Q50H						Homo sapiens mitogen-activated protein kinase kinase 2 pseudogene (LOC407835), non-coding RNA.																		ACGAGCAGCAGAAGCGGCTGG	0.632000														222			36		1.30015e-28	1.63285e-28	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67273834	67273834	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67273834C>A	uc002jif.2	-	17	3760	c.2542G>T	c.(2542-2544)Gca>Tca	p.A848S	ABCA5_uc002jic.2_Missense_Mutation_p.A71S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.A848S|ABCA5_uc002jih.2_Missense_Mutation_p.A848S|ABCA5_uc010dfe.2_Missense_Mutation_p.A848S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	848					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TGAAACTTTGCTATTGTATAC	0.353000														58			13		0.000151284	0.000156809	1	1	0
ZNF193	7746	broad.mit.edu	37	6	28195209	28195209	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28195209G>A	uc010jqz.2	+	1	536	c.347G>A	c.(346-348)tGt>tAt	p.C116Y	ZNF193_uc003nkr.2_Missense_Mutation_p.C116Y|ZNF193_uc003nkq.2_Missense_Mutation_p.C116Y	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	116	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						AGGGAACACTGTCCAGAGAGT	0.512000														71			16		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36102199	36102199	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36102199G>T	uc003zyv.3	+	11	1493	c.1407G>T	c.(1405-1407)aaG>aaT	p.K469N	RECK_uc003zyw.3_Missense_Mutation_p.K341N|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	469						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGATCTGAAGAATTGTATAC	0.343000														89			17		5.3912e-06	5.69533e-06	1	1	0
RSPH9	221421	broad.mit.edu	37	6	43638647	43638647	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43638647C>T	uc003ovx.2	+	5	913	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	RSPH9_uc003ovw.2_Silent_p.G264G	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	0					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCTACGTGGGCACTGGCGAGA	0.532000									Kartagener syndrome					87			28		0	0	1	0	0
TAAR8	83551	broad.mit.edu	37	6	132874819	132874819	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132874819T>A	uc011ecj.2	+	0	988	c.988T>A	c.(988-990)Tta>Ata	p.L330I		NM_053278	NP_444508	Q969N4	TAAR8_HUMAN	Homo sapiens trace amine associated receptor 8 (TAAR8), mRNA.	330						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TGGAGATGTTTTAAAGGCTAG	0.264000														83			19		0	0	1	0	0
PPIG	9360	broad.mit.edu	37	2	170493763	170493763	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170493763C>T	uc002uez.3	+	13	2215	c.1995C>T	c.(1993-1995)taC>taT	p.Y665Y	PPIG_uc010fpx.3_Silent_p.Y650Y|PPIG_uc010fpy.3_Silent_p.Y658Y|PPIG_uc002ufb.3_Silent_p.Y665Y|PPIG_uc002ufd.3_Silent_p.Y662Y	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	665					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAAGAATGTACTCTAAAAGTC	0.358000														59			26		0	0	1	0	0
MLST8	64223	broad.mit.edu	37	16	2256400	2256400	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2256400T>C	uc002coy.3	+	2	562	c.171T>C	c.(169-171)atT>atC	p.I57I	MLST8_uc002cpc.3_Silent_p.I57I|MLST8_uc010uvx.2_5'UTR|MLST8_uc002cpd.3_5'UTR|MLST8_uc002cpb.3_Silent_p.I56I|MLST8_uc002coz.3_Silent_p.I57I|MLST8_uc002cpe.3_Silent_p.I57I|MLST8_uc010uvy.2_Silent_p.I57I|MLST8_uc002cpf.3_Silent_p.I57I|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	57					T cell costimulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCAGCATGATTGCTGCTGCAG	0.582000														157			31		0	0	1	0	0
ARHGDIA	396	broad.mit.edu	37	17	79827416	79827416	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79827416A>G	uc021uff.1	-	3	580	c.274_splice	c.e3+1	p.G92_splice	AK293147_uc021ufe.1_5'Flank|ARHGDIA_uc002kbq.3_Splice_Site_p.G92_splice|ARHGDIA_uc021ufg.1_Splice_Site_p.G92_splice|ARHGDIA_uc010dig.2_Splice_Site	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	92					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGGCACTCACCCGTCAGGT	0.746000														58			12		0	0	1	0	0
RASD1	51655	broad.mit.edu	37	17	17399311	17399311	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17399311C>T	uc002gri.3	-	0	399	c.185G>A	c.(184-186)cGc>cAc	p.R62H	RASD1_uc021trg.1_Missense_Mutation_p.R62H	NM_016084	NP_057168	Q9Y272	RASD1_HUMAN	Homo sapiens RAS, dexamethasone-induced 1 (RASD1), transcript variant 1, mRNA.	62					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						GTAGAACTTGCGGTGGAAGTC	0.647000														195			10		0	0	1	0	0
LCMT1	51451	broad.mit.edu	37	16	25143812	25143812	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:25143812G>A	uc002dnx.1	+	2	453	c.295G>A	c.(295-297)Gca>Aca	p.A99T	LCMT1_uc002dny.1_Missense_Mutation_p.A99T	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	99							S-adenosylmethionine-dependent methyltransferase activity|protein C-terminal carboxyl O-methyltransferase activity|protein binding								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAACCTTGGGGCAGGCATGGA	0.433000														48			9		0	0	1	0	0
ESCO2	157570	broad.mit.edu	37	8	27634227	27634227	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27634227G>A	uc003xgg.3	+	2	485	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Silent_p.K134K	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	134					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		TCTGCTCCAAGAAGAACAACA	0.338000									SC Phocomelia syndrome					64			10		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097083	167097083	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167097083G>T	uc001geb.1	+	4	2731	c.2715G>T	c.(2713-2715)caG>caT	p.Q905H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	905	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTAATTCCCAGAAACCTGAAA	0.493000														78			19		2.37509e-13	2.76693e-13	1	1	0
ZNF749	388567	broad.mit.edu	37	19	57955694	57955694	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57955694A>G	uc002qoq.2	+	2	1432	c.1178A>G	c.(1177-1179)cAc>cGc	p.H393R		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TTCTTTAGTCACCGCTCCACA	0.423000														159			28		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121474	86121474	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121474C>A	uc003ycz.4	+	5	750	c.713C>A	c.(712-714)cCc>cAc	p.P238H	E2F5_uc003yda.4_Missense_Mutation_p.P238H|E2F5_uc010mab.3_Missense_Mutation_p.P77H	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	238					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TCATCTAAGCCCGTGGTTTTT	0.453000														76			13		1.05317e-09	1.17384e-09	1	1	0
WNT3A	89780	broad.mit.edu	37	1	228246984	228246984	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228246984C>T	uc001hrp.2	+	3	984	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	WNT3A_uc001hrq.2_Missense_Mutation_p.R293C	NM_033131	NP_149122	P56704	WNT3A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3A (WNT3A), mRNA.	293					Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway|axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				CTTCGGCACGCGCGACCGCAC	0.692000														33			12		0	0	1	0	0
UTS2R	2837	broad.mit.edu	37	17	80332627	80332627	+	Missense_Mutation	SNP	G	A	A	rs114260139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80332627G>A	uc010wvl.2	+	0	427	c.427G>A	c.(427-429)Gtc>Atc	p.V143I		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	143						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CACGCTGACCGTCATGAGCAG	0.677000														58			23		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14207064	14207064	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14207064C>A	uc011ave.2	-	5	747	c.643G>T	c.(643-645)Gca>Tca	p.A215S	XPC_uc011avf.2_Missense_Mutation_p.A22S|XPC_uc011avg.2_Missense_Mutation_p.A178S	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	215					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGCCATTTGCTAGCAGGCAG	0.527000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					29			12		1.49906e-05	1.573e-05	1	1	0
SPEF2	79925	broad.mit.edu	37	5	35740046	35740046	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35740046A>G	uc003jjo.3	+	21	3200	c.3089A>G	c.(3088-3090)tAc>tGc	p.Y1030C	SPEF2_uc003jjp.1_Missense_Mutation_p.Y516C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1030					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTAGTACCTTACTGGGAACTA	0.338000														66			15		0	0	1	0	0
CAMK1	8536	broad.mit.edu	37	3	9807492	9807492	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807492G>T	uc003bst.3	-	2	351	c.166C>A	c.(166-168)Ctg>Atg	p.L56M	OGG1_uc003bsl.3_Splice_Site_p.G350_splice|OGG1_uc003bsk.3_Splice_Site|OGG1_uc003bsm.3_Splice_Site_p.G317_splice|OGG1_uc003bsn.3_Splice_Site_p.G250_splice|OGG1_uc003bso.3_Splice_Site_p.G189_splice	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	56	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		TTGCCCTCCAGGGCCTCCTTG	0.597000														140			15		2.32078e-09	2.57599e-09	1	1	0
PLEC	5339	broad.mit.edu	37	8	144994963	144994963	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144994963T>C	uc003zaf.1	-	31	9607	c.9437A>G	c.(9436-9438)gAc>gGc	p.D3146G	PLEC_uc003zab.1_Missense_Mutation_p.D3009G|PLEC_uc003zac.1_Missense_Mutation_p.D3013G|PLEC_uc003zad.2_Missense_Mutation_p.D3009G|PLEC_uc003zae.1_Missense_Mutation_p.D2977G|PLEC_uc003zag.1_Missense_Mutation_p.D2987G|PLEC_uc003zah.2_Missense_Mutation_p.D2995G|PLEC_uc003zaj.2_Missense_Mutation_p.D3036G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3146	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCGGCTACGTCTCGCACAGA	0.667000														161			30		0	0	1	0	0
AK094577	0	broad.mit.edu	37	8	145722919	145722919	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145722919G>T	uc003zde.1	-	1	707	c.195C>A	c.(193-195)gcC>gcA	p.A65A	PPP1R16A_uc003zdd.3_Intron|PPP1R16A_uc003zdf.3_Intron					Homo sapiens cDNA FLJ37258 fis, clone BRAMY2010208.																		CAAGGCTGGGGGCTGGGCCTG	0.657000														34			9		0.00448238	0.00455828	1	1	0
RAD54L	8438	broad.mit.edu	37	1	46714235	46714235	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46714235T>G	uc001cpl.2	+	1	766	c.55T>G	c.(55-57)Tcc>Gcc	p.S19A	RAD54L_uc009vye.2_Missense_Mutation_p.S19A	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	19					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TGAAGGCAGGTCCTGTGATGA	0.547000								Direct reversal of damage;Homologous recombination						73			9		0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	211280608	211280608	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:211280608C>A	uc001hib.2	-	1	361	c.191G>T	c.(190-192)aGc>aTc	p.S64I	KCNH1_uc001hic.2_Missense_Mutation_p.S64I	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	64	PAS.				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GCAGGTGCTGCTTTTTTGCAT	0.423000														155			25		3.73988e-18	4.50785e-18	1	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46946460	46946460	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46946460C>T	uc010acl.3	-	2	756	c.151G>A	c.(151-153)Gct>Act	p.A51T	KIAA0226L_uc001vbf.4_Intron|KIAA0226L_uc010tfz.2_Intron|KIAA0226L_uc010acn.3_Intron|KIAA0226L_uc010acm.3_Intron|KIAA0226L_uc001vbe.4_Missense_Mutation_p.A51T|KIAA0226L_uc001vbh.4_Missense_Mutation_p.A51T|KIAA0226L_uc001vbi.4_Intron|KIAA0226L_uc010aco.1_Missense_Mutation_p.A51T	NM_025113	NP_079389	Q9H714	CM018_HUMAN	Homo sapiens KIAA0226-like (KIAA0226L), mRNA.	51										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATCCAGACAGCTTTGTGCCTC	0.532000														70			21		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6647793	6647793	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6647793C>T	uc001mem.1	-	14	6755	c.6354G>A	c.(6352-6354)caG>caA	p.Q2118Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2118	Cadherin 20.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTACTAGGCTGGATGGAGA	0.542000														156			12		0	0	1	0	0
BRDT	676	broad.mit.edu	37	1	92446276	92446276	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:92446276C>A	uc001dol.4	+	9	1782	c.1364C>A	c.(1363-1365)tCt>tAt	p.S455Y	BRDT_uc010osz.2_Missense_Mutation_p.S459Y|BRDT_uc001dok.4_Missense_Mutation_p.S455Y|BRDT_uc009wdf.3_Missense_Mutation_p.S382Y|BRDT_uc010otb.2_Missense_Mutation_p.S409Y|BRDT_uc010ota.2_Missense_Mutation_p.S409Y|BRDT_uc001dom.4_Missense_Mutation_p.S455Y	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAAGAGAAGTCTAAAAAGGAA	0.323000														49			10		0.00829132	0.00840732	1	1	0
OR51I2	390064	broad.mit.edu	37	11	5475109	5475109	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5475109C>T	uc010qzf.2	+	0	472	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGACCCCTTGCGCTATGCAAC	0.453000														197			32		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62135346	62135346	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62135346T>C	uc002jdz.2	-	11	1327	c.1214A>G	c.(1213-1215)aAc>aGc	p.N405S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	405					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GTCAACCAGGTTGATAACCTT	0.552000														18			6		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42830566	42830566	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:42830566G>T	uc010goq.3	+	14	2216	c.1870G>T	c.(1870-1872)Gac>Tac	p.D624Y	MX1_uc002yzh.3_Missense_Mutation_p.D624Y|MX1_uc002yzi.3_Missense_Mutation_p.D624Y	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	624	GED.				induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GCAGGACAAGGACACCTACAG	0.617000														231			61		3.76997e-23	4.66409e-23	1	1	0
KIAA1430	57587	broad.mit.edu	37	4	186111567	186111567	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111567C>A	uc003ixf.4	-	1	931	c.784G>T	c.(784-786)Gac>Tac	p.D262Y	KIAA1430_uc003ixg.3_Missense_Mutation_p.D262Y	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	262										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GGGCTAATGTCTGGAGTTGAT	0.398000														17			9		2.17888e-05	2.28139e-05	1	1	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74621580	74621580	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74621580G>A	uc002jsh.3	-	8	1809	c.1635C>T	c.(1633-1635)ggC>ggT	p.G545G	ST6GALNAC1_uc002jsi.3_Silent_p.G413G|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	545					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AGCGCTCATGGCCCTCAGTGA	0.483000														69			16		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1074171	1074171	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1074171C>T	uc002lqz.1	+	6	1090	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L	HMHA1_uc010xgd.1_Silent_p.L303L|HMHA1_uc010xge.1_Silent_p.L127L|HMHA1_uc002lra.1_Silent_p.L127L|HMHA1_uc002lrb.1_Silent_p.L170L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGCACTGCTGTATGCCAA	0.652000														133			25		0	0	1	0	0
FBXO38	81545	broad.mit.edu	37	5	147781654	147781654	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147781654G>A	uc003lpf.1	+	3	492	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	124						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448000														174			29		0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4936666	4936666	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4936666G>T	uc002gap.4	-	3	1737	c.1024C>A	c.(1024-1026)Ctg>Atg	p.L342M	SLC52A1_uc002gao.4_Missense_Mutation_p.L342M|SLC52A1_uc010ckw.3_Missense_Mutation_p.L220M|SLC52A1_uc010ckx.3_Intron	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	342						integral to plasma membrane	receptor activity|riboflavin transporter activity										AGACCAACCAGCCCTGCCAGG	0.632000														199			48		5.69309e-43	7.24702e-43	1	1	0
IGF2-AS	51214	broad.mit.edu	37	11	2167572	2167572	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2167572G>A	uc010qxi.2	+	1	518	c.402G>A	c.(400-402)ccG>ccA	p.P134P	IGF2_uc001lvh.3_Intron|IGF2_uc001lvi.3_Intron|IGF2-AS_uc001lvk.2_Non-coding_Transcript|IGF2-AS_uc001lvl.2_Intron					Homo sapiens IGF2 antisense RNA 1 (non-protein coding) (IGF2-AS1), transcript variant 1, non-coding RNA.																		GCGCCCCTCCGTCACCCCCTG	0.682000														219			63		0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9380032	9380032	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9380032C>T	uc003jek.2	-	2	739	c.27G>A	c.(25-27)tgG>tgA	p.W9*		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	9					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TTGAGAACAGCCATGCTATAA	0.547000														205			33		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262687	45262687	+	Missense_Mutation	SNP	G	A	A	rs142280884	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:45262687G>A	uc003jok.3	-	7	2034	c.2009C>T	c.(2008-2010)gCg>gTg	p.A670V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	670						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A670A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGGCTGGTCGCTGTGTACAC	0.587000														128			29		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5053443	5053443	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5053443C>T	uc002cye.2	+	10	1351	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	391	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACTCAACATGCGGCACCTGTG	0.637000														151			37		0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66990684	66990684	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:66990684C>T	uc001stk.3	-	1	320	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	GRIP1_uc010sta.1_Intron|GRIP1_uc001stm.3_Missense_Mutation_p.A27T	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	27					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTCTGGCTGGCGGATTTAGTG	0.443000														120			15		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187534419	187534419	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187534419C>A	uc003izf.3	-	12	9495	c.9307G>T	c.(9307-9309)Gga>Tga	p.G3103*		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3103	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AATCTTCCTCCTCCATCTGTG	0.483000										HNSCC(5;0.00058)				105			34		6.04164e-23	7.46519e-23	1	1	0
EXD2	55218	broad.mit.edu	37	14	69695578	69695578	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69695578G>A	uc001xky.3	+	3	625	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	EXD2_uc001xkt.3_Missense_Mutation_p.A2T|EXD2_uc001xkv.3_Missense_Mutation_p.A127T|EXD2_uc001xkw.3_Missense_Mutation_p.A2T|EXD2_uc001xku.3_5'UTR|EXD2_uc001xkx.3_Missense_Mutation_p.A2T|EXD2_uc010aqt.3_Missense_Mutation_p.A127T|EXD2_uc010tte.2_Missense_Mutation_p.A127T	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	2					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.M126L(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						TCTACAAATGGCCTCCCCAAG	0.498000														73			11		0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40062789	40062789	+	Silent	SNP	G	A	A	rs115877497	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40062789G>A	uc002hyg.3	-	7	1021	c.858C>T	c.(856-858)gtC>gtT	p.V286V	ACLY_uc002hyh.3_Silent_p.V286V|ACLY_uc002hyi.3_Silent_p.V340V|ACLY_uc010wfx.2_Silent_p.V340V|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	286					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ACCTGTACACGACAGAGGCGC	0.602000														185			52		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763508	77763508	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:77763508C>A	uc003yau.2	+	9	4738	c.4351C>A	c.(4351-4353)Ctg>Atg	p.L1451M	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1406M	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1406						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCACCCTGAACTGAGTGAAGC	0.502000										HNSCC(33;0.089)				52			11		1.08611e-07	1.17606e-07	1	1	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920351	135920351	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135920351T>C	uc010fnf.3	+	20	2463	c.2420T>C	c.(2419-2421)aTc>aCc	p.I807T	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.I807T|RAB3GAP1_uc010fng.3_Missense_Mutation_p.I632T|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	807						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTTAAGAAGATCATAAAGCAG	0.323000														89			32		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956202	42956202	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956202A>C	uc003cmk.2	+	3	901	c.715A>C	c.(715-717)Act>Cct	p.T239P	ZNF662_uc003cmi.2_Missense_Mutation_p.T213P|ZNF662_uc003cmj.2_Missense_Mutation_p.T105P	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACACCAGAAAACTCATAATGG	0.378000														133			32		0	0	1	0	0
PAPLN	89932	broad.mit.edu	37	14	73721304	73721304	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73721304G>A	uc010ttx.2	+	11	1549	c.1386G>A	c.(1384-1386)gcG>gcA	p.A462A	PAPLN_uc001xnw.4_Silent_p.A435A|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.A462A	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	462	TSP type-1 4.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ATACCGCAGCGTGCTCCTTGG	0.612000														273			58		0	0	1	0	0
B4GALT5	9334	broad.mit.edu	37	20	48260145	48260145	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:48260145T>C	uc002xuu.4	-	3	601	c.407A>G	c.(406-408)tAc>tGc	p.Y136C		NM_004776	NP_004767	O43286	B4GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5 (B4GALT5), mRNA.	136					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TTCATGAATGTAATCCATTCC	0.463000														118			28		0	0	1	0	0
PNLIPRP3	119548	broad.mit.edu	37	10	118231349	118231349	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118231349T>C	uc001lcl.4	+	9	1231	c.1130T>C	c.(1129-1131)gTa>gCa	p.V377A		NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	Homo sapiens pancreatic lipase-related protein 3 (PNLIPRP3), mRNA.	377	PLAT.				lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTTCTTCGTGTAGGCGGGGCA	0.478000														166			14		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34095265	34095265	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34095265G>A	uc002hjy.1	-	6	1240	c.981C>T	c.(979-981)ttC>ttT	p.F327F	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	328					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.F327F(2)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGATGGCATCGAAGGAAGAGT	0.532000														82			16		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563056	75563056	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563056C>T	uc002fej.1	-	4	1566	c.1245G>A	c.(1243-1245)tcG>tcA	p.S415S	CHST5_uc002fei.3_Silent_p.S409S|CHST5_uc021tlk.1_Silent_p.S409S	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	409					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						CTCAGTCAGGCGATGCCCAGC	0.657000														91			5		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15826526	15826526	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15826526G>T	uc002ddx.3	-	27	3674	c.3567C>A	c.(3565-3567)gcC>gcA	p.A1189A	MYH11_uc002ddv.3_Silent_p.A1189A|MYH11_uc002ddw.3_Silent_p.A1182A|MYH11_uc002ddy.3_Silent_p.A1182A|MYH11_uc010bvg.3_Silent_p.A1014A	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1182					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTCATCCAGGGCCTTCTTCA	0.597000			T	CBFB	AML									189			37		9.73076e-26	1.21367e-25	1	1	0
MEX3A	92312	broad.mit.edu	37	1	156047459	156047459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047459C>T	uc001fnd.4	-	1	469	c.469G>A	c.(469-471)Gcc>Acc	p.A157T		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	157	KH 1.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					GCCCTCAAGGCCTTAATCTTG	0.567000														41			10		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102364643	102364643	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102364643C>A	uc003knt.3	+	24	3172	c.2799C>A	c.(2797-2799)ggC>ggA	p.G933G	PAM_uc003knw.3_Silent_p.G932G|PAM_uc003kns.3_Silent_p.G825G|PAM_uc003knu.3_Silent_p.G864G|PAM_uc011cuz.2_Silent_p.G834G|PAM_uc003knv.3_Silent_p.G846G|PAM_uc003knz.3_Silent_p.G154G	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	932	Interaction with RASSF9 (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCCGTAAGGGCTACAGTCGAA	0.448000														101			18		6.33239e-15	7.46874e-15	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16460967	16460967	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16460967G>A	uc001aya.2	-	7	1833	c.1678C>T	c.(1678-1680)Cgc>Tgc	p.R560C		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	560					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ACGAACCTGCGGTGGATAAAG	0.607000														58			8		0	0	1	0	0
H6PD	9563	broad.mit.edu	37	1	9324603	9324603	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9324603G>T	uc001apt.3	+	4	2324	c.2051G>T	c.(2050-2052)aGc>aTc	p.S684I		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	684	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	GTGGCCAACAGCAGCTTCGAC	0.667000														213			34		9.78485e-24	1.21317e-23	1	1	0
MCM3AP	8888	broad.mit.edu	37	21	47685237	47685237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47685237C>T	uc002zir.1	-	11	3268	c.3232G>A	c.(3232-3234)Gag>Aag	p.E1078K	MCM3AP_uc002ziq.1_Missense_Mutation_p.E5K	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1078					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	p.E1078K(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GTCCCTACCTCGTCAGAGTAC	0.607000														84			23		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150695754	150695754	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150695754G>A	uc003wif.3	+	6	1098	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	NOS3_uc011kuy.2_Missense_Mutation_p.V62M|NOS3_uc011kva.2_Missense_Mutation_p.V268M|NOS3_uc011kuz.2_Missense_Mutation_p.V268M|NOS3_uc011kvb.2_Missense_Mutation_p.V268M	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	268	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGCCAACGTGGAGATCAC	0.662000														35			4		0	0	1	0	0
COL27A1	85301	broad.mit.edu	37	9	117002747	117002747	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117002747C>T	uc011lxl.2	+	20	2815	c.2815C>T	c.(2815-2817)Cgt>Tgt	p.R939C	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	939	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GCCGGGACCCCGTGGGCAGCT	0.667000														274			80		0	0	1	0	0
AFTPH	54812	broad.mit.edu	37	2	64779607	64779607	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:64779607G>T	uc002sdc.3	+	0	1031	c.999G>T	c.(997-999)aaG>aaT	p.K333N	AFTPH_uc002scz.3_Missense_Mutation_p.K333N|AFTPH_uc002sda.3_Missense_Mutation_p.K333N|AFTPH_uc002sdb.3_Missense_Mutation_p.K333N	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	333					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TTCAGTCAAAGGCTTGGAGTT	0.383000														144			25		5.49717e-05	5.72795e-05	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36897987	36897987	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897987C>T	uc003cgj.3	-	11	3342	c.3094G>A	c.(3094-3096)Ggg>Agg	p.G1032R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1032					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCACTTCGCCCAATAAGGATG	0.547000														171			33		0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087198	207087198	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207087198C>A	uc001hey.3	-	1	458	c.279G>T	c.(277-279)caG>caT	p.Q93H	FAIM3_uc010prz.2_Intron|FAIM3_uc021pif.1_Missense_Mutation_p.Q93H|FAIM3_uc010psa.2_Intron	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	93	Ig-like.				anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TTTCTGTCAGCTGTGTTACCT	0.527000														211			11		0.000673444	0.000690401	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27010820	27010820	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27010820G>A	uc010crt.3	+	17	2407	c.2215G>A	c.(2215-2217)Gaa>Aaa	p.E739K	SUPT6H_uc002hby.3_Missense_Mutation_p.E739K	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	739					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGAAGCCAAGGAATATGTCAT	0.493000														65			18		0	0	1	0	0
PLA2G15	23659	broad.mit.edu	37	16	68293398	68293398	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68293398C>T	uc002evr.3	+	5	1160	c.1077C>T	c.(1075-1077)ggC>ggT	p.G359G	PLA2G15_uc010vld.2_3'UTR|PLA2G15_uc010vle.2_Silent_p.G265G|PLA2G15_uc010vlf.2_Silent_p.G159G|PLA2G15_uc002evs.3_Silent_p.G180G	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	359					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						TTGGTGACGGCGATGGTACTG	0.587000														133			26		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44069708	44069708	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44069708C>T	uc001mxw.1	+	0	178	c.122C>T	c.(121-123)aCg>aTg	p.T41M	ACCSL_uc009ykr.2_5'UTR	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	41							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						CAGGCCATGACGGAGCACTTC	0.592000														161			32		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	845717	845717	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845717G>A	uc003gbm.4	-	24	3528	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_uc003gbn.4_Missense_Mutation_p.A1031V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.A963V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1110					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642000														82			24		0	0	1	0	0
DIRAS2	54769	broad.mit.edu	37	9	93375522	93375522	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93375522G>A	uc022bjs.1	-	0	588	c.588C>T	c.(586-588)tgC>tgT	p.C196C	DIRAS2_uc004aqx.1_Silent_p.C196C	NM_017594	NP_060064	Q96HU8	DIRA2_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 2 (DIRAS2), mRNA.	196					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|large_intestine(6)|lung(3)|skin(2)	12						ACATGATCACGCACTTGCCTT	0.562000														145			28		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411541	51411541	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411541C>T	uc001nhi.2	-	0	908	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T285T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AATTTCTCAACGTATATATTA	0.328000														64			12		0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23977640	23977640	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:23977640A>C	uc002rek.4	-	25	4379	c.4083T>G	c.(4081-4083)gcT>gcG	p.A1361A	ATAD2B_uc002rei.4_Silent_p.A1356A|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Silent_p.A529A	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	1361							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTACTTTAGAAGCACCTATAA	0.373000														65			15		0	0	1	0	0
INTS8	55656	broad.mit.edu	37	8	95869141	95869141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95869141C>T	uc003yhb.3	+	14	2015	c.1889C>T	c.(1888-1890)gCa>gTa	p.A630V	INTS8_uc003yha.1_Missense_Mutation_p.A630V|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.A457V	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	630					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACAGGGCAGGCAGGAGAGAGA	0.468000														129			29		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15271773	15271773	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15271773C>T	uc002nan.3	-	32	6742	c.6666G>A	c.(6664-6666)ccG>ccA	p.P2222P		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2222					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGCCGCCGGGTACTCCT	0.711000														30			7		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618405	122618405	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122618405C>T	uc001ubq.3	+	8	1711	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	MLXIP_uc001ubr.3_Missense_Mutation_p.R286W|MLXIP_uc001ubs.1_Missense_Mutation_p.R142W|MLXIP_uc001ubt.3_Missense_Mutation_p.R142W	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.R535L(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TCCCCAGCCACGGTTAACTTT	0.612000														51			9		0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1918684	1918684	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1918684G>A	uc003gdz.4	+	3	1023	c.847G>A	c.(847-849)Gct>Act	p.A283T	WHSC1_uc003geb.4_Missense_Mutation_p.A283T|WHSC1_uc003gec.4_Missense_Mutation_p.A283T|WHSC1_uc003ged.4_Missense_Mutation_p.A283T|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gdx.3_Missense_Mutation_p.A283T|WHSC1_uc003gdy.1_Missense_Mutation_p.A283T|WHSC1_uc010icd.1_Missense_Mutation_p.A283T|WHSC1_uc003gea.1_Missense_Mutation_p.A283T|WHSC1_uc010ice.1_Missense_Mutation_p.A283T|WHSC1_uc003geh.1_Missense_Mutation_p.A283T	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	283	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GAGCCTCGTAGCTTTTGAAGG	0.433000			T	IGH@	MM									78			17		0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94054952	94054952	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94054952C>T	uc003ung.1	+	42	3283	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	938					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.R938H(2)|p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCCCCAGGTCGCGATGGTCA	0.483000										HNSCC(75;0.22)				117			18		0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119203366	119203366	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:119203366C>A	uc003ica.2	-	12	2400	c.2353G>T	c.(2353-2355)Gcc>Tcc	p.A785S		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	785	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGGGAATGGCTGCTTGTTGT	0.433000														135			25		4.87955e-14	5.71551e-14	1	1	0
PAPSS1	9061	broad.mit.edu	37	4	108615089	108615089	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:108615089G>T	uc003hyk.3	-	2	333	c.249C>A	c.(247-249)tgC>tgA	p.C83*	PAPSS1_uc011cfh.1_Non-coding_Transcript	NM_005443	NP_005434	O43252	PAPS1_HUMAN	Homo sapiens 3'-phosphoadenosine 5'-phosphosulfate synthase 1 (PAPSS1), mRNA.	83					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	ATP binding|adenylylsulfate kinase activity|sulfate adenylyltransferase (ATP) activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		CCAGAGTGTAGCATGGAATAC	0.443000														65			14		1.37285e-15	1.62742e-15	1	1	0
GALNTL5	168391	broad.mit.edu	37	7	151668056	151668056	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151668056G>T	uc003wkp.3	+	2	544	c.274G>T	c.(274-276)Gaa>Taa	p.E92*	GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	92						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TACAAACCCAGAACTTCATAA	0.338000														44			6		0.00116845	0.00119477	1	1	0
C19orf44	84167	broad.mit.edu	37	19	16612313	16612313	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16612313G>A	uc002neh.1	+	1	783	c.710G>A	c.(709-711)gGc>gAc	p.G237D	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.G237D|C19orf44_uc002neg.3_Missense_Mutation_p.G237D|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	237										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						ACGAATCAAGGCTTCAGCAGC	0.333000														125			27		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43768414	43768414	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43768414G>T	uc002rsw.4	-	20	3500	c.3148C>A	c.(3148-3150)Ctg>Atg	p.L1050M	THADA_uc010far.3_Missense_Mutation_p.L319M|THADA_uc002rsx.4_Missense_Mutation_p.L1050M|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.L759M|THADA_uc010fat.1_Missense_Mutation_p.L197M|THADA_uc002rta.2_Missense_Mutation_p.L760M	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1050							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAACATACCAGCACCATCTGC	0.403000														297			50		1.04682e-39	1.33076e-39	1	1	0
KCNJ6	3763	broad.mit.edu	37	21	38997550	38997550	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38997550G>A	uc011aej.1	-	3	1236	c.1183C>T	c.(1183-1185)Ctg>Ttg	p.L395L	KCNJ6_uc002ywo.2_Silent_p.L395L	NM_002240	NP_002231	P48051	IRK6_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA.	395					synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	TCAGTCTCCAGTTCTGCATGT	0.502000														200			47		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720594	140720594	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140720594G>A	uc003ljk.2	+	0	2241	c.2056G>A	c.(2056-2058)Gat>Aat	p.D686N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D686N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	687					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)			CATACCCAACGATTCGGACCT	0.682000														478			92		0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12251090	12251090	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12251090G>T	uc001att.3	+	2	344	c.255G>T	c.(253-255)caG>caT	p.Q85H	TNFRSF1B_uc001atu.3_5'UTR|TNFRSF1B_uc009vnk.3_Non-coding_Transcript|MIR4632_uc021ogi.1_5'Flank	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	85					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	CATACACCCAGCTCTGGAACT	0.567000														273			32		1.74807e-11	1.99175e-11	1	1	0
ME1	4199	broad.mit.edu	37	6	83937109	83937109	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83937109C>T	uc003pjy.3	-	10	1485	c.1220G>A	c.(1219-1221)aGt>aAt	p.S407N	ME1_uc011dzb.2_Missense_Mutation_p.S332N|ME1_uc011dzc.2_Missense_Mutation_p.S241N	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	407					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGTTGGATTACTCAAAGCAAA	0.333000														72			5		0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55746142	55746142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:55746142G>A	uc010gip.1	-	6	1698	c.1169C>T	c.(1168-1170)aCg>aTg	p.T390M		NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	390					BMP signaling pathway|SMAD protein signal transduction|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of MAP kinase activity|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of glomerular mesangial cell proliferation|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTTGGGCACCGTTTCCGGGTT	0.517000														93			18		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43777353	43777353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43777353C>T	uc001ciu.3	+	9	1522	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	TIE1_uc010okd.2_Missense_Mutation_p.P449S|TIE1_uc010oke.2_Missense_Mutation_p.P404S|TIE1_uc009vwq.3_Missense_Mutation_p.P405S|TIE1_uc010okf.1_Missense_Mutation_p.P94S|TIE1_uc010okg.2_Missense_Mutation_p.P94S	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	449	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCCCCCGTGCCCCTGGCTGC	0.627000														224			24		0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57193927	57193927	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57193927G>T	uc003hbk.2	+	10	4050	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	KIAA1211_uc010iha.2_Missense_Mutation_p.R1213M	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1220										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTGGCCAAAAGGAAAGCAAAG	0.532000														265			54		1.27862e-28	1.60599e-28	1	1	0
KIFC3	3801	broad.mit.edu	37	16	57794323	57794323	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57794323G>T	uc002emq.3	-	16	2435	c.2238C>A	c.(2236-2238)tcC>tcA	p.S746S	KIFC3_uc010vhw.2_Silent_p.S644S|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Silent_p.S607S|KIFC3_uc010vhx.2_Silent_p.S604S|KIFC3_uc010cdf.3_Silent_p.S607S|KIFC3_uc002emo.4_Silent_p.S607S|KIFC3_uc010vhy.2_Silent_p.S688S|KIFC3_uc002emp.3_Silent_p.S746S|KIFC3_uc010vhz.2_Silent_p.S768S	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	746					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				TCTCCACGGGGGACACCTAGG	0.642000														178			32		1.22384e-17	1.4705e-17	1	1	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394541	138394541	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138394541C>A	uc003vuf.3	-	20	2496	c.2258_splice	c.e20-1	p.Q753_splice	ATP6V0A4_uc003vug.3_Splice_Site_p.Q753_splice|ATP6V0A4_uc003vuh.3_Splice_Site_p.Q753_splice	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	753					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGACAGTTCTGCAAGGTAC	0.368000														191			26		8.24728e-16	9.79314e-16	1	1	0
CDH23	64072	broad.mit.edu	37	10	73571308	73571308	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73571308C>T	uc001jrx.4	+	61	9620	c.9230C>T	c.(9229-9231)gCc>gTc	p.A3077V	CDH23_uc001jsg.4_Missense_Mutation_p.A840V|CDH23_uc001jsh.4_Missense_Mutation_p.A840V|CDH23_uc001jsi.4_Missense_Mutation_p.A840V|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3080					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TTCCTGGCCGCCATGCTCTTT	0.657000														198			45		0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77037156	77037156	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77037156G>T	uc002lmx.3	+	12	1385	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.E457D|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.E151D	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	457					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.P456Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTATCCCAGAGGAACTTGGGC	0.453000														145			31		6.04164e-23	7.46519e-23	1	1	0
PTK6	5753	broad.mit.edu	37	20	62166298	62166298	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62166298G>A	uc002yfg.3	-	1	385	c.345C>T	c.(343-345)gtC>gtT	p.V115V	PTK6_uc011aay.2_Intron|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.2_Silent_p.V115V	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	115	SH2.					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)			CACCCGACAGGACGTAGTCGG	0.706000														36			20		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505184	26505184	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26505184A>C	uc003nif.4	+	2	516	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	153	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						TCAGTATGCAAGTTCAAGAGA	0.498000														72			17		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161761	2161761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161761C>T	uc002cos.1	-	14	3616	c.3407G>A	c.(3406-3408)gGc>gAc	p.G1136D	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.G1136D	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1136	PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CACCAGGACGCCGTCACTCAC	0.682000														49			10		0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2186913	2186913	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2186913G>T	uc001lvq.3	-	11	1297	c.1278C>A	c.(1276-1278)tcC>tcA	p.S426S	TH_uc001lvp.3_Silent_p.S422S|TH_uc001lvr.3_Silent_p.S395S|TH_uc010qxj.2_Silent_p.S399S|TH_uc001lvs.3_Silent_p.S301S|TH_uc001lvt.3_Silent_p.S305S|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	426					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCTCCCCGTAGGAGGACAGCA	0.677000														72			13		9.31168e-06	9.81217e-06	1	1	0
TEAD4	7004	broad.mit.edu	37	12	3120191	3120191	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3120191G>A	uc010sej.2	+	3	540	c.248G>A	c.(247-249)cGc>cAc	p.R83H	TEAD4_uc010sek.2_Missense_Mutation_p.R83H|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	83					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTGATTGCCCGCTACATCAAG	0.627000														151			40		0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53186985	53186985	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53186985G>A	uc001say.3	-	2	955	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	297	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCAGCTGTACGTTTATTGATT	0.443000														21			9		0	0	1	0	0
SFT2D2	375035	broad.mit.edu	37	1	168211761	168211761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168211761G>A	uc001gfi.4	+	7	529	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	156					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					GAAGTGTTTTGCCGTGTGTCT	0.458000														177			30		0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21928254	21928254	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21928254G>A	uc001bev.3	-	17	1848	c.1830C>T	c.(1828-1830)agC>agT	p.S610S	RAP1GAP_uc001bew.3_Silent_p.S589S|RAP1GAP_uc001bey.3_Silent_p.S551S|RAP1GAP_uc001bex.3_Silent_p.S525S	NM_001145657	NP_001139129	P47736	RPGP1_HUMAN	Homo sapiens RAP1 GTPase activating protein (RAP1GAP), transcript variant 2, mRNA.	525					regulation of Ras GTPase activity|signal transduction	Golgi membrane|cytosol|membrane fraction	GTPase activator activity|GTPase activity|Ras GTPase binding|protein homodimerization activity	p.Y609C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		AGACGTGCCCGCTGTCTGGGG	0.667000														70			15		0	0	1	0	0
CNGA4	1262	broad.mit.edu	37	11	6261612	6261612	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6261612C>T	uc001mco.3	+	3	703	c.588C>T	c.(586-588)ttC>ttT	p.F196F	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Silent_p.F156F	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	196					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTGGGCTTCGGGCGTGACG	0.552000														342			71		0	0	1	0	0
MBD2	8932	broad.mit.edu	37	18	51750412	51750412	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51750412C>T	uc002lfg.2	-	0	747	c.518G>A	c.(517-519)gGc>gAc	p.G173D	MBD2_uc002lfh.2_Missense_Mutation_p.G173D|SNORA37_uc002lfi.1_5'Flank	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	173	MBD.				transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	ATCGCTCTTGCCAGCACTTAG	0.667000														56			7		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20843925	20843925	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20843925C>T	uc001vxe.3	-	42	6392	c.6352G>A	c.(6352-6354)Gat>Aat	p.D2118N	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.D1461N|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.D2010N|TEP1_uc010tlh.1_Missense_Mutation_p.D456N	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2118					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGTAGGTTATCTTTGGTCCAG	0.582000														76			10		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160063213	160063213	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160063213G>T	uc003lym.1	-	10	1951	c.1104C>A	c.(1102-1104)ttC>ttA	p.F368L	ATP10B_uc003lyp.2_Missense_Mutation_p.F368L|ATP10B_uc011deg.1_Missense_Mutation_p.F412L|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Missense_Mutation_p.F340L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	368					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTGAGGAACATGTAGA	0.488000														92			18		6.94344e-10	7.75807e-10	1	1	0
GLUD2	2747	broad.mit.edu	37	X	120182660	120182660	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:120182660C>T	uc004eto.3	+	0	1199	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	374					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTGGAGGTCGACTGTGACA	0.502000														259			76		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522454	23522454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522454C>T	uc003jgo.3	+	6	732	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	184					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTATAGCCTGCGAGAAAGAAA	0.458000										HNSCC(3;0.000094)				176			26		0	0	1	0	0
OR8U8	504189	broad.mit.edu	37	11	56143190	56143190	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56143190T>G	uc001nit.2	+	0	91	c.91T>G	c.(91-93)Ttc>Gtc	p.F31V		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CTTTGTGCTATTCTTATCCAT	0.448000														186			38		0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20517328	20517328	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20517328T>G	uc002wrz.3	-	24	3529	c.3386A>C	c.(3385-3387)gAg>gCg	p.E1129A	RALGAPA2_uc002wry.3_Missense_Mutation_p.E744A|RALGAPA2_uc010zsg.2_Missense_Mutation_p.E577A	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1129					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTAATGGCCTCATTTACTTC	0.428000														53			13		0	0	1	0	0
PERP	64065	broad.mit.edu	37	6	138417631	138417631	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:138417631G>A	uc003qht.2	-	2	398	c.215_splice	c.e2-1	p.A72_splice		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.	72					apoptosis|cell adhesion	Golgi apparatus|desmosome|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		TCTACCCCACGCTGCAAGAAA	0.443000														36			6		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509737	24509737	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:24509737T>G	uc003jgr.2	-	6	1700	c.1194A>C	c.(1192-1194)gaA>gaC	p.E398D	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	398	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTGTGCCCACTTCAATATCTT	0.403000										HNSCC(23;0.051)				94			25		0	0	1	0	0
GRHL2	79977	broad.mit.edu	37	8	102585977	102585977	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:102585977A>C	uc010mbu.3	+	5	1146	c.816A>C	c.(814-816)aaA>aaC	p.K272N	GRHL2_uc011lhi.1_Missense_Mutation_p.K272N	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	272						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTCAACAAAGGACAGTTCT	0.502000														80			16		0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210796957	210796957	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210796957G>T	uc010psr.2	+	9	1441	c.1336G>T	c.(1336-1338)Gta>Tta	p.V446L	HHAT_uc009xcx.3_Missense_Mutation_p.V445L|HHAT_uc010psq.2_Missense_Mutation_p.V308L|HHAT_uc009xcy.3_Missense_Mutation_p.V380L|HHAT_uc010pss.2_Missense_Mutation_p.V400L|HHAT_uc010pst.2_Missense_Mutation_p.V382L|HHAT_uc001hhz.4_Missense_Mutation_p.V445L|HHAT_uc021pip.1_Missense_Mutation_p.V445L|HHAT_uc010psu.2_Missense_Mutation_p.V380L|HHAT_uc001hia.4_Missense_Mutation_p.V135L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	445					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTCCAACCTGGTATTTCTTGG	0.483000														414			164		1.29601e-68	1.65635e-68	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37045656	37045656	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37045656G>A	uc003jkl.4	+	36	6954	c.6455G>A	c.(6454-6456)cGg>cAg	p.R2152Q	NIPBL_uc003jkk.4_Missense_Mutation_p.R2152Q	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2152					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCACTATGTCGGCATTTTGAT	0.363000														203			66		0	0	1	0	0
LRRC39	127495	broad.mit.edu	37	1	100624921	100624921	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100624921A>C	uc001dsw.1	-	4	469	c.270T>G	c.(268-270)ctT>ctG	p.L90L	LRRC39_uc001dsx.1_Silent_p.L90L|LRRC39_uc001dsy.1_Silent_p.L90L|LRRC39_uc001dsz.1_Silent_p.L90L	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	90										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGTTCTATGAAGTTGCCATT	0.353000														77			21		0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111643154	111643154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:111643154C>T	uc003kpv.1	-	1	407	c.133G>A	c.(133-135)Gta>Ata	p.V45I	EPB41L4A_uc003kpw.1_Missense_Mutation_p.V45I	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383000														79			13		0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572106	27572106	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27572106G>A	uc001zbg.2	+	3	675	c.421G>A	c.(421-423)Gct>Act	p.A141T	GABRG3_uc001zbf.3_Missense_Mutation_p.A141T	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	141					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AACCGCAGAGGCTCACTGGAT	0.453000														91			17		0	0	1	0	0
VIPR2	7434	broad.mit.edu	37	7	158835849	158835849	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158835849C>T	uc003woh.3	-	5	660	c.474G>A	c.(472-474)agG>agA	p.R158R	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	158					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		GGATGTAATTCCTGGTGCAGT	0.557000														57			12		0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034236	11034236	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034236G>T	uc002mqc.3	-	7	896	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Missense_Mutation_p.L257M	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	257						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						GTGGCCACCAGCCTGGTGTCC	0.692000														147			27		3.73988e-18	4.50785e-18	1	1	0
MAPRE1	22919	broad.mit.edu	37	20	31424452	31424452	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31424452G>A	uc002wyh.3	+	3	419	c.280G>A	c.(280-282)Gac>Aac	p.D94N		NM_012325	NP_036457	Q15691	MARE1_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA.	94	CH.				G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule	centrosome|cortical microtubule cytoskeleton|cytosol	microtubule plus-end binding|protein C-terminus binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8						AATTCCTGTGGACAAATTAGT	0.363000														61			15		0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61344641	61344641	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61344641C>A	uc002saw.4	+	18	2208	c.1905C>A	c.(1903-1905)tcC>tcA	p.S635S	KIAA1841_uc002sax.4_Silent_p.S489S|KIAA1841_uc002say.3_Silent_p.S635S	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	635										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			CCACAAGATCCTTGAGATTCA	0.343000														70			9		2.17888e-05	2.28139e-05	1	1	0
MBD1	4152	broad.mit.edu	37	18	47806310	47806310	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47806310C>T	uc002lem.4	-	1	490	c.53G>A	c.(52-54)cGc>cAc	p.R18H	MBD1_uc002lef.3_5'Flank|MBD1_uc002leg.3_Missense_Mutation_p.R18H|MBD1_uc010dow.2_Missense_Mutation_p.R18H|MBD1_uc010xdi.2_Missense_Mutation_p.R44H|MBD1_uc010xdj.2_Missense_Mutation_p.R18H|MBD1_uc002lel.4_Missense_Mutation_p.R18H|MBD1_uc002len.3_Missense_Mutation_p.R18H|MBD1_uc002leh.4_Missense_Mutation_p.R18H|MBD1_uc002lei.4_Missense_Mutation_p.R18H|MBD1_uc002lej.4_Missense_Mutation_p.R18H|MBD1_uc002lek.4_Missense_Mutation_p.R18H|MBD1_uc021ukd.1_Missense_Mutation_p.R18H|MBD1_uc021uke.1_Missense_Mutation_p.R18H|MBD1_uc010xdk.2_Missense_Mutation_p.R18H|MBD1_uc010dox.1_Missense_Mutation_p.R18H|MBD1_uc002leo.2_Missense_Mutation_p.R18H	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	18	MBD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						AAAGACTTCGCGGCGCTTCCA	0.632000														83			17		0	0	1	0	0
SERAC1	84947	broad.mit.edu	37	6	158579383	158579383	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158579383C>T	uc003qrc.2	-	1	155	c.13G>A	c.(13-15)Gct>Act	p.A5T	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	5					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACGCAATAAGCAGCCAGGGAC	0.378000														75			12		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153694277	153694277	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153694277G>A	uc004flm.3	+	14	2706	c.2533_splice	c.e14-1	p.I845_splice		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	845	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					CTGCTCCACAGATCCACCCTC	0.677000														99			28		0	0	1	0	0
RFX5	5993	broad.mit.edu	37	1	151316355	151316355	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151316355C>A	uc001exv.1	-	8	773	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	RFX5_uc001exw.1_Nonsense_Mutation_p.E187*|RFX5_uc010pcx.1_Nonsense_Mutation_p.E147*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	187						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGGCCCATTTCTGGCTGAAGT	0.532000														90			30		4.22769e-11	4.79992e-11	1	1	0
LRRC7	57554	broad.mit.edu	37	1	70226019	70226019	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:70226019C>T	uc001dep.3	+	0	162	c.132C>T	c.(130-132)ttC>ttT	p.F44F	LRRC7_uc001deo.1_Silent_p.F82F|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	44						centrosome|focal adhesion|nucleolus	protein binding	p.F44F(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TCTTTAACTTCGAACGAACAT	0.393000														83			8		0	0	1	0	0
ARHGAP15	55843	broad.mit.edu	37	2	143959710	143959710	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143959710G>T	uc002tvm.4	+	2	324	c.173G>T	c.(172-174)aGa>aTa	p.R58I	ARHGAP15_uc010zbl.1_Missense_Mutation_p.R58I	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	58					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		CAGATATCCAGACACAGAAGG	0.303000														90			19		4.96729e-08	5.40616e-08	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140221663	140221663	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140221663G>A	uc003lhs.2	+	0	757	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E253K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	268	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAATATTCGAAAACGCAGA	0.433000														115			12		0	0	1	0	0
MEX3C	51320	broad.mit.edu	37	18	48703868	48703868	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48703868A>G	uc002lfc.4	-	1	1194	c.833T>C	c.(832-834)gTt>gCt	p.V278A		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	278	KH 1.					cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCCAGTGACAACAAAAATGGG	0.423000														94			22		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65688350	65688350	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65688350G>A	uc002aou.1	-	6	1359	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	IGDCC4_uc002aot.1_5'UTR	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	383	Ig-like C2-type 4.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CGCCGCCCTGGACCTTGACGC	0.731000														23			6		0	0	1	0	0
BTNL9	153579	broad.mit.edu	37	5	180475061	180475061	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180475061G>A	uc003mmt.3	+	2	475	c.244G>A	c.(244-246)Gtg>Atg	p.V82M	BTNL9_uc011dhi.1_Missense_Mutation_p.V13M	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	Homo sapiens butyrophilin-like 9 (BTNL9), mRNA.	82	Ig-like V-type.					integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCTTCAATGTGGTACACCT	0.617000														65			22		0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561836	44561836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44561836C>T	uc003tlb.3	-	10	2699	c.2643G>A	c.(2641-2643)tcG>tcA	p.S881S	NPC1L1_uc011kbw.2_Intron|NPC1L1_uc003tlc.3_Silent_p.S881S|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	881					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)	CAAGCAGGTACGAGTCCTAGG	0.542000														49			10		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858386	9858386	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:9858386T>G	uc010uym.2	-	13	3325	c.3015A>C	c.(3013-3015)aaA>aaC	p.K1005N	GRIN2A_uc002czo.4_Missense_Mutation_p.K1005N|GRIN2A_uc010uyn.2_Missense_Mutation_p.K848N|GRIN2A_uc002czr.4_Missense_Mutation_p.K1005N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1005					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1004Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGAGTTCGCTTTGGATTCTG	0.507000														154			38		0	0	1	0	0
ATN1	1822	broad.mit.edu	37	12	7047972	7047972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7047972G>A	uc001qrw.1	+	6	3083	c.2846G>A	c.(2845-2847)gGc>gAc	p.G949D	ATN1_uc001qrx.1_Missense_Mutation_p.G949D	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	949					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CTCAAGCCTGGCTTTGAGGTG	0.647000														220			43		0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43669671	43669671	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43669671G>A	uc002lbr.1	-	4	601	c.511C>T	c.(511-513)Cga>Tga	p.R171*	ATP5A1_uc010dnl.1_Nonsense_Mutation_p.R121*|ATP5A1_uc002lbs.1_Nonsense_Mutation_p.R121*|ATP5A1_uc002lbt.1_Nonsense_Mutation_p.R171*|TRNA_Lys_uc021ujj.1_5'Flank|ATP5A1_uc010xct.1_Nonsense_Mutation_p.R121*|ATP5A1_uc010dnm.1_Non-coding_Transcript	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	171					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGACCAACTCGCCTACGCGTC	0.438000														124			21		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100161557	100161557	+	Silent	SNP	G	A	A	rs35771030	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100161557G>A	uc003uvf.3	+	9	1408	c.1272G>A	c.(1270-1272)ccG>ccA	p.P424P		NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	424	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.P423S(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTCCCCCCGCAGACCCCGC	0.602000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		200			53		0	0	1	0	0
ST8SIA4	7903	broad.mit.edu	37	5	100191813	100191813	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:100191813A>C	uc003knk.3	-	3	1119	c.791T>G	c.(790-792)gTc>gGc	p.V264G		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 (ST8SIA4), transcript variant 1, mRNA.	264					N-glycan processing|axon guidance	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TTACCCTCTGACAGCATGAAT	0.403000														89			16		0	0	1	0	0
SOX8	30812	broad.mit.edu	37	16	1035032	1035032	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1035032C>T	uc002ckn.3	+	2	1102	c.987C>T	c.(985-987)acC>acT	p.T329T		NM_014587	NP_055402	P57073	SOX8_HUMAN	Homo sapiens SRY (sex determining region Y)-box 8 (SOX8), mRNA.	329					Sertoli cell development|adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				CGTCGCCCACCGAGACGGGTC	0.751000														37			13		0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38154704	38154704	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38154704C>T	uc001uwo.4	-	10	1641	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	POSTN_uc010tet.2_Missense_Mutation_p.R36H|POSTN_uc001uwp.4_Missense_Mutation_p.R508H|POSTN_uc001uwr.3_Missense_Mutation_p.R508H|POSTN_uc001uwq.3_Missense_Mutation_p.R508H|POSTN_uc010teu.1_Missense_Mutation_p.R508H|POSTN_uc010tev.1_Missense_Mutation_p.R508H|POSTN_uc010tew.1_Missense_Mutation_p.R508H|POSTN_uc010tex.1_Missense_Mutation_p.R423H	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	508	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.R508C(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TTACCTAAAGCGCTTATCTTG	0.438000														196			20		0	0	1	0	0
SYNGR4	23546	broad.mit.edu	37	19	48876806	48876806	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48876806G>A	uc002piz.3	+	2	377	c.126G>A	c.(124-126)ctG>ctA	p.L42L		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	42	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		CCTCCCTGCTGACCGACGGCT	0.597000														157			41		0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268034	52268034	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52268034G>A	uc003pao.4	+	1	197	c.23G>A	c.(22-24)cGc>cAc	p.R8H	PAQR8_uc021zal.1_Missense_Mutation_p.R8H	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	8					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.R8H(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					ATCTTGGAGCGCCTGAGCACC	0.622000														76			21		0	0	1	0	0
ZNF629	23361	broad.mit.edu	37	16	30794890	30794890	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30794890C>T	uc002dzs.1	-	2	967	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			TGTGGGATCGCTGGTGCTTGA	0.642000														168			36		0	0	1	0	0
KIAA0182	23199	broad.mit.edu	37	16	85701835	85701835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85701835G>A	uc002fix.3	+	13	3294	c.3220G>A	c.(3220-3222)Gcc>Acc	p.A1074T	KIAA0182_uc002fiw.3_Missense_Mutation_p.A970T|KIAA0182_uc002fiy.3_Missense_Mutation_p.A1001T|KIAA0182_uc002fiz.3_Missense_Mutation_p.A216T|KIAA0182_uc010cho.3_Missense_Mutation_p.A254T	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1074							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						CTCCAGCCGCGCCCCTCCACC	0.647000														281			46		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590474	140590474	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140590474C>A	uc003liz.3	+	0	2184	c.1995C>A	c.(1993-1995)ggC>ggA	p.G665G	PCDHB12_uc011dak.2_Silent_p.G328G	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	665	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGGACGGCTTCTCCCAGC	0.706000														314			77		2.16659e-41	2.75635e-41	1	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655993	46655993	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655993G>A	uc003bhh.3	-	0	3227	c.3227C>T	c.(3226-3228)aCt>aTt	p.T1076I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1076					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TATGGATACAGTACAGTGGGG	0.512000														67			8		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81942147	81942147	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81942147C>A	uc002fgt.3	+	16	1862	c.1684C>A	c.(1684-1686)Ctg>Atg	p.L562M	PLCG2_uc010chg.1_Missense_Mutation_p.L562M	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	562	SH2 1.				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						TGGCACCTTCCTGGTTCGGGA	0.572000														76			12		3.27435e-08	3.57295e-08	1	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135095825	135095825	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095825A>G	uc010qvc.1	-	16	2752	c.2395T>C	c.(2395-2397)Tta>Cta	p.L799L	TUBGCP2_uc001lmf.1_Silent_p.L364L|TUBGCP2_uc001lmg.1_Silent_p.L771L|TUBGCP2_uc010qvd.1_Silent_p.L641L|TUBGCP2_uc009ybk.1_Silent_p.L794L|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	771					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TCGCCATCTAATTTCATGCTC	0.582000														63			15		0	0	1	0	0
SLC25A1	6576	broad.mit.edu	37	22	19163678	19163678	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19163678C>T	uc021wlb.1	-	7	927	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	SLC25A1_uc002zoy.3_Missense_Mutation_p.V198M|SLC25A1_uc002zoz.3_Missense_Mutation_p.V301M	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	301					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		AGCAGCTTCACCACTTCATCA	0.602000														197			40		0	0	1	0	0
SMTN	6525	broad.mit.edu	37	22	31484712	31484712	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31484712C>T	uc003ajl.2	+	4	563	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	SMTN_uc003ajk.2_Missense_Mutation_p.R108C|SMTN_uc003ajm.2_Missense_Mutation_p.R108C|SMTN_uc011ale.2_Missense_Mutation_p.R162C|SMTN_uc011alf.2_Missense_Mutation_p.R164C|SMTN_uc003ajn.2_Missense_Mutation_p.R100C|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	108					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GTATGAGGAGCGCAAGCTGAT	0.642000														55			15		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533803	92533803	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92533803G>A	uc001pdj.4	+	8	7641	c.7624G>A	c.(7624-7626)Gat>Aat	p.D2542N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2542	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGCCAAGGATCGATTCCT	0.493000										TCGA Ovarian(4;0.039)				40			12		0	0	1	0	0
SLC36A1	206358	broad.mit.edu	37	5	150853243	150853243	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150853243G>T	uc003luc.3	+	7	950	c.733G>T	c.(733-735)Gac>Tac	p.D245Y	SLC36A1_uc003lub.1_Missense_Mutation_p.D245Y|SLC36A1_uc010jhw.1_Missense_Mutation_p.D245Y	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	245					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	GAGGATCCCAGACCCCAGCCA	0.458000														308			73		2.9056e-39	3.69264e-39	1	1	0
MSTO1	55154	broad.mit.edu	37	1	155582030	155582030	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155582030G>A	uc001fky.3	+	7	769	c.736G>A	c.(736-738)Gca>Aca	p.A246T	MSTO1_uc001fkw.3_Missense_Mutation_p.A246T|MSTO1_uc001fkx.3_Missense_Mutation_p.A246T|MSTO1_uc001fld.4_Missense_Mutation_p.A68T|MSTO1_uc009wqs.3_Missense_Mutation_p.A125T|MSTO1_uc010pgf.2_Missense_Mutation_p.A191T|MSTO1_uc001fla.3_Missense_Mutation_p.A65T|MSTO1_uc001flb.3_Missense_Mutation_p.A115T|MSTO1_uc001flc.3_Missense_Mutation_p.A68T	NM_018116	NP_060586	Q9BUK6	MSTO1_HUMAN	Homo sapiens misato homolog 1 (Drosophila) (MSTO1), mRNA.	246					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex		p.A245V(1)		breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CGCGAAGGCGGCAGAGCTGCT	0.542000														102			39		0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560750	62560750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560750G>A	uc002yhf.3	+	2	426	c.193G>A	c.(193-195)Gcc>Acc	p.A65T	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	65	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAACGCGCACGCCATCCTCAC	0.547000														145			39		0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79832926	79832926	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:79832926T>A	uc003hlk.3	+	15	3391	c.3225T>A	c.(3223-3225)caT>caA	p.H1075Q	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_Missense_Mutation_p.H87Q	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	1075						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGCCCTTCCATTCTCCAGACC	0.537000														158			44		0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108018094	108018094	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108018094G>A	uc001pjy.3	+	11	1337	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	421					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	AGGTGCTTCTGCCATGCTAAT	0.478000														120			18		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005025	37005025	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005025G>T	uc002oee.2	-	3	2038	c.1116C>A	c.(1114-1116)ttC>ttA	p.F372L	ZNF260_uc010eey.2_Missense_Mutation_p.F372L|ZNF260_uc002oef.2_Missense_Mutation_p.F372L|ZNF260_uc002oed.2_Missense_Mutation_p.F372L|ZNF260_uc021uti.1_Missense_Mutation_p.F372L	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	372					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CAAGGGTTGAGAACTGAGAAA	0.423000														121			20		4.96729e-08	5.40616e-08	1	1	0
ASH1L	55870	broad.mit.edu	37	1	155348095	155348095	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155348095G>A	uc009wqq.3	-	9	6804	c.6324C>T	c.(6322-6324)ggC>ggT	p.G2108G	ASH1L_uc001fkt.3_Silent_p.G2103G	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2108	AWS.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CATCAACACAGCCCTTCCTGG	0.423000														245			72		0	0	1	0	0
PRKCSH	5589	broad.mit.edu	37	19	11560084	11560084	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11560084C>T	uc010xlz.2	+	16	1801	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	PRKCSH_uc002mrt.3_Missense_Mutation_p.R482C|PRKCSH_uc002mru.3_Missense_Mutation_p.R479C|PRKCSH_uc010dyb.3_Missense_Mutation_p.R479C	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	482					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCCCCAGGTGCGCCTCCTGTG	0.692000														198			38		0	0	1	0	0
PROM2	150696	broad.mit.edu	37	2	95941711	95941711	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95941711G>A	uc002suk.3	+	2	461	c.328G>A	c.(328-330)Gct>Act	p.A110T	PROM2_uc002suh.2_Missense_Mutation_p.A110T|PROM2_uc002sui.3_Missense_Mutation_p.A110T|PROM2_uc002suj.3_5'UTR|PROM2_uc002sul.3_5'UTR	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTGGTATGCGCTGTGATCGC	0.687000														58			18		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55537454C>T	uc003xsd.1	+	3	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328000														52			11		0	0	1	0	0
RNF39	80352	broad.mit.edu	37	6	30041026	30041026	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30041026C>A	uc003npe.3	-	3	653	c.591_splice	c.e3-1	p.R197_splice	RNF39_uc003npd.3_Splice_Site_p.R197_splice	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	Homo sapiens ring finger protein 39 (RNF39), transcript variant 1, mRNA.	197						cytoplasm	zinc ion binding										GACTTCAAATCTACACAGATG	0.458000														108			22		1.36565e-18	1.65157e-18	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121262977	121262977	+	Silent	SNP	C	T	T	rs113536778		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:121262977C>T	uc003yox.3	+	21	2989	c.2724C>T	c.(2722-2724)agC>agT	p.S908S	COL14A1_uc003yoy.3_Silent_p.S586S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	908	Fibronectin type-III 7.				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)			CAGGCTTCAGCGACGCCCTGA	0.478000														70			15		0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26724644	26724644	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26724644G>A	uc002rhk.3	-	7	870	c.743C>T	c.(742-744)gCt>gTt	p.A248V		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	248	C2 1.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGCCCAGCACTTGGCTC	0.552000														101			21		0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283034	63283034	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63283034G>A	uc001nxc.2	+	8	1058	c.717_splice	c.e8-1	p.H239_splice	LGALS12_uc001nxa.2_Splice_Site_p.H238_splice|LGALS12_uc001nxb.2_Splice_Site_p.H229_splice|LGALS12_uc001nxd.2_Splice_Site_p.H177_splice|LGALS12_uc001nxe.2_Splice_Site_p.H168_splice|LGALS12_uc009yot.2_Splice_Site_p.H198_splice	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	238	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						GCTTCCTGCAGTTTTACTGTG	0.622000														140			19		0	0	1	0	0
VTN	7448	broad.mit.edu	37	17	26695591	26695591	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26695591C>A	uc002hbc.3	-	5	1079	c.930G>T	c.(928-930)cgG>cgT	p.R310R	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	310					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	CCCAGCTGTCCCGCTGCATCA	0.557000														159			36		1.08052e-11	1.23412e-11	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7406566	7406566	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7406566G>T	uc002ghf.4	+	16	3269	c.2883G>T	c.(2881-2883)gaG>gaT	p.E961D		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	961					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding	p.R960W(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGATGCGGGAGGATCGGGAGG	0.612000														105			22		1.50039e-11	1.71053e-11	1	1	0
MN1	4330	broad.mit.edu	37	22	28193973	28193973	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28193973C>T	uc003adj.3	-	0	3514	c.2559G>A	c.(2557-2559)ccG>ccA	p.P853P		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCCCTCTGGCGGGTTCTTCT	0.652000			T	ETV6	"""AML, meningioma"""									343			64		0	0	1	0	0
LRRC48	83450	broad.mit.edu	37	17	17907797	17907797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17907797G>A	uc021trj.1	+	10	1499	c.1120G>A	c.(1120-1122)Gag>Aag	p.E374K	LRRC48_uc010vxe.2_Missense_Mutation_p.E374K|LRRC48_uc021tri.1_Missense_Mutation_p.E374K|LRRC48_uc021trk.1_Missense_Mutation_p.E374K	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	374						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					GCAGCTGGTGGAGCAGCTGGA	0.552000														34			4		0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56204384	56204384	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56204384G>A	uc002qlw.3	+	8	1587	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P	EPN1_uc002qlv.3_Silent_p.P389P|EPN1_uc010etd.3_Silent_p.P414P|EPN1_uc002qlx.3_Silent_p.P501P	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	Homo sapiens epsin 1 (EPN1), transcript variant 2, mRNA.	415	Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CGGCACTGCCGACCTCCGGGA	0.677000														261			61		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47769729	47769729	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47769729C>A	uc002zji.4	+	7	1446	c.1339C>A	c.(1339-1341)Ctg>Atg	p.L447M	PCNT_uc002zjj.3_Missense_Mutation_p.L329M|PCNT_uc010gqk.1_Non-coding_Transcript	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	447	Glu-rich.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGAAAAACAGCTGGAGGTGGG	0.418000														104			9		0.00621372	0.00630477	1	1	0
ELMO1	9844	broad.mit.edu	37	7	37264604	37264604	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37264604T>A	uc022abv.1	-	8	1291	c.581A>T	c.(580-582)gAc>gTc	p.D194V	ELMO1_uc011kbc.2_Missense_Mutation_p.D98V|ELMO1_uc003tfk.2_Missense_Mutation_p.D194V|ELMO1_uc010kxg.2_Missense_Mutation_p.D194V	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	194					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GATCGAGATGTCTATGGCTGA	0.502000														69			18		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99515346	99515346	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99515346A>C	uc001vnt.2	-	31	3564	c.3509T>G	c.(3508-3510)tTt>tGt	p.F1170C	DOCK9_uc001vnw.2_Missense_Mutation_p.F1169C|DOCK9_uc021rlw.1_Missense_Mutation_p.F1169C|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.F1170C|DOCK9_uc010tis.1_Missense_Mutation_p.F1169C|DOCK9_uc010tit.1_Missense_Mutation_p.F1170C|DOCK9_uc010tiq.1_Missense_Mutation_p.F148C|DOCK9_uc010afu.1_Missense_Mutation_p.F1016C	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1170					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCAGACCAAACAGAGGCAG	0.498000														12			3		0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102007	81102007	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81102007A>C	uc001szf.2	+	0	600	c.509A>C	c.(508-510)aAa>aCa	p.K170T		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	170					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACAGACCCAAACAAGAAAAT	0.562000														108			17		0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	68937536	68937536	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68937536G>A	uc002arj.4	+	1	347	c.53G>A	c.(52-54)cGg>cAg	p.R18Q	CORO2B_uc021spj.1_Missense_Mutation_p.R13Q|CORO2B_uc010bic.3_Missense_Mutation_p.R13Q	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	18					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	p.R18Q(2)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCAAGTTCCGGAATGTCTAC	0.612000														87			27		0	0	1	0	0
NUDCD1	84955	broad.mit.edu	37	8	110283254	110283254	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110283254T>C	uc003ynb.4	-	7	1390	c.1279A>G	c.(1279-1281)Aca>Gca	p.T427A	NUDCD1_uc003yna.3_Missense_Mutation_p.T398A|NUDCD1_uc010mcl.3_Missense_Mutation_p.T340A	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	427										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			GTTTTTAATGTATTGCCATCA	0.299000														90			33		0	0	1	0	0
ROMO1	140823	broad.mit.edu	37	20	34288758	34288758	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34288758G>T	uc002xdy.3	+	2	317	c.170G>T	c.(169-171)gGg>gTg	p.G57V	NFS1_uc002xdt.2_5'Flank|NFS1_uc010zvl.2_5'Flank|NFS1_uc010zvk.2_5'Flank|NFS1_uc002xdw.2_5'Flank|NFS1_uc002xdx.3_5'Flank|ROMO1_uc010gfm.3_Missense_Mutation_p.G57V	NM_080748	NP_542786	P60602	ROMO1_HUMAN	Homo sapiens reactive oxygen species modulator 1 (ROMO1), nuclear gene encoding mitochondrial protein, mRNA.	57					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						GGCGGCATTGGGAAAACCATG	0.502000														127			27		1.39806e-14	1.64448e-14	1	1	0
C19orf43	79002	broad.mit.edu	37	19	12842217	12842217	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12842217C>T	uc002muu.3	-	1	422	c.364G>A	c.(364-366)Ggg>Agg	p.G122R		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.	122								p.G121D(1)|p.G122E(1)		endometrium(2)|large_intestine(2)	4						AGTTTGTTCCCGCCTCTGCGT	0.597000														121			33		0	0	1	0	0
PALM	5064	broad.mit.edu	37	19	746591	746591	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746591C>T	uc002lpm.1	+	8	1135	c.941C>T	c.(940-942)aCc>aTc	p.T314I	PALM_uc002lpn.1_Missense_Mutation_p.T270I|PALM_uc010xfu.1_Missense_Mutation_p.T179I	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	314					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		GAGGCCGAGACCAAGAAGGTG	0.652000														111			15		0	0	1	0	0
FAM108A1	81926	broad.mit.edu	37	19	1881373	1881373	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1881373G>A	uc002luf.3	-	1	599	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	FAM108A1_uc002lud.3_Missense_Mutation_p.R65C|FAM108A1_uc002lue.3_Missense_Mutation_p.R65C|FAM108A1_uc002lug.3_Missense_Mutation_p.R65C	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA.	65						extracellular region	hydrolase activity			endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(11;0.000137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTCCAGCGCCCGGGTGCG	0.731000														80			16		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179758500	179758500	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179758500A>C	uc003mlw.1	-	4	492	c.394T>G	c.(394-396)Ttt>Gtt	p.F132V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	132	Glutamine amidotransferase type-2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTTACCAGAAATTTCCTCAGA	0.438000														33			11		0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44110540	44110540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44110540C>T	uc002ikc.3	-	12	3214	c.2743G>A	c.(2743-2745)Gca>Aca	p.A915T	KANSL1_uc002ikd.3_Missense_Mutation_p.A915T|KANSL1_uc010dav.3_Missense_Mutation_p.A914T|KANSL1_uc010wkb.2_Missense_Mutation_p.A246T|KANSL1_uc010wkc.2_Missense_Mutation_p.A183T	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	915						MLL1 complex	protein binding										GCGAAGGCTGCGTCGGATAGG	0.592000														23			9		0	0	1	0	0
DNAJC5	80331	broad.mit.edu	37	20	62560765	62560765	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62560765G>A	uc002yhf.3	+	2	441	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DNAJC5_uc002yhh.3_Non-coding_Transcript	NM_025219	NP_079495	Q9H3Z4	DNJC5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 (DNAJC5), mRNA.	70	J.				neurotransmitter secretion|protein folding	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|melanosome|plasma membrane	heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCTCACGGACGCCACAAAAAG	0.557000														174			42		0	0	1	0	0
UBTD1	80019	broad.mit.edu	37	10	99330200	99330200	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:99330200A>G	uc001knv.1	+	2	797	c.604A>G	c.(604-606)Aca>Gca	p.T202A	ANKRD2_uc001knw.3_5'Flank|ANKRD2_uc009xvu.3_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	Homo sapiens ubiquitin domain containing 1 (UBTD1), mRNA.	202	Ubiquitin-like.									central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		CACAGACCGCACACGGCTCCA	0.627000														149			31		0	0	1	0	0
HAUS2	55142	broad.mit.edu	37	15	42853482	42853482	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42853482A>G	uc001zqe.3	+	3	331	c.271A>G	c.(271-273)Act>Gct	p.T91A	HAUS2_uc010udi.2_Missense_Mutation_p.T60A|HAUS2_uc001zqf.3_5'UTR	NM_018097	NP_060567	Q9NVX0	HAUS2_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 2 (HAUS2), transcript variant 1, mRNA.	91					G2/M transition of mitotic cell cycle|cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|cytosol|microtubule|spindle				endometrium(1)|large_intestine(1)|lung(1)	3						GAAGTGTCATACTCTGCAAAG	0.363000														71			11		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84056473	84056473	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056473T>C	uc002fhg.1	-	5	712	c.712A>G	c.(712-714)Atc>Gtc	p.I238V		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	238					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGCAGTAGATGGAGACGGCA	0.567000														64			4		0	0	1	0	0
PCYT1B	9468	broad.mit.edu	37	X	24625913	24625913	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:24625913C>T	uc004dbi.3	-	2	516	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PCYT1B_uc004dbk.4_Missense_Mutation_p.A95T|PCYT1B_uc004dbj.3_Missense_Mutation_p.A77T	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	95	Catalytic (Potential).					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	TGCATAAGGGCTCTTGCATGA	0.423000														23			10		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24123083	24123083	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24123083C>T	uc002zxx.3	+	4	676	c.654C>T	c.(652-654)ggC>ggT	p.G218G	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	218					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				ATGAATTTGGCCACGTGCTGG	0.612000														86			26		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58569416	58569416	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58569416C>T	uc002ybe.3	+	10	1849	c.1538C>T	c.(1537-1539)gCt>gTt	p.A513V	CDH26_uc002ybf.1_Missense_Mutation_p.A93V|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_5'Flank|CDH26_uc002ybi.3_5'Flank	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	513					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGTGAGTCTGCTGTGCATGAG	0.552000														103			26		0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34916615	34916615	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34916615C>T	uc002hnb.3	+	4	747	c.431C>T	c.(430-432)tCc>tTc	p.S144F	GGNBP2_uc002hna.3_Missense_Mutation_p.S144F	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	144					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTAATTAGGTCCAAACTAAAT	0.294000														51			12		0	0	1	0	0
FASTK	10922	broad.mit.edu	37	7	150776915	150776915	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150776915C>T	uc003wix.1	-	1	275	c.177G>A	c.(175-177)caG>caA	p.Q59Q	FASTK_uc003wiw.1_Intron|FASTK_uc003wiy.1_Intron|FASTK_uc003wiz.1_Silent_p.Q59Q|FASTK_uc003wja.1_Silent_p.Q25Q	NM_006712	NP_006703	Q14296	FASTK_HUMAN	Homo sapiens Fas-activated serine/threonine kinase (FASTK), transcript variant 1, mRNA.	59					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACAGCAGGGCTGTACTGGAG	0.637000														25			7		0	0	1	0	0
RNASEH2B	79621	broad.mit.edu	37	13	51522132	51522132	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:51522132T>C	uc001vfa.4	+	7	1025	c.626T>C	c.(625-627)aTt>aCt	p.I209T	RNASEH2B_uc001vfb.4_Missense_Mutation_p.I209T	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	209					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		GAGGATTATATTCGTTATGCC	0.303000														148			35		0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54778643	54778643	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54778643T>C	uc002qfb.3	-	13	1957	c.1691A>G	c.(1690-1692)cAg>cGg	p.Q564R	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.Q563R|LILRB2_uc010yet.2_Missense_Mutation_p.Q448R	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	564					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGTGCAGCTGGGCGTAGGT	0.652000														160			51		0	0	1	0	0
SLC38A2	54407	broad.mit.edu	37	12	46758265	46758265	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:46758265G>T	uc001rpg.3	-	9	1220	c.780C>A	c.(778-780)acC>acA	p.T260T	SLC38A2_uc010sli.2_Silent_p.T98T|SLC38A2_uc001rph.3_Silent_p.T160T	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	260					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GCTGTGTTAAGGTGGTGTTTA	0.368000														262			25		1.38267e-23	1.71352e-23	1	1	0
NOX5	79400	broad.mit.edu	37	15	69324134	69324134	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69324134T>C	uc002ars.2	+	3	643	c.602T>C	c.(601-603)aTg>aCg	p.M201T	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.M155T|NOX5_uc002arp.2_Missense_Mutation_p.M183T|NOX5_uc010bid.2_Missense_Mutation_p.M166T|NOX5_uc010bie.2_Missense_Mutation_p.M1T|NOX5_uc002arr.2_Missense_Mutation_p.M173T|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	201					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCGGAGTCATGGAGAACCTG	0.662000														41			12		0	0	1	0	0
CTSA	5476	broad.mit.edu	37	20	44521862	44521862	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44521862C>T	uc002xqh.3	+	6	1032	c.658C>T	c.(658-660)Ctg>Ttg	p.L220L	NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Silent_p.L202L|CTSA_uc010zxi.2_Silent_p.L203L|CTSA_uc002xqi.3_Non-coding_Transcript	NM_000308	NP_001121167	P10619	PPGB_HUMAN	Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA.	202					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTCACAGGGGCTGGCTGTGGG	0.552000														100			13		0	0	1	0	0
TMEM196	256130	broad.mit.edu	37	7	19765216	19765216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:19765216C>T	uc011jyg.2	-	2	465	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498000														78			50		0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884752	22884752	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22884752C>T	uc003xcu.2	-	6	1123	c.830G>A	c.(829-831)aGt>aAt	p.S277N	TNFRSF10B_uc003xcs.1_Missense_Mutation_p.S42N|TNFRSF10B_uc011kzq.1_Missense_Mutation_p.S97N|TNFRSF10B_uc003xcv.2_Missense_Mutation_p.S175N|TNFRSF10B_uc003xct.2_Missense_Mutation_p.S248N	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	277					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTGCAAGATACTCACGATCTC	0.547000														94			22		0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158672615	158672615	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158672615C>T	uc003woe.4	+	4	972	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	WDR60_uc010lqv.3_Non-coding_Transcript	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	272										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TGATGAGAGGCACCAAAGCAA	0.423000														56			25		0	0	1	0	0
ABHD16A	7920	broad.mit.edu	37	6	31658380	31658380	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31658380C>A	uc003nvy.2	-	10	923	c.844_splice	c.e10-1	p.V282_splice	ABHD16A_uc003nvx.2_Splice_Site_p.V63_splice|ABHD16A_uc011dny.2_Splice_Site_p.V249_splice|ABHD16A_uc010jtc.2_Splice_Site_p.V63_splice|ABHD16A_uc011dnz.2_Splice_Site_p.V63_splice	NM_021160	NP_066983	O95870	ABHGA_HUMAN	Homo sapiens abhydrolase domain containing 16A (ABHD16A), transcript variant 1, mRNA.	282						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						AGCAGATCACCTAGGAAGGAG	0.592000														136			31		3.1745e-13	3.69426e-13	1	1	0
DIP2C	22982	broad.mit.edu	37	10	410494	410494	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:410494G>A	uc001ifp.3	-	19	2387	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	DIP2C_uc009xhi.1_Missense_Mutation_p.P152L|DIP2C_uc010pzz.1_Missense_Mutation_p.P87L	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	766						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TTCACTGATCGGAGCCCCGGA	0.577000														134			30		0	0	1	0	0
SNX14	57231	broad.mit.edu	37	6	86256893	86256893	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:86256893G>A	uc003pkr.3	-	11	1238	c.1045C>T	c.(1045-1047)Cgt>Tgt	p.R349C	SNX14_uc003pkp.3_Missense_Mutation_p.R212C|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.R297C|SNX14_uc003pks.3_Missense_Mutation_p.R305C|SNX14_uc003pkt.3_Missense_Mutation_p.R349C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	349	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTCATAAAACGAAATAAAAGA	0.338000														37			9		0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36558779	36558779	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36558779C>A	uc001bzt.3	+	5	937	c.884C>A	c.(883-885)cCt>cAt	p.P295H		NM_017825	NP_060295	Q9NX46	ARHL2_HUMAN	Homo sapiens ADP-ribosylhydrolase like 2 (ADPRHL2), nuclear gene encoding mitochondrial protein, mRNA.	295						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CCTGAGATCCCTTCTGCCTTC	0.557000														124			36		4.62619e-21	5.66726e-21	1	1	0
ANPEP	290	broad.mit.edu	37	15	90340856	90340856	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90340856T>A	uc002bop.4	-	14	2399	c.2107A>T	c.(2107-2109)Agc>Tgc	p.S703C		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	703	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	TTGAAGTAGCTCAGGCTGCTC	0.572000														260			42		0	0	1	0	0
RFWD3	55159	broad.mit.edu	37	16	74678318	74678318	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74678318C>T	uc002fda.3	-	5	1119	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_uc010cgq.3_Missense_Mutation_p.V341I	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN	Homo sapiens ring finger and WD repeat domain 3 (RFWD3), mRNA.	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458000														175			41		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	433368	433368	+	Silent	SNP	G	A	A	rs140090602		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:433368G>A	uc003bot.3	+	22	3444	c.2802G>A	c.(2800-2802)caG>caA	p.Q934Q	CHL1_uc003bou.3_Silent_p.Q918Q|CHL1_uc003bow.2_Silent_p.Q918Q|CHL1_uc011asi.2_Silent_p.Q934Q	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	918	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACCTGAACAGCCAACTTTTC	0.299000														61			10		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72863044	72863044	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72863044C>A	uc010wrl.2	-	2	348	c.261G>T	c.(259-261)caG>caT	p.Q87H	FDXR_uc010wri.2_Intron|FDXR_uc010wrj.2_Intron|FDXR_uc002jlw.3_Intron|FDXR_uc002jlx.3_Intron|FDXR_uc002jly.3_Intron|FDXR_uc010wrk.2_Intron|FDXR_uc010wrm.2_Intron|FDXR_uc002jlz.3_Intron|FDXR_uc002jmb.3_Intron	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	59					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GAGAGAGAGGCTGGGACGCCC	0.632000														28			6		3.59834e-05	3.75534e-05	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79323618	79323618	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79323618G>A	uc010mpk.3	-	7	3696	c.3572C>T	c.(3571-3573)gCc>gTc	p.A1191V	PRUNE2_uc022bih.1_Missense_Mutation_p.A1013V	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1191					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTCATCAGAGGCAGGGAGCTC	0.498000														118			21		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46911190	46911190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46911190G>A	uc002zhi.3	+	20	2680	c.2659G>A	c.(2659-2661)Gga>Aga	p.G887R	COL18A1_uc002zhg.3_Missense_Mutation_p.G707R	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1122	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TGGCCCCCCCGGACCCCCGGG	0.687000														65			14		0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157522258	157522258	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:157522258C>T	uc003qqp.3	+	16	4491	c.4491C>T	c.(4489-4491)agC>agT	p.S1497S	ARID1B_uc003qqo.3_Silent_p.S1510S|ARID1B_uc003qqn.3_Silent_p.S1550S	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1497	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATCATGAGAGCCAGTGGCCTT	0.607000														225			50		0	0	1	0	0
PGC	5225	broad.mit.edu	37	6	41712141	41712141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41712141C>T	uc003ora.2	-	2	389	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	PGC_uc021yzm.1_Missense_Mutation_p.A108T	NM_002630	NP_002621	P20142	PEPC_HUMAN	Homo sapiens progastricsin (pepsinogen C) (PGC), transcript variant 1, mRNA.	108					digestion|proteolysis	extracellular space	aspartic-type endopeptidase activity	p.A108T(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCACTGCAGGCCTGGCTCTGG	0.612000														200			27		0	0	1	0	0
FOXE1	2304	broad.mit.edu	37	9	100617275	100617275	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100617275C>T	uc004axu.3	+	0	1739	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_004473	NP_004464	O00358	FOXE1_HUMAN	Homo sapiens forkhead box E1 (thyroid transcription factor 2) (FOXE1), mRNA.	360					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter 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			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				CGCCATGCTGCCGCTTATCCC	0.642000														77			15		0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689272	74689272	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74689272G>T	uc010ffj.3	-	3	1807	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	MOGS_uc010ffh.3_Silent_p.L273L|MOGS_uc010yrt.2_Silent_p.L429L|MOGS_uc010ffi.3_Silent_p.L442L	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	548					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCTCTGATGGAGCCAGGAAA	0.597000														297			48		3.86236e-30	4.8625e-30	1	1	0
CASR	846	broad.mit.edu	37	3	122002933	122002933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122002933C>T	uc003eew.4	+	6	2600	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	CASR_uc003eev.4_Missense_Mutation_p.P711L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	711					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGATCCCCACCAGCTTC	0.572000														140			31		0	0	1	0	0
GLP1R	2740	broad.mit.edu	37	6	39034062	39034062	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39034062G>A	uc003ooj.4	+	4	552	c.492G>A	c.(490-492)gcG>gcA	p.A164A	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	164					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TCGCCTCTGCGATCCTCCTCG	0.587000														59			10		0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55972411	55972411	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:55972411C>A	uc002adg.3	-	6	863	c.815_splice	c.e6-1	p.D272_splice		NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN	Homo sapiens protogenin (PRTG), mRNA.	272	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GATTTGTGATCTATTTCAAAG	0.323000														35			12		9.31168e-06	9.81217e-06	1	1	0
TMED8	283578	broad.mit.edu	37	14	77810118	77810118	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77810118G>A	uc001xto.1	-	3	376	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	TMED8_uc001xtn.1_5'Flank	NM_213601	NP_998766	Q6PL24	TMED8_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 8 (TMED8), mRNA.	126					transport	integral to membrane		p.Q126L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGTTCAGACTGGATCATAACG	0.448000														228			34		0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	A	A	rs149276246	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150171653G>A	uc003whj.3	+	3	1566	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	412						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding	p.A412A(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413000														138			23		0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26203981	26203981	+	Missense_Mutation	SNP	G	A	A	rs150389136		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26203981G>A	uc002rgu.2	-	0	1463	c.806C>T	c.(805-807)tCg>tTg	p.S269L	KIF3C_uc010eyj.1_Non-coding_Transcript|KIF3C_uc010ykr.1_Missense_Mutation_p.S269L	NM_002254	NP_002245	O14782	KIF3C_HUMAN	Homo sapiens kinesin family member 3C (KIF3C), mRNA.	269	Kinesin-motor.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					accgccaccCGAGGATGGTGT	0.632000														160			27		0	0	1	0	0
KCNC1	3746	broad.mit.edu	37	11	17793582	17793582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:17793582G>A	uc009yhc.1	+	1	996	c.941G>A	c.(940-942)cGc>cAc	p.R314H	KCNC1_uc001mnk.4_Missense_Mutation_p.R314H	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	314						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCGTCGTCCGCTTCGTGCGC	0.637000														112			26		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52404631	52404631	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52404631C>T	uc011bef.2	+	39	6658	c.6397C>T	c.(6397-6399)Ctc>Ttc	p.L2133F		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2133					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGCTAAGGCTCAAGATGGA	0.627000														38			5		0	0	1	0	0
DGAT1	8694	broad.mit.edu	37	8	145541760	145541760	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145541760C>T	uc003zbv.3	-	7	1017	c.749G>A	c.(748-750)cGc>cAc	p.R250H		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	250					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GTCCTCACCGCGGTAGGTCAG	0.632000														157			16		0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119084170	119084170	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119084170C>T	uc003ecj.4	+	1	640	c.108C>T	c.(106-108)taC>taT	p.Y36Y		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	36	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TAGTTCCATACGTTTTGAAGA	0.363000														54			8		0	0	1	0	0
DCAF5	8816	broad.mit.edu	37	14	69521423	69521423	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69521423A>C	uc001xkp.3	-	8	2199	c.1980T>G	c.(1978-1980)atT>atG	p.I660M	DCAF5_uc001xkq.3_Missense_Mutation_p.I659M	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	660						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						AAGCTTTATAAATTTTTCGCT	0.498000														136			34		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604719	140604719	+	Missense_Mutation	SNP	C	T	T	rs150404611		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140604719C>T	uc003ljb.3	+	0	1642	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706000														272			31		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356605	90356605	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90356605C>T	uc001kff.3	+	7	949	c.635C>T	c.(634-636)tCa>tTa	p.S212L		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	212					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTCATTGGTTCAAAGCTGTGT	0.308000														104			38		0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540637	133540637	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133540637T>C	uc002ttp.3	-	13	4121	c.3747A>G	c.(3745-3747)agA>agG	p.R1249R	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1249							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTCTCATGGATCTATTATCTA	0.517000														190			17		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52229781	52229781	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52229781T>C	uc003jou.3	+	22	3333	c.2919T>C	c.(2917-2919)atT>atC	p.I973I	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Silent_p.I504I	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	973					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CTGAAGTTATTAATTCTACTG	0.269000														56			5		0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411272	5411272	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5411272T>C	uc010qzc.2	+	0	666	c.644T>C	c.(643-645)gTa>gCa	p.V215A	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	215						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGATGGTGGTAGTTTTCACT	0.537000														139			33		0	0	1	0	0
RHOT2	89941	broad.mit.edu	37	16	720170	720170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:720170G>A	uc002cip.3	+	5	441	c.324G>A	c.(322-324)ggG>ggA	p.G108G	RHOT2_uc010uum.2_3'UTR|RHOT2_uc002ciq.3_Missense_Mutation_p.G7D|RHOT2_uc010bqy.3_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	Homo sapiens ras homolog gene family, member T2 (RHOT2), nuclear gene encoding mitochondrial protein, mRNA.	108	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				CCACGCAGGGGCCCAGGTAAT	0.632000														122			27		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71491850	71491850	+	Missense_Mutation	SNP	G	A	A	rs139604402		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71491850G>A	uc003kbw.4	+	4	2909	c.2668G>A	c.(2668-2670)Gag>Aag	p.E890K	MAP1B_uc010iyw.1_Missense_Mutation_p.E907K|MAP1B_uc010iyx.1_Missense_Mutation_p.E764K|MAP1B_uc010iyy.1_Missense_Mutation_p.E764K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	890						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGGTCCTGCCGAGTCCCCTGA	0.542000														229			40		0	0	1	0	0
MMP21	118856	broad.mit.edu	37	10	127459093	127459093	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127459093C>T	uc001liu.3	-	4	1047	c.1047G>A	c.(1045-1047)gaG>gaA	p.E349E		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	349	Hemopexin-like 1.		E -> G (in dbSNP:rs28381302).		proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCACCATCACCTCTCCATATT	0.418000														134			28		0	0	1	0	0
FANCB	2187	broad.mit.edu	37	X	14883249	14883249	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14883249A>G	uc004cwg.1	-	2	652	c.384T>C	c.(382-384)taT>taC	p.Y128Y	FANCB_uc004cwh.1_Silent_p.Y128Y	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	128					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CCTTCATCTCATAGCCTAGTT	0.308000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					41			17		0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63961682	63961682	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63961682G>A	uc001nyk.1	+	2	388	c.241G>A	c.(241-243)Gct>Act	p.A81T	STIP1_uc001nyj.3_Missense_Mutation_p.A81T|STIP1_uc010rnb.1_Intron	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	81					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AAAAGCAGCAGCTCTAGAGTT	0.418000														164			40		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607439	42607439	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42607439G>A	uc003bcj.1	-	0	4007	c.3873C>T	c.(3871-3873)ggC>ggT	p.G1291G	TCF20_uc003bck.1_Silent_p.G1291G	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	1291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTATCAGCGCCTTCTTTTG	0.428000														182			40		0	0	1	0	0
ZBTB2	57621	broad.mit.edu	37	6	151687214	151687214	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151687214G>A	uc003qoh.3	-	2	1122	c.987C>T	c.(985-987)atC>atT	p.I329I		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GCTGCCCATCGATGATGGGAG	0.567000														163			35		0	0	1	0	0
ZNF19	7567	broad.mit.edu	37	16	71515996	71515996	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71515996C>A	uc010cgc.1	-	2	528	c.22G>T	c.(22-24)Gct>Tct	p.A8S	ZNF23_uc002fai.3_5'UTR|ZNF19_uc002fak.1_5'UTR|ZNF19_uc002fal.1_Intron|ZNF19_uc002fam.1_Missense_Mutation_p.A8S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TGGTATTGAGCTTTCAGAGGC	0.507000														47			11		0.000151284	0.000156809	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9166622	9166622	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9166622G>T	uc001mhl.3	-	17	3299	c.3042C>A	c.(3040-3042)ggC>ggA	p.G1014G	DENND5A_uc001mhk.3_Silent_p.G357G|DENND5A_uc010rbw.2_Silent_p.G1014G	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	1014	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGTTATCATGGCCAATCTGGA	0.448000														161			32		1.08312e-15	1.2841e-15	1	1	0
NLGN1	22871	broad.mit.edu	37	3	173996663	173996663	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:173996663G>A	uc021xhm.1	+	5	1312	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	NLGN1_uc003fio.1_Missense_Mutation_p.R291Q|NLGN1_uc010hww.1_Missense_Mutation_p.R331Q|NLGN1_uc003fip.1_Missense_Mutation_p.R291Q	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	308					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CTTTTTCAACGAGCAATAGCT	0.358000														67			12		0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44153432	44153432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44153432C>T	uc003tkb.3	+	20	3354	c.3049C>T	c.(3049-3051)Cgc>Tgc	p.R1017C	AEBP1_uc003tkc.4_Missense_Mutation_p.R592C|AEBP1_uc003tkd.3_Missense_Mutation_p.R267C	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1017	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAACAGCGACGCCTGCAGCA	0.662000														268			48		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37051924	37051924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37051924C>T	uc003jkl.4	+	40	7497	c.6998C>T	c.(6997-6999)gCt>gTt	p.A2333V	NIPBL_uc003jkk.4_Missense_Mutation_p.A2333V|NIPBL_uc003jkn.3_Missense_Mutation_p.A26V	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2333					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CCAGAACCTGCTATGCGGAAC	0.318000														68			20		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117848462	117848462	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117848462G>A	uc004bjj.4	-	2	1960	c.1548C>T	c.(1546-1548)tgC>tgT	p.C516C	TNC_uc010mvf.3_Silent_p.C516C|TNC_uc022bmj.1_Silent_p.C516C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	516	EGF-like 12.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTCACAGACGCACTGTCCGT	0.612000														183			38		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75520479	75520479	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75520479G>A	uc001juw.3	+	6	1039	c.859G>A	c.(859-861)Gga>Aga	p.G287R	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.G145R|SEC24C_uc001jux.3_Missense_Mutation_p.G287R|SEC24C_uc010qko.2_Missense_Mutation_p.G145R|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	287					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AGGTTCCTTCGGACCAGCCCG	0.537000														167			43		0	0	1	0	0
HOXC5	3222	broad.mit.edu	37	12	54426931	54426931	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54426931T>G	uc001sew.3	+	0	100	c.25T>G	c.(25-27)Ttc>Gtc	p.F9V	HOXC5_uc001set.3_Intron|HOXC4_uc001seu.3_Intron|MIR615_uc021qyl.1_5'Flank	NM_018953	NP_061826	Q00444	HXC5_HUMAN	Homo sapiens homeobox C5 (HOXC5), transcript variant 1, mRNA.	9					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGCCAATTCATTCTATAAGCA	0.493000											OREG0021884	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		117			7		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2112582	2112582	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2112582C>T	uc002con.3	+	12	1448	c.1342C>T	c.(1342-1344)Ctg>Ttg	p.L448L	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.L448L|TSC2_uc002coo.3_Silent_p.L448L|TSC2_uc010uvv.2_Silent_p.L411L|TSC2_uc010uvw.2_Silent_p.L399L|TSC2_uc002cop.3_Silent_p.L248L	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	448					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCTGCAGGCGCTGATGGAGAG	0.612000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					31			5		0	0	1	0	0
ZNF133	7692	broad.mit.edu	37	20	18296806	18296806	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:18296806G>A	uc010zrv.1	+	4	1523	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	ZNF133_uc010gcq.2_Silent_p.P437P|ZNF133_uc010zrw.1_Silent_p.P374P|ZNF133_uc010gcr.2_Silent_p.P437P|ZNF133_uc010zrx.1_Silent_p.P342P|ZNF133_uc002wql.4_Silent_p.P436P|ZNF133_uc010gcs.3_Silent_p.P436P|ZNF133_uc010zry.2_Silent_p.P342P|ZNF133_uc002wqm.2_Silent_p.P437P	NM_003434	NP_003425	P52736	ZN133_HUMAN	Homo sapiens zinc finger protein 133 (ZNF133), transcript variant 1, mRNA.	437						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GGGAGAAGCCGTATGTTTGTG	0.537000														157			40		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232719	113232719	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113232719C>T	uc001eck.3	+	5	1106	c.836_splice	c.e5+1	p.R279_splice	MOV10_uc001ecl.2_Splice_Site_p.R279_splice|MOV10_uc001ecn.3_Splice_Site_p.R279_splice|MOV10_uc001ecm.3_Splice_Site_p.R219_splice|MOV10_uc009wgj.1_Splice_Site_p.R219_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	279					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GAGACCTGACCGGTAACTCCT	0.597000														131			30		0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83549944	83549944	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:83549944C>A	uc003kio.1	-	1	573	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	EDIL3_uc003kip.1_Missense_Mutation_p.D52Y	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	52	EGF-like 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GTGAAGCCATCTGGACACTCA	0.393000														80			7		0.0293803	0.0295844	1	1	0
TRAM1L1	133022	broad.mit.edu	37	4	118006158	118006158	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:118006158A>C	uc003ibv.4	-	0	579	c.392T>G	c.(391-393)tTt>tGt	p.F131C		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	131	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						AATACAAGAAAAAAAGTAGAA	0.378000														101			26		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507290	18507290	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507290C>T	uc002niw.3	-	0	1126	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	LRRC25_uc002nix.3_Missense_Mutation_p.A162T	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	162						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GTTGCAGAGGCCAGGCCAGGG	0.637000														95			22		0	0	1	0	0
H2BFM	286436	broad.mit.edu	37	X	103294830	103294830	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103294830T>A	uc004els.2	+	0	315	c.287T>A	c.(286-288)aTc>aAc	p.I96N		NM_001164416	NP_001157888			Homo sapiens H2B histone family, member M (H2BFM), mRNA.											endometrium(1)|lung(1)|ovary(1)	3						TTGGACCGCATCGCCACCGAG	0.602000														17			8		0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111340107	111340107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:111340107C>T	uc001vrd.2	-	4	572	c.532G>A	c.(532-534)Gga>Aga	p.G178R	CARS2_uc010tjm.1_Non-coding_Transcript	NM_024537	NP_078813	Q9HA77	SYCM_HUMAN	Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA.	178					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding	p.E177*(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	GCAATGATTCCTTCAATGAAA	0.403000														375			73		0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50305609	50305609	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50305609C>T	uc002xwg.1	-	8	793	c.793G>A	c.(793-795)Gca>Aca	p.A265T	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	265					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCACCTGATGCGACCACAGTG	0.483000														374			32		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100074478	100074478	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100074478C>T	uc011lut.2	+	17	1899	c.893C>T	c.(892-894)aCt>aTt	p.T298I	C9orf174_uc004axe.2_Missense_Mutation_p.T298I|C9orf174_uc011lus.2_Missense_Mutation_p.T159I|C9orf174_uc004axg.2_Missense_Mutation_p.T159I|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Missense_Mutation_p.T159I|C9orf174_uc011luv.1_Missense_Mutation_p.T159I	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	298						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						CTCATGGATACTATAGGTGAG	0.577000														100			29		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24484038	24484038	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24484038C>T	uc002rfe.2	-	21	2877	c.2619G>A	c.(2617-2619)tgG>tgA	p.W873*	ITSN2_uc002rff.2_Nonsense_Mutation_p.W846*|ITSN2_uc002rfg.3_Nonsense_Mutation_p.W873*	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	873					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATTTTTTCTGCCATGATGTAT	0.368000														58			7		0	0	1	0	0
TTC30A	92104	broad.mit.edu	37	2	178483364	178483364	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178483364G>T	uc002ulo.3	-	0	331	c.66C>A	c.(64-66)atC>atA	p.I22I		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	22					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGGCATCGCGGATGAGCCGGT	0.672000														35			6		2.7689e-08	3.02839e-08	1	1	0
ZNF697	90874	broad.mit.edu	37	1	120165879	120165879	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120165879C>T	uc001ehy.1	-	2	1201	c.1087G>A	c.(1087-1089)Gtg>Atg	p.V363M		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAACGGCGCACGAAGCCCTTG	0.746000														15			5		0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6948455	6948455	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:6948455T>C	uc002knm.3	-	59	8751	c.8657A>G	c.(8656-8658)tAc>tGc	p.Y2886C	LAMA1_uc002knk.3_Missense_Mutation_p.Y216C|LAMA1_uc002knl.3_Missense_Mutation_p.Y339C|LAMA1_uc010wzj.2_Missense_Mutation_p.Y2362C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2886					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCCACTGCGTAGCACCTGTT	0.542000														82			12		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128204709	128204709	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128204709G>A	uc003ekm.3	-	3	1167	c.732C>T	c.(730-732)caC>caT	p.H244H	GATA2_uc003ekn.3_Silent_p.H244H|GATA2_uc003eko.2_Silent_p.H244H	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	244					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TGGGGATGGGGTGGTGTGTAG	0.642000			Mis		AML(CML blast transformation)									100			8		0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36704168	36704168	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36704168C>T	uc002rpd.3	+	5	1194	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	376	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGATAAACTGCGAGAGGTACT	0.488000														146			44		0	0	1	0	0
GJC1	10052	broad.mit.edu	37	17	42882639	42882639	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42882639C>A	uc002ihj.3	-	1	1058	c.547G>T	c.(547-549)Gca>Tca	p.A183S	GJC1_uc002ihk.3_Missense_Mutation_p.A183S|GJC1_uc002ihl.3_Missense_Mutation_p.A183S|GJC1_uc021tyf.1_Missense_Mutation_p.A183S	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	183					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ACGGTCCTTGCCAGCAACTGC	0.483000														285			47		4.86159e-25	6.05492e-25	1	1	0
MUS81	80198	broad.mit.edu	37	11	65630597	65630597	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65630597A>C	uc001ofv.4	+	6	1020	c.667A>C	c.(667-669)Agc>Cgc	p.S223R	MUS81_uc001ofx.4_5'UTR	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	223	Interaction with BLM.				DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding	p.L222L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		AGAAGGCCTGAGCTTGCTGAA	0.622000								Homologous recombination						128			12		0	0	1	0	0
KIFC3	3801	broad.mit.edu	37	16	57798095	57798095	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57798095G>A	uc002emq.3	-	11	1774	c.1577C>T	c.(1576-1578)gCg>gTg	p.A526V	KIFC3_uc010vhw.2_Missense_Mutation_p.A424V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.A387V|KIFC3_uc010vhx.2_Missense_Mutation_p.A384V|KIFC3_uc010cdf.3_Missense_Mutation_p.A387V|KIFC3_uc002emo.4_Missense_Mutation_p.A387V|KIFC3_uc010vhy.2_Missense_Mutation_p.A468V|KIFC3_uc002emp.3_Missense_Mutation_p.A526V|KIFC3_uc010vhz.2_Missense_Mutation_p.A548V|KIFC3_uc002emr.1_Missense_Mutation_p.A303V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	526	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTGGCCGTACGCAAAGATGCA	0.637000														124			20		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140201415	140201415	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140201415C>T	uc004cmp.2	-	21	2814	c.2618G>A	c.(2617-2619)aGc>aAc	p.S873N	EXD3_uc010ncf.1_Missense_Mutation_p.S511N	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	873					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GAAGGGACTGCTGGCCGGGCT	0.652000														74			12		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65792817	65792817	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65792817C>T	uc001ogt.3	-	0	1172	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	345					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.R345C(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GACTCCTGTACGAGAAGCAGC	0.597000														107			18		0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69358972	69358972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:69358972G>A	uc001xkl.3	-	9	1194	c.884C>T	c.(883-885)cCg>cTg	p.P295L	ACTN1_uc010ttb.2_Missense_Mutation_p.P230L|ACTN1_uc001xkm.3_Missense_Mutation_p.P295L|ACTN1_uc001xkn.3_Missense_Mutation_p.P295L|ACTN1_uc001xko.1_Missense_Mutation_p.P230L|ACTN1_uc010ttd.1_Missense_Mutation_p.P274L	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	295	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTCCAGCCACGGGATTGTGCG	0.657000														179			28		0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57762411	57762411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57762411C>T	uc002emi.3	+	15	2395	c.2306C>T	c.(2305-2307)gCg>gTg	p.A769V	CCDC135_uc002emj.3_Missense_Mutation_p.A769V|CCDC135_uc002emk.3_Missense_Mutation_p.A704V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	769						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGCTGGCAGGCGGTGCGCCTC	0.622000														141			26		0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154743640	154743640	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154743640C>A	uc021zhc.1	-	9	1450	c.945_splice	c.e9+1	p.Q315_splice	CNKSR3_uc003qpy.3_Splice_Site_p.Q315_splice	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	315					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCCAGATACCTGTACAAGAG	0.438000														159			53		1.27862e-28	1.60599e-28	1	1	0
ZNF189	7743	broad.mit.edu	37	9	104170227	104170227	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104170227T>C	uc004bbh.1	+	2	453	c.177T>C	c.(175-177)gaT>gaC	p.D59D	ZNF189_uc004bbg.1_Silent_p.D17D|ZNF189_uc004bbi.1_Silent_p.D45D|ZNF189_uc011lvk.1_Silent_p.D44D|ZNF189_uc022ble.1_5'UTR	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	59	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAACAGAGATAAGGATGAGG	0.358000														17			5		0	0	1	0	0
SPAG9	9043	broad.mit.edu	37	17	49064500	49064500	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49064500G>A	uc002itc.3	-	21	3121	c.2912C>T	c.(2911-2913)aCt>aTt	p.T971I	SPAG9_uc002itd.3_Missense_Mutation_p.T961I|SPAG9_uc002itb.3_Missense_Mutation_p.T957I|SPAG9_uc002ita.3_Missense_Mutation_p.T814I	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	971					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			AAGCCACATAGTTGGTAAAAG	0.348000														97			18		0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603441	143603441	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:143603441G>A	uc003ywm.3	+	19	3323	c.3140G>A	c.(3139-3141)cGc>cAc	p.R1047H		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1047					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTCCGGAACCGCCTCATCCGC	0.657000														74			32		0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66987055	66987055	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66987055G>A	uc002jhu.3	-	28	3903	c.3760C>T	c.(3760-3762)Cct>Tct	p.P1254S	ABCA9_uc010dez.3_Missense_Mutation_p.P1216S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1254					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCTCCTTCAGGCTCTTCTGGG	0.388000														54			9		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37883966	37883966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37883966G>A	uc002hso.3	+	26	3675	c.3437G>A	c.(3436-3438)cGg>cAg	p.R1146Q	ERBB2_uc010cwa.3_Missense_Mutation_p.R1131Q|ERBB2_uc002hsm.3_Missense_Mutation_p.R1116Q|ERBB2_uc002hsp.3_Missense_Mutation_p.R949Q|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.R870Q	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1146					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CCAGATGTTCGGCCCCAGCCC	0.622000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				104			24		0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18885767	18885767	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18885767G>A	uc010ebv.3	+	12	1619	c.1531G>A	c.(1531-1533)Gcc>Acc	p.A511T	CRTC1_uc002nkb.4_Missense_Mutation_p.A495T|CRTC1_uc010ebw.3_Intron	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	495					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCAGATGGCGGCCAGGCAGGC	0.677000														126			24		0	0	1	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471738	39471738	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39471738C>T	uc002hwj.3	-	0	210	c.165G>A	c.(163-165)tcG>tcA	p.S55S		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	55						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			cacagcaagacgatccgcagc	0.706000														42			7		0	0	1	0	0
VMP1	81671	broad.mit.edu	37	17	57917196	57917196	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57917196C>T	uc002ixu.4	+	11	1418	c.1145C>T	c.(1144-1146)tCt>tTt	p.S382F	VMP1_uc010wog.2_Missense_Mutation_p.S190F|VMP1_uc010woh.2_Missense_Mutation_p.S326F|VMP1_uc010woi.2_Missense_Mutation_p.S285F|VMP1_uc010woj.2_Missense_Mutation_p.S248F|MIR21_uc002ixv.3_5'Flank	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Homo sapiens vacuole membrane protein 1 (VMP1), mRNA.	382					autophagy|cell adhesion	ER-Golgi intermediate compartment membrane|endoplasmic reticulum|integral to membrane|plasma membrane|vacuolar membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TTCATCCTATCTATCATTAAC	0.383000														180			54		0	0	1	0	0
CDC73	79577	broad.mit.edu	37	1	193104572	193104572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:193104572G>A	uc001gtb.3	+	3	602	c.359G>A	c.(358-360)cGa>cAa	p.R120Q	MIR1278_uc021pgq.1_5'Flank	NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	120					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						GGTCTTCAGCGATCTACTCAA	0.338000														63			19		0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42609754	42609754	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609754C>A	uc003bcj.1	-	0	1692	c.1558G>T	c.(1558-1560)Gat>Tat	p.D520Y	TCF20_uc003bck.1_Missense_Mutation_p.D520Y	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CAGCCTCCATCTAATGACTCT	0.537000														392			75		1.12115e-39	1.42509e-39	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95054153	95054153	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95054153C>A	uc001ydm.2	+	2	664	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	SERPINA5_uc010ave.2_Missense_Mutation_p.L152M|SERPINA5_uc001ydn.1_Missense_Mutation_p.L152M	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	152					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CATGAAGACGCTGTACCTGGC	0.532000														91			18		1.99824e-07	2.15697e-07	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27876902	27876902	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27876902T>C	uc021ojw.1	-	0	1725	c.1725A>G	c.(1723-1725)gcA>gcG	p.A575A	AHDC1_uc009vsy.3_Silent_p.A575A|AHDC1_uc009vsz.1_Silent_p.A575A	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	575							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGTGGCCGCTGCCACAGTGG	0.637000														128			30		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32841471	32841471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:32841471C>T	uc004dda.1	-	4	542	c.298G>A	c.(298-300)Gta>Ata	p.V100I	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.V96I|DMD_uc004ddb.1_Missense_Mutation_p.V92I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.V92I|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	100	Actin-binding.|CH 1.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTCCATCTACGATGTCAGTA	0.343000														63			22		0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31382482	31382482	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31382482G>T	uc002ebt.3	+	14	1855	c.1788G>T	c.(1786-1788)caG>caT	p.Q596H	ITGAX_uc002ebu.1_Missense_Mutation_p.Q596H|ITGAX_uc010vfk.1_Missense_Mutation_p.Q246H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	596					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						ACCTCACCCAGGATGGACTGG	0.652000														261			17		3.52763e-06	3.73571e-06	1	1	0
MYO7A	4647	broad.mit.edu	37	11	76912632	76912632	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912632C>T	uc001oyb.2	+	35	5264	c.4992C>T	c.(4990-4992)acC>acT	p.T1664T	MYO7A_uc010rsm.1_Silent_p.T1615T|MYO7A_uc001oyc.2_Silent_p.T1626T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Silent_p.T836T|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1664	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACTTCCCCACCGACAGTGTGT	0.612000														91			21		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160043449	160043449	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160043449C>A	uc002uag.3	+	15	2930	c.2656C>A	c.(2656-2658)Ctc>Atc	p.L886I	TANC1_uc010zcm.2_Missense_Mutation_p.L878I|TANC1_uc010fom.1_Missense_Mutation_p.L692I	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	886						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TTCAAGCCATCTCCAAGCCCT	0.537000														116			26		1.22384e-17	1.4705e-17	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225637950	225637950	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225637950A>C	uc010fwz.1	-	52	6367	c.6128T>G	c.(6127-6129)cTt>cGt	p.L2043R	DOCK10_uc002vob.2_Missense_Mutation_p.L2037R|DOCK10_uc002voa.2_Missense_Mutation_p.L699R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	2043	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AAGCTGATTAAGCTCAGAAAC	0.458000														70			18		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801996	67801996	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67801996C>T	uc001vik.3	-	1	1269	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	PCDH9_uc001vil.3_Missense_Mutation_p.V193M|PCDH9_uc010thl.2_Missense_Mutation_p.V193M|PCDH9_uc001vin.3_Missense_Mutation_p.V193M	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	193	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GGAGTTTCCACGATATCCAGT	0.423000														196			47		0	0	1	0	0
TUBB4A	10382	broad.mit.edu	37	19	6495205	6495205	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6495205G>A	uc002mfg.1	-	3	1412	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F	TUBB4A_uc002mff.1_Silent_p.F363F|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	435					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										CCTCCTCCTCGAACTCGCCCT	0.622000														228			56		0	0	1	0	0
SERPINB13	5275	broad.mit.edu	37	18	61261692	61261692	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61261692G>T	uc010xep.2	+	5	771	c.603G>T	c.(601-603)aaG>aaT	p.K201N	SERPINB13_uc002ljc.3_Missense_Mutation_p.K192N|SERPINB13_uc002ljd.3_Missense_Mutation_p.K56N|SERPINB13_uc010xeq.2_Missense_Mutation_p.K13N|SERPINB13_uc010xer.2_Missense_Mutation_p.K13N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	192					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GGGAGTTTAAGAAAGAAAATA	0.378000														108			20		2.94398e-08	3.21697e-08	1	1	0
BEND7	222389	broad.mit.edu	37	10	13489312	13489312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13489312G>A	uc001imm.2	-	7	1332	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	BEND7_uc001iml.2_Non-coding_Transcript|BEND7_uc001imn.3_Silent_p.I105I|BEND7_uc001imo.4_Silent_p.I357I	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN	Homo sapiens BEN domain containing 7 (BEND7), transcript variant 1, mRNA.	396	BEN.						protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CACTGTCCGCGATCTCTGCTG	0.383000														139			20		0	0	1	0	0
C9orf152	401546	broad.mit.edu	37	9	112963456	112963456	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112963456C>T	uc011lwk.2	-	1	1046	c.492G>A	c.(490-492)caG>caA	p.Q164Q	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	164										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCTGAGTCATCTGATTGGTTT	0.507000														301			51		0	0	1	0	0
FBXL18	80028	broad.mit.edu	37	7	5540606	5540606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5540606C>T	uc003soo.2	-	2	1388	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	FBXL18_uc003son.4_Missense_Mutation_p.A432T	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	432									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		gcgcggtcggcgcgcggcgcg	0.741000														70			7		0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20781925	20781925	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20781925A>G	uc003zog.1	+	11	1557	c.1194A>G	c.(1192-1194)caA>caG	p.Q398Q		NM_017794	NP_060264	Q5VW36	K1797_HUMAN	Homo sapiens KIAA1797 (KIAA1797), mRNA.	398						integral to membrane	binding										ATGACCACCAAAAGGTAATGA	0.403000														74			18		0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42236404	42236404	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42236404C>T	uc003cky.3	+	9	1300	c.1084C>T	c.(1084-1086)Cgc>Tgc	p.R362C	TRAK1_uc011azh.2_Missense_Mutation_p.R362C|TRAK1_uc011azi.2_Missense_Mutation_p.R362C|TRAK1_uc003ckz.4_Missense_Mutation_p.R288C|TRAK1_uc011azj.2_Missense_Mutation_p.R288C|TRAK1_uc003cla.3_Missense_Mutation_p.R304C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	362	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CACGTCTCGGCGCTACCACTC	0.572000														34			10		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140731024	140731024	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140731024G>A	uc003ljo.2	+	0	1197	c.1197G>A	c.(1195-1197)aaG>aaA	p.K399K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.K399K	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	405	Cadherin 4.				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)			ATTATTACAAGCTGGTGATTG	0.478000														48			11		0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9623249	9623249	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:9623249A>G	uc003wss.3	+	23	3500	c.3495A>G	c.(3493-3495)cgA>cgG	p.R1165R	TNKS_uc011kww.2_Silent_p.R928R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1165	PARP catalytic.				Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCTGCCACCGACAGAAGGAAG	0.463000														119			19		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847714	123847714	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847714C>T	uc001pzm.1	-	0	685	c.685G>A	c.(685-687)Gtt>Att	p.V229I		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V229I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TAGGAAATAACGATGAGGATG	0.592000														160			31		0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137715277	137715277	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137715277A>G	uc004cfe.3	+	60	5042	c.4660A>G	c.(4660-4662)Aag>Gag	p.K1554E	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1554	Triple-helical region.			K -> R (in Ref. 1; BAA14323).	axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AACTGGCCCGAAGGGTGAGGC	0.597000														234			55		0	0	1	0	0
NR6A1	2649	broad.mit.edu	37	9	127306128	127306128	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127306128C>A	uc004bor.1	-	3	572	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	NR6A1_uc004boq.1_Nonsense_Mutation_p.E128*|NR6A1_uc010mwq.1_Nonsense_Mutation_p.E128*	NM_033334	NP_201591	Q15406	NR6A1_HUMAN	Homo sapiens nuclear receptor subfamily 6, group A, member 1 (NR6A1), transcript variant 1, mRNA.	132					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						ATGCCATCTTCTCTGATAGCT	0.493000														57			13		9.31168e-06	9.81217e-06	1	1	0
NAV3	89795	broad.mit.edu	37	12	78400927	78400927	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78400927G>A	uc001syp.3	+	7	1782	c.1609G>A	c.(1609-1611)Gta>Ata	p.V537I	NAV3_uc001syo.3_Missense_Mutation_p.V537I	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	537						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGTTCCAACAGTAAAGCAAAC	0.463000										HNSCC(70;0.22)				95			7		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9964924	9964924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9964924C>T	uc002mmp.3	-	5	1331	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	435	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						ACCTGGTGGCCGTTGTTCCAG	0.602000														131			37		0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95019019	95019019	+	Missense_Mutation	SNP	G	A	A	rs144846345		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95019019G>A	uc004art.1	-	19	2337	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	IARS_uc004ars.1_Missense_Mutation_p.R539W|IARS_uc004aru.3_Missense_Mutation_p.R694W|IARS_uc010mqr.2_Missense_Mutation_p.R584W|IARS_uc010mqt.2_Intron	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	694					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGGATCCACCGGTCTGTAATG	0.448000														90			16		0	0	1	0	0
SLC20A1	6574	broad.mit.edu	37	2	113416788	113416788	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113416788G>A	uc002tib.3	+	7	1595	c.1056G>A	c.(1054-1056)gtG>gtA	p.V352V	SLC20A1_uc002tic.1_Silent_p.V164V	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	352					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TAGGTGCAGTGCAGTTGCCTA	0.458000														137			38		0	0	1	0	0
C4orf33	132321	broad.mit.edu	37	4	130032917	130032917	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:130032917C>A	uc003igu.4	+	5	935	c.571C>A	c.(571-573)Ctg>Atg	p.L191M	C4orf33_uc010iod.3_Missense_Mutation_p.L191M	NM_173487	NP_775758	Q8N1A6	CD033_HUMAN	Homo sapiens chromosome 4 open reading frame 33 (C4orf33), transcript variant 1, mRNA.	191										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	10						GGAATCAGACCTGTGGCTAAT	0.328000														45			6		0.27861	0.278893	1	1	0
AVL9	23080	broad.mit.edu	37	7	32598658	32598658	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:32598658C>T	uc003tcv.1	+	9	943	c.797C>T	c.(796-798)aCt>aTt	p.T266I	AVL9_uc011kai.2_Missense_Mutation_p.T266I|AVL9_uc010kwj.1_Missense_Mutation_p.T107I	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	266						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTGCATCCACTGCTGATGTT	0.458000														61			16		0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	11997479	11997479	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11997479G>A	uc001ila.3	-	12	3076	c.2602C>T	c.(2602-2604)Cgc>Tgc	p.R868C	UPF2_uc001ilb.3_Missense_Mutation_p.R868C|UPF2_uc001ilc.3_Missense_Mutation_p.R868C|UPF2_uc009xiz.2_Missense_Mutation_p.R868C	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	868	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.|Sufficient for interaction with UPF3A and UPF3B.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CTGCTGATGCGCCTCTGATTA	0.358000														69			9		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1995840	1995840	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1995840C>A	uc002cnh.3	-	7	1090	c.1043G>T	c.(1042-1044)aGa>aTa	p.R348I	TCRBV20S1_uc021tak.1_Intron|MSRB1_uc021tam.1_5'Flank	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	348					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						GCCAACCTTTCTCAGCGTAAT	0.627000														224			51		3.48956e-15	4.12494e-15	1	1	0
GRIN3A	116443	broad.mit.edu	37	9	104390655	104390655	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104390655A>C	uc004bbp.2	-	3	2982	c.2381T>G	c.(2380-2382)tTt>tGt	p.F794C	GRIN3A_uc004bbq.1_Missense_Mutation_p.F794C	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	794					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GACAGTTCCAAAGCGGAATCC	0.363000														65			15		0	0	1	0	0
RASL11B	65997	broad.mit.edu	37	4	53731934	53731934	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:53731934G>T	uc003gzt.3	+	3	889	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	Homo sapiens RAS-like, family 11, member B (RASL11B), mRNA.	237	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			GTTTAAGCAAGCCCTCTCTGC	0.562000														91			20		1.33834e-09	1.48855e-09	1	1	0
ANAPC5	51433	broad.mit.edu	37	12	121757499	121757499	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121757499C>A	uc001uag.3	-	13	1759	c.1637_splice	c.e13+1	p.R546_splice	ANAPC5_uc010szu.2_Splice_Site_p.R212_splice|ANAPC5_uc001uae.3_Splice_Site_p.R110_splice|ANAPC5_uc010szv.2_Splice_Site_p.R148_splice|ANAPC5_uc001uaf.3_Splice_Site|ANAPC5_uc001uah.3_Splice_Site_p.R434_splice	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	546					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTTTCTTACCTATAAACAC	0.303000														25			9		1.12685e-05	1.18529e-05	1	1	0
NKTR	4820	broad.mit.edu	37	3	42685488	42685488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42685488C>T	uc003clo.3	+	15	4441	c.4294C>T	c.(4294-4296)Cgg>Tgg	p.R1432W	NKTR_uc011azp.2_Silent_p.G242G|NKTR_uc003clp.3_Missense_Mutation_p.R1180W|NKTR_uc003cls.3_Missense_Mutation_p.R1132W	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	1432					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TTATAATCGGCGGTCCAGGTG	0.527000														55			7		0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507373	130507373	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130507373G>A	uc004bsc.3	-	6	1412	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C	SH2D3C_uc010mxo.3_Missense_Mutation_p.R264C|SH2D3C_uc004bry.3_Missense_Mutation_p.R266C|SH2D3C_uc004brz.4_Missense_Mutation_p.R70C|SH2D3C_uc011mak.2_Missense_Mutation_p.R70C|SH2D3C_uc004bsb.3_Missense_Mutation_p.R356C|SH2D3C_uc004bsa.3_Missense_Mutation_p.R267C	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	424					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCATGGACACGGGTTACTGCA	0.632000														82			20		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7605113	7605113	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7605113T>G	uc021pmv.1	-	13	2868	c.2762A>C	c.(2761-2763)gAt>gCt	p.D921A	ITIH5_uc021pmu.1_Missense_Mutation_p.D707A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	921					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGCCAGGTAATCCTTGTACTC	0.512000														264			54		0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630240	12630240	+	Missense_Mutation	SNP	C	T	T	rs149400013	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12630240C>T	uc001rao.2	-	6	2288	c.1525G>A	c.(1525-1527)Gtg>Atg	p.V509M	DUSP16_uc001ran.2_Missense_Mutation_p.V361M	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	509					MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.V509M(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTGTCCTCCACGCTCCCACTT	0.587000														182			35		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52991459	52991459	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52991459C>T	uc001cty.2	-	1	747	c.494G>A	c.(493-495)aGt>aAt	p.S165N	ZCCHC11_uc001ctx.2_Missense_Mutation_p.S165N|ZCCHC11_uc009vze.1_Missense_Mutation_p.S165N|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.3_Missense_Mutation_p.S165N|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.S165N	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	165					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CAACAGTAAACTGGGTCCCTT	0.383000														223			26		0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22804820	22804820	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22804820C>T	uc002kvk.2	-	3	3309	c.3062G>A	c.(3061-3063)cGc>cAc	p.R1021H	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.R1021H|ZNF521_uc002kvl.2_Missense_Mutation_p.R801H	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	1021					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CACCACGCAGCGAAAGCCTGT	0.512000			T	PAX5	ALL									89			19		0	0	1	0	0
MGEA5	10724	broad.mit.edu	37	10	103567613	103567613	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103567613T>C	uc001ktv.2	-	4	969	c.526A>G	c.(526-528)Ata>Gta	p.I176V	MGEA5_uc010qqe.1_Missense_Mutation_p.I176V|MGEA5_uc009xws.2_Missense_Mutation_p.I176V|MGEA5_uc001ktw.2_Missense_Mutation_p.I176V|MGEA5_uc009xwt.2_Missense_Mutation_p.I34V|MGEA5_uc010qqf.1_Non-coding_Transcript	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	176					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TTATGGTCTATATCATCAAAA	0.353000														155			36		0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5948357	5948357	+	Missense_Mutation	SNP	G	A	A	rs145958035		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5948357G>A	uc001iit.3	+	3	772	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	FBXO18_uc001iir.3_Missense_Mutation_p.R98Q|FBXO18_uc001iis.3_Missense_Mutation_p.R172Q|FBXO18_uc009xig.3_Missense_Mutation_p.R98Q	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	172					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AGTACGTCTCGGCTCTCTGCG	0.572000														88			17		0	0	1	0	0
E2F4	1874	broad.mit.edu	37	16	67229753	67229753	+	Missense_Mutation	SNP	A	T	T	rs1801013		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67229753A>T	uc002erz.3	+	6	940	c.877A>T	c.(877-879)Aca>Tca	p.T293S		NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	293			T -> P (in dbSNP:rs1801013).		G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GGGCCCAACAACACTGGACAC	0.587000														139			27		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467458	74467458	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74467458C>T	uc002axg.1	+	1	541	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	ISLR_uc002axh.1_Missense_Mutation_p.R87C|ISLR_uc021sqf.1_Missense_Mutation_p.R87C	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	87					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						CAATGAGATCCGCACGGTGGC	0.632000														155			33		0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100482962	100482962	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100482962C>A	uc003uwy.2	+	9	1555	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	SRRT_uc010lhl.1_Missense_Mutation_p.P429T|SRRT_uc003uxa.2_Missense_Mutation_p.P429T|SRRT_uc003uwz.2_Missense_Mutation_p.P430T	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	430					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						CAACATCGCGCCCAACATCTC	0.642000														133			37		9.65963e-10	1.07874e-09	1	1	0
GLO1	2739	broad.mit.edu	37	6	38645126	38645126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38645126G>A	uc003ooc.3	-	5	622	c.500C>T	c.(499-501)cCt>cTt	p.P167L		NM_006708	NP_006699	Q04760	LGUL_HUMAN	Homo sapiens glyoxalase I (GLO1), mRNA.	167					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	GTAGCCATCAGGATCTTGAAT	0.303000														58			20		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77742684	77742684	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77742684G>A	uc021rks.1	-	39	6260	c.5993C>T	c.(5992-5994)tCg>tTg	p.S1998L	MYCBP2_uc010aev.3_Missense_Mutation_p.S1364L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	1960					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GCTATCTGTCGACTGATTAGG	0.493000														139			27		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720635	95720635	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720635G>T	uc009xuj.2	-	0	1038	c.519C>A	c.(517-519)ttC>ttA	p.F173L						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		ACAGTCCATAGAATTTAGGCA	0.428000														120			32		6.04164e-23	7.46519e-23	1	1	0
OR2T8	343172	broad.mit.edu	37	1	248084330	248084330	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248084330G>T	uc010pzc.2	+	0	11	c.11G>T	c.(10-12)gGg>gTg	p.G4V		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ATGGAAAATGGGAGCTATACC	0.398000														126			28		1.12875e-08	1.24115e-08	1	1	0
KRTAP5-6	440023	broad.mit.edu	37	11	1718682	1718682	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1718682C>A	uc001lua.3	+	0	258	c.207C>A	c.(205-207)ggC>ggA	p.G69G	MOB2_uc001ltq.2_Intron	NM_001012416	NP_001012416	Q6L8G9	KRA56_HUMAN	Homo sapiens keratin associated protein 5-6 (KRTAP5-6), mRNA.	69	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)		CCAAAGGGGGCTGTGGCTCTT	0.637000														526			54		8.44121e-28	1.0586e-27	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21462771	21462771	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21462771G>A	uc003cce.3	-	7	1531	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	375						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGCCGCAGGAGTGCCGGAGGA	0.547000														58			7		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28863294	28863294	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28863294C>T	uc001bqb.2	+	11	1372	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	RCC1_uc001bqa.2_Missense_Mutation_p.R325W|RCC1_uc001bqc.2_Missense_Mutation_p.R325W|RCC1_uc001bqe.2_Missense_Mutation_p.R342W|RCC1_uc001bqf.2_Missense_Mutation_p.R356W|RCC1_uc001bqg.2_Missense_Mutation_p.R325W	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	325					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		TGAGTATGGGCGGCTGGGCCT	0.612000														227			58		0	0	1	0	0
ZNF704	619279	broad.mit.edu	37	8	81599496	81599496	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:81599496G>A	uc003yby.2	-	3	755	c.523C>T	c.(523-525)Ctg>Ttg	p.L175L		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	175						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			TCGAAGAGCAGGTTGCTGGCC	0.632000											OREG0018841	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		194			22		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144768443	144768443	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144768443C>T	uc003qkt.3	+	13	1803	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	UTRN_uc010khq.1_Nonsense_Mutation_p.R571*	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	571	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	p.R571*(4)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGTCAGTGTTCGACGTCTGGC	0.383000														43			5		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772030	4772030	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772030C>A	uc001alm.1	+	1	481	c.100C>A	c.(100-102)Ctc>Atc	p.L34I	AJAP1_uc001aln.3_Missense_Mutation_p.L34I	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	34					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CATGTTTCAGCTCGCCGTGGA	0.706000														592			52		2.01807e-28	2.53331e-28	1	1	0
GSTA2	2939	broad.mit.edu	37	6	52622688	52622688	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:52622688G>A	uc003pay.3	-	1	208	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	20	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGGAGCCACCGGATGGACTCC	0.488000														149			11		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52393941	52393941	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52393941C>A	uc011bef.2	+	26	4678	c.4417C>A	c.(4417-4419)Ctg>Atg	p.L1473M		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1473	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCTCAGTGATCTGGTGGCCCT	0.592000														331			89		1.82171e-49	2.32481e-49	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105419440	105419440	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105419440G>T	uc010axc.1	-	6	2468	c.2348C>A	c.(2347-2349)cCc>cAc	p.P783H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P683H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	783						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCCGCCTTGGGGCCTTTCAG	0.627000														474			119		2.91419e-48	3.71767e-48	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98565232	98565232	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98565232C>T	uc003upp.3	+	49	7611	c.7402C>T	c.(7402-7404)Cgt>Tgt	p.R2468C	TRRAP_uc011kis.2_Missense_Mutation_p.R2450C|TRRAP_uc003upr.3_Missense_Mutation_p.R2167C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2468					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCATGAAACGTCGTGTCTA	0.532000														157			9		0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173457694	173457694	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173457694G>A	uc002uhs.3	+	9	1188	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	PDK1_uc010zdz.1_Missense_Mutation_p.R208H|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.R383H|PDK1_uc010zeb.2_Missense_Mutation_p.R383H	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	363	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			CCCATATCACGTCTTTACGCA	0.383000									Autosomal Dominant Polycystic Kidney Disease					96			34		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35715139	35715139	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35715139G>A	uc003zxt.2	-	20	3025	c.2671C>T	c.(2671-2673)Cgg>Tgg	p.R891W		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	891					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCCTCCCGCAGCCGCTGC	0.612000														160			29		0	0	1	0	0
ZNF85	7639	broad.mit.edu	37	19	21132513	21132513	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132513A>G	uc002npg.4	+	3	1341	c.1193A>G	c.(1192-1194)tAc>tGc	p.Y398C	ZNF85_uc010ecn.3_Missense_Mutation_p.Y333C|ZNF85_uc010eco.3_Missense_Mutation_p.Y346C|ZNF85_uc002npi.3_Missense_Mutation_p.Y339C	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	398						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GAGAAACCTTACAAATGTAAA	0.328000														36			4		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27801528	27801528	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27801528G>A	uc002rkz.4	+	0	2140	c.2089G>A	c.(2089-2091)Gtt>Att	p.V697I		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	697										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCCTCCTAAAGTTATGGAAAC	0.408000														144			17		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310088	56310088	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310088A>G	uc010rjl.2	-	0	646	c.646T>C	c.(646-648)Tcc>Ccc	p.S216P	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AAGGCATAGGACACCAAGACG	0.493000														84			20		0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161495182	161495182	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161495182A>C	uc001gaq.3	+	0	1147	c.734A>C	c.(733-735)gAa>gCa	p.E245A	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	245					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACTTCATGGAAGAATTCCGG	0.612000														66			9		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114440517	114440517	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114440517G>A	uc001eeb.3	-	6	1433	c.1247C>T	c.(1246-1248)aCt>aTt	p.T416I	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Missense_Mutation_p.T248I|AP4B1_uc010owp.2_Missense_Mutation_p.T317I|AP4B1_uc001eed.3_Missense_Mutation_p.T416I|AP4B1_uc001eea.1_Missense_Mutation_p.T210I|AP4B1_uc001eee.1_5'Flank	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	416					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGCTTCAGTACACTGAGG	0.502000														77			14		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152777048	152777048	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152777048C>A	uc021zhb.1	-	20	2923	c.2700G>T	c.(2698-2700)caG>caT	p.Q900H	SYNE1_uc003qot.4_Missense_Mutation_p.Q907H|SYNE1_uc003qou.4_Missense_Mutation_p.Q900H|SYNE1_uc010kjb.1_Missense_Mutation_p.Q883H|SYNE1_uc003qow.3_Missense_Mutation_p.Q195H|SYNE1_uc003qox.1_Missense_Mutation_p.Q416H|SYNE1_uc003qoz.2_Missense_Mutation_p.Q332H|SYNE1_uc003qoy.2_Missense_Mutation_p.Q467H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	900					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TATCTGCAATCTGTCTTTGTA	0.418000										HNSCC(10;0.0054)				102			16		1.5739e-10	1.77479e-10	1	1	0
TTN	7273	broad.mit.edu	37	2	179462653	179462653	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179462653C>T	uc021vsy.1	-	241	49765	c.49540G>A	c.(49540-49542)Gaa>Aaa	p.E16514K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10209K|TTN_uc021vta.1_Missense_Mutation_p.E10142K|TTN_uc021vtb.1_Missense_Mutation_p.E10017K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17441	Fibronectin type-III 19.						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)			TCCTTCATTTCAATGACATCT	0.373000														115			23		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125590747	125590747	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125590747G>A	uc010inw.3	-	3	4723	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	ANKRD50_uc011cgo.2_Nonsense_Mutation_p.R1050*	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1229	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ATTGACTGTCGACTTCTACTG	0.413000														298			55		0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10383150	10383150	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10383150G>A	uc003wta.3	+	0	95	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.G19S	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	19					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AACTCAGCTCGGTCCACGGAC	0.677000														86			26		0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110085846	110085846	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110085846G>A	uc021orh.1	+	0	202	c.202G>A	c.(202-204)Gcc>Acc	p.A68T	GPR61_uc001dxy.2_Missense_Mutation_p.A68T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GGCCGTGATCGCCAAGACGCC	0.607000														248			60		0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72024411	72024411	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72024411T>C	uc001swo.2	-	17	4052	c.3693A>G	c.(3691-3693)acA>acG	p.T1231T		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1231					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CATTAGTACTTGTCTCTGCAC	0.328000														40			10		0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126674903	126674903	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:126674903A>G	uc003kuh.4	+	3	570	c.208A>G	c.(208-210)Acg>Gcg	p.T70A	MEGF10_uc010jdc.1_Missense_Mutation_p.T70A|MEGF10_uc010jdd.1_Missense_Mutation_p.T70A|MEGF10_uc003kui.4_Missense_Mutation_p.T70A	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	70	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.T70T(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GTTTAAATGCACGCGGCACAG	0.413000														83			18		0	0	1	0	0
PIAS1	8554	broad.mit.edu	37	15	68479978	68479978	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:68479978G>A	uc002aqz.3	+	13	1854	c.1761G>A	c.(1759-1761)caG>caA	p.Q587Q		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	587	4 X 4 AA repeats of N-T-S-L.|Ser-rich.				JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCTCCTCACAGATGTTTCTTG	0.502000														105			20		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226516173	226516173	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:226516173C>T	uc002voe.2	+	5	2029	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G	NYAP2_uc010fxa.1_3'UTR|NYAP2_uc002vof.1_Silent_p.G388G	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	618																	GCAAATTAGGCCGGTCTGCGT	0.488000														288			52		0	0	1	0	0
A1BG	1	broad.mit.edu	37	19	58864788	58864788	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58864788C>T	uc002qsd.4	-	0	78	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	A1BG-AS1_uc002qse.3_Non-coding_Transcript|A1BG_uc002qsf.2_Intron|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	6						extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGAGAAAGACCACGAGCATG	0.667000														35			4		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155253943	155253943	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155253943C>T	uc003inw.2	-	8	1920	c.1920G>A	c.(1918-1920)acG>acA	p.T640T	DCHS2_uc003inx.2_Silent_p.T1139T	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	640	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATCCAGCCCGTGTAAGGGC	0.522000														97			25		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148507481	148507481	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148507481C>A	uc003wfd.2	-	16	2151	c.1958G>T	c.(1957-1959)aGa>aTa	p.R653I	EZH2_uc022aov.1_Missense_Mutation_p.R572I|EZH2_uc011kug.2_Missense_Mutation_p.R602I|EZH2_uc003wfb.2_Missense_Mutation_p.R658I|EZH2_uc003wfc.2_Missense_Mutation_p.R614I|EZH2_uc011kuh.2_Missense_Mutation_p.R644I	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	653	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			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)			TTTCCCTCTTCTGTCAGCTTC	0.398000			Mis		DLBCL									101			20		8.34094e-07	8.90579e-07	1	1	0
KCNQ2	3785	broad.mit.edu	37	20	62046315	62046315	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62046315C>T	uc002yey.1	-	12	1643	c.1466G>A	c.(1465-1467)cGc>cAc	p.R489H	KCNQ2_uc002yez.1_Missense_Mutation_p.R459H|KCNQ2_uc002yfa.1_Missense_Mutation_p.R471H|KCNQ2_uc002yfb.1_Missense_Mutation_p.R461H	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	489					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	TGCCCGGCTGCGGTCCCCGAA	0.692000														243			56		0	0	1	0	0
JPH3	57338	broad.mit.edu	37	16	87678325	87678325	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:87678325G>A	uc002fkd.3	+	1	1098	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	282					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		CGACATCGACGCCACCACCAC	0.667000														199			70		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136627930	136627930	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136627930C>T	uc002tuw.3	-	3	331	c.255_splice	c.e3-1	p.R85_splice		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	85					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TAAGGGTAAACTCTGAAAAAC	0.433000														164			57		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8734225	8734225	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8734225C>T	uc001mgt.3	-	8	2231	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	ST5_uc009yfr.3_Missense_Mutation_p.R262H|ST5_uc001mgu.3_Missense_Mutation_p.R262H|ST5_uc001mgv.3_Missense_Mutation_p.R682H|ST5_uc010rbq.1_Non-coding_Transcript|ST5_uc010rbp.2_Missense_Mutation_p.R195H|ST5_uc009yfs.3_5'Flank	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	682					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCCAGCGTGCGATAGCTGGG	0.602000														26			4		0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57587035	57587035	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57587035C>T	uc001snd.3	+	45	8098	c.7632C>T	c.(7630-7632)tgC>tgT	p.C2544C	MIR1228_uc021qzh.1_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2544	LDL-receptor class A 11.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCTGACCTGCGACGGCGTCC	0.612000														126			25		0	0	1	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171821594	171821594	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:171821594G>A	uc003mbr.3	-	3	453	c.282C>T	c.(280-282)cgC>cgT	p.R94R	SH3PXD2B_uc003mbs.1_Silent_p.R94R	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	94	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTGGTATCAGGCGTTTGACAG	0.468000														50			9		0	0	1	0	0
DNAJB1	3337	broad.mit.edu	37	19	14626848	14626848	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14626848C>A	uc002myz.1	-	2	967	c.927G>T	c.(925-927)gaG>gaT	p.E309D	DNAJB1_uc010xnr.1_Missense_Mutation_p.E209D	NM_006145	NP_006136	P25685	DNJB1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1), mRNA.	309					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding			NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CCCCACGTTTCTCGGGTGTTT	0.507000														156			40		1.96642e-18	2.37535e-18	1	1	0
FAM55C	91775	broad.mit.edu	37	3	101535756	101535756	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101535756T>G	uc003dvn.3	+	6	1677	c.1040T>G	c.(1039-1041)aTt>aGt	p.I347S	FAM55C_uc010hpn.3_Missense_Mutation_p.I347S	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	347						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CCTGACAACATTACAGAGTGC	0.398000														171			39		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45457588	45457588	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45457588C>A	uc001rol.3	-	0		c.1607G>T								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		ACTTGATGTCCTGTAACATCG	0.502000														68			14		2.23348e-06	2.37297e-06	1	1	0
PLD5	200150	broad.mit.edu	37	1	242428680	242428680	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242428680A>G	uc001hzn.2	-	4	793	c.566T>C	c.(565-567)gTa>gCa	p.V189A	PLD5_uc021pll.1_Missense_Mutation_p.V97A|PLD5_uc001hzl.4_Missense_Mutation_p.V127A|PLD5_uc001hzm.4_5'UTR|PLD5_uc001hzo.2_Missense_Mutation_p.V97A	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	189						integral to membrane	catalytic activity	p.P188>?(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			ATCAGCTGTTACATCACTCAC	0.368000														48			4		0	0	1	0	0
PPAN-P2RY11	692312	broad.mit.edu	37	19	10225213	10225213	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10225213C>T	uc002mnc.3	+	1	1125	c.924C>T	c.(922-924)ggC>ggT	p.G308G	PPAN-P2RY11_uc002mna.3_Silent_p.G728G|PPAN-P2RY11_uc010xla.2_3'UTR	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGATGCGGGGCCTCATGCCCC	0.687000														166			40		0	0	1	0	0
QSER1	79832	broad.mit.edu	37	11	32987888	32987888	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:32987888C>T	uc001mty.3	+	8	4892	c.4625C>T	c.(4624-4626)aCa>aTa	p.T1542I	QSER1_uc001mtz.1_Missense_Mutation_p.T1303I|QSER1_uc001mua.3_Missense_Mutation_p.T1047I	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1542										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TTTTTGAACACAAGAGCAATG	0.408000														119			23		0	0	1	0	0
SHOX2	6474	broad.mit.edu	37	3	157823784	157823784	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:157823784C>A	uc003fbs.3	-	0	169	c.30G>T	c.(28-30)aaG>aaT	p.K10N	SHOX2_uc003fbr.3_Missense_Mutation_p.K10N|SHOX2_uc010hvw.3_Missense_Mutation_p.K10N	NM_003030	NP_003021	O60902	SHOX2_HUMAN	Homo sapiens short stature homeobox 2 (SHOX2), transcript variant 1, mRNA.	10					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GGTCAAAAGACTTGGAGACGA	0.607000														132			30		4.74835e-14	5.56603e-14	1	1	0
ETFDH	2110	broad.mit.edu	37	4	159606330	159606330	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159606330G>A	uc003iqb.3	+	4	897	c.565G>A	c.(565-567)Gcc>Acc	p.A189T	ETFDH_uc011cjg.2_Missense_Mutation_p.A142T|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Missense_Mutation_p.A128T|ETFDH_uc010iqs.3_Missense_Mutation_p.A111T	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	189					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAAGCAGAAGCCCTTGGTGT	0.358000														163			23		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98750321	98750321	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750321G>T	uc002syo.3	+	6	1171	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	VWA3B_uc010yvh.2_Nonsense_Mutation_p.E153*|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Nonsense_Mutation_p.E303*|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	303										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AGAGTGTGTAGAATTTCCTGC	0.458000														283			62		4.64219e-42	5.90721e-42	1	1	0
PPP1R3A	5506	broad.mit.edu	37	7	113519685	113519685	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:113519685C>A	uc010ljy.1	-	3	1493	c.1462G>T	c.(1462-1464)Gat>Tat	p.D488Y		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	488					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GAATGGAAATCTCTTCGTAAA	0.363000														54			7		8.12818e-05	8.44191e-05	1	1	0
FLNC	2318	broad.mit.edu	37	7	128481264	128481264	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:128481264T>C	uc003vnz.4	+	11	2063	c.1854T>C	c.(1852-1854)tgT>tgC	p.C618C	FLNC_uc003voa.4_Silent_p.C618C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	618					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGATCGAATGTGACGACAAGG	0.627000														244			44		0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341876	85341876	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85341876G>T	uc002bld.3	+	7	3130	c.2794G>T	c.(2794-2796)Gac>Tac	p.D932Y	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	932					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCTTCAGCGGACACATCCTC	0.622000														115			27		2.44723e-14	2.87423e-14	1	1	0
KDSR	2531	broad.mit.edu	37	18	61018225	61018225	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:61018225C>T	uc010dpw.3	-	5	660	c.505G>A	c.(505-507)Gtg>Atg	p.V169M	KDSR_uc010xem.2_Intron	NM_002035	NP_002026	Q06136	KDSR_HUMAN	Homo sapiens 3-ketodihydrosphingosine reductase (KDSR), mRNA.	169					3-keto-sphinganine metabolic process	endoplasmic reticulum membrane|extracellular space|integral to membrane	3-dehydrosphinganine reductase activity|binding			endometrium(2)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	9						GACACAAACACGATCCTGCCC	0.547000														220			40		0	0	1	0	0
RBM26	64062	broad.mit.edu	37	13	79952975	79952975	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79952975T>C	uc001vkz.2	-	1	153	c.139A>G	c.(139-141)Aaa>Gaa	p.K47E	RBM26_uc001vky.2_Missense_Mutation_p.K47E|RBM26_uc001vla.2_Missense_Mutation_p.K47E|RBM26_uc001vlc.1_Missense_Mutation_p.K47E	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	47					mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTAACTCTTTTTCACTTTTG	0.299000														39			12		0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171388	68171388	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:68171388G>A	uc010dfg.3	+	1	609	c.208G>A	c.(208-210)Gca>Aca	p.A70T	KCNJ2_uc002jir.3_Missense_Mutation_p.A70T|KCNJ2_uc021ucj.1_Missense_Mutation_p.A70T	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	70					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.L69L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACGGTACCTCGCAGACATCTT	0.522000														172			39		0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670091	49670091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49670091C>T	uc002efs.3	-	4	3270	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	ZNF423_uc010vgn.2_Missense_Mutation_p.R874H	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	991					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CTTGCAGATGCGACAGGTGCC	0.597000														94			16		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5790078	5790078	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5790078G>T	uc002mdc.3	-	1	464	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Splice_Site	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	123					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GAGGGACACAGCCTGTTCTTG	0.612000														118			10		0.000442599	0.000455268	1	1	0
TMEM164	84187	broad.mit.edu	37	X	109416479	109416479	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109416479G>A	uc004eom.3	+	6	1033	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	TMEM164_uc004eon.2_Missense_Mutation_p.E83K|TMEM164_uc010npq.3_Missense_Mutation_p.E193K	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	232						integral to membrane		p.E193K(1)|p.E232K(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GCAGGTCACCGAAGTGAATTT	0.547000														118			37		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421560	115421560	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421560G>A	uc011lwx.1	+	4	1621	c.1446G>A	c.(1444-1446)ttG>ttA	p.L482L	KIAA1958_uc004bgf.1_Silent_p.L454L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	454								p.R482C(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGTGAAGTTGAACGAGCTGC	0.552000														145			28		0	0	1	0	0
CHST9	83539	broad.mit.edu	37	18	24524299	24524299	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24524299G>A	uc002kwd.3	-	3	463	c.234C>T	c.(232-234)acC>acT	p.T78T	CHST9-AS1_uc010xbm.2_Intron|CHST9_uc002kwe.3_Silent_p.T78T|CHST9_uc021uij.1_Intron	NM_001243848	NP_001230777	Q7L1S5	CHST9_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 (CHST9), transcript variant 2, mRNA.	78					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|extracellular region|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ATACCTGGTTGGTGATATGTT	0.313000														48			7		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368526	40368526	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40368526G>A	uc002omp.4	-	27	12830	c.12822C>T	c.(12820-12822)taC>taT	p.Y4274Y		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4274	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGCCCTCGTACTGCTCCA	0.657000														172			11		0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705663	4705663	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4705663C>T	uc021waf.1	+	0	466	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	PRND_uc002wkz.3_Missense_Mutation_p.R156W	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	156					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						CGCAGGACTTCGGGTCACCAT	0.597000														99			9		0	0	1	0	0
CCRL1	51554	broad.mit.edu	37	3	132320091	132320091	+	Missense_Mutation	SNP	G	A	A	rs139794831		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:132320091G>A	uc003eow.3	+	1	933	c.850G>A	c.(850-852)Gcc>Acc	p.A284T	NPHP3_uc003eov.4_Intron|NPHP3_uc011blr.1_Intron|CCRL1_uc003eox.3_Missense_Mutation_p.A284T	NM_016557	NP_848540	Q9NPB9	CCRL1_HUMAN	Homo sapiens chemokine (C-C motif) receptor-like 1 (CCRL1), transcript variant 2, mRNA.	284					chemotaxis|immune response	integral to plasma membrane	C-C chemokine receptor activity			breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17						CATGGACATCGCCATCCAAGT	0.443000														449			48		0	0	1	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028774	59028774	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028774G>A	uc002qtd.3	-	1	559	c.267C>T	c.(265-267)agC>agT	p.S89S	ZBTB45_uc002qtf.3_Silent_p.S89S	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	89	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CGAGCGAACCGCTGTACAGGA	0.602000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		176			55		0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879480	73879480	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:73879480C>T	uc011dyh.2	+	11	1884	c.1537C>T	c.(1537-1539)Ctt>Ttt	p.L513F	KCNQ5_uc011dyi.2_Missense_Mutation_p.L504F|KCNQ5_uc010kat.3_Missense_Mutation_p.L485F|KCNQ5_uc003pgk.3_Missense_Mutation_p.L494F|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.L244F	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	494					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGACACAGCCCTTGGCACTGA	0.433000														66			10		0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25425606	25425606	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25425606A>C	uc001upr.3	+	23	3258	c.3217A>C	c.(3217-3219)Aca>Cca	p.T1073P	RNF17_uc010tdd.1_Missense_Mutation_p.T932P|RNF17_uc010tde.2_Missense_Mutation_p.T1069P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1012P|RNF17_uc010aac.3_Missense_Mutation_p.T271P|RNF17_uc010aad.3_Missense_Mutation_p.T125P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1073					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAACAACACAACATGGCCATT	0.343000														60			10		0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55282321	55282321	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55282321G>A	uc010erz.1	+	1	93	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_Non-coding_Transcript|KIR2DL1_uc002qhb.1_Missense_Mutation_p.A19T	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	19					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.A19S(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTGCAGGGGGCCTGGCCACA	0.562000														154			79		0	0	1	0	0
PDE8A	5151	broad.mit.edu	37	15	85652283	85652283	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85652283G>A	uc002blh.3	+	12	1226	c.1037_splice	c.e12-1	p.D346_splice	PDE8A_uc021stv.1_Splice_Site_p.D274_splice|PDE8A_uc002bli.3_Splice_Site_p.D300_splice|PDE8A_uc010bnc.3_Splice_Site_p.D99_splice|PDE8A_uc010bnd.3_Splice_Site_p.D99_splice|PDE8A_uc002blj.3_Splice_Site|PDE8A_uc002blk.3_Splice_Site	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	346					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGTTTCTACAGATAATCAGAC	0.348000														74			17		0	0	1	0	0
KIAA0319	9856	broad.mit.edu	37	6	24572854	24572854	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24572854C>A	uc011djo.2	-	10	2307	c.1807G>T	c.(1807-1809)Gat>Tat	p.D603Y	KIAA0319_uc011djp.2_Missense_Mutation_p.D558Y|KIAA0319_uc003neh.1_Missense_Mutation_p.D603Y|KIAA0319_uc011djq.1_Missense_Mutation_p.D594Y|KIAA0319_uc011djr.1_Missense_Mutation_p.D603Y|KIAA0319_uc010jpt.1_Missense_Mutation_p.D14Y	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	603	PKD 3.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTTGAAGAATCTGTCACCTTC	0.413000														69			21		1.22574e-08	1.34739e-08	1	1	0
KIAA1841	84542	broad.mit.edu	37	2	61336419	61336419	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61336419T>C	uc002saw.4	+	15	2035	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P	KIAA1841_uc002sax.4_Missense_Mutation_p.S432P|KIAA1841_uc002say.3_Missense_Mutation_p.S578P	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	578										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			AGAAGAAGTATCCAAGAAACA	0.353000														135			7		0	0	1	0	0
RINT1	60561	broad.mit.edu	37	7	105204333	105204333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:105204333C>T	uc003vda.1	+	11	2056	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	RINT1_uc010ljj.1_Missense_Mutation_p.R184C	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	609	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TATGTTGACCCGTCAAGTAGA	0.383000														76			13		0	0	1	0	0
AMIGO1	57463	broad.mit.edu	37	1	110051532	110051532	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110051532C>T	uc021org.1	-	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	AMIGO1_uc001dxx.4_Missense_Mutation_p.M1I	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	1					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTGGGGGTGCATAGTGTCAC	0.617000														21			15		0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46342045	46342045	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46342045G>A	uc021qil.1	+	10	1924	c.1489G>A	c.(1489-1491)Gac>Aac	p.D497N	CREB3L1_uc021qik.1_Missense_Mutation_p.D497N|CREB3L1_uc001ncg.3_Missense_Mutation_p.D131N	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	497					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CACCAGCCCCGACTTCTCCCA	0.632000			T	FUS	myxofibrosarcoma									24			5		0	0	1	0	0
AHCYL2	23382	broad.mit.edu	37	7	129019543	129019543	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129019543C>T	uc011kov.2	+	1	491	c.428C>T	c.(427-429)tCt>tTt	p.S143F	AHCYL2_uc003vot.3_Missense_Mutation_p.S142F|AHCYL2_uc003vov.3_Missense_Mutation_p.S40F|AHCYL2_uc011kox.2_Missense_Mutation_p.S40F	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	143					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GGACGTCGCTCTTTGTCTCGT	0.428000														48			11		0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11606439	11606439	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11606439G>A	uc011kxc.1	+	1	1088	c.631G>A	c.(631-633)Gac>Aac	p.D211N	GATA4_uc003wub.1_Missense_Mutation_p.D4N|GATA4_uc003wuc.2_Missense_Mutation_p.D210N	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	210					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TATGTTTGACGACTTCTCAGA	0.517000														269			62		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17700424	17700424	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17700424G>A	uc002grm.3	+	2	4631	c.4162G>A	c.(4162-4164)Ggg>Agg	p.G1388R	RAI1_uc002grn.1_Missense_Mutation_p.G1388R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	1388						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGTGGGCACCGGGCAGAAGCT	0.532000														221			36		0	0	1	0	0
DARS	1615	broad.mit.edu	37	2	136673868	136673868	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136673868C>T	uc002tux.1	-	10	1218	c.1034G>A	c.(1033-1035)aGa>aAa	p.R345K	DARS_uc010fnj.1_Missense_Mutation_p.R245K	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	345					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ATATTCTAGTCTTAGAGTTGG	0.368000														124			12		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54674996	54674996	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54674996G>T	uc003jpy.4	+	17	2291	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	SKIV2L2_uc011cqi.2_Silent_p.V574V	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	675					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GAGTAGTGGTGAATTTCTCAA	0.294000														49			9		1.12685e-05	1.18529e-05	1	1	0
AKAP12	9590	broad.mit.edu	37	6	151672017	151672017	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151672017G>A	uc011eep.2	+	3	2731	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T	AKAP12_uc003qoe.3_Missense_Mutation_p.A831T|AKAP12_uc003qof.3_Missense_Mutation_p.A733T|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.A726T	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	831					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	p.A831S(2)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTTGAAGACGCAGGGCCAAC	0.512000														253			60		0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124545184	124545184	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124545184C>T	uc001qap.3	+	1	160	c.24C>T	c.(22-24)acC>acT	p.T8T	SIAE_uc001qan.3_5'Flank|SIAE_uc021qru.1_5'UTR|SIAE_uc001qao.2_5'Flank	NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	8					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TCTCCAACACCCACTACCGAA	0.418000														125			22		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	74003513	74003513	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74003513T>C	uc002avv.1	+	9	1816	c.1582_splice	c.e9+2	p.D528_splice	CD276_uc002avu.1_Silent_p.G528G|CD276_uc002avw.1_Splice_Site_p.D310_splice|CD276_uc010ulb.1_Splice_Site_p.D474_splice	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	528					T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GCAAAGAAGGTAAAGACACCT	0.532000														102			27		0	0	1	0	0
TRH	7200	broad.mit.edu	37	3	129695746	129695746	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129695746G>A	uc003enc.3	+	2	977	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	139					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CATCCTGGCCGGCGCTCCCCC	0.632000														187			47		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100630208	100630208	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100630208G>A	uc010nno.2	-	1	400	c.167C>T	c.(166-168)cCt>cTt	p.P56L	BTK_uc004ehg.2_Missense_Mutation_p.P22L|BTK_uc010nnn.2_Missense_Mutation_p.P22L|BTK_uc004ehi.3_Missense_Mutation_p.P22L	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	22	PH.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.S55A(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GAAGTTTAGAGGTGATGTTTT	0.443000									Agammaglobulinemia, X-linked					161			54		0	0	1	0	0
DIO2	1734	broad.mit.edu	37	14	80669239	80669239	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:80669239C>T	uc021rxa.1	-	2	776	c.723G>A	c.(721-723)ccG>ccA	p.P241P	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Silent_p.P205P|DIO2_uc010asy.3_Silent_p.P205P	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	205					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.P205P(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GGCACTGGGGCGGCAAGGAGA	0.537000											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		159			13		0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49852631	49852631	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49852631C>T	uc001vcu.3	+	6	1323	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	CDADC1_uc021rjm.1_Missense_Mutation_p.A399V|CDADC1_uc010tgk.2_Missense_Mutation_p.A201V|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	399							hydrolase activity|zinc ion binding	p.A399E(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATCATACATGCGGAACAGAAT	0.353000														155			32		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452324	138452324	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138452324T>G	uc003ihe.4	-	0	1306	c.919A>C	c.(919-921)Act>Cct	p.T307P	PCDH18_uc003ihf.4_Missense_Mutation_p.T300P|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.T87P|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	307	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TTGAAAAGAGTCAAATGTCCT	0.378000														71			14		0	0	1	0	0
ZNF18	7566	broad.mit.edu	37	17	11896000	11896000	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11896000G>T	uc002gng.1	-	3	752	c.147C>A	c.(145-147)taC>taA	p.Y49*	ZNF18_uc002gnh.1_Nonsense_Mutation_p.Y49*|ZNF18_uc002gni.1_Nonsense_Mutation_p.Y49*	NM_144680	NP_653281	P17022	ZNF18_HUMAN	Homo sapiens zinc finger protein 18 (ZNF18), mRNA.	49	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		ACATCACCTGGTAACGGAACT	0.547000														148			22		3.62473e-10	4.06567e-10	1	1	0
NFIC	4782	broad.mit.edu	37	19	3381920	3381920	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3381920C>T	uc010xhi.2	+	1	311	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C	NFIC_uc002lxo.3_Missense_Mutation_p.R72C|NFIC_uc010xhh.2_Missense_Mutation_p.R72C|NFIC_uc010xhj.2_Missense_Mutation_p.R81C|NFIC_uc002lxp.3_Missense_Mutation_p.R81C	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	81					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		GGCCAAGCTGCGCAAGGACAT	0.672000														331			85		0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34648390	34648390	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34648390C>A	uc003zve.3	+	6	691	c.624C>A	c.(622-624)gcC>gcA	p.A208A	GALT_uc003zvf.3_Silent_p.A99A|GALT_uc011lop.1_Silent_p.A160A|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	208					galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTCAGCAGGCCTATAAGAGTC	0.572000									Galactosemia					180			40		6.97489e-18	8.39457e-18	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85605150	85605150	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85605150G>A	uc003hpd.3	-	62	10080	c.9672C>T	c.(9670-9672)aaC>aaT	p.N3224N	WDFY3_uc003hpc.3_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3224						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTCCCATTCGTTCATCTCCG	0.478000														117			28		0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9010616	9010616	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9010616A>C	uc001quz.4	+	25	3280	c.3182A>C	c.(3181-3183)gAt>gCt	p.D1061A	A2ML1_uc001qva.1_Missense_Mutation_p.D641A|A2ML1_uc010sgm.2_Missense_Mutation_p.D561A	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	905						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						AACATCCAGGATGCTCTCAAG	0.488000														125			33		0	0	1	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063034	76063034	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76063034A>C	uc001oxh.1	-	4	1160	c.1160T>G	c.(1159-1161)gTt>gGt	p.V387G	PRKRIR_uc021qnn.1_Missense_Mutation_p.V212G|PRKRIR_uc010rrz.1_Missense_Mutation_p.V212G	NM_004705	NP_004696	O43422	P52K_HUMAN	Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA.	387					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AAAAGAACAAACTTCCTCAAT	0.383000														87			26		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	825229	825229	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:825229G>A	uc010krz.1	+	12	2527	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	HEATR2_uc003siz.2_Missense_Mutation_p.R704H|HEATR2_uc003sjb.2_Missense_Mutation_p.R216H|HEATR2_uc003sjc.2_Missense_Mutation_p.R261H	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	836							protein binding	p.R836S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CACAAGCACCGCTCGGCCACC	0.607000														186			44		0	0	1	0	0
HK1	3098	broad.mit.edu	37	10	71119777	71119777	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71119777C>T	uc001jpl.4	+	2	452	c.351C>T	c.(349-351)aaC>aaT	p.N117N	HK1_uc001jpg.4_Silent_p.N105N|HK1_uc001jph.4_Silent_p.N121N|HK1_uc001jpi.4_Silent_p.N121N|HK1_uc001jpj.4_Silent_p.N152N|HK1_uc001jpk.4_Silent_p.N116N|HK1_uc009xqd.3_Intron	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	117	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CCCCAGAGAACATCGTGCACG	0.562000														158			21		0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40266508	40266508	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40266508G>A	uc002hyx.2	-	14	2194	c.2134_splice	c.e14+1	p.R712_splice	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	Homo sapiens K(lysine) acetyltransferase 2A (KAT2A), mRNA.	712					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGCTTACGAATGCCAGGA	0.587000														441			57		0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42162667	42162667	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42162667A>G	uc001zos.3	-	29	5767	c.5434T>C	c.(5434-5436)Ttg>Ctg	p.L1812L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1847					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGGACTTCCAAGAGATCTCTG	0.647000														87			15		0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	11984701	11984701	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11984701T>G	uc002gnj.3	+	2	316	c.247T>G	c.(247-249)Tca>Gca	p.S83A	MAP2K4_uc002gnk.3_Missense_Mutation_p.S94A|MAP2K4_uc010vvi.2_5'UTR|MAP2K4_uc010vvj.2_Intron|MIR744_uc021tqg.1_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	83					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGCATTGAGTCATCAGGAAA	0.378000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									75			36		0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101215160	101215160	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:101215160T>C	uc003pqk.3	-	8	1786	c.1457A>G	c.(1456-1458)gAg>gGg	p.E486G	ASCC3_uc011eai.1_Missense_Mutation_p.E388G|ASCC3_uc003pql.3_Missense_Mutation_p.E486G	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	486	Helicase ATP-binding 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAGGCAGTCTCAAACACTAT	0.398000														112			28		0	0	1	0	0
GPR137B	7107	broad.mit.edu	37	1	236347193	236347193	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236347193C>A	uc001hxq.3	+	4	1044	c.953C>A	c.(952-954)cCt>cAt	p.P318H		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	318						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GTTAGAAATCCTACAAAGGAC	0.363000														62			6		0.00116845	0.00119477	1	1	0
ANKRD17	26057	broad.mit.edu	37	4	73944497	73944497	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73944497G>T	uc003hgp.3	-	30	7387	c.7270C>A	c.(7270-7272)Cca>Aca	p.P2424T	ANKRD17_uc003hgo.3_Missense_Mutation_p.P2311T|ANKRD17_uc003hgq.3_Missense_Mutation_p.P2173T|ANKRD17_uc003hgr.3_Missense_Mutation_p.P2423T	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2424					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATAGGGACTGGAACTTTCCTG	0.498000														98			9		1.12685e-05	1.18529e-05	1	1	0
KLK7	5650	broad.mit.edu	37	19	51483600	51483600	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51483600G>A	uc002puo.3	-	3	467	c.365C>T	c.(364-366)gCc>gTc	p.A122V	KLK7_uc002pup.3_Missense_Mutation_p.A122V|KLK7_uc021uyj.1_Missense_Mutation_p.A115V|KLK7_uc010eok.3_Missense_Mutation_p.A50V	NM_139277	NP_001193982	P49862	KLK7_HUMAN	Homo sapiens kallikrein-related peptidase 7 (KLK7), transcript variant 2, mRNA.	122	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		TGACAGCCTGGCCTGGCTATT	0.592000														82			21		0	0	1	0	0
KCNJ10	3766	broad.mit.edu	37	1	160011435	160011435	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160011435C>T	uc001fuw.2	-	1	1128	c.888G>A	c.(886-888)gtG>gtA	p.V296V		NM_002241	NP_002232	P78508	IRK10_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 10 (KCNJ10), mRNA.	296						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGAAGTGCGCACCTGACAGG	0.537000														90			16		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31011607	31011607	+	Missense_Mutation	SNP	T	A	A	rs113331651		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31011607T>A	uc003aip.2	+	5	1022	c.773T>A	c.(772-774)aTg>aAg	p.M258K	TCN2_uc003air.2_Missense_Mutation_p.M231K	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	258					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACTTCCCCCATGCGTGGGGCA	0.577000														94			20		0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901952	129901952	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:129901952C>T	uc001lke.3	-	12	8347	c.8152G>A	c.(8152-8154)Gca>Aca	p.A2718T	MKI67_uc001lkf.3_Missense_Mutation_p.A2358T|MKI67_uc009yav.1_Missense_Mutation_p.A2293T|MKI67_uc009yaw.1_Missense_Mutation_p.A1868T	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2718	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGTGCTTGCTGTGGTGTCT	0.493000														189			33		0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76803497	76803497	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76803497C>T	uc002jvz.1	-	13	1954	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	USP36_uc002jwa.1_Silent_p.Q543Q|USP36_uc002jwb.1_Silent_p.Q180Q|USP36_uc002jwc.1_Silent_p.Q243Q	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	543					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGGAAAAGTGCTGTGGAGGAG	0.602000														87			19		0	0	1	0	0
SLC37A2	219855	broad.mit.edu	37	11	124951718	124951718	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124951718C>T	uc010sau.2	+	8	1052	c.801C>T	c.(799-801)agC>agT	p.S267S	SLC37A2_uc001qbn.3_Silent_p.S267S|SLC37A2_uc010sav.1_5'Flank|SLC37A2_uc001qbp.3_5'Flank	NM_198277	NP_938018	Q8TED4	SPX2_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 2 (SLC37A2), transcript variant 1, mRNA.	267					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		TCAGGGAGAGCGGCCTTGAGA	0.597000														112			19		0	0	1	0	0
DGCR5	26220	broad.mit.edu	37	22	18975272	18975272	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18975272C>T	uc021wku.1	+	1		c.164C>T			DGCR5_uc002zon.2_Non-coding_Transcript|DGCR5_uc021wkv.1_Intron					Homo sapiens DiGeorge syndrome critical region gene 5 (non-protein coding) (DGCR5), transcript variant 1, non-coding RNA.																		CCCCCCAGTTCTTGCTGTCGA	0.498000														43			9		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049628	47049628	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47049628C>T	uc003cqp.3	+	49	7850	c.7671C>T	c.(7669-7671)agC>agT	p.S2557S	NBEAL2_uc010hjm.2_Silent_p.S1934S|NBEAL2_uc010hjn.2_Silent_p.S923S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2557							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGCAGTGAGCTGTGTGGCCA	0.587000														72			12		0	0	1	0	0
MORN1	79906	broad.mit.edu	37	1	2318897	2318897	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2318897C>T	uc001ajb.1	-	3	340	c.319G>A	c.(319-321)Gga>Aga	p.G107R	MORN1_uc009vld.3_Missense_Mutation_p.G83R|MORN1_uc001ajd.1_Missense_Mutation_p.G107R|MORN1_uc010nyy.2_Silent_p.A49A	NM_024848	NP_079124	Q5T089	MORN1_HUMAN	Homo sapiens MORN repeat containing 1 (MORN1), mRNA.	107										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TCATAACATCCGCCGGCTTTG	0.597000														232			27		0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51092833	51092833	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:51092833G>A	uc003tps.3	-	12	3956	c.3771C>T	c.(3769-3771)tcC>tcT	p.S1257S	COBL_uc003tpr.4_Silent_p.S1247S|COBL_uc011kcl.2_Silent_p.S1200S|COBL_uc003tpp.4_Silent_p.S1033S|COBL_uc003tpq.4_Silent_p.S1141S|COBL_uc003tpo.4_Silent_p.S789S	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	1247	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCCCTGTGCCGGAGCGGATGG	0.632000														302			54		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183873534	183873534	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183873534G>A	uc003fms.3	+	0	251	c.111G>A	c.(109-111)ttG>ttA	p.L37L	DVL3_uc011bqw.2_Silent_p.L37L|DVL3_uc003fmt.3_5'Flank	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	37	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGGGCGTTTTGCAGCGACCCA	0.622000														149			34		0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113803401	113803401	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113803401G>A	uc001vsx.3	+	7	1094	c.1037G>A	c.(1036-1038)cGt>cAt	p.R346H	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	346	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCCCGAGCGTGACTGGGCC	0.642000														213			59		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2130329	2130329	+	Silent	SNP	G	A	A	rs137854121		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2130329G>A	uc002con.3	+	29	3667	c.3561G>A	c.(3559-3561)gtG>gtA	p.V1187V	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.V1187V|TSC2_uc002coo.3_Silent_p.V1143V|TSC2_uc010uvv.2_Silent_p.V1107V|TSC2_uc010uvw.2_Silent_p.V1095V|TSC2_uc002cop.3_Silent_p.V943V|TSC2_uc002coq.3_5'Flank	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1187					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGGCCTATGTGCCCCTGCTGA	0.662000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					223			51		0	0	1	0	0
KDM1B	221656	broad.mit.edu	37	6	18197423	18197423	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:18197423G>A	uc003nco.1	+	3	571	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	KDM1B_uc003ncn.1_Missense_Mutation_p.V237M	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	369					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGTTCTCAGCGTGGGAGCCGA	0.478000														69			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105412916	105412916	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105412916C>T	uc010axc.1	-	6	8992	c.8872G>A	c.(8872-8874)Gca>Aca	p.A2958T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A2858T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2958						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCCGTGCACCATCCAGC	0.627000														660			178		0	0	1	0	0
ANXA8L2	244	broad.mit.edu	37	10	47756730	47756730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:47756730G>A	uc001jem.3	+	7	836	c.644G>A	c.(643-645)aGa>aAa	p.R215K	ANXA8L2_uc010qgb.2_Missense_Mutation_p.R158K|ANXA8L2_uc001jen.3_Missense_Mutation_p.R196K|ANXA8L2_uc001jeo.2_Intron	NM_001630	NP_001621	Q5VT79	AXA82_HUMAN	Homo sapiens annexin A8-like 2 (ANXA8L2), mRNA.	215							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|pancreas(1)	2						CACCTGCTGAGAGGTACCAGG	0.587000														87			26		0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88420315	88420315	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:88420315G>A	uc002bme.2	-	19	2677	c.2371C>T	c.(2371-2373)Cgg>Tgg	p.R791W	NTRK3_uc002bmh.2_Missense_Mutation_p.R769W|NTRK3_uc002bmf.2_Missense_Mutation_p.R777W|NTRK3_uc021sua.1_Missense_Mutation_p.R769W	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	791	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTCGGGGCCGCTCCAAAACA	0.527000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)				90			23		0	0	1	0	0
ZNF708	7562	broad.mit.edu	37	19	21492088	21492088	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21492088G>T	uc002npq.1	-	2	384	c.186C>A	c.(184-186)ccC>ccA	p.P62P	ZNF708_uc002npr.1_5'UTR|ZNF708_uc010ecs.1_5'UTR	NM_021269	NP_067092	P17019	ZN708_HUMAN	Homo sapiens zinc finger protein 708 (ZNF708), mRNA.	62	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TCATATTCCAGGGCTCTTTTC	0.418000														175			29		4.39465e-27	5.50204e-27	1	1	0
UACA	55075	broad.mit.edu	37	15	70970515	70970515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:70970515C>T	uc002asr.3	-	10	1026	c.922G>A	c.(922-924)Gag>Aag	p.E308K	UACA_uc010uke.2_Missense_Mutation_p.E199K|UACA_uc002asq.3_Missense_Mutation_p.E295K|UACA_uc010bin.1_Missense_Mutation_p.E294K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	308						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTCAACCTCTCTTTCAAATCT	0.303000														52			6		0	0	1	0	0
CAMP	820	broad.mit.edu	37	3	48266102	48266102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48266102C>T	uc003csj.2	+	2	484	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W		NM_004345	NP_004336	P49913	CAMP_HUMAN	Homo sapiens cathelicidin antimicrobial peptide (CAMP), mRNA.	107					killing by host of symbiont cells|negative regulation of growth of symbiont on or near host surface	extracellular region				endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000614)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCTGGTGAAGCGGTGTATGGG	0.562000														166			24		0	0	1	0	0
NUDCD3	23386	broad.mit.edu	37	7	44467174	44467174	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44467174T>G	uc003tkz.3	-	2	824	c.638A>C	c.(637-639)aAg>aCg	p.K213T	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	213	CS.									endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CATTACCTGCTTTCCCTTCAC	0.567000														173			34		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38783391	38783391	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38783391G>A	uc021yzh.1	+	25	3590	c.3481G>A	c.(3481-3483)Gtg>Atg	p.V1161M	DNAH8_uc003ooe.2_Missense_Mutation_p.V944M	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTACTGACGTGACCCATCA	0.453000														53			18		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91690610	91690610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91690610C>T	uc003ulg.3	+	22	5863	c.5638C>T	c.(5638-5640)Cgt>Tgt	p.R1880C	AKAP9_uc003ulf.3_Missense_Mutation_p.R1880C|AKAP9_uc003uli.3_Missense_Mutation_p.R1503C	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1892	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAGTTGATGCGTGAGTCATT	0.428000			T	BRAF	papillary thyroid									89			6		0	0	1	0	0
PRDM13	59336	broad.mit.edu	37	6	100062174	100062174	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100062174G>T	uc003pqg.1	+	3	1924	c.1663G>T	c.(1663-1665)Ggc>Tgc	p.G555C		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	555	Poly-Gly.				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)		ggcggcgggaggcaccggggg	0.701000														66			8		1.06961e-07	1.15953e-07	1	1	0
NISCH	11188	broad.mit.edu	37	3	52521339	52521339	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521339C>T	uc003ded.4	+	15	1965	c.1831C>T	c.(1831-1833)Cgg>Tgg	p.R611W	NISCH_uc003dee.4_Missense_Mutation_p.R100W|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	611	Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CACACTGATCCGGCAGGCCAT	0.647000														251			43		0	0	1	0	0
RAI14	26064	broad.mit.edu	37	5	34824489	34824489	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:34824489G>T	uc003jis.3	+	16	3090	c.2551G>T	c.(2551-2553)Gaa>Taa	p.E851*	RAI14_uc003jir.3_Nonsense_Mutation_p.E848*|RAI14_uc010iur.3_Nonsense_Mutation_p.E819*|RAI14_uc011coj.2_Nonsense_Mutation_p.E848*|RAI14_uc003jit.3_Nonsense_Mutation_p.E848*|RAI14_uc011cok.2_Nonsense_Mutation_p.E840*	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	848						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CAAAGAGCAAGAAGTAAATGA	0.393000														102			18		7.07596e-05	7.35997e-05	1	1	0
CCDC14	64770	broad.mit.edu	37	3	123665936	123665936	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123665936T>C	uc011bjx.2	-	7	1150	c.1059A>G	c.(1057-1059)acA>acG	p.T353T	CCDC14_uc003egv.4_Intron|CCDC14_uc003egx.4_Silent_p.T153T|CCDC14_uc010hrt.3_Silent_p.T312T|CCDC14_uc003egy.4_Silent_p.T153T|CCDC14_uc003egz.2_Silent_p.T153T	NM_022757	NP_073594	Q49A88	CCD14_HUMAN	Homo sapiens coiled-coil domain containing 14 (CCDC14), mRNA.	353						centrosome				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAGACAAATATGTTTGAATAC	0.413000														213			33		0	0	1	0	0
STAU1	6780	broad.mit.edu	37	20	47734381	47734381	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47734381A>G	uc002xud.3	-	10	1853	c.1442T>C	c.(1441-1443)gTa>gCa	p.V481A	STAU1_uc002xua.3_Missense_Mutation_p.V400A|STAU1_uc002xub.3_Missense_Mutation_p.V406A|STAU1_uc002xuc.3_Missense_Mutation_p.V400A|STAU1_uc002xue.3_Missense_Mutation_p.V400A|STAU1_uc002xuf.3_Missense_Mutation_p.V406A|STAU1_uc002xug.3_Missense_Mutation_p.V481A	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	481						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TCCATGGGGTACGTGGCCTGA	0.542000														143			32		0	0	1	0	0
CLIC5	53405	broad.mit.edu	37	6	45870911	45870911	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:45870911G>A	uc003oxv.3	-	5	1253	c.1147C>T	c.(1147-1149)Cgt>Tgt	p.R383C	CLIC5_uc003oxu.3_Missense_Mutation_p.R224C	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383	GST C-terminal.				female pregnancy	Golgi apparatus|actin cytoskeleton|cell cortex|chloride channel complex|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AACTCATCACGGGCATAGGCG	0.537000														118			24		0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45504624	45504624	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45504624G>T	uc001cnd.2	-	7	2106	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	626							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCTCCAGATAGCCATCATCAT	0.552000														90			8		5.18039e-06	5.47662e-06	1	1	0
LPP	4026	broad.mit.edu	37	3	188327248	188327248	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188327248T>G	uc003frs.2	+	5	975	c.729T>G	c.(727-729)atT>atG	p.I243M	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.I243M|LPP_uc003frt.3_Missense_Mutation_p.I243M|LPP_uc011bsj.2_Missense_Mutation_p.I80M	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	243	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CAGGACAAATTTATGGCTCAG	0.542000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									114			23		0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947056	101947056	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:101947056T>C	uc011cen.1	-	13	2207	c.1532A>G	c.(1531-1533)gAc>gGc	p.D511G	PPP3CA_uc003hvu.2_Missense_Mutation_p.D501G|PPP3CA_uc010ilj.2_Missense_Mutation_p.D459G|PPP3CA_uc003hvt.2_Missense_Mutation_p.D488G|PPP3CA_uc003hvs.2_Missense_Mutation_p.D444G|PPP3CA_uc010ilk.2_Missense_Mutation_p.D279G	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	511					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCATTGCTGTCCGTGCCGTT	0.458000														280			46		0	0	1	0	0
BRF2	55290	broad.mit.edu	37	8	37702272	37702272	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37702272C>T	uc003xkk.3	-	3	1126	c.996G>A	c.(994-996)ggG>ggA	p.G332G		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	332					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CTTCTCCTTGCCCCTGTCCCC	0.617000														94			24		0	0	1	0	0
PEX7	5191	broad.mit.edu	37	6	137191085	137191085	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137191085G>A	uc003qhd.3	+	6	793	c.691G>A	c.(691-693)Gta>Ata	p.V231I	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	231					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		CTTAAGGAATGTACGACAACC	0.363000														331			29		0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587641	58587641	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58587641C>T	uc002ybe.3	+	17	2666	c.2355C>T	c.(2353-2355)agC>agT	p.S785S	CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Silent_p.S118S|CDH26_uc002ybi.3_Silent_p.S77S	NM_177980	NP_817089	Q8IXH8	CAD26_HUMAN	Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA.	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACGTCTACAGCGAGGAAGGGG	0.547000														146			42		0	0	1	0	0
ALLC	55821	broad.mit.edu	37	2	3745013	3745013	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:3745013A>C	uc010ewt.3	+	9	978	c.817A>C	c.(817-819)Act>Cct	p.T273P	ALLC_uc002qyf.3_Missense_Mutation_p.T44P	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	292							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TGGAGTAATAACTCGAATTGA	0.368000										HNSCC(21;0.051)				122			18		0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45322676	45322676	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45322676G>A	uc002ozu.3	+	11	1591	c.1547G>A	c.(1546-1548)aGc>aAc	p.S516N	BCAM_uc002ozt.1_Missense_Mutation_p.S516N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	516	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCGCCCTGAGCCGCGATGGC	0.652000														218			54		0	0	1	0	0
TRAF3IP1	26146	broad.mit.edu	37	2	239234548	239234548	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239234548G>A	uc002vye.3	+	2	410	c.291G>A	c.(289-291)gcG>gcA	p.A97A	TRAF3IP1_uc002vyf.3_Silent_p.A97A	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN	Homo sapiens TNF receptor-associated factor 3 interacting protein 1 (TRAF3IP1), transcript variant 1, mRNA.	97	Abolishes microtubules-binding when missing.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GAATCGTGGCGGGGCATGAGC	0.468000														75			31		0	0	1	0	0
SRSF4	6429	broad.mit.edu	37	1	29475125	29475125	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29475125G>A	uc001bro.3	-	5	1655	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	SRSF4_uc010ofy.2_3'UTR	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	Homo sapiens serine/arginine-rich splicing factor 4 (SRSF4), mRNA.	428	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	RNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CTCTCTCCTCGACCTTCCCTC	0.547000														450			18		0	0	1	0	0
UTP14A	10813	broad.mit.edu	37	X	129045772	129045772	+	Missense_Mutation	SNP	G	A	A	rs150155910		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129045772G>A	uc004euz.3	+	5	502	c.412G>A	c.(412-414)Gca>Aca	p.A138T	UTP14A_uc011mup.2_Intron|UTP14A_uc011muq.2_Missense_Mutation_p.A84T	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	138					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAATAAAACCGCACAAGTCCT	0.498000														171			63		0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46661801	46661801	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46661801T>A	uc003oyj.3	+	0	6190	c.5936T>A	c.(5935-5937)tTt>tAt	p.F1979Y	TDRD6_uc010jze.3_Missense_Mutation_p.F1979Y	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1979					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GAAGAAGAATTTGTAGAGTAT	0.388000														120			24		0	0	1	0	0
DHFR	1719	broad.mit.edu	37	5	79945254	79945254	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79945254G>A	uc003kgy.1	-	2	688	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DHFR_uc011ctl.2_Nonsense_Mutation_p.R224*|DHFR_uc011ctm.2_Non-coding_Transcript|DHFR_uc010jap.2_Non-coding_Transcript	NM_000791	NP_000782	P00374	DYR_HUMAN	Homo sapiens dihydrofolate reductase (DHFR), mRNA.	66	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	NADP binding|dihydrofolate reductase activity|drug binding|folate reductase activity			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTTAAAGGTCGATTCTTCTCA	0.348000														69			13		0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71267726	71267726	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:71267726G>A	uc001xmm.3	-	1	478	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	MAP3K9_uc001xml.3_Missense_Mutation_p.R160C	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	160	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.R160H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CAGAAAGCACGATAGACCTTC	0.488000														141			34		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43483972	43483972	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43483972G>C	uc003tid.1	+	10	1806	c.1201G>C	c.(1201-1203)Gtc>Ctc	p.V401L	HECW1_uc011kbi.1_Missense_Mutation_p.V401L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	401					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGAGGGCAGTGTCCCCGATGG	0.602000														83			24		0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185407235	185407235	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:185407235C>T	uc003fpo.3	-	5	664	c.585G>A	c.(583-585)ccG>ccA	p.P195P	IGF2BP2_uc010hyi.3_Silent_p.P138P|IGF2BP2_uc010hyj.3_Silent_p.P132P|IGF2BP2_uc010hyk.3_Silent_p.P59P|IGF2BP2_uc010hyl.3_Silent_p.P132P|IGF2BP2_uc003fpp.3_Silent_p.P195P|IGF2BP2_uc003fpq.3_Silent_p.P200P	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	195	KH 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATCCGCAGCGGGAAATCAA	0.622000														242			54		0	0	1	0	0
DROSHA	29102	broad.mit.edu	37	5	31423045	31423045	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31423045C>T	uc003jhg.2	-	27	3627	c.3268G>A	c.(3268-3270)Gag>Aag	p.E1090K	DROSHA_uc003jhh.2_Missense_Mutation_p.E1053K|DROSHA_uc003jhi.2_Missense_Mutation_p.E1053K	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	1090	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1090*(2)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTATTTGGCTCTTGTAGCTAC	0.308000														24			6		0	0	1	0	0
TCF25	22980	broad.mit.edu	37	16	89971399	89971399	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89971399T>C	uc002fpb.2	+	13	1605	c.1523T>C	c.(1522-1524)tTt>tCt	p.F508S	TCF25_uc002fpc.2_Missense_Mutation_p.F273S|TCF25_uc002fpd.1_Missense_Mutation_p.F106S	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	508					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		AGGTCACACTTTCTCTGGAAA	0.632000														31			10		0	0	1	0	0
CDK5RAP3	80279	broad.mit.edu	37	17	46056230	46056230	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46056230A>T	uc010wlc.2	+	10	1208	c.1084A>T	c.(1084-1086)Aca>Tca	p.T362S	CDK5RAP3_uc002imq.1_Missense_Mutation_p.T117S|CDK5RAP3_uc002imr.3_Missense_Mutation_p.T342S|CDK5RAP3_uc002ims.3_Missense_Mutation_p.T255S	NM_176096	NP_788276	Q96JB5	CK5P3_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 3 (CDK5RAP3), mRNA.	342					brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation		neuronal Cdc2-like kinase binding			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						AGATGCCCTGACACTGCTTGA	0.537000											OREG0024508	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		151			32		0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10386320	10386320	+	Missense_Mutation	SNP	G	A	A	rs142567076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10386320G>A	uc001aqx.4	+	26	3029	c.2827G>A	c.(2827-2829)Gcc>Acc	p.A943T	KIF1B_uc001aqw.4_Missense_Mutation_p.A897T|KIF1B_uc001aqy.3_Missense_Mutation_p.A917T|KIF1B_uc001aqz.3_Missense_Mutation_p.A943T|KIF1B_uc001ara.3_Missense_Mutation_p.A903T|KIF1B_uc001arb.3_Missense_Mutation_p.A929T	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	943					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.A897T(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CGTGGATGACGCCGGCTCTGA	0.547000														190			50		0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184766325	184766325	+	Missense_Mutation	SNP	G	A	A	rs16859527	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184766325G>A	uc021xik.1	+	45	4203	c.4115G>A	c.(4114-4116)cGt>cAt	p.R1372H	VPS8_uc003fpb.1_Missense_Mutation_p.R1370H|VPS8_uc010hyd.1_Missense_Mutation_p.R1280H|VPS8_uc010hye.1_Missense_Mutation_p.R799H	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1372			R -> H (in dbSNP:rs16859527).				zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CAGCTTTGCCGTCTCTACCGA	0.418000														123			27		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135086319	135086319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135086319C>T	uc021qbe.1	-	7	774	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	ADAM8_uc009ybi.3_Missense_Mutation_p.V230M|ADAM8_uc010qva.2_Missense_Mutation_p.V191M|ADAM8_uc010qvb.1_Missense_Mutation_p.V205M|ADAM8_uc009ybj.2_Non-coding_Transcript	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	191					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ACGTGATTCACCACCTCCAGC	0.672000														91			21		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279702	13279702	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13279702G>A	uc010gce.1	+	5	997	c.991G>A	c.(991-993)Gcc>Acc	p.A331T	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	331	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CACTGAGGTGGCCTACAGCAC	0.582000														64			20		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66925243	66925243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925243C>T	uc002jhq.3	-	8	1412	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	ABCA8_uc002jhp.3_Missense_Mutation_p.E358K|ABCA8_uc010wqq.2_Missense_Mutation_p.E358K|ABCA8_uc010wqr.2_Missense_Mutation_p.E297K|ABCA8_uc002jhr.3_Missense_Mutation_p.E358K	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	358						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AAAATCCACTCCAAGGATGCA	0.478000														65			18		0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47546054	47546054	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47546054C>T	uc002zia.1	+	25	2407	c.2325C>T	c.(2323-2325)atC>atT	p.I775I	COL6A2_uc002zhz.1_Silent_p.I775I|COL6A2_uc002zhy.1_Silent_p.I775I|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	775	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACTCCATCGCCTGCGACA	0.602000														628			72		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167078481	167078481	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:167078481G>T	uc011bpc.2	-	6	641	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	ZBBX_uc003feq.3_Missense_Mutation_p.L73M|ZBBX_uc003fep.3_Missense_Mutation_p.L102M	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	102						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTTCCTTCAGCAATTTTAAT	0.254000														28			6		0.0215528	0.0217347	1	1	0
ZNF687	57592	broad.mit.edu	37	1	151262958	151262958	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151262958A>C	uc001exq.3	+	7	3226	c.3128A>C	c.(3127-3129)aAa>aCa	p.K1043T	ZNF687_uc009wmo.3_Missense_Mutation_p.K1043T|ZNF687_uc009wmp.3_Missense_Mutation_p.E1063D	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	1043					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATCCTAGAGAAACATGTCCAG	0.637000														290			32		0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167262858	167262858	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167262858A>C	uc002udu.2	-	24	4411	c.4281T>G	c.(4279-4281)ctT>ctG	p.L1427L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1427					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CAACTTGAAAAAGACAGAGCA	0.363000														200			45		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73850003	73850003	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73850003G>T	uc001ouu.2	-	4	944	c.717C>A	c.(715-717)gaC>gaA	p.D239E	C2CD3_uc001ouv.2_Missense_Mutation_p.D239E	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	239						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGCATACATGGTCTTTTCCCC	0.363000														47			8		5.18039e-06	5.47662e-06	1	1	0
TAS2R3	50831	broad.mit.edu	37	7	141464292	141464292	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:141464292G>A	uc003vwp.1	+	0	396	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_016943	NP_058639	Q9NYW6	TA2R3_HUMAN	Homo sapiens taste receptor, type 2, member 3 (TAS2R3), mRNA.	112					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					CCTGAAAATCGCCAGTTTCTC	0.463000														352			26		0	0	1	0	0
OVCA2	124641	broad.mit.edu	37	17	1946353	1946353	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1946353C>A	uc002ftx.3	+	1	704	c.639C>A	c.(637-639)ccC>ccA	p.P213P	DPH1_uc002fts.3_3'UTR|DPH1_uc002ftt.3_3'UTR|DPH1_uc010cjx.3_3'UTR|DPH1_uc010vqs.2_3'UTR|DPH1_uc002ftv.3_3'UTR|DPH1_uc002ftw.3_3'UTR	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN	Homo sapiens ovarian tumor suppressor candidate 2 (OVCA2), mRNA.	213					response to retinoic acid	cytoplasm	hydrolase activity										CAGCTGCACCCCAGCGTCAGG	0.562000											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		231			11		0.00010058	0.000104357	1	1	0
XRCC5	7520	broad.mit.edu	37	2	217002842	217002842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217002842G>A	uc002vfy.3	+	11	1422	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	XRCC5_uc002vfz.3_Missense_Mutation_p.E314K	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	428	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GCCTTTCATGGAAGACTTGCG	0.363000								Non-homologous end-joining						71			17		0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301163	18301163	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18301163G>T	uc002zng.4	-	25	4617	c.4264C>A	c.(4264-4266)Ctg>Atg	p.L1422M	MICAL3_uc011agl.2_Missense_Mutation_p.L1338M|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1422	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTGCTGGACAGCTCCCTGCGC	0.682000														179			72		2.17656e-39	2.76628e-39	1	1	0
SLC7A9	11136	broad.mit.edu	37	19	33355629	33355629	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33355629C>T	uc002ntv.4	-	2	258	c.141G>A	c.(139-141)ggG>ggA	p.G47G	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Silent_p.G47G|SLC7A9_uc021usa.1_Silent_p.G47G|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	47					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	AAACGAAGATCCCAGAGCCAA	0.617000														327			83		0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062076	2062076	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2062076G>A	uc001qjx.1	-	6	1110	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	DCP1B_uc010sdy.1_Missense_Mutation_p.R242C	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	Homo sapiens DCP1 decapping enzyme homolog B (S. cerevisiae) (DCP1B), mRNA.	344			R -> H (in dbSNP:rs715146).		exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			TGTACACCACGAGAAGTTCCA	0.507000														127			38		0	0	1	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217279897	217279897	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217279897C>T	uc002vgc.4	+	2	800	c.470C>T	c.(469-471)aCa>aTa	p.T157I	SMARCAL1_uc002vgd.4_Missense_Mutation_p.T157I|SMARCAL1_uc010fvg.3_Missense_Mutation_p.T157I	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	157					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCAGGTTCACACCCTTTGCT	0.507000									Schimke Immuno-Osseous Dysplasia					181			59		0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77896474	77896474	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77896474G>T	uc002lnw.3	+	3	3633	c.3178G>T	c.(3178-3180)Gat>Tat	p.D1060Y		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1060					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTTCTTAAAGATTATTTCCA	0.348000														99			15		7.93312e-07	8.47869e-07	1	1	0
EI24	9538	broad.mit.edu	37	11	125445239	125445239	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125445239T>C	uc009zbl.3	+	2	365	c.123T>C	c.(121-123)cgT>cgC	p.R41R	EI24_uc001qca.3_Silent_p.R41R|EI24_uc001qcb.3_Silent_p.R41R|EI24_uc010sbd.2_Non-coding_Transcript|EI24_uc010sbe.2_Silent_p.R27R|EI24_uc010sbf.2_Intron	NM_004879	NP_004870	O14681	EI24_HUMAN	Homo sapiens etoposide induced 2.4 mRNA (EI24), transcript variant 1, mRNA.	41	Poly-Arg.				apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGGAGCAGCGTCGAAGAAGGG	0.463000														12			3		0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22903205	22903205	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22903205A>G	uc001bfx.1	+	2	780	c.655A>G	c.(655-657)Acg>Gcg	p.T219A	EPHA8_uc001bfw.3_Missense_Mutation_p.T219A	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	219	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T219T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAGGCAGTGACGGGGGCCGA	0.637000														117			11		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5401540	5401540	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5401540C>T	uc003soi.4	-	12	4869	c.4520G>A	c.(4519-4521)cGc>cAc	p.R1507H		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1507							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGAGTCCCGGCGGCGCTGCAG	0.726000														27			4		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25887906	25887906	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:25887906C>T	uc001isj.3	+	10	3411	c.3351C>T	c.(3349-3351)agC>agT	p.S1117S	GPR158_uc001isk.3_Silent_p.S492S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	1117						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGGGCAGAGCGAAGAACTGC	0.473000														136			29		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	377173	377173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:377173C>T	uc001lpb.3	+	13	2059	c.2050C>T	c.(2050-2052)Cgc>Tgc	p.R684C		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	684						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGACTGGCAGCGCACGTTCAG	0.726000														26			5		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3813948	3813948	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3813948G>A	uc002lyw.2	-	13	2124	c.2112C>T	c.(2110-2112)acC>acT	p.T704T		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	704						intracellular	nucleic acid binding|zinc ion binding	p.T704T(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		ACTCATCCTCGGTCACCATCT	0.507000														71			24		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516029	138516029	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138516029C>T	uc010nbd.1	-	4	999	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TGAATAACTCCGTTCAGATAT	0.383000														164			36		0	0	1	0	0
OR5W2	390148	broad.mit.edu	37	11	55681230	55681230	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55681230A>C	uc010rir.2	-	0	829	c.829T>G	c.(829-831)Ttt>Gtt	p.F277V		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGGTGTAAAACAATGAGGTC	0.393000														57			16		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18729430	18729430	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18729430G>A	uc009yht.2	-	19	3391	c.3201C>T	c.(3199-3201)cgC>cgT	p.R1067R	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	672										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTGAGTCAGAGCGCTTGGTGC	0.522000														66			8		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146650981	146650981	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650981T>A	uc001epg.1	+	0	1552	c.1289T>A	c.(1288-1290)gTc>gAc	p.V430D						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		CTGAATATCGTCATAGCCAAG	0.448000														65			19		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43508515	43508515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43508515C>T	uc002zag.1	+	4	715	c.715C>T	c.(715-717)Cct>Tct	p.P239S	UMODL1_uc002zad.1_Missense_Mutation_p.P167S|UMODL1_uc002zae.1_Missense_Mutation_p.P167S|UMODL1_uc002zaf.1_Missense_Mutation_p.P239S|UMODL1_uc010gow.1_Missense_Mutation_p.P31S|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Intron|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.P31S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	239						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCCACTGCCTGTGGCTGA	0.632000														63			20		0	0	1	0	0
COQ9	57017	broad.mit.edu	37	16	57490417	57490417	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57490417C>T	uc002elq.3	+	4	460	c.379_splice	c.e4-1	p.S127_splice	COQ9_uc010vhn.2_Splice_Site_p.S127_splice|COQ9_uc010vho.2_Splice_Site_p.S127_splice|COQ9_uc010vhp.2_Splice_Site_p.S127_splice|COQ9_uc002els.3_5'Flank	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	127					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						CTTTTGTAGTCTCTGGGTCTC	0.512000														150			29		0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99500663	99500663	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99500663A>G	uc002bul.3	+	20	4146	c.4096A>G	c.(4096-4098)Acc>Gcc	p.T1366A	IGF1R_uc010bon.3_Missense_Mutation_p.T1365A	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	1366					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGTCTTCGACCTGCTGATC	0.612000														126			34		0	0	1	0	0
FAM86FP	653113	broad.mit.edu	37	12	8387040	8387040	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8387040G>A	uc010sgk.2	-	3		c.416C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		AAAGCTTCAGGTTACTGAAAG	0.577000														59			13		0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65249188	65249188	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65249188G>A	uc001xht.3	-	18	4137	c.4086C>T	c.(4084-4086)gaC>gaT	p.D1362D	SPTB_uc001xhr.3_Silent_p.D1362D|SPTB_uc001xhs.3_Silent_p.D1362D|SPTB_uc001xhu.3_Silent_p.D1362D|SPTB_uc010aqi.3_Silent_p.D23D	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1362					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGCAGCTCGTCCCAGAGCC	0.597000														327			67		0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135095513	135095513	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135095513G>A	uc004ezk.3	+	8	1229	c.1153G>A	c.(1153-1155)Gtt>Att	p.V385I	SLC9A6_uc011mvx.2_Missense_Mutation_p.V333I|SLC9A6_uc004ezj.3_Missense_Mutation_p.V353I	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	353					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.L384F(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TATAGGTGTAGTTGCAGTATT	0.363000														88			25		0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35708471	35708471	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35708471A>G	uc003zxt.2	-	33	4691	c.4337T>C	c.(4336-4338)cTg>cCg	p.L1446P		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	1446	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GACACCAACCAGATATGCAGC	0.522000														110			23		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179485295	179485295	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179485295G>A	uc021vsy.1	-	196	38474	c.38249C>T	c.(38248-38250)tCt>tTt	p.S12750F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S6445F|TTN_uc021vta.1_Missense_Mutation_p.S6378F|TTN_uc021vtb.1_Missense_Mutation_p.S6253F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13677							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)			GAATGTGACAGATTTCTTCTC	0.358000														75			25		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196800998	196800998	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:196800998C>A	uc001gtn.3	+	5	976	c.862C>A	c.(862-864)Ctt>Att	p.L288I	CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Missense_Mutation_p.L192I	NM_002113	NP_002104	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 1 (CFHR1), mRNA.	288	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						CAAACAGAAGCTTTATTTGAG	0.368000														56			35		2.87052e-16	3.42015e-16	1	1	0
ALPK1	80216	broad.mit.edu	37	4	113303625	113303625	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113303625A>G	uc003ian.4	+	3	420	c.193A>G	c.(193-195)Aag>Gag	p.K65E	ALPK1_uc003iam.3_Missense_Mutation_p.K65E|ALPK1_uc011cfw.1_Non-coding_Transcript|ALPK1_uc003iap.4_Missense_Mutation_p.K65E|ALPK1_uc011cfx.2_Intron|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_5'UTR	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	65							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGCCTGAAAAGTGGCAGTA	0.522000														93			13		0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134154631	134154631	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134154631A>G	uc003kzw.3	+	20	3079	c.2911A>G	c.(2911-2913)Acc>Gcc	p.T971A		NM_014829	NP_055644	Q7L014	DDX46_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 (DDX46), mRNA.	971					RNA splicing|mRNA processing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATCAGAGGAACCTACTTCCC	0.418000														62			19		0	0	1	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24515440	24515440	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:24515440C>T	uc003nef.3	+	5	839	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	ALDH5A1_uc003neg.3_Missense_Mutation_p.P258S	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	258					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CAATGTTATTCCCTGTTCTCG	0.403000														148			29		0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875790	75875790	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:75875790G>A	uc001sxs.3	+	1	499	c.351G>A	c.(349-351)tgG>tgA	p.W117*	GLIPR1_uc009zsb.1_Nonsense_Mutation_p.W117*	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	117					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						TCACAAACTGGTATGACGAAA	0.468000														142			35		0	0	1	0	0
TTLL13	440307	broad.mit.edu	37	15	90800938	90800938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90800938G>A	uc002bpd.1	+	7	1207	c.919G>A	c.(919-921)Gct>Act	p.A307T	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	307	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CCGGGATGGCGCTGTGGGCAG	0.527000														110			19		0	0	1	0	0
LRRC59	55379	broad.mit.edu	37	17	48474609	48474609	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48474609G>T	uc002iqt.3	-	0	306	c.70C>A	c.(70-72)Ctc>Atc	p.L24I		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA.	24						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGTCGCTGAGGCTCAGGTCC	0.697000											OREG0024565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		168			44		6.21074e-16	7.38052e-16	1	1	0
MAST3	23031	broad.mit.edu	37	19	18239701	18239701	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18239701G>A	uc002nhz.4	+	11	1076	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	359							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGCCAGTCACGGAGGAAGCCA	0.597000														133			33		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77416926	77416926	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77416926C>T	uc004ajl.1	-	15	2135	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	TRPM6_uc004ajk.1_Missense_Mutation_p.E628K|TRPM6_uc022bib.1_Missense_Mutation_p.E628K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	633					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACCGTGGCCTCCTCTCCATGC	0.502000														83			11		0	0	1	0	0
WNT2B	7482	broad.mit.edu	37	1	113059807	113059807	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113059807G>A	uc001ecb.3	+	3	1261	c.746G>A	c.(745-747)cGc>cAc	p.R249H	WNT2B_uc001eca.3_Missense_Mutation_p.R230H|WNT2B_uc009wgg.3_Missense_Mutation_p.R157H	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	249					Wnt receptor signaling pathway, calcium modulating pathway|chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTGCGCACCTGCTGG	0.607000														150			29		0	0	1	0	0
GNAO1	2775	broad.mit.edu	37	16	56385326	56385326	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56385326G>A	uc002eiu.4	+	6	1651	c.754G>A	c.(754-756)Gac>Aac	p.D252N		NM_020988	NP_066268	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA.	252					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity	p.D252N(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				CATGCTCTTCGACTCCATCTG	0.507000														83			12		0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9988167	9988167	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9988167G>A	uc003bul.2	-	3	2820	c.2690C>T	c.(2689-2691)gCt>gTt	p.A897V	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	897						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGAAGCCGCAGCGGCTGCCCC	0.692000														22			3		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32190387	32190387	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32190387G>A	uc003obb.3	-	2	491	c.352C>T	c.(352-354)Ctt>Ttt	p.L118F	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.L118F	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	118	EGF-like 3.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTCTTCAAGCTTGGCCTGG	0.627000														176			37		0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26301077	26301077	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26301077C>A	uc001bld.4	-	8	1003	c.823G>T	c.(823-825)Gga>Tga	p.G275*	PAFAH2_uc001ble.4_Nonsense_Mutation_p.G275*	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	275					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)		AACACAGGTCCTCGGGCCTTG	0.468000														85			5		0.000602214	0.000618135	1	1	0
ZBTB11	27107	broad.mit.edu	37	3	101373562	101373562	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101373562G>T	uc003dve.4	-	7	2525	c.2295C>A	c.(2293-2295)ggC>ggA	p.G765G		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	765					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TACAATGATAGCCTCGAACCT	0.353000														112			28		5.45727e-16	6.48868e-16	1	1	0
PLEC	5339	broad.mit.edu	37	8	145004326	145004326	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145004326C>A	uc003zaf.1	-	20	3179	c.3009G>T	c.(3007-3009)caG>caT	p.Q1003H	PLEC_uc003zab.1_Missense_Mutation_p.Q866H|PLEC_uc003zac.1_Missense_Mutation_p.Q870H|PLEC_uc003zad.2_Missense_Mutation_p.Q866H|PLEC_uc003zae.1_Missense_Mutation_p.Q834H|PLEC_uc003zag.1_Missense_Mutation_p.Q844H|PLEC_uc003zah.2_Missense_Mutation_p.Q852H|PLEC_uc003zaj.2_Missense_Mutation_p.Q893H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1003	Globular 1.		Missing (in MD-EBS).		cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGACGGCCTCCTGGGCCTCCT	0.726000														18			10		2.17888e-05	2.28139e-05	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1264986	1264986	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1264986C>A	uc001lta.3	+	30	6935	c.6876C>A	c.(6874-6876)cgC>cgA	p.R2292R		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2292	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAAGACCCGCACCTCGACCC	0.682000														580			38		3.61848e-18	4.36538e-18	1	1	0
C11orf94	143678	broad.mit.edu	37	11	45928146	45928146	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45928146C>T	uc001nbs.4	-	2	308	c.271G>A	c.(271-273)Gag>Aag	p.E91K		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	91						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						TAGTAATACTCGGCAAGGTCG	0.607000														215			43		0	0	1	0	0
ZNF672	79894	broad.mit.edu	37	1	249142226	249142226	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:249142226C>T	uc001iex.3	+	3	1448	c.753C>T	c.(751-753)ggC>ggT	p.G251G	ZNF672_uc021pme.1_Silent_p.G251G	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CACACACGGGCGAGAAGCCGT	0.672000														20			4		0	0	1	0	0
ARL10	285598	broad.mit.edu	37	5	175798762	175798762	+	Missense_Mutation	SNP	G	A	A	rs148633924	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:175798762G>A	uc003mec.1	+	3	664	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_173664	NP_775935	Q8N8L6	ARL10_HUMAN	Homo sapiens ADP-ribosylation factor-like 10 (ARL10), mRNA.	200							GTP binding	p.Q199Q(1)		endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GAGCTGCAGCGGGAGCTGGGT	0.587000														183			68		0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47194999	47194999	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47194999G>T	uc002pfh.3	-	12	2037	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	PRKD2_uc010eks.3_5'Flank|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Silent_p.V408V|PRKD2_uc002pfi.3_Silent_p.V565V|PRKD2_uc002pfj.3_Silent_p.V565V|PRKD2_uc010xye.2_Silent_p.V565V|PRKD2_uc002pfk.3_Silent_p.V408V	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	565	Protein kinase.				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CACCTCCATAGACCACTCCAA	0.587000														141			28		1.30897e-18	1.58338e-18	1	1	0
EPAS1	2034	broad.mit.edu	37	2	46605830	46605830	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46605830A>G	uc002ruv.3	+	10	1988	c.1478A>G	c.(1477-1479)gAt>gGt	p.D493G	EPAS1_uc002ruw.3_5'Flank	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	493					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACATCTTTGGATAACGACCTG	0.517000														157			8		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941505	232941505	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:232941505C>A	uc001hvh.2	+	0	868	c.736C>A	c.(736-738)Ctg>Atg	p.L246M		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	104										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GCCTGCTACCCTGCACTGCCG	0.741000														71			14		4.14922e-12	4.76557e-12	1	1	0
SLC36A4	120103	broad.mit.edu	37	11	92901261	92901261	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92901261C>T	uc001pdn.3	-	6	714	c.617G>A	c.(616-618)aGt>aAt	p.S206N	SLC36A4_uc001pdm.3_Missense_Mutation_p.S71N	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	206					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGGTCAACACTTCTTCTCTC	0.343000														50			9		0	0	1	0	0
SKP1	6500	broad.mit.edu	37	5	133496781	133496781	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133496781G>A	uc003kzc.4	-	3	391	c.212C>T	c.(211-213)cCt>cTt	p.P71L	SKP1_uc003kzd.4_Missense_Mutation_p.P71L	NM_170679	NP_733779	P63208	SKP1_HUMAN	Homo sapiens S-phase kinase-associated protein 1 (SKP1), transcript variant 2, mRNA.	71					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleoplasm	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCTTCAGGAGGAGGAGGGTC	0.443000														41			13		0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145740380	145740380	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145740380G>A	uc003zdj.3	-	8	1602	c.1560C>T	c.(1558-1560)agC>agT	p.S520S	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	520	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCTGCGCCGGCTGTAGAGCA	0.652000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome					37			13		0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159821708	159821708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159821708G>A	uc003lye.1	-	1	1254	c.790C>T	c.(790-792)Cct>Tct	p.P264S	C5orf54_uc003lyf.1_Missense_Mutation_p.P264S|C5orf54_uc021yhc.1_Missense_Mutation_p.P264S	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	Homo sapiens chromosome 5 open reading frame 54 (C5orf54), mRNA.	264										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						acgatatgaggtatctctttt	0.408000														138			32		0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984832	85984832	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:85984832G>A	uc010qmc.2	-	1	157	c.149C>T	c.(148-150)cCt>cTt	p.P50L	LRIT2_uc001kcy.3_Missense_Mutation_p.P50L	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAGGTTCCCAGGGATCTTTCC	0.453000														135			18		0	0	1	0	0
ARSB	411	broad.mit.edu	37	5	78260339	78260339	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78260339C>T	uc003kfq.3	-	2	1876	c.590G>A	c.(589-591)cGa>cAa	p.R197Q	ARSB_uc003kfr.4_Missense_Mutation_p.R197Q	NM_000046	NP_000037	P15848	ARSB_HUMAN	Homo sapiens arylsulfatase B (ARSB), transcript variant 1, mRNA.	197					lysosomal transport|lysosome organization	lysosome	N-acetylgalactosamine-4-sulfatase activity|arylsulfatase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTCGCCATCTCGAAAATCAAG	0.393000														65			17		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100479236	100479236	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100479236G>A	uc003huy.3	-	2	631	c.318C>T	c.(316-318)gaC>gaT	p.D106D	RG9MTD2_uc003huz.4_Silent_p.D106D|RG9MTD2_uc003hva.4_Silent_p.D106D	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	106							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		CAAAACTACAGTCAATAATAA	0.343000														38			5		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124415935	124415935	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124415935C>A	uc001uft.4	+	72	12503	c.12478C>A	c.(12478-12480)Ctc>Atc	p.L4160I	DNAH10_uc001ufu.4_Missense_Mutation_p.L73I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4160					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTGTTTGGTCTCCACCCCAA	0.577000														95			23		7.87624e-14	9.21814e-14	1	1	0
SLC18A2	6571	broad.mit.edu	37	10	119003809	119003809	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119003809G>A	uc001ldd.2	+	2	612	c.449G>A	c.(448-450)gGa>gAa	p.G150E	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	150					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTTTCATAGGACTACTGACC	0.448000														46			13		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72371289	72371289	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371289C>T	uc002sih.1	-	1	258	c.258G>A	c.(256-258)acG>acA	p.T86T	CYP26B1_uc010yra.1_Silent_p.T69T|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	86					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CCAACAAATGCGTCTTGAACA	0.637000														243			52		0	0	1	0	0
ZNF530	348327	broad.mit.edu	37	19	58117676	58117676	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58117676C>T	uc002qpk.2	+	2	1003	c.783C>T	c.(781-783)caC>caT	p.H261H	ZNF530_uc002qpl.3_Non-coding_Transcript|ZNF530_uc021vcm.1_5'Flank	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN	Homo sapiens zinc finger protein 530 (ZNF530), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGAAAGCACACGGTAGAACAA	0.438000														103			24		0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68271970	68271970	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:68271970T>C	uc001xka.2	-	7	1374	c.1235A>G	c.(1234-1236)cAc>cGc	p.H412R	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.H412R|ZFYVE26_uc010tta.2_Missense_Mutation_p.H412R	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	412					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GACCTCCAGGTGAGCCCACAA	0.602000														61			6		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6541262	6541262	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6541262T>C	uc001mdw.4	+	8	2279	c.1715T>C	c.(1714-1716)gTg>gCg	p.V572A	DNHD1_uc001mdp.3_Missense_Mutation_p.V572A|DNHD1_uc001mdq.3_Missense_Mutation_p.V261A	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	572					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCTCATGTGCCCTGTGTT	0.493000														188			31		0	0	1	0	0
EFNB1	1947	broad.mit.edu	37	X	68060137	68060137	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68060137C>T	uc004dxe.2	+	4	1461	c.681C>T	c.(679-681)agC>agT	p.S227S	EFNB1_uc004dxd.4_Silent_p.S227S	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	227					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GGGGCAGCAGCGGGGACCCTG	0.597000														55			16		0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16641844	16641844	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16641844C>T	uc001ayg.3	-	1	286	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	FBXO42_uc001ayf.3_5'UTR|FBXO42_uc001ayh.3_Missense_Mutation_p.G24R	NM_018994	NP_061867	Q6P3S6	FBX42_HUMAN	Homo sapiens F-box protein 42 (FBXO42), mRNA.	24										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TCCATTGTCCCTTCCAGCACA	0.498000														80			8		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183962463	183962463	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183962463A>G	uc003fne.2	-	4	683	c.652T>C	c.(652-654)Tta>Cta	p.L218L	ALG3_uc011brc.1_Silent_p.L183L|ALG3_uc011brd.1_Silent_p.L162L|ALG3_uc011bre.1_Silent_p.L170L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	218					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGAAACAGTAACCCAGGGGCG	0.587000														39			12		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884791	13884791	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:13884791T>C	uc002ksp.1	-	1	904	c.727A>G	c.(727-729)Aca>Gca	p.T243A	MC2R_uc021uhs.1_Missense_Mutation_p.T243A	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	243					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	GGGCAGAATGTCATCAAGAGG	0.532000														113			22		0	0	1	0	0
IL33	90865	broad.mit.edu	37	9	6241745	6241745	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:6241745G>A	uc003zjt.3	+	1	129	c.51G>A	c.(49-51)tgG>tgA	p.W17*	IL33_uc011lmg.2_Nonsense_Mutation_p.W17*|IL33_uc011lmh.2_Nonsense_Mutation_p.W17*|IL33_uc022bdf.1_Nonsense_Mutation_p.W17*	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	17					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CAGCAAAGTGGAAGAACACAG	0.313000														33			3		0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46206618	46206618	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46206618G>A	uc001cou.3	-	2	946	c.679C>T	c.(679-681)Cga>Tga	p.R227*	IPP_uc001cos.4_Nonsense_Mutation_p.R227*	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	227						actin cytoskeleton|cytoplasm	actin binding	p.R227*(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					AAAGGGAATCGAATTGGGTCT	0.353000														77			15		0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50408810	50408810	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:50408810G>A	uc002xwh.4	-	1	313	c.212C>T	c.(211-213)aCg>aTg	p.T71M	SALL4_uc010gii.3_Missense_Mutation_p.T71M|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	71					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACAGACGTGCGTCTCCTCCCG	0.488000														128			38		0	0	1	0	0
SNRNP48	154007	broad.mit.edu	37	6	7606277	7606277	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7606277C>T	uc003mxr.3	+	7	879	c.820C>T	c.(820-822)Cga>Tga	p.R274*	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_Nonsense_Mutation_p.R26*	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	274					mRNA processing	U12-type spliceosomal complex|cytoplasm	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGAAGAAAGGCGATCAGCTTC	0.413000														98			17		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23548955	23548955	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23548955G>A	uc002wtk.4	-	0	432	c.133C>T	c.(133-135)Cgt>Tgt	p.R45C		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	45						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGGAGGTAACGAGCCATGACA	0.522000														90			16		0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148575447	148575447	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:148575447T>G	uc003ilc.3	-	8	1743	c.1601A>C	c.(1600-1602)cAt>cCt	p.H534P	PRMT10_uc003ilb.3_Missense_Mutation_p.H178P|PRMT10_uc003ild.3_Missense_Mutation_p.H421P	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	534						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAAGCCTTCATGATATGGGAT	0.413000														136			35		0	0	1	0	0
PHLPP1	23239	broad.mit.edu	37	18	60645587	60645587	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:60645587C>T	uc021ule.1	+	16	4322	c.4077C>T	c.(4075-4077)tcC>tcT	p.S1359S		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1359	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ACGTGCAGTCCGTGCTCCTGA	0.622000														36			8		0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49938140	49938140	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49938140C>A	uc002pnp.3	-	4	607	c.435_splice	c.e4-1	p.R145_splice	SLC17A7_uc002pnq.1_Splice_Site_p.R78_splice|SLC17A7_uc002pno.3_5'Flank	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	145					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GCCGAAAACTCTGATGGGAAG	0.562000														37			7		0.0293803	0.0295844	1	1	0
LLGL1	3996	broad.mit.edu	37	17	18144854	18144854	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18144854G>A	uc002gsp.3	+	17	2653	c.2592G>A	c.(2590-2592)acG>acA	p.T864T		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	864					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					CACTGGCCACGTTTGCCAGTG	0.642000														79			25		0	0	1	0	0
MAP1LC3A	84557	broad.mit.edu	37	20	33147545	33147545	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33147545G>A	uc002xaq.1	+	3	363	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAP1LC3A_uc002xap.1_Missense_Mutation_p.R74H	NM_032514	NP_115903	Q9H492	MLP3A_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 alpha (MAP1LC3A), transcript variant 1, mRNA.	70					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						TGCAGGCGCCGCCTGCAGCTG	0.627000														234			50		0	0	1	0	0
C10orf76	79591	broad.mit.edu	37	10	103766356	103766356	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103766356A>G	uc009xwy.1	-	13	1091	c.989T>C	c.(988-990)gTc>gCc	p.V330A		NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	330						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AGCAGGACTGACAGGGGTCGT	0.483000														172			38		0	0	1	0	0
HNRNPH3	3189	broad.mit.edu	37	10	70101600	70101600	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70101600G>A	uc001jnw.4	+	8	1185	c.956G>A	c.(955-957)gGt>gAt	p.G319D	RUFY2_uc001jnz.1_Intron|HNRNPH3_uc001jnx.4_Missense_Mutation_p.G304D|HNRNPH3_uc009xpu.3_Missense_Mutation_p.G188D|HNRNPH3_uc010qiv.2_Missense_Mutation_p.G211D|HNRNPH3_uc001jny.4_Missense_Mutation_p.G270D	NM_012207	NP_036339	P31942	HNRH3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.	319	Gly-rich.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						GATGGTTTGGGTGGTTATGGT	0.363000														102			20		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477406	6477406	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477406C>T	uc001mdh.3	-	8	1826	c.1430_splice	c.e8-1	p.G477_splice	TRIM3_uc001mdi.3_Splice_Site_p.G477_splice|TRIM3_uc010raj.2_Splice_Site_p.G358_splice|TRIM3_uc009yfd.3_Splice_Site_p.G477_splice|TRIM3_uc010rak.1_Splice_Site_p.G477_splice	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	477					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACGACTGCCTGTGGGAAGG	0.537000														155			22		0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54442668	54442668	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54442668T>C	uc003jpo.2	-	2	320	c.143A>G	c.(142-144)aAt>aGt	p.N48S	CDC20B_uc003jpn.2_Missense_Mutation_p.N48S|CDC20B_uc010ivu.2_Missense_Mutation_p.N48S|CDC20B_uc010ivv.2_Missense_Mutation_p.N48S|CDC20B_uc003jpp.3_Non-coding_Transcript	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	48										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATACGTAGCATTAACTGAATC	0.428000											OREG0016610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		81			13		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40885655	40885655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40885655C>T	uc002onp.3	-	3	1975	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	564						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTGCTGGGGTCGAAGAGCTCA	0.637000														46			5		0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45148815	45148815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45148815G>A	uc011kcd.2	-	1	104	c.55C>T	c.(55-57)Cga>Tga	p.R19*	TBRG4_uc003tmu.3_5'Flank|TBRG4_uc003tmv.3_Nonsense_Mutation_p.R8*|TBRG4_uc003tmw.3_Nonsense_Mutation_p.R8*|TBRG4_uc003tmx.3_Nonsense_Mutation_p.R8*	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	8					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CACGTGCATCGCTTTACCAGG	0.557000														129			11		0	0	1	0	0
SAMHD1	25939	broad.mit.edu	37	20	35563508	35563508	+	Nonsense_Mutation	SNP	G	A	A	rs121434517		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35563508G>A	uc002xgh.2	-	3	633	c.433C>T	c.(433-435)Cga>Tga	p.R145*		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	145			R -> Q (in AGS5).		defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	p.R145Q(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TTGATGTATCGAAGACGTTGA	0.433000														92			25		0	0	1	0	0
C10orf120	399814	broad.mit.edu	37	10	124457595	124457595	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124457595T>A	uc001lgn.3	-	2	694	c.662A>T	c.(661-663)gAt>gTt	p.D221V		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	221										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTTGGCATCATCACAATTATG	0.403000														55			16		0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606577	55606577	+	Missense_Mutation	SNP	T	G	G	rs146679837		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55606577T>G	uc010rio.2	+	0	350	c.350T>G	c.(349-351)tTt>tGt	p.F117C		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TTAATTCTATTTGCGGTGATG	0.433000														214			52		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483688	31483688	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483688A>C	uc002rnu.3	+	3	1423	c.815A>C	c.(814-816)gAg>gCg	p.E272A	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	272					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AAGCTCTTTGAGGCTGAGGAA	0.587000														231			13		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136573457	136573457	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136573457G>A	uc004cep.4	-	10	1556	c.1422C>T	c.(1420-1422)caC>caT	p.H474H	SARDH_uc004ceo.3_Silent_p.H474H|SARDH_uc011mdo.2_Silent_p.H306H|SARDH_uc011mdn.2_Silent_p.H474H	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	474					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGGCTCATCGTGGGGGAAGA	0.662000														220			25		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601726	13601726	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13601726G>A	uc003gmz.1	-	9	6915	c.6798C>T	c.(6796-6798)ggC>ggT	p.G2266G	BOD1L1_uc010idr.1_Silent_p.G1603G	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2266							DNA binding										TGGACACTGGGCCCTCACAGT	0.542000														48			12		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20215653	20215653	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20215653C>T	uc010tkt.2	+	0	67	c.67C>T	c.(67-69)Ctg>Ttg	p.L23L		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCTTGGGAGCTGCAGCTATT	0.383000														193			24		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47559715	47559715	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47559715A>C	uc003gxk.1	+	11	2023	c.1859A>C	c.(1858-1860)aAg>aCg	p.K620T	ATP10D_uc003gxl.1_Intron	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	620					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGCCCATTAAGTCTTTGGAA	0.423000														80			19		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454450	47454450	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454450G>A	uc003crf.1	+	24	4782	c.4686G>A	c.(4684-4686)ccG>ccA	p.P1562P	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.P1432P|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1562	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGAGGAGCCGCCAGTGCCTG	0.687000														52			6		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40776916	40776916	+	Silent	SNP	A	G	G	rs145033684		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:40776916A>G	uc003gvj.4	+	5	1269	c.774A>G	c.(772-774)aaA>aaG	p.K258K	NSUN7_uc003gvh.2_Silent_p.K258K|NSUN7_uc003gvi.4_Silent_p.K258K	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCATCTTAAAAATGATCTTA	0.284000														40			11		0	0	1	0	0
KCNS2	3788	broad.mit.edu	37	8	99440776	99440776	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99440776G>A	uc003yin.3	+	1	919	c.569G>A	c.(568-570)aGc>aAc	p.S190N	KCNS2_uc022azb.1_Missense_Mutation_p.S190N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	190						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGGGTCTTCAGCATCCTGTCC	0.617000														153			24		0	0	1	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941046	52941046	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52941046T>C	uc001cty.2	-	12	2438	c.2185A>G	c.(2185-2187)Aaa>Gaa	p.K729E	ZCCHC11_uc001ctx.2_Missense_Mutation_p.K729E|ZCCHC11_uc009vze.1_Missense_Mutation_p.K729E|ZCCHC11_uc009vzf.1_Missense_Mutation_p.K488E|ZCCHC11_uc001cub.3_Missense_Mutation_p.K729E	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	729					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding	p.G728W(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTGCTTATTTTCCCCTTCTCT	0.408000														153			39		0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78097537	78097537	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78097537T>G	uc001dhq.3	-	4	1979	c.1503A>C	c.(1501-1503)aaA>aaC	p.K501N	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.K501N|ZZZ3_uc001dhp.3_Missense_Mutation_p.K501N	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACACATACTCTTTGTTGTGTT	0.348000														71			20		0	0	1	0	0
ECHDC3	79746	broad.mit.edu	37	10	11805264	11805264	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:11805264C>T	uc001ikw.4	+	4	853	c.633C>T	c.(631-633)gcC>gcT	p.A211A	ECHDC3_uc009xix.3_Silent_p.A80A	NM_024693	NP_078969	Q96DC8	ECHD3_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 3 (ECHDC3), nuclear gene encoding mitochondrial protein, mRNA.	211						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						CCATTTCTGCCCAGGAGGCCC	0.637000														73			16		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10547728	10547728	+	Silent	SNP	C	T	T	rs141874357		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10547728C>T	uc002gmq.2	-	13	1438	c.1350G>A	c.(1348-1350)acG>acA	p.T450T		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	450	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTGGAAGCTTCGTATCCAGTT	0.383000														171			8		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77513682	77513682	+	Silent	SNP	C	T	T	rs112322343	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77513682C>T	uc002lnh.2	+	12	2925	c.2778C>T	c.(2776-2778)gaC>gaT	p.D926D	CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Silent_p.D807D	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	926					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		ATGAAGAGGACGCCGCCAGCG	0.627000														89			26		0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15729956	15729956	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15729956G>T	uc001ioc.1	-	2	425	c.425C>A	c.(424-426)gCt>gAt	p.A142D	ITGA8_uc010qcb.1_Missense_Mutation_p.A142D	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	142					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCCTTTGTGAGCTTTCACTGT	0.428000														124			29		3.11337e-16	3.70767e-16	1	1	0
PDILT	204474	broad.mit.edu	37	16	20384360	20384360	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20384360C>A	uc002dhc.1	-	5	989	c.766G>T	c.(766-768)Gat>Tat	p.D256Y		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	256					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						ATCACAAAATCTGTAAGGTGC	0.443000														174			47		2.64894e-19	3.21481e-19	1	1	0
LPPR1	54886	broad.mit.edu	37	9	104071653	104071653	+	Missense_Mutation	SNP	T	G	G	rs139319180		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104071653T>G	uc004bbb.3	+	4	945	c.546T>G	c.(544-546)tgT>tgG	p.C182W	LPPR1_uc011lvi.2_Missense_Mutation_p.C158W|LPPR1_uc004bbc.3_Missense_Mutation_p.C182W|LPPR1_uc010mtc.3_Missense_Mutation_p.C166W	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	182						integral to membrane	catalytic activity										GGAACATTTGTACTGGGGACC	0.507000														128			20		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96493196	96493196	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96493196G>A	uc001kjv.4	+	8	1617	c.1291_splice	c.e8+1	p.G431_splice	CYP2C19_uc001kjw.4_Splice_Site_p.G372_splice|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Splice_Site_p.Q34_splice	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	431					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	TTCTCAGCAGGTAATAGATAT	0.438000														117			35		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25141705	25141705	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25141705C>T	uc010ykm.2	-	0	351	c.152G>A	c.(151-153)cGc>cAc	p.R51H	ADCY3_uc002rfs.4_Missense_Mutation_p.R51H	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCGCATGAAGCGAGGCAGGCA	0.637000														153			10		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244978	233244978	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244978G>A	uc002vsq.3	+	5	905	c.740G>A	c.(739-741)gGg>gAg	p.G247E		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	247						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.G247V(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AGCCAAGGTGGGACCAGGCTG	0.627000														365			41		0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121437184	121437184	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121437184A>G	uc001tzg.3	+	7	1638	c.1615A>G	c.(1615-1617)Acc>Gcc	p.T539A	HNF1A_uc010szn.2_Missense_Mutation_p.T539A|HNF1A_uc021rfa.1_Missense_Mutation_p.T539A|HNF1A_uc021rfb.1_Missense_Mutation_p.T411A|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	539					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTCACGCCCACCAAGCAGGT	0.682000									Hepatic Adenoma, Familial Clustering of					291			53		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8957806	8957806	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8957806T>C	uc002qzc.2	-	3	430	c.248A>G	c.(247-249)cAt>cGt	p.H83R	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.H41R|KIDINS220_uc010yiw.1_Missense_Mutation_p.H83R	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	83					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GATGTGCACATGCCCTTCTTT	0.343000														153			34		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88763711	88763711	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88763711G>A	uc003pmn.3	+	1	373	c.256G>A	c.(256-258)Gtt>Att	p.V86I		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	86						integral to membrane		p.T85T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AATGTGCACCGTTACATGTGG	0.348000														35			8		0	0	1	0	0
APOA5	116519	broad.mit.edu	37	11	116661334	116661334	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:116661334C>T	uc009yzg.3	-	1	1121	c.689G>A	c.(688-690)cGc>cAc	p.R230H	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.R204H|APOA5_uc009yzf.3_Missense_Mutation_p.R204H			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	204					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CTGCACGTGGCGCCCGATGCC	0.701000														89			25		0	0	1	0	0
KCNJ5	3762	broad.mit.edu	37	11	128781835	128781835	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:128781835G>A	uc001qet.3	+	1	981	c.667G>A	c.(667-669)Gac>Aac	p.D223N	KCNJ5_uc009zck.3_Missense_Mutation_p.D223N|KCNJ5_uc001qew.3_Missense_Mutation_p.D223N	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	223					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)	CCGGGTGGGCGACCTCCGCAA	0.597000														211			38		0	0	1	0	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799769	119799769	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:119799769G>A	uc001ldj.2	-	1	1101	c.661C>T	c.(661-663)Cga>Tga	p.R221*	RAB11FIP2_uc009xyz.2_Nonsense_Mutation_p.R221*	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	221					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GACGAGAGTCGCTGAGGACCC	0.443000														202			43		0	0	1	0	0
RHBDD1	84236	broad.mit.edu	37	2	227771551	227771551	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:227771551A>G	uc021vxo.1	+	5	1133	c.609A>G	c.(607-609)ctA>ctG	p.L203L	RHBDD1_uc002voi.3_Silent_p.L203L|RHBDD1_uc010fxc.3_Silent_p.L203L|RHBDD1_uc002voj.3_5'UTR	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	203						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTGTTGGACTAATGTACACTC	0.448000														109			50		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1796824	1796824	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1796824C>T	uc002ltw.3	-	15	1873	c.1639G>A	c.(1639-1641)Gcg>Acg	p.A547T	ATP8B3_uc002ltv.3_Missense_Mutation_p.A500T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	547					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGGGCCGCATTGTGGAAG	0.706000														80			21		0	0	1	0	0
KDELR2	11014	broad.mit.edu	37	7	6523680	6523680	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6523680A>C	uc003sqe.4	-	0	170	c.9T>G	c.(7-9)atT>atG	p.I3M	DAGLB_uc003sqd.4_5'UTR|KDELR2_uc003sqf.4_Missense_Mutation_p.I3M	NM_006854	NP_006845	P33947	ERD22_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2 (KDELR2), transcript variant 1, mRNA.	3					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCAGCCGGAAAATGTTCATgg	0.726000														32			8		0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95728750	95728750	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95728750G>A	uc003kls.2	-	13	2456	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PCSK1_uc010jbi.2_Silent_p.D429D|PCSK1_uc021ybq.1_Silent_p.D692D	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	739	Amphipathic (Potential).				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAGCAGCCGGTCGTCTCTGT	0.403000														348			69		0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	432350	432350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:432350G>A	uc001qif.1	-	15	2536	c.2173C>T	c.(2173-2175)Ctc>Ttc	p.L725F	KDM5A_uc010sdn.1_Missense_Mutation_p.L684F	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	725					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						AGAGAAGGGAGGTCTTCTAAT	0.328000			T	NUP98	AML									39			13		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38496596	38496596	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38496596C>A	uc010ive.1	-	12	2105	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	LIFR_uc003jli.2_Missense_Mutation_p.Q591H	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	591	Fibronectin type-III 4.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTGCTTTGTGCTGAGGATCAG	0.408000			T	PLAG1	salivary adenoma									126			34		5.8336e-16	6.9331e-16	1	1	0
RABGEF1	27342	broad.mit.edu	37	7	66270342	66270342	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66270342C>T	uc003tvf.3	+	11	1871	c.655C>T	c.(655-657)Cga>Tga	p.R219*	RABGEF1_uc003tvg.3_Nonsense_Mutation_p.R154*|RABGEF1_uc003tvh.3_Nonsense_Mutation_p.R346*|RABGEF1_uc010lag.3_Nonsense_Mutation_p.R346*|RABGEF1_uc011kee.2_Nonsense_Mutation_p.R360*|RABGEF1_uc003tvi.3_Nonsense_Mutation_p.R180*	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	563	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCAAGCCGACTGATGAC	0.498000														145			13		0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78695823	78695823	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:78695823T>G	uc011ccd.2	-	2	306	c.175A>C	c.(175-177)Aca>Cca	p.T59P	CNOT6L_uc003hks.3_Missense_Mutation_p.T59P|CNOT6L_uc011cce.1_Missense_Mutation_p.T59P	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	59					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCAGCGCTGTCAAGTGTGTC	0.428000														50			8		0	0	1	0	0
G3BP2	9908	broad.mit.edu	37	4	76582860	76582860	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76582860G>A	uc003hir.3	-	3	397	c.232C>T	c.(232-234)Cgt>Tgt	p.R78C	G3BP2_uc003his.3_Missense_Mutation_p.R78C|G3BP2_uc003hit.3_Missense_Mutation_p.R78C	NM_012297	NP_987101	Q9UN86	G3BP2_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 2 (G3BP2), transcript variant 2, mRNA.	78	NTF2.				Ras protein signal transduction|cytoplasmic sequestering of NF-kappaB|mRNA transport|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|RNA binding|nucleotide binding|receptor signaling complex scaffold activity	p.R78C(4)		breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCCACATGACGAATTTTAGTA	0.393000														166			35		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074778	106074778	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106074778C>T	uc001kyf.3	-	2	1485	c.1032G>A	c.(1030-1032)atG>atA	p.M344I	ITPRIP_uc001kye.3_Missense_Mutation_p.M344I|ITPRIP_uc001kyg.3_Missense_Mutation_p.M344I|ITPRIP_uc021pxv.1_Missense_Mutation_p.M344I	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	344						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGTTGAAGGGCATGAACTTCC	0.592000														188			45		0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92280104	92280104	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92280104C>T	uc001xzu.4	-	1	201	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	TC2N_uc001xzt.4_Missense_Mutation_p.E4K|TC2N_uc010auc.3_Missense_Mutation_p.E4K|TC2N_uc001xzv.4_Missense_Mutation_p.E4K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	4						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTATAAATTCTGTTGCCATT	0.323000														27			5		0	0	1	0	0
ETV6	2120	broad.mit.edu	37	12	12022779	12022779	+	Silent	SNP	C	T	T	rs140005721	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12022779C>T	uc001qzz.3	+	4	1159	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ETV6_uc001raa.1_Silent_p.D88D	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	295						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTCCGAGGACGGGCTGCATA	0.592000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									222			32		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140595716	140595716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140595716C>T	uc003lja.1	+	0	2208	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	674					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCCTCTCCCGGAGGCGGCC	0.682000														535			50		0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113242307	113242307	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113242307G>A	uc001eck.3	+	18	2854	c.2584_splice	c.e18-1	p.V862_splice	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Splice_Site_p.V862_splice|MOV10_uc001ecm.3_Splice_Site_p.V802_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	862					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	p.V862L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TCCCCACTAGGTGGGTTCAGT	0.567000														169			23		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30695464	30695464	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:30695464C>A	uc003xil.3	-	2	7187	c.7187G>T	c.(7186-7188)gGc>gTc	p.G2396V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2396										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAAAGTGAGCCAGGTAGTGA	0.388000														194			47		2.24722e-20	2.74335e-20	1	1	0
SVIL	6840	broad.mit.edu	37	10	29754582	29754582	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29754582G>T	uc001iut.1	-	33	6828	c.6075C>A	c.(6073-6075)ccC>ccA	p.P2025P	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Silent_p.P939P|SVIL_uc001iuu.1_Silent_p.P1599P	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2025					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGACCACAGAGGGGGCTCGGG	0.587000														102			16		4.14922e-12	4.76557e-12	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152457923	152457923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152457923C>T	uc021zhb.1	-	138	25712	c.25489G>A	c.(25489-25491)Gcc>Acc	p.A8497T	SYNE1_uc003qos.4_Missense_Mutation_p.A3021T|SYNE1_uc003qot.4_Missense_Mutation_p.A8449T|SYNE1_uc003qou.4_Missense_Mutation_p.A8497T|SYNE1_uc011eez.2_Missense_Mutation_p.A699T|SYNE1_uc003qoq.4_Missense_Mutation_p.A699T|SYNE1_uc003qor.4_Missense_Mutation_p.A1420T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8497					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGGATGATGGCTTTGCGGTGG	0.483000										HNSCC(10;0.0054)				155			29		0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101587499	101587499	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101587499A>G	uc010yvt.1	+	11	1300	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	NPAS2_uc002tap.1_Missense_Mutation_p.D368G	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	368					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCTGGAAGACCCGCCATCC	0.557000														111			41		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933776	31933776	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31933776C>T	uc003nyn.1	+	17	2577	c.2188C>T	c.(2188-2190)Cac>Tac	p.H730Y	SKIV2L_uc011dou.1_Missense_Mutation_p.H572Y|SKIV2L_uc011dov.1_Missense_Mutation_p.H537Y	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	730	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GGCAGACCTGCACCGCATGAT	0.622000														61			12		0	0	1	0	0
FOXD3	27022	broad.mit.edu	37	1	63789347	63789347	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63789347G>A	uc001dax.2	+	0	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_012183	NP_036315	Q9UJU5	FOXD3_HUMAN	Homo sapiens forkhead box D3 (FOXD3), mRNA.	206					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	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			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						CCCGCGAGCCGGGCAACCCGG	0.637000														286			83		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133402688	133402688	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:133402688A>G	uc002ttl.3	+	1	1340	c.871A>G	c.(871-873)Aca>Gca	p.T291A	LYPD1_uc002ttm.4_3'UTR|LYPD1_uc002ttn.3_3'UTR|LYPD1_uc002tto.3_3'UTR	NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	291						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATTGTTGTGACATTGGCCGT	0.493000														133			6		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39802571	39802571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:39802571G>A	uc002xjp.1	+	29	3686	c.3565G>A	c.(3565-3567)Gca>Aca	p.A1189T	PLCG1_uc002xjo.1_Missense_Mutation_p.A1189T|PLCG1_uc010zwe.1_Missense_Mutation_p.A854T	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1189					T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGGATACAGAGCAGTGCCTTT	0.587000														179			36		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89865049	89865049	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89865049G>A	uc002bns.4	-	15	2798	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	POLG_uc002bnr.4_Missense_Mutation_p.A839V	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	839					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGGCAGGATGGCCCCATAGAG	0.622000								DNA polymerases (catalytic subunits)						139			27		0	0	1	0	0
WFDC1	58189	broad.mit.edu	37	16	84353108	84353108	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84353108C>T	uc002fhv.3	+	3	670	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	WFDC1_uc002fhw.3_Silent_p.L165L	NM_021197	NP_067020	Q9HC57	WFDC1_HUMAN	Homo sapiens WAP four-disulfide core domain 1 (WFDC1), mRNA.	165					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						GTGCCACATCCTGAGCCCAGG	0.667000														154			19		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118501532	118501532	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118501532G>T	uc010oxe.1	+	26	2649	c.2583_splice	c.e26-1	p.R861_splice	WDR3_uc001ehi.2_Intron|SPAG17_uc001ehk.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	861						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTTTCTATCAGGATTCACTTT	0.383000														62			4		0.150653	0.151008	1	1	0
ZAR1	326340	broad.mit.edu	37	4	48496233	48496233	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48496233G>T	uc003gyd.3	+	3	1247	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	416					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity	p.D415N(1)		endometrium(1)|large_intestine(4)	5						TCCTGTGACAGCACTTTCAGC	0.512000														140			13		2.27111e-07	2.44751e-07	1	1	0
RHBDF1	64285	broad.mit.edu	37	16	112988	112988	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:112988C>T	uc002cfl.4	-	4	798	c.655G>A	c.(655-657)Gcc>Acc	p.A219T	RHBDF1_uc010uty.2_Missense_Mutation_p.A242T|RHBDF1_uc010utz.2_Missense_Mutation_p.A219T|RHBDF1_uc010bqo.1_Non-coding_Transcript	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	219					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				AGCGCTGCGGCCGCCCGGAAG	0.701000														75			26		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230820883	230820883	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230820883G>A	uc001htw.3	+	11	1432	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	COG2_uc001htx.3_Silent_p.R427R|COG2_uc010pwc.2_Silent_p.R300R	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	427					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GCAGCCTTAGGAGGTGTTGGT	0.438000														169			45		0	0	1	0	0
GPR137	56834	broad.mit.edu	37	11	64054213	64054213	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64054213C>T	uc010rni.2	+	2	419	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	BAD_uc001nzd.3_5'Flank|BAD_uc001nzc.3_5'Flank|BAD_uc009ypk.2_5'Flank|GPR137_uc010rnj.2_Missense_Mutation_p.R73C|GPR137_uc001nze.2_Missense_Mutation_p.R73C|GPR137_uc001nzf.3_Missense_Mutation_p.R73C|GPR137_uc001nzh.2_Missense_Mutation_p.R73C|GPR137_uc001nzi.3_Missense_Mutation_p.R73C|GPR137_uc021qkt.1_Missense_Mutation_p.R73C	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	73						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						GGCCGCCTTGCGTACCACCCT	0.622000														520			101		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78973444	78973444	+	Missense_Mutation	SNP	G	A	A	rs141281372	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78973444G>A	uc004akc.2	+	36	5727	c.5189G>A	c.(5188-5190)cGa>cAa	p.R1730Q		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	0					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						TGCATCCTTCGAACAAGCAAG	0.458000														67			18		0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283813	159283813	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159283813C>T	uc010piu.2	-	0	637	c.637G>A	c.(637-639)Ggc>Agc	p.G213S		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGACCAGGCCCATAGGTAGA	0.502000														179			35		0	0	1	0	0
ESYT3	83850	broad.mit.edu	37	3	138192394	138192394	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:138192394C>T	uc003esk.3	+	18	2480	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	752						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GGACCTCAGGCGACGGCAGCT	0.557000														231			46		0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93695422	93695422	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93695422G>A	uc001khr.3	+	1	121	c.23G>A	c.(22-24)cGc>cAc	p.R8H	BTAF1_uc009xua.1_Non-coding_Transcript	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	8					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.R8H(2)|p.R8R(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				AGGCTAGATCGCCTTTTTATT	0.378000														57			18		0	0	1	0	0
GFER	2671	broad.mit.edu	37	16	2035947	2035947	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2035947G>A	uc002cob.3	+	2	606	c.536G>A	c.(535-537)cGc>cAc	p.R179H	TCRBV20S1_uc021tak.1_Intron|GFER_uc002coc.3_Missense_Mutation_p.R104H	NM_005262	NP_005253	P55789	ALR_HUMAN	Homo sapiens growth factor, augmenter of liver regeneration (GFER), mRNA.	179	ERV/ALR sulfhydryl oxidase.				cell proliferation|spermatogenesis	extracellular region|mitochondrial intermembrane space	growth factor activity|thiol oxidase activity			endometrium(1)|large_intestine(1)|lung(3)	5						GAAGTGAACCGCAAGCTGGGC	0.607000														276			31		0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135203375	135203375	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135203375T>G	uc004cbk.3	-	9	3793	c.3610A>C	c.(3610-3612)Agg>Cgg	p.R1204R	SETX_uc004cbj.3_Silent_p.R823R|SETX_uc010mzt.3_Silent_p.R823R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1204					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGAAGTCCTTCTATCAATA	0.403000														116			21		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115652	47115652	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115652G>A	uc002iom.3	+	5	858	c.524G>A	c.(523-525)gGt>gAt	p.G175D	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	175					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCTCTCGGGGTCAGCCCCGC	0.652000														133			37		0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114321980	114321980	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114321980G>T	uc010tkf.2	+	0	384	c.279G>T	c.(277-279)gaG>gaT	p.E93D		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	93	N-terminal.|RGS.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGACATCGAGGACTATGACA	0.587000														126			14		7.93312e-07	8.47869e-07	1	1	0
BAI2	576	broad.mit.edu	37	1	32221720	32221720	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32221720C>A	uc001btn.3	-	3	1072	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	BAI2_uc010ogp.2_Missense_Mutation_p.G228C|BAI2_uc010ogq.2_Missense_Mutation_p.G240C|BAI2_uc001bto.3_Missense_Mutation_p.G240C|BAI2_uc001btq.1_Missense_Mutation_p.G228C|BAI2_uc010ogr.1_Missense_Mutation_p.G228C	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	240					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GCAGGAGGGCCTGGAGATGTG	0.701000														174			13		0.0135373	0.0136973	1	1	0
MAN1A2	10905	broad.mit.edu	37	1	117945040	117945040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117945040G>A	uc001ehd.1	+	1	1256	c.535G>A	c.(535-537)Gag>Aag	p.E179K	MAN1A2_uc009whg.1_Intron	NM_006699	NP_006690	O60476	MA1A2_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA.	179					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGACATAAGAGAGAAAAGGGA	0.358000														73			11		0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8113379	8113379	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:8113379A>C	uc002wnb.3	+	0	84	c.81A>C	c.(79-81)aaA>aaC	p.K27N	PLCB1_uc010zrb.1_Intron|PLCB1_uc010gbv.1_Missense_Mutation_p.K27N|PLCB1_uc002wmz.1_Missense_Mutation_p.K27N|PLCB1_uc002wna.3_Missense_Mutation_p.K27N	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	27				MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613).	CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGGGCACCAAATTCGTCAAGT	0.682000														58			15		0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47454517	47454517	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47454517C>A	uc003crf.1	+	24	4849	c.4753C>A	c.(4753-4755)Cca>Aca	p.P1585T	PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Missense_Mutation_p.P1455T|BC067356_uc003cri.3_5'Flank	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	1585					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCTTGACCCCAGAGGCCTT	0.662000														72			19		2.37509e-13	2.76693e-13	1	1	0
DPRX	503834	broad.mit.edu	37	19	54137909	54137909	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54137909G>A	uc002qcf.1	+	1	204	c.153G>A	c.(151-153)tcG>tcA	p.S51S		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	51						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AAATGGCCTCGAAAATAGACA	0.433000														133			19		0	0	1	0	0
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138711299G>A	uc003vum.1	-	4	906	c.894C>T	c.(892-894)tgC>tgT	p.C298C		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	298										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TTTACTTCTCGCAAGACACTG	0.378000														75			17		0	0	1	0	0
IGSF22	283284	broad.mit.edu	37	11	18741319	18741319	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18741319C>T	uc009yht.2	-	6	830	c.640G>A	c.(640-642)Gac>Aac	p.D214N	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	214	Lys-rich.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCCCGAAAGTCGGTGAAACCA	0.517000														297			66		0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33486990	33486990	+	Silent	SNP	G	A	A	rs142685730		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33486990G>A	uc002nuf.3	-	10	1428	c.1362C>T	c.(1360-1362)taC>taT	p.Y454Y	RHPN2_uc010xro.2_Silent_p.Y303Y|RHPN2_uc002nue.3_Silent_p.Y184Y	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	454	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGTGCTGGGCGTACGTGAGCC	0.622000														176			26		0	0	1	0	0
NASP	4678	broad.mit.edu	37	1	46083795	46083795	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46083795T>C	uc001coi.2	+	14	2508	c.2349T>C	c.(2347-2349)gtT>gtC	p.V783V	NASP_uc001coj.2_Silent_p.V444V|NASP_uc010olr.2_Silent_p.V719V|NASP_uc001col.2_Silent_p.V291V	NM_002482	NP_002473	P49321	NASP_HUMAN	Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.	783					DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GAGCTACAGTTGAAAGCACTG	0.483000														12			4		0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82302695	82302695	+	Missense_Mutation	SNP	G	A	A	rs138982442	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:82302695G>A	uc001dit.4	+	2	207	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	LPHN2_uc001dis.3_Missense_Mutation_p.R9Q|LPHN2_uc001diu.3_Missense_Mutation_p.R9Q|LPHN2_uc001div.3_Missense_Mutation_p.R9Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R9Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAGAATGCGAAGTCTGTGG	0.333000														56			8		0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43324962	43324962	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43324962C>A	uc003oux.3	-	2	1168	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	364					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AAAGAATATCCTGGCTCCGAT	0.512000														140			31		3.1745e-13	3.69426e-13	1	1	0
CELSR3	1951	broad.mit.edu	37	3	48670820	48670820	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48670820G>T	uc003cuf.1	-	37	10368	c.10368C>A	c.(10366-10368)tgC>tgA	p.C3456*	CELSR3_uc003cug.3_Nonsense_Mutation_p.C41*|CELSR3_uc011bbp.2_Nonsense_Mutation_p.C62*|CELSR3_uc010hke.3_5'UTR|CELSR3_uc003cuk.3_Nonsense_Mutation_p.C62*|CELSR3_uc003cuh.3_Nonsense_Mutation_p.C62*|CELSR3_uc003cui.3_Nonsense_Mutation_p.C62*|CELSR3_uc003cuj.3_Nonsense_Mutation_p.C62*	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGCACGGGAGCACCTAGGGA	0.617000														96			21		1.40151e-16	1.67335e-16	1	1	0
PHF7	51533	broad.mit.edu	37	3	52448595	52448595	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52448595T>G	uc003ddy.3	+	3	984	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	PHF7_uc003ddz.3_Missense_Mutation_p.F60V	NM_016483	NP_057567	Q9BWX1	PHF7_HUMAN	Homo sapiens PHD finger protein 7 (PHF7), transcript variant 1, mRNA.	60						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		CGTGCATTATTTCTGTCTTGT	0.443000														100			5		0	0	1	0	0
VAC14	55697	broad.mit.edu	37	16	70818699	70818699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70818699G>A	uc002ezm.3	-	3	724	c.466C>T	c.(466-468)Ctc>Ttc	p.L156F	VAC14_uc010cfw.3_5'UTR|VAC14_uc002ezn.3_5'UTR	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	156					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CGGTCTAGGAGCTCAGATCCG	0.498000														224			48		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39907596	39907596	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907596C>T	uc010xuz.2	+	6	1025	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L	PLEKHG2_uc010xuy.2_Silent_p.L175L|PLEKHG2_uc002olj.3_Silent_p.L234L|PLEKHG2_uc010xva.2_Silent_p.L41L	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	234	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GAGCTTCCTGCTGAAACCTGT	0.672000														228			11		0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44296954	44296954	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44296954C>T	uc001myb.3	-	1	825	c.721G>A	c.(721-723)Gtg>Atg	p.V241M		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	241					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCGCATACACGTCTGGGTAG	0.612000														309			71		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967596	106967596	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106967596T>C	uc003prh.3	+	1	2201	c.1289T>C	c.(1288-1290)aTc>aCc	p.I430T		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	430							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCACAAGACATCCCCACCACT	0.483000														149			28		0	0	1	0	0
C10orf35	219738	broad.mit.edu	37	10	71392750	71392750	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71392750C>T	uc001jpq.4	+	3	471	c.301C>T	c.(301-303)Ctt>Ttt	p.L101F		NM_145306	NP_660349	Q96D05	CJ035_HUMAN	Homo sapiens chromosome 10 open reading frame 35 (C10orf35), mRNA.	101						integral to membrane		p.M100V(1)		breast(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						GCTCATGATGCTTGGTGTTCG	0.592000														257			35		0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134090667	134090667	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134090667T>C	uc004cag.3	+	30	5772	c.5661T>C	c.(5659-5661)agT>agC	p.S1887S	NUP214_uc004cah.3_Silent_p.S1877S|NUP214_uc004cai.3_Silent_p.S1317S|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.S713S	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1887	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GTTTCTTCAGTGGCCTTGGAG	0.498000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""									142			59		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032912	153032912	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032912G>A	uc010nuk.2	+	3	970	c.699G>A	c.(697-699)ggG>ggA	p.G233G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.G210G|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	210	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGGCCGGGTCTCAGCCCT	0.716000														46			15		0	0	1	0	0
KCTD6	200845	broad.mit.edu	37	3	58487184	58487184	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58487184G>A	uc003dkj.4	+	2	656	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KCTD6_uc003dkk.4_Missense_Mutation_p.G180E	NM_001128214	NP_699162	Q8NC69	KCTD6_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 6 (KCTD6), transcript variant 2, mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		TTTACTTTTGGACCCTGTGAT	0.438000														103			23		0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123332856	123332856	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123332856C>A	uc003vkz.3	-	8	1220	c.892G>T	c.(892-894)Ggt>Tgt	p.G298C		NM_003941	NP_003932	O00401	WASL_HUMAN	Homo sapiens Wiskott-Aldrich syndrome-like (WASL), mRNA.	298	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ggaggaggacctgagttgtgt	0.602000														141			27		9.39395e-14	1.09849e-13	1	1	0
LRP5	4041	broad.mit.edu	37	11	68181324	68181324	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68181324G>A	uc001ont.3	+	11	2746	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N	LRP5_uc009ysg.3_Missense_Mutation_p.D301N	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	891	Beta-propeller 3.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTCGTGATGGACATCCTGGT	0.607000														136			35		0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241829557	241829557	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241829557C>T	uc002wae.4	-	2	918	c.759G>A	c.(757-759)ctG>ctA	p.L253L	C2orf54_uc002wac.3_Silent_p.L85L|C2orf54_uc002wad.3_Silent_p.L104L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	253										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCCTCGTGAGCAGGTAGTCAG	0.682000														129			22		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140746123	140746123	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140746123C>T	uc003lju.2	+	0	2226	c.2226C>T	c.(2224-2226)ggC>ggT	p.G742G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.G742G	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	752					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)			ACTTTGTGGGCGTGGATGGGG	0.627000														337			61		0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190742119	190742119	+	Missense_Mutation	SNP	G	A	A	rs147566508	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190742119G>A	uc002urh.4	+	12	3285	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	PMS1_uc002urk.4_Missense_Mutation_p.R880H|PMS1_uc002uri.4_Missense_Mutation_p.R757H|PMS1_uc010zgc.2_Missense_Mutation_p.R743H|PMS1_uc010zgd.2_Missense_Mutation_p.R743H|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010frz.3_Missense_Mutation_p.R235H|PMS1_uc002url.3_Missense_Mutation_p.R542H|PMS1_uc002urm.3_Non-coding_Transcript	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	919					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GTTCATGGTCGCCCATTTTTT	0.328000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)						45			16		0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131329877	131329877	+	Silent	SNP	C	T	T	rs17854460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131329877C>T	uc003kvx.2	-	1	226	c.117G>A	c.(115-117)gaG>gaA	p.E39E	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Silent_p.E39E|ACSL6_uc003kvy.2_Silent_p.E39E|ACSL6_uc003kvz.2_Silent_p.E14E|ACSL6_uc021ydh.1_Silent_p.E14E|ACSL6_uc010jdo.2_Silent_p.E14E|ACSL6_uc003kwa.2_Silent_p.E25E|ACSL6_uc003kwc.1_Silent_p.E14E|ACSL6_uc003kwd.1_Silent_p.E14E|ACSL6_uc010jdn.2_Silent_p.E14E	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	14					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCACCTAGCTCAGGCAGTC	0.542000														62			18		0	0	1	0	0
ISCA2	122961	broad.mit.edu	37	14	74961670	74961670	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74961670C>T	uc001xpz.2	+	3	460	c.432C>T	c.(430-432)tgC>tgT	p.C144C	NPC2_uc001xpy.3_5'Flank|NPC2_uc010tus.2_5'Flank	NM_194279	NP_919255	Q86U28	ISCA2_HUMAN	Homo sapiens iron-sulfur cluster assembly 2 homolog (S. cerevisiae) (ISCA2), mRNA.	144					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00146)		AGCAAGGCTGCTCCTGTGGGT	0.463000														153			20		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120976165	120976165	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:120976165G>A	uc003eec.4	+	16	1957	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	STXBP5L_uc011bji.2_Missense_Mutation_p.S606N	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	606					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACAAAGGACAGTATTCCATGC	0.373000														123			30		0	0	1	0	0
SPTLC3	55304	broad.mit.edu	37	20	13140662	13140662	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13140662G>A	uc002wod.1	+	10	1717	c.1428G>A	c.(1426-1428)agG>agA	p.R476R		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	476					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTTTGCAAGGCATATGCTAG	0.423000														149			32		0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132289243	132289243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132289243C>T	uc002tta.3	+	3	603	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CCDC74A_uc002ttb.3_Missense_Mutation_p.A118V|CCDC74A_uc021vpq.1_Missense_Mutation_p.A184V|CCDC74A_uc021vpr.1_Missense_Mutation_p.A226V	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	184										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAAGGCAAGGCCAGGCCCCAG	0.577000														72			26		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8175947	8175947	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8175947C>T	uc002mjf.3	-	31	4222	c.4205G>A	c.(4204-4206)tGc>tAc	p.C1402Y		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1402	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTTACCCTGGCAGGCCCGGTG	0.667000														117			16		0	0	1	0	0
DIEXF	27042	broad.mit.edu	37	1	210004254	210004254	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:210004254A>G	uc001hhr.2	+	2	351	c.254A>G	c.(253-255)gAa>gGa	p.E85G	DIEXF_uc009xcu.2_5'UTR	NM_014388	NP_055203	Q68CQ4	DIEXF_HUMAN	Homo sapiens digestive organ expansion factor homolog (zebrafish) (DIEXF), mRNA.	85	Glu-rich.				multicellular organismal development	nucleus				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GTTTCTgaggaagaagaggaa	0.423000														108			25		0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600484	3600484	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3600484G>A	uc002lyg.2	-	1	536	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TBXA2R_uc021umv.1_Missense_Mutation_p.A50V	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	50					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	CCGCGCGCCCGCCAGCACGCT	0.697000														118			16		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37215952	37215952	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37215952A>G	uc002rpp.1	-	34	5844	c.5748T>C	c.(5746-5748)aaT>aaC	p.N1916N	HEATR5B_uc010ezy.1_Silent_p.N411N	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAGGGCACGATTGGAATGCT	0.363000														96			27		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37296066	37296066	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37296066A>G	uc002rpp.1	-	7	1031	c.935T>C	c.(934-936)gTt>gCt	p.V312A		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	312							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CACAAAAACAACATACGCCTG	0.423000														52			22		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34531296	34531296	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34531296C>A	uc001zhw.3	-	18	2666	c.2502G>T	c.(2500-2502)aaG>aaT	p.K834N	SLC12A6_uc001zhv.3_Missense_Mutation_p.K783N|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.K819N|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.K775N|SLC12A6_uc001zib.3_Missense_Mutation_p.K825N|SLC12A6_uc001zic.3_Missense_Mutation_p.K834N|SLC12A6_uc010bau.3_Missense_Mutation_p.K834N|SLC12A6_uc001zid.3_Missense_Mutation_p.K775N|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.K646N	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	834					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CCTCTCTCAGCTTGGCGGCCA	0.557000														382			78		1.12115e-39	1.42509e-39	1	1	0
CPN1	1369	broad.mit.edu	37	10	101835819	101835819	+	Missense_Mutation	SNP	G	A	A	rs138185881		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101835819G>A	uc001kql.2	-	1	529	c.269C>T	c.(268-270)gCg>gTg	p.A90V		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	90	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GCGGCCCAACGCTTCGTTGCC	0.557000														165			49		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737071	4737071	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4737071G>T	uc001qnb.4	-	3	1241	c.997C>A	c.(997-999)Ctc>Atc	p.L333I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	333					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GAGTCGATGAGATCCGAGACC	0.483000														92			16		4.7546e-09	5.25358e-09	1	1	0
MR1	3140	broad.mit.edu	37	1	181019366	181019366	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181019366G>A	uc001goq.2	+	3	709	c.548G>A	c.(547-549)tGt>tAt	p.C183Y	MR1_uc001gor.2_Missense_Mutation_p.C138Y|MR1_uc001gos.2_Missense_Mutation_p.C183Y|MR1_uc010pns.2_Missense_Mutation_p.C183Y|MR1_uc001gop.3_Missense_Mutation_p.C183Y	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	183	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGAAGAATGTATTGCCTGG	0.468000														122			29		0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1414875	1414875	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:1414875C>T	uc003jck.3	-	7	1213	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	363					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGAAGACGACGAAGCCGGAG	0.612000														112			23		0	0	1	0	0
SF3A2	8175	broad.mit.edu	37	19	2247848	2247848	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2247848C>A	uc002lvg.3	+	8	820	c.698C>A	c.(697-699)cCt>cAt	p.P233H	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	233	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGAAGCGGCCTCCACCCCCG	0.677000														137			16		4.7546e-09	5.25358e-09	1	1	0
ZHX2	22882	broad.mit.edu	37	8	123965081	123965081	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:123965081G>A	uc022bag.1	+	0	1331	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	ZHX2_uc003ypk.1_Missense_Mutation_p.R444H	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	444	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GCCAGTGACCGCAAGAAGACA	0.617000														74			23		0	0	1	0	0
LRG1	116844	broad.mit.edu	37	19	4538016	4538016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4538016G>A	uc002mau.3	-	1	991	c.980C>T	c.(979-981)aCg>aTg	p.T327M	PLIN5_uc002mas.3_5'Flank|PLIN5_uc002mat.1_Intron	NM_052972	NP_443204	P02750	A2GL_HUMAN	Homo sapiens leucine-rich alpha-2-glycoprotein 1 (LRG1), mRNA.	327	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACAGCGCGTGTCATTCTG	0.592000														133			30		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89873447	89873447	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89873447C>T	uc002bns.4	-	2	1002	c.720G>A	c.(718-720)tcG>tcA	p.S240S	POLG_uc002bnr.4_Silent_p.S240S	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	240					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GGTCAGCCGGCGACAGCTGGC	0.612000								DNA polymerases (catalytic subunits)						133			9		0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46670671	46670671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46670671C>T	uc002inr.3	-	0	433	c.374G>A	c.(373-375)aGc>aAc	p.S125N	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	125						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGCGCTGGAGCTGGCTGAGGT	0.682000														125			35		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48463136	48463136	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48463136G>T	uc003csw.2	-	6	1870	c.1600C>A	c.(1600-1602)Ctg>Atg	p.L534M	PLXNB1_uc003csu.2_Missense_Mutation_p.L534M|PLXNB1_uc003csx.2_Missense_Mutation_p.L534M|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	534					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCACTTGCAGACAGCCCAGC	0.632000														121			27		4.87955e-14	5.71551e-14	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140799113	140799113	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799113C>A	uc003lkn.2	+	0	1854	c.1687C>A	c.(1687-1689)Ctg>Atg	p.L563M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.L563M|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	565	Cadherin 5.				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)			ACCGCGGGTGCTGTACCCTGC	0.721000														154			35		1.26612e-14	1.49017e-14	1	1	0
C16orf78	123970	broad.mit.edu	37	16	49407930	49407930	+	Missense_Mutation	SNP	G	A	A	rs144505396	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:49407930G>A	uc002efr.3	+	0	123	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512000														175			32		0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67702121	67702121	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67702121G>A	uc002ety.3	+	3	729	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_3'UTR|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	191										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CAGCGCCTGCGGCCGCTGTAC	0.662000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			11		0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49298137	49298137	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49298137A>C	uc001rso.3	+	0	245	c.18A>C	c.(16-18)aaA>aaC	p.K6N		NM_033124	NP_149115	Q8IXS2	CCD65_HUMAN	Homo sapiens coiled-coil domain containing 65 (CCDC65), mRNA.	6										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AGAAAGAAAAAATGGCCAAGA	0.537000											OREG0021772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		281			53		0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526150	155526150	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155526150T>G	uc003ioj.3	-	8	1339	c.1198A>C	c.(1198-1200)Acc>Ccc	p.T400P	FGG_uc003iog.3_Missense_Mutation_p.T400P	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	400	Fibrinogen C-terminal.|Gamma-chain polymerization, binding amino end of another fibrin alpha chain.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TACCACCGGGTTTTCCAAGTG	0.418000														127			23		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15844149	15844149	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15844149G>A	uc002ddx.3	-	16	2032	c.1925C>T	c.(1924-1926)aCg>aTg	p.T642M	MYH11_uc002ddv.3_Missense_Mutation_p.T642M|MYH11_uc002ddw.3_Missense_Mutation_p.T635M|MYH11_uc002ddy.3_Missense_Mutation_p.T635M|MYH11_uc010bvg.3_Missense_Mutation_p.T467M|MYH11_uc002dea.1_Missense_Mutation_p.T341M	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	635	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T635M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGAGCTCTCCGTCATCTTGGC	0.627000			T	CBFB	AML									58			11		0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753963	123753963	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123753963G>A	uc001pzi.3	-	3	768	c.560C>T	c.(559-561)tCt>tTt	p.S187F		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	187						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						ATCTTCGATAGAATTCTCAGA	0.433000														110			18		0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44680390	44680390	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44680390G>A	uc010zxl.1	+	17	2403	c.2327G>A	c.(2326-2328)gGc>gAc	p.G776D	SLC12A5_uc002xrb.2_Missense_Mutation_p.G753D	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	776					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTGCGTGATGGCGTGTCCCAT	0.607000														240			10		0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204985538	204985538	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204985538C>T	uc010prc.2	+	26	3623	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	NFASC_uc001hbj.3_Silent_p.G1198G|NFASC_uc010pra.2_Silent_p.G1132G|NFASC_uc001hbi.3_Silent_p.G1127G|NFASC_uc010prb.2_Silent_p.G1147G|NFASC_uc001hbl.2_Silent_p.G274G|NFASC_uc001hbm.2_Silent_p.G221G|NFASC_uc009xbh.2_Missense_Mutation_p.A53V|NFASC_uc001hbo.2_Missense_Mutation_p.A74V			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	1305	Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.R697R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCGAGGGTGGCGAGGGTCAGT	0.572000														297			24		0	0	1	0	0
C1orf116	79098	broad.mit.edu	37	1	207195513	207195513	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207195513G>A	uc001hfd.2	-	3	1855	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	C1orf116_uc009xcb.1_Silent_p.S286S|C1orf116_uc021pii.1_Silent_p.S286S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	532						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					CCGTGCCCAGGGAGGCCGGGC	0.592000														62			26		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299043	62299043	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62299043G>T	uc001ntl.3	-	4	3146	c.2846C>A	c.(2845-2847)cCt>cAt	p.P949H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	949					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCCACATCAGGCATGGAGAT	0.463000														363			56		1.17673e-23	1.45863e-23	1	1	0
VPS13B	157680	broad.mit.edu	37	8	100147882	100147882	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100147882C>T	uc003yiv.3	+	10	1595	c.1484C>T	c.(1483-1485)aCa>aTa	p.T495I	VPS13B_uc003yiw.3_Missense_Mutation_p.T495I|VPS13B_uc003yit.3_Missense_Mutation_p.T495I|VPS13B_uc003yiu.1_Missense_Mutation_p.T495I|VPS13B_uc003yix.1_5'Flank	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	495					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)			ACATACCTTACAAATTCATTG	0.328000														31			9		0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5991326	5991326	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:5991326C>A	uc010cli.3	+	2	823	c.444C>A	c.(442-444)tgC>tgA	p.C148*	WSCD1_uc002gcn.3_Nonsense_Mutation_p.C148*|WSCD1_uc002gco.3_Nonsense_Mutation_p.C148*|WSCD1_uc010clj.3_Intron	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	148	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						ACATTGGATGCTTCAGTGACG	0.537000														149			8		0.000442599	0.000455268	1	1	0
DMBT1	1755	broad.mit.edu	37	10	124336170	124336170	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124336170G>A	uc001lgk.1	+	6	645	c.539G>A	c.(538-540)aGc>aAc	p.S180N	DMBT1_uc001lgl.1_Missense_Mutation_p.S180N|DMBT1_uc001lgm.1_Missense_Mutation_p.S180N|DMBT1_uc021qaf.1_Missense_Mutation_p.S180N|DMBT1_uc021qag.1_Missense_Mutation_p.S180N|DMBT1_uc021qah.1_Missense_Mutation_p.S180N|DMBT1_uc009xzz.1_Missense_Mutation_p.S180N|DMBT1_uc010qtx.1_Missense_Mutation_p.S180N|DMBT1_uc009yaa.1_Missense_Mutation_p.S32N	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	180	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TACCTGTGGAGCTGCCCCCAC	0.577000														285			22		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13419063	13419063	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13419063T>C	uc002mwy.3	-	13	2020	c.1784A>G	c.(1783-1785)tAc>tGc	p.Y595C	CACNA1A_uc010dzc.2_Missense_Mutation_p.Y121C|CACNA1A_uc010xnd.2_Missense_Mutation_p.Y595C|CACNA1A_uc021ups.1_Missense_Mutation_p.Y595C|CACNA1A_uc010xne.2_Missense_Mutation_p.Y595C|CACNA1A_uc010dze.2_Missense_Mutation_p.Y595C|CACNA1A_uc021upt.1_Missense_Mutation_p.Y596C	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	596					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)	AGATGCCCAGTACCTGCCGAC	0.582000														53			13		0	0	1	0	0
VIM	7431	broad.mit.edu	37	10	17276772	17276772	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17276772A>G	uc001iou.2	+	5	1376	c.963A>G	c.(961-963)agA>agG	p.R321R		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	321	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTACCGGAGACAGGTGCAGT	0.522000														117			23		0	0	1	0	0
CHAD	1101	broad.mit.edu	37	17	48545740	48545740	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48545740C>T	uc010dbr.3	-	0	488	c.435G>A	c.(433-435)ccG>ccA	p.P145P	ACSF2_uc002iqu.2_Intron|ACSF2_uc010wml.1_Intron|ACSF2_uc010wmm.1_Intron|ACSF2_uc010wmn.1_Intron|ACSF2_uc010wmo.1_Intron|CHAD_uc010dbs.3_Silent_p.P145P|ACSF2_uc010dbt.1_5'UTR	NM_001267	NP_001258	O15335	CHAD_HUMAN	Homo sapiens chondroadherin (CHAD), mRNA.	145					regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GGTTGACCAGCGGGGAGAGCA	0.627000														162			29		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96100033	96100033	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96100033C>A	uc001kjq.1	-	16	1868	c.1780_splice	c.e16+1	p.G594_splice		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	594						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ACATACATACCTGCATGTAAT	0.299000														59			12		7.03913e-09	7.75971e-09	1	1	0
ERBB2IP	55914	broad.mit.edu	37	5	65350624	65350624	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65350624A>C	uc003juk.2	+	20	3788	c.3478A>C	c.(3478-3480)Agt>Cgt	p.S1160R	ERBB2IP_uc011cqx.2_Missense_Mutation_p.S1160R|ERBB2IP_uc003jui.2_Missense_Mutation_p.S1160R|ERBB2IP_uc003jul.2_Missense_Mutation_p.S1156R|ERBB2IP_uc011cqy.2_Missense_Mutation_p.S1160R|ERBB2IP_uc003juj.2_Missense_Mutation_p.S1160R|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Missense_Mutation_p.S1156R	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1160					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TATGTCAGTTAGTGATTTCAA	0.403000														87			19		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317309	141317309	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141317309G>A	uc011chi.2	-	9	1153	c.935C>T	c.(934-936)gCt>gTt	p.A312V	CLGN_uc003iii.3_Missense_Mutation_p.A312V	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	312					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					AAGCCAGCCAGCAGGTTTAAC	0.348000														183			30		0	0	1	0	0
MTHFD1L	25902	broad.mit.edu	37	6	151281474	151281474	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151281474G>A	uc021zgs.1	+	17	2014	c.1870G>A	c.(1870-1872)Gca>Aca	p.A624T	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Missense_Mutation_p.A623T|MTHFD1L_uc021zgt.1_Missense_Mutation_p.A558T|MTHFD1L_uc003qoc.3_Missense_Mutation_p.A571T	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	623	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGACAGCCTCGCAGACATGAA	0.592000														77			13		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73964099	73964099	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73964099G>T	uc004eby.3	-	2	910	c.293C>A	c.(292-294)gCc>gAc	p.A98D		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	98					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						GAGGGAGATGGCATTCACAGA	0.517000														126			31		1.39806e-14	1.64448e-14	1	1	0
NUDCD3	23386	broad.mit.edu	37	7	44425626	44425626	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44425626C>T	uc003tkz.3	-	5	1256	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	NUDCD3_uc010kye.3_Non-coding_Transcript	NM_015332	NP_056147	Q8IVD9	NUDC3_HUMAN	Homo sapiens NudC domain containing 3 (NUDCD3), mRNA.	357										endometrium(2)|large_intestine(1)|lung(3)|skin(1)	7						CTGCACAGCCCCCGGGGAGAT	0.572000														136			11		0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	124177183	124177183	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:124177183C>T	uc003iez.4	+	14	2426	c.2353C>T	c.(2353-2355)Cct>Tct	p.P785S		NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	785					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTTGATGCGGCCTGGAAGAAT	0.408000														93			19		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31618023	31618023	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31618023G>T	uc011kae.2	+	7	1235	c.1223G>T	c.(1222-1224)gGa>gTa	p.G408V	CCDC129_uc011kad.1_Missense_Mutation_p.G392V|CCDC129_uc003tcj.1_Missense_Mutation_p.G382V|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.G290V	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	382										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCAGGCAAAGGACCAGACTCA	0.483000														60			12		0.00010058	0.000104357	1	1	0
ZFP106	64397	broad.mit.edu	37	15	42740566	42740566	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42740566C>A	uc001zpw.3	-	2	3097	c.2770G>T	c.(2770-2772)Ggt>Tgt	p.G924C	ZFP106_uc001zpu.3_Missense_Mutation_p.G109C|ZFP106_uc001zpv.3_Missense_Mutation_p.G109C|ZFP106_uc001zpx.3_Missense_Mutation_p.G152C|ZFP106_uc010udh.1_Missense_Mutation_p.G707C	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	924						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCCCTTTCACCTGTTCGGAGG	0.473000														281			56		3.73128e-16	4.44061e-16	1	1	0
MARK2	2011	broad.mit.edu	37	11	63667527	63667527	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63667527T>C	uc001nxw.3	+	7	1292	c.713T>C	c.(712-714)gTt>gCt	p.V238A	MARK2_uc001nxv.4_Missense_Mutation_p.V238A|MARK2_uc001nxx.3_Missense_Mutation_p.V238A|MARK2_uc001nxy.3_Missense_Mutation_p.V238A|MARK2_uc001nxz.4_Missense_Mutation_p.V205A|MARK2_uc009yoy.3_Missense_Mutation_p.V205A	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	238	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.F238L(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						AGCCTAGGAGTTATCCTCTAT	0.507000														263			70		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958825	50958825	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50958825A>G	uc002psf.2	+	19	2313	c.2262A>G	c.(2260-2262)acA>acG	p.T754T		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	754	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCACCACCACACTCAAGTGGA	0.592000														198			47		0	0	1	0	0
THEG	51298	broad.mit.edu	37	19	371285	371285	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:371285C>T	uc002lol.3	-	5	716	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	THEG_uc002lom.3_Missense_Mutation_p.E201K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	225					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCTGTATTCCAGGGAGGAC	0.632000														374			111		0	0	1	0	0
NR3C1	2908	broad.mit.edu	37	5	142693707	142693707	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:142693707G>T	uc003lnd.3	-	2	2205	c.1211C>A	c.(1210-1212)tCt>tAt	p.S404Y	NR3C1_uc003lmy.3_Missense_Mutation_p.S404Y|NR3C1_uc003lmz.3_Missense_Mutation_p.S69Y|NR3C1_uc003lna.3_Missense_Mutation_p.S404Y|NR3C1_uc003lnb.3_Missense_Mutation_p.S404Y|NR3C1_uc011dbk.2_Missense_Mutation_p.S7Y|NR3C1_uc003lnf.3_Missense_Mutation_p.S404Y|NR3C1_uc003lne.3_Missense_Mutation_p.S404Y|NR3C1_uc003lnc.3_Missense_Mutation_p.S404Y|NR3C1_uc021yfa.1_Missense_Mutation_p.S404Y|NR3C1_uc021yfb.1_Missense_Mutation_p.S404Y	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	404	Glu/Pro/Ser/Thr-rich (PEST region).|Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGATGGAGGAGAGCTTACATC	0.448000														58			14		9.05144e-12	1.03561e-11	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134071914	134071914	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134071914G>T	uc003iha.3	+	0	1445	c.619G>T	c.(619-621)Gga>Tga	p.G207*	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Nonsense_Mutation_p.G207*	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	207	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGGACggaggaggtggggg	0.692000														128			43		6.33695e-27	7.93012e-27	1	1	0
EPX	8288	broad.mit.edu	37	17	56271324	56271324	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56271324G>A	uc002ivq.3	+	5	584	c.465_splice	c.e5-1	p.K155_splice		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	155					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATGGCTGCAGGAGGAGACCCT	0.672000														117			26		0	0	1	0	0
TBX21	30009	broad.mit.edu	37	17	45811195	45811195	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45811195C>T	uc002ilv.1	+	0	586	c.375C>T	c.(373-375)taC>taT	p.Y125Y		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	125					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGAGGACTACGCGCTACCCG	0.692000														32			8		0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102295657	102295657	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:102295657C>A	uc003knt.3	+	11	1357	c.984C>A	c.(982-984)acC>acA	p.T328T	PAM_uc003knw.3_Silent_p.T328T|PAM_uc003kns.3_Silent_p.T328T|PAM_uc003knu.3_Silent_p.T328T|PAM_uc011cuz.2_Silent_p.T231T|PAM_uc003knv.3_Silent_p.T328T|PAM_uc003knx.1_Silent_p.T20T	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	328	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CTTTCATGACCTGTACCCAGA	0.408000														78			25		1.66031e-10	1.87009e-10	1	1	0
PADI6	353238	broad.mit.edu	37	1	17722154	17722154	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17722154C>T	uc001bak.1	+	13	1613	c.1613C>T	c.(1612-1614)tCt>tTt	p.S538F		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	530					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)	CAGCTCCTGTCTAATGGTAAG	0.502000														28			3		0	0	1	0	0
METTL17	64745	broad.mit.edu	37	14	21465009	21465009	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21465009C>T	uc001vyo.3	+	12	1601	c.1404C>T	c.(1402-1404)tgC>tgT	p.C468C	METTL17_uc001vym.3_Missense_Mutation_p.A435V|METTL17_uc001vyn.3_Missense_Mutation_p.A444V|SLC39A2_uc001vys.3_5'Flank|SLC39A2_uc001vyr.3_5'Flank	NM_001029991	NP_001025162	Q9H7H0	MET17_HUMAN	Homo sapiens methyltransferase like 17 (METTL17), transcript variant 1, mRNA.	0					translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						ACTCCGTCTGCGTTTCCTCCA	0.527000														176			9		0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86293447	86293447	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86293447C>A	uc004amv.3	-	4	1353	c.779G>T	c.(778-780)aGc>aTc	p.S260I	UBQLN1_uc004amw.3_Missense_Mutation_p.S260I	NM_013438	NP_038466	Q9UMX0	UBQL1_HUMAN	Homo sapiens ubiquilin 1 (UBQLN1), transcript variant 1, mRNA.	260					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCTAGGTTGCTCAAAGCTCG	0.443000														514			102		1.76403e-45	2.24789e-45	1	1	0
IK	3550	broad.mit.edu	37	5	140040342	140040342	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140040342G>T	uc003lgq.3	+	16	1466	c.1356_splice	c.e16-1	p.T452_splice	U7_uc021yeo.1_5'Flank	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	452					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCCTTAGGATGGATGAC	0.463000														93			14		1.49906e-05	1.573e-05	1	1	0
FAM69A	388650	broad.mit.edu	37	1	93341969	93341969	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93341969G>A	uc001dpg.3	-	1	166	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	FAM69A_uc001dpc.3_Missense_Mutation_p.R25W|FAM69A_uc010otg.2_Missense_Mutation_p.R18W|FAM69A_uc021opu.1_5'UTR|FAM69A_uc021opv.1_Intron|FAM69A_uc021opw.1_Missense_Mutation_p.R25W	NM_001006605	NP_001006606	Q5T7M9	FA69A_HUMAN	Homo sapiens family with sequence similarity 69, member A (FAM69A), transcript variant 1, mRNA.	25						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		TATTTCATCCGCACATATGAG	0.383000														46			6		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583423	10583423	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:10583423T>C	uc011kwz.2	-	5	1181	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	SOX7_uc003wtf.3_Missense_Mutation_p.E331G	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	331	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CTGGTCGAATTCATTGCGATC	0.627000														107			29		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25450163	25450163	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25450163C>T	uc011djw.2	+	5	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468000														50			12		0	0	1	0	0
FAM46D	169966	broad.mit.edu	37	X	79699097	79699097	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:79699097G>A	uc022bzm.1	+	0	1059	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	FAM46D_uc004edl.1_Silent_p.P353P|FAM46D_uc004edm.2_Silent_p.P353P	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	353										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCCTGCTCCGTACTTTGCAG	0.453000														68			22		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155885736	155885736	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155885736C>A	uc001fmi.1	-	12	1597	c.1573G>T	c.(1573-1575)Gcc>Tcc	p.A525S	KIAA0907_uc001fmj.1_Missense_Mutation_p.A525S	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	525										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACTGGAAAGGCTGGTGGAGGC	0.413000														380			126		2.36156e-58	3.01657e-58	1	1	0
RSPO4	343637	broad.mit.edu	37	20	944697	944697	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:944697G>A	uc002wej.3	-	3	576	c.476C>T	c.(475-477)tCg>tTg	p.S159L	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	159	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GCCCCAAGCCGAGCCGCAGGT	0.632000														109			32		0	0	1	0	0
WWP2	11060	broad.mit.edu	37	16	69922018	69922018	+	Silent	SNP	C	A	A	rs145327694		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69922018C>A	uc002exu.1	+	8	869	c.780C>A	c.(778-780)ccC>ccA	p.P260P	WWP2_uc002ext.3_Silent_p.P260P|WWP2_uc002exv.1_Silent_p.P260P|WWP2_uc010vlm.1_Silent_p.P144P	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	260					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTGCTGCACCCTTGAGTGTGA	0.557000														229			41		1.57019e-19	1.90796e-19	1	1	0
KAZN	23254	broad.mit.edu	37	1	15420728	15420728	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:15420728C>T	uc001avm.4	+	8	1556	c.1275C>T	c.(1273-1275)ggC>ggT	p.G425G		NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	Homo sapiens kazrin, periplakin interacting protein (KAZN), transcript variant E, mRNA.	425					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGTCGGAAGGCGAGGAGCAGA	0.677000														86			26		0	0	1	0	0
RHOBTB3	22836	broad.mit.edu	37	5	95072759	95072759	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95072759C>T	uc003klm.3	+	2	932	c.395C>T	c.(394-396)gCt>gTt	p.A132V	RHOBTB3_uc003klk.1_5'UTR	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	132	Rho-like.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ATTATTGCTGCTGTTGGTACC	0.269000														59			12		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2719093	2719093	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2719093G>A	uc003zho.2	+	0	1568	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	452						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A452T(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GTGGTGGGCCGCGGTGAGTAC	0.602000														96			22		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102493837	102493837	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102493837T>C	uc001yks.2	+	45	9168	c.9004T>C	c.(9004-9006)Tct>Cct	p.S3002P		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	3002	AAA 4 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGTGTTAGATTCTGGATTCCT	0.433000														151			38		0	0	1	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525823	42525823	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42525823G>A	uc003bce.3	-	1	359	c.269C>T	c.(268-270)gCg>gTg	p.A90V	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.A90V	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	90							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTCACCAGCGCCTCGCGCAC	0.716000														92			16		0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143088579	143088579	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143088579G>T	uc003wcz.3	-	17	2989	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	968	SAM.					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)				ATACTGCAAAGAATGCGCTTC	0.612000														67			15		1.49906e-05	1.573e-05	1	1	0
SF3B3	23450	broad.mit.edu	37	16	70603981	70603981	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70603981G>T	uc002ezf.3	+	23	3548	c.3337G>T	c.(3337-3339)Ggc>Tgc	p.G1113C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1113					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GATCCCTGGAGGCTCAGAATC	0.532000														136			18		1.99824e-07	2.15697e-07	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174701	150174701	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150174701G>A	uc003whj.3	+	4	2161	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	611						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CCAGGCCCAGGAAACCCAGGT	0.453000														153			23		0	0	1	0	0
YLPM1	56252	broad.mit.edu	37	14	75284986	75284986	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75284986G>A	uc001xqj.4	+	15	6123	c.5999G>A	c.(5998-6000)cGt>cAt	p.R2000H	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Missense_Mutation_p.R483H	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CTAGATATTCGTTCTTTGCTG	0.378000														11			3		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46607801	46607801	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46607801G>T	uc002ruv.3	+	11	2500	c.1990G>T	c.(1990-1992)Gca>Tca	p.A664S	EPAS1_uc002ruw.3_Missense_Mutation_p.A130S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	664					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GTTCTTGGGAGCAGCGCCGTT	0.602000														318			63		1.78668e-44	2.27583e-44	1	1	0
LPIN2	9663	broad.mit.edu	37	18	2937906	2937906	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:2937906C>T	uc002klo.3	-	6	1191	c.952G>A	c.(952-954)Gaa>Aaa	p.E318K		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	318					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ACAGTGTCTTCCATGGAAGCA	0.483000														136			39		0	0	1	0	0
ITPR3	3710	broad.mit.edu	37	6	33630418	33630418	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33630418G>A	uc021ywr.1	+	7	1049	c.825G>A	c.(823-825)tcG>tcA	p.S275S		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	275	MIR 3.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCCACCTCGGCCACCAGCT	0.617000														69			17		0	0	1	0	0
ANO7	50636	broad.mit.edu	37	2	242149899	242149899	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242149899G>A	uc002wax.2	+	14	1740	c.1637G>A	c.(1636-1638)aGc>aAc	p.S546N		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	546						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CGCATCGCCAGCCTCACGGGG	0.647000														171			37		0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68206126	68206126	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68206126G>A	uc001ont.3	+	19	4399	c.4324G>A	c.(4324-4326)Ggt>Agt	p.G1442S	LRP5_uc009ysg.3_Missense_Mutation_p.G852S	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1442					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGCCCCGGGCGGTTCCCAGCA	0.642000														55			16		0	0	1	0	0
RG9MTD2	93587	broad.mit.edu	37	4	100470276	100470276	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100470276G>A	uc003huy.3	-	7	1302	c.989C>T	c.(988-990)aCt>aTt	p.T330I	RG9MTD2_uc003huz.4_Missense_Mutation_p.T330I|RG9MTD2_uc003hva.4_Missense_Mutation_p.T330I	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	330							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		TGTAGATTCAGTGTGATTTTC	0.383000														128			32		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45687562	45687562	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45687562T>C	uc001wwf.3	-	11	3224	c.2765A>G	c.(2764-2766)tAc>tGc	p.Y922C		NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	922	SANT.				CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						ATTTTCCATGTATTTCCTCTG	0.443000														149			16		0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59560891	59560891	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560891G>A	uc001nog.3	+	7	1126	c.579G>A	c.(577-579)gaG>gaA	p.E193E	STX3_uc010rkx.2_Silent_p.E193E|STX3_uc010rky.2_Silent_p.E96E|STX3_uc009ymt.1_Silent_p.E96E	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	193	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	SNARE complex|apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|specific granule	SNAP receptor activity|arachidonic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CCCTCAGTGAGATTGAGGGAC	0.517000														90			9		0	0	1	0	0
PROKR1	10887	broad.mit.edu	37	2	68873141	68873141	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:68873141T>C	uc010yqj.2	+	0	348	c.188T>C	c.(187-189)aTt>aCt	p.I63T	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	63						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCCAAGATTGTCATTGGG	0.507000														254			95		0	0	1	0	0
ZBED4	9889	broad.mit.edu	37	22	50280636	50280636	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50280636C>T	uc003bix.2	+	1	3796	c.3326C>T	c.(3325-3327)gCg>gTg	p.A1109V	ZBED4_uc021wrx.1_Missense_Mutation_p.A1109V	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	1109						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CTGAAGAAGGCGTCCTGGCCG	0.582000														137			29		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	952124	952124	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:952124A>G	uc003gbq.3	+	10	1453	c.1355A>G	c.(1354-1356)cAg>cGg	p.Q452R	TMEM175_uc003gbs.3_Missense_Mutation_p.Q335R|TMEM175_uc003gbt.3_Missense_Mutation_p.Q335R|TMEM175_uc003gbr.3_Missense_Mutation_p.Q370R	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	452						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CACCTCATGCAGATCGCCGTG	0.697000														144			28		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4852162	4852162	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4852162G>A	uc002mbj.2	-	4	677	c.500C>T	c.(499-501)tCc>tTc	p.S167F	PLIN3_uc002mbk.2_Missense_Mutation_p.S155F|PLIN3_uc002mbl.3_Missense_Mutation_p.S167F	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	167					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGTCACTACGGACTTTGTCTT	0.657000											OREG0025175	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		96			10		0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54403724	54403724	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54403724C>T	uc002qcq.1	+	12	1707	c.1425C>T	c.(1423-1425)ggC>ggT	p.G475G	PRKCG_uc010yeg.1_Silent_p.G475G|PRKCG_uc010yeh.1_Silent_p.G362G	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	475	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ACAATCAGGGCATCATCTACA	0.552000														102			17		0	0	1	0	0
NEURL2	140825	broad.mit.edu	37	20	44519145	44519145	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44519145G>A	uc002xqg.1	-	0	757	c.486C>T	c.(484-486)cgC>cgT	p.R162R	SPATA25_uc002xqf.3_5'Flank|CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	162	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CTGGCCGGCTGCGGCCCACCA	0.667000														187			41		0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141310389	141310389	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:141310389G>A	uc011chi.2	-	15	2040	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	CLGN_uc003iii.3_Nonsense_Mutation_p.R608*	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	608					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TAGTCCTTTCGTACTCTTCTT	0.373000														110			6		0	0	1	0	0
C16orf7	9605	broad.mit.edu	37	16	89774857	89774857	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89774857G>T	uc002fom.1	-	13	1905	c.1780C>A	c.(1780-1782)Ctg>Atg	p.L594M	C16orf7_uc002fol.1_Missense_Mutation_p.L524M	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	594	VPS9.				ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AACTCCTCCAGGGCCGCGCAC	0.647000														53			17		1.74485e-21	2.14306e-21	1	1	0
ZNF570	148268	broad.mit.edu	37	19	37966858	37966858	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37966858C>T	uc010efl.1	+	3	396	c.277C>T	c.(277-279)Cat>Tat	p.H93Y	ZNF570_uc002ogk.1_Missense_Mutation_p.H37Y|ZNF570_uc010xtr.1_5'UTR	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	37					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTCAAAGACATCTGTACAG	0.428000														90			19		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160074011	160074011	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160074011T>G	uc002uag.3	+	19	3522	c.3248T>G	c.(3247-3249)cTg>cGg	p.L1083R	TANC1_uc010zcm.2_Missense_Mutation_p.L1075R|TANC1_uc010fom.1_Missense_Mutation_p.L889R|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1083						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCTTTAGCCCTGACTGCCGCC	0.562000														273			67		0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381381	13381381	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:13381381C>A	uc003bxv.1	-	24	3527	c.3444G>T	c.(3442-3444)gaG>gaT	p.E1148D		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1148					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.A1147T(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ccttgccGGTCTCTGCATCCA	0.592000														265			80		1.68508e-47	2.14892e-47	1	1	0
BLVRA	644	broad.mit.edu	37	7	43843295	43843295	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43843295C>T	uc010kxv.3	+	7	658	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	BLVRA_uc003tir.3_Missense_Mutation_p.R161W	NM_001253823	NP_001240752	P53004	BIEA_HUMAN	Homo sapiens biliverdin reductase A (BLVRA), transcript variant 2, mRNA.	161					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGAAGAAGAGCGGTTTGGCTT	0.577000														439			92		0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106692	53106692	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53106692C>A	uc022bxc.1	+	0	889	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	GPR173_uc004dru.3_Missense_Mutation_p.L297I	NM_018969	NP_061842	Q9NS66	GP173_HUMAN	Homo sapiens G protein-coupled receptor 173 (GPR173), mRNA.	297						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L297L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GCTCTTTCTGCTCCTCTGGTC	0.592000														71			23		1.10513e-12	1.27896e-12	1	1	0
FCGBP	8857	broad.mit.edu	37	19	40411738	40411738	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40411738T>C	uc002omp.4	-	6	3898	c.3890A>G	c.(3889-3891)aAc>aGc	p.N1297S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1297	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAGGCCACGTTCTCCTGCAG	0.637000														224			42		0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4950688	4950688	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4950688G>A	uc002mbp.3	+	10	1915	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	UHRF1_uc002mbo.3_Missense_Mutation_p.R528Q|UHRF1_uc010xik.2_Non-coding_Transcript|UHRF1_uc010duf.3_Non-coding_Transcript	NM_013282	NP_037414	Q96T88	UHRF1_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA.	528	Methyl-CpG binding and interaction with HDAC1.|YDG.				DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R541Q(3)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AAGGACTGGCGGTCGGGGAAG	0.607000														83			18		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160031536	160031536	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160031536G>A	uc002uag.3	+	11	1850	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	TANC1_uc010fol.1_Missense_Mutation_p.A420T|TANC1_uc010zcm.2_Missense_Mutation_p.A518T|TANC1_uc010fom.1_Missense_Mutation_p.A332T	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	526						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCACAGCATCGCAGCTTTGCT	0.582000														446			153		0	0	1	0	0
BCCIP	56647	broad.mit.edu	37	10	127516166	127516166	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127516166G>T	uc001ljd.4	+	2	303	c.280G>T	c.(280-282)Gat>Tat	p.D94Y	BCCIP_uc021qar.1_Missense_Mutation_p.D94Y|BCCIP_uc001ljb.4_Missense_Mutation_p.D94Y|BCCIP_uc001ljc.4_Missense_Mutation_p.D94Y|BCCIP_uc010quj.2_Missense_Mutation_p.D94Y	NM_016567	NP_057651	Q9P287	BCCIP_HUMAN	Homo sapiens BRCA2 and CDKN1A interacting protein (BCCIP), transcript variant A, mRNA.	94	Interaction with BRCA2.				DNA repair|cell cycle|neuroendocrine cell differentiation|regulation of cyclin-dependent protein kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex	kinase regulator activity|protein binding	p.T93S(1)		breast(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)	8		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AGAACTAACAGATCTCTTAAT	0.308000														82			14		3.45872e-05	3.61362e-05	1	1	0
NOV	4856	broad.mit.edu	37	8	120430352	120430352	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120430352A>C	uc003yoq.2	+	2	586	c.365A>C	c.(364-366)aAa>aCa	p.K122T		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	122	VWFC.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGTGGAGAGAAATTTCAGCCA	0.512000														105			14		0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345486	33345486	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33345486C>T	uc002xav.3	-	7	3636	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	NCOA6_uc002xaw.3_Silent_p.Q355Q|NCOA6_uc021wcd.1_Silent_p.Q355Q|NCOA6_uc021wce.1_Silent_p.Q355Q|NCOA6_uc021wcf.1_Silent_p.Q355Q|NCOA6_uc010gew.1_Silent_p.Q312Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	355	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				DNA recombination|DNA repair|DNA replication|brain development|cellular lipid metabolic process|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CCTGGAGTTGCTGTTGCATTG	0.592000														179			26		0	0	1	0	0
C14orf49	161176	broad.mit.edu	37	14	95921720	95921720	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95921720G>T	uc001yei.4	-	4	1146	c.1131C>A	c.(1129-1131)cgC>cgA	p.R377R	C14orf49_uc010avi.3_Silent_p.R377R|C14orf49_uc001yej.1_Silent_p.R377R	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	377					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		TTACCGAGTAGCGTCTCCAGT	0.642000														89			19		5.3912e-06	5.69533e-06	1	1	0
MKL2	57496	broad.mit.edu	37	16	14341058	14341058	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14341058C>A	uc010uza.2	+	11	2096	c.1941C>A	c.(1939-1941)tgC>tgA	p.C647*	MKL2_uc002dcg.3_Nonsense_Mutation_p.C647*|MKL2_uc002dcj.3_5'Flank	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	636					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCCTGACTGCTCCAGCTCCA	0.587000														145			20		9.7654e-05	0.000101409	1	1	0
SUPT6H	6830	broad.mit.edu	37	17	27027385	27027385	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:27027385C>T	uc010crt.3	+	35	4853	c.4661C>T	c.(4660-4662)gCc>gTc	p.A1554V	SUPT6H_uc002hby.3_Missense_Mutation_p.A1554V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1554					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCTGTGAATGCCCTGCCTCAG	0.572000														258			65		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45437193	45437193	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45437193G>A	uc001zus.1	+	18	2583	c.2237G>A	c.(2236-2238)cGg>cAg	p.R746Q	DUOX1_uc001zut.1_Missense_Mutation_p.R746Q|DUOX1_uc010bee.1_Missense_Mutation_p.R126Q|DUOX1_uc001zuu.3_5'Flank	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	746					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGGAGCTGCGGGAGCAGGAG	0.597000														211			49		0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31119778	31119778	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31119778A>G	uc001wqm.1	+	8	701	c.677A>G	c.(676-678)gAc>gGc	p.D226G	SCFD1_uc001wqn.1_Missense_Mutation_p.D159G|SCFD1_uc010tpg.1_Missense_Mutation_p.D167G|SCFD1_uc010tph.1_Missense_Mutation_p.D41G|SCFD1_uc010amf.1_Missense_Mutation_p.D41G|SCFD1_uc010tpi.1_Missense_Mutation_p.D134G|SCFD1_uc010amd.1_Missense_Mutation_p.D58G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	226					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CAGAAACTAGACAAGAAACTT	0.294000														34			14		0	0	1	0	0
ACAT1	38	broad.mit.edu	37	11	108014709	108014709	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108014709G>T	uc001pjy.3	+	10	1017	c.941_splice	c.e10-1	p.A314_splice		NM_000019	NP_000010	P24752	THIL_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 1 (ACAT1), nuclear gene encoding mitochondrial protein, mRNA.	314					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	TTTTTAAACAGCATTTGCTGA	0.398000														75			15		2.32078e-09	2.57599e-09	1	1	0
WHAMM	123720	broad.mit.edu	37	15	83478510	83478510	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:83478510G>A	uc002bje.3	+	0	538	c.32G>A	c.(31-33)gGc>gAc	p.G11D		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules (WHAMM), mRNA.	11						ER-Golgi intermediate compartment|Golgi apparatus|cytoplasmic vesicle membrane	actin binding			endometrium(6)|large_intestine(5)|lung(1)|prostate(1)	13						AGCCTGGAGGGCTGGGTGCCG	0.736000														34			8		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48539874	48539874	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48539874G>T	uc010wmm.1	+	6	899	c.795G>T	c.(793-795)caG>caT	p.Q265H	ACSF2_uc002iqu.2_Missense_Mutation_p.Q240H|ACSF2_uc010wml.1_Missense_Mutation_p.Q197H|ACSF2_uc010wmn.1_Missense_Mutation_p.Q227H|ACSF2_uc010wmo.1_Missense_Mutation_p.Q80H	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	240					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCACACGGCAGCATCTGGACC	0.617000														180			33		6.04164e-23	7.46519e-23	1	1	0
PEG3	5178	broad.mit.edu	37	19	57327375	57327375	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57327375G>A	uc002qnu.2	-	6	2786	c.2435C>T	c.(2434-2436)gCt>gTt	p.A812V	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.A783V|PEG3_uc002qnv.2_Missense_Mutation_p.A812V|PEG3_uc002qnw.2_Missense_Mutation_p.A688V|PEG3_uc002qnx.2_Missense_Mutation_p.A686V|PEG3_uc010etr.2_Missense_Mutation_p.A812V	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	812					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D811H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGGTTGATAGCATCGAAGCT	0.468000														202			42		0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631926	90631926	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90631926G>T	uc002box.3	-	3	513	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	IDH2_uc010uqb.2_Missense_Mutation_p.L91M|IDH2_uc010uqc.2_Missense_Mutation_p.L13M	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	143					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GTCCCCCCCAGGATGTTCCGG	0.552000			M		GBM									141			22		2.89027e-11	3.28353e-11	1	1	0
RANBP1	5902	broad.mit.edu	37	22	20112936	20112936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20112936C>T	uc002zro.1	+	3	565	c.416C>T	c.(415-417)gCc>gTc	p.A139V	RANBP1_uc011ahl.1_Missense_Mutation_p.A139V|RANBP1_uc002zrp.3_Missense_Mutation_p.A139V|RANBP1_uc021wlq.1_Non-coding_Transcript	NM_002882	NP_002873	P43487	RANG_HUMAN	Homo sapiens RAN binding protein 1 (RANBP1), mRNA.	139	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					GAGCTGCTGGCCATCCGCTTC	0.632000														29			12		0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634371	122634371	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122634371C>T	uc003efz.1	-	13	2208	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R577Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R635Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R577Q	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	635					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGATCGAGCTCGACACAGGCA	0.622000														114			24		0	0	1	0	0
FAM5C	339479	broad.mit.edu	37	1	190067938	190067938	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:190067938G>A	uc001gse.1	-	7	1743	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	FAM5C_uc010pot.1_Missense_Mutation_p.T402M	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	504						extracellular region		p.T504T(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TCGTCTGTCCGTTTTCTGCAG	0.498000														278			98		0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123601239	123601239	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123601239G>T	uc001pzd.1	-	3	758	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.L120M|ZNF202_uc001pzf.1_Missense_Mutation_p.L120M	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	120	SCAN box.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CCCTCCACCAGCGTCACTGCC	0.582000														225			46		1.86633e-21	2.29124e-21	1	1	0
MOG	4340	broad.mit.edu	37	6	29633971	29633971	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29633971C>T	uc003nnf.3	+	2	708	c.479C>T	c.(478-480)gCg>gTg	p.A160V	MOG_uc003nmy.2_Missense_Mutation_p.A160V|MOG_uc003nna.3_Missense_Mutation_p.A44V|MOG_uc011dlt.2_Missense_Mutation_p.A90V|MOG_uc011dlv.2_Missense_Mutation_p.A44V|MOG_uc011dlu.2_Missense_Mutation_p.A44V|MOG_uc003nne.3_Missense_Mutation_p.A160V|MOG_uc003nng.3_Missense_Mutation_p.A160V|MOG_uc003nni.3_Missense_Mutation_p.A160V|MOG_uc003nnh.3_Missense_Mutation_p.A160V|MOG_uc003nnj.3_Missense_Mutation_p.A160V|MOG_uc003nnk.3_Missense_Mutation_p.A160V	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	160					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.A160V(2)|p.A160A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GTTCTCCTCGCGGTGCTGCCT	0.557000														238			52		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	131976082	131976082	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131976082G>T	uc002tsn.2	+	0	159	c.107G>T	c.(106-108)aGg>aTg	p.R36M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	36							ATP binding										CCCTGCTACAGGGAGAGCGGC	0.567000														480			47		5.13769e-22	6.32237e-22	1	1	0
PHACTR3	116154	broad.mit.edu	37	20	58348387	58348387	+	Missense_Mutation	SNP	C	T	T	rs148776043	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58348387C>T	uc002yau.3	+	5	1272	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	PHACTR3_uc002yat.3_Missense_Mutation_p.R266W|PHACTR3_uc010zzw.2_Missense_Mutation_p.R228W|PHACTR3_uc002yav.3_Missense_Mutation_p.R228W|PHACTR3_uc002yaw.3_Missense_Mutation_p.R228W|PHACTR3_uc002yax.3_Missense_Mutation_p.R158W	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	269						nuclear matrix	actin binding|protein phosphatase inhibitor activity	p.R269L(1)|p.L268F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCTTCCCTCCGGGGCCAGCT	0.647000														217			21		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108703566	108703566	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108703566T>C	uc003dxl.3	-	22	2408	c.2321A>G	c.(2320-2322)aAa>aGa	p.K774R	MORC1_uc011bhn.2_Missense_Mutation_p.K753R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	774					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CACTCACCTTTTCCAGCTAGG	0.338000														39			14		0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417299	70417299	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:70417299C>A	uc002lkw.3	-	8	1823	c.1539G>T	c.(1537-1539)caG>caT	p.Q513H	NETO1_uc002lky.2_Missense_Mutation_p.Q513H	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	513					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACTGACCGCTGGACGGCTT	0.433000														79			18		6.49762e-13	7.53005e-13	1	1	0
EFCAB6	64800	broad.mit.edu	37	22	43950755	43950755	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43950755G>A	uc003bdy.2	-	26	3956	c.3642C>T	c.(3640-3642)gaC>gaT	p.D1214D	EFCAB6_uc003bdz.2_Silent_p.D1062D|EFCAB6_uc010gzi.2_Silent_p.D1062D|EFCAB6_uc010gzj.1_Silent_p.D440D	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1214	EF-hand 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACCTGTTCGTCCGTCAGGA	0.512000														163			39		0	0	1	0	0
TMEM125	128218	broad.mit.edu	37	1	43738921	43738921	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43738921C>A	uc021omm.1	+	0	528	c.528C>A	c.(526-528)tgC>tgA	p.C176*	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Nonsense_Mutation_p.C176*|TMEM125_uc001cir.3_Nonsense_Mutation_p.C176*	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	176						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGACACTGCCCCTCCATCT	0.632000														74			8		1.12685e-05	1.18529e-05	1	1	0
ZNF569	148266	broad.mit.edu	37	19	37916864	37916864	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37916864G>T	uc002ogj.3	-	8	1147	c.215_splice	c.e8-1	p.G72_splice	ZNF569_uc002ogh.3_Intron|ZNF569_uc002ogi.3_Splice_Site_p.G48_splice	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAACGGATAGCCTGTCAAAG	0.438000														351			70		2.79145e-41	3.55109e-41	1	1	0
ZNF510	22869	broad.mit.edu	37	9	99521177	99521177	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99521177T>C	uc004awn.1	-	5	2124	c.1935A>G	c.(1933-1935)atA>atG	p.I645M	ZNF510_uc004awo.1_Missense_Mutation_p.I645M	NM_014930	NP_055745	Q9Y2H8	ZN510_HUMAN	Homo sapiens zinc finger protein 510 (ZNF510), mRNA.	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCCTTTGATGTATTCTGAGGT	0.383000														152			30		0	0	1	0	0
TMEM194A	23306	broad.mit.edu	37	12	57453749	57453749	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57453749C>A	uc001smy.3	-	8	1294	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	TMEM194A_uc001smx.3_Missense_Mutation_p.Q343H|TMEM194A_uc010sra.2_Missense_Mutation_p.Q157H	NM_001130963	NP_001124435	O14524	T194A_HUMAN	Homo sapiens transmembrane protein 194A (TMEM194A), transcript variant 1, mRNA.	416						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGATTTCATCCTGGGCAATAA	0.463000														56			17		2.48551e-13	2.89355e-13	1	1	0
CACNA2D3	55799	broad.mit.edu	37	3	55021769	55021769	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:55021769C>T	uc003dhf.3	+	30	2727	c.2679C>T	c.(2677-2679)ggC>ggT	p.G893G	CACNA2D3_uc003dhg.1_Silent_p.G799G|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	893						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAACAATGGGCTCCTTTAAAA	0.398000														39			8		0	0	1	0	0
TNFSF12-TNFSF13	407977	broad.mit.edu	37	17	7460175	7460175	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7460175G>A	uc002ghi.1	+	5	550	c.454G>A	c.(454-456)Gag>Aag	p.E152K	TNFSF12-TNFSF13_uc002ghh.3_Non-coding_Transcript|TNFSF12-TNFSF13_uc002ghg.3_Missense_Mutation_p.E152K|TNFSF12-TNFSF13_uc002ghj.2_5'Flank|TNFSF12-TNFSF13_uc002ghk.2_5'Flank|TNFSF12-TNFSF13_uc021tpb.1_5'Flank|TNFSF12-TNFSF13_uc002ghl.2_5'Flank|TNFSF12-TNFSF13_uc010vua.1_5'Flank|TNFSF12-TNFSF13_uc010cmk.2_5'Flank	NM_172089	NP_742086	Q8IZK7	Q8IZK7_HUMAN	Homo sapiens TNFSF12-TNFSF13 readthrough (TNFSF12-TNFSF13), mRNA.	152					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CCAGATCGGGGAGTTTATAGT	0.582000														69			7		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504912	113504912	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113504912G>A	uc003ynu.3	-	31	5243	c.5084_splice	c.e31-1	p.A1695_splice	CSMD3_uc003yns.3_Splice_Site_p.A967_splice|CSMD3_uc003ynt.3_Splice_Site_p.A1655_splice|CSMD3_uc011lhx.2_Splice_Site_p.A1591_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1695	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCGCAGTTTTGCTGTAAAACA	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				104			22		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111833	197111833	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197111833C>T	uc001gtu.3	-	2	1806	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	ASPM_uc001gtv.3_Missense_Mutation_p.A517T|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	517					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATCTTTTTGCTTTTGGTTTA	0.343000														177			26		0	0	1	0	0
C14orf149	112849	broad.mit.edu	37	14	59950867	59950867	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59950867C>A	uc001xee.1	-	0	207	c.168G>T	c.(166-168)caG>caT	p.Q56H	C14orf149_uc010trx.1_Missense_Mutation_p.Q56H|JKAMP_uc001xef.4_5'Flank|JKAMP_uc001xeh.4_5'Flank|JKAMP_uc001xeg.4_5'Flank|JKAMP_uc010try.2_5'Flank|JKAMP_uc001xei.4_5'Flank	NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	56							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GGTCAAGGTGCTGGCGCATGT	0.701000											OREG0022712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			9		0.0477658	0.0480153	1	1	0
SULT1A2	6799	broad.mit.edu	37	16	28604766	28604766	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28604766C>A	uc002dqg.2	-	4	847	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	NPIPL1_uc010vct.2_Intron|SULT1A2_uc002dqh.2_Nonsense_Mutation_p.E166*	NM_177528	NP_803564	P50226	ST1A2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 (SULT1A2), transcript variant 2, mRNA.	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						AGCCCACCTTCTCCAGCCATG	0.572000														174			30		6.38683e-12	7.32513e-12	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18630049	18630049	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18630049G>A	uc003sui.3	+	2	396	c.355G>A	c.(355-357)Gag>Aag	p.E119K	HDAC9_uc003sue.3_Missense_Mutation_p.E116K|HDAC9_uc011jyd.2_Missense_Mutation_p.E116K|HDAC9_uc003suh.3_Missense_Mutation_p.E116K|HDAC9_uc003suj.3_Missense_Mutation_p.E119K|HDAC9_uc011jya.2_Missense_Mutation_p.E158K|HDAC9_uc003sua.1_Missense_Mutation_p.E138K|HDAC9_uc003sud.2_Missense_Mutation_p.E116K|HDAC9_uc011jyc.2_Missense_Mutation_p.E119K|HDAC9_uc011jyb.2_Missense_Mutation_p.E116K|HDAC9_uc003suf.2_Missense_Mutation_p.E147K|HDAC9_uc010kud.2_Missense_Mutation_p.E119K|HDAC9_uc011jye.2_Missense_Mutation_p.E88K|HDAC9_uc011jyf.2_Missense_Mutation_p.E85K|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	116					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ACAGGAAGTAGAGAGGCATCG	0.483000														16			5		0	0	1	0	0
C1QTNF9B	387911	broad.mit.edu	37	13	24465977	24465977	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:24465977C>T	uc010tcw.2	-	2	473	c.453G>A	c.(451-453)ccG>ccA	p.P151P	MIPEP_uc001uox.4_5'Flank|C1QTNF9B-AS1_uc001uoy.3_Silent_p.P77P|C1QTNF9B-AS1_uc009zzx.3_Silent_p.P86P|C1QTNF9B_uc010tcv.1_Intron|C1QTNF9B_uc001uoz.1_Intron|C1QTNF9B_uc010tcx.2_Silent_p.P151P	NM_001007537	NP_001007538	B2RNN3	C1T9B_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9B (C1QTNF9B), mRNA.	151	Collagen-like 2.					collagen		p.P151P(2)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						CCATGGGGCCCGGTAAACCAG	0.642000														125			12		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907339	153907339	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153907339G>T	uc001fdd.1	-	17	3071	c.2670C>A	c.(2668-2670)ccC>ccA	p.P890P		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	890	Gln-rich.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTCTCTCAAGGGCTGGCGGA	0.632000														263			49		7.34454e-26	9.16519e-26	1	1	0
NOMO1	23420	broad.mit.edu	37	16	14989432	14989432	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14989432C>T	uc002dcv.3	+	30	3665	c.3599C>T	c.(3598-3600)gCa>gTa	p.A1200V		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	1200						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTCGGCCAGGCAGCCTCTGAC	0.542000														825			66		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98430750	98430750	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98430750G>A	uc002syh.4	-	13	1623	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	465						integral to membrane		p.A352V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATGAGGATCGCAAAACTGAA	0.408000														77			19		0	0	1	0	0
TSPAN10	83882	broad.mit.edu	37	17	79612028	79612028	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612028G>T	uc010die.3	+	1	153	c.47G>T	c.(46-48)gGc>gTc	p.G16V	TSPAN10_uc021ufc.1_Missense_Mutation_p.G54V|TSPAN10_uc002kaw.2_Missense_Mutation_p.G16V|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	16						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAAACTGCAGGCCAGAAGCCC	0.642000														100			15		0.000308642	0.000318063	1	1	0
EPHA2	1969	broad.mit.edu	37	1	16456084	16456084	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16456084G>A	uc001aya.2	-	16	2825	c.2670_splice	c.e16-1	p.R890_splice		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	890	Mediates interaction with ARHGEF16 and ELMO2.|Negatively regulates interaction with ARHGEF16.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GGATAGACACGCtgcaacagg	0.652000														54			9		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40528415	40528415	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40528415C>T	uc011azb.2	+	5	841	c.534C>T	c.(532-534)gaC>gaT	p.D178D	ZNF619_uc011aza.2_Silent_p.D80D|ZNF619_uc011azc.2_Silent_p.D138D|ZNF619_uc011azd.2_Silent_p.D94D|ZNF619_uc003ckj.3_Silent_p.D122D|ZNF619_uc021wwh.1_Silent_p.D129D	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGCACCCTGACTTCAAGGACA	0.443000														97			20		0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100998847	100998847	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100998847G>A	uc001pgh.2	-	0	1698	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	PGR_uc001pgi.2_Missense_Mutation_p.R319C|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	319	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGCCGAGTGCGGGCTGCCAAT	0.687000														85			24		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145007091	145007091	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145007091T>G	uc003zaf.1	-	13	2188	c.2018A>C	c.(2017-2019)cAg>cCg	p.Q673P	PLEC_uc003zab.1_Missense_Mutation_p.Q536P|PLEC_uc003zac.1_Missense_Mutation_p.Q540P|PLEC_uc003zad.2_Missense_Mutation_p.Q536P|PLEC_uc003zae.1_Missense_Mutation_p.Q504P|PLEC_uc003zag.1_Missense_Mutation_p.Q514P|PLEC_uc003zah.2_Missense_Mutation_p.Q522P|PLEC_uc003zaj.2_Missense_Mutation_p.Q563P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	673	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACACGGTGCTGGTTCTCCTC	0.672000														81			13		0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74834768	74834768	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74834768G>T	uc001dge.2	+	15	1754	c.1687G>T	c.(1687-1689)Gaa>Taa	p.E563*	FPGT-TNNI3K_uc001dgc.2_Nonsense_Mutation_p.E563*|FPGT-TNNI3K_uc001dgd.3_Nonsense_Mutation_p.E563*|FPGT-TNNI3K_uc001dgf.2_Nonsense_Mutation_p.E462*	NM_001112808	NP_001106279	Q59H18	TNI3K_HUMAN	Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA.	462	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TCAGCTCTCAGAAATTGAGTT	0.328000														35			15		7.93312e-07	8.47869e-07	1	1	0
MYH13	8735	broad.mit.edu	37	17	10212991	10212991	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10212991G>A	uc002gmk.1	-	33	4903	c.4813C>T	c.(4813-4815)Ctg>Ttg	p.L1605L		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1605					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCAGCATCCAGCACGCTCTGC	0.547000														26			4		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44184228	44184228	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44184228A>C	uc001ztl.3	-	7	856	c.679T>G	c.(679-681)Ttt>Gtt	p.F227V	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.F138V|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Intron	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		ACAAACCCAAAAGGAGTGAAG	0.448000														82			15		0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720749	95720749	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95720749G>A	uc009xuj.2	-	0	924	c.405C>T	c.(403-405)gaC>gaT	p.D135D						Homo sapiens PIP5K1A and PSMD4-like, pseudogene (PIPSL), non-coding RNA.																		TGAACTCATCGTCGCTGGACA	0.488000														111			29		0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444251	5444251	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5444251T>C	uc010qzd.2	+	0	911	c.821T>C	c.(820-822)gTc>gCc	p.V274A	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCCACTGGTCCATGTTATC	0.473000														152			13		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39058490	39058490	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39058490C>A	uc002oit.3	+	92	13722	c.13592C>A	c.(13591-13593)cCt>cAt	p.P4531H	RYR1_uc002oiu.3_Missense_Mutation_p.P4526H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4531	Pro-rich.				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)	CCCTCACCCCCTCCAAAGAAG	0.587000														130			32		1.30897e-18	1.58338e-18	1	1	0
SS18	6760	broad.mit.edu	37	18	23612494	23612494	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:23612494G>A	uc002kvm.3	-	9	1177	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	SS18_uc002kvn.3_Missense_Mutation_p.P336S|SS18_uc010xbf.2_Missense_Mutation_p.P285S|SS18_uc010xbg.2_Missense_Mutation_p.P284S|SS18_uc010xbh.2_Missense_Mutation_p.P284S|SS18_uc010xbi.2_Missense_Mutation_p.P344S	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	367	2 X 13 AA imperfect tandem repeats.|Gln-rich.	Breakpoint for translocation to form the SSXT-SSX1 fusion protein (rare).			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)					CCCTGTGAAGGACCTGAAAAT	0.453000			T	"""SSX1,  SSX2"""	synovial sarcoma									124			26		0	0	1	0	0
GLT25D1	79709	broad.mit.edu	37	19	17692040	17692040	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17692040G>A	uc002nhc.1	+	11	1668	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E		NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	552					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						TCTCTGTGGAGCCGCTGCTCA	0.592000														444			107		0	0	1	0	0
METTL2A	339175	broad.mit.edu	37	17	60522267	60522267	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60522267C>T	uc002izv.2	+	6	897	c.879C>T	c.(877-879)taC>taT	p.Y293Y	METTL2A_uc002izw.3_Silent_p.Y157Y	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	Homo sapiens methyltransferase like 2A (METTL2A), mRNA.	293							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGCGAGATTACGGCCGCTATG	0.488000														82			12		0	0	1	0	0
CNPPD1	27013	broad.mit.edu	37	2	220037375	220037375	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220037375G>T	uc002vju.4	-	7	1318	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	NHEJ1_uc002vjq.4_5'Flank|SLC23A3_uc010zkr.2_5'Flank|SLC23A3_uc010zks.2_5'Flank|SLC23A3_uc010fwb.3_5'Flank|CNPPD1_uc002vjv.3_Missense_Mutation_p.P389H	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	389	Pro-rich.				regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						ACATTGCTGAGGCTGAGGAAG	0.572000														145			37		6.03168e-27	7.55028e-27	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208224623	208224623	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208224623C>T	uc001hgz.3	-	15	3897	c.3139G>A	c.(3139-3141)Gag>Aag	p.E1047K		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1047	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CACTCTGGCTCGATGCGCTGG	0.597000														107			16		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45805679	45805679	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45805679G>A	uc002pbb.2	+	16	2301	c.1970G>A	c.(1969-1971)cGa>cAa	p.R657Q	MARK4_uc002pba.2_Missense_Mutation_p.D684N	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	657					microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGGCTGCTCCGATTCCCCTGG	0.652000														463			87		0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39620653	39620653	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:39620653T>G	uc002lap.3	+	18	2109	c.2051T>G	c.(2050-2052)tTt>tGt	p.F684C	PIK3C3_uc010xcl.2_Missense_Mutation_p.F621C|PIK3C3_uc002laq.3_Missense_Mutation_p.F169C|PIK3C3_uc002lar.1_Missense_Mutation_p.F68C	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA.	684	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTCATGCAGTTTATCCAGTCA	0.358000										TSP Lung(28;0.18)				91			24		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30212055	30212055	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30212055G>T	uc003agr.3	-	5	693	c.549C>A	c.(547-549)atC>atA	p.I183I	ASCC2_uc011akr.2_Silent_p.I107I|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			GCTGTGTAAAGATGTTTCCTA	0.512000														15			3		6.4e-05	6.6609e-05	1	1	0
ADH6	130	broad.mit.edu	37	4	100128629	100128629	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100128629C>T	uc003huo.2	-	6	1032	c.938G>A	c.(937-939)cGt>cAt	p.R313H	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_Missense_Mutation_p.R104H|ADH6_uc003hup.4_Missense_Mutation_p.R313H|ADH6_uc010ile.3_Intron	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	313					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CTTCAAAGAACGTCCTGAGAA	0.483000														134			29		0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90166933	90166933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90166933C>T	uc002boe.3	+	19	3392	c.3392C>T	c.(3391-3393)cCg>cTg	p.P1131L	C15orf42_uc021sug.1_Missense_Mutation_p.P1130L	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1131					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCACAAACTCCGTTGTATACT	0.448000														282			69		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131919805	131919805	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131919805C>T	uc003qcs.1	-	18	2491	c.2317G>A	c.(2317-2319)Gaa>Aaa	p.E773K	MED23_uc003qcq.3_Missense_Mutation_p.E779K|MED23_uc011eca.1_Missense_Mutation_p.E414K|MED23_uc003qct.1_Missense_Mutation_p.E779K	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	773					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		ATGTCGTTTTCGTTGCTCATT	0.393000														79			17		0	0	1	0	0
SEC61A2	55176	broad.mit.edu	37	10	12197864	12197864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12197864G>A	uc001ile.2	+	6	697	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SEC61A2_uc010qbq.1_Missense_Mutation_p.A162T|SEC61A2_uc001ilf.4_Non-coding_Transcript|SEC61A2_uc001ilh.4_Non-coding_Transcript|SEC61A2_uc001ilg.4_Missense_Mutation_p.A184T	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN	Homo sapiens Sec61 alpha 2 subunit (S. cerevisiae) (SEC61A2), transcript variant 1, mRNA.	184						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CCTCTTTATTGCCACCAACAT	0.498000														308			62		0	0	1	0	0
IFT52	51098	broad.mit.edu	37	20	42233661	42233661	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42233661G>A	uc002xkw.3	+	5	555	c.433G>A	c.(433-435)Gga>Aga	p.G145R	IFT52_uc010zwi.1_Non-coding_Transcript|IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.G145R	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	145						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCGAGCTGCAGGAAAGGCTGT	0.388000														60			16		0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13004378	13004378	+	Missense_Mutation	SNP	C	T	T	rs139851890		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13004378C>T	uc002mvq.3	+	5	493	c.416C>T	c.(415-417)tCg>tTg	p.S139L	GCDH_uc010xms.2_Missense_Mutation_p.S106L|GCDH_uc002mvp.3_Missense_Mutation_p.S139L|GCDH_uc010xmt.2_5'UTR|GCDH_uc010xmu.2_Missense_Mutation_p.S95L	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	139	Substrate binding.		S -> L (in GA1).		lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GGCTACAGGTCGGCGATGAGT	0.622000														201			19		0	0	1	0	0
CD86	942	broad.mit.edu	37	3	121810499	121810499	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121810499T>C	uc003eet.3	+	2	192	c.64_splice	c.e2+2	p.G22_splice	CD86_uc011bjo.2_Intron|CD86_uc011bjp.2_Splice_Site_p.A22_splice|CD86_uc003eeu.3_Splice_Site_p.G16_splice|CD86_uc021xcz.1_Splice_Site_p.G16_splice	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	22					T cell costimulation|interspecies interaction between organisms|positive regulation of T-helper 2 cell differentiation|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of transcription, DNA-dependent		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TGCTCTCTGGTAAGAACCTTT	0.438000														295			63		0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757772	116757772	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116757772C>A	uc011ebg.2	+	5	2297	c.2198C>A	c.(2197-2199)gCt>gAt	p.A733D	DSE_uc003pws.3_Missense_Mutation_p.A714D|DSE_uc003pwt.3_Missense_Mutation_p.A714D|DSE_uc003pwu.3_Missense_Mutation_p.A381D	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	714					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAGGTCATTGCTGATCGTCAC	0.502000														172			35		9.78485e-24	1.21317e-23	1	1	0
MTFR1	9650	broad.mit.edu	37	8	66619263	66619263	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:66619263C>T	uc011lep.2	+	5	748	c.536C>T	c.(535-537)aCa>aTa	p.T179I	MTFR1_uc003xvm.2_Missense_Mutation_p.T179I|MTFR1_uc003xvn.2_Missense_Mutation_p.T146I	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	179						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTCTACCACATTTGGTACC	0.438000														90			12		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	23847551	23847551	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23847551C>T	uc002dmd.3	+	0	252	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	PRKCB_uc002dme.3_Missense_Mutation_p.R19C	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	19					B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GAGCACCGTGCGCTTCGCCCG	0.706000														132			39		0	0	1	0	0
TMEM59L	25789	broad.mit.edu	37	19	18724703	18724703	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18724703G>A	uc010ebu.1	+	1	280	c.193G>A	c.(193-195)Gag>Aag	p.E65K	TMEM59L_uc002njy.4_Missense_Mutation_p.E65K	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	65						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						GGGCGCCTCCGAGTCTCCCTA	0.672000														200			51		0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815518	23815518	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23815518A>T	uc003gqs.3	-	7	1708	c.1588T>A	c.(1588-1590)Tcc>Acc	p.S530T	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	530					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AATGAATAGGATTGCGTGCCA	0.413000														175			36		0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33034281	33034281	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33034281C>T	uc003zsd.1	+	5	894	c.711C>T	c.(709-711)ggC>ggT	p.G237G	DNAJA1_uc011lnt.1_Silent_p.G80G|DNAJA1_uc003zse.1_Silent_p.G237G	NM_001539	NP_001530	P31689	DNJA1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 1 (DNAJA1), mRNA.	237					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		TGGAGCCAGGCGATATTATCA	0.368000														53			5		0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69087861	69087861	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:69087861C>A	uc011bfx.2	-	7	2261	c.2014G>T	c.(2014-2016)Gat>Tat	p.D672Y	TMF1_uc003dnn.3_Missense_Mutation_p.D669Y	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	669					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGTGAAGATCAGTAAGTTCT	0.358000														127			28		4.59853e-10	5.14677e-10	1	1	0
C7orf25	79020	broad.mit.edu	37	7	42950303	42950303	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42950303C>T	uc003thx.4	-	1	856	c.371G>A	c.(370-372)aGc>aAc	p.S124N	C7orf25_uc010kxq.3_Missense_Mutation_p.S66N|C7orf25_uc010kxr.3_Missense_Mutation_p.S124N|C7orf25_uc022ace.1_Missense_Mutation_p.S66N	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	66								p.S66N(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TAGGTTAGTGCTCTGTAAATG	0.403000														209			48		0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324922	9324922	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9324922C>T	uc002mla.2	-	0	626	c.592G>A	c.(592-594)Gtc>Atc	p.V198I		NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						ACATACAAGACAATGTTATTG	0.522000														158			33		0	0	1	0	0
MTF1	4520	broad.mit.edu	37	1	38287880	38287880	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38287880G>T	uc001cce.1	-	8	1821	c.1680C>A	c.(1678-1680)atC>atA	p.I560I	MTF1_uc009vvj.1_Silent_p.I251I	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	560						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGGACTGCAGGATAGCTGTGT	0.473000														78			16		3.35478e-16	3.99472e-16	1	1	0
DMC1	11144	broad.mit.edu	37	22	38933650	38933650	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38933650G>A	uc003avz.1	-	11	958	c.783C>T	c.(781-783)aaC>aaT	p.N261N	DMC1_uc011anv.1_Silent_p.N206N	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	261					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAACAGCCACGTTATATTCTG	0.318000								Homologous recombination						90			15		0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75182880	75182880	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75182880C>T	uc003uds.2	-	21	2212	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	HIP1_uc011kfz.2_Missense_Mutation_p.E723K	NM_005338	NP_005329	O00291	HIP1_HUMAN	Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA.	723					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTACAGGCCTCGGTCAGTGCT	0.562000			T	PDGFRB	CMML									108			17		0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633021	79633021	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633021C>T	uc002ffm.3	-	0	1602	c.779G>A	c.(778-780)cGc>cAc	p.R260H	MAF_uc002ffn.3_Missense_Mutation_p.R260H	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	260	Represses ARE-mediated transcription.				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTCGGAGAAGCGGTCGTCGAA	0.766000			T	IGH@	MM									33			13		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191840588	191840588	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191840588G>A	uc010fse.2	-	21	2517	c.2085C>T	c.(2083-2085)ggC>ggT	p.G695G	STAT1_uc021vue.1_Silent_p.G507G|STAT1_uc002usj.2_Silent_p.G695G|STAT1_uc002usk.2_Silent_p.G695G|STAT1_uc002usl.2_Silent_p.G697G	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	695					I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TTCCTTTAGGGCCATCAAGTT	0.423000														45			9		0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104971328	104971328	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104971328A>G	uc001pir.1	-	1	203	c.186T>C	c.(184-186)atT>atC	p.I62I	CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron	NM_001007232	NP_001007233	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA.	62	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CCCCTTTCCGAATAACAGAGT	0.473000														230			21		0	0	1	0	0
ERF	2077	broad.mit.edu	37	19	42753023	42753023	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42753023C>A	uc002ote.4	-	3	1399	c.1241G>T	c.(1240-1242)gGg>gTg	p.G414V	ERF_uc002otd.4_Missense_Mutation_p.G145V	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	414					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GGCTAGCGCCCCTGCCCCCTC	0.692000														303			78		1.1397e-45	1.4524e-45	1	1	0
SASH1	23328	broad.mit.edu	37	6	148852683	148852683	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148852683C>A	uc003qme.1	+	12	1925	c.1450C>A	c.(1450-1452)Cct>Act	p.P484T	SASH1_uc011eeb.1_Missense_Mutation_p.P245T|SASH1_uc003qmf.1_Intron	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	484							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TGATGGAATGCCTGGCTCCCC	0.537000														114			8		0.0381472	0.038366	1	1	0
CAMK4	814	broad.mit.edu	37	5	110818547	110818547	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110818547C>T	uc003kpf.3	+	9	1128	c.893C>T	c.(892-894)cCg>cTg	p.P298L	CAMK4_uc010jbv.3_Missense_Mutation_p.P101L|CAMK4_uc003kpg.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	298	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTCCAGCATCCGTGGGTCACA	0.408000														113			26		0	0	1	0	0
PTPN14	5784	broad.mit.edu	37	1	214557227	214557227	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214557227C>T	uc001hkk.2	-	12	2624	c.1971G>A	c.(1969-1971)acG>acA	p.T657T	PTPN14_uc021piy.1_Silent_p.T421T|PTPN14_uc010pty.2_Silent_p.T558T	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	657					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCGACTTGAGCGTCATGGCCT	0.682000														113			26		0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112705591	112705591	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112705591G>A	uc004bei.2	+	6	1314	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	PALM2-AKAP2_uc004beg.3_Silent_p.P342P|PALM2-AKAP2_uc004beh.4_Silent_p.P374P|PALM2-AKAP2_uc004bej.4_Intron|PALM2-AKAP2_uc004bek.4_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCGGGAGGCCGGTCTCAGACA	0.547000														190			36		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32561798	32561798	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32561798G>A	uc001wrl.3	+	1	2162	c.1923G>A	c.(1921-1923)tcG>tcA	p.S641S	ARHGAP5_uc001wrm.3_Silent_p.S641S|ARHGAP5_uc001wrn.3_Silent_p.S641S|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	641					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATGCCAAATCGCCTTACTTTT	0.388000														204			39		0	0	1	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407154	38407154	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38407154C>A	uc003jlc.2	+	7	1399	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	EGFLAM_uc003jlb.2_Silent_p.L351L|EGFLAM_uc003jle.2_Silent_p.L117L|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	351	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAAACTCTCTGCTCTGCTG	0.557000														133			7		1.06961e-07	1.15953e-07	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140811072	140811072	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811072C>T	uc003lkt.2	+	0	915	c.746C>T	c.(745-747)gCg>gTg	p.A249V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.A249V	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248H(1)|p.R248R(1)		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)			GAGTACCGCGCGAGCGTTCCG	0.637000														229			10		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79667816	79667816	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79667816C>T	uc002kbg.3	+	19	2243	c.2108C>T	c.(2107-2109)tCc>tTc	p.S703F	SLC25A10_uc002kbh.2_5'Flank|SLC25A10_uc010wut.2_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	703	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGTCAGTCTCCATGGGCTAC	0.642000														96			29		0	0	1	0	0
FBXL17	64839	broad.mit.edu	37	5	107216798	107216798	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:107216798G>A	uc011cvc.2	-	7	2312	c.1905C>T	c.(1903-1905)gcC>gcT	p.A635A	FBXL17_uc003kon.4_Silent_p.A237A	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	635										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		CAATCAGGGTGGCTCCTTGGT	0.453000														164			10		0	0	1	0	0
RAB32	10981	broad.mit.edu	37	6	146865053	146865053	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146865053G>A	uc003qln.1	+	0	226	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_006834	NP_006825	Q13637	RAB32_HUMAN	Homo sapiens RAB32, member RAS oncogene family (RAB32), mRNA.	16					protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		ggcggccgccgccccagcgcc	0.741000														47			17		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8448851	8448851	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8448851C>T	uc002glm.3	-	12	1442	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	MYH10_uc002gll.3_Missense_Mutation_p.R439H|MYH10_uc010cnx.3_Missense_Mutation_p.R448H	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	439	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTATTGATGCGATGAACGAG	0.428000														126			28		0	0	1	0	0
POLE2	5427	broad.mit.edu	37	14	50118009	50118009	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50118009C>T	uc001wwu.3	-	15	1475	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Missense_Mutation_p.S147N|POLE2_uc021rsr.1_Missense_Mutation_p.S407N|POLE2_uc010ano.3_Missense_Mutation_p.S433N	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	433					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					AGCCAAATTGCTGCTAGGAAA	0.318000														35			9		0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36360568	36360568	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36360568G>T	uc002oce.3	+	2	286	c.148_splice	c.e2-1	p.A50_splice	APLP1_uc010xsz.2_Splice_Site_p.A11_splice|APLP1_uc002ocf.3_Splice_Site_p.A50_splice|APLP1_uc002ocg.3_Intron|APLP1_uc010xta.2_Missense_Mutation_p.Q43H	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	50					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTCCATCCAGGCCCCGGGGT	0.692000														70			25		9.80776e-20	1.19282e-19	1	1	0
ARFGEF1	10565	broad.mit.edu	37	8	68183949	68183949	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68183949C>A	uc003xxo.2	-	9	1950	c.1560G>T	c.(1558-1560)aaG>aaT	p.K520N		NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	520					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAATTTGCATCTTCAGATGTG	0.318000														30			9		0.000274275	0.000282808	1	1	0
NCDN	23154	broad.mit.edu	37	1	36028103	36028103	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36028103G>A	uc001bza.3	+	4	1381	c.1254G>A	c.(1252-1254)ctG>ctA	p.L418L	NCDN_uc001bzb.3_Silent_p.L418L|NCDN_uc001bzc.3_Silent_p.L401L	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	418					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCAGCTGCTGCCCTTCCTCG	0.632000														110			14		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105164918	105164918	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105164918C>A	uc001kwy.1	+	4	629	c.542C>A	c.(541-543)gCt>gAt	p.A181D		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	181					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTGCTGAGTGCTGAGGCCCTG	0.562000														173			27		1.77063e-15	2.09702e-15	1	1	0
LIMD1	8994	broad.mit.edu	37	3	45636972	45636972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45636972G>A	uc003coq.3	+	0	650	c.601G>A	c.(601-603)Ggc>Agc	p.G201S		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	201					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCCCAGCATCGGCCTGAGTGT	0.597000														148			27		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726682	12726682	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726682C>T	uc001auf.3	+	3	1160	c.1160C>T	c.(1159-1161)gCt>gTt	p.A387V		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	387						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		GATAAGAAGGCTCTCTCTTTC	0.478000														192			25		0	0	1	0	0
TMEM179	388021	broad.mit.edu	37	14	105063451	105063451	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105063451C>T	uc001yox.1	-	1	338	c.319G>A	c.(319-321)Gcc>Acc	p.A107T		NM_207379	NP_997262	Q6ZVK1	T179A_HUMAN	Homo sapiens transmembrane protein 179 (TMEM179), mRNA.	107						integral to membrane				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		TTCAGGAAGGCGGAGAAGAAG	0.632000														19			6		0	0	1	0	0
BAZ2B	29994	broad.mit.edu	37	2	160287620	160287620	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160287620C>A	uc002uao.3	-	9	2353	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y	BAZ2B_uc002uap.3_Missense_Mutation_p.D648Y|BAZ2B_uc002uaq.1_Intron|BAZ2B_uc002uar.1_Missense_Mutation_p.D223Y	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	650	Asp/Glu-rich (acidic).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCATCATCATCTTCTTCTTCT	0.323000														55			22		2.37509e-13	2.76693e-13	1	1	0
MYADM	91663	broad.mit.edu	37	19	54377236	54377236	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54377236C>T	uc002qcm.3	+	2	601	c.453C>T	c.(451-453)taC>taT	p.Y151Y	MYADM_uc002qcl.3_Silent_p.Y151Y|MYADM_uc002qcn.3_Silent_p.Y151Y|MYADM_uc002qco.3_Silent_p.Y151Y|MYADM_uc002qcp.3_Silent_p.Y151Y|MYADM_uc021vbb.1_Silent_p.Y151Y	NM_138373	NP_612382	Q96S97	MYADM_HUMAN	Homo sapiens myeloid-associated differentiation marker (MYADM), transcript variant 2, mRNA.	151	MARVEL 1.					integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.0488)		GTGTGGCTTACGCCACCGAAG	0.652000														205			42		0	0	1	0	0
DNAJC19	131118	broad.mit.edu	37	3	180706014	180706014	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180706014T>C	uc003fkt.3	-	1	179	c.7A>G	c.(7-9)Agt>Ggt	p.S3G	DNAJC19_uc021xhv.1_5'UTR|DNAJC19_uc021xhw.1_Intron|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	3					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			ACCACTGTACTGGCCTGGTAA	0.448000														55			9		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158870179	158870179	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158870179C>T	uc003qrf.3	+	3	2052	c.695C>T	c.(694-696)aCg>aTg	p.T232M	TULP4_uc011efo.2_Missense_Mutation_p.T232M|TULP4_uc003qrg.3_Missense_Mutation_p.T232M	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	232					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGAGCGACACGGACTCAGAT	0.577000														174			39		0	0	1	0	0
SPRED2	200734	broad.mit.edu	37	2	65540683	65540683	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65540683G>A	uc002sdr.4	-	5	1744	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C	SPRED2_uc010fcw.3_Silent_p.C400C	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	403	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						ACATCACTCCGCAGTGGTAGC	0.607000														173			29		0	0	1	0	0
NUDT19	390916	broad.mit.edu	37	19	33183175	33183175	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33183175G>A	uc010edf.3	+	0	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	103	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CTTTCCCGTCGCTGCCCGACA	0.721000														129			21		0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774877	14774877	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:14774877G>A	uc021ved.1	+	0	774	c.774G>A	c.(772-774)agG>agA	p.R258R	FAM84A_uc002rbz.2_Silent_p.R258R|AX747684_uc002rca.1_5'Flank	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	Homo sapiens family with sequence similarity 84, member A (FAM84A), mRNA.	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			ACACCGCCAGGTTTCACAGCC	0.657000														60			22		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79934591	79934591	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79934591T>C	uc004akr.3	+	42	5675	c.5415_splice	c.e42+2	p.K1805_splice	VPS13A_uc004akp.4_Splice_Site_p.K1805_splice|VPS13A_uc004akq.4_Splice_Site_p.K1805_splice|VPS13A_uc004aks.3_Splice_Site_p.K1766_splice|VPS13A_uc004akt.3_Splice_Site_p.K145_splice	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1805					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						GGTATCAAGGtatatctatat	0.289000														24			3		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86822881	86822881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86822881G>A	uc002blz.1	+	14	2029	c.1949G>A	c.(1948-1950)cGc>cAc	p.R650H	AGBL1_uc002bma.1_Missense_Mutation_p.R381H|AGBL1_uc002bmb.1_Missense_Mutation_p.R344H	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	650					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						AATCATTATCGCCAGAGTACA	0.507000														116			20		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127339940	127339940	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127339940C>T	uc003ejp.3	+	14	2530	c.2473C>T	c.(2473-2475)Cgg>Tgg	p.R825W	MCM2_uc011bkm.2_Missense_Mutation_p.R695W|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Missense_Mutation_p.R778W	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	825					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding	p.R825W(2)		ovary(3)|skin(2)|stomach(1)	6						CCTTTCATTCCGGCGTGACAA	0.542000														322			78		0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310687	124310687	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124310687T>G	uc010sal.2	-	0	295	c.295A>C	c.(295-297)Act>Cct	p.T99P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAGAGCTGAGTCATACACCCT	0.438000														115			12		0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55987321	55987321	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:55987321C>A	uc003has.3	-	1	406	c.104G>T	c.(103-105)aGc>aTc	p.S35I	KDR_uc003hat.1_Missense_Mutation_p.S35I|KDR_uc011bzx.2_Missense_Mutation_p.S35I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	35					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTTTTGTATGCTGAGCCTGGG	0.348000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				48			7		0.00307968	0.00313564	1	1	0
POGZ	23126	broad.mit.edu	37	1	151377699	151377699	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:151377699G>A	uc001eyd.2	-	18	4127	c.3812C>T	c.(3811-3813)aCt>aTt	p.T1271I	POGZ_uc021oyq.1_Missense_Mutation_p.T1218I|POGZ_uc010pdb.2_Missense_Mutation_p.T1262I|POGZ_uc010pdc.2_Missense_Mutation_p.T1209I|POGZ_uc009wmv.2_Missense_Mutation_p.T1176I|POGZ_uc001eyf.2_Missense_Mutation_p.T1227I|POGZ_uc010pdd.2_Missense_Mutation_p.T762I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	1271	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCTTGACAGTTCTTTTGAT	0.478000														340			65		0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1390839	1390839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:1390839G>A	uc003mtm.3	+	0	771	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	219					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCGGGGCGTCGCTGCTGCCCC	0.746000														98			16		0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50685801	50685801	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:50685801C>T	uc003tpi.2	-	6	859	c.813G>A	c.(811-813)caG>caA	p.Q271Q	GRB10_uc003tph.3_Silent_p.Q213Q|GRB10_uc003tpj.2_Silent_p.Q271Q|GRB10_uc003tpk.2_Silent_p.Q271Q|GRB10_uc010kzb.2_Silent_p.Q213Q|GRB10_uc003tpl.2_Silent_p.Q265Q|GRB10_uc003tpm.2_Silent_p.Q213Q	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	271					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CATTTGACTGCTGGCACCAAG	0.403000									Russell-Silver syndrome					61			17		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18622252	18622252	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18622252C>T	uc003zne.4	+	4	638	c.486C>T	c.(484-486)tgC>tgT	p.C162C	ADAMTSL1_uc003znb.3_Silent_p.C162C|ADAMTSL1_uc003znc.4_Silent_p.C162C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	162						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTGTTGGCTGCGATCACCAGC	0.512000														117			20		0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23932601	23932601	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:23932601G>A	uc001uon.2	-	6	1066	c.477C>T	c.(475-477)taC>taT	p.Y159Y	SACS_uc001uoo.2_Silent_p.Y12Y|SACS_uc001uop.1_5'Flank|SACS_uc001uoq.1_Silent_p.Y12Y	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	159					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCGCGTTGTTGTACACATAGA	0.453000														151			15		0	0	1	0	0
KNTC1	9735	broad.mit.edu	37	12	123082326	123082326	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123082326G>A	uc001ucv.3	+	43	4567	c.4404G>A	c.(4402-4404)acG>acA	p.T1468T	KNTC1_uc010taf.2_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1468					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCATTGAAACGCTGCTCCACA	0.512000														110			27		0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55361590	55361590	+	Missense_Mutation	SNP	G	A	A	rs139251893	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:55361590G>A	uc002ehy.3	+	3	1039	c.506G>A	c.(505-507)cGc>cAc	p.R169H	IRX6_uc002ehx.3_Missense_Mutation_p.R169H|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	169						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						AACGAGCACCGCAAAAACCCC	0.612000														119			32		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96706372	96706372	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:96706372G>T	uc010how.1	+	2	692	c.649G>T	c.(649-651)Gaa>Taa	p.E217*	EPHA6_uc003drp.1_Nonsense_Mutation_p.E217*	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	122						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GACTTGCAAAGAAACATTTAA	0.398000														161			11		3.86212e-05	4.026e-05	1	1	0
NAV1	89796	broad.mit.edu	37	1	201751924	201751924	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201751924G>T	uc021phi.1	+	5	2631	c.2284G>T	c.(2284-2286)Gaa>Taa	p.E762*	NAV1_uc001gwu.3_Nonsense_Mutation_p.E762*|NAV1_uc001gwv.1_Nonsense_Mutation_p.E270*|NAV1_uc001gww.2_Nonsense_Mutation_p.E371*|NAV1_uc001gwx.3_Nonsense_Mutation_p.E371*|NAV1_uc001gwy.1_Nonsense_Mutation_p.E143*	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	762					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGCTCCCCAGAAAGTACTCC	0.567000														98			36		9.85521e-28	1.23557e-27	1	1	0
SCAMP5	192683	broad.mit.edu	37	15	75310804	75310804	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75310804G>A	uc002azn.2	+	5	652	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SCAMP5_uc002azl.2_Silent_p.S147S|SCAMP5_uc002azm.2_Silent_p.S147S|SCAMP5_uc002azk.2_Silent_p.S147S|SCAMP5_uc010uly.2_Silent_p.S76S	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	147					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ACATTGGCTCGGCGGTGGTGA	0.582000														318			72		0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9492029	9492029	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9492029A>G	uc021uon.1	+	5	1183	c.1022A>G	c.(1021-1023)gAc>gGc	p.D341G	ZNF177_uc002mli.3_Missense_Mutation_p.D181G|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.D181G	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	181					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						AAACCCTATGACTGTAAGGAA	0.458000														92			24		0	0	1	0	0
RFC1	5981	broad.mit.edu	37	4	39310294	39310294	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39310294C>T	uc003gty.2	-	12	1987	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	RFC1_uc003gtx.2_Missense_Mutation_p.R616Q	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	616					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGCCAGTTTCGGAGCCAGCG	0.438000														251			49		0	0	1	0	0
EXOSC3	51010	broad.mit.edu	37	9	37782101	37782101	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:37782101C>T	uc004aal.2	-	2	534	c.508G>A	c.(508-510)Gct>Act	p.A170T	EXOSC3_uc010mly.1_Missense_Mutation_p.A170T|EXOSC3_uc004aam.2_Intron	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	170					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|RNA binding|protein binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		TCTTTATTAGCAACCACAAAC	0.423000														98			14		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37899533	37899533	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37899533C>T	uc002hsr.3	+	4	839	c.564C>T	c.(562-564)taC>taT	p.Y188Y	GRB7_uc002hss.3_Silent_p.Y188Y|GRB7_uc021twu.1_Silent_p.Y211Y|GRB7_uc010cwc.3_Silent_p.Y188Y|GRB7_uc002hst.3_Silent_p.Y188Y	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	188					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCGCCAAGTACGAACTGTTCA	0.607000														139			32		0	0	1	0	0
OR1E1	8387	broad.mit.edu	37	17	3301258	3301258	+	Missense_Mutation	SNP	C	A	A	rs145403333		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3301258C>A	uc002fvj.1	-	0	447	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_003553	NP_003544	P30953	OR1E1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						TGGTCAGCACCCAGGACAGCG	0.547000														111			15		2.48551e-13	2.89355e-13	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184040619	184040619	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184040619G>T	uc003fnp.3	+	12	2077	c.1806G>T	c.(1804-1806)aaG>aaT	p.K602N	EIF4G1_uc003fno.2_Missense_Mutation_p.K543N|EIF4G1_uc010hxw.2_Missense_Mutation_p.K438N|EIF4G1_uc010hxx.3_Missense_Mutation_p.K609N|EIF4G1_uc003fnt.3_Missense_Mutation_p.K313N|EIF4G1_uc010hxy.3_Missense_Mutation_p.K609N|EIF4G1_uc003fnq.3_Missense_Mutation_p.K515N|EIF4G1_uc003fnr.3_Missense_Mutation_p.K438N|EIF4G1_uc003fns.3_Missense_Mutation_p.K562N|EIF4G1_uc003fnv.4_Missense_Mutation_p.K602N|EIF4G1_uc003fnw.3_Missense_Mutation_p.K609N|EIF4G1_uc003fnx.3_Missense_Mutation_p.K406N|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	602	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCAGTGGAAGCCTCTAAACC	0.448000														179			42		6.5261e-18	7.85662e-18	1	1	0
KDM1A	23028	broad.mit.edu	37	1	23409708	23409708	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23409708A>C	uc001bgi.2	+	18	2559	c.2410A>C	c.(2410-2412)Atc>Ctc	p.I804L	KDM1A_uc001bgj.2_Missense_Mutation_p.I828L	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	804	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding	p.P803P(1)		breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGAACATACGATCCGTAACTA	0.483000														131			32		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429451	42429451	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42429451T>C	uc002igp.1	+	10	1467	c.1248T>C	c.(1246-1248)tgT>tgC	p.C416C		NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	416					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AGGGGCAGTGTCAGCGAGGAA	0.642000														147			45		0	0	1	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148679100	148679100	+	Silent	SNP	C	T	T	rs116579139	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:148679100C>T	uc003lqh.3	+	1	176	c.45C>T	c.(43-45)acC>acT	p.T15T	AFAP1L1_uc003lqg.4_Silent_p.T15T|AFAP1L1_uc010jgy.3_Silent_p.T15T	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	15							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCACCGGGCTGCTCA	0.652000														133			20		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39839590	39839590	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:39839590G>A	uc003guv.4	-	31	4436	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1299					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACCCACTGCAGCTCTCTTCCT	0.483000														66			20		0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606559	64606559	+	Silent	SNP	C	T	T	rs56393929		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64606559C>T	uc001obs.4	-	6	822	c.822G>A	c.(820-822)acG>acA	p.T274T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	274	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CATAGAAGGGCGTCTCCCCAA	0.612000														159			41		0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835759	139835759	+	Silent	SNP	C	T	T	rs138768587	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139835759C>T	uc004cjx.3	-	7	1585	c.1401G>A	c.(1399-1401)acG>acA	p.T467T	FBXW5_uc010nbx.3_Non-coding_Transcript|FBXW5_uc004cjy.3_Silent_p.T215T|FBXW5_uc004cjz.3_Silent_p.T197T	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	Homo sapiens F-box and WD repeat domain containing 5 (FBXW5), mRNA.	467							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		CGTCGTTGGGCGTGTAGGCGC	0.672000														112			25		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101920	47101920	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47101920C>T	uc002ldv.3	+	4	1005	c.753C>T	c.(751-753)ggC>ggT	p.G251G	LIPG_uc002ldu.1_Silent_p.G251G|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	251					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						TCCAGCCAGGCTGTGGACTCA	0.483000														65			18		0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671643	39671643	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39671643A>T	uc021wjc.1	+	0	460	c.460A>T	c.(460-462)Acc>Tcc	p.T154S	KCNJ15_uc002ywv.3_Missense_Mutation_p.T154S|KCNJ15_uc002yww.3_Missense_Mutation_p.T154S|KCNJ15_uc002ywx.3_Missense_Mutation_p.T154S	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	154					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						GGTCATCACGACCTTGATTGA	0.512000														86			27		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028071	37028071	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:37028071C>T	uc004ddl.2	+	0	1640	c.1588C>T	c.(1588-1590)Ctg>Ttg	p.L530L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	530										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCAAGATTCTGGTGTCCAG	0.617000														230			78		0	0	1	0	0
CALHM1	255022	broad.mit.edu	37	10	105218206	105218206	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105218206G>T	uc001kxe.2	-	0	443	c.303C>A	c.(301-303)tgC>tgA	p.C101*		NM_001001412	NP_001001412	Q8IU99	CAHM1_HUMAN	Homo sapiens calcium homeostasis modulator 1 (CALHM1), mRNA.	101						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						GGGCCATGGAGCAGAACATGT	0.657000														112			29		1.12875e-08	1.24115e-08	1	1	0
ADCY6	112	broad.mit.edu	37	12	49170893	49170893	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49170893G>A	uc001rsh.4	-	4	2030	c.1370C>T	c.(1369-1371)gCc>gTc	p.A457V	ADCY6_uc001rsi.4_Missense_Mutation_p.A457V|ADCY6_uc001rsj.4_Missense_Mutation_p.A457V|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	457					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TTACGAGATGGCCTCAATCAT	0.557000														361			86		0	0	1	0	0
HAUS3	79441	broad.mit.edu	37	4	2242216	2242216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:2242216C>T	uc003ges.1	-	1	688	c.458G>A	c.(457-459)gGa>gAa	p.G153E	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.G153E|HAUS3_uc003get.1_Missense_Mutation_p.G153E	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 3 (HAUS3), mRNA.	153					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ATTTAGAATTCCTTGACTCTG	0.353000														70			12		0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3245112	3245112	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3245112G>A	uc002wii.2	-	30	2896	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	C20orf194_uc002wij.3_Nonsense_Mutation_p.R688*|C20orf194_uc002wik.2_Nonsense_Mutation_p.R623*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	949										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TATCGAGATCGTAGCATCTCA	0.313000														77			19		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103969356	103969356	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969356C>T	uc001ymz.4	+	17	2720	c.2054C>T	c.(2053-2055)gCc>gTc	p.A685V	MARK3_uc001ymx.4_Missense_Mutation_p.A676V|MARK3_uc001ymw.4_Missense_Mutation_p.A661V|MARK3_uc001yna.4_Missense_Mutation_p.A645V|MARK3_uc001ymy.4_Missense_Mutation_p.A591V|MARK3_uc010awp.3_Missense_Mutation_p.A684V|MARK3_uc010tyb.2_Missense_Mutation_p.A480V|MARK3_uc010awq.3_Missense_Mutation_p.A258V|MARK3_uc001ynd.3_Missense_Mutation_p.A93V	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	685							ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GTGTTGGACGCCAATAACTGC	0.552000														93			17		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81732974	81732974	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:81732974G>A	uc001szo.2	-	20	2694	c.2533C>T	c.(2533-2535)Cga>Tga	p.R845*	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Nonsense_Mutation_p.R771*|PPFIA2_uc021rbh.1_Nonsense_Mutation_p.R746*|PPFIA2_uc021rbi.1_Nonsense_Mutation_p.R845*|PPFIA2_uc021rbj.1_Nonsense_Mutation_p.R845*|PPFIA2_uc021rbk.1_Nonsense_Mutation_p.R827*|PPFIA2_uc021rbl.1_Nonsense_Mutation_p.R845*|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Nonsense_Mutation_p.R412*|PPFIA2_uc021rbf.1_Nonsense_Mutation_p.R62*	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	771								p.R845*(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCCCAAGTCGAGCTTTTTCT	0.413000														177			47		0	0	1	0	0
LIN9	286826	broad.mit.edu	37	1	226454009	226454009	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226454009G>A	uc001hqa.2	-	8	1199	c.889C>T	c.(889-891)Cca>Tca	p.P297S	LIN9_uc001hqb.2_Missense_Mutation_p.P262S|LIN9_uc001hqc.3_Missense_Mutation_p.P229S|LIN9_uc009xel.1_Missense_Mutation_p.P262S	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	281					DNA replication|cell cycle	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		GCAGCAATTGGCATTGTCTCA	0.363000														42			17		0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096906	97096906	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97096906G>A	uc001kkp.3	-	27	3056	c.3011C>T	c.(3010-3012)aCc>aTc	p.T1004I	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.T958I|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1004					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	SH3/SH2 adaptor activity|actin binding|insulin receptor binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CAAGGGTGGGGTCAGGGCCAG	0.637000														97			9		0	0	1	0	0
RALBP1	10928	broad.mit.edu	37	18	9513171	9513171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:9513171G>A	uc002kob.3	+	1	351	c.128G>A	c.(127-129)cGc>cAc	p.R43H	RALBP1_uc002koc.3_Missense_Mutation_p.R43H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	43					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	p.Y42H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GGATTGTACCGCACTGGCGAG	0.542000														114			23		0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94486503	94486503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:94486503G>A	uc004arj.2	-	8	2472	c.2273C>T	c.(2272-2274)tCg>tTg	p.S758L	ROR2_uc004ari.1_Missense_Mutation_p.S618L	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	758	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGTCTGCGCCGAGCTGTTGTA	0.652000														217			29		0	0	1	0	0
ELP3	55140	broad.mit.edu	37	8	27987089	27987089	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27987089C>T	uc003xgo.4	+	7	836	c.688C>T	c.(688-690)Cga>Tga	p.R230*	ELP3_uc003xgn.4_Nonsense_Mutation_p.R215*|ELP3_uc011las.2_Nonsense_Mutation_p.R111*|ELP3_uc011lat.2_Nonsense_Mutation_p.R111*|ELP3_uc011laq.2_Nonsense_Mutation_p.R158*|ELP3_uc011lar.2_Nonsense_Mutation_p.R138*	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	230					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|cytoplasm|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		CTGCATGAAGCGACATTTAAG	0.418000														142			46		0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123277838	123277838	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:123277838G>A	uc003ieh.3	+	81	14608	c.14563G>A	c.(14563-14565)Gtg>Atg	p.V4855M	KIAA1109_uc003iem.3_Missense_Mutation_p.V1211M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	4855					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						CCACATTTGTGTGACTATGGA	0.358000														111			18		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220497695	220497695	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220497695G>A	uc002vmo.4	+	8	1531	c.1322G>A	c.(1321-1323)aGg>aAg	p.R441K	SLC4A3_uc002vmp.4_Missense_Mutation_p.R414K|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	414					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGAGGACAGGGCCAGCGTC	0.647000														110			17		0	0	1	0	0
FAM78B	149297	broad.mit.edu	37	1	166039940	166039940	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:166039940A>G	uc021pef.1	-	1	797	c.324T>C	c.(322-324)gaT>gaC	p.D108D	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	108										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					AGCTCACCCCATCTGAGTCAC	0.522000														143			17		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62023664	62023664	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:62023664C>T	uc001jky.3	-	5	966	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	ANK3_uc010qih.2_Missense_Mutation_p.A193T|ANK3_uc001jkz.4_Missense_Mutation_p.A204T|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	210					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTTTTCGGGCCGCGATATGA	0.542000														101			24		0	0	1	0	0
CDC42EP4	23580	broad.mit.edu	37	17	71282594	71282594	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71282594G>A	uc002jjn.3	-	1	193	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	CDC42EP4_uc002jjo.3_Missense_Mutation_p.R16C|CDC42EP4_uc002jjp.1_Missense_Mutation_p.R16C|CDC42EP4_uc021ucn.1_Missense_Mutation_p.R16C	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	16					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CGGGAACGGCGCTTGGAGTGC	0.682000														80			21		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583229	24583229	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583229G>A	uc002zzn.1	+	10	1746	c.1702G>A	c.(1702-1704)Ggc>Agc	p.G568S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	568	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATCAGGGGCCGGCCTGGAGGT	0.642000														114			6		0	0	1	0	0
NCOA2	10499	broad.mit.edu	37	8	71039253	71039253	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71039253C>T	uc003xyn.1	-	18	3873	c.3711G>A	c.(3709-3711)caG>caA	p.Q1237Q	NCOA2_uc011lfb.1_Silent_p.Q325Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1237					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CCCTCTGTCTCTGGGCCAGCA	0.453000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									20			3		0	0	1	0	0
SERINC3	10955	broad.mit.edu	37	20	43133515	43133515	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:43133515G>A	uc002xme.3	-	6	935	c.801C>T	c.(799-801)tcC>tcT	p.S267S	SERINC3_uc002xmf.1_Silent_p.S267S|SERINC3_uc010ggs.1_Silent_p.S260S|SERINC3_uc010zwp.1_Silent_p.S212S	NM_198941	NP_945179	Q13530	SERC3_HUMAN	Homo sapiens serine incorporator 3 (SERINC3), transcript variant 2, mRNA.	267						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GCAAGAGGCCGGAGCGAGGCT	0.493000														47			14		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202272137	202272137	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202272137A>T	uc002uyb.4	-	2	721	c.275T>A	c.(274-276)tTc>tAc	p.F92Y	TRAK2_uc002uyc.2_Missense_Mutation_p.F92Y	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	92						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATGTAACGGAAAGTCTCTTC	0.388000														63			19		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236157030	236157030	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236157030G>A	uc001hxo.3	-	12	2772	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	NID1_uc009xgd.3_Silent_p.H757H|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	890	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	CGGTGCTGCCGTGGCACTGGG	0.711000														66			29		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48619008	48619008	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48619008G>A	uc003ctz.2	-	48	4781	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	COL7A1_uc021wxp.1_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1594	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGATTCACCCGGTCTCCAGGG	0.587000														155			38		0	0	1	0	0
ZNF383	163087	broad.mit.edu	37	19	37734149	37734149	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37734149C>T	uc002oft.1	+	7	1591	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ZNF383_uc002ofs.1_Silent_p.P272P|ZNF383_uc002ofu.1_Silent_p.P337P	NM_152604	NP_689817	Q8NA42	ZN383_HUMAN	Homo sapiens zinc finger protein 383 (ZNF383), mRNA.	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCCTATGAGTGCA	0.418000														121			22		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10391791	10391791	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:10391791G>T	uc003jet.1	+	6	897	c.714G>T	c.(712-714)gaG>gaT	p.E238D	MARCH6_uc011cmu.1_Missense_Mutation_p.E190D|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.E133D	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	238					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.E237Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						acaatgaggaggaagatgaCG	0.557000														72			5		2.7689e-08	3.02839e-08	1	1	0
ABCA12	26154	broad.mit.edu	37	2	215876354	215876354	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215876354C>T	uc002vew.3	-	16	2361	c.2141G>A	c.(2140-2142)cGa>cAa	p.R714Q	ABCA12_uc002vev.3_Missense_Mutation_p.R396Q|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	714					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R714R(1)		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)		TGTGTTCATTCGGTTGCTTCT	0.403000														164			33		0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33045246	33045246	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33045246G>A	uc010geu.1	+	13	1577	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q	ITCH_uc002xak.2_Missense_Mutation_p.R421Q|ITCH_uc010zuj.1_Missense_Mutation_p.R311Q	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	462	Required for interaction with FYN.|WW 3.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACAACACACGAATTACACAA	0.398000														49			7		0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330304	51330304	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51330304C>T	uc002ptl.3	-	2	342	c.311G>A	c.(310-312)cGc>cAc	p.R104H	KLK15_uc002ptm.3_Missense_Mutation_p.R104H|KLK15_uc002ptn.3_Missense_Mutation_p.R104H|KLK15_uc002pto.3_Missense_Mutation_p.R103H|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R103H|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GATGTCGTTGCGGTGGCTGCG	0.697000														277			18		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170620	159170620	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:159170620G>T	uc001ftl.2	+	8	1284	c.1105G>T	c.(1105-1107)Ggc>Tgc	p.G369C	CADM3_uc001ftk.2_Missense_Mutation_p.G403C|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	369					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.G369E(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TGAGGCAAAAGGCTCCGACGA	0.562000														153			31		5.62743e-28	7.05969e-28	1	1	0
LRRIQ1	84125	broad.mit.edu	37	12	85623425	85623425	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85623425A>T	uc001tac.3	+	24	5064	c.4953A>T	c.(4951-4953)aaA>aaT	p.K1651N		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1651										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)		GAAATATGAAATGGTGAGGTC	0.338000														62			12		0	0	1	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48141337	48141337	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:48141337G>A	uc001rpz.4	-	14	2096	c.1546C>T	c.(1546-1548)Cga>Tga	p.R516*	RAPGEF3_uc001rpx.3_5'Flank|RAPGEF3_uc010sln.2_Nonsense_Mutation_p.R38*|RAPGEF3_uc001rpy.3_Non-coding_Transcript|RAPGEF3_uc009zkp.3_Nonsense_Mutation_p.R474*|RAPGEF3_uc009zkq.3_Nonsense_Mutation_p.R474*|RAPGEF3_uc001rqa.3_Nonsense_Mutation_p.R38*	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	474					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CTGTGGCATCGCCGCCTCTCT	0.537000														124			32		0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55805718	55805718	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55805718C>T	uc002qkf.3	+	8	806	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	BRSK1_uc021vbs.1_Missense_Mutation_p.R211W|BRSK1_uc002qkg.3_Missense_Mutation_p.R211W	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	211	Protein kinase.				G2/M transition DNA damage checkpoint|establishment of cell polarity|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TGATGGCCGCCGGGCAGACAT	0.592000														66			11		0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43519460C>T	uc002ovm.1	-	3	879	c.772G>A	c.(772-774)Gac>Aac	p.D258N	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.D136N|PSG11_uc002ovo.1_Missense_Mutation_p.D136N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	258	Ig-like C2-type 2.				female pregnancy	extracellular region		p.D258Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448000														248			56		0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	194943	194943	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:194943A>G	uc003jal.1	+	1	1048	c.1020A>G	c.(1018-1020)ggA>ggG	p.G340G		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	340										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						ACCTCAGTGGACACAACCTGG	0.617000														40			6		0	0	1	0	0
ZNF16	7564	broad.mit.edu	37	8	146156950	146156950	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:146156950T>G	uc003zet.3	-	3	1410	c.1223A>C	c.(1222-1224)aAt>aCt	p.N408T	ZNF16_uc003zeu.3_Missense_Mutation_p.N408T	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GCCACAATCATTACACTCATA	0.527000														113			33		0	0	1	0	0
PKD2L2	27039	broad.mit.edu	37	5	137243502	137243502	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137243502G>A	uc003lby.3	+	6	1103	c.1047G>A	c.(1045-1047)ttG>ttA	p.L349L	PKD2L2_uc003lbw.1_Silent_p.L349L|PKD2L2_uc003lbx.3_Silent_p.L349L|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	349						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GACAGCTGTTGAAAAGTACTG	0.299000														31			8		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159644586	159644586	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159644586G>A	uc010kjv.3	+	6	993	c.793G>A	c.(793-795)Gac>Aac	p.D265N	FNDC1_uc010kjw.1_Missense_Mutation_p.D213N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	265	Fibronectin type-III 3.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGTACCTGACGACATCAGCGT	0.483000														49			7		0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121442209	121442209	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:121442209C>T	uc009zxa.1	-	5	652	c.629G>A	c.(628-630)aGc>aAc	p.S210N	C12orf43_uc001tzh.1_Missense_Mutation_p.S179N|C12orf43_uc010szo.1_Missense_Mutation_p.S138N|C12orf43_uc010szp.1_Missense_Mutation_p.S169N|C12orf43_uc001tzi.1_Missense_Mutation_p.S180N	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	179	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGTTCCAGGGCTGTGGATGGC	0.602000														410			37		0	0	1	0	0
LOC100132247	100132247	broad.mit.edu	37	16	22545850	22545850	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22545850G>A	uc010bxg.3	+	8	1728	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	LOC100132247_uc010vbv.2_Missense_Mutation_p.E516K|LOC100132247_uc021tew.1_Missense_Mutation_p.E516K|LOC100132247_uc010bxi.3_Missense_Mutation_p.E497K|LOC100132247_uc010bxk.3_Missense_Mutation_p.E333K|DQ576951_uc021tey.1_5'Flank|DQ576951_uc010vbx.1_Splice_Site	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		GACACCTTCCGAGCGTCAGCT	0.577000														676			44		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43805724	43805724	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43805724C>T	uc002rsw.4	-	8	1096	c.744G>A	c.(742-744)caG>caA	p.Q248Q	THADA_uc002rsx.4_Silent_p.Q248Q|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Silent_p.Q248Q|THADA_uc002rtc.4_Silent_p.Q248Q|THADA_uc002rtd.3_Silent_p.Q248Q	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	248							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CAGATGTGCTCTGTACAGTCT	0.358000														55			10		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32911541	32911541	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32911541A>T	uc001uub.1	+	10	3276	c.3049A>T	c.(3049-3051)Atc>Ttc	p.I1017F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1017					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	p.I1017S(1)		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)		AAATAAGGAAATCAAGCTCTC	0.323000			"""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)				62			11		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34937945	34937945	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34937945T>C	uc003ojx.4	+	3	577	c.435_splice	c.e3+2	p.Q145_splice	ANKS1A_uc011dst.2_Splice_Site|ANKS1A_uc010jvp.2_Splice_Site|ANKS1A_uc010jvq.1_Splice_Site|ANKS1A_uc010jvr.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	145						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AATGAACAGGTCGGAAGGAAG	0.527000														71			18		0	0	1	0	0
VANGL1	81839	broad.mit.edu	37	1	116233771	116233771	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116233771C>T	uc001efv.1	+	7	1617	c.1346C>T	c.(1345-1347)cCc>cTc	p.P449L	VANGL1_uc009wgy.1_Missense_Mutation_p.P447L|VANGL1_uc021ose.1_Missense_Mutation_p.P449L	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	449					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGTGCGGGCCCCACCCTGCAA	0.542000														72			17		0	0	1	0	0
PNPLA8	50640	broad.mit.edu	37	7	108128376	108128376	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:108128376C>A	uc003vff.1	-	9	2112	c.1705G>T	c.(1705-1707)Gta>Tta	p.V569L	PNPLA8_uc003vfi.1_Missense_Mutation_p.V469L|PNPLA8_uc003vfh.1_Missense_Mutation_p.V569L|PNPLA8_uc003vfj.1_Missense_Mutation_p.V569L|PNPLA8_uc003vfk.1_Missense_Mutation_p.V469L	NM_015723	NP_056538	Q9NP80	PLPL8_HUMAN	Homo sapiens patatin-like phospholipase domain containing 8 (PNPLA8), transcript variant 1, mRNA.	569	Patatin.				fatty acid metabolic process|lipid catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						CCTCTATTTACTATGGTACTT	0.328000														72			16		2.94398e-08	3.21697e-08	1	1	0
SEMA4G	57715	broad.mit.edu	37	10	102743779	102743779	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743779A>G	uc001krw.2	+	13	2807	c.2423A>G	c.(2422-2424)aAc>aGc	p.N808S	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Missense_Mutation_p.V173A|MRPL43_uc001krz.1_Non-coding_Transcript|MRPL43_uc001ksa.1_Missense_Mutation_p.V173A|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	803					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGCAGAGCAACAATGGAGTA	0.607000														177			36		0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4011159	4011159	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4011159G>A	uc003smx.3	+	11	1915	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	592	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGGCCACGCTGCACTGTG	0.517000														52			6		0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64021957	64021957	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64021957C>A	uc009ypi.3	+	1	297	c.170C>A	c.(169-171)cCc>cAc	p.P57H	PLCB3_uc009ypg.2_Missense_Mutation_p.P57H|PLCB3_uc009yph.2_Intron	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	57					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGACGGGCCCCAACATGGTG	0.682000														289			88		1.68508e-47	2.14892e-47	1	1	0
ZNF493	284443	broad.mit.edu	37	19	21605913	21605913	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21605913G>T	uc002npw.3	+	3	571	c.452G>T	c.(451-453)aGc>aTc	p.S151I	ZNF493_uc002npx.3_Missense_Mutation_p.S23I|ZNF493_uc002npy.3_Missense_Mutation_p.S23I|ZNF493_uc021urq.1_Missense_Mutation_p.S23I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ACTACCCAGAGCAAAATATTT	0.284000														109			27		2.65835e-16	3.16856e-16	1	1	0
SRC	6714	broad.mit.edu	37	20	36030016	36030016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36030016G>A	uc002xgx.3	+	10	1500	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SRC_uc002xgy.3_Missense_Mutation_p.D351N|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	351	Protein kinase.				Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GAGTTTGCTGGACTTTCTCAA	0.632000														148			25		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904272	139904272	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139904272C>T	uc004ckm.1	-	42	6716	c.6666G>A	c.(6664-6666)cgG>cgA	p.R2222R	ABCA2_uc022bpy.1_Silent_p.R2123R|ABCA2_uc022bpz.1_Silent_p.R2193R|ABCA2_uc011mem.1_Silent_p.R2192R|ABCA2_uc004ckl.1_Silent_p.R2123R|ABCA2_uc022bqa.1_5'Flank	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2192	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TGGAGAGCTTCCGCTTGTTGC	0.632000														60			11		0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149509003	149509003	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:149509003G>A	uc010lpk.3	+	67	9540	c.9540G>A	c.(9538-9540)gaG>gaA	p.E3180E		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3183					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTAGGTGAGCCCACGTGGT	0.672000														118			14		0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46827478	46827478	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46827478T>C	uc001cpr.1	+	5	1224	c.1115T>C	c.(1114-1116)tTt>tCt	p.F372S	NSUN4_uc010omc.1_Missense_Mutation_p.F323S|NSUN4_uc009vyf.1_Missense_Mutation_p.F221S|NSUN4_uc009vyg.1_Missense_Mutation_p.F323S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	372							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					ATGGCCAATTTTGGCCCCATG	0.453000														74			19		0	0	1	0	0
HADHB	3032	broad.mit.edu	37	2	26501526	26501526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:26501526G>A	uc002rgz.3	+	7	738	c.487G>A	c.(487-489)Ggt>Agt	p.G163S	HADHB_uc010ykv.2_Missense_Mutation_p.G141S|HADHB_uc010ykw.2_Missense_Mutation_p.G148S|HADHB_uc010ykx.2_Missense_Mutation_p.G89S	NM_000183	NP_000174	P55084	ECHB_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA.	163					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATCGTGGCAGGTGGTGTTGA	0.433000														143			18		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292992	130292992	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130292992T>C	uc010htl.3	+	6	3201	c.3170T>C	c.(3169-3171)tTc>tCc	p.F1057S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1057	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGGGAACTTTCATAGGTGAA	0.453000														69			21		0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749634	165749634	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:165749634C>T	uc003qun.3	-	21	2460	c.2215G>A	c.(2215-2217)Gag>Aag	p.E739K	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.E669K|PDE10A_uc003quo.3_Missense_Mutation_p.E749K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	739					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.T738T(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	AGAAGAGGCTCCGTGGGAGGG	0.463000														58			9		0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5463617	5463617	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:5463617C>T	uc003jdm.4	+	12	4392	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1390										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						ACTGCGAGGCCGAAACAACAT	0.453000														39			7		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	36982186	36982186	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:36982186T>G	uc002rpl.3	+	4	700	c.398T>G	c.(397-399)tTt>tGt	p.F133C	VIT_uc002rpk.3_Missense_Mutation_p.F133C|VIT_uc010ynf.2_Missense_Mutation_p.F126C|VIT_uc002rpm.3_Missense_Mutation_p.F133C|VIT_uc010ezv.3_Missense_Mutation_p.F133C|VIT_uc010ezw.3_Missense_Mutation_p.F133C	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	133	LCCL.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGAGAATCCTTTATCGTCTTA	0.443000														70			12		0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1250905	1250905	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1250905G>T	uc001qjb.2	+	7	1930	c.1689G>T	c.(1687-1689)aaG>aaT	p.K563N	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.K535N|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.K563N|ERC1_uc010sdv.1_Missense_Mutation_p.K311N|ERC1_uc009zdp.3_Missense_Mutation_p.K203N	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	563					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ATGACCTCAAGGACATGTTGG	0.428000														48			8		0.000274275	0.000282808	1	1	0
TMEM184B	25829	broad.mit.edu	37	22	38643832	38643832	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38643832C>T	uc003avf.1	-	1	360	c.136G>A	c.(136-138)Gct>Act	p.A46T	TMEM184B_uc003avh.2_5'UTR|TMEM184B_uc003avg.2_Missense_Mutation_p.A46T|TMEM184B_uc010gxl.2_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	46						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					ATGGCCTGAGCGGCAGTTGTC	0.637000														66			4		0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169890879	169890879	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169890879G>A	uc001ggv.3	-	19	2588	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	KIFAP3_uc021pep.1_Missense_Mutation_p.R733C|KIFAP3_uc010ply.2_Missense_Mutation_p.R695C|KIFAP3_uc001ggw.2_Missense_Mutation_p.R729C|KIFAP3_uc010plx.2_Missense_Mutation_p.R475C	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	773					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGGCAGGGCGTCCAAGAATG	0.413000														65			13		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65416876	65416876	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416876G>T	uc001ofb.2	+	9	2617	c.2450G>T	c.(2449-2451)aGt>aTt	p.S817I	SIPA1_uc010rom.1_Missense_Mutation_p.S715I|SIPA1_uc001ofd.2_Missense_Mutation_p.S817I	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	817					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GATGGTGGCAGTCCTCCAGGG	0.652000														23			5		0.014758	0.0149061	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624553	123624553	+	Missense_Mutation	SNP	C	T	T	rs140203672	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624553C>T	uc010rzy.2	-	0	674	c.674G>A	c.(673-675)cGa>cAa	p.R225Q		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGAAGGAATTCGTAGGATTGC	0.473000														127			27		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51378884	51378884	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:51378884C>T	uc001wyu.3	-	13	1885	c.1758G>A	c.(1756-1758)acG>acA	p.T586T	PYGL_uc010tqq.2_Silent_p.T552T	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	586					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTTGTACATCGTGATCACAT	0.512000														238			54		0	0	1	0	0
IL26	55801	broad.mit.edu	37	12	68619463	68619463	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68619463T>C	uc001stx.1	-	0	109	c.74A>G	c.(73-75)cAa>cGa	p.Q25R		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	25					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of cytokine secretion|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		GAAGGAAGATTGCTTGTGCTT	0.473000														213			61		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	27017577	27017577	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:27017577C>A	uc001zbb.3	-	3	483	c.380G>T	c.(379-381)aGc>aTc	p.S127I	GABRB3_uc001zaz.3_Missense_Mutation_p.S71I|GABRB3_uc001zba.3_Missense_Mutation_p.S71I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	71					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATGTCGATGCTGGCGATGTC	0.692000														32			9		0.010729	0.0108564	1	1	0
TIAL1	7073	broad.mit.edu	37	10	121342012	121342012	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:121342012C>T	uc001lei.1	-	2	751	c.187G>A	c.(187-189)Gct>Act	p.A63T	TIAL1_uc001leh.1_Missense_Mutation_p.A41T|TIAL1_uc001lej.1_Missense_Mutation_p.A80T|TIAL1_uc001lek.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	63	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		GCTAATGCAGCAGCTGCATCT	0.378000														152			35		0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803173	67803173	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67803173C>A	uc003xwz.4	+	9	1318	c.1147C>A	c.(1147-1149)Cta>Ata	p.L383I	MCMDC2_uc011lev.2_Missense_Mutation_p.L383I|MCMDC2_uc011lew.2_Missense_Mutation_p.L314I|MCMDC2_uc011lex.2_Missense_Mutation_p.L141I|MCMDC2_uc003xwy.4_Missense_Mutation_p.L383I	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Homo sapiens chromosome 8 open reading frame 45 (C8orf45), transcript variant 1, mRNA.	383					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCCACTCTATCCAGGAA	0.408000														105			12		4.3838e-07	4.70703e-07	1	1	0
CDH12	1010	broad.mit.edu	37	5	22078698	22078698	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:22078698T>G	uc010iuc.2	-	1	546	c.88A>C	c.(88-90)Act>Cct	p.T30P	CDH12_uc011cno.1_Missense_Mutation_p.T30P|CDH12_uc003jgk.2_Missense_Mutation_p.T30P	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	30					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTGGCTAAAGTCTGCTGTGGC	0.453000										HNSCC(59;0.17)				221			35		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187630410	187630410	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187630410C>T	uc003izf.3	-	1	760	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	FAT1_uc010iso.1_Missense_Mutation_p.R191Q	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	191	Cadherin 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATATCTGTTCGATCTTTAAA	0.433000										HNSCC(5;0.00058)				163			23		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108290635	108290635	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108290635T>C	uc003kop.1	+	12	1917	c.1533_splice	c.e12+2	p.D511_splice	FER_uc011cvf.1_Intron|FER_uc011cvg.1_Splice_Site_p.D336_splice	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	511	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TATGTTGATGTACGTTTCCAG	0.348000														96			23		0	0	1	0	0
RRM2B	50484	broad.mit.edu	37	8	103231160	103231160	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:103231160G>A	uc022azl.1	-	5	791	c.782C>T	c.(781-783)gCc>gTc	p.A261V	RRM2B_uc003ykn.3_Missense_Mutation_p.A189V|RRM2B_uc010mbv.2_Missense_Mutation_p.A137V|RRM2B_uc003yko.3_Non-coding_Transcript|RRM2B_uc010mbw.1_Intron|RRM2B_uc010mbx.1_Intron|RRM2B_uc010mby.1_Intron	NM_001172477	NP_001165948	Q7LG56	RIR2B_HUMAN	Homo sapiens ribonucleotide reductase M2 B (TP53 inducible) (RRM2B), transcript variant 2, mRNA.	189					DNA repair|deoxyribonucleoside diphosphate metabolic process|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)			AGCAGCAAAGGCCACCACTCT	0.353000								Modulation of nucleotide pools						196			39		0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74617337	74617337	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74617337T>A	uc009yub.3	-	9	1258	c.926A>T	c.(925-927)gAt>gTt	p.D309V	XRRA1_uc001ovm.2_Intron|XRRA1_uc001ovn.3_5'UTR|XRRA1_uc001ovo.3_5'UTR|XRRA1_uc001ovp.4_Missense_Mutation_p.D76V|XRRA1_uc001ovq.4_Missense_Mutation_p.D309V|XRRA1_uc001ovr.2_5'UTR|XRRA1_uc001ovt.2_Missense_Mutation_p.D76V	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	309					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CAGTTGCTCATCTGAGTCCTC	0.498000														69			14		0	0	1	0	0
ERCC1	2067	broad.mit.edu	37	19	45924573	45924573	+	Missense_Mutation	SNP	C	T	T	rs150584960		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45924573C>T	uc002pbs.2	-	2	330	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	ERCC1_uc002pbt.2_Missense_Mutation_p.E62K|ERCC1_uc002pbu.2_Intron|ERCC1_uc002pbv.3_Missense_Mutation_p.E62K	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	62					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		ATGGCATATTCGGCGTAGGTC	0.642000								Nucleotide excision repair (NER)						170			40		0	0	1	0	0
CHST11	50515	broad.mit.edu	37	12	105151191	105151191	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:105151191C>T	uc001tkz.3	+	2	1167	c.669C>T	c.(667-669)aaC>aaT	p.N223N	CHST11_uc001tky.3_Silent_p.N218N	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	223					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.N223N(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						AGCGGAAGAACGCCACCCAGG	0.567000														101			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64625366	64625366	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64625366G>A	uc001xgl.3	+	85	16046	c.15816G>A	c.(15814-15816)atG>atA	p.M5272I	SYNE2_uc001xgm.3_Missense_Mutation_p.M5272I|SYNE2_uc010apy.3_Missense_Mutation_p.M1657I|SYNE2_uc001xgn.3_Missense_Mutation_p.M234I|SYNE2_uc021rui.1_Missense_Mutation_p.M234I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc001xgp.3_Missense_Mutation_p.M1I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5272					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAACCTCCATGCAGTCAGTTT	0.408000														61			19		0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	154996996	154996996	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:154996996C>T	uc002tyt.4	+	1	393	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	GALNT13_uc002tyr.4_Silent_p.L97L|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	97						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						TAATAGAAGTCTGCCAGATGT	0.333000														63			13		0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81810581	81810581	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810581T>C	uc021xav.1	-	0	370	c.88A>G	c.(88-90)Aga>Gga	p.R30G		NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	30					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCAGGAGTCTGGCCAGTTCG	0.677000									Glycogen Storage Disease, type IV					135			28		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1104196	1104196	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1104196T>C	uc001lsx.1	+	50	8402	c.8375T>C	c.(8374-8376)gTc>gCc	p.V2792A		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5158						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGGACACCGTCTGCGGGCTC	0.701000														48			13		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40354319	40354319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40354319G>A	uc002omp.4	-	34	16158	c.16150C>T	c.(16150-16152)Cat>Tat	p.H5384Y		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5384	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGGGAGTCATGCCAATCATTG	0.547000														93			21		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106653491	106653491	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106653491C>T	uc021ser.1	-	1433		c.28728G>A								Parts of antibodies, mostly variable regions.																		CTGCATAGTGCGTCCTACTGC	0.532000														265			67		0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	421012	421012	+	Missense_Mutation	SNP	C	T	T	rs142093178		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:421012C>T	uc003zgf.2	+	31	4199	c.4087C>T	c.(4087-4089)Cgg>Tgg	p.R1363W	DOCK8_uc022bcu.1_Missense_Mutation_p.R1295W|DOCK8_uc010mgv.3_Missense_Mutation_p.R1263W|DOCK8_uc010mgu.3_Missense_Mutation_p.R665W|DOCK8_uc003zgk.2_Missense_Mutation_p.R821W	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1363	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGTCAAGGCCCGGCTGGAAGA	0.582000														165			21		0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969093	47969093	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47969093G>A	uc010ele.3	-	0	584	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SLC8A2_uc002pgx.3_Missense_Mutation_p.R190C|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	190					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		TTGATCTTGCGGCTCTCGCCG	0.572000														80			16		0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53045841	53045841	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53045841A>G	uc001sat.3	-	0	119	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	29	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCCACCAGACACCACAGCTGA	0.597000														53			8		0	0	1	0	0
SLC52A2	79581	broad.mit.edu	37	8	145584275	145584275	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145584275T>C	uc003zcc.2	+	3	1191	c.1027T>C	c.(1027-1029)Tct>Cct	p.S343P	FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_5'Flank|FBXL6_uc003zcb.3_5'Flank|FBXL6_uc010mfx.3_5'Flank|SLC52A2_uc003zce.2_Missense_Mutation_p.S343P|SLC52A2_uc010mfy.2_Missense_Mutation_p.S343P|SLC52A2_uc011llc.2_Missense_Mutation_p.S255P|SLC52A2_uc003zcd.2_Missense_Mutation_p.S343P	NM_001253816	NP_001240745	Q9HAB3	RFT3_HUMAN	Homo sapiens G protein-coupled receptor 172A (GPR172A), transcript variant 3, mRNA.	343						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGGCGGCCTCTCTCTGCTGGG	0.697000														217			72		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623808	100623808	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100623808T>C	uc002taf.3	-	4	508	c.364A>G	c.(364-366)Aaa>Gaa	p.K122E	AFF3_uc002tag.3_Missense_Mutation_p.K97E|AFF3_uc010fiq.1_Missense_Mutation_p.K97E|AFF3_uc010yvr.1_Missense_Mutation_p.K251E|AFF3_uc002tah.1_Missense_Mutation_p.K122E|AFF3_uc010fir.1_Missense_Mutation_p.K174E	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	97					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						ACCCCAGGTTTGGGAACTCCA	0.438000														139			46		0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945942	52945942	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52945942G>T	uc003gzl.3	+	8	1490	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.K372N|SPATA18_uc003gzk.1_Missense_Mutation_p.K404N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(3)|p.P403P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443000														292			63		1.65906e-26	2.07413e-26	1	1	0
FEZF1	389549	broad.mit.edu	37	7	121944232	121944232	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944232T>C	uc003vkd.3	-	0	334	c.260A>G	c.(259-261)aAg>aGg	p.K87R	FEZF1_uc003vkc.3_Missense_Mutation_p.K87R|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	87					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CACTCCTGCCTTGGGGCTCGT	0.687000														93			15		0	0	1	0	0
GEMIN4	50628	broad.mit.edu	37	17	650235	650235	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:650235C>T	uc002frs.1	-	1	1167	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N	GEMIN4_uc010vqa.1_3'UTR	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	350					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GTCAGACTGTCGCACAGCCGG	0.637000														215			62		0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160312937	160312937	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160312937C>A	uc001fvv.4	-	0	418	c.24G>T	c.(22-24)aaG>aaT	p.K8N	COPA_uc009wti.3_Missense_Mutation_p.K8N|COPA_uc009wtj.1_5'UTR|NCSTN_uc009wtk.1_5'Flank|NCSTN_uc001fvx.3_5'Flank|NCSTN_uc001fvy.3_5'Flank|NCSTN_uc010pjf.2_5'Flank	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	8					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCGCGCGCTCTTGGTCTCGA	0.567000														382			135		1.53648e-56	1.9623e-56	1	1	0
CD1B	910	broad.mit.edu	37	1	158301164	158301164	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158301164T>C	uc001frx.3	-	0	158	c.50A>G	c.(49-51)aAc>aGc	p.N17S	CD1B_uc001frw.3_Missense_Mutation_p.N17S|CD1B_uc010pic.1_Missense_Mutation_p.N17S	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	17					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ATGTTCACTGTTACCACCAGG	0.478000														48			19		0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229675332	229675332	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229675332G>T	uc001htp.4	-	5	1253	c.1210C>A	c.(1210-1212)Ctc>Atc	p.L404I		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	404	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				TTTCCGGAGAGCCCAGTCTGT	0.493000														123			15		2.32078e-09	2.57599e-09	1	1	0
CCR4	1233	broad.mit.edu	37	3	32995192	32995192	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32995192C>T	uc003cfg.1	+	1	446	c.278C>T	c.(277-279)cCt>cTt	p.P93L	CCR4_uc021wuw.1_Missense_Mutation_p.P93L	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	93					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TTTTCCCTCCCTTTTTGGGGC	0.498000														237			58		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4433183	4433183	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4433183C>T	uc002mal.3	+	12	2420	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	774	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCAGCCCGCGGAGCCCCTC	0.662000								Chromatin Structure						161			45		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23191452	23191452	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23191452C>T	uc009vqj.1	+	4	1195	c.1050C>T	c.(1048-1050)tcC>tcT	p.S350S	EPHB2_uc001bge.3_Silent_p.S350S|EPHB2_uc001bgf.3_Silent_p.S350S|EPHB2_uc010odu.2_Silent_p.S350S|MIR4253_uc021oic.1_5'Flank	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	350	Fibronectin type-III 1.				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)		CCCGCGACTCCGGAGGCCGAG	0.657000														293			24		0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240070919	240070919	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240070919C>T	uc021plc.1	+	0	168	c.168C>T	c.(166-168)acC>acT	p.T56T	CHRM3_uc001hyp.3_Silent_p.T56T	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	56					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T56T(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACGGTACCACCGATGACCCTC	0.572000														158			48		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395524	124395524	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124395524A>C	uc001lgk.1	+	49	6285	c.6179A>C	c.(6178-6180)aAc>aCc	p.N2060T	DMBT1_uc001lgl.1_Missense_Mutation_p.N2050T|DMBT1_uc001lgm.1_Missense_Mutation_p.N1432T|DMBT1_uc021qaf.1_Missense_Mutation_p.N2060T|DMBT1_uc021qag.1_Missense_Mutation_p.N2050T|DMBT1_uc021qah.1_Missense_Mutation_p.N1432T|DMBT1_uc009xzz.1_Missense_Mutation_p.N2059T|DMBT1_uc010qtx.1_Missense_Mutation_p.N780T|DMBT1_uc009yab.1_Missense_Mutation_p.N763T|DMBT1_uc009yac.1_Missense_Mutation_p.N354T	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2060	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGTGGCTGCAACTATGATTAT	0.527000														73			19		0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41461643	41461643	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41461643G>A	uc001cgk.4	+	7	1283	c.775G>A	c.(775-777)Gag>Aag	p.E259K	CTPS1_uc010ojo.2_Missense_Mutation_p.E28K|CTPS1_uc010ojp.1_Missense_Mutation_p.E266K|CTPS1_uc001cgl.4_Missense_Mutation_p.E259K|CTPS1_uc010ojq.2_Missense_Mutation_p.E103K	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	259					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	GTTGTTAGAGGAGCAAGGGGT	0.408000														92			11		0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160262774	160262774	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:160262774G>A	uc003iqg.4	+	13	2420	c.2110G>A	c.(2110-2112)Gag>Aag	p.E704K		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	704					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGATGCTCAGGAGTTGTTGAG	0.398000														89			14		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6928490	6928490	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6928490A>G	uc001qqv.2	+	9	1630	c.1372A>G	c.(1372-1374)Att>Gtt	p.I458V	CD4_uc010sfj.2_Missense_Mutation_p.I185V|CD4_uc009zfc.2_Missense_Mutation_p.I279V|CD4_uc010sfl.2_Missense_Mutation_p.I185V|CD4_uc010sfk.2_Missense_Mutation_p.I185V|CD4_uc010sfm.1_Missense_Mutation_p.I185V|GPR162_uc010sfn.1_5'Flank|GPR162_uc001qqw.1_5'Flank|GPR162_uc001qqx.1_5'Flank|GPR162_uc009zfd.1_5'Flank	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	458					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				ATGTAGCCCCATTTGAGGCAC	0.597000														262			42		0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69006382	69006382	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:69006382T>C	uc002arj.4	+	6	1059	c.765_splice	c.e6+2	p.Q255_splice	CORO2B_uc021spj.1_Splice_Site_p.Q250_splice|CORO2B_uc010bic.3_Splice_Site_p.Q250_splice|CORO2B_uc002ark.3_Splice_Site_p.Q22_splice	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	255					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGGACCAGGTCAGCCACGGG	0.607000														89			5		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70901918	70901918	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70901918T>C	uc021vjc.1	-	13	1898	c.1633A>G	c.(1633-1635)Acc>Gcc	p.T545A	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.T545A|ADD2_uc002sgz.3_Missense_Mutation_p.T545A|ADD2_uc010fdt.2_Missense_Mutation_p.T545A	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	545					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TCGTCTTTGGTATCCTCGTCT	0.547000														155			54		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108214691	108214691	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108214691G>A	uc003dxa.1	-	7	764	c.707C>T	c.(706-708)gCg>gTg	p.A236V		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	236	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGTATTCGCTTGCATGAT	0.383000														21			8		0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140432001	140432001	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140432001G>A	uc003lik.1	+	0	1023	c.946G>A	c.(946-948)Gac>Aac	p.D316N		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	316	Cadherin 3.				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)			TGAAACATACGACATTGACAT	0.463000														164			33		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25959091	25959091	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25959091G>A	uc010ayu.3	-	9	2180	c.2074C>T	c.(2074-2076)Cgg>Tgg	p.R692W		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	692					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GCCTCGTACCGCAGCTCGCGC	0.667000														131			30		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166805950	166805950	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166805950A>G	uc002udk.3	-	2	349	c.216T>C	c.(214-216)tgT>tgC	p.C72C	TTC21B_uc002udl.3_Silent_p.C72C	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	72						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAAGTAGAGAACAAAGTGATA	0.299000														131			15		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53855957	53855957	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53855957T>C	uc010ydv.1	+	3	2146	c.2029T>C	c.(2029-2031)Tac>Cac	p.Y677H	ZNF845_uc010ydw.1_Missense_Mutation_p.Y677H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	677				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCGGAAGTCATACCTTACATG	0.398000														123			31		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90169956	90169956	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90169956C>T	uc003hsm.1	-	1	1825	c.1306G>A	c.(1306-1308)Gaa>Aaa	p.E436K	GPRIN3_uc021xqb.1_Missense_Mutation_p.E436K	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	436										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTCCCATCTTCTTTACACGTA	0.468000														195			26		0	0	1	0	0
FAM135A	57579	broad.mit.edu	37	6	71243497	71243497	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:71243497G>A	uc003pfj.3	+	15	4038	c.3905G>A	c.(3904-3906)cGt>cAt	p.R1302H	FAM135A_uc003pfi.3_Missense_Mutation_p.R1106H|FAM135A_uc003pfh.3_Missense_Mutation_p.R1089H|FAM135A_uc003pfl.3_Missense_Mutation_p.R969H|FAM135A_uc003pfn.3_Missense_Mutation_p.R508H|FAM135A_uc003pfo.1_Missense_Mutation_p.R673H|FAM135A_uc010kan.2_Missense_Mutation_p.R81H	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN	Homo sapiens family with sequence similarity 135, member A (FAM135A), transcript variant 3, mRNA.	1302								p.R1089H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGACTGATCGTCTTTTGGAT	0.254000														32			8		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43508880	43508880	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43508880G>A	uc002lbm.3	-	12	2608	c.2508C>T	c.(2506-2508)tcC>tcT	p.S836S	EPG5_uc002lbo.1_Silent_p.S836S	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	836					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCAGAAGGACGGAAATTATCT	0.398000														91			16		0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273018	18273018	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18273018C>T	uc002nia.1	+	7	1420	c.908C>T	c.(907-909)cCg>cTg	p.P303L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	303					T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.P303P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCAGCGCTGCCGCCTAAACCC	0.617000														56			4		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46008354	46008354	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46008354T>G	uc011bal.1	-	6	2584	c.2472A>C	c.(2470-2472)aaA>aaC	p.K824N	FYCO1_uc003cpb.4_Missense_Mutation_p.K824N	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	824					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCACAAGGGTTTTGTGCTCCC	0.607000														136			15		0	0	1	0	0
PDHA1	5160	broad.mit.edu	37	X	19373539	19373539	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:19373539C>T	uc004czg.4	+	6	821	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	PDHA1_uc004czh.4_Missense_Mutation_p.R264C|PDHA1_uc011mjc.2_Missense_Mutation_p.R233C|PDHA1_uc011mjd.2_Missense_Mutation_p.R195C|PDHA1_uc010nfl.3_Missense_Mutation_p.R17C	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TGAGAATAATCGCTATGGAAT	0.458000														225			63		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59112077	59112077	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59112077G>A	uc001xdw.3	+	3	900	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	DACT1_uc010trv.2_Intron|DACT1_uc001xdx.3_Intron|DACT1_uc010trw.2_Intron	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	246					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TTCCCTTGATGTCATTGCAGA	0.468000														131			30		0	0	1	0	0
ZFPM1	161882	broad.mit.edu	37	16	88600853	88600853	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88600853C>T	uc002fkv.3	+	9	2520	c.2487C>T	c.(2485-2487)ctC>ctT	p.L829L		NM_153813	NP_722520	Q8IX07	FOG1_HUMAN	Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA.	829					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCACAGCCTCGAGGCCTACC	0.756000														21			5		0	0	1	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86863294	86863294	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86863294T>C	uc003hpk.3	+	4	916	c.467T>C	c.(466-468)gTg>gCg	p.V156A	ARHGAP24_uc003hpj.3_Missense_Mutation_p.V156A|ARHGAP24_uc003hpl.3_Missense_Mutation_p.V61A|ARHGAP24_uc010ikf.3_Missense_Mutation_p.V71A|ARHGAP24_uc003hpm.3_Missense_Mutation_p.V63A	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	156	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCGATGTTGGTGGAGCAGTGC	0.473000														96			13		0	0	1	0	0
ZNF628	89887	broad.mit.edu	37	19	55993021	55993021	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55993021C>A	uc021vbv.1	+	0	449	c.449C>A	c.(448-450)cCc>cAc	p.P150H	ZNF628_uc002qld.2_Missense_Mutation_p.P150H	NM_033113	NP_149104	Q5EBL2	ZN628_HUMAN	Homo sapiens zinc finger protein 628 (ZNF628), mRNA.	150						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCGGACTGCCCCAAGGCCTTC	0.667000														92			17		1.02788e-11	1.17486e-11	1	1	0
ATOH7	220202	broad.mit.edu	37	10	69991175	69991175	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:69991175C>A	uc001jnq.3	-	0	696	c.260G>T	c.(259-261)aGc>aTc	p.S87I		NM_145178	NP_660161	Q8N100	ATOH7_HUMAN	Homo sapiens atonal homolog 7 (Drosophila) (ATOH7), mRNA.	87	Helix-loop-helix motif.				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CATGATGTAGCTCAGGGCCAT	0.637000														83			10		7.48243e-07	8.00842e-07	1	1	0
SMUG1	23583	broad.mit.edu	37	12	54575966	54575966	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54575966G>A	uc001sfg.2	-	3	874	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	SMUG1_uc001sfa.1_Non-coding_Transcript|SMUG1_uc009znf.2_Missense_Mutation_p.R243C|SMUG1_uc001sff.2_Missense_Mutation_p.R243C|SMUG1_uc001sfc.4_Intron|SMUG1_uc001sfb.4_Intron|SMUG1_uc001sfd.4_Intron|SMUG1_uc021qyn.1_Intron|SMUG1_uc001sfe.2_3'UTR	NM_001243787	NP_001230716	Q53HV7	SMUG1_HUMAN	Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA.	243					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGTGGGTTACGGGGAGAGGGA	0.642000								Base excision repair (BER), DNA glycosylases						217			49		0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027598	245027598	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245027598C>T	uc001iaz.1	-	0	230	c.12G>A	c.(10-12)tcG>tcA	p.S4S	HNRNPU_uc001iba.1_Silent_p.S4S	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	4	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|cell surface|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|RNA binding|protein binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATTAACAGGCGAGGAACTCA	0.602000														69			18		0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225651780	225651780	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225651780G>A	uc010fwz.1	-	49	5853	c.5614C>T	c.(5614-5616)Cgg>Tgg	p.R1872W	DOCK10_uc002vob.2_Missense_Mutation_p.R1866W|DOCK10_uc002voa.2_Missense_Mutation_p.R528W|DOCK10_uc002voc.2_Missense_Mutation_p.R693W	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1872	DHR-2.						GTP binding	p.F1872S(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCAAACAGCCGCTTCTCCGAA	0.433000														152			50		0	0	1	0	0
ZNF445	353274	broad.mit.edu	37	3	44488939	44488939	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44488939A>G	uc003cnf.2	-	7	2572	c.2224T>C	c.(2224-2226)Tct>Cct	p.S742P	ZNF445_uc011azv.1_Missense_Mutation_p.S730P|ZNF445_uc011azw.1_Missense_Mutation_p.S742P	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	742					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)		TGACTAAAAGATGGCCCGCCC	0.493000														124			29		0	0	1	0	0
EGFL7	51162	broad.mit.edu	37	9	139564693	139564693	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139564693G>A	uc004cid.3	+	6	1393	c.482G>A	c.(481-483)tGc>tAc	p.C161Y	EGFL7_uc010nbp.3_Missense_Mutation_p.C161Y|EGFL7_uc004cie.3_Missense_Mutation_p.C161Y|EGFL7_uc004cif.3_Missense_Mutation_p.C161Y|EGFL7_uc004cih.3_Missense_Mutation_p.C161Y|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	161	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AGTTACTGGTGCCAGTGTTGG	0.657000														92			25		0	0	1	0	0
DNAAF3	352909	broad.mit.edu	37	19	55672787	55672787	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55672787C>T	uc002qjl.1	-	7	870	c.868_splice	c.e7-1	p.A290_splice	DNAAF3_uc002qjh.1_Splice_Site_p.A37_splice|DNAAF3_uc002qji.1_Splice_Site_p.A222_splice|DNAAF3_uc002qjj.1_Splice_Site_p.A269_splice|DNAAF3_uc002qjk.1_Splice_Site_p.A168_splice	NM_178837	NP_849159	Q8N9W5	CS051_HUMAN	Homo sapiens chromosome 19 open reading frame 51 (C19orf51), mRNA.	222																	TGACTTGAGCCTGGGGTGGGG	0.662000														46			15		0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18544112	18544112	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18544112A>G	uc001rdt.3	+	13	2045	c.1929A>G	c.(1927-1929)agA>agG	p.R643R	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.R684R|PIK3C2G_uc010sic.2_Silent_p.R462R	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	643					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAGAGAATAGAAGTAATCTTG	0.383000														36			5		0	0	1	0	0
TSPYL1	7259	broad.mit.edu	37	6	116600781	116600781	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116600781G>A	uc003pwp.4	-	0	500	c.213C>T	c.(211-213)ccC>ccT	p.P71P	DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'UTR|DSE_uc003pwr.3_5'Flank|DSE_uc003pws.3_5'Flank	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN	Homo sapiens TSPY-like 1 (TSPYL1), mRNA.	71					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CGGCATCCTGGGGTACGCCCC	0.701000														180			13		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229419	140229419	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229419G>A	uc003lhu.2	+	0	2063	c.1339G>A	c.(1339-1341)Gac>Aac	p.D447N	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_uc003lht.1_Missense_Mutation_p.D447N	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	461	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I446M(1)		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)			GGAGGTGGCCGACGTGAACGA	0.667000														402			43		0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626577	122626577	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:122626577T>C	uc003yph.2	-	3	1969	c.1431A>G	c.(1429-1431)ggA>ggG	p.G477G		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	477						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAATGAGTCCTATGAAAT	0.408000														201			21		0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15654981	15654981	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15654981C>T	uc001rcv.2	+	4	1559	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	PTPRO_uc001rcw.2_Silent_p.I363I|PTPRO_uc001rcu.2_Silent_p.I363I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	363	Fibronectin type-III 4.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.I363N(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GGTTCCATATCCATATTGAAC	0.388000														95			16		0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42364020	42364020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42364020C>T	uc001zox.3	-	14	1620	c.1525G>A	c.(1525-1527)Gga>Aga	p.G509R		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	509	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		ATCAGCCGTCCCATGAAGAAC	0.612000														141			34		0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	89028501	89028501	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89028501G>A	uc001pcs.3	+	4	1639	c.1557G>A	c.(1555-1557)gaG>gaA	p.E519E		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	519					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGGAGAAAGAGGATTACCACA	0.488000														65			11		0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6035166	6035166	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6035166T>G	uc003spl.3	-	8	990	c.903_splice	c.e8+1	p.K301_splice	PMS2_uc003spj.3_Splice_Site_p.K195_splice|PMS2_uc003spk.3_Splice_Site_p.K166_splice|PMS2_uc011jwl.2_Splice_Site_p.K166_splice|PMS2_uc010ktg.3_Splice_Site|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Splice_Site_p.K301_splice	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	301					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		TTTAAATACCTTTGCTGGGTC	0.388000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					78			18		0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228195439	228195439	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228195439C>T	uc002vos.3	+	3	548	c.136C>T	c.(136-138)Cga>Tga	p.R46*	MFF_uc002vot.3_Nonsense_Mutation_p.R20*|MFF_uc002vow.3_Nonsense_Mutation_p.R20*|MFF_uc002voy.3_Nonsense_Mutation_p.R46*|MFF_uc021vxu.1_Nonsense_Mutation_p.R20*|MFF_uc002voz.3_Nonsense_Mutation_p.R20*	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	46						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						CATTAGTCAGCGAATGAGGGT	0.463000														59			25		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640253	7640253	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7640253G>A	uc001qsz.3	-	7	1880	c.1752C>T	c.(1750-1752)cgC>cgT	p.R584R	CD163_uc001qta.3_Silent_p.R584R|CD163_uc009zfw.2_Silent_p.R617R	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	584	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R584C(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATTCACCAAGCGAATTTCTG	0.498000														174			8		0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110454328	110454328	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110454328T>C	uc001pkz.1	-	13	1834	c.1549A>G	c.(1549-1551)Att>Gtt	p.I517V	ARHGAP20_uc001pky.1_Missense_Mutation_p.I494V|ARHGAP20_uc009yyb.1_Missense_Mutation_p.I481V|ARHGAP20_uc001pla.1_Missense_Mutation_p.I481V|ARHGAP20_uc001plb.2_Missense_Mutation_p.I60V	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	517	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S516R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GGCCAAAGAATACTTGGAGCG	0.418000														43			11		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115355411	115355411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115355411C>T	uc001lal.3	-	37	4671	c.4507G>A	c.(4507-4509)Gct>Act	p.A1503T	NRAP_uc009xyb.3_Missense_Mutation_p.A292T|NRAP_uc001laj.3_Missense_Mutation_p.A1503T|NRAP_uc001lak.3_Missense_Mutation_p.A1468T	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1503						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)		TTGAGGCGAGCTCGGGTGAAA	0.502000														141			36		0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7129389	7129389	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7129389G>A	uc002gez.1	-	14	2288	c.2006C>T	c.(2005-2007)cCg>cTg	p.P669L	MIR324_uc002gey.2_5'Flank|DVL2_uc010vtr.1_Missense_Mutation_p.P663L	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	669					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GCCAGGGGGCGGTCCATAGGG	0.667000														136			37		0	0	1	0	0
KCNA3	3738	broad.mit.edu	37	1	111216054	111216054	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111216054C>T	uc001dzv.1	-	0	1602	c.1378G>A	c.(1378-1380)Gtg>Atg	p.V460M		NM_002232	NP_002223	P22001	KCNA3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 3 (KCNA3), mRNA.	460						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGATCCCACAATCTTGCCC	0.537000														90			18		0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24619958	24619958	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24619958G>T	uc001wmn.1	+	7	1598	c.1349G>T	c.(1348-1350)aGc>aTc	p.S450I	RNF31_uc001wml.1_Missense_Mutation_p.S299I|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.S265I|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	450	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CCCTATGCCAGCTCTTTGGAA	0.612000														273			23		4.26978e-12	4.90093e-12	1	1	0
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:41420011C>T	uc002xkg.3	-	2	494	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_uc010ggj.3_Missense_Mutation_p.D104N	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	104	MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567000														102			23		0	0	1	0	0
BLM	641	broad.mit.edu	37	15	91328228	91328228	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91328228G>A	uc002bpr.3	+	13	2837	c.2740G>A	c.(2740-2742)Gct>Act	p.A914T	BLM_uc010uqh.2_Missense_Mutation_p.A914T|BLM_uc010uqi.2_Missense_Mutation_p.A539T|BLM_uc010bnx.3_Missense_Mutation_p.A914T	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	914	Helicase C-terminal.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			AGATGGGCTCGCTGCTCTTGC	0.473000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					100			23		0	0	1	0	0
DNTTIP1	116092	broad.mit.edu	37	20	44430041	44430041	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44430041C>T	uc002xpk.3	+	6	510	c.442_splice	c.e6-1	p.R148_splice		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	148						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				TTTCTTTTAGCGTGGCCGTCA	0.522000														169			29		0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580389	35580389	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35580389T>C	uc001bym.3	+	9	3104	c.2958T>C	c.(2956-2958)ttT>ttC	p.F986F	ZMYM1_uc001byn.3_Silent_p.F986F|ZMYM1_uc010ohu.2_Silent_p.F967F|ZMYM1_uc001byo.3_Silent_p.F626F|ZMYM1_uc009vut.3_Silent_p.F911F	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	986						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTCGGAGTTTGATTATTGCA	0.244000														39			4		0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034783	90034783	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90034783T>G	uc003hsk.3	+	0	816	c.658T>G	c.(658-660)Tta>Gta	p.L220V	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	220	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		TGCCACAGGTTTACACAAACT	0.423000														123			29		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622314	134622314	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134622314C>A	uc021qbc.1	-	57	7860	c.7759G>T	c.(7759-7761)Gca>Tca	p.A2587S		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	748										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGCTTGGTGCGGCAGCCCAT	0.632000														37			4		0.00909568	0.00920877	1	1	0
EYS	346007	broad.mit.edu	37	6	66205048	66205048	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66205048C>T	uc011dxu.1	-	3	794	c.256G>A	c.(256-258)Gat>Aat	p.D86N	EYS_uc003peq.3_Missense_Mutation_p.D86N|EYS_uc003per.1_Missense_Mutation_p.D86N|EYS_uc021zbn.1_Missense_Mutation_p.D86N|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	86					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAAGGATATCTCCTAATTGA	0.363000														114			22		0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123044174	123044174	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:123044174G>A	uc003egh.2	-	7	2083	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ADCY5_uc021xdd.1_Missense_Mutation_p.R345W|ADCY5_uc003egg.2_Missense_Mutation_p.R328W|ADCY5_uc003egi.1_Missense_Mutation_p.R254W	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	695					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		CTCACCATCCGCTTCATCTCC	0.627000														156			35		0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092390	50092390	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50092390A>G	uc001wws.4	-	2	2465	c.2384T>C	c.(2383-2385)gTt>gCt	p.V795A	NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.V747A	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.	795					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TATATTGTGAACCGTAGTTTT	0.358000														58			8		0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50944251	50944251	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50944251C>T	uc002psf.2	+	7	738	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	229					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ACGAGAAAATCGCCTTCCAGT	0.542000														43			10		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656713	46656713	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46656713G>T	uc003bhh.3	-	0	2507	c.2507C>A	c.(2506-2508)tCt>tAt	p.S836Y		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	836	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTCTGATAGAGATTCTATTAC	0.353000														53			13		1.5842e-08	1.73923e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179433050	179433050	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179433050C>T	uc021vsy.1	-	274	70330	c.70105G>A	c.(70105-70107)Gta>Ata	p.V23369I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17064I|TTN_uc021vta.1_Missense_Mutation_p.V16997I|TTN_uc021vtb.1_Missense_Mutation_p.V16872I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24296	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACATCCCATACTGTGGTGGTT	0.393000														75			23		0	0	1	0	0
SERHL2	253190	broad.mit.edu	37	22	42967184	42967184	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42967184C>T	uc003bcr.3	+	9	808	c.706C>T	c.(706-708)Ctg>Ttg	p.L236L	SERHL2_uc011apn.1_Silent_p.L253L|SERHL2_uc010gyz.3_Silent_p.L172L|SERHL2_uc010gyy.3_Non-coding_Transcript|SERHL2_uc011apo.2_Non-coding_Transcript|RRP7B_uc003bcs.3_Intron	NM_014509	NP_055324	Q9H4I8	SEHL2_HUMAN	Homo sapiens serine hydrolase-like 2 (SERHL2), mRNA.	236						perinuclear region of cytoplasm|peroxisome	hydrolase activity			breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CATCAGGAAGCTGCAGGCCCA	0.567000														81			18		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113348918	113348918	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113348918G>T	uc003ynu.3	-	43	7141	c.6982C>A	c.(6982-6984)Ctt>Att	p.L2328I	CSMD3_uc003yns.3_Missense_Mutation_p.L1530I|CSMD3_uc003ynt.3_Missense_Mutation_p.L2288I|CSMD3_uc011lhx.2_Missense_Mutation_p.L2224I|CSMD3_uc003ynw.1_Missense_Mutation_p.L39I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2328	CUB 13.					integral to membrane|plasma membrane		p.V2327L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTGTTTGAAGGACAGTAAAA	0.333000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				138			24		1.1804e-14	1.38988e-14	1	1	0
ELK3	2004	broad.mit.edu	37	12	96641197	96641197	+	Silent	SNP	C	T	T	rs142048091		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96641197C>T	uc001teo.1	+	2	966	c.687C>T	c.(685-687)aaC>aaT	p.N229N		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	229					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					TGTTGCCAAACGCTGCCAGTA	0.622000														308			66		0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85449460	85449460	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:85449460T>G	uc001tac.3	+	7	1000	c.889T>G	c.(889-891)Ttt>Gtt	p.F297V	LRRIQ1_uc021rbo.1_Missense_Mutation_p.F175V|LRRIQ1_uc001taa.1_Missense_Mutation_p.F272V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	297	Glu-rich.|IQ 1.									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)		ATATAAAGCATTTGTTGCCTA	0.299000														46			4		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714146	91714146	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91714146C>T	uc003ulg.3	+	34	8949	c.8724C>T	c.(8722-8724)gaC>gaT	p.D2908D	AKAP9_uc003ulf.3_Silent_p.D2900D|AKAP9_uc003uli.3_Silent_p.D2531D|AKAP9_uc003ulj.3_Silent_p.D678D|AKAP9_uc003ulk.3_Silent_p.D183D	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2912					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGGATCAGACTGGGGTCAGG	0.353000			T	BRAF	papillary thyroid									138			24		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639264	7639264	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7639264T>A	uc001qsz.3	-	9	2417	c.2289A>T	c.(2287-2289)ggA>ggT	p.G763G	CD163_uc001qta.3_Silent_p.G763G|CD163_uc009zfw.2_Silent_p.G796G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	763	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TAATGGCCTCTCCACAGCCCA	0.537000														338			49		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74649258	74649258	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74649258G>A	uc001dfy.4	-	1	303	c.111C>T	c.(109-111)ggC>ggT	p.G37G	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	37										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ttaaatgaaggccattgaact	0.333000														39			10		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19432968	19432968	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19432968G>A	uc010tcj.1	-	0		c.13142C>T								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TCAAGACTTCGTCATCTAATG	0.338000														69			8		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669691	99669691	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669691G>A	uc003uss.3	-	2	755	c.437C>T	c.(436-438)cCg>cTg	p.P146L	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Missense_Mutation_p.P139L|ZNF3_uc010lgj.3_Missense_Mutation_p.P103L|ZNF3_uc003usr.3_Missense_Mutation_p.P139L|ZNF3_uc003ust.4_Missense_Mutation_p.P139L			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	139					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GTTCCCCAGCGGCCTTTTCAG	0.478000														166			41		0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9538792	9538792	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9538792T>C	uc010coc.3	+	11	1650	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	WDR16_uc002gly.3_Missense_Mutation_p.V464A|WDR16_uc002glz.3_Missense_Mutation_p.V396A			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	464						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTCATCAGTGTCCTGCATT	0.537000														99			19		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50782713	50782713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50782713G>A	uc001zym.4	+	14	2725	c.2225G>A	c.(2224-2226)cGg>cAg	p.R742Q	USP8_uc001zyl.4_Missense_Mutation_p.R742Q|USP8_uc001zyn.4_Missense_Mutation_p.R742Q|USP8_uc010ufh.2_Missense_Mutation_p.R636Q|USP8_uc001zyp.4_5'Flank	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	742					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ACAGTTAATCGGGAAAACAAG	0.403000														120			13		0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12974954	12974954	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:12974954A>C	uc001rav.3	+	7	1096	c.498A>C	c.(496-498)agA>agC	p.R166S	DDX47_uc009zhw.1_Missense_Mutation_p.R166S|DDX47_uc001rax.3_Missense_Mutation_p.R166S|DDX47_uc001ray.3_Missense_Mutation_p.R166S|DDX47_uc010shn.1_3'UTR	NM_016355	NP_057439	Q9H0S4	DDX47_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 (DDX47), transcript variant 1, mRNA.	166	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TCAACTTGAGAGCTCTCAAAT	0.428000														82			14		0	0	1	0	0
TENC1	23371	broad.mit.edu	37	12	53456960	53456960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53456960G>A	uc001sbp.3	+	25	4046	c.3911G>A	c.(3910-3912)aGc>aAc	p.S1304N	TENC1_uc001sbl.3_Missense_Mutation_p.S1180N|TENC1_uc001sbn.3_Missense_Mutation_p.S1314N|TENC1_uc001sbq.3_Missense_Mutation_p.S702N|TENC1_uc001sbr.3_Intron|TENC1_uc009zmr.3_Missense_Mutation_p.S797N	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1304					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GCAGCTCTGAGCTGTAGCCCC	0.607000														163			12		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980530	121980530	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980530C>T	uc003eew.4	+	3	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_uc003eev.4_Silent_p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537000														261			60		0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27797740	27797740	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27797740C>T	uc003szl.3	+	2	435	c.253C>T	c.(253-255)Cta>Tta	p.L85L	TAX1BP1_uc011jzo.2_Silent_p.L85L|TAX1BP1_uc003szk.3_Silent_p.L85L|TAX1BP1_uc011jzp.2_5'UTR	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	85					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CAATTGTGTACTAGCATTCCA	0.388000														100			5		0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230805179	230805179	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:230805179C>T	uc001htw.3	+	6	823	c.672C>T	c.(670-672)gtC>gtT	p.V224V	COG2_uc001htx.3_Silent_p.V224V|COG2_uc010pwc.2_Silent_p.V97V	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	224					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CGTCTGACGTCGATATAATAC	0.493000														132			44		0	0	1	0	0
TMEM121	80757	broad.mit.edu	37	14	105995269	105995269	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105995269A>C	uc001yrp.1	+	1	249	c.98A>C	c.(97-99)aAc>aCc	p.N33T	abParts_uc021ser.1_Intron|TMEM121_uc021ses.1_Missense_Mutation_p.N33T|BC033241_uc001yrr.3_5'Flank	NM_025268	NP_079544	Q9BTD3	TM121_HUMAN	Homo sapiens transmembrane protein 121 (TMEM121), mRNA.	33						integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GTGGAGCAGAACCAGGGCCCG	0.687000														29			9		0	0	1	0	0
STRN	6801	broad.mit.edu	37	2	37082439	37082439	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37082439C>T	uc002rpn.3	-	14	1903	c.1894G>A	c.(1894-1896)Gca>Aca	p.A632T	STRN_uc010ezx.3_Missense_Mutation_p.A595T	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	632					Wnt receptor signaling pathway|dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				CTGAATGATGCTACCATATGG	0.388000														59			8		0	0	1	0	0
HPS5	11234	broad.mit.edu	37	11	18313060	18313060	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18313060G>A	uc001mod.1	-	15	2647	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	HPS5_uc001moe.1_Missense_Mutation_p.A676V|HPS5_uc001mof.1_Missense_Mutation_p.A676V	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	790						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ACTCTCCTTCGCTCTTTTCAA	0.398000									Hermansky-Pudlak syndrome					59			10		0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39767452	39767452	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39767452C>T	uc002hxg.4	-	3	941	c.802G>A	c.(802-804)Gga>Aga	p.G268R	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	268	Linker 12.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TTCACATCTCCGCCGGTCTGA	0.592000														184			35		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137269963	137269963	+	Missense_Mutation	SNP	C	T	T	rs111722170		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137269963C>T	uc003vtt.3	-	13	1556	c.1555G>A	c.(1555-1557)Gta>Ata	p.V519I	DGKI_uc003vtu.3_Missense_Mutation_p.V219I	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	519					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ACCTTACATACGCCATCTTCA	0.483000														146			24		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2760913	2760913	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:2760913G>A	uc009zdu.1	+	33	4510	c.4197G>A	c.(4195-4197)tgG>tgA	p.W1399*	CACNA1C_uc001qkc.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qjz.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkd.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qke.2_Nonsense_Mutation_p.W1340*|CACNA1C_uc001qkf.2_Nonsense_Mutation_p.W1340*|CACNA1C_uc009zdw.1_Nonsense_Mutation_p.W1373*|CACNA1C_uc001qkg.2_Nonsense_Mutation_p.W1338*|CACNA1C_uc001qkh.2_Nonsense_Mutation_p.W1340*|CACNA1C_uc001qkl.2_Nonsense_Mutation_p.W1399*|CACNA1C_uc001qkj.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkk.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkn.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkm.2_Nonsense_Mutation_p.W1340*|CACNA1C_uc001qko.2_Nonsense_Mutation_p.W1371*|CACNA1C_uc001qkp.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkq.2_Nonsense_Mutation_p.W1379*|CACNA1C_uc001qku.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkr.2_Nonsense_Mutation_p.W1368*|CACNA1C_uc001qks.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qkt.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc009zdv.1_Nonsense_Mutation_p.W1348*|CACNA1C_uc001qkb.2_Nonsense_Mutation_p.W1351*|CACNA1C_uc001qki.1_Nonsense_Mutation_p.W1087*|CACNA1C_uc010sea.1_Nonsense_Mutation_p.W42*	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1399					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGCTGTGGACCTTCATCA	0.632000														88			7		0	0	1	0	0
C19orf44	84167	broad.mit.edu	37	19	16611708	16611708	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16611708G>T	uc002neh.1	+	1	178	c.105G>T	c.(103-105)caG>caT	p.Q35H	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.Q35H|C19orf44_uc002neg.3_Missense_Mutation_p.Q35H|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	35										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAAACTTCCAGATCAGTAGAA	0.408000														196			12		0.000978159	0.0010017	1	1	0
CLEC9A	283420	broad.mit.edu	37	12	10206926	10206926	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10206926G>A	uc001qxa.3	+	4	761	c.148G>A	c.(148-150)Gca>Aca	p.A50T		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	50					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						ATTATTAACAGCATCCATTTT	0.323000														54			11		0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749890	2749890	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749890G>A	uc003jda.3	-	1	503	c.261C>T	c.(259-261)taC>taT	p.Y87Y	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.Y87Y	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	87						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGTGCGCGTCGTAGGGTGCGC	0.692000														129			24		0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128747261	128747261	+	Missense_Mutation	SNP	G	A	A	rs111795237		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128747261G>A	uc010fmd.2	-	12	1867	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	SAP130_uc002tpn.2_Missense_Mutation_p.P340S|SAP130_uc002tpp.2_Missense_Mutation_p.P579S|SAP130_uc002tpq.1_Missense_Mutation_p.P552S	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	579					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGTATCCCTGGGGTCCCAATG	0.572000														164			34		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94512539	94512539	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94512539T>C	uc001dqh.3	-	18	2958	c.2854A>G	c.(2854-2856)Acc>Gcc	p.T952A	ABCA4_uc010otn.1_Missense_Mutation_p.T878A	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	952	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGTAGAAGGTGATGTTCAGA	0.547000														242			33		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98592299	98592299	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98592299C>T	uc003upp.3	+	65	10304	c.10095C>T	c.(10093-10095)ccC>ccT	p.P3365P	TRRAP_uc011kis.2_Silent_p.P3336P|TRRAP_uc003upr.3_Silent_p.P3071P	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3365					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAATCACCCCCCACACTCTCA	0.532000														404			102		0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37201716	37201716	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37201716G>T	uc011cpa.1	-	18	3715	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.P237T|C5orf42_uc011cpb.1_Missense_Mutation_p.P43T	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1162										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			GCTGGCTGGGGACAGTACAAT	0.353000														124			25		9.04412e-07	9.6547e-07	1	1	0
NBEAL2	23218	broad.mit.edu	37	3	47042768	47042768	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47042768G>T	uc003cqp.3	+	29	4664	c.4485_splice	c.e29-1	p.S1495_splice	NBEAL2_uc010hjm.2_Splice_Site_p.S872_splice|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1495							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACCCGCCAGCCTCCTGGAG	0.627000														160			36		2.42023e-17	2.90129e-17	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53674485	53674485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:53674485G>A	uc004dsp.3	-	5	579	c.177C>T	c.(175-177)gaC>gaT	p.D59D		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	59					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						CATCGAAGCGGTCCAACAGGT	0.483000														155			29		0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790026	248790026	+	Missense_Mutation	SNP	C	T	T	rs150548690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248790026C>T	uc001ier.1	-	0	404	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R135C(2)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	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)			ACACTTCTTGCGGTTCATCAG	0.547000														142			23		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116066831	116066831	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116066831G>A	uc002tle.3	+	1	110	c.89G>A	c.(88-90)aGc>aAc	p.S30N	DPP10_uc002tla.2_Missense_Mutation_p.S26N|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_5'UTR|DPP10_uc002tlc.2_Missense_Mutation_p.S22N|DPP10_uc002tlf.2_Missense_Mutation_p.S19N	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	26	Mediates effects on KCND2.				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GGAAGTAACAGCCCTCCACAG	0.408000														58			24		0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11270930	11270930	+	Missense_Mutation	SNP	G	T	T	rs139709356	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11270930G>T	uc001asd.3	-	23	3716	c.3595C>A	c.(3595-3597)Ctg>Atg	p.L1199M		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1199					T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TGTCGCACCAGAACTTTATTC	0.398000														88			18		1.50039e-11	1.71053e-11	1	1	0
CCDC112	153733	broad.mit.edu	37	5	114615393	114615393	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:114615393A>G	uc003kqz.2	-	2	530	c.312T>C	c.(310-312)agT>agC	p.S104S	CCDC112_uc003kqy.2_Silent_p.S21S|CCDC112_uc003kra.2_Silent_p.S104S	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	21										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTTCTAGCATACTATGCTCAA	0.294000														34			8		0	0	1	0	0
SNX17	9784	broad.mit.edu	37	2	27598482	27598482	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27598482G>A	uc002rkg.1	+	9	1106	c.884G>A	c.(883-885)aGt>aAt	p.S295N	SNX17_uc010ylj.1_Missense_Mutation_p.S275N|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.S81N|SNX17_uc010yll.1_Missense_Mutation_p.S81N|SNX17_uc010ylm.1_Missense_Mutation_p.S81N|SNX17_uc010yln.1_Missense_Mutation_p.S283N|SNX17_uc010ylo.1_Missense_Mutation_p.S213N|SNX17_uc010ylp.1_Missense_Mutation_p.S270N|SNX17_uc010ylk.1_Missense_Mutation_p.S81N|SNX17_uc010eza.1_Missense_Mutation_p.S81N|SNX17_uc010ylq.1_Missense_Mutation_p.S81N	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	295					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGGGCAACAGTGAGCTCAGC	0.632000														296			64		0	0	1	0	0
GPSM1	26086	broad.mit.edu	37	9	139243186	139243186	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139243186G>A	uc004chd.2	+	9	1465	c.1245G>A	c.(1243-1245)gaG>gaA	p.E415E		NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	415	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	Golgi membrane|cytosol|endoplasmic reticulum membrane|plasma membrane	GTPase activator activity|binding			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		TGAGCGCGGAGACCTGGGACC	0.677000														48			11		0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549768	62549768	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549768C>T	uc001nvc.3	+	7	991	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	TAF6L_uc009yof.3_Missense_Mutation_p.R264W	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	264					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity	p.R264Q(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGGACTCTGCGGGATGGGGC	0.617000														206			46		0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43017878	43017878	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43017878C>T	uc003otq.3	-	5	1724	c.1392G>A	c.(1390-1392)tgG>tgA	p.W464*	CUL7_uc011dvb.2_Nonsense_Mutation_p.W548*|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	464					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCATGGGCCTCCAGCGCCAGG	0.577000														256			11		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133791235	133791235	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133791235T>G	uc001qgx.4	-	17	2616	c.2385A>C	c.(2383-2385)gaA>gaC	p.E795D		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	795						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CGTCGGAGGATTCTGACGGCG	0.657000														68			21		0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62856945	62856945	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62856945G>A	uc002jey.2	-	10	3935	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	LRRC37A3_uc010wqg.1_Nonsense_Mutation_p.Q225*|LRRC37A3_uc002jex.1_Nonsense_Mutation_p.Q84*|LRRC37A3_uc010wqf.1_Nonsense_Mutation_p.Q145*|LRRC37A3_uc010dek.1_Nonsense_Mutation_p.Q113*|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1107						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGTCTAGCTGCTCACTCCCA	0.463000														479			89		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265481	53265481	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53265481G>A	uc003dgo.3	-	6	1006	c.834C>T	c.(832-834)atC>atT	p.I278I	TKT_uc003dgp.2_5'Flank|TKT_uc011beo.1_Silent_p.I231I|TKT_uc003dgq.3_Silent_p.I278I|TKT_uc011beq.2_Silent_p.I286I|TKT_uc011ber.2_Silent_p.I80I	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	278					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	TTTTGCTCTGGATCTGGCTGT	0.552000														105			23		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201035407	201035407	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201035407G>T	uc001gvv.3	-	20	2922	c.2695C>A	c.(2695-2697)Ctg>Atg	p.L899M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	899					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCACCCTCAGCACCCTCAGG	0.652000														181			49		4.0306e-16	4.79473e-16	1	1	0
IFT122	55764	broad.mit.edu	37	3	129200409	129200409	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:129200409G>A	uc003eml.3	+	14	1884	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I	IFT122_uc003emm.3_Missense_Mutation_p.V509I|IFT122_uc003emn.3_Missense_Mutation_p.V450I|IFT122_uc003emo.3_Missense_Mutation_p.V398I|IFT122_uc003emp.3_Missense_Mutation_p.V359I|IFT122_uc010htc.3_Missense_Mutation_p.V501I|IFT122_uc011bky.2_Missense_Mutation_p.V300I|IFT122_uc011bla.2_Missense_Mutation_p.V300I|IFT122_uc003emr.3_Missense_Mutation_p.V300I|IFT122_uc011bkx.1_Missense_Mutation_p.V349I|IFT122_uc011bkz.1_Non-coding_Transcript|IFT122_uc010htd.1_5'UTR	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	509					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTTTGCTATCGTCCTGCTGAA	0.517000														58			13		0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64475030	64475030	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:64475030T>G	uc001dbj.2	+	1	544	c.145T>G	c.(145-147)Tca>Gca	p.S49A	ROR1_uc001dbi.4_Missense_Mutation_p.S49A	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	49	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATGGAACATCTCAAGTGAACT	0.443000														168			64		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588472	247588472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588472T>C	uc001icr.3	+	4	1865	c.1727T>C	c.(1726-1728)gTt>gCt	p.V576A	NLRP3_uc001ics.3_Missense_Mutation_p.V576A|NLRP3_uc001icu.3_Missense_Mutation_p.V576A|NLRP3_uc001icw.3_Missense_Mutation_p.V576A|NLRP3_uc001icv.3_Missense_Mutation_p.V576A|NLRP3_uc010pyw.2_Missense_Mutation_p.V574A|NLRP3_uc001ict.1_Missense_Mutation_p.V574A	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	576					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)			TTGATTTTTGTTGTACGTTTC	0.473000														85			26		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76912528	76912528	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76912528G>A	uc001oyb.2	+	35	5160	c.4888G>A	c.(4888-4890)Gga>Aga	p.G1630R	MYO7A_uc010rsm.1_Missense_Mutation_p.G1581R|MYO7A_uc001oyc.2_Missense_Mutation_p.G1592R|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.G802R|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1630	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTTTGCCAAGGGAGACCTCAT	0.597000														70			15		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048181	61048181	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61048181C>A	uc001nra.3	-	8	1518	c.1239G>T	c.(1237-1239)aaG>aaT	p.K413N	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	413	VWFC 1.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CACAGGTCACCTTCCCGTCCT	0.602000														93			19		5.03518e-11	5.70985e-11	1	1	0
PRSS16	10279	broad.mit.edu	37	6	27219637	27219637	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27219637G>T	uc003nja.3	+	7	841	c.826G>T	c.(826-828)Ggc>Tgc	p.G276C	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	276					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGGGCCCCTGGGCCGCGCTGA	0.701000														113			29		3.73988e-18	4.50785e-18	1	1	0
TUBGCP6	85378	broad.mit.edu	37	22	50682221	50682221	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50682221G>A	uc003bkb.1	-	0	1180	c.668C>T	c.(667-669)aCt>aTt	p.T223I	TUBGCP6_uc010har.1_Missense_Mutation_p.T223I|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hau.1_Missense_Mutation_p.T223I	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	223					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CATGTCATAAGTGCGGCTGTG	0.577000														106			13		0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506423	178506423	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178506423C>T	uc003mju.3	+	4	1105	c.990C>T	c.(988-990)tgC>tgT	p.C330C		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C330C(2)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTATAAATGCGGCGAATGTG	0.433000														290			54		0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16641582	16641582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16641582G>A	uc002nei.1	-	5	858	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	262	CID.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						CCACGCACCCGGGCGATCTTC	0.697000														164			33		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26866564	26866564	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26866564C>T	uc001zbb.3	-	4	629	c.526G>A	c.(526-528)Gac>Aac	p.D176N	GABRB3_uc021sgg.1_Missense_Mutation_p.D49N|GABRB3_uc021sgh.1_Missense_Mutation_p.D35N|GABRB3_uc001zaz.3_Missense_Mutation_p.D120N|GABRB3_uc001zba.3_Missense_Mutation_p.D120N|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	120					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.D120Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATATGTGTCGGGCACCCAT	0.463000														145			34		0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86585163	86585163	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86585163C>G	uc004ang.4	-	15	1499	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	HNRNPK_uc011lsw.2_Missense_Mutation_p.E185D|HNRNPK_uc004and.4_Missense_Mutation_p.E185D|HNRNPK_uc004anf.4_Missense_Mutation_p.E425D|HNRNPK_uc004anh.4_Missense_Mutation_p.E401D|HNRNPK_uc011lsx.2_Missense_Mutation_p.E401D|HNRNPK_uc004anl.4_Missense_Mutation_p.E425D|HNRNPK_uc004anm.4_Missense_Mutation_p.E425D|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	425	KH 3.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CTTCTAAAGGCTCATCAATTT	0.408000														82			10		0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919785	30919785	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30919785A>C	uc003nsg.2	+	1	3544	c.3544A>C	c.(3544-3546)Aga>Cga	p.R1182R		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	313						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAACCACAAGAACCCCAGA	0.468000														77			32		0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869270	31869270	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31869270G>T	uc011acz.2	-	0	159	c.159C>A	c.(157-159)tgC>tgA	p.C53*		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	53						intermediate filament		p.C53C(2)		central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCTCCATAGCATGATGGGC	0.473000														300			30		3.57733e-08	3.90296e-08	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68725349	68725349	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68725349A>G	uc003hdq.3	-	1	121	c.56T>C	c.(55-57)gTa>gCa	p.V19A	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Intron	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	19					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AATGAAACATACTACATATGG	0.388000														65			11		0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31118509	31118509	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31118509G>T	uc003nsp.4	-	5	1283	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	CCHCR1_uc011dne.2_Missense_Mutation_p.T276N|CCHCR1_uc003nsq.4_Missense_Mutation_p.T329N|CCHCR1_uc003nsr.4_Missense_Mutation_p.T276N|CCHCR1_uc010jsk.1_Missense_Mutation_p.T276N	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	276					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CACCTGCATGGTTTCCAGAAG	0.542000														376			97		1.40862e-40	1.79111e-40	1	1	0
ZZZ3	26009	broad.mit.edu	37	1	78031830	78031830	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78031830G>A	uc001dhq.3	-	13	2979	c.2503C>T	c.(2503-2505)Cgg>Tgg	p.R835W	ZZZ3_uc001dhr.3_Missense_Mutation_p.R341W|ZZZ3_uc001dhp.3_Missense_Mutation_p.R834W	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CAATGCCACCGAACACCCTGG	0.383000														33			11		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162549	49162549	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49162549C>T	uc003cwe.3	-	19	3073	c.2774G>A	c.(2773-2775)cGg>cAg	p.R925Q	LAMB2_uc003cwf.1_Missense_Mutation_p.R925Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	925	Laminin EGF-like 8.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.R925W(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGGACAGGGCCGGCACTGGCC	0.607000														122			26		0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228807	77228807	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77228807C>A	uc002fez.3	+	3	1381	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	MON1B_uc010vnf.2_Missense_Mutation_p.L242M|MON1B_uc010vng.2_Missense_Mutation_p.L205M|MON1B_uc002ffa.3_Missense_Mutation_p.L231M	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	351							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TGTCTGCCTGCTGCTGCTTGG	0.637000														230			75		8.92729e-27	1.11678e-26	1	1	0
INTS4	92105	broad.mit.edu	37	11	77639550	77639550	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77639550C>A	uc001oys.3	-	10	1237	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.Q403H	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	403					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGGGTGAAGACTGGGCCAACA	0.468000														28			13		4.36969e-10	4.89342e-10	1	1	0
BBS2	583	broad.mit.edu	37	16	56548368	56548368	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56548368T>A	uc002ejd.2	-	1	576	c.342A>T	c.(340-342)agA>agT	p.R114S	BBS2_uc010ccg.2_Missense_Mutation_p.R114S	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN	Homo sapiens Bardet-Biedl syndrome 2 (BBS2), mRNA.	114					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TACTTGCCTCTCTGTAGAACA	0.353000									Bardet-Biedl syndrome					80			26		0	0	1	0	0
EIF2D	1939	broad.mit.edu	37	1	206773132	206773132	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:206773132C>A	uc001heh.2	-	8	1216	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	EIF2D_uc009xbw.2_Missense_Mutation_p.S212I	NM_006893	NP_008824	P41214	EIF2D_HUMAN	Homo sapiens eukaryotic translation initiation factor 2D (EIF2D), transcript variant 1, mRNA.	336					intracellular protein transport	cytoplasm	protein binding|receptor activity|translation initiation factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						CACCCCTTTGCTCAGCTCCTT	0.582000														195			32		7.11191e-15	8.38269e-15	1	1	0
SGPP1	81537	broad.mit.edu	37	14	64152848	64152848	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64152848A>G	uc001xgj.3	-	2	1395	c.1301T>C	c.(1300-1302)aTa>aCa	p.I434T		NM_030791	NP_110418	Q9BX95	SGPP1_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 1 (SGPP1), mRNA.	434						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AAAGAAAAATATGTAAGGAAC	0.343000														38			5		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1014397	1014397	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1014397C>T	uc002lqr.1	-	1	447	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C19orf6_uc002lqs.1_Missense_Mutation_p.V101M	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	101						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGTCACGCACATGCTCCAGG	0.652000														94			14		0	0	1	0	0
SKA3	221150	broad.mit.edu	37	13	21732194	21732194	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:21732194G>A	uc001unt.3	-	6	1111	c.986C>T	c.(985-987)tCg>tTg	p.S329L	SKA3_uc001unu.3_Missense_Mutation_p.S329L|SKA3_uc001unv.3_Missense_Mutation_p.S247L	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	Homo sapiens spindle and kinetochore associated complex subunit 3 (SKA3), transcript variant 1, mRNA.	329					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TAAAACCAACGAAGTACGATC	0.333000														140			16		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45949758	45949758	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45949758G>A	uc002zfe.1	-	4	779	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPEAR_uc010gpv.1_Missense_Mutation_p.A170V	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	238					cell adhesion	extracellular region	structural molecule activity	p.A238V(2)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						GGACAGCACCGCCAGCGGGGC	0.642000														101			24		0	0	1	0	0
HIPK4	147746	broad.mit.edu	37	19	40889978	40889978	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40889978C>T	uc002onp.3	-	1	819	c.534G>A	c.(532-534)tcG>tcA	p.S178S		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	178	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			GGTAGAAGCGCGACTGGATGT	0.637000														163			30		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134319600	134319600	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134319600C>A	uc004can.4	+	4	553	c.498C>A	c.(496-498)tcC>tcA	p.S166S	PRRC2B_uc004cam.1_Silent_p.S166S	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	166							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						GACTGTTATCCTTCTCTCCCG	0.542000														62			16		4.7546e-09	5.25358e-09	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18671647	18671647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18671647G>A	uc004cym.3	+	20	3329	c.3076G>A	c.(3076-3078)Gca>Aca	p.A1026T	CDKL5_uc004cyn.3_Missense_Mutation_p.A1026T|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	1026					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGAGAATGCGGCACTGACGGG	0.517000														43			20		0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20094192	20094192	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20094192C>T	uc002zri.3	+	10	2396	c.1967C>T	c.(1966-1968)gCg>gTg	p.A656V	DGCR8_uc010grz.3_Missense_Mutation_p.A623V|DGCR8_uc002zrj.3_Missense_Mutation_p.A299V	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	656	DRBM 2.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TACGTCATGGCGTGTGGCAAG	0.567000														126			21		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52357889	52357889	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357889C>T	uc011bef.2	+	2	660	c.399C>T	c.(397-399)acC>acT	p.T133T	DNAH1_uc003ddt.1_Silent_p.T133T	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	133	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACAAGTTCACCCCAAGAGGTC	0.567000														13			3		0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009471	5009471	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5009471C>A	uc001lzv.3	+	0	48	c.30C>A	c.(28-30)atC>atA	p.I10I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	10					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGTTACTATCTTCTTGCCCT	0.488000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		185			31		3.90053e-15	4.60698e-15	1	1	0
APOH	350	broad.mit.edu	37	17	64216739	64216739	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64216739C>T	uc002jfn.4	-	4	596	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_000042	NP_000033	P02749	APOH_HUMAN	Homo sapiens apolipoprotein H (beta-2-glycoprotein I) (APOH), mRNA.	179	Sushi 3.				blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding	p.A179A(2)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTCCAAACATCGCATGTTGTG	0.418000														119			25		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134158066C>T	uc010quw.1	+	4	660	c.465C>T	c.(463-465)ctC>ctT	p.L155L	LRRC27_uc001llf.2_Silent_p.L155L|LRRC27_uc010quv.1_Silent_p.L155L|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.L155L|LRRC27_uc001llj.2_Silent_p.L93L|LRRC27_uc001llk.4_Silent_p.L28L	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	155										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512000														167			26		0	0	1	0	0
PLK1S1	55857	broad.mit.edu	37	20	21142511	21142511	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21142511G>A	uc002wsb.3	+	5	539	c.406_splice	c.e5-1	p.V136_splice	PLK1S1_uc010zsh.2_Splice_Site_p.V33_splice|PLK1S1_uc010zsi.2_Splice_Site_p.V3_splice|PLK1S1_uc010zsj.2_Splice_Site|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_5'Flank	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	136					spindle organization	centrosome	protein kinase binding										TGGTGTTGCAGGTTGCAGTGC	0.408000														53			9		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20130691	20130691	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20130691C>T	uc002zrr.2	+	9	1645	c.1538C>T	c.(1537-1539)gCa>gTa	p.A513V	ZDHHC8_uc002zrq.3_Missense_Mutation_p.A513V|ZDHHC8_uc010gsa.3_Missense_Mutation_p.A319V	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	513						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CATCCTGGGGCAACGGGCGAC	0.721000														176			40		0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31590622	31590622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31590622C>T	uc003nvb.4	+	1	305	c.56C>T	c.(55-57)tCg>tTg	p.S19L	PRRC2A_uc011dnv.1_Non-coding_Transcript|PRRC2A_uc003nvc.4_Missense_Mutation_p.S19L|SNORA38_uc003nvd.3_5'Flank|PRRC2A_uc003nve.3_5'Flank	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	19						cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AAGTATTCCTCGCTCAACCTG	0.522000														344			32		0	0	1	0	0
ANKRD52	283373	broad.mit.edu	37	12	56641840	56641840	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56641840G>A	uc001skm.4	-	17	2035	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	649							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TTGCGCTTGCGCTCCTTGATG	0.642000														73			18		0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841551	8841551	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8841551G>A	uc010xkg.2	+	0	161	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGACTCCCGGCTCCATACA	0.552000														171			42		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202632036	202632036	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202632036T>G	uc002uyo.3	-	2	447	c.91A>C	c.(91-93)Aca>Cca	p.T31P	ALS2_uc002uyp.4_Missense_Mutation_p.T31P|ALS2_uc002uyq.3_Missense_Mutation_p.T31P|ALS2_uc002uyr.3_Missense_Mutation_p.T31P	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	31					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CTCTCTGGTGTTATGGGAAAG	0.473000														58			27		0	0	1	0	0
MYOT	9499	broad.mit.edu	37	5	137219167	137219167	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137219167G>A	uc011cye.2	+	6	928	c.911G>A	c.(910-912)gGt>gAt	p.G304D	MYOT_uc003lbv.3_Missense_Mutation_p.G304D|MYOT_uc011cyg.2_Missense_Mutation_p.G120D|MYOT_uc011cyh.2_Missense_Mutation_p.G189D	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	304	Ig-like C2-type 1.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTGAGAAGGGTCTTCATTCA	0.448000														127			23		0	0	1	0	0
BUB1	699	broad.mit.edu	37	2	111398943	111398943	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:111398943C>A	uc002tgc.3	-	21	2836	c.2724G>T	c.(2722-2724)gtG>gtT	p.V908V	BUB1_uc010yxh.2_Silent_p.V888V|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	908	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)		CACAGTCATGCACTTGCTCAA	0.373000														170			40		1.49673e-21	1.83874e-21	1	1	0
INTS1	26173	broad.mit.edu	37	7	1525106	1525106	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1525106C>A	uc003skn.2	-	23	3078	c.2977_splice	c.e23-1	p.G993_splice	INTS1_uc003skp.1_Splice_Site_p.G340_splice	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	993					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGACAAACCCTGTGGCAGAC	0.672000														79			18		1.02788e-11	1.17486e-11	1	1	0
FAT3	120114	broad.mit.edu	37	11	92258078	92258078	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92258078A>G	uc001pdj.4	+	1	3588	c.3571A>G	c.(3571-3573)Aat>Gat	p.N1191D		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1191	Cadherin 11.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACAAGTGGAAATCCTCAGAA	0.383000										TCGA Ovarian(4;0.039)				50			8		0	0	1	0	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784609	20784609	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20784609A>G	uc021rnp.1	-	4	685	c.74T>C	c.(73-75)gTc>gCc	p.V25A	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.V25A|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.V25A|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.V25A|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.V25A|CCNB1IP1_uc010ahh.1_Non-coding_Transcript	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	25						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GCAGGCAGTGACCCATGCATA	0.473000			T	HMGA2	leiomyoma									106			17		0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17422552	17422552	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17422552T>G	uc011kye.2	+	11	2042	c.1994T>G	c.(1993-1995)gTt>gGt	p.V665G	SLC7A2_uc011kyc.2_Missense_Mutation_p.V625G|SLC7A2_uc011kyd.2_Missense_Mutation_p.V664G	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	625					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CCAGACAACGTTCATGCAGCA	0.408000														52			4		0	0	1	0	0
SNAP91	9892	broad.mit.edu	37	6	84417642	84417642	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84417642G>A	uc021zcf.1	-	0	35	c.5C>T	c.(4-6)tCg>tTg	p.S2L	SNAP91_uc003pka.3_Missense_Mutation_p.S2L|SNAP91_uc011dze.2_Missense_Mutation_p.S2L|SNAP91_uc003pkc.3_Missense_Mutation_p.S2L|SNAP91_uc003pkd.3_Missense_Mutation_p.S2L|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	2					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding	p.S2S(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CGTTTGGCCCGACATCTTCTG	0.587000														92			24		0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2076037	2076037	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2076037A>G	uc002fub.1	-	12	3327	c.3272T>C	c.(3271-3273)cTg>cCg	p.L1091P	SMG6_uc010vqv.1_Missense_Mutation_p.L183P|SMG6_uc002fud.2_Missense_Mutation_p.L1060P	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	1091					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ATCCTCTTCCAGGATAAGAAG	0.562000														125			27		0	0	1	0	0
C3orf17	25871	broad.mit.edu	37	3	112736400	112736400	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112736400C>T	uc003dzr.3	-	1	217	c.156G>A	c.(154-156)tcG>tcA	p.S52S	C3orf17_uc011bia.2_Intron|C3orf17_uc003dzu.3_Silent_p.S51S|C3orf17_uc011bib.2_Intron|C3orf17_uc011bic.2_Intron|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Intron|C3orf17_uc003dzt.3_Intron|C3orf17_uc003dzs.3_Intron|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	52						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GGCTCTTCAGCGACAGTATGA	0.418000														151			29		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104416127	104416127	+	Missense_Mutation	SNP	C	T	T	rs145135383		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104416127C>T	uc001kvz.2	+	4	1156	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	345						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCAGCTGCGGAAAATGCT	0.597000														54			16		0	0	1	0	0
UBE2S	27338	broad.mit.edu	37	19	55913000	55913000	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55913000G>A	uc002qkx.1	-	3	841	c.473C>T	c.(472-474)gCc>gTc	p.A158V		NM_014501	NP_055316	Q16763	UBE2S_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2S (UBE2S), mRNA.	158					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	anaphase-promoting complex	ATP binding|ubiquitin-protein ligase activity			lung(1)	1	Breast(117;0.155)		LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.11)		GGGCCCGCCGGCGCCCCCGTG	0.731000														52			12		0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90049503	90049503	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:90049503C>T	uc001tbh.3	-	0	342	c.161G>A	c.(160-162)gGa>gAa	p.G54E	ATP2B1_uc001tbg.3_Missense_Mutation_p.G54E	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	54					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATAGACATCTCCATAGCTTTC	0.403000														90			20		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228444434	228444434	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228444434C>T	uc009xez.1	+	14	4436	c.4392C>T	c.(4390-4392)tgC>tgT	p.C1464C	OBSCN_uc001hsn.3_Silent_p.C1464C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1464	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACTCAGCTGCGAGGTGGCTC	0.637000														157			8		0	0	1	0	0
SLC2A4RG	56731	broad.mit.edu	37	20	62372827	62372827	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62372827G>A	uc002ygq.3	+	2	441	c.386G>A	c.(385-387)aGc>aAc	p.S129N	SLC2A4RG_uc002ygr.3_Missense_Mutation_p.S24N|SLC2A4RG_uc011abj.2_Missense_Mutation_p.S24N|SLC2A4RG_uc002ygs.3_5'UTR	NM_020062	NP_064446	Q9NR83	S2A4R_HUMAN	Homo sapiens SLC2A4 regulator (SLC2A4RG), mRNA.	129						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCAGCCTTCAGCCCAGGTAAG	0.627000														80			9		0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65671660	65671660	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65671660T>C	uc002jgc.3	+	8	1029	c.682_splice	c.e8+2	p.D228_splice	PITPNC1_uc002jgb.3_Splice_Site_p.D228_splice	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	228					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			AGTGGTATGGTAAGTCAATTT	0.408000														104			20		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39798503	39798503	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39798503C>T	uc002okw.2	-	1	2086	c.2086G>A	c.(2086-2088)Gcc>Acc	p.A696T		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	696						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		p.G696R(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTCGGCCGGGCCGCGGCTCCC	0.716000														41			12		0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45150592	45150592	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45150592G>A	uc002ozm.3	+	1	476	c.177G>A	c.(175-177)acG>acA	p.T59T	PVR_uc010ejs.3_Silent_p.T59T|PVR_uc010xxb.2_Silent_p.T59T|PVR_uc010xxc.2_Silent_p.T59T|PVR_uc002ozn.3_Silent_p.T4T	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	59	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TGGAGGTGACGCATGTGTCAC	0.647000														38			9		0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375468	85375468	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85375468G>A	uc001pas.2	-	0	715	c.452C>T	c.(451-453)gCc>gTc	p.A151V	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	151					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E150D(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCAGCCGCGGCCTCATCGTC	0.647000														133			38		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78403609	78403609	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78403609C>T	uc010ums.1	-	2	417	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612000														117			23		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185149	38185149	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38185149C>A	uc009vvi.3	-	14	2779	c.2693G>T	c.(2692-2694)aGc>aTc	p.S898I	EPHA10_uc001cbt.3_Intron|EPHA10_uc009vvh.2_Intron|EPHA10_uc001cbu.3_Intron|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	898	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTCAGGATGCTGTGGATCTG	0.612000														61			15		1.67942e-08	1.84125e-08	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60902995	60902995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60902995C>T	uc002ycq.3	-	35	4791	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H	LAMA5_uc021wfw.1_Missense_Mutation_p.R1575H	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1575	Laminin EGF-like 14.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R1575H(2)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCACAGGGGCGGCAGCGGGG	0.682000														181			9		0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146275891	146275891	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146275891C>A	uc003qlf.3	-	1	967	c.568G>T	c.(568-570)Ggg>Tgg	p.G190W	SHPRH_uc003qle.3_Missense_Mutation_p.G190W|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.G79W	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	190					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGTAGCCACCCCAAATCTTCT	0.378000														81			19		3.32936e-07	3.57961e-07	1	1	0
ARHGEF25	115557	broad.mit.edu	37	12	58005689	58005689	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58005689G>A	uc001spb.3	+	0	472	c.12G>A	c.(10-12)ggG>ggA	p.G4G	ARHGEF25_uc009zpy.3_Intron|ARHGEF25_uc001soz.1_Intron|ARHGEF25_uc001spa.3_5'UTR	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 25 (ARHGEF25), transcript variant 1, mRNA.	4					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						TGCGGGGGGGGCACAAAGGGG	0.761000														25			6		0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72500759	72500759	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:72500759C>T	uc001jrg.3	+	11	1774	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ADAMTS14_uc001jrh.3_Missense_Mutation_p.R589C|ADAMTS14_uc001jri.1_Missense_Mutation_p.R112C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	589	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTATGGAGGCCGCCTGTGCTT	0.627000														93			24		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575012	142575012	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142575012C>T	uc003wbx.2	-	3	599	c.370G>A	c.(370-372)Gct>Act	p.A124T	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	124					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TTCACAACAGCGATGTGCAGT	0.627000														164			26		0	0	1	0	0
DLAT	1737	broad.mit.edu	37	11	111899614	111899614	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111899614C>T	uc001pmo.3	+	3	1264	c.605C>T	c.(604-606)tCg>tTg	p.S202L	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Missense_Mutation_p.S146L	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	GCCACTGCTTCGCCACCTACA	0.532000														195			49		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114526473	114526473	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114526473C>T	uc001vug.3	-	4	1683	c.631G>A	c.(631-633)Gtg>Atg	p.V211M	GAS6_uc001vud.3_Missense_Mutation_p.V510M|GAS6_uc001vuf.3_Missense_Mutation_p.V237M	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	553	EGF-like 3; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				ATGTGAGCCACGACTTCTACT	0.607000														184			31		0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560065	32560065	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:32560065G>T	uc001wrl.3	+	1	429	c.190G>T	c.(190-192)Gga>Tga	p.G64*	ARHGAP5_uc001wrm.3_Nonsense_Mutation_p.G64*|ARHGAP5_uc001wrn.3_Nonsense_Mutation_p.G64*|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	64					Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TGACTTTGGAGGACGAGTAGT	0.368000														149			26		2.48779e-11	2.83162e-11	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176526268	176526268	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176526268G>A	uc001gkz.3	+	1	1974	c.810G>A	c.(808-810)gaG>gaA	p.E270E	PAPPA2_uc001gky.1_Silent_p.E270E|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	270					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGAGGCGGGAGCGGCTGCTGC	0.572000														92			29		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101436160	101436160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101436160G>A	uc010svm.1	+	11	1640	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	ANO4_uc001thw.2_Nonsense_Mutation_p.W321*|ANO4_uc001thx.2_Nonsense_Mutation_p.W356*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	356						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGTTGGGCTGGTACACCGGCA	0.483000										HNSCC(74;0.22)				83			20		0	0	1	0	0
OGG1	4968	broad.mit.edu	37	3	9807626	9807626	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9807626C>A	uc003bsm.3	+	6	1425	c.1082C>A	c.(1081-1083)tCc>tAc	p.S361Y	OGG1_uc003bsl.3_3'UTR|OGG1_uc003bsk.3_3'UTR|OGG1_uc003bsn.3_Missense_Mutation_p.S294Y|OGG1_uc003bso.3_3'UTR|CAMK1_uc003bst.3_Intron	NM_016821	NP_058214	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 2a, mRNA.	0					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CAGCTTCCCTCCAGCCTCTCC	0.577000								Base excision repair (BER), DNA glycosylases						93			24		2.39556e-15	2.83283e-15	1	1	0
CNTNAP1	8506	broad.mit.edu	37	17	40837321	40837321	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40837321G>A	uc002iay.3	+	4	814	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	200					axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGACGTGTTCGCCTTCAGCTT	0.642000														148			47		0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139325493	139325493	+	Silent	SNP	C	T	T	rs150464071		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139325493C>T	uc004cho.3	-	7	2011	c.1626G>A	c.(1624-1626)acG>acA	p.T542T	INPP5E_uc010nbm.3_Silent_p.T541T	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	542						Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		TGCTGTCGTACGTGTCCTTCC	0.617000														83			16		0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156840997	156840997	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156840997A>G	uc003ipf.1	+	11	1140	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	359					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AGTGATAGGTACAAGGTATTT	0.303000														31			7		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426094	125426094	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:125426094G>A	uc001lhh.3	+	0	224	c.171G>A	c.(169-171)gtG>gtA	p.V57V		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	57					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				TGTGCACCGTGGTCAACATGC	0.721000														33			4		0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58152484	58152484	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58152484G>A	uc002qpr.2	+	5	1125	c.822G>A	c.(820-822)gaG>gaA	p.E274E	ZNF211_uc010yhb.1_Silent_p.E214E|ZNF211_uc002qpp.2_Silent_p.E223E|ZNF211_uc002qpq.2_Silent_p.E210E|ZNF211_uc002qpt.2_Silent_p.E222E|ZNF211_uc010yhc.1_Silent_p.E222E|ZNF211_uc010yhe.1_Silent_p.E201E|ZNF211_uc010yhd.1_Silent_p.E149E	NM_006385	NP_006376	Q13398	ZN211_HUMAN	Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA.	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K274K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACAGGGGAGAAGCCAAATA	0.473000														84			19		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33578879	33578879	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578879G>A	uc002xbi.2	+	23	2581	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	713	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGATCTGCCGCCAAGGGTTC	0.647000														154			12		0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135261869	135261869	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135261869G>A	uc003vsw.3	+	4	672	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NUP205_uc011kqa.1_Intron	NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	214					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAAACATCGCAAAGAGGCA	0.373000														110			9		0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127442353	127442353	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127442353C>T	uc001liq.1	+	23	3777	c.3484C>T	c.(3484-3486)Cgg>Tgg	p.R1162W	C10orf137_uc001lip.1_Missense_Mutation_p.R866W|C10orf137_uc001lio.1_Missense_Mutation_p.R1128W|C10orf137_uc001lis.1_Missense_Mutation_p.R488W|C10orf137_uc001lit.1_Missense_Mutation_p.R72W	NM_001202438	NP_001189367	Q3B7T1	EDRF1_HUMAN	Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA.	1162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ATTTGAGTCTCGGTTGTCATT	0.393000														100			18		0	0	1	0	0
CCNY	219771	broad.mit.edu	37	10	35842011	35842011	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35842011T>C	uc001iyw.4	+	7	824	c.644T>C	c.(643-645)aTt>aCt	p.I215T	CCNY_uc001iyu.4_Missense_Mutation_p.I161T|CCNY_uc001iyv.4_Missense_Mutation_p.I161T|CCNY_uc001iyx.4_Missense_Mutation_p.I161T|CCNY_uc009xmb.3_Missense_Mutation_p.I190T|CCNY_uc010qet.2_Missense_Mutation_p.I82T	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	215	Cyclin N-terminal.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGGAAGCGGATTGTTTTAGGG	0.493000														142			35		0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101377772	101377772	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:101377772T>C	uc001dtn.2	+	4	676	c.489T>C	c.(487-489)ggT>ggC	p.G163G	SLC30A7_uc001dto.2_Silent_p.G163G	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	163	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	p.G163C(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		AACATGGAGGTCATGGACATT	0.378000														189			32		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74417568	74417568	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74417568C>T	uc001ovh.3	-	5	799	c.546G>A	c.(544-546)tcG>tcA	p.S182S	CHRDL2_uc001ovg.3_Silent_p.S66S|CHRDL2_uc001ovi.3_Silent_p.S182S|CHRDL2_uc001ovj.1_5'Flank|CHRDL2_uc001ovk.1_Silent_p.S182S	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	182					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCTCTTCATCCGATTGCTCAC	0.602000														130			22		0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749357	22749357	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22749357C>A	uc003gqp.4	+	2	816	c.725C>A	c.(724-726)gCt>gAt	p.A242D	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.A243D	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	242					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GACCAGGAAGCTGCTAAAAGA	0.428000														182			43		4.44401e-20	5.4145e-20	1	1	0
EIF4G3	8672	broad.mit.edu	37	1	21268212	21268212	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21268212C>T	uc001bec.3	-	8	1523	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T	EIF4G3_uc010odi.2_Missense_Mutation_p.A27T|EIF4G3_uc010odj.2_Missense_Mutation_p.A422T|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.A422T|EIF4G3_uc001bee.3_Missense_Mutation_p.A429T|EIF4G3_uc001beg.3_Missense_Mutation_p.A422T|EIF4G3_uc010odk.2_Missense_Mutation_p.A423T|EIF4G3_uc001beh.3_Missense_Mutation_p.A434T	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	423					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ggaggagaagctggaggagtt	0.527000														167			27		0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41414236	41414236	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:41414236C>T	uc001rmm.1	+	19	2630	c.2517C>T	c.(2515-2517)agC>agT	p.S839S	CNTN1_uc001rmn.1_Silent_p.S828S	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	839	Fibronectin type-III 3.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TAGTGGAAAGCTATCAGGTAC	0.313000														31			7		0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43965632	43965632	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43965632G>A	uc010yny.2	+	19	3179	c.3096G>A	c.(3094-3096)caG>caA	p.Q1032Q	PLEKHH2_uc002rtf.3_Silent_p.Q1031Q	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1032	MyTH4.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACGAAGACAGCCACAGAATC	0.363000														91			39		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158900854	158900854	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158900854C>T	uc003qrf.3	+	6	2455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	TULP4_uc011efo.2_Silent_p.Y366Y|TULP4_uc003qrg.3_Silent_p.Y366Y	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	366	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCCCTGTACGTGGTGCGTG	0.617000														150			33		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176738773	176738773	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176738773C>T	uc001gkz.3	+	15	5518	c.4354C>T	c.(4354-4356)Cac>Tac	p.H1452Y	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1452	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.G1451W(1)|p.G1451G(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTCTTCTGGGCACTGGGACCA	0.473000														162			18		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992602	176992602	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176992602G>A	uc001glc.3	-	6	1588	c.1376C>T	c.(1375-1377)gCc>gTc	p.A459V	ASTN1_uc001glb.1_Missense_Mutation_p.A459V|ASTN1_uc001gld.1_Missense_Mutation_p.A459V|ASTN1_uc009wwx.1_Missense_Mutation_p.A459V|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	459	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGGTCCATGGCCCAGGGTCC	0.627000														43			9		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31016139	31016139	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31016139G>A	uc003tbx.3	+	10	1118	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	GHRHR_uc003tby.3_Missense_Mutation_p.R293H|GHRHR_uc003tbz.3_Silent_p.P123P	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	357					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTGGGCATCCGCCTCCCCCTG	0.577000														37			12		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137525404	137525404	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525404C>T	uc003lcl.3	-	14	1572	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	514					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCCAGATAGCGAAAGGCAGT	0.388000														77			16		0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058578	133058578	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:133058578C>T	uc001lkp.3	-	3	886	c.800G>A	c.(799-801)cGc>cAc	p.R267H	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	267										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CAGGAAGTGGCGCGGCTGCAC	0.701000														61			14		0	0	1	0	0
ZNF438	220929	broad.mit.edu	37	10	31138175	31138175	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:31138175G>A	uc010qdz.2	-	6	1594	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	ZNF438_uc001ivn.3_Missense_Mutation_p.R338W|ZNF438_uc010qdy.2_Missense_Mutation_p.R377W|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.R387W|ZNF438_uc001ivp.4_Missense_Mutation_p.R377W|ZNF438_uc010qea.2_Missense_Mutation_p.R387W|ZNF438_uc010qeb.2_Missense_Mutation_p.R387W|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GGTACCTTCCGTTTTCTTCCT	0.388000														133			31		0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50564678	50564678	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50564678G>A	uc003bjj.3	+	11	1878	c.1795G>A	c.(1795-1797)Gaa>Aaa	p.E599K	MOV10L1_uc003bjk.4_Missense_Mutation_p.E599K|MOV10L1_uc011arp.2_Missense_Mutation_p.E579K|MOV10L1_uc011arq.1_Missense_Mutation_p.E360K|MOV10L1_uc010hao.1_Intron	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	599					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding	p.E599K(2)		breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		ACATGCCATCGAATACATCAG	0.383000														71			7		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043043	20043043	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043043C>T	uc002dgu.1	-	2	1238	c.1076_splice	c.e2+1		GPR139_uc010vaw.1_Splice_Site	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.							integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GCAGTAGTTGCCACACCTATG	0.478000														128			32		0	0	1	0	0
MT1M	4499	broad.mit.edu	37	16	56667670	56667670	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:56667670C>A	uc002ejn.3	+	2	212	c.102C>A	c.(100-102)tgC>tgA	p.C34*	MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Non-coding_Transcript|MT1JP_uc002ejo.1_5'Flank|MT1JP_uc002ejp.1_5'Flank	NM_176870	NP_789846	Q8N339	MT1M_HUMAN	Homo sapiens metallothionein 1M (MT1M), mRNA.	34	Alpha.						metal ion binding	p.C34C(4)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5						CAGGCTGCTGCTCCTGCTGCC	0.622000														296			61		2.01871e-26	2.52304e-26	1	1	0
FAM111A	63901	broad.mit.edu	37	11	58920677	58920677	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58920677C>T	uc010rkp.2	+	4	1763	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	FAM111A_uc010rkq.2_Silent_p.V512V|FAM111A_uc010rkr.2_Silent_p.V512V|FAM111A_uc001nno.3_Silent_p.V512V|FAM111A_uc001nnp.3_Silent_p.V512V|FAM111A_uc001nnq.3_Silent_p.V512V	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	512					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CAGAGTATGTCCATATGTATA	0.428000														169			44		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41266622	41266622	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41266622T>A	uc010hia.1	+	4	575	c.419T>A	c.(418-420)aTt>aAt	p.I140N	CTNNB1_uc003ckq.2_Missense_Mutation_p.I140N|CTNNB1_uc003ckp.2_Missense_Mutation_p.I140N|CTNNB1_uc003ckr.2_Missense_Mutation_p.I140N|CTNNB1_uc011azf.1_Missense_Mutation_p.I133N|CTNNB1_uc011azg.1_Missense_Mutation_p.I68N|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	140					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.A5_Q143del(14)|p.W25_I140del(7)|p.M5_N141>D(4)|p.L10_N141del(4)|p.A5_Y142>D(4)|p.A5_Q143>E(2)|p.A13_R151del(2)|p.A20_N141del(2)|p.D11_Y142>H(2)|p.I35_K170del(2)|p.V22_L139>V(2)|p.M1_V173del(2)|p.A20_Q143del(1)|p.S23_I140del(1)|p.A20_R151del(1)|p.Q4_D144del(1)|p.E15_I140>V(1)|p.A5_D144>D(1)|p.L7_I140del(1)|p.K19_Y142>V(1)|p.A20_L148del(1)|p.E9_I140del(1)|p.Q4_Y142del(1)|p.D6_I140del(1)|p.5_142>(1)|p.Q28_I140del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GTAAACTTGATTAACTATCAA	0.438000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					93			27		0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148851044	148851044	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148851044A>C	uc011kum.2	+	2	188	c.47A>C	c.(46-48)gAa>gCa	p.E16A	ZNF398_uc011kul.2_5'UTR|ZNF398_uc003wfl.3_Missense_Mutation_p.E11A	NM_020781	NP_065832	Q8TD17	ZN398_HUMAN	Homo sapiens zinc finger protein 398 (ZNF398), transcript variant 2, mRNA.	11					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			CAGACATCTGAATGGGACTCC	0.498000														159			35		0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349293	226349293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226349293G>A	uc001hpy.3	-	3	714	c.667C>T	c.(667-669)Cga>Tga	p.R223*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	223	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		tcctcccgtcgaagcctttcc	0.453000														97			8		0	0	1	0	0
ARF1	375	broad.mit.edu	37	1	228285130	228285130	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228285130G>A	uc001hrs.3	+	2	379	c.236G>A	c.(235-237)cGc>cAc	p.R79H	ARF1_uc001hrr.3_Missense_Mutation_p.R79H|ARF1_uc001hru.3_Missense_Mutation_p.R79H|ARF1_uc001hrv.3_Missense_Mutation_p.R79H	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	79					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCCCTGTGGCGCCACTACTTC	0.602000														221			21		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724826	50724826	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:50724826G>A	uc021vhh.1	-	12	3445	c.2524C>T	c.(2524-2526)Ctg>Ttg	p.L842L	NRXN1_uc002rxb.4_Silent_p.L514L|NRXN1_uc021vhg.1_Silent_p.L882L|NRXN1_uc021vhi.1_Silent_p.L878L|NRXN1_uc021vhj.1_Silent_p.L838L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	842	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGGAACTCCAGCCTAGTATGA	0.388000														87			16		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5041991	5041991	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:5041991T>C	uc002cye.2	+	5	807	c.627T>C	c.(625-627)cgT>cgC	p.R209R		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	209						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACGGGCCCCGTAGCACCCTGG	0.697000														25			6		0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129206	1129206	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1129206G>A	uc021taf.1	+	1	409	c.338G>A	c.(337-339)cGc>cAc	p.R113H	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.R113H	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	113					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.R113H(2)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCCTGTGCCGCCTGGTCATG	0.652000														145			15		0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540824	55540824	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:55540824A>C	uc003xsd.1	+	3	4530	c.4382A>C	c.(4381-4383)aAc>aCc	p.N1461T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1461					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGTGAAAGAAACATTTCAGAA	0.363000														59			16		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23624966	23624966	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23624966G>A	uc003swk.2	-	0	1181	c.531C>T	c.(529-531)atC>atT	p.I177I						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		TTGTCTTTCGGATCATCCGGG	0.498000														120			22		0	0	1	0	0
GPR108	56927	broad.mit.edu	37	19	6732321	6732321	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6732321G>A	uc002mfp.3	-	11	1124	c.1078C>T	c.(1078-1080)Ctg>Ttg	p.L360L	GPR108_uc010duv.3_5'Flank	NM_001080452	NP_001073921	Q9NPR9	GP108_HUMAN	Homo sapiens G protein-coupled receptor 108 (GPR108), mRNA.	360						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TTATCCGACAGGACGTACTTG	0.617000														181			50		0	0	1	0	0
LIPF	8513	broad.mit.edu	37	10	90429617	90429617	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90429617A>G	uc001kfg.2	+	4	560	c.446A>G	c.(445-447)gAc>gGc	p.D149G	LIPF_uc001kfh.2_Missense_Mutation_p.D126G|LIPF_uc010qmt.2_Missense_Mutation_p.D159G|LIPF_uc010qmu.2_Missense_Mutation_p.D116G	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	149					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		GCTAAATATGACCTTCCAGCC	0.378000														155			35		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226553752	226553752	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226553752A>G	uc001hqd.4	-	18	2578	c.2407_splice	c.e18-1	p.V803_splice		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	803	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCTGTCAACCACCTGGATAAA	0.453000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						75			22		0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995640	2995640	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:2995640G>T	uc010vrb.2	-	0	651	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	217					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						TCAGCACATAGGAAATGATCA	0.468000														132			7		2.0095e-06	2.13635e-06	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140730352	140730352	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140730352C>A	uc003ljo.2	+	0	525	c.525C>A	c.(523-525)ttC>ttA	p.F175L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.F175L	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	178	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAATACTTCTCTCTGTCAA	0.443000														317			32		2.68265e-12	3.09043e-12	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119030980C>T	uc001pvs.3	+	12	1817	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_uc009zar.3_Missense_Mutation_p.T494M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	494	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	p.T494M(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647000														211			39		0	0	1	0	0
ESPNL	339768	broad.mit.edu	37	2	239016582	239016582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239016582C>T	uc002vxq.4	+	3	933	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	ESPNL_uc010fyw.3_Missense_Mutation_p.L15F	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	275										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		TGGGACCCCCCTCCACGACGC	0.642000														69			17		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242165	126242165	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126242165C>T	uc003ifj.4	+	0	4599	c.4599C>T	c.(4597-4599)aaC>aaT	p.N1533N		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1533	Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCACAAAACGCCCTTGCTG	0.433000														249			50		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47906046	47906046	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47906046A>G	uc003tny.2	-	24	4097	c.4063T>C	c.(4063-4065)Tca>Cca	p.S1355P		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1355	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGCATACTGAAGAAATTAAT	0.458000														139			32		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935229	30935229	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935229C>T	uc002nsu.1	+	1	898	c.760C>T	c.(760-762)Ccg>Tcg	p.P254S	ZNF536_uc010edd.1_Missense_Mutation_p.P254S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P254P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGTGGCCCACCCGGTGCCCTC	0.736000														63			14		0	0	1	0	0
CNOT4	4850	broad.mit.edu	37	7	135080489	135080489	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:135080489G>A	uc003vsv.2	-	8	1357	c.1026C>T	c.(1024-1026)cgC>cgT	p.R342R	CNOT4_uc011kpy.2_Silent_p.R342R|CNOT4_uc011kpz.2_Silent_p.R339R|CNOT4_uc003vst.3_Silent_p.R342R|CNOT4_uc003vss.3_Silent_p.R339R|CNOT4_uc003vsu.2_Silent_p.R339R	NM_001190848	NP_001177777	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 4, mRNA.	342					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGGATGGCGAAAATTGT	0.527000														126			27		0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592066	125592066	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:125592066G>A	uc010inw.3	-	3	3404	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	ANKRD50_uc011cgo.2_Missense_Mutation_p.A610V	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	789										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACCCATAGACGCTGCTGCTAA	0.458000														135			31		0	0	1	0	0
TLR9	54106	broad.mit.edu	37	3	52266028	52266028	+	Missense_Mutation	SNP	G	A	A	rs35114109		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52266028G>A	uc003ddd.3	-	2	365	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	TLR9_uc003ddb.3_5'Flank|TLR9_uc003ddc.1_5'Flank	NM_007284	NP_009215	Q9NR96	TLR9_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 2 (Drosophila) (TWF2), mRNA.	0					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGTCGAGGCGGTAGAGCAGG	0.647000											OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		138			32		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150094613	150094613	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150094613G>T	uc003whf.1	+	2	1169	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTTCCGCCAGAAGCAGCACC	0.741000														16			6		3.59834e-05	3.75534e-05	1	1	0
NOD1	10392	broad.mit.edu	37	7	30496420	30496420	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30496420G>T	uc003tav.3	-	3	641	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	NOD1_uc010kvs.2_Missense_Mutation_p.L40M|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	40	CARD.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TTGTCCACCAGACACTGAGTA	0.527000														145			52		1.19451e-25	1.4896e-25	1	1	0
GSG1L	146395	broad.mit.edu	37	16	27818817	27818817	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27818817A>T	uc002doz.2	-	5	974	c.889T>A	c.(889-891)Tac>Aac	p.Y297N	GSG1L_uc010bya.1_Missense_Mutation_p.Y246N|GSG1L_uc010bxz.1_Missense_Mutation_p.Y160N|GSG1L_uc002doy.2_Missense_Mutation_p.Y142N	NM_001109763	NP_653276	Q6UXU4	GSG1L_HUMAN	Homo sapiens GSG1-like (GSG1L), transcript variant 1, mRNA.	297						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CGGGCAGGGTATCTCTCGTGG	0.512000														44			9		0	0	1	0	0
SEC24B	10427	broad.mit.edu	37	4	110452568	110452568	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110452568C>T	uc003hzk.3	+	19	3335	c.3280C>T	c.(3280-3282)Cgg>Tgg	p.R1094W	SEC24B_uc003hzl.3_Missense_Mutation_p.R1059W|SEC24B_uc011cfp.2_Missense_Mutation_p.R1124W|SEC24B_uc011cfq.2_Missense_Mutation_p.R1093W|SEC24B_uc011cfr.2_Missense_Mutation_p.R1058W	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	1094					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TACAAGCACACGGCTGGATGA	0.343000														74			24		0	0	1	0	0
SMCR7	125170	broad.mit.edu	37	17	18166031	18166031	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18166031G>T	uc010vxq.2	+	1	56	c.30G>T	c.(28-30)caG>caT	p.Q10H	SMCR7_uc002gsu.3_5'UTR|SMCR7_uc002gst.3_5'UTR	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	0						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTTACAGGCAGACCATGGCAG	0.642000														65			23		5.26018e-13	6.10868e-13	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27059196	27059196	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27059196G>T	uc001bmv.1	+	3	2206	c.1833G>T	c.(1831-1833)caG>caT	p.Q611H	ARID1A_uc001bmt.1_Missense_Mutation_p.Q611H|ARID1A_uc001bmu.1_Missense_Mutation_p.Q611H|ARID1A_uc001bmw.1_Missense_Mutation_p.Q228H	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	611					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTGGGTCTCAGGCATCCTCAG	0.473000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""									108			15		2.23348e-06	2.37297e-06	1	1	0
RBM42	79171	broad.mit.edu	37	19	36128403	36128403	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36128403C>A	uc002oan.3	+	9	1466	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_uc002oap.3_Missense_Mutation_p.L434M|RBM42_uc002oaq.3_Missense_Mutation_p.L435M	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	Homo sapiens RNA binding motif protein 42 (RBM42), mRNA.	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617000														119			24		3.83957e-06	4.06525e-06	1	1	0
RLN2	6019	broad.mit.edu	37	9	5300153	5300153	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5300153G>A	uc003zja.1	-	1	503	c.503C>T	c.(502-504)gCt>gTt	p.A168V	RLN2_uc003ziz.1_3'UTR	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	168					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		ACATTTATTAGCCAATGCACT	0.373000														73			18		0	0	1	0	0
PPP4C	5531	broad.mit.edu	37	16	30094745	30094745	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30094745C>A	uc002dwe.3	+	5	469	c.334C>A	c.(334-336)Cgg>Agg	p.R112R	BOLA2_uc010bzb.1_Intron|PPP4C_uc002dwf.3_Silent_p.R112R	NM_002720	NP_002711	P60510	PP4C_HUMAN	Homo sapiens protein phosphatase 4, catalytic subunit (PPP4C), mRNA.	112					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	NF-kappaB-inducing kinase activity|metal ion binding|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						CACACTGATCCGGGGCAACCA	0.607000														205			34		2.47316e-13	2.8801e-13	1	1	0
GREB1	9687	broad.mit.edu	37	2	11756779	11756779	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11756779C>T	uc002rbk.1	+	20	3645	c.3345C>T	c.(3343-3345)agC>agT	p.S1115S	GREB1_uc002rbp.1_Silent_p.S113S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1115	Ser-rich.					integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		AGAAGAGAAGCCCCATGAAAA	0.547000														360			50		0	0	1	0	0
VWC2	375567	broad.mit.edu	37	7	49842318	49842318	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:49842318C>T	uc003tot.1	+	2	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	236	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507000														223			35		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111749924	111749924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111749924C>T	uc001tsa.2	+	15	2075	c.1921C>T	c.(1921-1923)Cgc>Tgc	p.R641C		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	641						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCCGAGAATCCGCACGCCTGA	0.617000														60			5		0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34004315	34004315	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34004315G>A	uc003oir.4	-	7	1935	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	GRM4_uc011dsn.2_Silent_p.C477C|GRM4_uc010jvh.3_Silent_p.C524C|GRM4_uc010jvi.3_Silent_p.C216C|GRM4_uc003oio.3_Silent_p.C216C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.C384C|GRM4_uc003oiq.3_Silent_p.C391C|GRM4_uc011dsm.2_Silent_p.C355C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	524					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CACCCGGTTGGCAGGGCAGGC	0.627000														153			32		0	0	1	0	0
IGFBP5	3488	broad.mit.edu	37	2	217559274	217559274	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:217559274G>T	uc002vgj.4	-	0	999	c.225C>A	c.(223-225)gcC>gcA	p.A75A		NM_000599	NP_000590	P24593	IBP5_HUMAN	Homo sapiens insulin-like growth factor binding protein 5 (IGFBP5), mRNA.	75	IGFBP N-terminal.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCCCCTGGGCGCAGCGCT	0.726000														18			3		0.004672	0.00474578	1	1	0
CNTRL	11064	broad.mit.edu	37	9	123852648	123852648	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:123852648C>A	uc004bkx.1	+	1	344	c.313C>A	c.(313-315)Ctt>Att	p.L105I	CNTRL_uc004bkw.2_Missense_Mutation_p.L105I	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	105					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ATCTCTGAACCTTTCACTTTC	0.348000														72			9		2.17888e-05	2.28139e-05	1	1	0
ZAN	7455	broad.mit.edu	37	7	100369522	100369522	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100369522C>T	uc003uwj.3	+	28	5469	c.5304C>T	c.(5302-5304)tgC>tgT	p.C1768C	ZAN_uc003uwk.3_Silent_p.C1768C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.C345C|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1768					binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGCCAGTTGCGTGCATGGTC	0.657000														91			24		0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174940564	174940564	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:174940564C>T	uc003mda.2	+	6	833	c.695C>T	c.(694-696)tCc>tTc	p.S232F	SFXN1_uc003mdb.1_Missense_Mutation_p.S171F	NM_022754	NP_073591	Q9H9B4	SFXN1_HUMAN	Homo sapiens sideroflexin 1 (SFXN1), mRNA.	232					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding	p.S232S(1)		endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTTGTCGTGTCCAGGATTCTC	0.522000														114			21		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98568340	98568340	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98568340C>A	uc003dte.3	-	2	899	c.536G>T	c.(535-537)gGa>gTa	p.G179V	DCBLD2_uc003dtd.3_Missense_Mutation_p.G179V|DCBLD2_uc003dtf.1_Non-coding_Transcript	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	179	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.R178L(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GGCCAAAAATCCGCGTCCAGA	0.353000														81			15		0.00244969	0.00249783	1	1	0
MED26	9441	broad.mit.edu	37	19	16688235	16688235	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16688235G>A	uc002nen.1	-	2	667	c.406C>T	c.(406-408)Ctg>Ttg	p.L136L	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	136					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGCCCGGGCAGCCTCTGGAGG	0.711000														83			20		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897796	153897796	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897796C>A	uc003inf.2	+	10	3428	c.3353C>A	c.(3352-3354)gCt>gAt	p.A1118D		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1118					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAGAGGGGCTGGGGAAAGG	0.657000														40			19		5.3912e-06	5.69533e-06	1	1	0
RNF32	140545	broad.mit.edu	37	7	156468427	156468427	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156468427A>C	uc003wmo.3	+	7	952	c.722A>C	c.(721-723)aAc>aCc	p.N241T	RNF32_uc010lqm.3_Missense_Mutation_p.N241T|RNF32_uc003wmq.3_Missense_Mutation_p.N241T|RNF32_uc003wmr.3_Missense_Mutation_p.N241T|RNF32_uc003wmu.3_Non-coding_Transcript	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	241						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGCTCATACAACACCAACATT	0.517000														160			34		0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519407	53519407	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:53519407C>A	uc003pcb.4	-	1	805	c.664G>T	c.(664-666)Gat>Tat	p.D222Y		NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	222	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					AAGTCATCATCTATAAGAAGT	0.348000														101			22		7.41877e-09	8.17068e-09	1	1	0
C18orf62	284274	broad.mit.edu	37	18	73122827	73122827	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:73122827C>T	uc002lma.1	-	2	369	c.298G>A	c.(298-300)Gca>Aca	p.A100T	C18orf62_uc010dqw.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	100						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		ATTTATTCTGCTTCTGCTGTG	0.363000														62			14		0	0	1	0	0
C12orf29	91298	broad.mit.edu	37	12	88437384	88437384	+	Missense_Mutation	SNP	T	C	C	rs74511812		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:88437384T>C	uc001tao.3	+	3	471	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	C12orf29_uc001tap.3_Non-coding_Transcript|C12orf29_uc009zsk.3_Non-coding_Transcript	NM_001009894	NP_001009894	Q8N999	CL029_HUMAN	Homo sapiens chromosome 12 open reading frame 29 (C12orf29), mRNA.	105										large_intestine(3)|lung(1)|ovary(1)	5						agaatttttttGGAACGTTGA	0.358000														33			8		0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31021562	31021562	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31021562G>A	uc021wbw.1	+	11	1993	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	ASXL1_uc002wxs.3_Missense_Mutation_p.D520N|ASXL1_uc010geb.3_Missense_Mutation_p.D412N	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	521					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAACCCAAGGATCAGAAGAG	0.522000			"""F, N, Mis"""		"""MDS, CMML"""									345			79		0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25655516	25655516	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:25655516C>T	uc009vro.3	+	8	1429	c.1371C>T	c.(1369-1371)gtC>gtT	p.V457V	C1orf63_uc021ojj.1_Intron|RHD_uc001bjz.3_3'UTR|RHD_uc001bkc.3_3'UTR|RHD_uc009vrm.3_3'UTR|RHD_uc001bka.3_Silent_p.V427V|RHD_uc001bkb.3_3'UTR|RHD_uc009vrn.3_3'UTR|RHD_uc009vrp.3_3'UTR			Q02161	RHD_HUMAN	Homo sapiens Rh blood group, D antigen (RHD), transcript variant 1, mRNA.	0						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACAGCAAAGTCTCCAATGTTC	0.438000														51			19		0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1235045	1235045	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1235045G>A	uc002lrm.2	-	4	667	c.392C>T	c.(391-393)gCg>gTg	p.A131V		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	131						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAACAGCGCCGCCTCATTGAA	0.697000										HNSCC(14;0.022)				75			11		0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153247784	153247784	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153247784G>A	uc022cic.1	+	0	271	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	TMEM187_uc004fjq.2_Missense_Mutation_p.A91T|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	91						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGTTCGCAGCCATGGCCCT	0.682000														65			21		0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129318474	129318474	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129318474G>T	uc004evl.3	+	1	738	c.474G>T	c.(472-474)caG>caT	p.Q158H	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	158					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAGGGAACAGATCCAGGTGC	0.522000														104			21		2.32416e-17	2.78873e-17	1	1	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									149			18		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189975161	189975161	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189975161C>A	uc002uqk.3	-	1	387	c.112G>T	c.(112-114)Gaa>Taa	p.E38*		NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	38					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAGGCTATTTCTTCACCATAT	0.383000														89			22		1.9806e-07	2.14016e-07	1	1	0
PTAR1	375743	broad.mit.edu	37	9	72347116	72347116	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72347116T>A	uc004ahj.4	-	4	603	c.581A>T	c.(580-582)aAc>aTc	p.N194I	PTAR1_uc004ahi.3_Missense_Mutation_p.N115I	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	Homo sapiens protein prenyltransferase alpha subunit repeat containing 1 (PTAR1), mRNA.	194					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						AGCATTATAGTTGCTTGGGTA	0.493000														40			18		0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100615114	100615114	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100615114G>A	uc010nno.2	-	8	1136	c.903C>T	c.(901-903)aaC>aaT	p.N301N	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Silent_p.N267N|BTK_uc010nnn.2_Silent_p.N267N|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Silent_p.N267N	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	267	SH2.				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						CAGTGACATAGTTACTAGGAA	0.448000									Agammaglobulinemia, X-linked					117			36		0	0	1	0	0
IL6	3569	broad.mit.edu	37	7	22767180	22767180	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22767180C>A	uc003svj.4	+	1	253	c.137C>A	c.(136-138)cCa>cAa	p.P46Q	LOC541472_uc010kun.2_Intron|IL6_uc011jyo.1_Missense_Mutation_p.P46Q|IL6_uc011jyp.1_Intron|IL6_uc011jyq.1_Missense_Mutation_p.P100Q	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	46					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	CACAGACAGCCACTCACCTCT	0.572000														152			36		5.43694e-19	6.59212e-19	1	1	0
PTBP2	58155	broad.mit.edu	37	1	97217025	97217025	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:97217025G>A	uc001drq.3	+	2	330	c.84G>A	c.(82-84)ccG>ccA	p.P28P	PTBP2_uc001drn.2_Silent_p.P28P|PTBP2_uc001dro.2_Silent_p.P28P|PTBP2_uc010otz.1_Silent_p.P39P|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Intron|PTBP2_uc001drr.3_Silent_p.P28P|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drm.2_Silent_p.P28P	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	28							nucleotide binding	p.P28Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCAGTAGTCCGAACTCTAATA	0.348000														160			37		0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73995295	73995295	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:73995295T>G	uc002avv.1	+	3	835	c.601T>G	c.(601-603)Ttg>Gtg	p.L201V	CD276_uc010bjd.1_Missense_Mutation_p.L55V|CD276_uc002avu.1_Missense_Mutation_p.L201V|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Missense_Mutation_p.L147V	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	201	Ig-like C2-type 1.				T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CGAGCAGGGCTTGTTTGATGT	0.632000														103			16		0	0	1	0	0
ADAT1	23536	broad.mit.edu	37	16	75642133	75642133	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75642133G>A	uc002feo.2	-	8	1447	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	ADAT1_uc002fep.2_Silent_p.S277S	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	426	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						TTGCCTGAAGGCTTCCAATTG	0.443000														293			77		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26091072	26091072	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26091072G>A	uc002gzu.3	-	20	2791	c.2527C>T	c.(2527-2529)Ctc>Ttc	p.L843F		NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	843	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	AGCTTTTGGAGCAGCAGCTGG	0.627000														57			9		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21788264	21788264	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21788264T>G	uc001wag.3	+	10	1395	c.1395T>G	c.(1393-1395)atT>atG	p.I465M	RPGRIP1_uc001wah.3_Missense_Mutation_p.I107M|RPGRIP1_uc001wai.3_Missense_Mutation_p.I107M|RPGRIP1_uc001waj.1_5'Flank|RPGRIP1_uc001wak.3_5'Flank|RPGRIP1_uc010aim.3_5'Flank|RPGRIP1_uc001wal.3_5'Flank	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	465					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CAGCCACAATTTCCCAACCTC	0.458000														56			7		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49320695	49320695	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49320695C>T	uc001zxe.2	-	4	1113	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SECISBP2L_uc001zxd.2_Silent_p.Q283Q|SECISBP2L_uc010bep.2_Silent_p.Q45Q|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	283										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGCTGCAGGCTGGTTGTTGC	0.448000														139			34		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33578604	33578604	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33578604G>A	uc002xbi.2	+	22	2484	c.2167G>A	c.(2167-2169)Gtc>Atc	p.V723I	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	681	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCGCTGCATTGTCCCCAACGA	0.627000														165			9		0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132561978	132561978	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132561978G>A	uc001ujn.3	+	52	9284	c.9132G>A	c.(9130-9132)gcG>gcA	p.A3044A	EP400_uc021rgq.1_Silent_p.A3043A|EP400_uc001ujm.3_Silent_p.A2963A|EP400_uc001ujp.3_Silent_p.A254A|EP400_uc010tbo.2_Missense_Mutation_p.D111N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3080					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCACGCAGGCGACGGCGGCCG	0.602000														222			10		0	0	1	0	0
TFCP2L1	29842	broad.mit.edu	37	2	122005784	122005784	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122005784C>T	uc002tmx.3	-	4	553	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TFCP2L1_uc010flr.3_Missense_Mutation_p.E154K	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	154					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CACAAAAACTCGACTGCATTC	0.547000														58			5		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50191584	50191584	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50191584C>T	uc011arg.2	-	5	2128	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	BRD1_uc011arf.2_Missense_Mutation_p.R251H|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.R656H|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.R656H	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	656					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)		TCCCTGATCGCGCAGCCTCAC	0.577000														133			31		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23465529	23465529	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:23465529G>A	uc002zwu.1	+	2	1516	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	327						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CTTCACCTGCGCCACCGACAC	0.542000														79			21		0	0	1	0	0
CCNO	10309	broad.mit.edu	37	5	54527253	54527253	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54527253G>T	uc003jpw.3	-	2	1160	c.1003C>A	c.(1003-1005)Ctg>Atg	p.L335M	CCNO_uc003jpv.3_Non-coding_Transcript	NM_021147	NP_066970	P22674	CCNO_HUMAN	Homo sapiens cyclin O (CCNO), mRNA.	335					cell cycle|cell division|depyrimidination|regulation of cyclin-dependent protein kinase activity	nucleoplasm	protein kinase binding|uracil DNA N-glycosylase activity			endometrium(1)|lung(3)|skin(1)	5		Lung NSC(810;4.08e-05)|Breast(144;0.0735)|Prostate(74;0.183)	LUSC - Lung squamous cell carcinoma(15;0.142)|Lung(15;0.161)			TGAACGGGCAGCATGTGAGTC	0.582000														146			30		2.12542e-12	2.45163e-12	1	1	0
PRKD2	25865	broad.mit.edu	37	19	47207843	47207843	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47207843C>T	uc002pfh.3	-	4	917	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PRKD2_uc002pfg.3_Missense_Mutation_p.R35H|PRKD2_uc002pfi.3_Missense_Mutation_p.R192H|PRKD2_uc002pfj.3_Missense_Mutation_p.R192H|PRKD2_uc010xye.2_Missense_Mutation_p.R192H|PRKD2_uc002pfk.3_Missense_Mutation_p.R35H	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	192					T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCGCCGTTTGCGGGCCCCACT	0.647000											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		118			28		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36106154	36106154	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36106154G>T	uc002oam.1	+	5	402	c.351G>T	c.(349-351)caG>caT	p.Q117H		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	117					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGGCACGTCAGCACACTCAAG	0.647000														72			15		3.52763e-06	3.73571e-06	1	1	0
CRYBG3	131544	broad.mit.edu	37	3	97596325	97596325	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97596325A>C	uc003drx.3	+	0	507	c.443A>C	c.(442-444)gAg>gCg	p.E148A	CRYBG3_uc021xbn.1_Missense_Mutation_p.E148A					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AGCTCACAGGAGGACATTCTA	0.428000														124			29		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233346501	233346501	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233346501C>T	uc002vsv.2	-	12	2060	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ECEL1_uc010fya.1_Missense_Mutation_p.D617N|ECEL1_uc010fyb.1_Missense_Mutation_p.D326N	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	619					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CCCCAGTCGTCGTAGCCGTGG	0.667000														187			48		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752235	17752235	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17752235C>T	uc021uqk.1	-	20	2642	c.2600G>A	c.(2599-2601)cGc>cAc	p.R867H		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	868					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GACGCCGTAGCGCATGGCAAA	0.572000														108			24		0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112597	145112597	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145112597C>T	uc003zar.3	-	9	1258	c.1176G>A	c.(1174-1176)acG>acA	p.T392T	OPLAH_uc003zas.1_5'Flank|OPLAH_uc003zat.1_Missense_Mutation_p.G218R	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	392							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GATTAGCATCCGTCACTGTCA	0.647000														74			9		0	0	1	0	0
ZBTB38	253461	broad.mit.edu	37	3	141163405	141163405	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141163405G>A	uc010hup.3	+	1	2225	c.2178G>A	c.(2176-2178)tcG>tcA	p.S726S	ZBTB38_uc003etw.3_Silent_p.S725S|ZBTB38_uc010hun.3_Silent_p.S722S|ZBTB38_uc010huo.3_Silent_p.S725S|ZBTB38_uc003ety.3_Silent_p.S725S|ZBTB38_uc021xes.1_Silent_p.S725S	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	725					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGTTTTCATCGGTGATCATGC	0.502000														143			38		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6681195	6681195	+	Missense_Mutation	SNP	C	T	T	rs67407819		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6681195C>T	uc022aqv.1	-	3	636	c.485G>A	c.(484-486)cGc>cAc	p.R162H	XKR5_uc003wqq.3_5'UTR	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	162						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		GCCCATGAAGCGAGTGTAGGA	0.592000														17			3		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735821	126735821	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126735821C>A	uc003ejg.3	+	15	3217	c.3217C>A	c.(3217-3219)Ctg>Atg	p.L1073M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1073	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGCACCAACCTGGCCACTGT	0.642000														113			23		5.45024e-15	6.43213e-15	1	1	0
INSC	387755	broad.mit.edu	37	11	15212360	15212360	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:15212360G>T	uc001mlz.3	+	6	804	c.693_splice	c.e6+1	p.K231_splice	INSC_uc001mly.3_Splice_Site_p.K278_splice|INSC_uc001mma.3_Splice_Site_p.K231_splice|INSC_uc010rcs.2_Splice_Site_p.K266_splice|INSC_uc001mmb.3_Splice_Site_p.K231_splice|INSC_uc001mmc.3_Splice_Site_p.K231_splice	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	278					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCATAGCCAAGGTGAGCTTCA	0.537000														153			33		8.88839e-20	1.08155e-19	1	1	0
ZBTB45	84878	broad.mit.edu	37	19	59028114	59028114	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59028114C>A	uc002qtd.3	-	1	1219	c.927G>T	c.(925-927)caG>caT	p.Q309H	ZBTB45_uc002qtf.3_Missense_Mutation_p.Q309H	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	309	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCAGTCGGGCTGGACAGGGG	0.637000														107			25		1.64293e-13	1.91604e-13	1	1	0
RUVBL2	10856	broad.mit.edu	37	19	49507607	49507607	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49507607G>T	uc002plr.1	+	3	210	c.197G>T	c.(196-198)gGg>gTg	p.G66V	RUVBL2_uc010yab.2_Missense_Mutation_p.G66V|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.G21V	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	66					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		ATCCGGGAAGGGAAGATTGCC	0.662000														218			45		3.54909e-21	4.35023e-21	1	1	0
UBXN6	80700	broad.mit.edu	37	19	4457633	4457633	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4457633T>C	uc002man.2	-	0	159	c.62A>G	c.(61-63)cAg>cGg	p.Q21R		NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	21						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGAGCTTCTGACCGGGTCC	0.692000														53			5		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105172912	105172912	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105172912G>T	uc001kwy.1	+	8	1105	c.1018G>T	c.(1018-1020)Gtt>Ttt	p.V340F		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	340	S1 motif 3.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TCGAACCAGAGTTGTGCACCT	0.592000														163			19		8.34094e-07	8.90579e-07	1	1	0
PARP2	10038	broad.mit.edu	37	14	20825861	20825861	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20825861A>G	uc001vxc.3	+	15	1685	c.1657A>G	c.(1657-1659)Acc>Gcc	p.T553A	PARP2_uc001vxb.1_3'UTR|PARP2_uc001vxd.3_Missense_Mutation_p.T540A	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	553	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		AGATGGTTATACCCTCAACTA	0.408000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						119			28		0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69199419	69199419	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69199419A>C	uc002ews.4	+	14	1919	c.1823A>C	c.(1822-1824)gAc>gCc	p.D608A	CIRH1A_uc002ewr.2_Missense_Mutation_p.D608A|CIRH1A_uc002ewt.4_Missense_Mutation_p.D525A|CIRH1A_uc010cfi.3_Missense_Mutation_p.D410A	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	608						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TGCATCATTGACAAGTCATTG	0.423000														56			11		0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35630181	35630181	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:35630181G>A	uc021rid.1	+	6	1541	c.1007G>A	c.(1006-1008)cGa>cAa	p.R336Q	NBEA_uc021ric.1_Missense_Mutation_p.R336Q	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	336						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)		ATTTACAATCGATGGAGGAAC	0.308000														61			16		0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140635	39140635	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:39140635G>T	uc004abi.3	-	12	1996	c.1757_splice	c.e12-1	p.S586_splice	CNTNAP3_uc004abj.3_Splice_Site_p.S586_splice|CNTNAP3_uc011lqr.2_Splice_Site|CNTNAP3_uc004abk.1_Splice_Site_p.S586_splice|CNTNAP3_uc011lqs.1_Splice_Site_p.A493_splice	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	586	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTCGTAGAGAGCTGTAGGAGA	0.463000														60			21		2.89027e-11	3.28353e-11	1	1	0
POC1A	25886	broad.mit.edu	37	3	52185074	52185074	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52185074C>A	uc003dcu.3	-	1	379	c.61G>T	c.(61-63)Gca>Tca	p.A21S	POC1A_uc003dcv.3_5'UTR|POC1A_uc003dcw.3_Missense_Mutation_p.A21S	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	21						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						CAGGTAACTGCATCTCGGTGG	0.532000														207			37		4.17593e-13	4.85447e-13	1	1	0
RNF213	57674	broad.mit.edu	37	17	78346393	78346393	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78346393T>G	uc002jyh.2	+	48	12900	c.12757T>G	c.(12757-12759)Ttc>Gtc	p.F4253V	RNF213_uc021uen.1_Missense_Mutation_p.F4204V|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	238										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAAGGTCGTTTCCTTAAGGC	0.517000														63			9		0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17448962	17448962	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17448962G>T	uc002ngg.4	+	1	294	c.199G>T	c.(199-201)Gca>Tca	p.A67S	GTPBP3_uc010xpo.2_Missense_Mutation_p.A89S|GTPBP3_uc010eaq.1_Non-coding_Transcript|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.A67S|GTPBP3_uc002ngh.4_Missense_Mutation_p.A67S	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	67					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AATTCTCACAGCACCCCGAGA	0.711000														51			10		4.68919e-08	5.11014e-08	1	1	0
ZBTB20	26137	broad.mit.edu	37	3	114070337	114070337	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070337G>A	uc003ebi.3	-	3	768	c.588C>T	c.(586-588)aaC>aaT	p.N196N	ZBTB20_uc003ebj.3_Silent_p.N123N|ZBTB20_uc010hqp.3_Silent_p.N123N|ZBTB20_uc003ebk.3_Silent_p.N123N|ZBTB20_uc003ebl.3_Silent_p.N123N|ZBTB20_uc003ebm.3_Silent_p.N123N|ZBTB20_uc003ebn.3_Silent_p.N123N|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATCGCCCACGTTCTGTGACA	0.647000														203			31		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25364262	25364262	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25364262G>A	uc003xep.1	+	14	2557	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Missense_Mutation_p.A679T|CDCA2_uc003xer.1_Missense_Mutation_p.A357T	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	694					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TATTCCAAAAGCAAAAAATAA	0.338000														59			14		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116411905	116411905	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:116411905C>A	uc003vij.3	+	13	3077	c.2890C>A	c.(2890-2892)Ctg>Atg	p.L964M	MET_uc010lkh.3_Missense_Mutation_p.L982M|MET_uc011knj.2_Missense_Mutation_p.L534M	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	964					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.L982_D1028del(3)|p.D981_D1028del(1)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTTAAGATCTGGGCAGTGA	0.458000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					66			13		0.000151284	0.000156809	1	1	0
HCRTR1	3061	broad.mit.edu	37	1	32084938	32084938	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32084938C>A	uc009vtx.2	+	2	530	c.145C>A	c.(145-147)Ctc>Atc	p.L49I	HCRTR1_uc001btc.4_Silent_p.S22S|HCRTR1_uc001btd.2_Missense_Mutation_p.L49I|HCRTR1_uc010ogl.2_Missense_Mutation_p.L49I	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	49					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TGAGTGGGTCCTCATCGCAGC	0.597000														329			28		1.30897e-18	1.58338e-18	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167085266	167085266	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167085266G>A	uc010fpl.3	-	21	4449	c.4108C>T	c.(4108-4110)Cga>Tga	p.R1370*	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1381						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTTCCATCGCACATTTTGA	0.398000														218			44		0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792476	143792476	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143792476C>A	uc011kty.2	+	0	276	c.276C>A	c.(274-276)tcC>tcA	p.S92S		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGTCATCTCCTTTGCTCCTT	0.428000														115			25		4.26978e-12	4.90093e-12	1	1	0
GPR124	25960	broad.mit.edu	37	8	37691268	37691268	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37691268G>A	uc003xkj.3	+	9	1745	c.1359G>A	c.(1357-1359)gaG>gaA	p.E453E	GPR124_uc010lvy.3_Silent_p.E453E	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	453					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACACAGCCGAGGCCGCTAGCT	0.527000														154			47		0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66914273	66914273	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66914273T>C	uc002jhq.3	-	15	2302	c.1962A>G	c.(1960-1962)caA>caG	p.Q654Q	ABCA8_uc002jhp.3_Silent_p.Q614Q|ABCA8_uc010wqq.2_Silent_p.Q654Q|ABCA8_uc010wqr.2_Silent_p.Q593Q|ABCA8_uc002jhr.3_Silent_p.Q654Q	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	614	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTTCCATACTTGGTGTCTTG	0.458000														98			18		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47697518	47697518	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47697518G>A	uc002zir.1	-	4	1817	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	594					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GCCTATCAGGGTACTGAGGGA	0.572000														209			16		0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37520372	37520372	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37520372G>T	uc002rqd.3	-	1	886	c.331C>A	c.(331-333)Ctc>Atc	p.L111I	PRKD3_uc002rqf.1_Missense_Mutation_p.L111I	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	111					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGCGAAAGAGAAGAATTTTG	0.373000														105			14		7.93312e-07	8.47869e-07	1	1	0
FAM91A1	157769	broad.mit.edu	37	8	124792281	124792281	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124792281A>C	uc003yqv.3	+	6	667	c.606A>C	c.(604-606)caA>caC	p.Q202H	FAM91A1_uc011lik.1_Missense_Mutation_p.Q202H|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	202										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAGGCCCTCAACTCTCTGGAT	0.318000														60			14		0	0	1	0	0
RSPO3	84870	broad.mit.edu	37	6	127476492	127476492	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127476492G>T	uc003qas.1	+	3	833	c.543G>T	c.(541-543)caG>caT	p.Q181H	RSPO3_uc003qar.3_Missense_Mutation_p.Q181H	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	181	TSP type-1.					extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		AAATAATACAGCATCCTTCAG	0.463000														97			12		7.03913e-09	7.75971e-09	1	1	0
TOX2	84969	broad.mit.edu	37	20	42683164	42683164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42683164C>T	uc010ggo.3	+	4	917	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	TOX2_uc002xle.4_Nonsense_Mutation_p.Q251*|TOX2_uc010ggp.3_Nonsense_Mutation_p.Q251*|TOX2_uc002xlf.4_Nonsense_Mutation_p.Q302*|TOX2_uc010zwk.2_Nonsense_Mutation_p.Q171*	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGAACAGAAGCAGGTGAGCCT	0.582000														39			14		0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16461042	16461042	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16461042A>G	uc001aya.2	-	7	1758	c.1603T>C	c.(1603-1605)Ttg>Ctg	p.L535L		NM_004431	NP_004422	P29317	EPHA2_HUMAN	Homo sapiens EPH receptor A2 (EPHA2), mRNA.	535					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	ATCACCGCCAAGTTGCCAGAT	0.592000														53			6		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21098312	21098312	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:21098312T>G	uc010vbe.2	-	18	2735	c.2735A>C	c.(2734-2736)aAa>aCa	p.K912T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	912	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTGATCAGTTTATACGTTGT	0.463000														255			47		0	0	1	0	0
AKR7A2	8574	broad.mit.edu	37	1	19633502	19633502	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19633502C>A	uc001bbw.3	-	4	804	c.782G>T	c.(781-783)aGg>aTg	p.R261M		NM_003689	NP_003680	O43488	ARK72_HUMAN	Homo sapiens aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase) (AKR7A2), mRNA.	261					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCGATTCCTGTAGGTCTC	0.582000														235			23		6.44725e-10	7.21145e-10	1	1	0
OR2D2	120776	broad.mit.edu	37	11	6913006	6913006	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6913006G>A	uc010rau.2	-	0	726	c.726C>T	c.(724-726)ggC>ggT	p.G242G		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G242C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGAGGTGGGAGCCACAGGTAG	0.428000														62			19		0	0	1	0	0
JKAMP	51528	broad.mit.edu	37	14	59970602	59970602	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59970602A>C	uc001xei.4	+	6	1292	c.790A>C	c.(790-792)Aga>Cga	p.R264R	JKAMP_uc001xef.4_Silent_p.R250R|JKAMP_uc001xeh.4_Silent_p.R244R|JKAMP_uc001xeg.4_Silent_p.R258R|JKAMP_uc010try.2_Silent_p.R187R|JKAMP_uc001xej.4_Silent_p.R187R	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	265					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						CAGAAAGAAAAGACTTATTGT	0.353000														90			16		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188332545	188332545	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188332545C>T	uc002upy.3	-	6	1038	c.743G>A	c.(742-744)aGt>aAt	p.S248N		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	248	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CCCACATCCACTGTACTTAAA	0.408000														114			27		0	0	1	0	0
IRF1	3659	broad.mit.edu	37	5	131820175	131820175	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131820175C>T	uc003kxa.2	-	8	966	c.732G>A	c.(730-732)tcG>tcA	p.S244S	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Silent_p.S244S	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	244					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCTGCCACTCCGACTGCTCCA	0.567000														187			35		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27147792	27147792	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27147792T>C	uc011jzl.2	-	2	1274	c.1074A>G	c.(1072-1074)ccA>ccG	p.P358P	HOXA3_uc003syk.3_Silent_p.P358P	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	358					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCTGTATGTGTGGGGTCCCAT	0.672000														57			14		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65408725	65408725	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408725T>C	uc001ofb.2	+	1	500	c.333T>C	c.(331-333)ctT>ctC	p.L111L	SIPA1_uc010rom.1_Silent_p.L111L|SIPA1_uc001ofd.2_Silent_p.L111L	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	111					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CACCAGTGCTTGAGCCTCGAT	0.632000														341			13		0	0	1	0	0
FAM195A	84331	broad.mit.edu	37	16	697444	697444	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:697444T>G	uc002cic.1	+	2	353	c.210T>G	c.(208-210)cgT>cgG	p.R70R	FAM195A_uc002cid.1_Intron|FAM195A_uc021szz.1_Non-coding_Transcript|WDR90_uc002cig.1_5'Flank|WDR90_uc002cih.1_5'Flank|WDR90_uc002cii.1_5'Flank|WDR90_uc002cij.1_5'Flank	NM_138418	NP_612427	Q9BUT9	F195A_HUMAN	Homo sapiens family with sequence similarity 195, member A (FAM195A), mRNA.	70										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						TGTTCAATCGTGTGAATGGCC	0.632000														105			22		0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49510697	49510697	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49510697T>C	uc002xvt.1	-	4	899	c.554A>G	c.(553-555)tAc>tGc	p.Y185C	ADNP_uc002xvu.1_Missense_Mutation_p.Y185C	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	185						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTTCCCTGTAAATGTGCTT	0.448000														176			55		0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66294149	66294149	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66294149C>T	uc001oii.1	+	12	1399	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	BBS1_uc001oil.1_Missense_Mutation_p.R275C|BBS1_uc010rpg.1_Missense_Mutation_p.R307C|BBS1_uc001oij.1_Missense_Mutation_p.R404C|BBS1_uc001oik.1_Missense_Mutation_p.R328C|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.R72C	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	404					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GATCCTGAAGCGTACAGCAGT	0.537000									Bardet-Biedl syndrome					229			13		0	0	1	0	0
C12orf42	374470	broad.mit.edu	37	12	103700054	103700054	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:103700054G>T	uc001tjt.2	-	4	417	c.329C>A	c.(328-330)cCc>cAc	p.P110H	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Missense_Mutation_p.P110H|C12orf42_uc001tju.2_Missense_Mutation_p.P15H	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	110								p.V109D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						AGAACACCTGGGGACTATGTA	0.398000														45			7		8.12818e-05	8.44191e-05	1	1	0
BMP3	651	broad.mit.edu	37	4	81967161	81967161	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81967161T>A	uc003hmg.4	+	1	906	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	196					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						AGATATTATGTCCTGGCTGTC	0.443000														233			41		0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29135533	29135533	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29135533G>A	uc002rmo.2	+	3	595	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	SNORD92_uc002rmp.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	188						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TCAGCTGGTCGAACAATCAAA	0.378000														92			33		0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827764	1827764	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827764C>A	uc002cmu.3	-	5	796	c.705G>T	c.(703-705)aaG>aaT	p.K235N	SPSB3_uc002cmt.3_Missense_Mutation_p.K107N|SPSB3_uc010uvm.2_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	235	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACTTCCTGTTCTTGAAAAAGG	0.617000														111			23		3.62473e-10	4.06567e-10	1	1	0
F2RL3	9002	broad.mit.edu	37	19	17001352	17001352	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17001352C>A	uc002nfa.3	+	1	1253	c.1078C>A	c.(1078-1080)Ccg>Acg	p.P360T		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCAACGGTCGCCGGGGGACAC	0.647000														33			8		0.00307968	0.00313564	1	1	0
MYT1	4661	broad.mit.edu	37	20	62839313	62839313	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62839313T>C	uc002yii.3	+	6	1128	c.764T>C	c.(763-765)cTg>cCg	p.L255P	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	255	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAGGCATCCTGAGTCACgaa	0.597000														44			6		0	0	1	0	0
FAM159A	348378	broad.mit.edu	37	1	53122577	53122577	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53122577C>T	uc001cuf.3	+	2	538	c.438C>T	c.(436-438)agC>agT	p.S146S	FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.3_Intron	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	146						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGCTGGAGAGCAATGAGGGGC	0.577000														211			60		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158636273	158636273	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158636273C>A	uc001fst.1	-	15	2252	c.2053G>T	c.(2053-2055)Gag>Tag	p.E685*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	685					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.H684N(1)		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)					TGGTTGGCCTCATGCAACTGG	0.448000														65			11		4.68919e-08	5.11014e-08	1	1	0
NOS3	4846	broad.mit.edu	37	7	150696386	150696386	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150696386C>T	uc003wif.3	+	8	1361	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G	NOS3_uc011kuy.2_Silent_p.G149G|NOS3_uc011kva.2_Silent_p.G355G|NOS3_uc011kuz.2_Silent_p.G355G|NOS3_uc011kvb.2_Silent_p.G355G	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	355	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCTTCAGTGGCTGGTACATGA	0.642000														314			47		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12292728	12292728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12292728G>A	uc003nae.4	+	1	553	c.219G>A	c.(217-219)tgG>tgA	p.W73*	EDN1_uc010jpb.3_Nonsense_Mutation_p.W73*|EDN1_uc003nad.3_Nonsense_Mutation_p.W73*|EDN1_uc003naf.4_Nonsense_Mutation_p.W72*	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	73		Cleavage; by KEL.			artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				ACATCATTTGGGTCAACACTC	0.542000														168			35		0	0	1	0	0
FAM178A	55719	broad.mit.edu	37	10	102684141	102684141	+	Silent	SNP	C	T	T	rs141433125		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102684141C>T	uc001krs.3	+	4	1925	c.1383C>T	c.(1381-1383)acC>acT	p.T461T	FAM178A_uc001krr.1_Silent_p.T461T|FAM178A_uc001krt.4_Silent_p.T461T|FAM178A_uc001kru.1_Silent_p.T396T	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	461																	AAAATAAAACCGCTAGCTCCA	0.413000														180			42		0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20625673	20625673	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:20625673G>A	uc001umr.3	+	13	2691	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	ZMYM2_uc001ums.3_Missense_Mutation_p.R798H|ZMYM2_uc021rgy.1_Missense_Mutation_p.R798H|ZMYM2_uc001umt.3_Missense_Mutation_p.R798H|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Missense_Mutation_p.R178H|ZMYM2_uc001umw.3_Missense_Mutation_p.R251H	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TGCTTACTGCGTTTCTACTGT	0.398000														51			18		0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19420014	19420014	+	RNA	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:19420014A>G	uc010tcj.1	-	0		c.26096T>C								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		AAAGACTATAATCTTTATAAA	0.274000														45			6		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66280142	66280142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66280142G>A	uc003hcy.3	-	6	1740	c.1547C>T	c.(1546-1548)aCg>aTg	p.T516M	EPHA5_uc003hcx.3_Missense_Mutation_p.T447M|EPHA5_uc003hcz.3_Missense_Mutation_p.T516M|EPHA5_uc011cah.2_Missense_Mutation_p.T516M|EPHA5_uc011cai.2_Missense_Mutation_p.T516M|EPHA5_uc003hda.2_Missense_Mutation_p.T516M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	516	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTGATAATCGTGTAGCTGGT	0.388000										TSP Lung(17;0.13)				102			20		0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77193710	77193710	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77193710C>T	uc010xfg.2	+	2	1811	c.1358C>T	c.(1357-1359)gCg>gTg	p.A453V	NFATC1_uc002lnc.1_Missense_Mutation_p.A453V|NFATC1_uc010xff.1_Missense_Mutation_p.A453V|NFATC1_uc002lnd.3_Missense_Mutation_p.A453V|NFATC1_uc002lne.3_5'UTR|NFATC1_uc010xfh.2_Missense_Mutation_p.A453V|NFATC1_uc010xfi.1_Missense_Mutation_p.A440V|NFATC1_uc010xfj.2_5'UTR|NFATC1_uc002lnf.3_Missense_Mutation_p.A440V|NFATC1_uc002lng.3_Missense_Mutation_p.A440V|NFATC1_uc010xfk.2_Missense_Mutation_p.A440V	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	453	RHD.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GCCGTGAAGGCGTCGGCCGGA	0.632000														237			79		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466323	120466323	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120466323G>T	uc001eik.3	-	25	5093	c.4796C>A	c.(4795-4797)gCt>gAt	p.A1599D		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1599	Negative regulatory region (NRR).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCTTCATAGCAGCTGACTT	0.517000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					125			15		6.94344e-10	7.75807e-10	1	1	0
AK301679	0	broad.mit.edu	37	17	18344603	18344603	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18344603C>A	uc010vya.1	+	2		c.809C>A								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		GATAGAAGGCCTGAAGGAGGA	0.627000														36			26		1.17739e-12	1.36172e-12	1	1	0
DDR1	780	broad.mit.edu	37	6	30865220	30865220	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30865220C>A	uc003nrv.3	+	13	2122	c.2080C>A	c.(2080-2082)Ctg>Atg	p.L694M	DDR1_uc010jse.3_Missense_Mutation_p.L651M|DDR1_uc003nrq.3_Missense_Mutation_p.L651M|DDR1_uc003nrr.3_Missense_Mutation_p.L688M|DDR1_uc003nrs.3_Missense_Mutation_p.L688M|DDR1_uc003nrt.3_Missense_Mutation_p.L651M|DDR1_uc011dms.2_Missense_Mutation_p.L669M|DDR1_uc003nru.3_Missense_Mutation_p.L651M|DDR1_uc003nry.2_3'UTR|DDR1_uc003nrx.2_Missense_Mutation_p.L542M|DDR1_uc003nrw.1_Missense_Mutation_p.L423M	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	688	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATTCGGCTGCTGGGCGTGTG	0.537000														128			33		9.21846e-06	9.72479e-06	1	1	0
PLS1	5357	broad.mit.edu	37	3	142430842	142430842	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142430842T>C	uc010huv.3	+	15	2042	c.1883T>C	c.(1882-1884)aTa>aCa	p.I628T	PLS1_uc003euz.3_Missense_Mutation_p.I628T|PLS1_uc003eva.3_Missense_Mutation_p.I628T	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	628						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						CTGAACAGAATAAAATAATCA	0.373000														128			33		0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457894	6457894	+	Splice_Site	SNP	G	A	A	rs72657549		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6457894G>A	uc001qnw.3	-	11	2070	c.1806_splice	c.e11+1	p.T602_splice	SCNN1A_uc001qnv.3_Splice_Site_p.T243_splice|SCNN1A_uc001qnx.3_Splice_Site_p.T543_splice|SCNN1A_uc010sfb.2_Splice_Site_p.T566_splice	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	543					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	ACGACCTACCGTGACAGAGGG	0.537000														155			17		0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179503899	179503899	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179503899A>C	uc001gmo.3	+	24	3220	c.2833A>C	c.(2833-2835)Aag>Cag	p.K945Q	AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.K829Q|AXDND1_uc009wxh.3_Non-coding_Transcript	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	945	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						GGCAGAGGAGAAGTTTGAAGA	0.348000														89			15		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118950319	118950319	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118950319C>T	uc004bjn.3	+	1	1683	c.1302C>T	c.(1300-1302)ggC>ggT	p.G434G	PAPPA_uc011lxp.1_Silent_p.G227G|PAPPA_uc011lxq.2_Silent_p.G227G	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	434	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CGCTGACGGGCCACGACGGCG	0.607000														140			21		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40060864	40060864	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40060864G>A	uc003ayc.3	+	20	3787	c.3787G>A	c.(3787-3789)Ggg>Agg	p.G1263R	CACNA1I_uc003ayd.3_Missense_Mutation_p.G1228R|CACNA1I_uc003aye.3_Missense_Mutation_p.G1178R|CACNA1I_uc003ayf.3_Missense_Mutation_p.G1143R	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1263					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)	GGCCTCAGCCGGGGGAGCCAA	0.647000														134			10		0	0	1	0	0
AOC2	314	broad.mit.edu	37	17	40997013	40997013	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40997013G>A	uc002ibu.3	+	0	405	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	AOC2_uc002ibt.3_Missense_Mutation_p.V124I	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	124					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	p.I123T(1)|p.I123V(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		ACTGGCCATCGTCCTCTTTGG	0.667000														161			53		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45874915	45874915	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45874915C>A	uc010zxy.1	-	13	2224	c.2142G>T	c.(2140-2142)aaG>aaT	p.K714N	ZMYND8_uc010ghq.1_Missense_Mutation_p.K364N|ZMYND8_uc010ghr.1_Missense_Mutation_p.K662N|ZMYND8_uc002xst.1_Missense_Mutation_p.K615N|ZMYND8_uc002xsu.1_Missense_Mutation_p.K687N|ZMYND8_uc002xsv.1_Missense_Mutation_p.K615N|ZMYND8_uc002xsw.1_Missense_Mutation_p.K439N|ZMYND8_uc002xsx.1_Missense_Mutation_p.K439N|ZMYND8_uc002xsy.1_Missense_Mutation_p.K662N|ZMYND8_uc002xsz.1_Missense_Mutation_p.K624N|ZMYND8_uc002xta.1_Missense_Mutation_p.K687N|ZMYND8_uc002xtb.1_Missense_Mutation_p.K707N|ZMYND8_uc002xss.2_Missense_Mutation_p.K687N|ZMYND8_uc010zxz.1_Missense_Mutation_p.K682N|ZMYND8_uc002xtc.1_Missense_Mutation_p.K707N|ZMYND8_uc002xtd.1_Missense_Mutation_p.K682N|ZMYND8_uc002xte.1_Missense_Mutation_p.K687N|ZMYND8_uc010zya.1_Missense_Mutation_p.K687N|ZMYND8_uc002xtf.1_Missense_Mutation_p.K707N|ZMYND8_uc002xtg.3_Missense_Mutation_p.K681N|ZMYND8_uc010ghs.2_Missense_Mutation_p.K681N	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	687							protein binding|zinc ion binding	p.K707N(1)|p.D714H(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCAGTTTATCCTTTATGGGGT	0.507000														265			24		2.89027e-11	3.28353e-11	1	1	0
ZNF2	7549	broad.mit.edu	37	2	95847399	95847399	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95847399C>T	uc002suf.3	+	4	1288	c.826C>T	c.(826-828)Cac>Tac	p.H276Y	ZNF2_uc002sug.3_Missense_Mutation_p.H234Y|ZNF2_uc010yue.2_Missense_Mutation_p.H238Y|ZNF2_uc010fhs.3_Missense_Mutation_p.H196Y	NM_021088	NP_066574	Q9BSG1	ZNF2_HUMAN	Homo sapiens zinc finger protein 2 (ZNF2), transcript variant 1, mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R275Q(1)		endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CCTTACTCGACACCAGAGAAT	0.453000														189			34		0	0	1	0	0
SSTR4	6754	broad.mit.edu	37	20	23016448	23016448	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23016448C>T	uc002wsr.2	+	0	392	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCGCCCTGCGCCACTGGCC	0.642000														392			43		0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037363	152037363	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152037363C>A	uc004fgt.1	+	8	1086	c.825C>A	c.(823-825)ttC>ttA	p.F275L	NSDHL_uc004fgs.1_Missense_Mutation_p.F275L	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	275					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCATCCCTTTCTGGACATTCC	0.537000														333			94		4.90379e-48	6.25473e-48	1	1	0
MYT1L	23040	broad.mit.edu	37	2	1926559	1926559	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1926559C>A	uc002qxe.3	-	9	1809	c.982G>T	c.(982-984)Gag>Tag	p.E328*	MYT1L_uc002qxd.3_Nonsense_Mutation_p.E328*|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	328					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTCAAACACTCCAGACTGCTC	0.512000														120			35		1.45844e-13	1.7027e-13	1	1	0
LMOD1	25802	broad.mit.edu	37	1	201868668	201868668	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201868668C>T	uc021phl.1	-	1	1721	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	LMOD1_uc021phm.1_Silent_p.E491E|LMOD1_uc010ppu.2_Silent_p.E440E	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	491					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GATCCTTCTTCTCTCCCTTGG	0.577000														50			4		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33567510	33567510	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33567510G>A	uc002xbi.2	+	6	688	c.371G>A	c.(370-372)cGc>cAc	p.R124H	MYH7B_uc010gfa.1_Missense_Mutation_p.R82H	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	82	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AACCCGCCTCGCTTCGACTTA	0.632000														173			42		0	0	1	0	0
C7orf43	55262	broad.mit.edu	37	7	99754149	99754149	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99754149C>T	uc003utr.3	-	7	1280	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	C7orf43_uc010lgo.3_5'UTR|C7orf43_uc010lgp.3_5'UTR|C7orf43_uc011kjj.2_Missense_Mutation_p.R135H|C7orf43_uc003uts.3_Missense_Mutation_p.R98H	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	367								p.R367H(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAACACGGGCGGTCCAAGCG	0.557000														53			17		0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74762766	74762766	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74762766G>A	uc002smp.1	-	7	1437	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	LOXL3_uc002smo.1_Silent_p.A94A|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Silent_p.A310A|LOXL3_uc010ffn.1_Silent_p.A310A	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	455	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGGCCACCATGGCCTCCAGGG	0.647000														293			116		0	0	1	0	0
RCOR1	23186	broad.mit.edu	37	14	103174849	103174849	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103174849G>A	uc001ymb.3	+	5	936	c.699G>A	c.(697-699)tgG>tgA	p.W233*		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	233	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|protein binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACTATTCTTGGAAGAAGACGA	0.383000														380			73		0	0	1	0	0
INPP5E	56623	broad.mit.edu	37	9	139333311	139333311	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139333311G>A	uc004cho.3	-	0	946	c.561C>T	c.(559-561)agC>agT	p.S187S	INPP5E_uc010nbm.3_Silent_p.S187S	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	187	13 X 4 AA repeats of P-X-X-P.					Golgi cisterna membrane|cilium axoneme|cytoskeleton	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGGCAGCAGGCTGGGCAGCC	0.697000														46			5		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66339816	66339816	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66339816G>A	uc002jhc.2	+	2	1086	c.290G>A	c.(289-291)gGc>gAc	p.G97D		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	97					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGCCGGCTTGGCCTTCGCAAT	0.612000														130			27		0	0	1	0	0
TBK1	29110	broad.mit.edu	37	12	64895141	64895141	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64895141C>T	uc001ssc.2	+	20	2329	c.2170C>T	c.(2170-2172)Cgc>Tgc	p.R724C		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	724					I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGGTGGCCTTCGCAACGTTGA	0.368000														115			20		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24724683	24724683	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24724683C>T	uc001wod.3	-	10	1656	c.1532G>A	c.(1531-1533)gGc>gAc	p.G511D	TGM1_uc010tog.2_Missense_Mutation_p.G69D	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	511					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGAAGCTGCCATCATCCTG	0.552000														115			12		0	0	1	0	0
PKIB	5570	broad.mit.edu	37	6	123046319	123046319	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:123046319G>A	uc003pzc.3	+	4	396	c.237G>A	c.(235-237)aaG>aaA	p.K79K	PKIB_uc003pyz.3_Silent_p.K72K|PKIB_uc003pza.3_Silent_p.K72K|PKIB_uc003pzb.3_Silent_p.K72K|PKIB_uc011ebq.2_Silent_p.K72K	NM_181795	NP_861460	Q9C010	IPKB_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor beta (PKIB), transcript variant 1, mRNA.	72							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AATTGGAAAAGCCTCAAAATG	0.294000														16			7		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565026	58565026	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58565026C>T	uc002qrc.1	+	5	1081	c.834C>T	c.(832-834)ggC>ggT	p.G278G		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	278					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGTTGCAGGCATCTCGGTAG	0.622000														186			17		0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071373	150071373	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150071373G>A	uc003lst.3	-	10	1325	c.1203C>T	c.(1201-1203)caC>caT	p.H401H		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	401	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding	p.H401N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGAAGGATAGTGGATTGGTC	0.552000														140			27		0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17844978	17844978	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:17844978G>A	uc003gpp.3	+	20	3154	c.2978G>A	c.(2977-2979)cGa>cAa	p.R993Q	NCAPG_uc011bxj.2_Missense_Mutation_p.R502Q|LCORL_uc021xmq.1_3'UTR|LCORL_uc003gpq.3_3'UTR|LCORL_uc011bxk.2_3'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	993					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		CTACCAAGACGAGCCAAAACC	0.363000														109			23		0	0	1	0	0
LYG1	129530	broad.mit.edu	37	2	99909057	99909057	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99909057G>A	uc010yvo.2	-	4	420	c.90C>T	c.(88-90)agC>agT	p.S30S	MRPL30_uc002szl.1_Intron|LYG1_uc002szy.3_Silent_p.S30S	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	Homo sapiens lysozyme G-like 1 (LYG1), mRNA.	30					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GGGTGTCCAGGCTTTGGATGT	0.493000														125			34		0	0	1	0	0
HTR4	3360	broad.mit.edu	37	5	147845485	147845485	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147845485G>A	uc021yfg.1	-	5	1127	c.1080C>T	c.(1078-1080)ggC>ggT	p.G360G	HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Non-coding_Transcript	NM_199453	NP_955525	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant g, mRNA.	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAGGGGAACAGCCACTTTTAG	0.428000														226			46		0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55600201	55600201	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:55600201A>T	uc010qhy.1	-	29	4272	c.3877T>A	c.(3877-3879)Tcc>Acc	p.S1293T	PCDH15_uc010qhq.2_Missense_Mutation_p.S1293T|PCDH15_uc010qhr.2_Missense_Mutation_p.S1288T|PCDH15_uc021pqv.1_Missense_Mutation_p.S1288T|PCDH15_uc021pqw.1_Missense_Mutation_p.S1300T|PCDH15_uc010qht.2_Missense_Mutation_p.S1295T|PCDH15_uc021pqx.1_Missense_Mutation_p.S1288T|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.S1288T|PCDH15_uc021pqz.1_Missense_Mutation_p.S1266T|PCDH15_uc010qhv.1_Missense_Mutation_p.S1288T|PCDH15_uc010qhw.1_Missense_Mutation_p.S1251T|PCDH15_uc010qhx.1_Missense_Mutation_p.S1217T|PCDH15_uc010qhz.1_Missense_Mutation_p.S1288T|PCDH15_uc010qia.1_Missense_Mutation_p.S1266T|PCDH15_uc001jju.1_Missense_Mutation_p.S1288T|PCDH15_uc010qib.1_Missense_Mutation_p.S1266T	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1288					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.R1293W(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTCCAATGGACTCCACTACG	0.458000										HNSCC(58;0.16)				78			25		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38753722	38753722	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38753722C>T	uc003ciq.3	-	21	4019	c.4019G>A	c.(4018-4020)aGc>aAc	p.S1340N		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1340					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAAGAAGCTGCCAGTGGA	0.428000														171			26		0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46609140	46609140	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46609140A>G	uc002ruv.3	+	13	2709	c.2199A>G	c.(2197-2199)tcA>tcG	p.S733S	EPAS1_uc002ruw.3_Silent_p.S199S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	733					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCAGCACCTCACATTTGATGT	0.592000														64			25		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118769762	118769762	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118769762G>A	uc001pug.3	-	7	4827	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	BCL9L_uc009zal.3_Missense_Mutation_p.R1283C	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1288	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TCGCCCATGCGCCCAGCCATG	0.692000														61			17		0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666038	20666038	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20666038C>A	uc010tlb.2	+	0	544	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	182					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)		CTGTACCAATCTTGTGGTCAA	0.443000														93			15		1.99824e-07	2.15697e-07	1	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361526	105361526	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105361526G>A	uc003ylx.1	+	1	795	c.746G>A	c.(745-747)aGa>aAa	p.R249K		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	249					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TACATCACCAGACAATTTGTT	0.493000														164			35		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059546	45059546	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45059546G>A	uc001zuf.2	+	7	1974	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	TRIM69_uc001zug.1_Missense_Mutation_p.R360K|TRIM69_uc001zuh.1_Missense_Mutation_p.R201K|TRIM69_uc001zui.1_Missense_Mutation_p.R156K|TRIM69_uc010bdy.1_Missense_Mutation_p.R139K	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	360	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATCCTGAGAGGTTTGACTCA	0.478000														182			43		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131622691	131622691	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131622691G>A	uc010tbm.2	+	24	3101	c.2542G>A	c.(2542-2544)Gcc>Acc	p.A848T	GPR133_uc001uit.4_Missense_Mutation_p.A816T|GPR133_uc009zyo.3_Missense_Mutation_p.A98T|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	816					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGTGAGAGCCGCCTTCAAGCA	0.597000														107			27		0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816882	6816882	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6816882C>T	uc001mes.1	-	0	258	c.58G>A	c.(58-60)Gct>Act	p.A20T		NM_003696	NP_003687	O95222	OR6A2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily A, member 2 (OR6A2), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCGCAGGAGCAGGGAAGCCC	0.498000														117			25		0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	828350	828350	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:828350G>A	uc002lpz.1	+	1	195	c.179G>A	c.(178-180)cGc>cAc	p.R60H		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	60	Hydrophobic.|Peptidase S1.|Possesses antibiotic activity.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCATGCCCGCTTCGTGATG	0.667000														196			65		0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47058959	47058959	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47058959G>A	uc004dhj.4	+	4	577	c.426G>A	c.(424-426)gtG>gtA	p.V142V	UBA1_uc004dhk.4_Silent_p.V142V	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	142	2 approximate repeats.				cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAGCTATGTGCCTGTCACTG	0.567000														233			57		0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573396	20573396	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20573396C>T	uc002kua.3	+	10	1729	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	RBBP8_uc002ktw.3_Missense_Mutation_p.R536C|RBBP8_uc002kty.3_Missense_Mutation_p.R536C|RBBP8_uc002ktz.3_Missense_Mutation_p.R536C|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Missense_Mutation_p.R536C	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	536					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCCTCAAGCCGTAAGGCCTC	0.468000								Homologous recombination						80			27		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38595864	38595864	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38595864G>A	uc021wvo.1	-	25	4771	c.4719C>T	c.(4717-4719)ggC>ggT	p.G1573G	SCN5A_uc021wvk.1_Splice_Site_p.G1572_splice|SCN5A_uc021wvl.1_Silent_p.G1519G|SCN5A_uc021wvm.1_Silent_p.G1555G|SCN5A_uc021wvn.1_Silent_p.G1572G|SCN5A_uc021wvp.1_Silent_p.G1573G|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_Splice_Site|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.G1385G|SCN5A_uc021wvi.1_Silent_p.G1439G	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1573					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAATACACTCGCCTGTGAAGA	0.498000														145			27		0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45909502	45909502	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:45909502G>A	uc002ima.3	+	1	410	c.47G>A	c.(46-48)tGc>tAc	p.C16Y	MRPL10_uc002ily.3_5'Flank|MRPL10_uc002ilz.3_5'Flank|MRPL10_uc010wky.2_5'Flank|LRRC46_uc002imb.3_5'UTR	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	16										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGGGGCGTCTGCATCACTGAA	0.532000														220			21		0	0	1	0	0
SEMA4G	57715	broad.mit.edu	37	10	102743421	102743421	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102743421C>A	uc001krw.2	+	13	2449	c.2065C>A	c.(2065-2067)Ctt>Att	p.L689I	SEMA4G_uc001krv.3_Non-coding_Transcript|SEMA4G_uc001krx.3_Intron|MRPL43_uc001kry.1_Intron|MRPL43_uc010qpu.1_Intron|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Intron|MRPL43_uc001ksb.1_Intron	NM_017893	NP_060363	Q9NTN9	SEM4G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G (SEMA4G), transcript variant 1, mRNA.	684					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CATTGCCGCGCTTGGTGGCCT	0.652000														53			10		2.80697e-09	3.10977e-09	1	1	0
DHX8	1659	broad.mit.edu	37	17	41599414	41599414	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41599414G>T	uc002idu.1	+	22	3336	c.3264_splice	c.e22-1	p.R1088_splice	DHX8_uc010wig.2_Splice_Site_p.R1088_splice	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1088						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TATCTTGATAGACACAAGCTG	0.498000														262			49		3.68337e-26	4.59935e-26	1	1	0
CCBE1	147372	broad.mit.edu	37	18	57115222	57115222	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:57115222G>A	uc002lib.3	-	6	838	c.768C>T	c.(766-768)ggC>ggT	p.G256G	CCBE1_uc010dpq.3_Missense_Mutation_p.A32V|CCBE1_uc002lia.3_Silent_p.G109G	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	256	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CACCGGGAGGGCCCTGGCCCC	0.582000														205			45		0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50786282	50786282	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:50786282G>A	uc001zym.4	+	16	2963	c.2463G>A	c.(2461-2463)ggG>ggA	p.G821G	USP8_uc001zyl.4_Silent_p.G821G|USP8_uc001zyn.4_Silent_p.G821G|USP8_uc010ufh.2_Silent_p.G715G|AX746640_uc001zyo.1_Non-coding_Transcript|USP8_uc001zyp.4_5'UTR	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	821					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATTTGTTGGGGCATAAAGGTG	0.348000														85			15		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2134252	2134252	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2134252G>T	uc002con.3	+	33	4135	c.4029G>T	c.(4027-4029)gaG>gaT	p.E1343D	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.E1320D|TSC2_uc002coo.3_Missense_Mutation_p.E1276D|TSC2_uc010uvv.2_Missense_Mutation_p.E1240D|TSC2_uc010uvw.2_Missense_Mutation_p.E1228D|TSC2_uc002cop.3_Missense_Mutation_p.E1099D|TSC2_uc002coq.3_Missense_Mutation_p.E118D	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1343					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGCCAGGAGGAGAAGTCGC	0.647000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					35			11		0.000673444	0.000690401	1	1	0
SEC14L3	266629	broad.mit.edu	37	22	30856091	30856091	+	Missense_Mutation	SNP	C	T	T	rs142573310	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30856091C>T	uc003ahy.3	-	11	1209	c.1120G>A	c.(1120-1122)Gcc>Acc	p.A374T	SEC14L3_uc003ahz.3_Missense_Mutation_p.A297T|SEC14L3_uc003aia.3_Missense_Mutation_p.A315T|SEC14L3_uc003aib.3_Missense_Mutation_p.A315T	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	374	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	ACCTTCTTGGCGTGGACAAAG	0.527000														133			26		0	0	1	0	0
TMC6	11322	broad.mit.edu	37	17	76122448	76122448	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76122448C>T	uc002juj.1	-	3	308	c.182_splice	c.e3-1	p.G61_splice	TMC6_uc010dhf.1_Splice_Site|TMC6_uc002juk.2_Splice_Site_p.G61_splice|TMC6_uc010dhg.1_Splice_Site_p.G61_splice|TMC6_uc002jul.1_Splice_Site_p.G61_splice|TMC6_uc002jum.4_5'Flank|TMC6_uc002jun.4_Splice_Site_p.G61_splice|TMC6_uc002juo.2_Splice_Site|TMC6_uc010wtp.1_5'Flank|TMC6_uc010wtq.1_Intron	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	61						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TGGCTACTTCCTACAAAGCAA	0.637000														32			11		0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74308979	74308979	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74308979C>T	uc010wtb.1	-	8	883	c.662G>A	c.(661-663)cGc>cAc	p.R221H	PRPSAP1_uc010wta.1_Missense_Mutation_p.R324H	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	295					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTCAATCAGGCGAGGGGCCTC	0.498000														146			29		0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117856270	117856270	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:117856270C>T	uc001lcj.3	-	6	1474	c.776G>A	c.(775-777)cGc>cAc	p.R259H	GFRA1_uc001lci.3_Missense_Mutation_p.R254H|GFRA1_uc009xyr.3_Missense_Mutation_p.R254H	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	259					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		ATCCGCAAGGCGAGATCTACA	0.473000														29			5		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72699238	72699238	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72699238C>A	uc002jlg.3	-	3	486	c.383_splice	c.e3-1	p.A128_splice	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Splice_Site_p.A131_splice|CD300LF_uc010dfw.3_Splice_Site|CD300LF_uc002jlh.3_Splice_Site_p.A128_splice|CD300LF_uc002jli.3_Splice_Site_p.A131_splice|CD300LF_uc010wra.2_Missense_Mutation_p.A143S|CD300LF_uc002jlj.1_Missense_Mutation_p.A146S	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	128						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGACTGGTGCTGTAAACGTA	0.567000														136			28		5.90632e-09	6.51854e-09	1	1	0
DGCR8	54487	broad.mit.edu	37	22	20073696	20073696	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20073696C>T	uc002zri.3	+	1	639	c.210C>T	c.(208-210)taC>taT	p.Y70Y	DGCR8_uc010grz.3_Silent_p.Y70Y|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	70	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TCAACTTCTACGGAGCTTCTC	0.602000														211			40		0	0	1	0	0
PCGF3	10336	broad.mit.edu	37	4	727471	727471	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:727471T>C	uc011bva.1	+	4	477	c.2T>C	c.(1-3)aTg>aCg	p.M1T	PCGF3_uc003gbc.1_Non-coding_Transcript|PCGF3_uc003gbd.1_Non-coding_Transcript|PCGF3_uc003gbe.3_Missense_Mutation_p.M1T|PCGF3_uc010ibh.3_Missense_Mutation_p.M1T|PCGF3_uc003gbh.3_5'Flank	NM_006315	NP_006306	Q3KNV8	PCGF3_HUMAN	Homo sapiens polycomb group ring finger 3 (PCGF3), mRNA.	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						AAGCCAAAGATGTTGACCAGG	0.552000														223			35		0	0	1	0	0
CCR9	10803	broad.mit.edu	37	3	45942482	45942482	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:45942482C>A	uc003coz.2	+	2	382	c.202C>A	c.(202-204)Ctt>Att	p.L68I	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Missense_Mutation_p.L56I|CCR9_uc003cpa.2_Missense_Mutation_p.L56I|CCR9_uc021wwv.1_Missense_Mutation_p.L56I	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	68					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGGCAACAGTCTTGTTATCCT	0.473000														285			70		3.13743e-37	3.98097e-37	1	1	0
KIAA1324	57535	broad.mit.edu	37	1	109714519	109714519	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109714519G>A	uc021orb.1	+	3	720	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	KIAA1324_uc009wex.2_Missense_Mutation_p.A167T|KIAA1324_uc010ovg.2_Missense_Mutation_p.A65T|KIAA1324_uc009wey.3_Missense_Mutation_p.A167T	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	167					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGACTACATCGCCTCCAACAC	0.557000														113			9		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111776115	111776115	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111776115C>T	uc001tsa.2	+	19	3376	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1074						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGGAAAGCATCCTGGGTCTGA	0.622000														145			26		0	0	1	0	0
HCAR2	338442	broad.mit.edu	37	12	123186899	123186899	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123186899C>T	uc001ucx.1	-	0	1006	c.932G>A	c.(931-933)cGc>cAc	p.R311H	HCAR1_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 2 (HCAR2), mRNA.	311			R -> C (in dbSNP:rs7314976).		negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Mepenzolate(DB04843)|Niacin(DB00627)	CTGGAGGCAGCGGTTGATCAA	0.552000														153			32		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80045873	80045873	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80045873G>A	uc002kdu.3	-	17	2940	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	FASN_uc002kdw.1_Silent_p.S157S	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	941					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CGAAGGCACGGGAGGCCTCCA	0.687000														189			54		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35957307	35957307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35957307G>A	uc003jjv.2	-	4	1251	c.1058C>T	c.(1057-1059)cCt>cTt	p.P353L	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.P353L|UGT3A1_uc011cor.2_Missense_Mutation_p.P319L	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	353						integral to membrane	glucuronosyltransferase activity	p.P353T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCACTCTGAGGAAGCCAGTC	0.498000														68			16		0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54606931	54606931	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:54606931G>A	uc001cwv.1	-	2	1451	c.603C>T	c.(601-603)gaC>gaT	p.D201D		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	201	CUB 2.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CAGCCACGTAGTCATAGGTGC	0.662000														99			18		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36884325	36884325	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36884325G>T	uc002ody.1	-	4	1152	c.917C>A	c.(916-918)gCt>gAt	p.A306D		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGCCTGTCAGCACTATTAAG	0.443000														155			32		3.67809e-33	4.64666e-33	1	1	0
ASGR2	433	broad.mit.edu	37	17	7017525	7017525	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7017525C>A	uc002gep.3	-	1	302	c.35G>T	c.(34-36)aGc>aTc	p.S12I	ASGR2_uc002gen.1_Missense_Mutation_p.S12I|ASGR2_uc002geo.2_Missense_Mutation_p.S12I|ASGR2_uc002geq.3_Missense_Mutation_p.S12I|ASGR2_uc002ger.3_Missense_Mutation_p.S12I|ASGR2_uc010clw.2_Missense_Mutation_p.S12I|ASGR2_uc010vtl.1_Non-coding_Transcript	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	12					cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	TTCCTCCGAGCTCAGCTGCTG	0.577000														166			9		3.07112e-06	3.25591e-06	1	1	0
MED15	51586	broad.mit.edu	37	22	20921060	20921060	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20921060G>T	uc002zsp.3	+	6	1077	c.997G>T	c.(997-999)Gct>Tct	p.A333S	MED15_uc002zso.2_Missense_Mutation_p.A262S|MED15_uc002zsq.3_Missense_Mutation_p.A333S|MED15_uc010gso.3_Missense_Mutation_p.A333S|MED15_uc002zsr.3_Missense_Mutation_p.A307S|MED15_uc011ahs.2_Missense_Mutation_p.A307S|MED15_uc002zss.3_Missense_Mutation_p.A252S|MED15_uc011ahu.2_Missense_Mutation_p.A59S	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	333	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACAGGCGCAAGCTCTCCCTGG	0.582000														257			49		4.18559e-23	5.1768e-23	1	1	0
FCGR3B	2215	broad.mit.edu	37	1	161596176	161596176	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161596176C>A	uc009wul.3	-	3	704	c.444G>T	c.(442-444)caG>caT	p.Q148H	FCGR3B_uc021pdo.1_Missense_Mutation_p.Q112H	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	112	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity	p.D147H(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCGAGGGGCCTGGAGCAACA	0.562000														51			12		2.27111e-07	2.44751e-07	1	1	0
FAM181B	220382	broad.mit.edu	37	11	82444633	82444633	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82444633C>T	uc001ozp.3	-	0	274	c.139G>A	c.(139-141)Gcg>Acg	p.A47T		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	47										large_intestine(1)|lung(2)|prostate(1)	4						AGCGCACCCGCCGGAGCCCCG	0.692000														37			10		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554707	140554707	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140554707T>A	uc003lit.3	+	0	2465	c.2291T>A	c.(2290-2292)tTt>tAt	p.F764Y	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	764					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCAAGTTTCTGAAACCA	0.507000														384			39		0	0	1	0	0
GAS7	8522	broad.mit.edu	37	17	9837492	9837492	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9837492G>T	uc002gmg.1	-	8	1037	c.876C>A	c.(874-876)ttC>ttA	p.F292L	GAS7_uc010vvc.1_Missense_Mutation_p.F106L|GAS7_uc002gmh.1_Missense_Mutation_p.F152L|GAS7_uc010vvd.1_Missense_Mutation_p.F244L|GAS7_uc002gmi.2_Missense_Mutation_p.F228L|GAS7_uc002gmj.1_Missense_Mutation_p.F232L|GAS7_uc010coh.1_Missense_Mutation_p.F232L	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	292					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCTTGGCAGAGAACTTGAGGT	0.532000			T	MLL	AML*									59			8		0.000274275	0.000282808	1	1	0
KIAA1430	57587	broad.mit.edu	37	4	186111392	186111392	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186111392G>A	uc003ixf.4	-	1	1106	c.959C>T	c.(958-960)tCc>tTc	p.S320F	KIAA1430_uc003ixg.3_Missense_Mutation_p.S320F	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	320										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		CGACTTTGAGGAGACATCAGG	0.353000														17			7		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187540331	187540331	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187540331C>A	uc003izf.3	-	9	7597	c.7409G>T	c.(7408-7410)gGa>gTa	p.G2470V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2470	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCTAAAAACTCCATCAGACAC	0.448000										HNSCC(5;0.00058)				303			19		5.35267e-07	5.74308e-07	1	1	0
SOWAHB	345079	broad.mit.edu	37	4	77817687	77817687	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77817687G>T	uc003hki.3	-	0	1316	c.1316C>A	c.(1315-1317)gCt>gAt	p.A439D		NM_001029870	NP_001025041	A6NEL2	ANR56_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member B (SOWAHB), mRNA.	439																	AAGGCCCCCAGCTGGATTCCT	0.622000														198			49		2.64894e-19	3.21481e-19	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147844744	147844744	+	Missense_Mutation	SNP	C	T	T	rs141617212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:147844744C>T	uc003weu.2	+	16	3232	c.2716C>T	c.(2716-2718)Cgc>Tgc	p.R906C		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	906	Laminin G-like 3.		R -> H.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAGCAGATCCGCAAGGCCCC	0.562000										HNSCC(39;0.1)				144			33		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378707	103378707	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103378707G>T	uc010fjb.3	+	0	218	c.31G>T	c.(31-33)Gct>Tct	p.A11S	TMEM182_uc002tcc.4_Intron|TMEM182_uc002tcd.4_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	11						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CTTCTTTGGAGCTCTCTTTGG	0.368000														107			26		1.66031e-10	1.87009e-10	1	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174363157	174363157	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:174363157G>A	uc001gjx.3	+	12	1861	c.1584G>A	c.(1582-1584)ccG>ccA	p.P528P	RABGAP1L_uc009wwq.2_Silent_p.P540P|RABGAP1L_uc001gjw.3_Silent_p.P491P|RABGAP1L_uc001gjy.3_Silent_p.P196P|RABGAP1L_uc001gjz.3_Silent_p.P175P	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	528					regulation of protein localization	Golgi apparatus|early endosome|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGCACGACCGAAAGGGCTGT	0.483000														220			17		0	0	1	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242159659	242159659	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242159659C>T	uc001hzk.2	-	3	325	c.250G>A	c.(250-252)Gcc>Acc	p.A84T		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 gamma (MAP1LC3C), mRNA.	84					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAGTAAAAGGCTTCCGTGGCT	0.567000														109			31		0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	8003069	8003069	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8003069G>A	uc002miz.3	-	2	327	c.155C>T	c.(154-156)tCt>tTt	p.S52F	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	52					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTTTCCAGAAGAATATGATTT	0.323000														91			21		0	0	1	0	0
CHUK	1147	broad.mit.edu	37	10	101964413	101964413	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101964413A>G	uc001kqp.3	-	13	1411	c.1356_splice	c.e13-1	p.M452_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	452					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		AGAAGACTTAACCTAAACCAC	0.299000														55			18		0	0	1	0	0
C11orf54	28970	broad.mit.edu	37	11	93487188	93487188	+	Silent	SNP	C	T	T	rs147973802		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:93487188C>T	uc001peh.3	+	4	509	c.315C>T	c.(313-315)ctC>ctT	p.L105L	C11orf54_uc001pef.3_Silent_p.L105L|C11orf54_uc009ywi.3_Silent_p.L105L|C11orf54_uc001peg.3_Silent_p.L105L|C11orf54_uc001pei.3_Silent_p.L86L|C11orf54_uc001pej.3_Silent_p.L86L|C11orf54_uc001pek.3_5'UTR	NM_014039	NP_054758	Q9H0W9	CK054_HUMAN	Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA.	105						nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTCAGACTCTCGGGTTCAATT	0.353000														144			29		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913417	32913417	+	Missense_Mutation	SNP	A	C	C	rs80358718		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913417A>C	uc001uub.1	+	10	5152	c.4925A>C	c.(4924-4926)aAt>aCt	p.N1642T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1642					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)		GTACATGAAAATGTAGAAAAA	0.323000			"""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)				63			9		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24561582	24561582	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24561582C>T	uc002zzi.1	+	30	5122	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	CABIN1_uc021wnc.1_Silent_p.S1615S|CABIN1_uc002zzj.1_Silent_p.S1586S|CABIN1_uc002zzl.2_Silent_p.S1665S|CABIN1_uc002zzm.1_Silent_p.S90S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1665					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACACGCTGAGCGAGCTCGCAG	0.617000														42			12		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484460	43484460	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:43484460C>T	uc003tid.1	+	10	2294	c.1689C>T	c.(1687-1689)atC>atT	p.I563I	HECW1_uc011kbi.1_Silent_p.I563I	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	563					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACATCCGCATCCACACCCTGC	0.682000														176			34		0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67645871	67645871	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67645871C>T	uc002etl.3	+	3	1243	c.799C>T	c.(799-801)Cag>Tag	p.Q267*	CTCF_uc010cek.3_Intron	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	267					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		GAAGACATTCCAGTGTGAGCT	0.388000														157			17		0	0	1	0	0
KIAA1257	57501	broad.mit.edu	37	3	128711980	128711980	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128711980C>A	uc003elj.4	-	1	364	c.168G>T	c.(166-168)gaG>gaT	p.E56D	KIAA1257_uc003elg.1_Missense_Mutation_p.E56D|KIAA1257_uc003eli.4_5'Flank	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	56										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAGATGAGGACTCGATGCTGC	0.597000														229			45		5.20006e-24	6.45208e-24	1	1	0
EPG5	57724	broad.mit.edu	37	18	43438734	43438734	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43438734C>A	uc002lbm.3	-	40	7123	c.7023G>T	c.(7021-7023)caG>caT	p.Q2341H	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Non-coding_Transcript|EPG5_uc010xcq.1_Missense_Mutation_p.Q895H|EPG5_uc002lbn.2_Missense_Mutation_p.Q1216H	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2341					autophagy			p.Q2341H(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						ATCCTGAATTCTGATTGAGAG	0.448000														65			16		6.72482e-11	7.60803e-11	1	1	0
MYH14	79784	broad.mit.edu	37	19	50726596	50726596	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50726596C>A	uc010enu.1	+	4	730	c.683C>A	c.(682-684)cCg>cAg	p.P228Q	MYH14_uc002prq.1_Missense_Mutation_p.P228Q|MYH14_uc002prr.1_Missense_Mutation_p.P228Q	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	228	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGAAGGAGCCGGGTGTCCCC	0.627000														17			6		0.00116845	0.00119477	1	1	0
FDFT1	2222	broad.mit.edu	37	8	11667339	11667339	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11667339G>A	uc003wui.3	+	2	513	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	FDFT1_uc003wuh.3_Missense_Mutation_p.V57M|FDFT1_uc010lsa.1_Missense_Mutation_p.V36M|FDFT1_uc011kxe.2_Missense_Mutation_p.V57M|FDFT1_uc011kxf.2_Missense_Mutation_p.V121M|FDFT1_uc011kxg.2_Intron|FDFT1_uc010lsb.3_Missense_Mutation_p.V57M|FDFT1_uc011kxh.2_Missense_Mutation_p.V57M|FDFT1_uc011kxi.2_Non-coding_Transcript|FDFT1_uc011kxj.2_Missense_Mutation_p.V57M|FDFT1_uc022ary.1_Missense_Mutation_p.V57M|FDFT1_uc011kxk.2_Missense_Mutation_p.V36M	NM_004462	NP_004453	P37268	FDFT_HUMAN	Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), mRNA.	121					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGATCGCCAGGTGCTGGAGGA	0.507000														62			14		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236212087	236212087	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236212087G>A	uc001hxo.3	-	1	530	c.428C>T	c.(427-429)cCg>cTg	p.P143L	NID1_uc009xgd.3_Missense_Mutation_p.P143L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	143	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	AGAGATCTCCGGGAACCCTCT	0.577000														103			45		0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419782	27419782	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27419782T>C	uc003njj.3	-	4	2367	c.1556A>G	c.(1555-1557)cAg>cGg	p.Q519R	ZNF184_uc010jqv.3_Missense_Mutation_p.Q519R|ZNF184_uc003nji.3_Missense_Mutation_p.Q519R	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTGATGCTGATTAAGGTT	0.383000														69			15		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393591	145393591	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:145393591G>A	uc003lnt.3	+	4	1264	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	SH3RF2_uc011dbl.1_Silent_p.E342E	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	342							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCATGGAGAAAGCAGACG	0.552000														192			50		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156590053	156590053	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156590053A>G	uc003lwn.3	-	1	1323	c.1223T>C	c.(1222-1224)aTg>aCg	p.M408T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	408						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)			TCGTTCACTCATGTAGCCTTC	0.502000														143			31		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4432089	4432089	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4432089C>T	uc002mal.3	+	11	2188	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	696	Binds to p60.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGACTGCGCAGGCGATG	0.637000								Chromatin Structure						154			54		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580909	115580909	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:115580909A>G	uc003vhj.2	-	7	993	c.740T>C	c.(739-741)gTc>gCc	p.V247A	TFEC_uc003vhm.2_Missense_Mutation_p.V180A|TFEC_uc003vhk.2_Missense_Mutation_p.V218A|TFEC_uc003vhl.4_3'UTR|TFEC_uc011kmw.2_3'UTR	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	247						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTGTTTGGTGACATGAGCACC	0.468000														191			37		0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2993462	2993462	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2993462C>A	uc002lwt.2	+	14	1528	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E	TLE6_uc002lwu.2_Missense_Mutation_p.D350E	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGGAGGACTGGGTGCTGC	0.632000														91			10		4.68919e-08	5.11014e-08	1	1	0
TRIP6	7205	broad.mit.edu	37	7	100470879	100470879	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100470879C>A	uc003uww.3	+	8	1555	c.1385C>A	c.(1384-1386)gCc>gAc	p.A462D	TRIP6_uc010lhk.2_Missense_Mutation_p.A196D|TRIP6_uc022aiv.1_Missense_Mutation_p.A441D|TRIP6_uc022ait.1_Missense_Mutation_p.A196D|TRIP6_uc022aiu.1_Missense_Mutation_p.A196D|SRRT_uc010lhl.1_5'Flank|SRRT_uc003uwy.2_5'Flank|SRRT_uc003uxa.2_5'Flank|SRRT_uc003uwz.2_5'Flank	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	462	LIM zinc-binding 3.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	p.A459_S461delACS(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTGCAGCGCCTGGCGCATC	0.577000														196			36		9.8876e-21	1.20929e-20	1	1	0
NAPEPLD	222236	broad.mit.edu	37	7	102760532	102760532	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102760532G>T	uc011klj.1	-	2	731	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	NAPEPLD_uc003vbd.2_Missense_Mutation_p.L145I|NAPEPLD_uc003vbc.2_Missense_Mutation_p.L145I|NAPEPLD_uc003vbe.2_Non-coding_Transcript	NM_198990	NP_945341	Q6IQ20	NAPEP_HUMAN	Homo sapiens N-acyl phosphatidylethanolamine phospholipase D (NAPEPLD), transcript variant 2, mRNA.	145					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGATCCGTGAGAAATATGAGC	0.498000														138			42		6.5261e-18	7.85662e-18	1	1	0
GLS2	27165	broad.mit.edu	37	12	56866494	56866494	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56866494G>A	uc001slj.3	-	14	1770	c.1491C>T	c.(1489-1491)ggC>ggT	p.G497G	GLS2_uc021qzb.1_Silent_p.G460G|GLS2_uc021qzc.1_Non-coding_Transcript|GLS2_uc021qzd.1_Silent_p.G232G|GLS2_uc009zos.3_Non-coding_Transcript|GLS2_uc001slk.3_Silent_p.G232G|GLS2_uc009zot.3_Silent_p.G158G	NM_013267	NP_037399	Q9UI32	GLSL_HUMAN	Homo sapiens glutaminase 2 (liver, mitochondrial) (GLS2), nuclear gene encoding mitochondrial protein, mRNA.	497					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGAGACATCGCCACTATAGG	0.423000														107			20		0	0	1	0	0
TRO	7216	broad.mit.edu	37	X	54957437	54957437	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54957437G>A	uc004dtq.3	+	11	4387	c.4280G>A	c.(4279-4281)gGc>gAc	p.G1427D	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.G958D|TRO_uc004dtw.3_Missense_Mutation_p.G1030D|TRO_uc004dtx.3_Missense_Mutation_p.G810D	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1427	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GGTGCCTGTGGCTTCTCGTAT	0.557000														62			19		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114454094	114454094	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114454094G>T	uc004bfr.3	-	24	4106	c.3971C>A	c.(3970-3972)tCt>tAt	p.S1324Y	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.S1285Y|C9orf84_uc010mug.3_Missense_Mutation_p.S1235Y	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	1324								p.P1323H(1)		breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ACCTTTCTGAGAGTACAATTT	0.373000														87			7		2.7689e-08	3.02839e-08	1	1	0
ALKBH6	84964	broad.mit.edu	37	19	36501912	36501912	+	Missense_Mutation	SNP	G	A	A	rs149341422		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36501912G>A	uc002ocv.1	-	4	310	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	C19orf46_uc021utd.1_5'Flank|C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocw.1_Missense_Mutation_p.R102W|ALKBH6_uc002ocx.1_Missense_Mutation_p.R5W|ALKBH6_uc010eeo.1_Missense_Mutation_p.R74W|ALKBH6_uc010eep.1_Missense_Mutation_p.R102W	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	74	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGGGGCAGCCGCTCAGGAACC	0.597000														39			16		0	0	1	0	0
FAR2	55711	broad.mit.edu	37	12	29469871	29469871	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29469871C>T	uc001rit.3	+	8	1321	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	FAR2_uc001ris.4_Silent_p.Y351Y|FAR2_uc009zjm.3_Silent_p.Y254Y|AX746523_uc001riu.1_Intron	NM_018099	NP_060569	Q96K12	FACR2_HUMAN	Homo sapiens fatty acyl CoA reductase 2 (FAR2), mRNA.	351					ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						CATCACAGTACTGGAATGCGG	0.498000														354			81		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960443	51960443	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51960443G>A	uc002pwt.3	-	2	843	c.776C>T	c.(775-777)gCc>gTc	p.A259V	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.A166V	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	259	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTACCTGTGGCATCTCCTTG	0.562000														175			33		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724600	7724600	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7724600C>T	uc001aoi.3	+	8	2200	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGTGGAGACGCGGATCGAGTC	0.637000			T	WWTR1	epitheliod hemangioendothelioma									364			30		0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497582	73497582	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73497582G>A	uc002joc.3	-	18	4035	c.3485C>T	c.(3484-3486)gCa>gTa	p.A1162V	CASKIN2_uc010wsc.2_Missense_Mutation_p.A1080V	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1162						cytoplasm		p.L1159_A1162del(2)		endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTCTTCTCTGCGGCTCTCAG	0.657000														299			75		0	0	1	0	0
NKX2-4	644524	broad.mit.edu	37	20	21376850	21376850	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21376850T>G	uc010gcz.3	-	1	774	c.764A>C	c.(763-765)cAg>cCg	p.Q255P		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.	255					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CTGCTGCAGCTGCTGCGCCGC	0.701000														29			4		0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77699592	77699592	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:77699592A>G	uc021rks.1	-	53	8163	c.7896T>C	c.(7894-7896)tcT>tcC	p.S2632S	MYCBP2_uc010aev.3_Silent_p.S1998S|MYCBP2_uc001vkg.1_Silent_p.S57S	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2594					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATGTCCCTTCAGAATTGGTTA	0.438000														262			75		0	0	1	0	0
ZNF426	79088	broad.mit.edu	37	19	9639635	9639635	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9639635C>T	uc002mlq.3	-	7	1350	c.1086G>A	c.(1084-1086)aaG>aaA	p.K362K	ZNF426_uc010dws.3_Silent_p.K324K	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443000														75			21		0	0	1	0	0
ADAMTS1	9510	broad.mit.edu	37	21	28210028	28210028	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28210028C>T	uc002ymf.3	-	8	3229	c.2774G>A	c.(2773-2775)gGg>gAg	p.G925E		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	925	TSP type-1 3.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTAACCCTTCCCACAGGTCTT	0.488000														187			47		0	0	1	0	0
C9orf50	375759	broad.mit.edu	37	9	132375527	132375527	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132375527G>A	uc004byc.4	-	5	1249	c.1047C>T	c.(1045-1047)tcC>tcT	p.S349S	C9orf50_uc022boo.1_Silent_p.S348S	NM_199350	NP_955382	Q5SZB4	CI050_HUMAN	Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA.	349										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TCTTCTGGGTGGACCTGGGGG	0.632000														101			29		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274777	74274777	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74274777A>T	uc002skb.4	+	0	1328	c.1328A>T	c.(1327-1329)aAg>aTg	p.K443M	TET3_uc010fez.2_Missense_Mutation_p.K443M	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	443							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAAGGAGAAGAAGAAGAAG	0.592000														61			4		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10532983	10532983	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10532983T>C	uc002gmq.2	-	39	5815	c.5727A>G	c.(5725-5727)gaA>gaG	p.E1909E		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1909					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TATCCGCACGTTCCTCGGCCT	0.552000														151			19		0	0	1	0	0
ABTB2	25841	broad.mit.edu	37	11	34194836	34194836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:34194836C>T	uc001mvl.2	-	3	1688	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	235							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CCATGAGGGGCGGCAGCAGCA	0.706000														37			4		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18025224	18025224	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18025224A>G	uc021trm.1	+	0	3329	c.3110A>G	c.(3109-3111)gAt>gGt	p.D1037G	MYO15A_uc021trl.1_Missense_Mutation_p.D1037G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1037	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCCAAGGATGTCACTCCC	0.612000														254			74		0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135317999	135317999	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135317999T>A	uc003qez.2	-	6	1088	c.881A>T	c.(880-882)aAg>aTg	p.K294M	HBS1L_uc003qey.2_Missense_Mutation_p.K130M|HBS1L_uc011ecy.1_Missense_Mutation_p.K18M|HBS1L_uc011ecz.1_Missense_Mutation_p.K130M|HBS1L_uc011eda.1_Missense_Mutation_p.K252M	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	294					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGTTCATACTTATGCATAGT	0.388000														164			32		0	0	1	0	0
C1orf150	148823	broad.mit.edu	37	1	247737654	247737654	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247737654G>T	uc001idf.3	+	4	525	c.378G>T	c.(376-378)gaG>gaT	p.E126D	C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	126								p.H125R(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCACCCATGAGCATGATTATG	0.438000														85			32		8.16721e-17	9.7615e-17	1	1	0
PRDM13	59336	broad.mit.edu	37	6	100055036	100055036	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100055036G>A	uc003pqg.1	+	0	387	c.126G>A	c.(124-126)gaG>gaA	p.E42E		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	42	SET.				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)		ACCGCAGGGAGCCCGGGCCTA	0.622000														161			29		0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640365	36640365	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36640365G>T	uc002xhl.3	-	2	2063	c.1854C>A	c.(1852-1854)tgC>tgA	p.C618*	TTI1_uc002xhm.3_Nonsense_Mutation_p.C618*	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	618							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGTTCATGGAGCAAATAGTGG	0.458000														239			67		1.40369e-38	1.78317e-38	1	1	0
DAPK1	1612	broad.mit.edu	37	9	90258300	90258300	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90258300C>T	uc004apc.3	+	10	1066	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DAPK1_uc004ape.3_Missense_Mutation_p.R310C|DAPK1_uc004apd.3_Missense_Mutation_p.R310C|DAPK1_uc011ltg.2_Missense_Mutation_p.R310C|DAPK1_uc011lth.2_Missense_Mutation_p.R47C	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	310	Calmodulin-binding.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GCAATCCGTTCGCTTGATATC	0.428000									Chronic Lymphocytic Leukemia, Familial Clustering of					32			7		0	0	1	0	0
FSTL3	10272	broad.mit.edu	37	19	681539	681539	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:681539C>T	uc002lpk.1	+	3	747	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	FSTL3_uc010drt.1_Non-coding_Transcript	NM_005860	NP_005851	O95633	FSTL3_HUMAN	Homo sapiens follistatin-like 3 (secreted glycoprotein) (FSTL3), mRNA.	238	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCGGCGTGCGCCACGCGGG	0.697000			T	CCND1	B-CLL									65			15		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368396	37368396	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368396C>T	uc002oex.3	+	2	1045	c.664C>T	c.(664-666)Cgg>Tgg	p.R222W	ZNF345_uc021utn.1_Missense_Mutation_p.R222W|ZNF345_uc002oey.4_Missense_Mutation_p.R222W|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.R222W|ZNF345_uc021utp.1_Missense_Mutation_p.R222W|ZNF345_uc021utq.1_Missense_Mutation_p.R222W	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	222					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.R221W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAACATCGGCGGATTCATAC	0.443000														106			18		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52496964	52496964	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52496964G>A	uc002pyf.2	-	6	1715	c.1398C>T	c.(1396-1398)ccC>ccT	p.P466P	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Silent_p.P455P|ZNF615_uc002pyh.2_Silent_p.P466P|ZNF615_uc010epi.2_Silent_p.P462P|ZNF615_uc002pyg.2_Silent_p.P347P|ZNF615_uc010ydg.2_Silent_p.P460P	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T466I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGCATACATAGGGTTTCTCTC	0.428000														77			15		0	0	1	0	0
ZNF470	388566	broad.mit.edu	37	19	57088168	57088168	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57088168G>A	uc002qnl.4	+	5	1047	c.371G>A	c.(370-372)aGa>aAa	p.R124K	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAATGGAAAGACTTAAAAGC	0.363000														96			16		0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	524230	524230	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:524230T>G	uc003gak.4	+	10	2403	c.2267T>G	c.(2266-2268)aTt>aGt	p.I756S	PIGG_uc003gaj.4_Missense_Mutation_p.I748S|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Missense_Mutation_p.I623S|PIGG_uc003gal.4_Missense_Mutation_p.I667S	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	756					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						TTTAGGGGTATTATTGAAGCT	0.378000														112			15		0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78837253	78837253	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78837253G>A	uc002bdu.4	+	5	488	c.330G>A	c.(328-330)ttG>ttA	p.L110L	PSMA4_uc010blf.3_Silent_p.L110L|PSMA4_uc002bdv.4_Silent_p.L39L|PSMA4_uc002bdw.4_Silent_p.L86L|PSMA4_uc002bdx.4_Silent_p.L39L	NM_002789	NP_001096138	P25789	PSA4_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 4 (PSMA4), transcript variant 1, mRNA.	110					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GTGAGCAGTTGGTTACAGCGC	0.328000														52			12		0	0	1	0	0
FRMD3	257019	broad.mit.edu	37	9	85862972	85862972	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:85862972G>A	uc004ams.2	-	13	1857	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	FRMD3_uc004amr.1_Missense_Mutation_p.S552L|FRMD3_uc022bja.1_Missense_Mutation_p.S508L|FRMD3_uc004amq.1_Missense_Mutation_p.S209L|FRMD3_uc022biz.1_Missense_Mutation_p.S358L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	552						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						ATCAATACCTGACTCCAAAAG	0.517000														123			24		0	0	1	0	0
FAM46C	54855	broad.mit.edu	37	1	118166379	118166379	+	Missense_Mutation	SNP	G	A	A	rs149654076	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118166379G>A	uc021osq.1	+	0	889	c.889G>A	c.(889-891)Gct>Act	p.A297T	FAM46C_uc001ehe.3_Missense_Mutation_p.A297T	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	297										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AAACCACTTCGCTGAAGAAGA	0.512000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				79			22		0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45849995	45849995	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45849995C>T	uc010zxy.1	-	19	3490	c.3408G>A	c.(3406-3408)acG>acA	p.T1136T	ZMYND8_uc010ghq.1_Silent_p.T740T|ZMYND8_uc010ghr.1_Silent_p.T1011T|ZMYND8_uc002xst.1_Silent_p.T991T|ZMYND8_uc002xsu.1_Silent_p.T982T|ZMYND8_uc002xsv.1_Silent_p.T1037T|ZMYND8_uc002xsw.1_Silent_p.T815T|ZMYND8_uc002xsx.1_Silent_p.T815T|ZMYND8_uc002xsy.1_Silent_p.T1038T|ZMYND8_uc002xsz.1_Silent_p.T1000T|ZMYND8_uc002xta.1_Silent_p.T1109T|ZMYND8_uc002xtb.1_Silent_p.T1083T|ZMYND8_uc002xss.2_Silent_p.T1109T|ZMYND8_uc010zxz.1_Silent_p.T977T|ZMYND8_uc002xtc.1_Silent_p.T1083T|ZMYND8_uc002xtd.1_Silent_p.T1058T|ZMYND8_uc002xte.1_Silent_p.T1063T|ZMYND8_uc010zya.1_Silent_p.T1109T|ZMYND8_uc002xtf.1_Silent_p.T1129T|ZMYND8_uc002xsr.1_Silent_p.T208T	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	1109							protein binding|zinc ion binding	p.P1135Q(1)		NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TCTCAGCTGACGTCTCCTTCT	0.542000														107			22		0	0	1	0	0
CLDN3	1365	broad.mit.edu	37	7	73184317	73184317	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73184317G>A	uc003tzg.4	-	0	284	c.63C>T	c.(61-63)atC>atT	p.I21I		NM_001306	NP_001297	O15551	CLD3_HUMAN	Homo sapiens claudin 3 (CLDN3), mRNA.	21					response to hypoxia	integral to plasma membrane|tight junction	structural molecule activity|transmembrane receptor activity			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				CGCAGCACACGATGGTGCCCA	0.682000														65			14		0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73470641	73470641	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73470641C>T	uc003tzw.3	+	19	1282	c.1191C>T	c.(1189-1191)taC>taT	p.Y397Y	ELN_uc003tzm.1_Non-coding_Transcript|ELN_uc003tzn.3_Silent_p.Y397Y|ELN_uc003tzy.3_Silent_p.Y392Y|ELN_uc003tzz.3_Silent_p.Y361Y|ELN_uc003tzo.3_Silent_p.Y383Y|ELN_uc003tzp.3_Silent_p.Y353Y|ELN_uc003tzq.3_Silent_p.Y280Y|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Silent_p.Y397Y|ELN_uc003tzt.3_Silent_p.Y402Y|ELN_uc003tzu.3_Silent_p.Y402Y|ELN_uc003tzv.3_Silent_p.Y387Y|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.Y387Y|ELN_uc011kff.2_Silent_p.Y397Y	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	397	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TTCCTACTTACGGGGTTGGAG	0.632000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""							272			60		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154150	74154150	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74154150C>T	uc021ulp.1	-	2	1179	c.861G>A	c.(859-861)gaG>gaA	p.E287E		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGAACCAGGGCTCCTTGAACC	0.622000														127			17		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935444	151935444	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:151935444A>C	uc022chl.1	-	0	723	c.723T>G	c.(721-723)gaT>gaG	p.D241E	MAGEA3_uc004fgp.3_Missense_Mutation_p.D241E	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	241	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCTTGGGATCCCCCAAGA	0.542000														309			82		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131498749	131498749	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:131498749C>T	uc010tbm.2	+	13	1992	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	GPR133_uc001uit.4_Missense_Mutation_p.A446V	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	446					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCAAGGATCGCGGAGGCCATG	0.587000														129			24		0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103345315	103345315	+	Missense_Mutation	SNP	C	T	T	rs140250347	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:103345315C>T	uc001dum.3	-	65	5552	c.5234G>A	c.(5233-5235)cGc>cAc	p.R1745H	COL11A1_uc001duk.3_Missense_Mutation_p.R929H|COL11A1_uc001dul.3_Missense_Mutation_p.R1733H|COL11A1_uc001dun.3_Missense_Mutation_p.R1694H|COL11A1_uc009weh.3_Missense_Mutation_p.R1617H	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1733	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1745P(2)		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)		TCCCAGGAAGCGAAGTGCTTT	0.433000														119			7		0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30778156	30778156	+	Missense_Mutation	SNP	G	A	A	rs11556801		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30778156G>A	uc002dzq.3	+	10	2208	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	RNF40_uc010caa.3_Missense_Mutation_p.R463H|RNF40_uc010cab.3_Missense_Mutation_p.R363H|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Missense_Mutation_p.R155H|RNF40_uc002dzr.3_Missense_Mutation_p.R463H|RNF40_uc010vfc.1_5'Flank	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	463			R -> H (in dbSNP:rs11556801).		histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGATGCTGCGCATCGAGTTT	0.612000														49			23		0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52302111	52302111	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52302111C>A	uc001ctc.4	-	4	1087	c.765_splice	c.e4-1	p.R255_splice	NRD1_uc009vzb.3_Splice_Site|NRD1_uc001cte.3_Splice_Site_p.R123_splice|NRD1_uc001ctd.4_Intron|NRD1_uc001ctf.2_Intron|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_Intron|NRD1_uc021onj.1_5'Flank	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	198					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGGTGCAGACCTAAGGAAAAA	0.463000														44			7		0.0293803	0.0295844	1	1	0
SQSTM1	8878	broad.mit.edu	37	5	179260107	179260107	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179260107G>T	uc003mkw.4	+	5	925	c.830G>T	c.(829-831)aGc>aTc	p.S277I	SQSTM1_uc011dgr.2_Missense_Mutation_p.S193I|SQSTM1_uc011dgs.2_Missense_Mutation_p.S193I|SQSTM1_uc003mkx.3_Missense_Mutation_p.S193I	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	277	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding	p.S277G(1)	SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAGTTCCAGCACAGAGGAG	0.597000														92			14		4.14922e-12	4.76557e-12	1	1	0
RERE	473	broad.mit.edu	37	1	8418946	8418946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:8418946G>A	uc001ape.3	-	20	4459	c.3649C>T	c.(3649-3651)Ctc>Ttc	p.L1217F	RERE_uc001apf.3_Missense_Mutation_p.L1217F|RERE_uc001apd.3_Missense_Mutation_p.L663F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1217					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1216C(1)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGTCACTGAGGCGACCTTCA	0.642000														252			22		0	0	1	0	0
NCDN	23154	broad.mit.edu	37	1	36029470	36029470	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:36029470C>T	uc001bza.3	+	6	1840	c.1713C>T	c.(1711-1713)acC>acT	p.T571T	NCDN_uc001bzb.3_Silent_p.T571T|NCDN_uc001bzc.3_Silent_p.T554T	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	571					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ATGTGGCCACCCTGGGGCTCC	0.582000														101			11		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039903	80039903	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:80039903G>A	uc002kdu.3	-	35	6262	c.6145C>T	c.(6145-6147)Cgg>Tgg	p.R2049W	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2049	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTCGTGCCGGCGTTTCTCA	0.657000														86			22		0	0	1	0	0
FAM5B	57795	broad.mit.edu	37	1	177247923	177247923	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:177247923T>C	uc001glf.3	+	7	1547	c.1235_splice	c.e7+2	p.R412_splice	FAM5B_uc001glg.3_Splice_Site_p.R307_splice	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	412						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						CAAGGAGAGGTGAGCACCCCC	0.607000														158			10		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73964157	73964157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73964157C>T	uc003hgp.3	-	25	4771	c.4654G>A	c.(4654-4656)Gca>Aca	p.A1552T	ANKRD17_uc003hgo.3_Missense_Mutation_p.A1439T|ANKRD17_uc003hgq.3_Missense_Mutation_p.A1301T|ANKRD17_uc003hgr.3_Missense_Mutation_p.A1551T	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1552					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGAGAACCTGCCAAAGTTGTC	0.368000														90			11		0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654990	99654990	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99654990G>A	uc003uso.3	+	1	505	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	ZSCAN21_uc011kje.1_Missense_Mutation_p.E120K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E120K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	121	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CACTCTCCTCGAAGATCTGGA	0.577000														98			23		0	0	1	0	0
C21orf91	54149	broad.mit.edu	37	21	19169392	19169392	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19169392G>A	uc002yko.4	-	2	262	c.171C>T	c.(169-171)ggC>ggT	p.G57G	C21orf91_uc002ykq.4_Silent_p.G57G|C21orf91_uc002ykp.4_Silent_p.G57G	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	57										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGTCTTTATGGCCCCTTAATG	0.338000														50			12		0	0	1	0	0
LENG8	114823	broad.mit.edu	37	19	54965677	54965677	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54965677G>T	uc002qfv.1	+	4	528	c.384G>T	c.(382-384)caG>caT	p.Q128H	LENG8_uc002qfw.2_Missense_Mutation_p.Q165H			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	128							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGTCGGCTCAGCCCCCTCAGC	0.682000														87			19		8.10497e-08	8.79904e-08	1	1	0
CDH7	1005	broad.mit.edu	37	18	63547943	63547943	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:63547943C>T	uc002lkb.3	+	11	2597	c.2171C>T	c.(2170-2172)gCt>gTt	p.A724V	CDH7_uc002ljz.3_Missense_Mutation_p.A724V	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	724					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GATCCTGGTGCTCCTCCTTAT	0.418000														199			33		0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21224637	21224637	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224637C>T	uc011ahw.2	+	1	357	c.250C>T	c.(250-252)Cag>Tag	p.Q84*		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	84					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GCTCGCCCGTCAGCGAGGAGT	0.532000														130			23		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116441246	116441246	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116441246G>T	uc003pwm.3	-	2	2129	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	678	C1q.|Nonhelical region (NC1).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TCACATTGGAGCCACTAGGAA	0.458000														198			20		2.37509e-13	2.76693e-13	1	1	0
KIF26B	55083	broad.mit.edu	37	1	245850027	245850027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:245850027G>A	uc001ibf.1	+	11	4182	c.3742G>A	c.(3742-3744)Gtc>Atc	p.V1248I	KIF26B_uc001ibg.1_Missense_Mutation_p.V866I|KIF26B_uc001ibh.1_Missense_Mutation_p.V490I	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1248					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CACGGCCCCCGTCTCCGAGGT	0.652000														58			16		0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96813603	96813603	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:96813603A>G	uc001yfi.3	-	1	603	c.238T>C	c.(238-240)Tca>Cca	p.S80P		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	80										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		CATGGAACTGACAGGGAAATT	0.458000														55			7		0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136218201	136218201	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136218201C>T	uc004cde.1	+	7	811	c.781C>T	c.(781-783)Ctt>Ttt	p.L261F		NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	261					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		GGCTAAAGAACTTGCCACTAA	0.418000														40			11		0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111758430	111758430	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758430C>T	uc001tsa.2	+	16	2771	c.2617C>T	c.(2617-2619)Ccg>Tcg	p.P873S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	873						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGCCTACGTGCCGCGCACCCT	0.716000														60			6		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144946699	144946699	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144946699G>T	uc021ouh.1	-	4	864	c.562C>A	c.(562-564)Ctt>Att	p.L188I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L188I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L254I|PDE4DIP_uc001emd.2_Missense_Mutation_p.L188I|PDE4DIP_uc001emc.2_Missense_Mutation_p.L188I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	188					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTCTACAAGCCTCTCCTGG	0.433000			T	PDGFRB	MPD									149			17		2.5808e-16	3.07748e-16	1	1	0
NUDT16	131870	broad.mit.edu	37	3	131102014	131102014	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:131102014C>T	uc003eog.2	+	2	457	c.417C>T	c.(415-417)ggC>ggT	p.G139G	LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Silent_p.G93G|NUDT16_uc011bln.2_Silent_p.G93G	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.	139	Nudix hydrolase.					nucleolus|nucleoplasm	RNA binding|hydrolase activity|metal ion binding			large_intestine(1)|lung(6)	7						AGGTGCTGGGCCTGGTGCGAG	0.572000														158			21		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52886914	52886914	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52886914G>A	uc001sam.3	-	0	268	c.59C>T	c.(58-60)gCc>gTc	p.A20V		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	20	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGAGTTGGCACTGAAACC	0.647000														140			32		0	0	1	0	0
COPG1	22820	broad.mit.edu	37	3	128991698	128991698	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128991698A>C	uc003els.3	+	20	2307	c.2207A>C	c.(2206-2208)gAt>gCt	p.D736A	COPG1_uc010htb.3_Missense_Mutation_p.D642A	NM_016128	NP_057212	Q9Y678	COPG_HUMAN	Homo sapiens coatomer protein complex, subunit gamma (COPG), mRNA.	736	Interaction with ZNF289/ARFGAP2.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity										AAGGACTGTGATCCCACCACT	0.532000														53			7		0	0	1	0	0
WDR73	84942	broad.mit.edu	37	15	85191804	85191804	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:85191804C>T	uc002bkw.2	-	3	267	c.251G>A	c.(250-252)aGg>aAg	p.R84K	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.R84K	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	84										cervix(1)|large_intestine(1)|lung(1)	3						AAAGATAGACCTGTCTGAAAA	0.453000														156			21		0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029240	219029240	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219029240G>A	uc021vwq.1	-	0	695	c.695C>T	c.(694-696)gCc>gTc	p.A232V	CXCR1_uc002vhc.3_Missense_Mutation_p.A232V|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	232					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						CCCCATGTGGGCCTTAAACAG	0.562000														256			76		0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29810350	29810350	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29810350C>T	uc002dts.3	+	4	627	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	BOLA2_uc010bzb.1_Intron|KIF22_uc010vdv.1_Missense_Mutation_p.R134W|KIF22_uc010vdw.1_Missense_Mutation_p.R134W	NM_007317	NP_015556	Q14807	KIF22_HUMAN	Homo sapiens kinesin family member 22 (KIF22), transcript variant 1, mRNA.	202	Kinesin-motor.				DNA repair|blood coagulation|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGAAGACTGCCGGGGGAATAT	0.547000														233			28		0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241031913	241031913	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241031913C>A	uc001hyt.2	-	1	133	c.79G>T	c.(79-81)Gcg>Tcg	p.A27S	RGS7_uc010pyh.2_Missense_Mutation_p.A169S|RGS7_uc010pyj.1_Missense_Mutation_p.A111S|RGS7_uc001hyu.2_Missense_Mutation_p.A195S|RGS7_uc009xgn.1_Missense_Mutation_p.A142S|RGS7_uc001hyv.2_Missense_Mutation_p.A195S|RGS7_uc001hyw.2_Missense_Mutation_p.A195S	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	195					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCAGAACGCTCTCTCTTGG	0.478000														148			25		9.86323e-18	1.1857e-17	1	1	0
KLHDC7B	113730	broad.mit.edu	37	22	50987929	50987929	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50987929C>A	uc003bmi.3	+	0	1468	c.1334C>A	c.(1333-1335)gCt>gAt	p.A445D		NM_138433	NP_612442	Q96G42	KLD7B_HUMAN	Homo sapiens kelch domain containing 7B (KLHDC7B), mRNA.	445										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCACGAGGCTGTGGCCTGC	0.662000														266			51		3.39706e-21	4.16481e-21	1	1	0
GPRC5C	55890	broad.mit.edu	37	17	72436648	72436648	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72436648G>A	uc002jkp.3	+	1	1379	c.868G>A	c.(868-870)Gtg>Atg	p.V290M	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.V257M|GPRC5C_uc002jkt.3_Missense_Mutation_p.V245M|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	245						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGGGGTCTTTGTGCTCCTCAC	0.607000														127			10		0	0	1	0	0
TBC1D22A	25771	broad.mit.edu	37	22	47569242	47569242	+	Silent	SNP	C	T	T	rs144230848	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:47569242C>T	uc003bib.3	+	12	1693	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	TBC1D22A_uc010haf.3_Silent_p.A479A|TBC1D22A_uc003bie.3_Silent_p.A431A|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Silent_p.A462A	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	509						intracellular	Rab GTPase activator activity|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TTGCTTTTGCCGACGCCCCCA	0.647000														299			41		0	0	1	0	0
PCM1	5108	broad.mit.edu	37	8	17869310	17869310	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17869310A>G	uc022asj.1	+	32	5624	c.5602A>G	c.(5602-5604)Act>Gct	p.T1868A	PCM1_uc003wyi.4_Missense_Mutation_p.T1829A|PCM1_uc011kyh.2_Missense_Mutation_p.T1821A|PCM1_uc003wyj.4_Missense_Mutation_p.T1775A|PCM1_uc011kyi.2_Missense_Mutation_p.T628A|PCM1_uc011kyj.2_Missense_Mutation_p.T585A|PCM1_uc003wyk.4_Missense_Mutation_p.T511A|PCM1_uc011kyk.2_Missense_Mutation_p.T445A	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1829					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.P1868P(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CACTGAAGCTACTGAAGAAAA	0.393000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									52			15		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100365518	100365518	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100365518G>A	uc003uwj.3	+	25	5090	c.4925G>A	c.(4924-4926)aGc>aAc	p.S1642N	ZAN_uc003uwk.3_Missense_Mutation_p.S1642N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S219N	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1642	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATAAGGCTCAGCAGCAACCTC	0.602000														87			23		0	0	1	0	0
RINL	126432	broad.mit.edu	37	19	39360243	39360243	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360243G>T	uc010xuo.2	-	9	1531	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	RINL_uc002ojq.3_Missense_Mutation_p.L368I|RINL_uc002ojr.1_Missense_Mutation_p.L3I	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	368							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						GGATCTAAGAGCTCCATAAGA	0.632000											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		163			31		3.73148e-12	4.28986e-12	1	1	0
RBCK1	10616	broad.mit.edu	37	20	390527	390527	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:390527G>T	uc002wdp.4	+	1	718	c.25G>T	c.(25-27)Gag>Tag	p.E9*	RBCK1_uc010zpl.1_Nonsense_Mutation_p.E9*|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Intron|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Intron|RBCK1_uc002wdo.3_Non-coding_Transcript	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	9	Interaction with IRF3.|Interaction with TAB2.				T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GCTTTCAGCAGAGGAAATGGC	0.577000														335			60		3.95532e-38	5.02375e-38	1	1	0
GUCY2F	2986	broad.mit.edu	37	X	108628419	108628419	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:108628419C>A	uc022cch.1	-	14	3134	c.3049G>T	c.(3049-3051)Ggc>Tgc	p.G1017C	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.G1017C	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	1017					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						TCACGTAAGCCTGTAGATTCC	0.493000														101			28		1.17739e-12	1.36172e-12	1	1	0
MLLT10	8028	broad.mit.edu	37	10	21962743	21962743	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21962743T>C	uc021pny.1	+	9	1516	c.1516T>C	c.(1516-1518)Tca>Cca	p.S506P	MLLT10_uc001iqs.3_Missense_Mutation_p.S506P|MLLT10_uc001iqv.3_Non-coding_Transcript|MLLT10_uc001iqt.3_Missense_Mutation_p.S506P|MLLT10_uc001ira.3_5'UTR|MLLT10_uc001irb.3_Non-coding_Transcript	NM_001195626	NP_001182555	P55197	AF10_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (MLLT10), transcript variant 3, mRNA.	506	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATCTGTAGCATCAGCTGCAGG	0.448000			T	"""MLL, PICALM, CDK6"""	AL									106			24		0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168363200C>T	uc021zik.1	+	29	5090	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C	MLLT4_uc003qwc.2_Missense_Mutation_p.R1632C|MLLT4_uc021zij.1_Missense_Mutation_p.R1617C|MLLT4_uc021zim.1_Missense_Mutation_p.R1191C|MLLT4_uc003qwg.1_Missense_Mutation_p.R943C|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1634					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547000			T	MLL	AL									254			61		0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84390190	84390190	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390190T>C	uc003hou.2	-	5	656	c.591A>G	c.(589-591)acA>acG	p.T197T	FAM175A_uc003hot.2_Silent_p.T25T|FAM175A_uc003hov.2_Silent_p.T88T	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	197					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTTACCTGTGTGTTTGTACTG	0.363000														144			47		0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29624906	29624906	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:29624906C>T	uc001rix.1	-	15	1685	c.1685G>A	c.(1684-1686)gGc>gAc	p.G562D		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	562					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TGGAGGGATGCCACAGACATC	0.478000														53			5		0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177547263	177547263	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547263G>T	uc003mik.1	+	2	662	c.415G>T	c.(415-417)Ggc>Tgc	p.G139C	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	139						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCCCACAAAGGCCAGAAGCT	0.677000														114			16		1.5739e-10	1.77479e-10	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	42045931	42045931	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42045931G>T	uc001cgz.4	-	3	5751	c.4538C>A	c.(4537-4539)cCt>cAt	p.P1513H	HIVEP3_uc001cha.4_Missense_Mutation_p.P1513H|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGGAGGGGAGGAATTTCCTT	0.557000														93			34		2.46105e-21	3.01812e-21	1	1	0
SIPA1L1	26037	broad.mit.edu	37	14	72165840	72165840	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:72165840G>A	uc001xms.3	+	10	3878	c.3517G>A	c.(3517-3519)Gaa>Aaa	p.E1173K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E1173K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E1173K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E1173K|SIPA1L1_uc010ttm.2_Missense_Mutation_p.E648K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1173					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTCCATGCCCGAAGGGTAGTT	0.483000														100			19		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81979814	81979814	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:81979814C>T	uc002fgt.3	+	30	3694	c.3516C>T	c.(3514-3516)agC>agT	p.S1172S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1172					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						ATGGGTACAGCGAGGACATAG	0.488000														158			48		0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816275	133816275	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133816275T>G	uc003ytt.3	+	6	1044	c.719T>G	c.(718-720)tTt>tGt	p.F240C	PHF20L1_uc003ytr.3_Missense_Mutation_p.F214C|PHF20L1_uc010mdv.3_Missense_Mutation_p.F214C|PHF20L1_uc003yts.3_Missense_Mutation_p.F240C|PHF20L1_uc011lja.2_Missense_Mutation_p.F214C|PHF20L1_uc003ytu.1_Non-coding_Transcript|PHF20L1_uc003ytv.3_Missense_Mutation_p.F79C	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	240							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGTGAAACATTTGGTACAAAA	0.353000														59			9		0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118580057	118580057	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118580057T>G	uc010jcl.1	+	42	8889	c.8708T>G	c.(8707-8709)tTt>tGt	p.F2903C	DMXL1_uc003ksd.2_Missense_Mutation_p.F2882C|DMXL1_uc021ycw.1_Missense_Mutation_p.F2709C|DMXL1_uc010jcm.1_Non-coding_Transcript|DMXL1_uc003kse.1_Missense_Mutation_p.F56C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2882										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTTTCAGCATTTACCTGCCAT	0.328000														38			15		0	0	1	0	0
NGRN	51335	broad.mit.edu	37	15	90809089	90809089	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90809089G>A	uc002bpf.1	+	0	195	c.145G>A	c.(145-147)Gag>Aag	p.E49K	TTLL13_uc002bpe.1_Intron|NGRN_uc002bpg.1_5'UTR	NM_001033088	NP_001028260	Q9NPE2	NGRN_HUMAN	Homo sapiens neugrin, neurite outgrowth associated (NGRN), transcript variant 2, mRNA.	49					neuron differentiation	extracellular region|nucleus				kidney(2)|large_intestine(4)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GGAGGAACGGGAGCTGCAGGA	0.751000														42			11		0	0	1	0	0
MRPL48	51642	broad.mit.edu	37	11	73571043	73571043	+	Nonsense_Mutation	SNP	C	T	T	rs137907774	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73571043C>T	uc001ouh.4	+	5	563	c.463C>T	c.(463-465)Cga>Tga	p.R155*	MRPL48_uc009ytt.3_Nonsense_Mutation_p.R56*|MRPL48_uc010rri.2_Nonsense_Mutation_p.R137*	NM_016055	NP_057139	Q96GC5	RM48_HUMAN	Homo sapiens mitochondrial ribosomal protein L48 (MRPL48), nuclear gene encoding mitochondrial protein, mRNA.	155					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			kidney(1)	1						CACCCATGAGCGAGTGGTTCA	0.438000														40			6		0	0	1	0	0
SPAG11B	10407	broad.mit.edu	37	8	7320352	7320352	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:7320352A>G	uc003wrl.3	-	1	258	c.91T>C	c.(91-93)Tca>Cca	p.S31P	SPAG11B_uc003wrg.1_Missense_Mutation_p.S31P|SPAG11B_uc003wrh.1_Missense_Mutation_p.S31P|SPAG11B_uc003wrk.3_Missense_Mutation_p.S31P|SPAG11B_uc003wrm.3_Missense_Mutation_p.S31P	NM_058201	NP_478108	Q08648	SG11B_HUMAN	Homo sapiens sperm associated antigen 11B (SPAG11B), transcript variant D, mRNA.	31					spermatogenesis	extracellular region		p.H30N(1)|p.S31*(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TCAGTGGCTGAGTGGTTCACA	0.587000														180			17		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76825452	76825452	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76825452G>A	uc009yup.3	+	5	976	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	CAPN5_uc001oxx.3_Missense_Mutation_p.R224Q|CAPN5_uc009yuq.3_Missense_Mutation_p.R260Q|CAPN5_uc001oxy.3_Missense_Mutation_p.R264Q	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	224	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	p.R263L(1)|p.R263C(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						GTGCACAGCCGGGGCGGCCTC	0.587000											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		389			69		0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140005399	140005399	+	Missense_Mutation	SNP	G	A	A	rs149094336	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140005399G>A	uc004clh.3	-	11	1306	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	426						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.R426Q(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		AGGTTCCTCCGAATCTGTGGT	0.652000														63			12		0	0	1	0	0
C7orf61	402573	broad.mit.edu	37	7	100060989	100060989	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100060989C>T	uc003uuz.1	-	1	630	c.384G>A	c.(382-384)tgG>tgA	p.W128*		NM_001004323	NP_001004323	Q8IZ16	CG061_HUMAN	Homo sapiens chromosome 7 open reading frame 61 (C7orf61), mRNA.	128										central_nervous_system(1)|endometrium(1)|prostate(1)|skin(1)	4						TGCTGACCTTCCAGCTGCACA	0.592000														144			35		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114134091	114134091	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114134091C>T	uc004bfe.1	-	43	5081	c.5081G>A	c.(5080-5082)cGa>cAa	p.R1694Q		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CAGGTATAATCGAATGCCACC	0.383000														112			27		0	0	1	0	0
MOGAT3	346606	broad.mit.edu	37	7	100842058	100842058	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100842058G>A	uc003uyc.3	-	3	509	c.342C>T	c.(340-342)caC>caT	p.H114H	MOGAT3_uc010lhr.3_Silent_p.H114H	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	114					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TCCCATGAGGGTGGGCGCCCA	0.602000														206			35		0	0	1	0	0
ZYG11B	79699	broad.mit.edu	37	1	53262444	53262444	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:53262444C>T	uc001cuj.3	+	7	1668	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Silent_p.L482L|ZYG11B_uc009vzh.3_5'UTR	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	491							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GTACTGAGCTCTTCATTGTCA	0.338000														62			16		0	0	1	0	0
MARK3	4140	broad.mit.edu	37	14	103969447	103969447	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:103969447G>T	uc001ymz.4	+	17	2811	c.2145G>T	c.(2143-2145)atG>atT	p.M715I	MARK3_uc001ymx.4_Missense_Mutation_p.M706I|MARK3_uc001ymw.4_Missense_Mutation_p.M691I|MARK3_uc001yna.4_Missense_Mutation_p.M675I|MARK3_uc001ymy.4_Missense_Mutation_p.M621I|MARK3_uc010awp.3_Missense_Mutation_p.M714I|MARK3_uc010tyb.2_Missense_Mutation_p.M510I|MARK3_uc010awq.3_Missense_Mutation_p.M288I|MARK3_uc001ynd.3_Missense_Mutation_p.M123I	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	715	KA1.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTGGGAAATGGAAGTGTGCA	0.527000														115			19		2.35188e-11	2.67805e-11	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113347602	113347602	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113347602T>C	uc003ynu.3	-	44	7280	c.7121A>G	c.(7120-7122)cAc>cGc	p.H2374R	CSMD3_uc003yns.3_Missense_Mutation_p.H1576R|CSMD3_uc003ynt.3_Missense_Mutation_p.H2334R|CSMD3_uc011lhx.2_Missense_Mutation_p.H2270R|CSMD3_uc003ynw.1_Missense_Mutation_p.H85R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2374	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAAATCACTGTGGAATTTGAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				46			8		0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124787488	124787488	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124787488G>A	uc003yqv.3	+	2	320	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FAM91A1_uc011lik.1_Missense_Mutation_p.V87M|FAM91A1_uc011lil.2_5'UTR	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	87										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GGATATTATGGTGAAAGGCTT	0.423000														123			17		0	0	1	0	0
LSMD1	84316	broad.mit.edu	37	17	7760629	7760629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7760629G>A	uc002gja.3	-	0	544	c.113C>T	c.(112-114)gCt>gTt	p.A38V	LSMD1_uc002giz.3_Intron|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	Homo sapiens LSM domain containing 1 (LSMD1), mRNA.	0						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GCTGCCGGGAGCTGCAGTTCC	0.682000														134			21		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	176005098	176005098	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176005098T>C	uc021yie.1	+	15	1848	c.1574_splice	c.e15+2	p.G525_splice	CDHR2_uc003mem.2_Splice_Site_p.G525_splice|CDHR2_uc003men.1_Splice_Site_p.G525_splice	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	525	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						AGGAAATGGGTAAGGGCTCAG	0.637000														62			10		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139090800	139090800	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139090800C>T	uc004cgz.3	-	3	694	c.575G>A	c.(574-576)cGc>cAc	p.R192H	LHX3_uc022bpm.1_Silent_p.A208A|LHX3_uc004cha.3_Missense_Mutation_p.R187H	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	187					inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GAGCTGCTCGCGCACGTGGCG	0.726000														38			10		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425926	179425926	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179425926G>A	uc021vsy.1	-	274	77454	c.77229C>T	c.(77227-77229)taC>taT	p.Y25743Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y19438Y|TTN_uc021vta.1_Silent_p.Y19371Y|TTN_uc021vtb.1_Silent_p.Y19246Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26670	Fibronectin type-III 87.						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)			TTACTTCAAAGTATGTTTCTT	0.428000														108			18		0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7976504	7976504	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7976504G>A	uc002gjy.1	-	13	2149	c.1888C>T	c.(1888-1890)Ctg>Ttg	p.L630L		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	630	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGAGCACCAGCAGCGTGATG	0.627000										Multiple Myeloma(8;0.094)				327			82		0	0	1	0	0
ZNF600	162966	broad.mit.edu	37	19	53270299	53270299	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53270299C>T	uc002qab.4	-	2	996	c.710G>A	c.(709-711)cGt>cAt	p.R237H	ZNF600_uc021uyz.1_Missense_Mutation_p.R237H	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTGAAGTCTACGATGGCATGT	0.408000														197			52		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046155	9046155	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9046155G>T	uc002mkp.3	-	4	35680	c.35476C>A	c.(35476-35478)Ctt>Att	p.L11826I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11828	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						CCAGTTACAAGTAGGGTGAAG	0.502000														79			26		5.45024e-15	6.43213e-15	1	1	0
C16orf71	146562	broad.mit.edu	37	16	4786573	4786573	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4786573A>C	uc002cxn.3	+	1	520	c.58A>C	c.(58-60)Atg>Ctg	p.M20L	ANKS3_uc002cxj.2_5'Flank|ANKS3_uc021tcj.1_5'Flank|ANKS3_uc021tck.1_5'Flank|ANKS3_uc002cxk.3_5'Flank|ANKS3_uc010uxs.2_5'Flank|ANKS3_uc002cxm.3_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	20										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GGCCTCCCAGATGGGGCCCTG	0.592000														137			37		0	0	1	0	0
UFSP2	55325	broad.mit.edu	37	4	186329507	186329507	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:186329507C>T	uc003ixo.2	-	7	1031	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	UFSP2_uc003ixq.2_Missense_Mutation_p.R195Q	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	305						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		CTGCAGAGATCGATAAGCACA	0.428000														129			12		0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57102123	57102123	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57102123C>T	uc001njt.3	-	3	322	c.55_splice	c.e3-1	p.N19_splice	SSRP1_uc010rjq.1_Splice_Site_p.N19_splice	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	19					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GACCATCATTCTGTAAGAAAA	0.502000														176			32		0	0	1	0	0
ZNF664	144348	broad.mit.edu	37	12	124497096	124497096	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124497096A>T	uc001ugb.3	+	4	1434	c.405A>T	c.(403-405)agA>agT	p.R135S	FAM101A_uc021rfy.1_Intron|ZNF664_uc001uga.3_Missense_Mutation_p.R135S|ZNF664_uc021rfz.1_Missense_Mutation_p.R135S	NM_152437	NP_689650	Q8N3J9	ZN664_HUMAN	Homo sapiens zinc finger protein 664 (ZNF664), transcript variant 1, mRNA.	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TGCATCAGAGAGTCCACACCG	0.468000														225			37		0	0	1	0	0
GALNT9	50614	broad.mit.edu	37	12	132681759	132681759	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132681759C>T	uc001ukc.4	-	10	1821	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K	GALNT9_uc009zyr.3_Missense_Mutation_p.E343K|GALNT9_uc001ukb.3_Missense_Mutation_p.E426K|GALNT9_uc001uka.3_Missense_Mutation_p.E203K	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	569	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		ATCTCCACCTCCAGGCAGCGG	0.622000														138			32		0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111782371	111782371	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:111782371G>T	uc010hqb.2	+	10	1240	c.1070_splice	c.e10-1	p.P357_splice	TMPRSS7_uc011bhr.1_Splice_Site_p.P212_splice	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	483	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GTTGCCCATAGCCTGCCCTGT	0.413000														224			47		2.64894e-19	3.21481e-19	1	1	0
OPRM1	4988	broad.mit.edu	37	6	154412127	154412127	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:154412127G>T	uc011efe.2	+	4	1486	c.963G>T	c.(961-963)tgG>tgT	p.W321C	OPRM1_uc011efd.2_Missense_Mutation_p.W128C|OPRM1_uc011efc.1_Missense_Mutation_p.W147C|OPRM1_uc003qpn.2_Missense_Mutation_p.W228C|OPRM1_uc003qpo.1_Missense_Mutation_p.W228C|OPRM1_uc011eff.1_Missense_Mutation_p.W228C|OPRM1_uc011efg.1_Missense_Mutation_p.W228C|OPRM1_uc011efi.2_Missense_Mutation_p.W228C|OPRM1_uc011efh.1_Missense_Mutation_p.W228C|OPRM1_uc003qpq.1_Missense_Mutation_p.W228C|OPRM1_uc003qpr.2_Missense_Mutation_p.W228C|OPRM1_uc003qpt.1_Missense_Mutation_p.W228C|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.W128C|OPRM1_uc003qpu.2_Missense_Mutation_p.W128C	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	228					behavior|negative regulation of cell proliferation|sensory perception	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATCCAACCTGGTACTGGGAAA	0.398000														177			40		6.5261e-18	7.85662e-18	1	1	0
FARP1	10160	broad.mit.edu	37	13	99061637	99061637	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:99061637C>T	uc001vnh.3	+	13	1699	c.1460C>T	c.(1459-1461)tCg>tTg	p.S487L	FARP1_uc001vnj.3_Missense_Mutation_p.S487L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	487					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCTGTGAACTCGCAGGGGGGA	0.542000														111			39		0	0	1	0	0
WDR3	10885	broad.mit.edu	37	1	118492397	118492397	+	Silent	SNP	A	G	G	rs111307478		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118492397A>G	uc010oxe.1	+	13	1614	c.1548A>G	c.(1546-1548)gcA>gcG	p.A516A	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	516						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAGGTGGTGCAGATAAATCTG	0.313000														42			7		0	0	1	0	0
KIAA0232	9778	broad.mit.edu	37	4	6865260	6865260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6865260G>A	uc003gjr.4	+	6	3614	c.3151G>A	c.(3151-3153)Gtt>Att	p.V1051I	KIAA0232_uc003gjq.4_Missense_Mutation_p.V1051I	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1051							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTTTCACAAGTTCTTCATGT	0.398000														102			29		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176450	57176450	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176450G>A	uc010ygn.2	-	1	344	c.117C>T	c.(115-117)gcC>gcT	p.A39A		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCAGGCCACGGCCTCTGGCT	0.602000														112			16		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111508079	111508079	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111508079C>T	uc003vfy.3	-	21	2510	c.2241G>A	c.(2239-2241)tcG>tcA	p.S747S	DOCK4_uc003vfw.3_Silent_p.S188S|DOCK4_uc003vfx.3_Silent_p.S747S|DOCK4_uc003vga.1_Silent_p.S352S	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	747					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TGCTCTCTTGCGAAAGAAAGA	0.423000														22			6		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128186478	128186478	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128186478C>T	uc002tol.3	+	8	1432	c.1405C>T	c.(1405-1407)Cac>Tac	p.H469Y	PROC_uc002tok.3_Missense_Mutation_p.H448Y|PROC_uc010yzi.2_Missense_Mutation_p.H504Y|PROC_uc010yzj.2_Missense_Mutation_p.H343Y|PROC_uc010yzk.2_Missense_Mutation_p.H503Y	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	448					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GATCCATGGGCACATCAGAGA	0.592000														242			79		0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136594899	136594899	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136594899G>A	uc004cep.4	-	5	1037	c.903C>T	c.(901-903)atC>atT	p.I301I	SARDH_uc004ceo.3_Silent_p.I301I|SARDH_uc011mdo.2_Silent_p.I133I|SARDH_uc011mdn.2_Silent_p.I301I	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	301					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GAATCCCCTCGATGCGCTCGG	0.632000														128			28		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100663468	100663468	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100663468C>A	uc003uxp.1	+	0	105	c.52C>A	c.(52-54)Ctc>Atc	p.L18I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	18						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)					GGTCCTCTCGCTCTTGCCCCC	0.662000														78			21		6.36457e-07	6.82071e-07	1	1	0
CUX2	23316	broad.mit.edu	37	12	111758478	111758478	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:111758478G>A	uc001tsa.2	+	16	2819	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	889						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y888Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CGAGCAGTACGAGCTGTACAT	0.682000														46			18		0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126741119	126741119	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126741119G>T	uc003ejg.3	+	20	4230	c.4230G>T	c.(4228-4230)caG>caT	p.Q1410H		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1410					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCTCAAGCAGCTGCTTTCCG	0.642000														86			10		0.00829132	0.00840732	1	1	0
HS3ST1	9957	broad.mit.edu	37	4	11400937	11400937	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:11400937G>A	uc003gmq.3	-	1	1016	c.693C>T	c.(691-693)gtC>gtT	p.V231V	HS3ST1_uc021xmg.1_Silent_p.V231V	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	231						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGAACCTCTCGACCTTTTGGA	0.567000														105			15		0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99893884	99893884	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:99893884A>G	uc003ppx.2	-	13	2297	c.1764T>C	c.(1762-1764)tgT>tgC	p.C588C	USP45_uc003ppv.2_Intron|USP45_uc003ppw.2_Silent_p.C268C	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN	Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.	588					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	p.L587V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CCTCTAAAAAACATAAATTAT	0.353000														60			18		0	0	1	0	0
CD48	962	broad.mit.edu	37	1	160654834	160654834	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160654834G>A	uc001fwo.1	-	1	260	c.228C>T	c.(226-228)taC>taT	p.Y76Y	CD48_uc001fwn.3_Silent_p.Y76Y|CD48_uc001fwp.3_Silent_p.Y76Y	NM_001778	NP_001769	P09326	CD48_HUMAN	Homo sapiens CD48 molecule (CD48), transcript variant 1, mRNA.	76	Ig-like C2-type 1.				blood coagulation|defense response|leukocyte migration	integral to plasma membrane|membrane raft	protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TGGATTCAAAGTACTTAGATT	0.423000														161			37		0	0	1	0	0
ZNHIT6	54680	broad.mit.edu	37	1	86167924	86167924	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:86167924C>T	uc001dlh.3	-	4	1084	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZNHIT6_uc010osc.2_Missense_Mutation_p.R273H	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	312					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCTCCGGGCACGATTTTTCAT	0.294000														34			5		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68117027	68117027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68117027G>A	uc003xxo.2	-	34	5237	c.4847C>T	c.(4846-4848)gCc>gTc	p.A1616V	ARFGEF1_uc003xxl.1_Missense_Mutation_p.A1070V|ARFGEF1_uc003xxm.2_Missense_Mutation_p.A19V|ARFGEF1_uc003xxn.2_Intron|ARFGEF1_uc003xxp.1_5'Flank	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1616					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			AATCAACAGGGCAGCAAACAA	0.373000														114			36		0	0	1	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208223	70208223	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:70208223C>T	uc001opo.3	+	19	2820	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	PPFIA1_uc001opn.2_Missense_Mutation_p.R869W|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	869					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	p.R869W(2)|p.R869R(2)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GGAGGAAGCCCGGAGACAAGG	0.478000														158			32		0	0	1	0	0
MIPOL1	145282	broad.mit.edu	37	14	38016120	38016120	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:38016120C>T	uc001wud.3	+	14	1915	c.1273C>T	c.(1273-1275)Ctg>Ttg	p.L425L	MIPOL1_uc010ams.3_Silent_p.L425L|MIPOL1_uc001wuc.3_Silent_p.L425L|MIPOL1_uc001wue.3_Silent_p.L394L|MIPOL1_uc010amt.3_Silent_p.L244L	NM_001195297	NP_001182226	Q8TD10	MIPO1_HUMAN	Homo sapiens mirror-image polydactyly 1 (MIPOL1), transcript variant 2, mRNA.	425										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GTTGGAAAGGCTGGTGGATGT	0.473000														46			11		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228354	142228354	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228354T>G	uc003ywd.1	-	3	1540	c.1232A>C	c.(1231-1233)cAg>cCg	p.Q411P	SLC45A4_uc003ywc.1_Missense_Mutation_p.Q411P|SLC45A4_uc010meq.1_Missense_Mutation_p.Q409P	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	462					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CTGCCGCTTCTGCATGTCGTA	0.687000														148			34		0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39038846	39038846	+	Missense_Mutation	SNP	C	T	T	rs139752425	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39038846C>T	uc002hvl.3	-	1	509	c.451G>A	c.(451-453)Gct>Act	p.A151T		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	151	Coil 1B.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCCTCAGCAGCCAGTTTAGCA	0.378000														98			16		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77064232	77064232	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:77064232T>G	uc002bby.3	-	8	1158	c.1099A>C	c.(1099-1101)Act>Cct	p.T367P	SCAPER_uc002bbx.3_Missense_Mutation_p.T121P|SCAPER_uc002bbz.1_Missense_Mutation_p.T232P|SCAPER_uc002bca.1_Missense_Mutation_p.T232P|SCAPER_uc002bcb.1_Missense_Mutation_p.T367P|SCAPER_uc002bcc.1_Missense_Mutation_p.T367P	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	366						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						ATTTCAGAAGTTCGAACATAA	0.363000														108			9		0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71208551	71208551	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71208551C>T	uc001oqn.3	+	18	1913	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	NADSYN1_uc001oqo.3_Missense_Mutation_p.A336V|NADSYN1_uc001oqp.3_Missense_Mutation_p.A225V	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	596	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGACATATGCGGAGCTCTCG	0.527000														87			9		0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19924048	19924048	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:19924048T>G	uc003cbl.4	-	11	2518	c.2322A>C	c.(2320-2322)aaA>aaC	p.K774N	EFHB_uc003cbm.3_Missense_Mutation_p.K644N	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	774					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						ATACCTCTTCTTTTGATCTGG	0.299000														29			4		0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079184	120079184	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120079184T>G	uc003icp.4	+	3	467	c.254T>G	c.(253-255)aTt>aGt	p.I85S		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	85							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CAGCACAGTATTGCTATGCAG	0.408000														140			23		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423624	47423624	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47423624C>T	uc002zhu.1	+	34	2886	c.2784C>T	c.(2782-2784)cgC>cgT	p.R928R	COL6A1_uc002zhv.1_Silent_p.R259R	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	928	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCTTCTACCGCGAGGCCTCGT	0.637000														80			26		0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1477814	1477814	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1477814G>T	uc003skj.4	-	11	2377	c.2230C>A	c.(2230-2232)Ctg>Atg	p.L744M	MICALL2_uc003ski.4_Missense_Mutation_p.L231M	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	744						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		ATGTCCTGCAGCTGCCTCTGT	0.731000														18			6		0.217242	0.217542	1	1	0
IGF2BP3	10643	broad.mit.edu	37	7	23391009	23391009	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391009G>A	uc003swg.3	-	5	864	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	200	KH 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GGAACCAGCAGGCGCAGAGGC	0.567000														113			25		0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17696546	17696546	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17696546C>T	uc002grm.3	+	2	753	c.284C>T	c.(283-285)cCg>cTg	p.P95L	RAI1_uc002grn.1_Missense_Mutation_p.P95L	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	95						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CAGGGGAGGCCGGCTTTCCCT	0.711000														75			11		0	0	1	0	0
TDP1	55775	broad.mit.edu	37	14	90485729	90485729	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:90485729C>T	uc001xxy.3	+	14	1910	c.1611C>T	c.(1609-1611)taC>taT	p.Y537Y	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.Y537Y|TDP1_uc010atn.3_Silent_p.Y537Y|TDP1_uc001xya.3_Silent_p.Y298Y|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_Silent_p.Y152Y	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	537					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		TCCGCTCCTACGAGCTCGGGG	0.527000								Repair of DNA-protein crosslinks						60			13		0	0	1	0	0
MAPK7	5598	broad.mit.edu	37	17	19286530	19286530	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19286530C>A	uc002gvn.3	+	6	2823	c.2437C>A	c.(2437-2439)Ctc>Atc	p.L813I	MAPK7_uc002gvo.3_Missense_Mutation_p.L674I|MAPK7_uc002gvq.3_Missense_Mutation_p.L813I|MAPK7_uc002gvp.3_Missense_Mutation_p.L813I|DM110819_uc010vyt.1_5'Flank	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	813					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.D812Y(1)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTGCCTGACCTCCAGGACCC	0.597000														110			21		6.44725e-10	7.21145e-10	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77323306	77323306	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:77323306G>A	uc002ffc.4	-	21	3824	c.3405C>T	c.(3403-3405)tgC>tgT	p.C1135C		NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	1135	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						AGGTGACTGTGCACTGCAGCA	0.532000														140			45		0	0	1	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169243	60169243	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:60169243C>T	uc001sqs.3	+	4	1466	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	SLC16A7_uc001sqt.3_Silent_p.G389G|SLC16A7_uc001squ.3_Silent_p.G389G|SLC16A7_uc009zqi.3_Silent_p.G290G|SLC16A7_uc010ssi.2_Silent_p.G290G	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	389						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	TTCTTCTTGGCCCTCCTCTTG	0.413000														127			18		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123586	66123586	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66123586G>T	uc002jgq.3	+	5		c.2709G>T								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		AAGGGTTTCAGCAAAGAGGAG	0.507000														34			6		0.0293803	0.0295844	1	1	0
MDN1	23195	broad.mit.edu	37	6	90406269	90406269	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90406269T>C	uc003pnn.1	-	59	9309	c.9193A>G	c.(9193-9195)Ata>Gta	p.I3065V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3065					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTAGAGAATATGGGTCTATTG	0.473000														75			16		0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35094941	35094941	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35094941T>C	uc002yta.1	+	3	438	c.170T>C	c.(169-171)gTt>gCt	p.V57A	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_5'UTR|ITSN1_uc002ysy.3_Missense_Mutation_p.V57A|ITSN1_uc002ysx.3_Missense_Mutation_p.V57A|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.V57A|ITSN1_uc010gmg.3_Missense_Mutation_p.V57A|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.V57A|ITSN1_uc010gmi.3_Missense_Mutation_p.V57A|ITSN1_uc002ytb.1_Missense_Mutation_p.V57A|ITSN1_uc002ytc.1_Missense_Mutation_p.V57A|ITSN1_uc010gmk.3_Missense_Mutation_p.V57A|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.V57A|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_5'UTR	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	57	EF-hand 1.|EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTCAACCTGTTTTAGCACAG	0.279000														21			6		0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135028024	135028024	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:135028024G>A	uc002ttw.4	+	1	454	c.309G>A	c.(307-309)aaG>aaA	p.K103K		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	103					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGGAGTCGAAGGTGGACAATC	0.413000														96			10		0	0	1	0	0
PRKCE	5581	broad.mit.edu	37	2	46234679	46234679	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:46234679C>T	uc002rut.3	+	8	1339	c.1142C>T	c.(1141-1143)tCt>tTt	p.S381F		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	381					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			GCAGCATCGTCTCCTGATGGC	0.542000														142			48		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1275968	1275968	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1275968C>T	uc001lta.3	+	34	15581	c.15522C>T	c.(15520-15522)aaC>aaT	p.N5174N		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5174	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAGCAAGAACGGCGTGCTTG	0.622000														80			13		0	0	1	0	0
GABRR3	200959	broad.mit.edu	37	3	97711701	97711701	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97711701C>A	uc021xbo.1	-	8		c.1216G>T				NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						TGTACCTTTCCTGTCTTCTTG	0.473000														225			52		6.81593e-30	8.57692e-30	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25462038	25462038	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25462038C>A	uc002rgc.3	-	19	2626	c.2369G>T	c.(2368-2370)aGg>aTg	p.R790M	DNMT3A_uc002rgd.3_Missense_Mutation_p.R790M|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.R601M	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	790					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R790S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAGCGGGCCCTGTGTGCAGC	0.562000			"""Mis, F, N, S"""		AML									56			14		2.61681e-11	2.97614e-11	1	1	0
TTF2	8458	broad.mit.edu	37	1	117618864	117618864	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117618864A>C	uc001egy.3	+	5	1358	c.1338A>C	c.(1336-1338)caA>caC	p.Q446H	TTF2_uc001egx.1_Missense_Mutation_p.Q446H	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	446					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TGATCAAACAAATCCAGGAGC	0.473000														55			10		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764246	82764246	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82764246C>A	uc003uhx.2	-	2	2909	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	PCLO_uc003uhv.2_Missense_Mutation_p.G874W	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	820	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTGGTGACCCTTTTGGCATT	0.517000														412			80		4.18771e-30	5.27058e-30	1	1	0
OR10H3	26532	broad.mit.edu	37	19	15852562	15852562	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15852562C>T	uc010xoq.2	+	0	360	c.360C>T	c.(358-360)ggC>ggT	p.G120G		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGTCATGGGCTATGATCACT	0.522000														336			72		0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38976720	38976720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:38976720C>T	uc002rqz.3	-	2	575	c.337G>A	c.(337-339)Gga>Aga	p.G113R	SRSF7_uc010ynp.2_Missense_Mutation_p.G113R|SRSF7_uc002rra.3_Non-coding_Transcript|GEMIN6_uc002rrb.3_5'Flank	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN	Homo sapiens serine/arginine-rich splicing factor 7 (SRSF7), transcript variant 1, mRNA.	113					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|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCATAATGTCCCTTTTCGCCA	0.418000														218			23		0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109815515	109815515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109815515C>T	uc001dxa.4	+	30	8265	c.8204C>T	c.(8203-8205)gCc>gTc	p.A2735V		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	2735					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCTCCTATGCCTCTACCCAC	0.607000														123			16		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122548	153122548	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153122548C>A	uc021ozu.1	-	0	39	c.39G>T	c.(37-39)caG>caT	p.Q13H	SPRR2G_uc009wod.2_Missense_Mutation_p.Q13H	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	13					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGAGGTGGCTGGCAGGGCT	0.562000														256			47		6.68952e-21	8.18755e-21	1	1	0
ITIH6	347365	broad.mit.edu	37	X	54785257	54785257	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54785257G>A	uc004dtj.2	-	7	1280	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	417	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GTGGCCTAGCGCCTGACGGAC	0.612000														64			21		0	0	1	0	0
CAMK1G	57172	broad.mit.edu	37	1	209783265	209783265	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209783265G>T	uc001hhd.3	+	8	920	c.818G>T	c.(817-819)aGt>aTt	p.S273I	CAMK1G_uc001hhf.4_Missense_Mutation_p.S273I|CAMK1G_uc001hhe.3_Missense_Mutation_p.S273I	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	273	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		AAGGCCTTGAGTCATCCCTGG	0.498000														85			14		0.00185496	0.00189487	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134161812	134161812	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134161812C>T	uc010quw.1	+	5	1073	c.878C>T	c.(877-879)gCg>gTg	p.A293V	LRRC27_uc001llf.2_Missense_Mutation_p.A293V|LRRC27_uc010quv.1_Missense_Mutation_p.A293V|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.A293V|LRRC27_uc001llj.2_Missense_Mutation_p.A231V|LRRC27_uc001llk.4_Missense_Mutation_p.A166V	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	293										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATCTCAAGGCGGCCTTGAAC	0.463000														162			46		0	0	1	0	0
ESRP2	80004	broad.mit.edu	37	16	68264366	68264366	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68264366C>T	uc010cfa.1	-	13	2208	c.2020G>A	c.(2020-2022)Gcc>Acc	p.A674T	ESRP2_uc002evp.1_Non-coding_Transcript|ESRP2_uc002evq.1_Missense_Mutation_p.A664T	NM_024939	NP_079215	Q9H6T0	ESRP2_HUMAN	Homo sapiens epithelial splicing regulatory protein 2 (ESRP2), mRNA.	674					RNA splicing|mRNA processing|regulation of RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CGGACCAAGGCTCCTGACTGG	0.632000														187			48		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29587277	29587277	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29587277G>A	uc001bru.3	+	6	1135	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	PTPRU_uc009vtq.3_Missense_Mutation_p.A336T|PTPRU_uc009vtr.3_Missense_Mutation_p.A336T|PTPRU_uc001brw.3_Missense_Mutation_p.A336T	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	336	Fibronectin type-III 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGAGGTGCACGCCGTCAGCCT	0.647000														169			12		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225890	133225890	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133225890A>G	uc001uks.1	-	31	4049	c.4005_splice	c.e31+1	p.Q1335_splice	POLE_uc001ukr.1_Splice_Site_p.Q139_splice|POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.Q1308_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1335					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CAAGGTCTATACCTGCACAAT	0.652000								DNA polymerases (catalytic subunits)						102			15		0	0	1	0	0
PHPT1	29085	broad.mit.edu	37	9	139743961	139743961	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139743961G>A	uc004cjq.4	+	0	706	c.79G>A	c.(79-81)Gtc>Atc	p.V27I	PHPT1_uc011mei.2_Missense_Mutation_p.V27I|MAMDC4_uc004cjs.3_5'Flank|MAMDC4_uc011mej.2_5'Flank	NM_014172	NP_054891	Q9NRX4	PHP14_HUMAN	Homo sapiens phosphohistidine phosphatase 1 (PHPT1), transcript variant 3, mRNA.	27				V -> I (in Ref. 4; CAB66579).		cytosol	phosphohistidine phosphatase activity|phosphoprotein phosphatase activity			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCTGATCCGAGTCCACTCGGC	0.647000														149			40		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573855	64573855	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64573855G>A	uc010qio.2	-	2	602	c.582C>T	c.(580-582)ctC>ctT	p.L194L	EGR2_uc010qim.2_Silent_p.L181L|EGR2_uc010qin.2_Silent_p.L131L|EGR2_uc001jmi.3_Silent_p.L181L|EGR2_uc009xph.3_Silent_p.L181L	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	181					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGTCCTGGTAGAGGTCTCCTG	0.627000														200			40		0	0	1	0	0
MLL3	58508	broad.mit.edu	37	7	151945554	151945554	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151945554G>A	uc003wla.3	-	13	2184	c.1965C>T	c.(1963-1965)gtC>gtT	p.V655V		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	655					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGTGTGTAACGACTTCAATGT	0.393000			N		medulloblastoma									78			12		0	0	1	0	0
SPACA1	81833	broad.mit.edu	37	6	88768475	88768475	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:88768475G>A	uc003pmn.3	+	3	526	c.409G>A	c.(409-411)Gca>Aca	p.A137T		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	137						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TGTTAGATTGGCATGTATTCA	0.333000														42			8		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104879584	104879584	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104879584G>T	uc010ruz.1	-	1	202	c.170C>A	c.(169-171)tCt>tAt	p.S57Y	CASP5_uc010rva.1_Missense_Mutation_p.S44Y|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	44	CARD.				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GGTCTGGATAGATGTTTGTCC	0.363000														76			14		1.5842e-08	1.73923e-08	1	1	0
MN1	4330	broad.mit.edu	37	22	28196327	28196327	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:28196327C>T	uc003adj.3	-	0	1160	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	69							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGTGGAAGCCGTAGGGCTCC	0.701000			T	ETV6	"""AML, meningioma"""									142			27		0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113509922	113509922	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113509922T>G	uc022blv.1	+	7	888	c.754_splice	c.e7-1	p.V252_splice	MUSK_uc022blt.1_Splice_Site_p.V252_splice|MUSK_uc004bez.2_Splice_Site_p.V262_splice|MUSK_uc022blu.1_Splice_Site_p.V252_splice	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	252	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CTCTGTCAGGTTTCTTCTGGG	0.403000														177			13		0	0	1	0	0
XKR5	389610	broad.mit.edu	37	8	6690240	6690240	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6690240G>A	uc022aqv.1	-	2	393	c.242_splice	c.e2+1	p.R81_splice	XKR5_uc003wqq.3_Splice_Site|LOC100652791_uc022aqw.1_5'Flank	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGTTCTTACCGCTTCCAAACA	0.527000														135			25		0	0	1	0	0
C8orf76	84933	broad.mit.edu	37	8	124243660	124243660	+	Missense_Mutation	SNP	C	T	T	rs138956285		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124243660C>T	uc003yqc.2	-	3	747	c.695G>A	c.(694-696)aGc>aAc	p.S232N	C8orf76_uc003yqd.3_Missense_Mutation_p.S200N	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	232							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTATTACTGCTATTCGCTTC	0.383000														101			30		0	0	1	0	0
LHFPL3	375612	broad.mit.edu	37	7	104377124	104377124	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:104377124G>A	uc003vce.3	+	1	572	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	LHFPL3_uc003vcf.3_Missense_Mutation_p.A150T	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	136						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TCTCCAAGCTGCCTGCCTTGT	0.398000														20			3		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140802413	140802413	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140802413A>G	uc003lkq.2	+	0	1877	c.1619A>G	c.(1618-1620)gAc>gGc	p.D540G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.D540G|PCDHGC5_uc003lkp.2_Missense_Mutation_p.D540G	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	541	Cadherin 5.				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)			GACAGCGGGGACCCGCCCCTC	0.562000														498			111		0	0	1	0	0
SLK	9748	broad.mit.edu	37	10	105779604	105779604	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105779604G>A	uc001kxo.1	+	15	3279	c.3245G>A	c.(3244-3246)cGa>cAa	p.R1082Q	SLK_uc001kxp.1_Missense_Mutation_p.R1051Q	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	1082					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GCCAAGACTCGAATGGCCATG	0.403000														162			42		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380798	28380798	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380798G>A	uc002het.3	+	9	2018	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	EFCAB5_uc010wbi.1_Missense_Mutation_p.R352H|EFCAB5_uc010wbj.2_Missense_Mutation_p.R553H|EFCAB5_uc010wbk.2_Missense_Mutation_p.R266H|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.R488H|EFCAB5_uc010csf.3_Missense_Mutation_p.R488H	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	609							calcium ion binding	p.R609C(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGGGTCACGCAGAGAGTCT	0.488000														193			34		0	0	1	0	0
RAB11A	8766	broad.mit.edu	37	15	66170283	66170283	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66170283A>T	uc002apk.3	+	2	547	c.420A>T	c.(418-420)agA>agT	p.R140S	RAB11A_uc010ujk.2_Missense_Mutation_p.R140S	NM_004663	NP_004654	P62491	RB11A_HUMAN	Homo sapiens RAB11A, member RAS oncogene family (RAB11A), transcript variant 1, mRNA.	140					cell cycle|cytokinesis|neuron projection development|plasma membrane to endosome transport|protein localization in plasma membrane|small GTPase mediated signal transduction|vesicle-mediated transport	cleavage furrow|plasma membrane|recycling endosome membrane|trans-Golgi network	GTP binding|GTPase activity|syntaxin binding			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						ATGAAGCAAGAGCTTTTGCAG	0.378000														157			25		0	0	1	0	0
ZNF354B	117608	broad.mit.edu	37	5	178310832	178310832	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178310832A>C	uc003mjl.3	+	4	1605	c.1379A>C	c.(1378-1380)cAt>cCt	p.H460P	ZNF354B_uc003mjm.3_Missense_Mutation_p.H460P	NM_058230	NP_478137	Q96LW1	Z354B_HUMAN	Homo sapiens zinc finger protein 354B (ZNF354B), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCGAATTCATACTGGAGAA	0.378000														105			42		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98212127	98212127	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98212127G>T	uc004avk.4	-	20	3733	c.3545C>A	c.(3544-3546)cCt>cAt	p.P1182H	PTCH1_uc010mrn.3_5'UTR|PTCH1_uc010mro.3_Missense_Mutation_p.P1031H|PTCH1_uc010mrp.3_Missense_Mutation_p.P1031H|PTCH1_uc010mrq.3_Missense_Mutation_p.P1031H|PTCH1_uc004avl.4_Missense_Mutation_p.P1031H|PTCH1_uc004avm.4_Missense_Mutation_p.P1181H|PTCH1_uc010mrr.3_Missense_Mutation_p.P1116H	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	1182					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTGACCTCAGGATATGGTCC	0.537000														72			18		1.33834e-09	1.48855e-09	1	1	0
THEMIS	387357	broad.mit.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:128134756G>A	uc011ebt.2	-	3	1179	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_uc010kfa.3_Missense_Mutation_p.R247W|THEMIS_uc021zfa.1_Missense_Mutation_p.R344W|THEMIS_uc010kfb.3_Missense_Mutation_p.R309W	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	344	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468000														163			41		0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36370598	36370598	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36370598A>C	uc003tfd.2	-	5	1448	c.1397T>G	c.(1396-1398)cTc>cGc	p.L466R	KIAA0895_uc003tfc.2_Missense_Mutation_p.L453R|KIAA0895_uc011kax.1_Missense_Mutation_p.L463R|KIAA0895_uc003tfb.2_Missense_Mutation_p.L415R|KIAA0895_uc011kaw.2_Missense_Mutation_p.L363R	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	466										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCTTCCCGAGAGCAGTCAG	0.463000														101			23		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140811102	140811102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140811102C>T	uc003lkt.2	+	0	945	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.T259M	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	259	Cadherin 3.				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)			GCCTTGGGCACGCAGCTGCTT	0.597000														178			40		0	0	1	0	0
RINL	126432	broad.mit.edu	37	19	39360267	39360267	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39360267G>T	uc010xuo.2	-	9	1507	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	RINL_uc002ojq.3_Missense_Mutation_p.L360M|RINL_uc002ojr.1_5'UTR	NM_001195833	NP_001182762	Q6ZS11	RINL_HUMAN	Homo sapiens Ras and Rab interactor-like (RINL), transcript variant 1, mRNA.	360							GTPase activator activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						TCTACGTCCAGCTGCGTGTCC	0.607000											OREG0025454	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		186			32		8.16721e-17	9.7615e-17	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31318444	31318444	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31318444C>A	uc021sia.1	-	25	3892	c.3578G>T	c.(3577-3579)aGg>aTg	p.R1193M	TRPM1_uc010azy.3_Missense_Mutation_p.R1061M|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1176M|TRPM1_uc001zfm.3_Missense_Mutation_p.R1154M	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1154					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGCAGCCTCTTTAGCTC	0.542000														60			16		6.31663e-08	6.86475e-08	1	1	0
PLCL1	5334	broad.mit.edu	37	2	198949647	198949647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:198949647G>A	uc010fsp.3	+	1	1804	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	PLCL1_uc002uuv.4_Missense_Mutation_p.R390Q	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	469	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R371Q(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTTTCCTTTCGAAGTGTCATA	0.403000														50			18		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228462512	228462512	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228462512G>A	uc009xez.1	+	19	5967	c.5923G>A	c.(5923-5925)Gcc>Acc	p.A1975T	OBSCN_uc001hsn.3_Missense_Mutation_p.A1975T|OBSCN_uc001hsp.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1975	Ig-like 19.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGAGGGCGCCTCATCCTC	0.657000														38			14		0	0	1	0	0
SALL2	6297	broad.mit.edu	37	14	21993139	21993139	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21993139G>T	uc001wbe.3	-	1	1005	c.723C>A	c.(721-723)ctC>ctA	p.L241L	SALL2_uc010tly.2_Silent_p.L239L|SALL2_uc010tlz.1_Intron|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Intron|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	241							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGGGGCTGAAGAGGGGTAGTA	0.602000														88			13		7.93312e-07	8.47869e-07	1	1	0
VPREB1	7441	broad.mit.edu	37	22	22599398	22599398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:22599398G>A	uc002zvx.1	+	1	113	c.87G>A	c.(85-87)atG>atA	p.M29I	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	29	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		CGCCGGCCATGTCCTCGGCCC	0.642000														123			34		0	0	1	0	0
FAM108B1	51104	broad.mit.edu	37	9	74489764	74489764	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:74489764C>T	uc004ail.3	-	1	835	c.233G>A	c.(232-234)aGa>aAa	p.R78K	FAM108B1_uc004aim.1_Missense_Mutation_p.R78K	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	78						extracellular region	hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						ACAAGCAATTCTGTTGCCTTT	0.398000														164			42		0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42824842	42824842	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42824842C>T	uc002ihf.3	+	11	1236	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	DBF4B_uc002ihe.3_Silent_p.S155S|DBF4B_uc010wjc.2_Silent_p.S341S	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	341					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CTCAGCTCAGCCACAGCTTTG	0.602000														83			22		0	0	1	0	0
GGCX	2677	broad.mit.edu	37	2	85780133	85780133	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:85780133G>A	uc002sps.3	-	8	1322	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	GGCX_uc010yss.2_Missense_Mutation_p.R245C|GGCX_uc010yst.2_Missense_Mutation_p.R349C	NM_000821	NP_000812	P38435	VKGC_HUMAN	Homo sapiens gamma-glutamyl carboxylase (GGCX), transcript variant 1, mRNA.	406					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	p.R406R(1)		endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TGGTGGGAGCGGGAGTGCACC	0.542000														222			44		0	0	1	0	0
GYLTL1B	120071	broad.mit.edu	37	11	45948141	45948141	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45948141C>A	uc001nbv.1	+	8	1268	c.1157C>A	c.(1156-1158)gCt>gAt	p.A386D	GYLTL1B_uc001nbw.1_Missense_Mutation_p.A355D|GYLTL1B_uc001nbx.1_Missense_Mutation_p.A386D	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	386					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCACCTGGTGCTGAGCAGGTG	0.592000														109			27		2.48779e-11	2.83162e-11	1	1	0
GTF2H4	2968	broad.mit.edu	37	6	30878524	30878524	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30878524G>A	uc003nsa.1	+	4	664	c.457G>A	c.(457-459)Gag>Aag	p.E153K	GTF2H4_uc010jsf.2_Missense_Mutation_p.E153K|GTF2H4_uc011dmv.1_Missense_Mutation_p.E97K	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	153					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAAGTACGCCGAGGAGCGATG	0.592000								Nucleotide excision repair (NER)						62			15		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	814759	814759	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:814759C>T	uc010krz.1	+	10	2219	c.2199C>T	c.(2197-2199)ggC>ggT	p.G733G	HEATR2_uc003siz.2_Silent_p.G601G|HEATR2_uc003sjb.2_Silent_p.G113G|HEATR2_uc003sjc.2_Silent_p.G158G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	733							protein binding	p.T731_S732insFLKT(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		AAACCTCGGGCGGCATGACGG	0.512000											OREG0017814|OREG0026740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		92			17		0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95189834	95189834	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95189834C>A	uc003ygh.2	-	3	391	c.266G>T	c.(265-267)aGa>aTa	p.R89I	CDH17_uc011lgo.1_Missense_Mutation_p.R89I|CDH17_uc011lgp.1_Missense_Mutation_p.R89I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	89	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTGAGTAGATCTTGTTTCCCT	0.463000														139			20		1.96292e-10	2.20843e-10	1	1	0
DKFZp666K117	0	broad.mit.edu	37	13	32527069	32527069	+	RNA	SNP	C	T	T	rs115313580	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32527069C>T	uc001utu.2	+	3		c.827C>T			DKFZp666K117_uc010tdv.2_Intron|DKFZp666K117_uc001utv.3_Non-coding_Transcript					Homo sapiens eukaryotic translation elongation factor 1 delta pseudogene 3 (EEF1DP3), non-coding RNA.																		GTCTCCCATGCGCCAAGTGGA	0.607000														96			16		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107423656	107423656	+	Silent	SNP	G	A	A	rs146803737		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107423656G>A	uc003ver.2	-	8	1324	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G	SLC26A3_uc003ves.2_Silent_p.G336G	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	371					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.D370H(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTACCTGATTGCCATCAAGTG	0.418000														121			33		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71398243	71398243	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71398243G>A	uc010dfm.3	-	18	2522	c.2522C>T	c.(2521-2523)aCc>aTc	p.T841I	SDK2_uc002jjt.4_5'UTR|SDK2_uc010dfn.2_Missense_Mutation_p.T520I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	841	Fibronectin type-III 3.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GGTCACCATGGTAACCTCCTC	0.587000														115			22		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86125099	86125099	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:86125099G>A	uc002blv.1	+	6	3970	c.3800G>A	c.(3799-3801)gGa>gAa	p.G1267E	AKAP13_uc002blt.1_Missense_Mutation_p.G1267E|AKAP13_uc002blu.1_Missense_Mutation_p.G1267E|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1267					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						AAGGCCGCTGGAGCACTGCTT	0.552000														87			16		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237249	56237249	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237249T>C	uc010rjk.2	-	0	766	c.725A>G	c.(724-726)cAt>cGt	p.H242R	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H242N(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)					AGCTGTCAGATGGGACCCACA	0.473000														81			16		0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23311685	23311685	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23311685C>T	uc001whc.3	+	3	681	c.447C>T	c.(445-447)cgC>cgT	p.R149R		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	149						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		AGGCGTTCCGCGTGTGGGAGA	0.607000														55			14		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318639	3318639	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3318639G>A	uc003ggw.3	+	1	1646	c.742G>A	c.(742-744)Gag>Aag	p.E248K	RGS12_uc003ggu.2_Missense_Mutation_p.E248K|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.E248K|RGS12_uc003ggx.1_Missense_Mutation_p.E248K	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	248	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTCCAACCTGGAGTCCGACAG	0.537000														177			10		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74648414	74648414	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:74648414G>A	uc001dfy.4	-	2	573	c.381C>T	c.(379-381)ctC>ctT	p.L127L	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	127										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CAAACATAGTGAGGGCAATGA	0.373000														83			10		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120348870	120348870	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120348870G>A	uc001pxl.2	+	36	3873	c.3538G>A	c.(3538-3540)Gat>Aat	p.D1180N	ARHGEF12_uc009zat.3_Missense_Mutation_p.D1161N|ARHGEF12_uc009zau.1_Missense_Mutation_p.D1077N	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1180					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GACAGACAGAGATTTGGGATT	0.363000			T	MLL	AML									54			9		0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30860251	30860251	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30860251G>A	uc003nrv.3	+	6	1073	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	DDR1_uc010jse.3_Missense_Mutation_p.R344H|DDR1_uc003nrq.3_Missense_Mutation_p.R344H|DDR1_uc003nrr.3_Missense_Mutation_p.R344H|DDR1_uc003nrs.3_Missense_Mutation_p.R344H|DDR1_uc003nrt.3_Missense_Mutation_p.R344H|DDR1_uc011dms.2_Missense_Mutation_p.R362H|DDR1_uc003nru.3_Missense_Mutation_p.R344H|DDR1_uc003nry.2_Missense_Mutation_p.R344H|DDR1_uc003nrx.2_Missense_Mutation_p.R344H|DDR1_uc003nrw.1_Missense_Mutation_p.R143H	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	344					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGTGTGGCTCGCTTTCTGCAG	0.647000														151			36		0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42702663	42702663	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42702663A>G	uc001zpn.1	+	19	2459	c.2153A>G	c.(2152-2154)cAc>cGc	p.H718R	CAPN3_uc001zpk.1_Missense_Mutation_p.H485R|CAPN3_uc001zpl.1_Missense_Mutation_p.H625R|CAPN3_uc010udf.1_Missense_Mutation_p.H631R|CAPN3_uc010udg.1_Missense_Mutation_p.H583R|CAPN3_uc001zpo.1_Missense_Mutation_p.H712R|CAPN3_uc001zpp.1_Missense_Mutation_p.H626R|CAPN3_uc001zpq.1_Missense_Mutation_p.H206R|CAPN3_uc010bcv.1_Missense_Mutation_p.H53R|CAPN3_uc001zpr.1_Missense_Mutation_p.H53R|CAPN3_uc001zps.1_Missense_Mutation_p.H53R|CAPN3_uc001zpt.1_Missense_Mutation_p.H53R	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	718	Domain IV.|EF-hand 2.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CAGGAGTTCCACCACCTCTGG	0.537000														139			42		0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56300721	56300721	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56300721G>T	uc010ygf.2	-	9	3269	c.2558C>A	c.(2557-2559)gCc>gAc	p.A853D	NLRP11_uc002qlz.3_Missense_Mutation_p.A700D|NLRP11_uc002qmb.3_Missense_Mutation_p.A754D|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AATAACTATGGCAATATATTG	0.408000														144			22		2.89027e-11	3.28353e-11	1	1	0
KIAA1143	57456	broad.mit.edu	37	3	44803019	44803019	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44803019C>T	uc011bac.2	-	0	155	c.76G>A	c.(76-78)Ggc>Agc	p.G26S	KIF15_uc003cnx.4_5'Flank|KIF15_uc010hiq.3_5'Flank	NM_020696	NP_065747	Q96AT1	K1143_HUMAN	Homo sapiens KIAA1143 (KIAA1143), mRNA.	26										NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582)		TCCCTGTAGCCGACCCGTTCC	0.592000														100			27		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94471006	94471006	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94471006T>G	uc001dqh.3	-	43	6242	c.6138A>C	c.(6136-6138)gaA>gaC	p.E2046D	ABCA4_uc001dqi.1_Missense_Mutation_p.E165D	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2046	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCTTTTCGATTTCTTCTGCTG	0.433000														119			35		0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926727	31926727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31926727G>A	uc002ecs.4	+	3	1366	c.1157G>A	c.(1156-1158)aGc>aAc	p.S386N		NM_003414	NP_003405	Q14586	ZN267_HUMAN	Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA.	386					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAAGCATGTAGCAAATCTTTT	0.363000														84			23		0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4164631	4164631	+	Silent	SNP	C	T	T	rs148841917	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4164631C>T	uc002cvx.3	-	1	1352	c.813G>A	c.(811-813)tcG>tcA	p.S271S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCTCCGGGCGAGGGGAAGC	0.617000														116			30		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79908284	79908284	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79908284T>C	uc004akr.3	+	31	3627	c.3367T>C	c.(3367-3369)Ttc>Ctc	p.F1123L	VPS13A_uc004akp.4_Missense_Mutation_p.F1123L|VPS13A_uc004akq.4_Missense_Mutation_p.F1123L|VPS13A_uc004aks.3_Missense_Mutation_p.F1084L|VPS13A_uc010mpo.1_5'UTR	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1123					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						AAAAGAAGTTTTCAGCTTCAA	0.303000														55			16		0	0	1	0	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216523	26216523	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26216523T>C	uc003ngz.2	-	0	350	c.349A>G	c.(349-351)Aag>Gag	p.K117E	HIST1H2AE_uc003nha.1_5'Flank	NM_003518	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bg (HIST1H2BG), mRNA.	117					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GTGACAGCCTTGGTACCTTCG	0.517000														255			58		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21031182	21031182	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21031182C>T	uc001bdr.4	-	4	999	c.881G>A	c.(880-882)cGg>cAg	p.R294Q	KIF17_uc001bds.4_Missense_Mutation_p.R294Q	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	294					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTGCAGCAGCCGCGTCAGCTT	0.627000														217			22		0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25970635	25970635	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:25970635C>T	uc002gzp.3	+	4	647	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	LGALS9_uc002gzq.3_Intron|LGALS9_uc002gzr.3_Intron|LGALS9_uc010waa.2_Missense_Mutation_p.R120C	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCCCAGGGGGCGCAGACAAAA	0.617000														75			15		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116968670	116968670	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116968670G>T	uc003pxf.2	-	7	1680	c.1420C>A	c.(1420-1422)Cca>Aca	p.P474T	ZUFSP_uc010kef.2_Missense_Mutation_p.P278T	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	474						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACTACCTTTGGACTCCCTTCT	0.338000														98			22		3.62473e-10	4.06567e-10	1	1	0
SZT2	23334	broad.mit.edu	37	1	43912779	43912779	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43912779C>T	uc001cjk.2	+	64	9139	c.6529C>T	c.(6529-6531)Cga>Tga	p.R2177*	SZT2_uc001cjl.2_Nonsense_Mutation_p.R165*	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	3076						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CACCTTTCTGCGACACTTCCT	0.582000														50			9		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220496996	220496996	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220496996C>T	uc002vmo.4	+	7	1263	c.1054C>T	c.(1054-1056)Ctg>Ttg	p.L352L	SLC4A3_uc002vmp.4_Silent_p.L325L|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	325					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTCGTGGAGCTGAACGAGCT	0.667000														107			20		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179701839	179701839	+	Silent	SNP	G	A	A	rs13031147		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179701839G>A	uc002une.2	-	22	4225	c.4107C>T	c.(4105-4107)ttC>ttT	p.F1369F	CCDC141_uc002unf.1_Silent_p.F848F	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	794							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGAGGCCCGAGAATGCATCAG	0.488000														61			21		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61958146	61958146	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61958146C>T	uc011aau.2	+	30	3599	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	COL20A1_uc011aav.2_Nonsense_Mutation_p.R988*	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1167	Collagen-like 2.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TAGTGGAGAGCGAGGACCTCC	0.617000														19			6		0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76895229	76895229	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76895229C>T	uc003hje.4	-	7	755	c.636_splice	c.e7+1	p.K212_splice	SDAD1_uc003hjf.4_Splice_Site_p.K115_splice|SDAD1_uc011cbr.2_Splice_Site_p.K175_splice	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	212					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AGGTGCTCACCTTGGTGACCT	0.428000														103			20		0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7404697	7404697	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7404697C>T	uc003mxn.3	+	9	1075	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	RIOK1_uc003mxo.3_Missense_Mutation_p.R60W	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ATCCAAGGCTCGGGAGTTGTA	0.408000														208			44		0	0	1	0	0
GAPVD1	26130	broad.mit.edu	37	9	128099865	128099865	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:128099865G>T	uc004bpp.3	+	15	3113	c.2953G>T	c.(2953-2955)Gga>Tga	p.G985*	GAPVD1_uc011lzs.1_Nonsense_Mutation_p.G958*|GAPVD1_uc004bpq.3_Nonsense_Mutation_p.G958*|GAPVD1_uc010mwx.3_Nonsense_Mutation_p.G958*|GAPVD1_uc004bpr.3_Nonsense_Mutation_p.G937*|GAPVD1_uc004bps.3_Nonsense_Mutation_p.G958*|GAPVD1_uc010mwy.1_Nonsense_Mutation_p.G791*	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	958					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTCCTCAAGAGGAGAGGTATG	0.443000														92			15		2.31682e-05	2.42268e-05	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140251094	140251094	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140251094G>A	uc011dae.2	+	0	3264	c.2406G>A	c.(2404-2406)caG>caA	p.Q802Q	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	NM_031861	NP_114067	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G802E(1)		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)			GTTTTCTACAGATTCCACCTA	0.408000														25			6		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31606506	31606506	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:31606506C>T	uc002wyj.3	+	8	927	c.733C>T	c.(733-735)Cca>Tca	p.P245S		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	245						extracellular region	lipid binding										TTTTGTGTTGCCAAGGCATGT	0.627000														306			67		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136087969	136087969	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136087969G>A	uc003era.1	-	23	2818	c.2526C>T	c.(2524-2526)gaC>gaT	p.D842D	STAG1_uc003erb.1_Silent_p.D842D|STAG1_uc003erc.1_Silent_p.D616D	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	842					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTTCTCCTCGTCTTGGTCAA	0.413000														71			7		0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043299	20043299	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20043299C>A	uc002dgu.1	-	1	982	c.820G>T	c.(820-822)Gcc>Tcc	p.A274S	GPR139_uc010vaw.1_Missense_Mutation_p.A181S	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	274						integral to membrane|plasma membrane		p.A274S(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCAGAAGGGCTAGCATGTTG	0.552000														173			49		1.63429e-32	2.06346e-32	1	1	0
GCM2	9247	broad.mit.edu	37	6	10874435	10874435	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:10874435C>T	uc003mzn.4	-	4	1386	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	438					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAGAGGCTGCCCTGGTGACTG	0.557000														93			19		0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425273	74425273	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74425273G>A	uc002axd.3	+	3	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_uc002axe.3_Missense_Mutation_p.A60T|ISLR2_uc010bjg.3_Missense_Mutation_p.A60T|ISLR2_uc010bjf.3_Missense_Mutation_p.A60T|ISLR2_uc021sqe.1_Missense_Mutation_p.A60T	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632000														215			55		0	0	1	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880791	53880791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53880791G>A	uc001sdn.2	-	1	656	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	MAP3K12_uc001sdm.2_Missense_Mutation_p.R96C	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	96	Protein kinase.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CAGACAGGGCGCAGGCAGCCA	0.602000														149			35		0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214813956	214813956	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214813956G>A	uc001hkm.3	+	11	2449	c.2275G>A	c.(2275-2277)Gaa>Aaa	p.E759K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	759					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTTGCATGCCGAATATGAGAG	0.428000														78			7		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851664	26851664	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26851664G>T	uc010crm.3	+	2	465	c.267G>T	c.(265-267)ggG>ggT	p.G89G	FOXN1_uc002hbj.3_Silent_p.G89G	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	89					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)					CCGGCCCTGGGCCCTTCAGGC	0.682000														138			33		8.88839e-20	1.08155e-19	1	1	0
OR2L8	391190	broad.mit.edu	37	1	248112729	248112729	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248112729C>T	uc001idt.1	+	0	570	c.570C>T	c.(568-570)gaC>gaT	p.D190D	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M189I(1)|p.M189K(1)|p.M189N(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTGCATGGACACCTGGGTCT	0.473000														77			13		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61541345	61541345	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61541345T>A	uc002ydr.2	-	3	1179	c.867A>T	c.(865-867)gaA>gaT	p.E289D	DIDO1_uc002yds.2_Missense_Mutation_p.E289D|DIDO1_uc002ydt.2_Missense_Mutation_p.E289D|DIDO1_uc002ydu.2_Missense_Mutation_p.E289D|DIDO1_uc002ydv.2_Missense_Mutation_p.E289D|DIDO1_uc002ydw.2_Missense_Mutation_p.E289D|DIDO1_uc002ydx.2_Missense_Mutation_p.E289D|DIDO1_uc011aao.1_Missense_Mutation_p.E289D	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	289					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAACCATTCTTCACAGCGGT	0.428000														99			28		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575713G>A	uc003xgz.1	+	2	2730	c.2137G>A	c.(2137-2139)Gtc>Atc	p.V713I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	713						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TGACATTGGCGTCCCCATCAT	0.463000														116			36		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559140	7559140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7559140C>T	uc010sge.2	-	4	1131	c.1105G>A	c.(1105-1107)Gtg>Atg	p.V369M	CD163L1_uc001qsy.3_Missense_Mutation_p.V359M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	359	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GAGCAGATCACAGACACATCG	0.403000														84			20		0	0	1	0	0
PPFIA4	8497	broad.mit.edu	37	1	203033018	203033018	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203033018G>A	uc009xaj.3	+	29	3312	c.3312G>A	c.(3310-3312)ggG>ggA	p.G1104G	PPFIA4_uc010pqf.2_Silent_p.G686G|PPFIA4_uc001gyz.3_Silent_p.G473G|PPFIA4_uc001gza.3_Silent_p.G464G|PPFIA4_uc001gzb.1_Silent_p.G159G|PPFIA4_uc001gzc.1_Silent_p.G15G			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	473					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCAGCCTGGGGCTCCCGCAGT	0.592000														137			28		0	0	1	0	0
PRAM1	84106	broad.mit.edu	37	19	8555100	8555100	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555100T>G	uc002mkd.3	-	9	2049	c.1986A>C	c.(1984-1986)gaA>gaC	p.E662D		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	710	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						GTGGTTGGTTTTCCAGGGGAT	0.687000														32			10		0	0	1	0	0
PSD4	23550	broad.mit.edu	37	2	113940351	113940351	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113940351C>A	uc002tjc.3	+	1	501	c.318C>A	c.(316-318)ccC>ccA	p.P106P	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.P105P|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	106					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGCTCCTCCCTGGGGCTCCG	0.637000														92			50		2.13384e-23	2.64232e-23	1	1	0
APOA1BP	128240	broad.mit.edu	37	1	156563698	156563698	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156563698C>T	uc001fph.3	+	5	728	c.689C>T	c.(688-690)gCt>gTt	p.A230V	APOA1BP_uc001fpi.3_Silent_p.C211C|APOA1BP_uc001fpk.3_Missense_Mutation_p.A127V|APOA1BP_uc010php.1_Missense_Mutation_p.A127V	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	230	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGAAATGCTGGAGGGATC	0.532000														245			71		0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56387922	56387922	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56387922T>C	uc002ivx.4	-	19	4521	c.3650A>G	c.(3649-3651)gAg>gGg	p.E1217G	BZRAP1_uc010dcs.3_Missense_Mutation_p.E1157G|BZRAP1_uc010wnt.2_Missense_Mutation_p.E1217G	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1217						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGCACATCTCGGTATTTGG	0.647000														166			29		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760572	176760572	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176760572A>G	uc001gkz.3	+	18	6138	c.4974A>G	c.(4972-4974)tcA>tcG	p.S1658S	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1658	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CACCCCCCTCAGAGCTGAATT	0.433000														105			24		0	0	1	0	0
PRKCD	5580	broad.mit.edu	37	3	53220652	53220652	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53220652C>T	uc003dgl.3	+	13	1646	c.1293C>T	c.(1291-1293)aaC>aaT	p.N431N	PRKCD_uc003dgm.3_Silent_p.N431N	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	431	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		AGTTCCTCAACGGGGGGGACC	0.607000														518			100		0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155254182	155254182	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155254182C>T	uc003inw.2	-	8	1681	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M	DCHS2_uc003inx.2_Missense_Mutation_p.V1060M	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	561	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGGATGCACGCCTTGGTCC	0.612000														145			38		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24383922	24383922	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24383922C>T	uc001bin.4	-	36	4409	c.4246G>A	c.(4246-4248)Gag>Aag	p.E1416K	MYOM3_uc001bil.4_Missense_Mutation_p.E309K|MYOM3_uc001bim.4_Missense_Mutation_p.E1073K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1416	Ig-like C2-type 4.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGCCCGTCTCGGAGCCATAC	0.567000														79			25		0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783606	54783606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:54783606C>T	uc004dtj.2	-	7	2931	c.2901G>A	c.(2899-2901)atG>atA	p.M967I		NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 6 (ITIH6), mRNA.	967	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										TGAGTAGGCTCATTGTTGGAA	0.587000														92			19		0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3435984	3435984	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3435984C>T	uc002fvr.2	-	7	1354	c.1032G>A	c.(1030-1032)ccG>ccA	p.P344P	TRPV3_uc002fvs.1_Non-coding_Transcript|TRPV3_uc010vrh.1_Silent_p.P328P|TRPV3_uc010vri.1_Silent_p.P299P|TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.P344P|TRPV3_uc010vrj.1_Silent_p.P328P|TRPV3_uc010vrm.1_Non-coding_Transcript|TRPV3_uc010vrl.1_Silent_p.P328P|TRPV3_uc002fvu.3_Silent_p.P344P|TRPV3_uc010vrn.1_5'Flank	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	344						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	CCAGCTGCAGCGGCGTGAGGC	0.632000														94			11		0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67574550	67574550	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67574550G>A	uc010vjp.2	+	9	990	c.804G>A	c.(802-804)gtG>gtA	p.V268V	FAM65A_uc010cei.2_Silent_p.V90V|FAM65A_uc002eth.3_Silent_p.V248V|FAM65A_uc010cej.3_Silent_p.V252V|FAM65A_uc002eti.2_Silent_p.V211V|FAM65A_uc010vjq.2_Silent_p.V262V|FAM65A_uc002etj.1_Silent_p.V247V|FAM65A_uc002etk.3_Silent_p.V247V	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	252						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GAAAGCAGGTGTGGGACAGTG	0.542000														199			43		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1394015	1394015	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1394015C>A	uc003boz.3	+	11	1639	c.1372C>A	c.(1372-1374)Ctc>Atc	p.L458I	CNTN6_uc011asj.2_Missense_Mutation_p.L386I|CNTN6_uc003bpa.3_Missense_Mutation_p.L458I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	458	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAATATTTCTCTTGGAGGA	0.323000														35			13		4.36969e-10	4.89342e-10	1	1	0
ZDHHC4	55146	broad.mit.edu	37	7	6628372	6628372	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6628372A>G	uc003sqi.3	+	8	1224	c.866A>G	c.(865-867)gAg>gGg	p.E289G	ZDHHC4_uc003sql.3_Missense_Mutation_p.E289G|ZDHHC4_uc003sqj.3_Missense_Mutation_p.E289G|ZDHHC4_uc003sqh.3_Missense_Mutation_p.E289G|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	289						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		ACTACTAACGAGTGGTACAGA	0.582000														256			13		0	0	1	0	0
PYROXD2	84795	broad.mit.edu	37	10	100152291	100152291	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:100152291G>A	uc001kpc.3	-	9	1046	c.960C>T	c.(958-960)ggC>ggT	p.G320G	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	320							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CTTGAACACAGCCTTCACTGT	0.532000														117			22		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150887020	150887020	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150887020C>T	uc003lue.4	-	21	12225	c.12212G>A	c.(12211-12213)cGc>cAc	p.R4071H	FAT2_uc003lud.4_Missense_Mutation_p.R678H	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	4071					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCAACGGCGGCAGTAGAA	0.577000														149			33		0	0	1	0	0
RECK	8434	broad.mit.edu	37	9	36118895	36118895	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36118895G>A	uc003zyv.3	+	17	2481	c.2395G>A	c.(2395-2397)Gtc>Atc	p.V799I	RECK_uc003zyw.3_Missense_Mutation_p.V671I|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	799						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCACAGCTCCGTCGCCGAGTG	0.602000														131			7		0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102394121	102394121	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:102394121G>T	uc001phb.3	-	4	672	c.625C>A	c.(625-627)Ctg>Atg	p.L209M		NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	209					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GCAGCATACAGGAAGTTAATC	0.343000														91			24		2.27525e-19	2.76268e-19	1	1	0
ATP2B3	492	broad.mit.edu	37	X	152811581	152811581	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152811581A>T	uc004fht.1	+	5	1078	c.952A>T	c.(952-954)Acc>Tcc	p.T318S	ATP2B3_uc004fhs.1_Missense_Mutation_p.T318S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	318					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGTAGCCAGACCAAAGGTAA	0.642000														71			20		0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91841173	91841173	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91841173T>C	uc001doa.4	-	11	1606	c.1507A>G	c.(1507-1509)Aac>Gac	p.N503D	HFM1_uc010osu.2_Missense_Mutation_p.N182D|HFM1_uc010osv.1_Missense_Mutation_p.N187D	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAGTTTGGTTACTACTGCAG	0.408000														109			35		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549187	44549187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549187G>A	uc021ujl.1	-	0	1348	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	371	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.T371M(2)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CTGATCGGGCGTCCACCCTTC	0.587000														609			29		0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113496220	113496220	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113496220G>A	uc001tuk.1	+	0	559	c.223G>A	c.(223-225)Gac>Aac	p.D75N		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	75	WWE 1.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CTACATCATCGACCTGCAGTC	0.637000														276			64		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126238257	126238257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126238257C>T	uc003ifj.4	+	0	691	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	231	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTAAGCGGCGGGGCTACCT	0.597000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			27		0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	169169	169169	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:169169G>A	uc002cfr.3	-	3	398	c.274C>T	c.(274-276)Cga>Tga	p.R92*	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Nonsense_Mutation_p.R14*|NPRL3_uc021szm.1_Nonsense_Mutation_p.R92*|NPRL3_uc021szn.1_Nonsense_Mutation_p.R92*|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	92							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCAACAAATCGCACATTATCA	0.478000														29			11		0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234603362	234603362	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:234603362A>G	uc001hwd.3	-	3	1134	c.1134T>C	c.(1132-1134)tgT>tgC	p.C378C		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	378					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTATAAATACACATATGCC	0.353000														44			12		0	0	1	0	0
KIAA1715	80856	broad.mit.edu	37	2	176844565	176844565	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176844565A>C	uc010fqw.1	-	4	487	c.487T>G	c.(487-489)Ttc>Gtc	p.F163V	KIAA1715_uc010zes.1_Missense_Mutation_p.F99V|KIAA1715_uc002ukd.1_5'UTR|KIAA1715_uc002ukc.1_Missense_Mutation_p.F97V|KIAA1715_uc010zer.1_Missense_Mutation_p.F97V|KIAA1715_uc010zet.1_Non-coding_Transcript			Q9C0E8	LNP_HUMAN	Homo sapiens KIAA1715 (KIAA1715), mRNA.	97						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TTGGAAAAGAAGAAAATAATT	0.274000														25			4		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40330471	40330471	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40330471T>C	uc002hzb.2	-	2	668	c.335A>G	c.(334-336)gAc>gGc	p.D112G		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	112	PAC.				regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGCATCATGTCCAGGAGGCA	0.562000														45			12		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144996821	144996821	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144996821C>A	uc003zaf.1	-	30	7857	c.7687G>T	c.(7687-7689)Gag>Tag	p.E2563*	PLEC_uc003zab.1_Nonsense_Mutation_p.E2426*|PLEC_uc003zac.1_Nonsense_Mutation_p.E2430*|PLEC_uc003zad.2_Nonsense_Mutation_p.E2426*|PLEC_uc003zae.1_Nonsense_Mutation_p.E2394*|PLEC_uc003zag.1_Nonsense_Mutation_p.E2404*|PLEC_uc003zah.2_Nonsense_Mutation_p.E2412*|PLEC_uc003zaj.2_Nonsense_Mutation_p.E2453*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2563	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GTCACCTTCTCCTGGGTGGCG	0.672000														66			13		4.3838e-07	4.70703e-07	1	1	0
NIPAL4	348938	broad.mit.edu	37	5	156890321	156890321	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156890321C>A	uc003lwx.4	+	1	559	c.443C>A	c.(442-444)gCc>gAc	p.A148D	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.A148D|NIPAL4_uc010jin.1_Missense_Mutation_p.P83T	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	148						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGACTCGTGGCCACGGGAGCC	0.597000														89			10		3.07112e-06	3.25591e-06	1	1	0
KANSL1	284058	broad.mit.edu	37	17	44172013	44172013	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:44172013G>T	uc002ikc.3	-	2	1815	c.1344C>A	c.(1342-1344)cgC>cgA	p.R448R	KANSL1_uc002ikd.3_Silent_p.R448R|KANSL1_uc010dav.3_Silent_p.R448R	NM_001193466	NP_056258	Q7Z3B3	K1267_HUMAN	Homo sapiens KIAA1267 (KIAA1267), transcript variant 1, mRNA.	448						MLL1 complex	protein binding										GCCAGTTCCAGCGGCTGACAA	0.438000														188			34		9.17885e-22	1.12858e-21	1	1	0
CLPTM1	1209	broad.mit.edu	37	19	45489787	45489787	+	Silent	SNP	C	T	T	rs11541460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45489787C>T	uc002pai.3	+	6	801	c.747C>T	c.(745-747)gaC>gaT	p.D249D	CLPTM1_uc010ejv.1_Silent_p.D147D|CLPTM1_uc010xxf.2_Silent_p.D147D|CLPTM1_uc010xxg.2_Silent_p.D235D	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	249					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGTGGACGACCACACGCCGT	0.622000														134			29		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19458130	19458130	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19458130C>T	uc002nmk.4	+	12	1302	c.1263C>T	c.(1261-1263)aaC>aaT	p.N421N	MAU2_uc002nml.4_Silent_p.N27N|MAU2_uc010ecd.3_Silent_p.N27N|MAU2_uc010ece.3_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	421					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCGTCACCAACCTGGCGAGTG	0.542000														104			21		0	0	1	0	0
RAB7L1	8934	broad.mit.edu	37	1	205739556	205739556	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205739556T>G	uc001hdf.4	-	5	866	c.526A>C	c.(526-528)Aat>Cat	p.N176H	RAB7L1_uc009xbp.3_Missense_Mutation_p.N104H|RAB7L1_uc001hde.4_Missense_Mutation_p.N176H|RAB7L1_uc010prr.2_Missense_Mutation_p.N152H|RAB7L1_uc009xbq.3_Non-coding_Transcript	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	176					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCTGTGGAATTTCTCATCATC	0.408000														73			8		0	0	1	0	0
ZNF525	170958	broad.mit.edu	37	19	53884351	53884351	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53884351G>A	uc010eqn.3	+	3	604	c.411G>A	c.(409-411)tcG>tcA	p.S137S	ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron					Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA.											endometrium(3)|kidney(3)|lung(3)	9						ATGCTTCCTCGGTTTCAACAG	0.373000														155			10		0	0	1	0	0
CHST5	23563	broad.mit.edu	37	16	75563625	75563625	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:75563625C>T	uc002fej.1	-	4	997	c.676G>A	c.(676-678)Gtg>Atg	p.V226M	CHST5_uc002fei.3_Missense_Mutation_p.V220M|CHST5_uc021tlk.1_Missense_Mutation_p.V220M	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	220					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	p.D225Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ACCAGGTGCACGATGCGCAGG	0.697000														328			64		0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232036	58232036	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232036T>G	uc002qpz.4	-	3	1517	c.1418A>C	c.(1417-1419)cAc>cCc	p.H473P	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.H396P|ZNF671_uc010yhf.2_Missense_Mutation_p.H375P	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTCCAGAGTGAACTTTCTG	0.473000														169			46		0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678117	25678117	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25678117G>A	uc003grr.3	+	12	1900	c.1819G>A	c.(1819-1821)Gtc>Atc	p.V607I	SLC34A2_uc003grs.3_Missense_Mutation_p.V606I|SLC34A2_uc010iev.3_Missense_Mutation_p.V606I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	607					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGATGCCGTCGTCTCCAAGTT	0.647000			T	ROS1	NSCLC									167			38		0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123847863	123847863	+	Missense_Mutation	SNP	C	T	T	rs141270826		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123847863C>T	uc001pzm.1	-	0	536	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552000														128			22		0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101342042	101342042	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:101342042G>A	uc001pgk.4	-	8	2706	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	TRPC6_uc009ywy.3_Missense_Mutation_p.P645S|TRPC6_uc009ywz.1_Missense_Mutation_p.P706S	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	761					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGGGTACAGGAAGTGTTCTG	0.438000														133			28		0	0	1	0	0
SHPK	23729	broad.mit.edu	37	17	3514153	3514153	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3514153C>T	uc002fvz.1	-	6	1241	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	TRPV1_uc010vru.2_5'Flank	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	380					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GCCAGCTGGTCCGGCAGGTGC	0.602000														199			45		0	0	1	0	0
C3orf38	285237	broad.mit.edu	37	3	88205397	88205397	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:88205397G>A	uc003dqw.3	+	2	912	c.602G>A	c.(601-603)cGt>cAt	p.R201H		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	201					apoptosis					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		GTGAGCCTTCGTTTGCTGTCA	0.423000														134			40		0	0	1	0	0
GRK6	2870	broad.mit.edu	37	5	176867757	176867757	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176867757G>A	uc021yit.1	+	13	1621	c.1461G>A	c.(1459-1461)aaG>aaA	p.K487K	GRK6_uc003mgq.2_Silent_p.K487K|GRK6_uc021yiu.1_Silent_p.K487K|GRK6_uc003mgs.1_Silent_p.K457K|LOC340037_uc021yiv.1_Intron|LOC340037_uc003mgt.3_Intron	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	487	AGC-kinase C-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	p.V486V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACGGTCAAGGGCGTGGAGC	0.587000														145			50		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98373796	98373796	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98373796G>T	uc002syh.4	-	40	5647	c.5418C>A	c.(5416-5418)agC>agA	p.S1806R	TMEM131_uc002syg.3_Missense_Mutation_p.S186R	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1806	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ACCAAATGGAGCTGCTGAATG	0.602000														142			35		1.26612e-14	1.49017e-14	1	1	0
MACF1	23499	broad.mit.edu	37	1	39926355	39926355	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:39926355C>T	uc021olw.1	+	56	16741	c.16741C>T	c.(16741-16743)Cgt>Tgt	p.R5581C	MACF1_uc021ols.1_Missense_Mutation_p.R5076C|MACF1_uc021olt.1_Missense_Mutation_p.R5079C|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7037					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTATATGCGTTGGATGAA	0.398000														133			39		0	0	1	0	0
NOL11	25926	broad.mit.edu	37	17	65714073	65714073	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65714073C>A	uc002jgd.1	+	0	13	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	NOL11_uc010wql.1_5'UTR|NOL11_uc010deu.1_5'Flank	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	4						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AATGGCAGCGCTGGAGGAAGA	0.592000											OREG0024682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		90			7		0.00198382	0.00202356	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18588085	18588085	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:18588085C>A	uc002kte.3	-	13	2422	c.1481G>T	c.(1480-1482)aGa>aTa	p.R494I		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	494	Interaction with FHOD1.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking	Golgi membrane|centriole|cytosol	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCATTAATTCTATGCTGTAG	0.313000														37			8		0.0381472	0.038366	1	1	0
SH3RF3	344558	broad.mit.edu	37	2	109964294	109964294	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109964294C>T	uc010ywt.1	+	1	738	c.738C>T	c.(736-738)agC>agT	p.S246S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	246	SH3 1.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCCCAGCCAGCTATATCCAGT	0.562000														44			20		0	0	1	0	0
GALNT4	8693	broad.mit.edu	37	12	89815013	89815013	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:89815013G>A	uc001tbc.3	-	11	1721	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	GALNT4_uc001tba.3_Nonsense_Mutation_p.R410*|GALNT4_uc001tbb.3_Nonsense_Mutation_p.R322*|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Non-coding_Transcript	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						AAAGTCAGTCGCTGCTCCAAG	0.398000														28			3		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627315	133627315	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133627315T>G	uc003ytk.3	-	7	1017	c.943A>C	c.(943-945)Aag>Cag	p.K315Q	LRRC6_uc022bbp.1_Missense_Mutation_p.K315Q|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	315	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATGATCTGCTTTTCGTTATCT	0.313000														49			12		0	0	1	0	0
TECTB	6975	broad.mit.edu	37	10	114053586	114053586	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:114053586G>T	uc001kzr.1	+	4	574	c.574G>T	c.(574-576)Ggg>Tgg	p.G192W		NM_058222	NP_478129	Q96PL2	TECTB_HUMAN	Homo sapiens tectorin beta (TECTB), mRNA.	192	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGAAGCCAAAGGGTTAAGCAT	0.388000														66			17		1.00905e-13	1.17906e-13	1	1	0
ENOX2	10495	broad.mit.edu	37	X	129771328	129771328	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129771328G>T	uc004evw.3	-	11	1691	c.1273C>A	c.(1273-1275)Ctc>Atc	p.L425I	ENOX2_uc004evx.3_Missense_Mutation_p.L396I|ENOX2_uc004evy.3_Missense_Mutation_p.L396I|ENOX2_uc004evv.3_Missense_Mutation_p.L250I	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	425					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity	p.L425I(2)|p.L425L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TAGGCATCGAGCTGCCAACGG	0.428000														184			48		1.41504e-22	1.74518e-22	1	1	0
C10orf2	56652	broad.mit.edu	37	10	102749183	102749183	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:102749183C>T	uc001ksf.2	+	0	1891	c.1216C>T	c.(1216-1218)Cga>Tga	p.R406*	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Nonsense_Mutation_p.R406*|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	406	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAAGGGACATCGAAAGGGCGA	0.527000														127			23		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47979804	47979804	+	Missense_Mutation	SNP	C	T	T	rs145121666		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:47979804C>T	uc003tny.2	-	2	305	c.271G>A	c.(271-273)Gct>Act	p.A91T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	91					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TGCCTGGAAGCTGATGAGGAT	0.463000														107			17		0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500901	73500901	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73500901T>C	uc002joc.3	-	10	1734	c.1184A>G	c.(1183-1185)gAc>gGc	p.D395G	CASKIN2_uc010wsc.2_Missense_Mutation_p.D313G	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	395						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCTGGGCTGTCTGGGCTGAG	0.672000														73			19		0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173916387	173916387	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:173916387T>C	uc002uhv.4	+	30	3115	c.2928T>C	c.(2926-2928)gcT>gcC	p.A976A	RAPGEF4_uc002uhw.4_Silent_p.A832A	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	976	Ras-GEF.				G-protein coupled receptor protein signaling pathway|blood coagulation|energy reserve metabolic process|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity|cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CAGCTCAAGCTAATAAGAACC	0.373000														75			14		0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857630	101857630	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101857630G>T	uc022cbb.1	+	0	561	c.561G>T	c.(559-561)tgG>tgT	p.W187C	ARMCX5_uc004ejg.3_Missense_Mutation_p.W187C|ARMCX5_uc022caw.1_Missense_Mutation_p.W187C|ARMCX5_uc022cax.1_Missense_Mutation_p.W187C|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.W187C|ARMCX5_uc022cba.1_Missense_Mutation_p.W187C|ARMCX5_uc004ejh.3_Missense_Mutation_p.W187C	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	187							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCTGGTTCTGGCCTGAAGAAG	0.458000														151			50		3.21987e-24	3.99968e-24	1	1	0
SLC52A1	55065	broad.mit.edu	37	17	4937215	4937215	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4937215C>T	uc002gap.4	-	2	1282	c.569G>A	c.(568-570)cGt>cAt	p.R190H	SLC52A1_uc002gao.4_Missense_Mutation_p.R190H|SLC52A1_uc010ckw.3_Missense_Mutation_p.R68H|SLC52A1_uc010ckx.3_Missense_Mutation_p.R190H	NM_001104577	NP_060456	Q9NWF4	RFT_HUMAN	Homo sapiens G protein-coupled receptor 172B (GPR172B), transcript variant 1, mRNA.	190						integral to plasma membrane	receptor activity|riboflavin transporter activity										GGCAGGAAAACGCTCAGGGAA	0.637000														241			35		0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6927707	6927707	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6927707G>T	uc001qqv.2	+	8	1536	c.1278_splice	c.e8+1	p.R426_splice	CD4_uc010sfj.2_Splice_Site_p.R153_splice|CD4_uc009zfc.2_Splice_Site_p.R247_splice|CD4_uc010sfl.2_Splice_Site_p.R153_splice|CD4_uc010sfk.2_Splice_Site_p.R153_splice|CD4_uc010sfm.1_Splice_Site_p.R153_splice	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	426					T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway	T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane	MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CGGCACCGAAGGGTGAGTAAC	0.602000														99			20		6.33239e-15	7.46874e-15	1	1	0
SDR16C5	195814	broad.mit.edu	37	8	57228591	57228591	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:57228591A>C	uc010lyk.1	-	1	954	c.316T>G	c.(316-318)Tat>Gat	p.Y106D	SDR16C5_uc003xsy.1_Missense_Mutation_p.Y106D|SDR16C5_uc010lyl.1_Missense_Mutation_p.Y106D	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 16C, member 5 (SDR16C5), mRNA.	106					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GCTACTCTATACACTCCTTCC	0.453000														156			39		0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117185786	117185786	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117185786C>A	uc004biy.4	-	6	925	c.285G>T	c.(283-285)gaG>gaT	p.E95D	DFNB31_uc004bix.3_Missense_Mutation_p.E127D|DFNB31_uc004biz.4_Missense_Mutation_p.E478D|DFNB31_uc004bja.4_Missense_Mutation_p.E478D	NM_001083885	NP_001077354	Q9P202	WHRN_HUMAN	Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA.	478					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCCTCTCACCTCAGAGAGGA	0.627000														177			17		5.03518e-11	5.70985e-11	1	1	0
UBXN4	23190	broad.mit.edu	37	2	136533888	136533888	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136533888T>G	uc002tur.3	+	9	1331	c.1020T>G	c.(1018-1020)gcT>gcG	p.A340A	UBXN4_uc002tus.3_Silent_p.A106A|UBXN4_uc002tut.3_5'UTR	NM_014607	NP_055422	Q92575	UBXN4_HUMAN	Homo sapiens UBX domain protein 4 (UBXN4), mRNA.	340	UBX.				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CTTCTGATGCTCCTCTAGAAG	0.358000														46			21		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17373654	17373654	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17373654C>A	uc002nfs.1	-	3	462	c.349G>T	c.(349-351)Gat>Tat	p.D117Y	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.D53Y|USHBP1_uc010eam.1_Missense_Mutation_p.D45Y	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	117							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGAAACACATCGGGGGCCCCA	0.652000														201			72		2.92363e-43	3.72251e-43	1	1	0
ERCC4	2072	broad.mit.edu	37	16	14029521	14029521	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14029521G>A	uc002dce.2	+	7	1741	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M	ERCC4_uc010uyz.1_Missense_Mutation_p.V128M	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	578					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GCCAAGATACGTGGTTCTTTA	0.493000			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					125			32		0	0	1	0	0
P2RX5	5026	broad.mit.edu	37	17	3595050	3595050	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3595050T>C	uc002fwi.3	-	1	575	c.176A>G	c.(175-177)gAc>gGc	p.D59G	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.D23G|P2RX5_uc002fwk.3_Missense_Mutation_p.D59G|P2RX5_uc002fwj.3_Missense_Mutation_p.D59G|P2RX5_uc002fwl.3_Missense_Mutation_p.D59G|P2RX5_uc002fwm.2_Missense_Mutation_p.D59G	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	59					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CAGGGAGGTGTCGACGTCTTG	0.597000														301			52		0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127503679	127503679	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127503679G>A	uc001liw.4	-	2	301	c.168C>T	c.(166-168)taC>taT	p.Y56Y	UROS_uc001lix.4_Silent_p.Y56Y	NM_000375	NP_000366	P10746	HEM4_HUMAN	Homo sapiens uroporphyrinogen III synthase (UROS), mRNA.	56					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				TGAGTCCCCCGTAATCTTCAG	0.438000														63			7		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27803687	27803687	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27803687G>A	uc002rkz.4	+	0	4299	c.4248G>A	c.(4246-4248)acG>acA	p.T1416T	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1416										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ACAAGCTAACGCCAGCAGGCT	0.463000														210			22		0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45554055	45554055	+	Silent	SNP	G	A	A	rs138309260	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:45554055G>A	uc001uzp.2	-	3	669	c.627C>T	c.(625-627)caC>caT	p.H209H		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	209					RNA processing|box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|RNA binding|identical protein binding|protein binding, bridging|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CAATCTTCTCGTGTGCAGTAA	0.294000														42			7		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184072081	184072081	+	Missense_Mutation	SNP	G	A	A	rs145746859		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184072081G>A	uc003foi.3	-	14	1653	c.1529C>T	c.(1528-1530)gCg>gTg	p.A510V	CLCN2_uc003foh.3_Missense_Mutation_p.A34V|CLCN2_uc010hya.2_Missense_Mutation_p.A493V|CLCN2_uc011brl.2_Missense_Mutation_p.A510V|CLCN2_uc011brm.2_Missense_Mutation_p.A466V	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	510						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTCACCGCTCCTGCCAG	0.627000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			19		0	0	1	0	0
SLC9A3R2	9351	broad.mit.edu	37	16	2087936	2087936	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2087936C>T	uc002coi.3	+	6	1103	c.965C>T	c.(964-966)gCg>gTg	p.A322V	TCRBV20S1_uc021tak.1_Intron|SLC9A3R2_uc002coj.3_Missense_Mutation_p.A311V|SLC9A3R2_uc021tan.1_Missense_Mutation_p.A200V|SLC9A3R2_uc002cok.3_Missense_Mutation_p.A211V|SLC9A3R2_uc021tao.1_Missense_Mutation_p.A209V	NM_001130012	NP_001123484	Q15599	NHRF2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2 (SLC9A3R2), transcript variant 1, mRNA.	322					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						AACAAGCGCGCGCCACAGATG	0.642000														48			10		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8725208	8725208	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8725208G>A	uc002glq.1	-	17	2072	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	612					platelet activation	cytosol											CAGCCCAGTGGCCCGCAGGAA	0.587000														15			6		0	0	1	0	0
CDYL	9425	broad.mit.edu	37	6	4892303	4892303	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:4892303C>A	uc003mwi.3	+	3	674	c.543C>A	c.(541-543)ctC>ctA	p.L181L	CDYL_uc003mwj.3_Silent_p.L127L|CDYL_uc003mwk.3_Intron|CDYL_uc011dhx.2_5'UTR|CDYL_uc011dhy.2_5'UTR	NM_001143971	NP_001137443	Q9Y232	CDYL1_HUMAN	Homo sapiens chromodomain protein, Y-like (CDYL), transcript variant 5, mRNA.	181					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCCATCTCTCTCCAGCCGGA	0.537000														136			25		4.72057e-08	5.14176e-08	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140517233	140517233	+	Silent	SNP	C	T	T	rs150150212		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140517233C>T	uc003liq.3	+	0	2434	c.2217C>T	c.(2215-2217)agC>agT	p.S739S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	739					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGACGTGAGCGGCACCGGGA	0.642000														545			110		0	0	1	0	0
ATAD3C	219293	broad.mit.edu	37	1	1389854	1389854	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1389854C>A	uc001aft.2	+	3	1347	c.352C>A	c.(352-354)Ctt>Att	p.L118I		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	118							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CATCACGGTGCTTGAGGCGCT	0.667000														35			6		0.217242	0.217542	1	1	0
CD2	914	broad.mit.edu	37	1	117297122	117297122	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117297122T>G	uc001egu.4	+	0	37	c.8T>G	c.(7-9)tTt>tGt	p.F3C	CD2_uc010owz.1_Missense_Mutation_p.F3C|CD2_uc010oxa.1_Missense_Mutation_p.F3C	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	3					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGATGAGCTTTCCATGTAAA	0.438000														94			17		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169869852	169869852	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169869852A>G	uc002ueo.1	-	4	445	c.319T>C	c.(319-321)Tgt>Cgt	p.C107R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	107	ABC transmembrane type-1 1.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTATTCACACATGCTTTTCCT	0.393000														247			58		0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28844994	28844994	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28844994G>T	uc001urz.3	+	12	2101	c.1949G>T	c.(1948-1950)gGc>gTc	p.G650V	PAN3_uc010tdo.1_Missense_Mutation_p.G650V|PAN3_uc001ury.3_Missense_Mutation_p.G338V|PAN3_uc001urx.3_Missense_Mutation_p.G450V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	650	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTGATAACTGGCAAAACAAGG	0.363000														160			29		1.45844e-13	1.7027e-13	1	1	0
KRT1	3848	broad.mit.edu	37	12	53069496	53069496	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53069496A>G	uc001sau.1	-	7	1567	c.1508T>C	c.(1507-1509)gTg>gCg	p.V503A	KRT1_uc001sav.1_Missense_Mutation_p.V503A	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	503	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTACTTACACACACTCACGTT	0.498000														171			37		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179481862	179481862	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179481862C>A	uc003fkh.3	+	17	2246	c.2165C>A	c.(2164-2166)tCt>tAt	p.S722Y		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	722					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTGGTGCTTCTGGACTGGAT	0.502000														122			28		1.08312e-15	1.2841e-15	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155278477	155278477	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:155278477C>A	uc003inw.2	-	6	695	c.695_splice	c.e6-1	p.G232_splice	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	232	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctatagagtcctaattaggga	0.428000														77			20		1.96292e-10	2.20843e-10	1	1	0
LPP	4026	broad.mit.edu	37	3	188584050	188584050	+	Silent	SNP	C	T	T	rs138205223	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188584050C>T	uc003frs.2	+	8	1719	c.1473C>T	c.(1471-1473)acC>acT	p.T491T	LPP_uc011bsg.2_Silent_p.T344T|LPP_uc011bsi.2_Silent_p.T491T|LPP_uc011bsj.2_Silent_p.T328T	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	491	LIM zinc-binding 2.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	p.A490V(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TCCGAGCCACCGGGAAGGCCT	0.562000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									143			18		0	0	1	0	0
HDGF	3068	broad.mit.edu	37	1	156714810	156714810	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156714810G>T	uc001fpy.4	-	2	615	c.293C>A	c.(292-294)tCc>tAc	p.S98Y	HDGF_uc009wsd.3_Missense_Mutation_p.S66Y|HDGF_uc001fpz.4_Missense_Mutation_p.S91Y|HDGF_uc009wse.3_Missense_Mutation_p.S114Y|HDGF_uc010phr.2_Missense_Mutation_p.S114Y|HDGF_uc009wsf.3_Missense_Mutation_p.S66Y	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	98					cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding	p.S98S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CTGATAGCCGGAAGCCTTGAC	0.587000														192			56		2.82306e-37	3.5823e-37	1	1	0
WBP11	51729	broad.mit.edu	37	12	14947480	14947480	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14947480G>T	uc001rci.3	-	6	873	c.712C>A	c.(712-714)Cct>Act	p.P238T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	238					RNA splicing|mRNA processing|rRNA processing	cytoplasm	WW domain binding|single-stranded DNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CCAAGTTCAGGACTATATAAC	0.428000														463			22		2.98393e-07	3.21458e-07	1	1	0
SCARA3	51435	broad.mit.edu	37	8	27514340	27514340	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27514340A>G	uc003xga.1	+	3	409	c.268A>G	c.(268-270)Acc>Gcc	p.T90A	SCARA3_uc003xgb.1_Missense_Mutation_p.T90A	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	90					UV protection|response to oxidative stress	Golgi membrane|collagen|endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CATCTCCTTGACCCAGTCTAT	0.468000														147			23		0	0	1	0	0
GRPR	2925	broad.mit.edu	37	X	16168591	16168591	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:16168591T>G	uc004cxj.3	+	1	1230	c.577T>G	c.(577-579)Ttc>Gtc	p.F193V		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	193					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.T192T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CAACCAGACCTTCATTAGCTG	0.498000														170			56		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152276040	152276040	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152276040G>A	uc001ezu.1	-	2	11358	c.11322C>T	c.(11320-11322)caC>caT	p.H3774H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3774	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.H3774H(4)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTAGGATC	0.592000									Ichthyosis					873			84		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515588	140515588	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140515588A>G	uc003liq.3	+	0	789	c.572A>G	c.(571-573)tAc>tGc	p.Y191C		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	191	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCAGAAAATACCCAGAGCTG	0.552000														180			52		0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39228903	39228903	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39228903C>T	uc003cjk.2	-	1	2263	c.2034G>A	c.(2032-2034)cgG>cgA	p.R678R	XIRP1_uc003cji.3_Silent_p.R678R|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.R678R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	678							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ATCTCACAGGCCGTCTTCCAC	0.592000														118			29		0	0	1	0	0
ALDH9A1	223	broad.mit.edu	37	1	165634286	165634286	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165634286C>A	uc001gdh.1	-	9	1536	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALDH9A1_uc010pky.1_Silent_p.V383V|ALDH9A1_uc010pkz.1_Silent_p.V467V	NM_000696	NP_000687	P49189	AL9A1_HUMAN	Homo sapiens aldehyde dehydrogenase 9 family, member A1 (ALDH9A1), mRNA.	453					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	AGGGCAACTCCACTGGGCTGA	0.458000														85			19		1.56452e-12	1.80666e-12	1	1	0
GRAP	10750	broad.mit.edu	37	17	18925281	18925281	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18925281C>T	uc002guy.3	-	4	742	c.645G>A	c.(643-645)gtG>gtA	p.V215V		NM_006613	NP_006604	Q13588	GRAP_HUMAN	Homo sapiens GRB2-related adaptor protein (GRAP), mRNA.	215	SH3 2.				Ras protein signal transduction|cell-cell signaling	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					CTCACAGGTGCACGGGCTGCA	0.652000														45			8		0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51693790	51693790	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51693790G>T	uc002aba.3	+	9	1197	c.1028_splice	c.e9-1	p.G343_splice	GLDN_uc002abb.3_Splice_Site_p.G219_splice	NM_181789	NP_861454	Q6ZMI3	GLDN_HUMAN	Homo sapiens gliomedin (GLDN), mRNA.	343	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCTCCTACAGGCATCATGGTT	0.507000											OREG0023125	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		162			16		4.7546e-09	5.25358e-09	1	1	0
DHX40	79665	broad.mit.edu	37	17	57651186	57651186	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:57651186C>T	uc002ixn.2	+	4	779	c.632C>T	c.(631-633)gCa>gTa	p.A211V	DHX40_uc010woe.2_Missense_Mutation_p.A134V|DHX40_uc002ixo.1_Missense_Mutation_p.A112V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	211	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTAATGTCAGCAACTATGGAA	0.358000														55			11		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746544	196746544	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746544C>T	uc002utj.4	-	35	6037	c.5936G>A	c.(5935-5937)gGa>gAa	p.G1979E		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1979	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTCCCAGTTCCTGTTGGTCC	0.368000														155			20		0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19969241	19969241	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19969241G>A	uc002zqz.3	-	4	659	c.389C>T	c.(388-390)aCg>aTg	p.T130M	ARVCF_uc002zqy.3_5'Flank	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	130					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					AGTGGTCACCGTCTTGACAGT	0.612000														142			32		0	0	1	0	0
SOBP	55084	broad.mit.edu	37	6	107956367	107956367	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:107956367G>T	uc003prx.3	+	5	2823	c.2319G>T	c.(2317-2319)gaG>gaT	p.E773D		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	Homo sapiens sine oculis binding protein homolog (Drosophila) (SOBP), mRNA.	773							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CGGTCAAGGAGAATAACTGTG	0.687000														169			9		1.76689e-08	1.93511e-08	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118984415	118984415	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984415C>T	uc001pvn.3	+	10	1841	c.1482C>T	c.(1480-1482)agC>agT	p.S494S	C2CD2L_uc001pvo.3_Silent_p.S494S	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	494						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCCCATAGCAGCAGCCGTG	0.597000														140			26		0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766779	3766779	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3766779C>T	uc002wjk.3	-	0	559	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	CDC25B_uc010zqk.2_5'Flank|CDC25B_uc010zql.2_5'Flank|CDC25B_uc010zqm.2_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	Homo sapiens centromere protein B, 80kDa (CENPB), mRNA.	118	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCGTTGGAGGCGGTGAAGTCG	0.731000														194			43		0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16766233	16766233	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:16766233A>G	uc003jft.4	-	10	1603	c.1135T>C	c.(1135-1137)Ttc>Ctc	p.F379L	MYO10_uc010itx.3_Missense_Mutation_p.F2L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	379	Myosin head-like.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CCCCTGAGGAACATTGATCTC	0.488000														55			15		0	0	1	0	0
BICC1	80114	broad.mit.edu	37	10	60588555	60588555	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60588555G>A	uc001jki.1	+	20	2829	c.2829G>A	c.(2827-2829)tcG>tcA	p.S943S		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	943			S -> P (in dbSNP:rs4948550).		multicellular organismal development		RNA binding	p.S943S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTTTTGAATCGCCAAATGCAC	0.468000														97			5		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425501	49425501	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49425501C>A	uc001rta.4	-	38	12987	c.12987G>T	c.(12985-12987)caG>caT	p.Q4329H		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4329	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGTGGGAAGCTGGGAGCTGG	0.622000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				39			5		0.000602214	0.000618135	1	1	0
DOPEY1	23033	broad.mit.edu	37	6	83877656	83877656	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83877656G>A	uc011dyy.2	+	39	7461	c.7201G>A	c.(7201-7203)Gtg>Atg	p.V2401M	PGM3_uc003pju.2_3'UTR|PGM3_uc003pjw.3_3'UTR|PGM3_uc011dyz.2_3'UTR|PGM3_uc021zcd.1_Intron|DOPEY1_uc003pjs.1_Missense_Mutation_p.V2390M|DOPEY1_uc010kbl.1_Missense_Mutation_p.V2381M|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2390					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CATCTGCACCGTGCGCAGTAT	0.512000														69			20		0	0	1	0	0
KLHDC1	122773	broad.mit.edu	37	14	50218425	50218425	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50218425C>T	uc001www.3	+	12	1246	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Nonsense_Mutation_p.R341*|KLHDC1_uc010tqh.2_Nonsense_Mutation_p.R301*	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	386						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGCTAATCACCGAGAAGAACA	0.284000														36			5		0	0	1	0	0
GYS1	2997	broad.mit.edu	37	19	49473039	49473039	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49473039G>A	uc002plp.3	-	14	2124	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V	GYS1_uc010emm.3_Missense_Mutation_p.A564V|GYS1_uc010xzz.2_Missense_Mutation_p.A548V	NM_002103	NP_002094	P13807	GYS1_HUMAN	Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA.	628					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CACCGCATCCGCCTCGTTGGG	0.612000														117			23		0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159456924	159456924	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159456924G>A	uc003qrz.3	-	9	2463	c.2131C>T	c.(2131-2133)Cga>Tga	p.R711*	TAGAP_uc011eft.2_Nonsense_Mutation_p.R648*|TAGAP_uc003qsa.3_Nonsense_Mutation_p.R533*	NM_054114	NP_687034	Q8N103	TAGAP_HUMAN	Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA.	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	p.R711*(2)|p.V710M(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTACATCGTCGCACGAGACAG	0.572000														108			31		0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811866	25811866	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25811866C>A	uc003nfh.4	-	9	1146	c.1030_splice	c.e9+1	p.G344_splice	SLC17A1_uc011djy.2_Splice_Site|SLC17A1_uc010jqb.1_Splice_Site_p.G344_splice|SLC17A1_uc010jqc.1_Splice_Site_p.G288_splice	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	344					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TGTTGCTTACCTGCTGCTGTG	0.468000														91			16		8.60227e-14	1.00624e-13	1	1	0
PRIC285	85441	broad.mit.edu	37	20	62194310	62194310	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62194310G>A	uc002yfm.2	-	8	6757	c.5865C>T	c.(5863-5865)acC>acT	p.T1955T	PRIC285_uc002yfl.1_Silent_p.T1386T	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1955					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CAACCGCGCCGGTGGCCGACT	0.687000														23			7		0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79739023	79739023	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79739023C>T	uc003kgr.4	+	5	2803	c.2501C>T	c.(2500-2502)cCt>cTt	p.P834L	ZFYVE16_uc003kgp.3_Missense_Mutation_p.P834L|ZFYVE16_uc003kgq.4_Missense_Mutation_p.P834L|ZFYVE16_uc003kgs.4_Missense_Mutation_p.P834L|ZFYVE16_uc003kgt.4_Missense_Mutation_p.L8F	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	834					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTGTCCAGCCTCCTCAGGAG	0.408000														105			11		0	0	1	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160741799	160741799	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160741799G>A	uc002ubb.4	-	5	993	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	LY75-CD302_uc010fos.3_Missense_Mutation_p.P307S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.P307S|LY75-CD302_uc010fot.2_Missense_Mutation_p.P307S	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	307	C-type lectin 1.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										GGTGCACTGGGCCTGTCTTAA	0.433000														153			52		0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119427768	119427768	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:119427768C>T	uc001ehl.1	-	7	1393	c.1078G>A	c.(1078-1080)Ggt>Agt	p.G360S	TBX15_uc009whj.1_Missense_Mutation_p.G184S	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	466						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.Y359Y(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGCTGGCCACCGTAGGCTTCC	0.567000														104			11		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77931441	77931441	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77931441G>A	uc001ozh.3	-	8	1913	c.1811C>T	c.(1810-1812)gCc>gTc	p.A604V	GAB2_uc001ozg.3_Missense_Mutation_p.A566V	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	604					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTTCTTAGGGGCAGGACTGTT	0.582000														126			32		0	0	1	0	0
CCDC106	29903	broad.mit.edu	37	19	56163952	56163952	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56163952A>C	uc002qlr.3	+	5	1418	c.683A>C	c.(682-684)gAg>gCg	p.E228A	CCDC106_uc021vcc.1_Missense_Mutation_p.E228A|CCDC106_uc021vcd.1_Missense_Mutation_p.E228A|CCDC106_uc002qls.3_Missense_Mutation_p.E228A|U2AF2_uc002qlt.3_5'Flank|U2AF2_uc002qlu.3_5'Flank	NM_013301	NP_037433	Q9BWC9	CC106_HUMAN	Homo sapiens coiled-coil domain containing 106 (CCDC106), mRNA.	228						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GTGGCCCCCGAGAAGCTGGCC	0.662000														184			44		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19961293	19961293	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:19961293G>A	uc010rdm.2	+	8	2550	c.2189G>A	c.(2188-2190)gGa>gAa	p.G730E	NAV2_uc001mpp.3_Missense_Mutation_p.G643E|NAV2_uc001mpr.4_Missense_Mutation_p.G707E|NAV2_uc021qew.1_Missense_Mutation_p.G707E	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	730						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCAAGACTGGACAGCCTGCT	0.532000														51			17		0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7170280	7170280	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:7170280C>T	uc002qys.3	+	7	1123	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	227						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGATACACTACGATAAGGGAC	0.542000														219			11		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158650471	158650471	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158650471C>T	uc001fst.1	-	4	779	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	194					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)					TGCAGAACTTCGGTGCGCTCC	0.463000														131			48		0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168079	161168079	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161168079G>A	uc001fyt.4	-	0	767	c.339C>T	c.(337-339)ggC>ggT	p.G113G	ADAMTS4_uc001fyu.2_Silent_p.G113G|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	113					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGCGCCTGGCCCAGGTACT	0.642000														136			14		0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157891977	157891977	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:157891977T>C	uc003iph.2	-	0	570	c.79A>G	c.(79-81)Agt>Ggt	p.S27G	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	27					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		AATTTACTACTCAGGTTGGAT	0.542000											OREG0016375	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		132			35		0	0	1	0	0
PACSIN1	29993	broad.mit.edu	37	6	34499506	34499506	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34499506C>T	uc003ojo.3	+	8	1425	c.1167C>T	c.(1165-1167)cgC>cgT	p.R389R	PACSIN1_uc003ojp.3_Silent_p.R389R	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	389	SH3.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						AGGGAGTGCGCGTGCGGGCAC	0.657000														389			85		0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310189	56310189	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56310189G>A	uc010rjl.2	-	0	545	c.545C>T	c.(544-546)cCg>cTg	p.P182L	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTAATGAGCGGCGGGTCAGC	0.502000														60			12		0	0	1	0	0
IFI44L	10964	broad.mit.edu	37	1	79102805	79102805	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:79102805T>A	uc010oro.2	+	5	1144	c.965T>A	c.(964-966)gTc>gAc	p.V322D	IFI44L_uc010orp.2_Missense_Mutation_p.V59D|IFI44L_uc010orq.2_Missense_Mutation_p.V59D	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	322						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GTGGCTTATGTCTTAGACATC	0.368000														92			28		0	0	1	0	0
POLR3E	55718	broad.mit.edu	37	16	22324989	22324989	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22324989G>A	uc002dkk.3	+	6	569	c.413G>A	c.(412-414)aGc>aAc	p.S138N	POLR3E_uc002dkj.1_Missense_Mutation_p.S138N|POLR3E_uc002dkm.3_Missense_Mutation_p.S102N|POLR3E_uc010vbr.2_Missense_Mutation_p.S138N|POLR3E_uc002dkl.3_Missense_Mutation_p.S138N|POLR3E_uc010vbs.2_Missense_Mutation_p.S102N|POLR3E_uc010vbt.2_Missense_Mutation_p.S82N	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide E (80kD) (POLR3E), mRNA.	138					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CTGCGGCCCAGCTTCTCCTAC	0.627000														116			25		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215862523	215862523	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215862523T>G	uc002vew.3	-	22	3410	c.3190A>C	c.(3190-3192)Agt>Cgt	p.S1064R	ABCA12_uc002vev.3_Missense_Mutation_p.S746R|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1064					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)		TAAGAGACACTGGTTAGGAAG	0.363000														50			13		0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7705999	7705999	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:7705999C>T	uc003gkb.4	+	13	1856	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M	SORCS2_uc011bwi.2_Missense_Mutation_p.T447M	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	619						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						GGGGACGAGACGCTGGTCATG	0.662000														42			8		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76891429	76891429	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76891429C>T	uc001oyb.2	+	21	2868	c.2596C>T	c.(2596-2598)Cgc>Tgc	p.R866C	MYO7A_uc010rsl.2_Missense_Mutation_p.R866C|MYO7A_uc010rsm.1_Missense_Mutation_p.R855C|MYO7A_uc001oyc.2_Missense_Mutation_p.R866C|MYO7A_uc001oyd.3_Missense_Mutation_p.R206C|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.R77C	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	866					actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTATCTGTGGCGCCTCGAGGC	0.587000														38			4		0	0	1	0	0
C3orf37	56941	broad.mit.edu	37	3	128998687	128998687	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128998687T>C	uc003elt.3	+	1	200	c.112T>C	c.(112-114)Tac>Cac	p.Y38H	C3orf37_uc003elu.3_Missense_Mutation_p.Y38H|C3orf37_uc003elv.3_Missense_Mutation_p.Y38H|C3orf37_uc003elw.3_Missense_Mutation_p.Y38H	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	Homo sapiens chromosome 3 open reading frame 37 (C3orf37), transcript variant 2, mRNA.	38										breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						CCCTGATAAGTACTGCCCCTC	0.552000														85			17		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50181041	50181041	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50181041C>T	uc011arg.2	-	7	2622	c.2608G>A	c.(2608-2610)Gca>Aca	p.A870T	BRD1_uc011arf.2_Missense_Mutation_p.A547T|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.A821T|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.A952T	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	821					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.A870A(1)		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)		CATTTACCTGCGTCCAGGCGC	0.657000														113			24		0	0	1	0	0
AGAP1	116987	broad.mit.edu	37	2	236626223	236626223	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:236626223G>T	uc002vvs.3	+	2	843	c.245G>T	c.(244-246)aGc>aTc	p.S82I	AGAP1_uc002vvt.3_Missense_Mutation_p.S82I|AGAP1_uc021vyp.1_Missense_Mutation_p.S82I	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	82	Small GTPase-like.		S -> G (in an autistic patient).		protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AACTTGGCCAGCGGCAAGTCT	0.478000														102			26		1.17739e-12	1.36172e-12	1	1	0
UBE2MP1	606551	broad.mit.edu	37	16	34404626	34404626	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:34404626G>A	uc002edv.1	-	0		c.137C>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		TACCGCTgccgccgcggggcc	0.721000														39			8		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151100468	151100468	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151100468C>T	uc003eyp.3	+	30	4639	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*	MED12L_uc011bnz.2_Nonsense_Mutation_p.R1364*|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Nonsense_Mutation_p.R667*	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1504					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAGAGAAGAACGATACCAAGA	0.348000														50			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085546	9085546	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9085546A>C	uc002mkp.3	-	0	6473	c.6269T>G	c.(6268-6270)tTt>tGt	p.F2090C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2090	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAAGAGTGGAAATTCAGTCGT	0.473000														228			50		0	0	1	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377105	125377105	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125377105T>G	uc011lyy.2	+	0	89	c.89T>G	c.(88-90)gTt>gGt	p.V30G		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						CTCTTCCTTGTTTTCTCACTC	0.478000														210			46		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	33935590	33935590	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:33935590G>A	uc021uiv.1	+	1	351	c.254G>A	c.(253-255)gGc>gAc	p.G85D	FHOD3_uc002kzr.1_Missense_Mutation_p.G85D|FHOD3_uc002kzs.1_Missense_Mutation_p.G85D|FHOD3_uc002kzt.1_Missense_Mutation_p.G85D	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	85	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GAGTTGGAAGGCTTCCAGGAT	0.547000														90			13		0	0	1	0	0
LOC100499466	100499466	broad.mit.edu	37	17	66123628	66123628	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66123628G>A	uc002jgq.3	+	5		c.2751G>A								Homo sapiens uncharacterized LOC100499466 (LOC100499466), non-coding RNA.																		GTGAATGAAGGCTTGGTGTAG	0.552000														56			9		0	0	1	0	0
KIAA1614	57710	broad.mit.edu	37	1	180886166	180886166	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180886166C>T	uc001gok.2	+	1	994	c.927C>T	c.(925-927)aaC>aaT	p.N309N		NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	309								p.L308L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGATGCTCAACGTTTCTGGGC	0.622000														124			34		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119296	72119296	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72119296G>A	uc002atl.4	-	41	7745	c.7272C>T	c.(7270-7272)gaC>gaT	p.D2424D	MYO9A_uc002atk.3_Silent_p.D1219D	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2424	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CATCTAAAGAGTCTTGCTGCT	0.428000														98			21		0	0	1	0	0
AURKC	6795	broad.mit.edu	37	19	57746274	57746274	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57746274C>T	uc002qoe.3	+	5	796	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	AURKC_uc002qoc.3_Silent_p.L184L|AURKC_uc002qod.3_Silent_p.L169L|AURKC_uc010etv.3_Silent_p.L200L	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	203	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTGTGGGACACTGGACTACTT	0.483000														66			13		0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46677077	46677077	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46677077C>T	uc010jzf.3	-	8	1125	c.856G>A	c.(856-858)Gat>Aat	p.D286N	PLA2G7_uc021zae.1_Missense_Mutation_p.D286N	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	286					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AATCTCTGATCTTCACTAAGA	0.284000														65			17		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529833	80529833	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80529833C>A	uc021vjt.1	-	0	1112	c.1112G>T	c.(1111-1113)aGc>aTc	p.S371I	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.S371I	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	371						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CAGGTGGCCGCTGGTGGGCTC	0.726000										HNSCC(69;0.2)				81			24		1.96895e-08	2.15575e-08	1	1	0
RBFA	79863	broad.mit.edu	37	18	77796699	77796699	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:77796699G>T	uc002lns.3	+	1	340	c.190G>T	c.(190-192)Ggt>Tgt	p.G64C	TXNL4A_uc010drg.3_5'Flank|RBFA_uc010drh.3_Missense_Mutation_p.G64C|RBFA_uc010dri.2_Intron	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	Homo sapiens ribosome binding factor A (putative) (RBFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					rRNA processing	mitochondrion				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TCCTTCCTTGGGTTCTCACTC	0.378000														46			9		0.000673444	0.000690401	1	1	0
PIGQ	9091	broad.mit.edu	37	16	633554	633554	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:633554G>A	uc002cho.3	+	9	2341	c.2203G>A	c.(2203-2205)Gtc>Atc	p.V735I	PIGQ_uc010bqw.3_3'UTR|PIGQ_uc002chn.3_3'UTR|PIGQ_uc010uui.2_3'UTR|PIGQ_uc002chp.3_Missense_Mutation_p.V305I|PIGQ_uc010uuj.2_Missense_Mutation_p.R78W	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Q (PIGQ), transcript variant 1, mRNA.	735					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTGACCCCCGTCCCCAGCGG	0.627000														205			22		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197072431	197072431	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197072431G>T	uc001gtu.3	-	17	6207	c.5950C>A	c.(5950-5952)Cat>Aat	p.H1984N	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1984	IQ 13.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGTTGCACATGCATTCTATAG	0.358000														174			49		1.56793e-16	1.87132e-16	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84115363	84115363	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84115363C>T	uc002fhi.3	-	10	1939	c.1437G>A	c.(1435-1437)aaG>aaA	p.K479K		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	479					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTGCCTGTGGCTTGTAGCTGT	0.567000														185			30		0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515910	51515910	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51515910C>A	uc010ric.2	+	0	629	c.629C>A	c.(628-630)gCc>gAc	p.A210D		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTAAACTTTGCCCTCCTGCTG	0.517000														131			33		3.67414e-24	4.56162e-24	1	1	0
FCRL5	83416	broad.mit.edu	37	1	157494130	157494130	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157494130G>T	uc009wsm.3	-	9	2336	c.2178C>A	c.(2176-2178)tcC>tcA	p.S726S	FCRL5_uc001fqu.3_Silent_p.S726S|FCRL5_uc010phv.1_Silent_p.S726S|FCRL5_uc010phw.1_Silent_p.S641S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	726	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CTGCCTCACAGGAGTAGATTC	0.542000														145			56		4.32865e-36	5.48767e-36	1	1	0
LAMB2	3913	broad.mit.edu	37	3	49159704	49159704	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49159704G>A	uc003cwe.3	-	27	4972	c.4673C>T	c.(4672-4674)gCg>gTg	p.A1558V	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1558	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTCTGCAATCGCACCCGCCAG	0.607000														150			37		0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471719	47471719	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:47471719T>C	uc001rpm.3	-	2	1722	c.1067A>G	c.(1066-1068)gAg>gGg	p.E356G	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.E356G|AMIGO2_uc001rpl.3_Missense_Mutation_p.E356G|AMIGO2_uc021qxg.1_Missense_Mutation_p.E356G	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	356	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TCCAGCATCCTCAAAACGAGG	0.418000														214			15		0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797065	54797065	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54797065G>T	uc001sga.3	-	17	1888	c.1820C>A	c.(1819-1821)gCt>gAt	p.A607D		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	607					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						GAAGTTGAGAGCGATGTGAAT	0.572000														289			57		1.22119e-34	1.54556e-34	1	1	0
USP43	124739	broad.mit.edu	37	17	9631500	9631500	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:9631500C>T	uc010cod.3	+	14	2565	c.2565C>T	c.(2563-2565)ggC>ggT	p.G855G	USP43_uc002gma.4_Silent_p.G544G|USP43_uc010vva.2_Silent_p.G850G|USP43_uc010coe.3_Silent_p.G652G|USP43_uc002gmc.4_Silent_p.G367G	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	855					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGTTGACGGGCACTGCGGGTG	0.597000														58			19		0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242080137	242080137	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242080137T>C	uc002wao.2	-	2	361	c.228A>G	c.(226-228)tcA>tcG	p.S76S	PASK_uc010zol.2_Intron|PASK_uc010zom.2_Silent_p.S76S|PASK_uc010fzl.2_Silent_p.S76S|PASK_uc010zon.2_Intron|PASK_uc021vzf.1_Silent_p.S76S|PASK_uc002waq.3_Silent_p.S76S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	76					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)		GGGCAGCCAGTGATGATAGAC	0.542000														112			22		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814456	106814456	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:106814456C>T	uc003ymd.3	+	7	2169	c.2146C>T	c.(2146-2148)Cct>Tct	p.P716S	ZFPM2_uc011lhs.2_Missense_Mutation_p.P447S	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	716					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACGCCACGACCCTCCACTGAA	0.502000														54			11		0	0	1	0	0
ALKBH1	8846	broad.mit.edu	37	14	78142126	78142126	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:78142126C>T	uc001xuc.1	-	4	622	c.613G>A	c.(613-615)Gct>Act	p.A205T		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	205					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		CCACAGGCAGCGGCTACTTGC	0.458000														114			17		0	0	1	0	0
ACTG2	72	broad.mit.edu	37	2	74146577	74146577	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74146577C>T	uc002sjw.3	+	8	1128	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	ACTG2_uc010yrn.2_Missense_Mutation_p.R293W|ACTG2_uc010fey.3_Missense_Mutation_p.R336W	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	336					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TCCCCCAGAGCGGAAGTACTC	0.507000														113			18		0	0	1	0	0
DIRAS1	148252	broad.mit.edu	37	19	2717589	2717589	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2717589C>T	uc002lwf.3	-	1	374	c.216G>A	c.(214-216)caG>caA	p.Q72Q	DIRAS1_uc021umt.1_Silent_p.Q72Q	NM_145173	NP_660156	O95057	DIRA1_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 1 (DIRAS1), mRNA.	72					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGGCGCTGCATGGCCG	0.627000														102			28		0	0	1	0	0
APTX	54840	broad.mit.edu	37	9	32987600	32987600	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32987600C>A	uc003zry.3	-	3	504	c.467G>T	c.(466-468)aGc>aTc	p.S156I	APTX_uc022bfi.1_Missense_Mutation_p.S142I|APTX_uc003zrm.3_Missense_Mutation_p.S142I|APTX_uc003zrj.3_Missense_Mutation_p.S54I|APTX_uc003zrl.3_5'UTR|APTX_uc011lns.2_5'UTR|APTX_uc003zrn.3_Missense_Mutation_p.S54I|APTX_uc003zro.3_Missense_Mutation_p.S142I|APTX_uc003zrp.3_Missense_Mutation_p.S54I|APTX_uc003zrr.3_Missense_Mutation_p.S88I|APTX_uc003zrq.3_Missense_Mutation_p.S54I|APTX_uc003zrs.3_Missense_Mutation_p.S142I|APTX_uc003zsb.2_5'UTR|APTX_uc003zru.3_Missense_Mutation_p.S102I|APTX_uc022bfj.1_Missense_Mutation_p.S156I|APTX_uc003zrx.3_Missense_Mutation_p.S142I|APTX_uc003zrw.3_Intron|APTX_uc003zrv.3_Missense_Mutation_p.S156I|APTX_uc003zrt.3_Missense_Mutation_p.S54I|APTX_uc003zsa.1_Missense_Mutation_p.S88I|APTX_uc003zsc.2_Non-coding_Transcript	NM_001195248	NP_001182177	Q7Z2E3	APTX_HUMAN	Homo sapiens aprataxin (APTX), transcript variant 6, mRNA.	156					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	DNA 5'-adenosine monophosphate hydrolase activity|chromatin binding|damaged DNA binding|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GCCAGAGTTGCTCCCAGGTTC	0.488000								Editing and processing nucleases						203			34		4.4194e-11	5.01679e-11	1	1	0
STAB1	23166	broad.mit.edu	37	3	52556666	52556666	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52556666G>A	uc003dej.3	+	60	6780	c.6706G>A	c.(6706-6708)Gtc>Atc	p.V2236I	STAB1_uc003dek.1_Missense_Mutation_p.V251I|STAB1_uc003del.3_Missense_Mutation_p.V123I	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2236	Link.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A2235A(1)|p.V2236V(1)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACAGGGAGCCGTCCTTGCTTC	0.617000														217			49		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983622	29983622	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983622C>T	uc011kaa.2	-	3	624	c.575G>A	c.(574-576)gGg>gAg	p.G192E	SCRN1_uc011jzy.2_Missense_Mutation_p.G104E|SCRN1_uc003tak.3_Missense_Mutation_p.G172E|SCRN1_uc011jzz.2_Missense_Mutation_p.G172E|SCRN1_uc011jzw.2_Missense_Mutation_p.G104E|SCRN1_uc010kvp.3_Missense_Mutation_p.G172E|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCAGTACTTCCCTATGGTCTC	0.532000														164			34		0	0	1	0	0
XPC	7508	broad.mit.edu	37	3	14209881	14209881	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14209881C>T	uc011ave.2	-	4	517	c.413_splice	c.e4-1	p.E138_splice	XPC_uc011avf.2_Intron|XPC_uc011avg.2_Intron	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	138	Glu-rich (acidic).				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	XPC complex|cytoplasm|nucleoplasm	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCACTAAGTTCTATCAACAAG	0.423000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum					67			5		0	0	1	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499124	40499124	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40499124C>T	uc010skm.2	-	0	538	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	SLC2A13_uc001rmf.3_Missense_Mutation_p.A163T	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	163						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCCAGCACCGCGGAGCCGGCG	0.741000										HNSCC(50;0.14)				30			4		0	0	1	0	0
DBX2	440097	broad.mit.edu	37	12	45429866	45429866	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45429866C>T	uc001rok.1	-	1	607	c.435G>A	c.(433-435)ccG>ccA	p.P145P		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		agtagaatggcggggtgctca	0.473000														65			12		0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26115921	26115921	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:26115921G>A	uc002gzu.3	-	3	496	c.232C>T	c.(232-234)Cca>Tca	p.P78S	NOS2_uc010crh.1_Missense_Mutation_p.P78S|NOS2_uc010wab.1_Missense_Mutation_p.P78S	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	78					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGGACAATGGGGTTGCATCC	0.537000														261			46		0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13618094	13618094	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:13618094A>G	uc004cvj.3	+	4	568	c.281_splice	c.e4-1	p.D94_splice	EGFL6_uc004cvi.3_Splice_Site_p.D94_splice|EGFL6_uc011mik.1_Splice_Site	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	94	EGF-like 2; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GTCCCTGCAGATGTGAATGAG	0.478000														104			19		0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507051	18507051	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18507051G>A	uc002niw.3	-	0	1365	c.723C>T	c.(721-723)gaC>gaT	p.D241D	LRRC25_uc002nix.3_Silent_p.D241D	NM_145256	NP_660299	Q8N386	LRC25_HUMAN	Homo sapiens leucine rich repeat containing 25 (LRRC25), mRNA.	241						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TGTTCTCATAGTCGGGAGTGG	0.602000														178			43		0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30514929	30514929	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30514929G>T	uc003nqh.3	-	9	2792	c.1401C>A	c.(1399-1401)ccC>ccA	p.P467P	GNL1_uc011dmi.2_Silent_p.P264P|GNL1_uc011dmj.2_Silent_p.P465P|GNL1_uc011dmk.2_Silent_p.P122P	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	467					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	p.P467S(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTTCCGCTGAGGGGTCCTCAG	0.637000														228			49		8.86878e-18	1.06657e-17	1	1	0
PION	54103	broad.mit.edu	37	7	76943748	76943748	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76943748C>T	uc003ugf.3	-	26	2227	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	PION_uc011kgo.2_Silent_p.L37L|PION_uc003ugd.3_Silent_p.L110L	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN	Homo sapiens pigeon homolog (Drosophila) (PION), mRNA.	716					beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAATGCAATGCAGCAGGTTAT	0.493000														112			25		0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73521597	73521597	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73521597C>T	uc001jsd.3	-	1	410	c.269G>A	c.(268-270)cGc>cAc	p.R90H	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_5'UTR	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	90	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CGTGAGGTTGCGGATGGGCCG	0.657000														132			26		0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407022	55407022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55407022C>T	uc003jqu.3	-	9	1705	c.1553G>A	c.(1552-1554)aGa>aAa	p.R518K	ANKRD55_uc003jqt.3_Missense_Mutation_p.R230K	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	517										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACTGAGCAATCTGTCCAGCAG	0.468000														368			14		0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	670816	670816	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:670816C>T	uc010dka.1	+	4	820	c.681C>T	c.(679-681)atC>atT	p.I227I	TYMS_uc010dkb.1_Silent_p.I193I|TYMS_uc010dkc.1_Silent_p.I144I|ENOSF1_uc010dkf.3_3'UTR|ENOSF1_uc002kku.4_3'UTR|ENOSF1_uc002kkt.4_3'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_3'UTR	NM_001071	NP_001062	P04818	TYSY_HUMAN	Homo sapiens thymidylate synthetase (TYMS), mRNA.	227					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity	p.I227I(2)		endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	CTTTCAACATCGCCAGCTACG	0.587000														198			39		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47882405	47882405	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47882405C>T	uc003cru.3	+	6	831	c.405C>T	c.(403-405)gaC>gaT	p.D135D	DHX30_uc003crs.2_Silent_p.D96D|DHX30_uc003crt.3_Silent_p.D96D|DHX30_uc010hjr.1_Silent_p.D163D	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	135						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTGTTTGACGCAGCCAAAT	0.582000														127			26		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48698039	48698039	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48698039C>T	uc003cuf.1	-	2	2239	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	CELSR3_uc003cul.3_Missense_Mutation_p.D677N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	677	Cadherin 4.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTCTGCATCGACTGCCTGA	0.498000														105			29		0	0	1	0	0
YIPF3	25844	broad.mit.edu	37	6	43480031	43480031	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43480031G>T	uc003ovl.2	-	8	1110	c.927C>A	c.(925-927)ggC>ggA	p.G309G	LRRC73_uc003ovk.1_5'Flank|YIPF3_uc011dvk.2_Silent_p.G274G	NM_015388	NP_056203	Q9GZM5	YIPF3_HUMAN	Homo sapiens Yip1 domain family, member 3 (YIPF3), mRNA.	309					cell differentiation	integral to membrane|plasma membrane|transport vesicle		p.G309C(1)		large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGATGTTGGGGCCCTCCAGTG	0.612000														179			44		3.54561e-26	4.4286e-26	1	1	0
VARS	7407	broad.mit.edu	37	6	31749480	31749480	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31749480G>T	uc003nxe.3	-	19	2829	c.2406C>A	c.(2404-2406)ggC>ggA	p.G802G	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.	802					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)	GGTTGGGCCAGCCCAAAATGG	0.607000														120			26		3.73988e-18	4.50785e-18	1	1	0
MEGF11	84465	broad.mit.edu	37	15	66190303	66190303	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190303G>A	uc002apm.2	-	22	3245	c.3104C>T	c.(3103-3105)gCc>gTc	p.A1035V	MEGF11_uc002apl.2_Missense_Mutation_p.A960V	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	1035						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CGGCCCATTGGCAGGGCTCTG	0.483000														125			23		0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4874574	4874574	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4874574C>T	uc003snj.1	-	3	1253	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_5'Flank|RADIL_uc011jwc.1_Silent_p.Q120Q|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	360	FHA.				cell adhesion|multicellular organismal development|signal transduction		protein binding	p.A359G(1)|p.Q360K(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GGGGCTGGGCCTGCGCGGGGT	0.746000														47			9		0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101714357	101714357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101714357C>T	uc001vox.1	-	40	4907	c.4718G>A	c.(4717-4719)cGc>cAc	p.R1573H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1573						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGCCACATGCGGATGGTCTG	0.637000														128			22		0	0	1	0	0
RBMX2	51634	broad.mit.edu	37	X	129546425	129546425	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129546425G>A	uc004evt.3	+	5	636	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	Homo sapiens RNA binding motif protein, X-linked 2 (RBMX2), mRNA.	191	Lys-rich.						RNA binding|nucleotide binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TCACCCAGACGCAAGACAGTA	0.488000														129			22		0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49214249	49214249	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:49214249T>G	uc010zyt.2	-	14	1911	c.1660_splice	c.e14-1	p.P554_splice	FAM65C_uc010zyu.1_Splice_Site|FAM65C_uc002xvm.3_Splice_Site_p.P550_splice|FAM65C_uc002xvn.1_Intron	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	550										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTGCAGGGCTGTGGACGAAG	0.662000														29			11		0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193166086	193166086	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:193166086C>T	uc003ftd.3	-	17	2169	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	ATP13A4_uc003fte.1_Silent_p.G687G|ATP13A4_uc011bsr.1_Silent_p.G158G|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	687					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		AGATCAGCAGCCCCAGAAATA	0.398000														99			15		0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179714776	179714776	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179714776C>T	uc002une.2	-	21	3475	c.3357_splice	c.e21+1	p.K1119_splice	CCDC141_uc002unf.1_Splice_Site_p.K598_splice	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	544							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AAGAAATTACCTTCAGTTTTT	0.313000														58			5		0	0	1	0	0
C15orf29	79768	broad.mit.edu	37	15	34440855	34440855	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34440855C>T	uc001zhp.3	-	4	695	c.535G>A	c.(535-537)Gaa>Aaa	p.E179K	C15orf29_uc010ubz.2_Missense_Mutation_p.E83K|C15orf29_uc010uca.1_Missense_Mutation_p.E179K	NM_024713	NP_078989	Q9H079	CO029_HUMAN	Homo sapiens chromosome 15 open reading frame 29 (C15orf29), mRNA.	179						nucleolus				kidney(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	5		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)		GCTACAAGTTCACTTATACTT	0.373000														56			9		0	0	1	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919059	17919059	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17919059G>A	uc002nhl.1	+	1	590	c.443G>A	c.(442-444)gGc>gAc	p.G148D	B3GNT3_uc010ebd.1_Missense_Mutation_p.G148D|B3GNT3_uc010ebe.1_Missense_Mutation_p.G148D	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	148					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						TTCCTGGTGGGCACAGCCTCC	0.672000														116			28		0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703961	68703961	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68703961G>A	uc001ook.1	+	12	2115	c.2013G>A	c.(2011-2013)acG>acA	p.T671T	IGHMBP2_uc001ool.1_Silent_p.T295T|IGHMBP2_uc001oom.1_Silent_p.T249T	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	671			T -> A (in dbSNP:rs622082).		DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GACCTGCTACGTCCACCAGGA	0.622000														149			50		0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990189	15990189	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15990189G>T	uc002nbs.1	-	11	1414	c.1364C>A	c.(1363-1365)cCt>cAt	p.P455H	CYP4F2_uc010xot.1_Missense_Mutation_p.P306H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	455					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAAGCCAGAGGTGACCTCTC	0.602000														317			75		6.47592e-44	8.24691e-44	1	1	0
FAM168B	130074	broad.mit.edu	37	2	131813237	131813237	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131813237G>A	uc002tsd.3	-	3	415	c.186C>T	c.(184-186)tcC>tcT	p.S62S		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	62										endometrium(3)|lung(2)	5						TGGGGGAACAGGACACTTTGT	0.622000														87			7		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982274	57982274	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982274A>G	uc010rkc.2	+	0	58	c.58A>G	c.(58-60)Acc>Gcc	p.T20A		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	20					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)				AGGAAACCAAACCACCATCAC	0.413000														140			29		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124397810	124397810	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124397810C>T	uc001uft.4	+	58	9971	c.9946C>T	c.(9946-9948)Cgg>Tgg	p.R3316W		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3316					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CATGGAGAGGCGGCTGATTGC	0.537000														22			3		0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	58511691	58511691	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58511691G>A	uc003jsa.2	-	1	731	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PDE4D_uc003jrx.2_Nonsense_Mutation_p.R51*|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Nonsense_Mutation_p.R123*|PDE4D_uc003jsb.3_Nonsense_Mutation_p.R126*|PDE4D_uc003jsc.3_Nonsense_Mutation_p.R123*|PDE4D_uc003jrv.2_Nonsense_Mutation_p.R57*|PDE4D_uc003jrw.2_Nonsense_Mutation_p.R65*|PDE4D_uc010iwi.1_Nonsense_Mutation_p.R19*	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	187					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GACTCCCGTCGTTGACTGTGG	0.517000														91			14		0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897708	104897708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104897708G>A	uc003yls.3	+	1	456	c.215G>A	c.(214-216)aGg>aAg	p.R72K	RIMS2_uc003ylp.3_Missense_Mutation_p.R294K|RIMS2_uc003ylw.2_Missense_Mutation_p.R102K|RIMS2_uc003ylq.3_Missense_Mutation_p.R102K|RIMS2_uc003ylr.3_Missense_Mutation_p.R102K	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	325	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTAAGTTATAGGGACTCCAAC	0.408000										HNSCC(12;0.0054)				92			13		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140772663	140772663	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140772663C>A	uc003lkd.2	+	0	1181	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.L95I|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	95	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGAGGAGCTCTGCGCTCA	0.517000														143			36		4.65686e-17	5.57603e-17	1	1	0
VPS13C	54832	broad.mit.edu	37	15	62165457	62165457	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:62165457C>A	uc002agz.3	-	77	10657	c.10566G>T	c.(10564-10566)aaG>aaT	p.K3522N	VPS13C_uc002aha.3_Missense_Mutation_p.K3479N|VPS13C_uc002ahb.2_Missense_Mutation_p.K3522N|VPS13C_uc002ahc.2_Missense_Mutation_p.K3479N	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3522					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGAAAGCCCTTTCCTCCTC	0.408000														249			51		9.22156e-22	1.1337e-21	1	1	0
FAT4	79633	broad.mit.edu	37	4	126241875	126241875	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126241875A>G	uc003ifj.4	+	0	4309	c.4309A>G	c.(4309-4311)Aca>Gca	p.T1437A		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1437	Cadherin 14.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCATCGGTACATCTGTCAT	0.418000														185			11		0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48033396	48033396	+	Nonsense_Mutation	SNP	G	T	T	rs35717727	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48033396G>T	uc002rwd.4	+	7	3852	c.3700G>T	c.(3700-3702)Gaa>Taa	p.E1234*	MSH6_uc010fbj.3_Nonsense_Mutation_p.E932*|MSH6_uc010yoj.2_Nonsense_Mutation_p.E932*	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	1234			E -> Q (in dbSNP:rs35717727).		DNA damage response, signal transduction resulting in induction of apoptosis|determination of adult lifespan|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTGTTAAAGAACTTGCTGA	0.343000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					65			18		3.52763e-06	3.73571e-06	1	1	0
GAK	2580	broad.mit.edu	37	4	877192	877192	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:877192G>A	uc003gbm.4	-	12	1514	c.1315C>T	c.(1315-1317)Cgg>Tgg	p.R439W	GAK_uc003gbn.4_Missense_Mutation_p.R360W|GAK_uc010ibk.1_Missense_Mutation_p.R333W|GAK_uc003gbl.4_Missense_Mutation_p.R303W	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	439	Phosphatase tensin-type.				cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGGAACAACCGCACATCTTCG	0.577000														226			33		0	0	1	0	0
GSTM4	2948	broad.mit.edu	37	1	110211562	110211562	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110211562G>A	uc001dyi.3	+	2	442	c.128G>A	c.(127-129)aGa>aAa	p.R43K	GSTM4_uc001dyj.3_Missense_Mutation_p.R43K|GSTM4_uc010ovt.2_Missense_Mutation_p.R43K|GSTM4_uc009wfk.3_Non-coding_Transcript	NM_000848	NP_000839	Q03013	GSTM4_HUMAN	Homo sapiens glutathione S-transferase mu 2 (muscle) (GSTM2), transcript variant 1, mRNA.	43	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	GATTATGACAGAAGCCAGTGG	0.552000														102			24		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154174798	154174798	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154174798T>C	uc003lvo.3	+	7	1089	c.1065T>C	c.(1063-1065)gcT>gcC	p.A355A	LARP1_uc021ygh.1_Silent_p.A227A|LARP1_uc021ygi.1_Silent_p.A432A|LARP1_uc010jie.1_Silent_p.A227A	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	432							RNA binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAATGGATGCTGATGGTTTCC	0.478000														112			33		0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29293566	29293566	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29293566G>T	uc002rmt.2	-	0	3562	c.3562C>A	c.(3562-3564)Cct>Act	p.P1188T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1188					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						CTGAGGAAAGGCAGAGGGTTG	0.632000														158			23		1.50039e-11	1.71053e-11	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1267146	1267146	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1267146G>A	uc001lta.3	+	30	9095	c.9036G>A	c.(9034-9036)ccG>ccA	p.P3012P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3012	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGGCCATCCCGTCCTCCACCC	0.642000														324			72		0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159627858	159627858	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159627858T>G	uc003iqb.3	+	11	1878	c.1546T>G	c.(1546-1548)Ttt>Gtt	p.F516V	ETFDH_uc011cjg.2_Missense_Mutation_p.F469V|ETFDH_uc010iqr.3_Missense_Mutation_p.F113V|ETFDH_uc011cjh.2_Missense_Mutation_p.F455V|ETFDH_uc010iqs.3_Missense_Mutation_p.F438V	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	516					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ACAGATCAGTTTTGACCTCTT	0.438000														269			66		0	0	1	0	0
ING5	84289	broad.mit.edu	37	2	242648728	242648728	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242648728G>T	uc002wcd.3	+	2	232	c.207G>T	c.(205-207)caG>caT	p.Q69H	ING5_uc021vzk.1_Missense_Mutation_p.Q69H	NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	Homo sapiens inhibitor of growth family, member 5 (ING5), mRNA.	69					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		AGAAGATCCAGAACGCCTACA	0.577000														253			102		4.31119e-35	5.45948e-35	1	1	0
KDM5B	10765	broad.mit.edu	37	1	202700144	202700144	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:202700144G>A	uc009xag.3	-	25	4293	c.4177C>T	c.(4177-4179)Cag>Tag	p.Q1393*	KDM5B_uc001gyf.3_Nonsense_Mutation_p.Q1357*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.Q1199*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1357					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AGGGATACCTGGAGCAGCTGG	0.458000														79			14		0	0	1	0	0
AMH	268	broad.mit.edu	37	19	2249555	2249555	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2249555C>T	uc002lvh.2	+	0	443	c.224C>T	c.(223-225)gCt>gTt	p.A75V	AMH_uc021umr.1_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	Homo sapiens anti-Mullerian hormone (AMH), mRNA.	75					Mullerian duct regression|cell differentiation|cell-cell signaling|gonadal mesoderm development|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone activity			lung(2)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTGGGGGCTCTAAGCGCC	0.701000									Persistant Mullerian Duct Syndrome (type I and II)					24			5		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43152468	43152468	+	Silent	SNP	C	T	T	rs146357794		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43152468C>T	uc003ouk.3	+	1	495	c.420C>T	c.(418-420)gcC>gcT	p.A140A	CUL9_uc003ouj.1_Silent_p.A140A|CUL9_uc003oul.3_Silent_p.A140A|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	140					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	p.T139T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCCTCACGGCCGCTGTGCTTC	0.627000														208			39		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53825160	53825160	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53825160T>A	uc001scx.2	+	10	1705	c.1625T>A	c.(1624-1626)cTc>cAc	p.L542H	AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Missense_Mutation_p.L447H	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	542					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CCTACCATCCTCCCCTGTAGG	0.577000														159			45		0	0	1	0	0
C11orf88	399949	broad.mit.edu	37	11	111385713	111385713	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:111385713G>T	uc009yyd.3	+	0	204	c.204G>T	c.(202-204)cgG>cgT	p.R68R	BTG4_uc001plj.3_5'Flank|BTG4_uc001plk.3_5'Flank|C11orf88_uc001plo.1_Silent_p.R68R|C11orf88_uc001pln.4_Silent_p.R68R	NM_207430	NP_997313	Q6PI97	CK088_HUMAN	Homo sapiens chromosome 11 open reading frame 88 (C11orf88), transcript variant 1, mRNA.	68										endometrium(1)|large_intestine(3)|lung(2)	6						CGGTGGCGCGGCCCAGGAGGA	0.602000											OREG0021329	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		75			17		8.34094e-07	8.90579e-07	1	1	0
MPDZ	8777	broad.mit.edu	37	9	13125244	13125244	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:13125244G>T	uc010mia.1	-	33	4835	c.4778C>A	c.(4777-4779)tCt>tAt	p.S1593Y	MPDZ_uc003zky.4_Missense_Mutation_p.S155Y|MPDZ_uc010mib.3_Missense_Mutation_p.S298Y|MPDZ_uc010mhx.3_Missense_Mutation_p.S415Y|MPDZ_uc011lmm.2_Missense_Mutation_p.S452Y|MPDZ_uc003zkz.4_Missense_Mutation_p.S286Y|MPDZ_uc010mhz.3_Missense_Mutation_p.S1560Y|MPDZ_uc011lmn.2_Missense_Mutation_p.S1560Y|MPDZ_uc010mhy.3_Missense_Mutation_p.S1593Y|MPDZ_uc003zlb.4_Missense_Mutation_p.S1593Y	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1593					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGGGGAGCCAGACTGTGGGAC	0.537000														148			31		9.65021e-13	1.11782e-12	1	1	0
PRKCH	5583	broad.mit.edu	37	14	62014512	62014512	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:62014512G>A	uc001xfn.3	+	12	2118	c.1813G>A	c.(1813-1815)Gag>Aag	p.E605K	PRKCH_uc010tsa.2_Missense_Mutation_p.E444K|PRKCH_uc010tsb.2_Missense_Mutation_p.E173K|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	605	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TCAGGGAGGCGAGCACGCCAT	0.498000														559			131		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64875903	64875903	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64875903G>A	uc001ocr.1	+	4	1000	c.960G>A	c.(958-960)gcG>gcA	p.A320A	C11orf2_uc001ocs.1_Silent_p.A196A	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	320					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						AGGTGGCGGCGGCCTACCAGG	0.701000														87			21		0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117651219	117651219	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117651219C>T	uc001prh.1	-	1	535	c.533G>A	c.(532-534)cGc>cAc	p.R178H	DSCAML1_uc001pri.1_5'UTR	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	118	Ig-like C2-type 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGCTTTGACGCGGATGTTGGG	0.587000														293			66		0	0	1	0	0
NUPL1	9818	broad.mit.edu	37	13	25912815	25912815	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:25912815G>A	uc001uqi.3	+	14	1822	c.1576G>A	c.(1576-1578)Gcc>Acc	p.A526T	NUPL1_uc001uqj.3_Missense_Mutation_p.A514T	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	Homo sapiens nucleoporin like 1 (NUPL1), transcript variant 1, mRNA.	526	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		CACCACAGGGGCCTCCACATT	0.403000														123			13		0	0	1	0	0
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	T	T	rs113417859	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40191548C>T	uc002yxf.3	+	8	1393	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ETS2_uc002yxg.3_Silent_p.F311F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	311					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552000														51			5		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31570487	31570487	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31570487G>A	uc002rnv.1	-	28	3256	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1059					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)	AAATCTTAGAGGTGGGGATTT	0.542000														146			45		0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55059041	55059041	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55059041A>C	uc003jqg.4	+	4	343	c.244A>C	c.(244-246)Atg>Ctg	p.M82L	DDX4_uc010ivz.3_Missense_Mutation_p.M82L|DDX4_uc003jqh.4_Missense_Mutation_p.M82L	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	82	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TACATCCACAATGGGTGGTTT	0.318000														74			24		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74124188	74124188	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74124188C>T	uc003hgp.3	-	0	315	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ANKRD17_uc003hgq.3_Silent_p.P66P|ANKRD17_uc003hgr.3_Silent_p.P66P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	66					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTGCTGCGGCGGCTTCTTCT	0.687000														41			14		0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118881506	118881506	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118881506C>T	uc001pul.3	+	3	472	c.416C>T	c.(415-417)tCc>tTc	p.S139F	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	139										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGTTTGGATTCCTATGAAGAA	0.438000														64			11		0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117222548	117222548	+	Silent	SNP	C	T	T	rs149281923		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:117222548C>T	uc001prc.3	+	4	384	c.237C>T	c.(235-237)aaC>aaT	p.N79N	CEP164_uc001prb.3_Silent_p.N79N|CEP164_uc001prd.2_Silent_p.N79N|CEP164_uc010rxj.1_Silent_p.N33N|CEP164_uc010rxk.1_Silent_p.N79N	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	79	Interaction with ATRIP.|WW.				DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		ACTTCGCCAACGGGCAGTCTA	0.478000														143			34		0	0	1	0	0
SP140L	93349	broad.mit.edu	37	2	231264950	231264950	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231264950A>G	uc010fxm.1	+	14	1397	c.1306A>G	c.(1306-1308)Agt>Ggt	p.S436G	SP140L_uc010fxo.1_Missense_Mutation_p.S208G	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA.	436						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						ACCTGTGGAAAGTGAGAAGTA	0.527000														96			29		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38043329	38043329	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38043329C>T	uc003ati.3	+	11	1830	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Silent_p.L364L|SH3BP1_uc003ath.1_Silent_p.L364L|SH3BP1_uc003atj.1_Silent_p.L300L|SH3BP1_uc003atk.1_Silent_p.L278L|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	364	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTTCGACCTCTATGATGACT	0.627000														261			10		0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278557	94278557	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94278557G>T	uc001pez.3	+	0	1541	c.1258G>T	c.(1258-1260)Gat>Tat	p.D420Y	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	420					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCAGCACCTGGATTATATCAC	0.667000														100			33		2.08457e-15	2.46654e-15	1	1	0
NPAS3	64067	broad.mit.edu	37	14	34269138	34269138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:34269138C>T	uc001wru.3	+	11	1689	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	NPAS3_uc001wrs.3_Missense_Mutation_p.A529V|NPAS3_uc001wrv.3_Missense_Mutation_p.A512V|NPAS3_uc001wrt.3_Missense_Mutation_p.A510V	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	542					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACCCCAAGGCGGGCGAGGAC	0.632000														114			24		0	0	1	0	0
CCDC8	83987	broad.mit.edu	37	19	46915898	46915898	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46915898C>T	uc002pep.3	-	0	1022	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	57						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		ctccatgatgcgggccacgtc	0.642000														183			42		0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102107909	102107909	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102107909G>A	uc003uzn.3	+	3	694	c.556G>A	c.(556-558)Gag>Aag	p.E186K	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	186					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GTCCCTCAGCGAGTTCACCCA	0.622000											OREG0018231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			15		0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51493563	51493563	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51493563C>A	uc001rxw.3	-	12	1873	c.1152_splice	c.e12-1	p.R384_splice	TFCP2_uc001rxv.2_Splice_Site_p.R384_splice|TFCP2_uc009zlx.2_Splice_Site_p.R333_splice|TFCP2_uc009zly.1_Splice_Site_p.R286_splice	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	384	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ACGCACCATCCTAAGGGGAGG	0.413000														85			26		1.42536e-11	1.62618e-11	1	1	0
ADD3	120	broad.mit.edu	37	10	111877175	111877175	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:111877175A>G	uc001kyu.3	+	4	718	c.562A>G	c.(562-564)Aat>Gat	p.N188D	ADD3_uc001kyt.4_Missense_Mutation_p.N188D|ADD3_uc001kys.4_Missense_Mutation_p.N188D|ADD3_uc001kyv.3_Missense_Mutation_p.N188D|ADD3_uc001kyw.3_Missense_Mutation_p.N188D	NM_016824	NP_058432	Q9UEY8	ADDG_HUMAN	Homo sapiens adducin 3 (gamma) (ADD3), transcript variant 1, mRNA.	188						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TACAGCCTCCAATTTGGTATA	0.368000														29			10		0	0	1	0	0
TBC1D25	4943	broad.mit.edu	37	X	48418517	48418517	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48418517C>T	uc011mmb.1	+	5	1319	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y	TBC1D25_uc004dka.1_Silent_p.Y407Y|TBC1D25_uc011mly.1_Silent_p.Y349Y|TBC1D25_uc004dkb.1_Silent_p.Y153Y|TBC1D25_uc011mlz.1_Silent_p.Y153Y|TBC1D25_uc011mma.1_Silent_p.Y153Y|TBC1D25_uc004dkc.1_Silent_p.Y153Y|TBC1D25_uc011mmd.1_Silent_p.Y153Y|TBC1D25_uc011mmc.1_Silent_p.Y153Y	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	407	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TCTTCTGTTACCGCTGGCTGC	0.557000														39			9		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63113959	63113959	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:63113959C>T	uc001daq.3	-	5	584	c.550G>A	c.(550-552)Gat>Aat	p.D184N	DOCK7_uc001dan.3_Missense_Mutation_p.D76N|DOCK7_uc001dao.3_Missense_Mutation_p.D76N|DOCK7_uc001dap.3_Missense_Mutation_p.D184N|DOCK7_uc009wah.1_Missense_Mutation_p.D184N	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	184					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGGGTATCATCTATTGACATT	0.318000														71			23		0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289427	74289427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74289427C>T	uc002jrd.1	-	3	1063	c.883G>A	c.(883-885)Gac>Aac	p.D295N	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	295							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCATGTTGGTCTGTGCTAGGT	0.498000														182			34		0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33885712	33885712	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:33885712G>T	uc003cfx.3	+	10	1623	c.1468G>T	c.(1468-1470)Gca>Tca	p.A490S	PDCD6IP_uc003cfy.3_Missense_Mutation_p.A495S|PDCD6IP_uc011axw.2_Missense_Mutation_p.A271S	NM_013374	NP_037506	Q8WUM4	PDC6I_HUMAN	Homo sapiens programmed cell death 6 interacting protein (PDCD6IP), transcript variant 1, mRNA.	490	Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GCCTTTAAGAGCAGGTAAAAA	0.338000														68			11		6.40141e-05	6.6609e-05	1	1	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150440033	150440033	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150440033A>G	uc022apw.1	+	5	1558	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.Y269C	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AACTGGGCATACAAGGCGCTC	0.453000														106			19		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287933	62287933	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62287933C>T	uc001ntl.3	-	4	14256	c.13956G>A	c.(13954-13956)atG>atA	p.M4652I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4652					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACTTTGGGCATTTTTAGGT	0.537000														496			87		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98350016	98350016	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98350016C>T	uc002syd.1	+	7	1054	c.847C>T	c.(847-849)Cga>Tga	p.R283*	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Nonsense_Mutation_p.R173*|ZAP70_uc002syf.1_5'Flank	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	283	Interdomain B.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCCTCAGAGACGAATCGACAC	0.612000														212			20		0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158627401G>A	uc001fst.1	-	18	2870	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	891					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463000														239			80		0	0	1	0	0
GPX2	2877	broad.mit.edu	37	14	65409265	65409265	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:65409265G>A	uc021ruq.1	-	0	267	c.180C>T	c.(178-180)cgC>cgT	p.R60R	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	60					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GGACCACCAGGCGCCTGGGAA	0.587000														174			31		0	0	1	0	0
CUL4B	8450	broad.mit.edu	37	X	119674407	119674407	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:119674407C>A	uc004esw.3	-	12	1945	c.1508G>T	c.(1507-1509)aGc>aTc	p.S503I	CUL4B_uc010nqq.3_Missense_Mutation_p.S202I|CUL4B_uc004esv.3_Missense_Mutation_p.S485I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	503					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACAATAGTGCTGCCAAATGC	0.294000														31			10		1.76689e-08	1.93511e-08	1	1	0
ABCB1	5243	broad.mit.edu	37	7	87174266	87174266	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:87174266C>A	uc003uiz.2	-	16	2430	c.1937G>T	c.(1936-1938)aGt>aTt	p.S646I	ABCB1_uc011khc.2_Missense_Mutation_p.S582I	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	646					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ATCAATTTCACTTTTGGATTC	0.363000														68			12		0.000978159	0.0010017	1	1	0
MAPK7	5598	broad.mit.edu	37	17	19283132	19283132	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19283132C>T	uc002gvn.3	+	2	656	c.270C>T	c.(268-270)ttC>ttT	p.F90F	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Intron|MAPK7_uc002gvq.3_Silent_p.F90F|MAPK7_uc002gvp.3_Silent_p.F90F	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	90	Protein kinase.|Required for binding to MAP2K5 (By similarity).				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	p.F90F(2)		autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTAATGCTTTCGATGTGGTGA	0.527000														153			30		0	0	1	0	0
SUV420H2	84787	broad.mit.edu	37	19	55857588	55857588	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55857588C>A	uc002qkj.4	+	6	826	c.578C>A	c.(577-579)cCt>cAt	p.P193H	SUV420H2_uc002qkl.3_Missense_Mutation_p.P78H	NM_032701	NP_116090	Q86Y97	SV422_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 2 (Drosophila) (SUV420H2), mRNA.	193	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGTTTGTGCCTGCAGATGGG	0.667000														156			38		2.6416e-12	3.04365e-12	1	1	0
PDIA3P	171423	broad.mit.edu	37	1	146650411	146650411	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146650411T>G	uc001epg.1	+	0	982	c.719T>G	c.(718-720)aTt>aGt	p.I240S						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		CAGGAAAACATTTTTGGTATC	0.378000														67			17		0	0	1	0	0
CCBP2	1238	broad.mit.edu	37	3	42906716	42906716	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42906716G>T	uc003cme.3	+	2	900	c.722G>T	c.(721-723)aGg>aTg	p.R241M	CCBP2_uc003cmf.3_Missense_Mutation_p.R241M|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Missense_Mutation_p.R241M	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	241					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GTGAGGCTGAGGCCCGCAGGC	0.537000														294			70		7.45626e-27	9.33031e-27	1	1	0
PLA2G3	50487	broad.mit.edu	37	22	31535981	31535981	+	Silent	SNP	C	T	T	rs149748193	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31535981C>T	uc003aka.3	-	0	489	c.360G>A	c.(358-360)gcG>gcA	p.A120A		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	120					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TCTCCTCAAGCGCTCGGCATG	0.637000														97			19		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21639415	21639415	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:21639415A>C	uc003svc.3	+	14	2709	c.2678A>C	c.(2677-2679)aAg>aCg	p.K893T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	893	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAAATAGGAAGCTCTTCAAA	0.338000									Kartagener syndrome					20			3		0	0	1	0	0
FZD2	2535	broad.mit.edu	37	17	42635747	42635747	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42635747G>A	uc002igx.2	+	0	936	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	231					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCGCGGCCCGATGGTTCCAT	0.617000														125			21		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086760	144086760	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144086760C>A	uc010khi.3	+	5	1256	c.1057C>A	c.(1057-1059)Ctt>Att	p.L353I	PHACTR2_uc003qjq.4_Missense_Mutation_p.L342I|PHACTR2_uc010khh.3_Missense_Mutation_p.L262I|PHACTR2_uc003qjr.4_Missense_Mutation_p.L273I	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	342							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCTCTCCCTCTTGAGGATCA	0.582000														152			34		8.16721e-17	9.7615e-17	1	1	0
CPS1	1373	broad.mit.edu	37	2	211481151	211481151	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211481151T>A	uc010fur.3	+	21	2673	c.2591T>A	c.(2590-2592)aTt>aAt	p.I864N	CPS1_uc002vee.4_Missense_Mutation_p.I858N|CPS1_uc010fus.3_Missense_Mutation_p.I407N|CPS1-IT1_uc002vef.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	858					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.L864I(2)|p.S863S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGGCAGGCCATTGATGACAAC	0.358000														121			23		0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869208	201869208	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201869208C>A	uc021phl.1	-	1	1181	c.933G>T	c.(931-933)gaG>gaT	p.E311D	LMOD1_uc021phm.1_Missense_Mutation_p.E311D|LMOD1_uc010ppu.2_Missense_Mutation_p.E260D	NM_012134	NP_036266	P29536	LMOD1_HUMAN	Homo sapiens leiomodin 1 (smooth muscle) (LMOD1), mRNA.	311					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	p.E311K(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAGCTGCCTCCTCCTCCACCT	0.537000														61			22		4.35082e-09	4.81328e-09	1	1	0
CCDC167	154467	broad.mit.edu	37	6	37452903	37452903	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37452903T>C	uc003ont.3	-	1	171	c.110A>G	c.(109-111)cAc>cGc	p.H37R		NM_138493	NP_612502	Q9P0B6	CF129_HUMAN	Homo sapiens coiled-coil domain containing 167 (CCDC167), mRNA.	37						integral to membrane		p.H37H(1)		endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6						CTCCCGGCTGTGGAGTCTGGA	0.637000														129			18		0	0	1	0	0
TMEM39A	55254	broad.mit.edu	37	3	119156786	119156786	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:119156786G>A	uc003eck.1	-	5	1103	c.740C>T	c.(739-741)tCg>tTg	p.S247L	TMEM39A_uc003ecl.1_Missense_Mutation_p.S95L	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	Homo sapiens transmembrane protein 39A (TMEM39A), mRNA.	247			S -> L (in a breast cancer sample; somatic mutation).			integral to membrane		p.S247L(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		TTCTTTTAGCGACTCCAGCAA	0.483000														82			21		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516509	140516509	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516509G>A	uc003liq.3	+	0	1710	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	498	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.R498R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCACACCTGCGCCTCGCCTCC	0.667000														427			105		0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100394	27100394	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27100394G>T	uc003niv.3	-	0	182	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	HIST1H2BJ_uc003niu.1_Non-coding_Transcript|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	46					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						ACCTGCTTCAGAACCTTGTAC	0.537000														378			74		1.64915e-30	2.07716e-30	1	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170780	207170780	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207170780C>T	uc002vbp.2	+	4	1778	c.1528C>T	c.(1528-1530)Caa>Taa	p.Q510*		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	510							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGACTACCCCCAACAATCTGT	0.413000														86			12		0	0	1	0	0
ENTPD5	957	broad.mit.edu	37	14	74433689	74433689	+	Missense_Mutation	SNP	G	A	A	rs149673221	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74433689G>A	uc010tuo.2	-	15	1540	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M	ENTPD5_uc001xpi.3_Intron	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	410					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		GGCCCAGCCCGTCTCTATGTT	0.498000														125			31		0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89758374	89758374	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89758374G>T	uc002bnl.3	-	5	822	c.442C>A	c.(442-444)Ctc>Atc	p.L148I		NM_000326	NP_000317	P12271	RLBP1_HUMAN	Homo sapiens retinaldehyde binding protein 1 (RLBP1), mRNA.	148	CRAL-TRIO.				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CGACTAGAGAGGACACCAGGG	0.542000														204			50		4.86159e-25	6.05492e-25	1	1	0
BEST4	266675	broad.mit.edu	37	1	45253349	45253349	+	Missense_Mutation	SNP	G	A	A	rs16832247		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45253349G>A	uc001cmm.3	-	0	78	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_153274	NP_695006	Q8NFU0	BEST4_HUMAN	Homo sapiens bestrophin 4 (BEST4), mRNA.	10						chloride channel complex|plasma membrane	chloride channel activity			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)					GCGGGCCTCCGCCACTTTGAG	0.572000														167			20		0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124800860	124800860	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124800860C>T	uc001lhb.3	+	4	763	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	ACADSB_uc010qub.2_Missense_Mutation_p.L114F	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	216					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GCACGCAGGGCTCTTTCTGGT	0.398000														181			40		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128366289	128366289	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128366289C>T	uc002top.3	+	21	2703	c.2650C>T	c.(2650-2652)Ctg>Ttg	p.L884L		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	884	IQ 6.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCAGGCGCCGCTGGTCATCCC	0.657000														55			17		0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109181823	109181823	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109181823G>A	uc001tnm.3	-	14	3178	c.3091C>T	c.(3091-3093)Cca>Tca	p.P1031S	SSH1_uc001tnl.3_Missense_Mutation_p.P719S	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	1031	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTCCCTGATGGTTTGGAGGTT	0.562000														220			51		0	0	1	0	0
CASP5	838	broad.mit.edu	37	11	104872894	104872894	+	Missense_Mutation	SNP	C	T	T	rs142438968		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104872894C>T	uc010ruz.1	-	4	649	c.617G>A	c.(616-618)cGc>cAc	p.R206H	CASP5_uc010rva.1_Missense_Mutation_p.R193H|CASP5_uc010rvb.1_Missense_Mutation_p.R135H|CASP5_uc010rvc.1_Missense_Mutation_p.R51H|CASP5_uc009yxh.2_5'UTR|CASP5_uc010rvd.1_5'UTR	NM_001136112	NP_001129584	P51878	CASP5_HUMAN	Homo sapiens caspase 5, apoptosis-related cysteine peptidase (CASP5), transcript variant f, mRNA.	193					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GAGAGCCAGGCGTCTGCGGTC	0.483000														148			27		0	0	1	0	0
NRP2	8828	broad.mit.edu	37	2	206592644	206592644	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:206592644G>A	uc002vaw.3	+	6	1811	c.1020G>A	c.(1018-1020)acG>acA	p.T340T	NRP2_uc002vat.3_Silent_p.T340T|NRP2_uc002vau.3_Silent_p.T340T|NRP2_uc002vav.3_Silent_p.T340T|NRP2_uc002vax.3_Silent_p.T340T|NRP2_uc002vay.3_Silent_p.T340T|NRP2_uc010fud.3_Silent_p.T340T	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	340	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T340T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCATGCTCACGGCCATCGCAA	0.502000														57			16		0	0	1	0	0
TCEB2	6923	broad.mit.edu	37	16	2822078	2822078	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2822078G>A	uc002crn.3	-	3	327	c.270C>T	c.(268-270)atC>atT	p.I90I	TCEB2_uc002crm.3_Silent_p.I90I	NM_007108	NP_009039	Q15370	ELOB_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) (TCEB2), transcript variant 1, mRNA.	90					positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding	p.I90I(2)		endometrium(2)|prostate(1)	3						AAAACGGCTCGATGCACAGGG	0.612000														74			5		0	0	1	0	0
TAF5L	27097	broad.mit.edu	37	1	229738419	229738419	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229738419G>A	uc001htq.3	-	3	661	c.495C>T	c.(493-495)gtC>gtT	p.V165V	TAF5L_uc001htr.3_Silent_p.V165V	NM_014409	NP_055224	O75529	TAF5L_HUMAN	Homo sapiens TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF5L), transcript variant 1, mRNA.	165					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGAGACGGACCACGTACT	0.463000														227			19		0	0	1	0	0
TMEM147	10430	broad.mit.edu	37	19	36037431	36037431	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36037431C>T	uc002oaj.2	+	2	291	c.151C>T	c.(151-153)Ctg>Ttg	p.L51L	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Silent_p.L2L|TMEM147_uc021usr.1_Silent_p.L51L	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	51						endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCTCAGATGCTGTTCTTGGC	0.537000														84			15		0	0	1	0	0
C21orf62	56245	broad.mit.edu	37	21	34166106	34166106	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34166106G>A	uc021wik.1	-	0	627	c.627C>T	c.(625-627)agC>agT	p.S209S	C21orf49_uc002yqs.3_Intron|C21orf49_uc002yqu.4_Intron|C21orf49_uc002yqt.3_Intron|C21orf62_uc010glz.3_Silent_p.S209S|C21orf62_uc011adt.2_Silent_p.S209S|C21orf62_uc011adu.2_Silent_p.S209S	NM_019596	NP_062542	Q9NYP8	CU062_HUMAN	Homo sapiens chromosome 21 open reading frame 62 (C21orf62), transcript variant 2, mRNA.	209										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				AGCTTTTGTTGCTTGGCATTG	0.378000														106			37		0	0	1	0	0
FAM160B1	57700	broad.mit.edu	37	10	116595962	116595962	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116595962C>T	uc001lcb.3	+	4	814	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM160B1_uc001lcc.3_Missense_Mutation_p.A160V	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN	Homo sapiens family with sequence similarity 160, member B1 (FAM160B1), transcript variant 1, mRNA.	160										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ATTGTGTGTGCGAAGCTGAAA	0.338000														252			48		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50944481	50944481	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50944481C>T	uc003blp.2	-	4	788	c.757G>A	c.(757-759)Gct>Act	p.A253T	LMF2_uc003blo.2_Missense_Mutation_p.A228T|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	253						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TAGAAAGCAGCCAAGCGCAGG	0.652000														19			5		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114257193	114257193	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114257193C>T	uc003ibe.4	+	29	3671	c.3571C>T	c.(3571-3573)Cgg>Tgg	p.R1191W	ANK2_uc003ibd.4_Missense_Mutation_p.R1182W|ANK2_uc003ibf.4_Missense_Mutation_p.R1191W|ANK2_uc011cgc.2_Missense_Mutation_p.R367W|ANK2_uc003ibg.4_Missense_Mutation_p.R186W|ANK2_uc003ibc.2_Missense_Mutation_p.R1167W|ANK2_uc011cgb.1_Missense_Mutation_p.R1206W	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1158					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.R1191W(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACTCACCAAGCGGATCCGCGT	0.507000														169			15		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176820710	176820710	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176820710T>C	uc003mgk.4	+	8	1056	c.952T>C	c.(952-954)Tcc>Ccc	p.S318P		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	318					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCTCCATGTCCAGAGCAGA	0.557000														148			10		0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127318161	127318161	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127318161G>A	uc003ejp.3	+	2	64	c.7_splice	c.e2-1	p.E3_splice	MCM2_uc011bkm.2_Splice_Site|MCM2_uc010hsl.3_Splice_Site	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	3	Interaction with MYST2 (By similarity).				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TCTCTTGCAGGAATCATCGGA	0.572000														536			106		0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57068112	57068112	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57068112C>T	uc021tiu.1	+	11	2703	c.2576C>T	c.(2575-2577)gCg>gTg	p.A859V	NLRC5_uc010ccq.1_Non-coding_Transcript|NLRC5_uc021tiv.1_Missense_Mutation_p.A664V|NLRC5_uc021tiw.1_Missense_Mutation_p.A664V|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	859					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)				GTCCACGATGCGGAGGCCCTC	0.622000														60			8		0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2790603	2790603	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2790603G>A	uc002lwj.3	+	1	356	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	67					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCAAGGCGCTGGCCGATG	0.652000														103			14		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	420737	420737	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:420737G>A	uc001lpi.2	-	17	1699	c.1614C>T	c.(1612-1614)ttC>ttT	p.F538F	ANO9_uc001lph.2_Silent_p.F231F|ANO9_uc010qvv.1_Silent_p.F394F	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	538						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAACTCGTCGAACAGGCTGA	0.706000														56			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2800060	2800060	+	Missense_Mutation	SNP	G	A	A	rs78595521		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:2800060G>A	uc022aqr.1	-	68	10859	c.10469C>T	c.(10468-10470)gCt>gTt	p.A3490V	CSMD1_uc011kwj.2_Missense_Mutation_p.A2805V|CSMD1_uc010lrg.3_Missense_Mutation_p.A1382V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3491						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)		CAGAATGGCAGCCGCCACAGA	0.408000														29			8		0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127542554	127542554	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127542554G>A	uc001ljf.1	-	3	1559	c.1068C>T	c.(1066-1068)atC>atT	p.I356I	DHX32_uc001lje.1_5'UTR|DHX32_uc001ljg.1_Silent_p.I356I|DHX32_uc009yam.1_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	356						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CACCCACATCGATAACAAATC	0.378000														112			27		0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39805339	39805339	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39805339A>G	uc002okw.2	-	0	638	c.638T>C	c.(637-639)gTc>gCc	p.V213A		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	213						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTCCAGACGGACCAGCTTGTG	0.652000														61			9		0	0	1	0	0
ZNF677	342926	broad.mit.edu	37	19	53741328	53741328	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53741328C>T	uc002qbg.1	-	4	803	c.652G>A	c.(652-654)Gag>Aag	p.E218K	ZNF677_uc002qbf.1_Missense_Mutation_p.E218K	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATAGACTTCTCAACTGGATTA	0.338000														64			14		0	0	1	0	0
RASGEF1A	221002	broad.mit.edu	37	10	43694616	43694616	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43694616G>A	uc001jao.1	-	7	985	c.900C>T	c.(898-900)cgC>cgT	p.R300R	RASGEF1A_uc001jap.1_Silent_p.R292R	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN	Homo sapiens RasGEF domain family, member 1A (RASGEF1A), mRNA.	292	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						ACTCCAACATGCGGGTCCGGT	0.607000														45			10		0	0	1	0	0
MAPK11	5600	broad.mit.edu	37	22	50705581	50705581	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50705581G>T	uc003bkr.3	-	5	528	c.470C>A	c.(469-471)gCt>gAt	p.A157D	MAPK11_uc010hay.1_Non-coding_Transcript|MAPK11_uc011art.1_Silent_p.G137G|MAPK11_uc010haz.2_Missense_Mutation_p.A49D	NM_002751	NP_002742	Q15759	MK11_HUMAN	Homo sapiens mitogen-activated protein kinase 11 (MAPK11), mRNA.	157	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGTTCACAGCCACGTTGCT	0.706000														64			15		9.16793e-09	1.00855e-08	1	1	0
MLL2	8085	broad.mit.edu	37	12	49435265	49435265	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49435265C>A	uc001rta.4	-	30	6288	c.6288G>T	c.(6286-6288)aaG>aaT	p.K2096N		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2096					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTCGGTCAGTCTTACGGGCTA	0.657000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				173			23		6.21321e-17	7.43302e-17	1	1	0
TRUB2	26995	broad.mit.edu	37	9	131083973	131083973	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131083973C>T	uc004buq.1	-	1	156	c.146G>A	c.(145-147)cGt>cAt	p.R49H	COQ4_uc011max.1_5'Flank|COQ4_uc004bur.4_5'Flank|COQ4_uc010mxy.3_5'Flank	NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	49					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCGAACACGCTGTTTAGG	0.463000														94			22		0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100976376	100976376	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:100976376T>C	uc003duq.2	-	9	1353	c.1150A>G	c.(1150-1152)Aat>Gat	p.N384D	IMPG2_uc011bhe.2_Missense_Mutation_p.N247D	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	384					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACTCACCATTGATAAGCTGC	0.373000														162			34		0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43882434	43882434	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43882434G>A	uc009xmh.1	-	2	1386	c.899C>T	c.(898-900)gCg>gTg	p.A300V	HNRNPF_uc001jar.2_Missense_Mutation_p.A300V|HNRNPF_uc001jas.2_Missense_Mutation_p.A300V|HNRNPF_uc001jat.2_Missense_Mutation_p.A300V|HNRNPF_uc001jav.2_Missense_Mutation_p.A300V|HNRNPF_uc001jau.2_Missense_Mutation_p.A300V|HNRNPF_uc021ppg.1_Missense_Mutation_p.A300V|HNRNPF_uc010qfa.1_Missense_Mutation_p.R39H	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	300	RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTCGGTCGCTTTGTACGG	0.522000														122			23		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17841237	17841237	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:17841237G>A	uc003stv.3	-	21	2485	c.2272C>T	c.(2272-2274)Cga>Tga	p.R758*	SNX13_uc010kuc.3_Nonsense_Mutation_p.R555*|SNX13_uc003stw.1_Nonsense_Mutation_p.R769*|SNX13_uc010kub.3_Nonsense_Mutation_p.R164*	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	769					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCCGAAACTCGGCGATGTTCA	0.338000														24			3		0	0	1	0	0
KIAA0430	9665	broad.mit.edu	37	16	15718648	15718648	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15718648C>T	uc002ddr.3	-	9	2455	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T	KIAA0430_uc002ddq.3_Missense_Mutation_p.A606T|KIAA0430_uc010uzv.2_Missense_Mutation_p.A747T|KIAA0430_uc010uzw.2_Missense_Mutation_p.A749T	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	749						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						GACTGAGATGCGAGCAGAGGA	0.428000														168			14		0	0	1	0	0
HOXA1	3198	broad.mit.edu	37	7	27135377	27135377	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135377C>T	uc003sye.3	-	0	249	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HOXA1_uc003syd.3_Missense_Mutation_p.R52H|HOXA1_uc022aao.1_Missense_Mutation_p.R52H|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	52						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTAGGAAGCGGTCGTCGCC	0.662000											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		222			42		0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56935478	56935478	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56935478G>T	uc010ygl.1	+	4	1616	c.1451G>T	c.(1450-1452)aGa>aTa	p.R484I	ZNF583_uc002qnc.2_Missense_Mutation_p.R484I|ZNF583_uc010ygm.1_Missense_Mutation_p.R484I	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAACATCAGAGAATTCATACT	0.383000														104			23		1.10923e-09	1.2355e-09	1	1	0
OR52B6	340980	broad.mit.edu	37	11	5602224	5602224	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5602224C>T	uc010qzi.2	+	0	118	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCCCTGGGCTGGAGCAACT	0.507000														104			21		0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6091159	6091159	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6091159C>A	uc002wmr.3	-	5	1322	c.533_splice	c.e5-1	p.V178_splice	FERMT1_uc010gbt.3_Intron|FERMT1_uc002wms.3_Splice_Site_p.V178_splice|FERMT1_uc002wmt.3_5'Flank	NM_017671	NP_060141	Q9BQL6	FERM1_HUMAN	Homo sapiens fermitin family member 1 (FERMT1), mRNA.	178	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CCAGGACTTACTGCAAGGCAG	0.383000														165			43		5.44703e-19	6.60141e-19	1	1	0
CLEC12B	387837	broad.mit.edu	37	12	10168306	10168306	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:10168306C>A	uc001qwz.2	+	4	788	c.660C>A	c.(658-660)ggC>ggA	p.G220G	CLEC12B_uc001qwx.2_Silent_p.G220G|CLEC12B_uc001qwy.2_Silent_p.G117G|CLEC12B_uc009zhe.2_Non-coding_Transcript	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN	Homo sapiens C-type lectin domain family 12, member B (CLEC12B), transcript variant 1, mRNA.	220	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						GGGAAGATGGCTCTGTTCCCT	0.408000														125			33		3.90053e-15	4.60698e-15	1	1	0
HSPA8	3312	broad.mit.edu	37	11	122930388	122930388	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122930388G>T	uc001pyo.3	-	4	1048	c.913C>A	c.(913-915)Ctg>Atg	p.L305M	HSPA8_uc009zbc.3_Missense_Mutation_p.L69M|HSPA8_uc001pyp.3_Missense_Mutation_p.L305M|HSPA8_uc010rzu.2_Missense_Mutation_p.L228M|HSPA8_uc009zbd.2_Missense_Mutation_p.L305M	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	305	Interaction with BAG1.				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCAGCATTCAGTTCTTCAAAT	0.498000														80			15		6.81908e-15	8.04059e-15	1	1	0
SHISA3	152573	broad.mit.edu	37	4	42403101	42403101	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403101C>T	uc003gwp.3	+	1	568	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	117					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TCTGTAGTGGCTATTTATTGT	0.512000														450			112		0	0	1	0	0
TCEA2	6919	broad.mit.edu	37	20	62701711	62701711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62701711C>T	uc021wgq.1	+	6	1272	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	TCEA2_uc021wgp.1_Missense_Mutation_p.R179W	NM_003195	NP_942016	Q15560	TCEA2_HUMAN	Homo sapiens transcription elongation factor A (SII), 2 (TCEA2), transcript variant 1, mRNA.	206	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGACCTGCGGCGGAATGTGCT	0.582000														136			26		0	0	1	0	0
ZNF225	7768	broad.mit.edu	37	19	44636174	44636174	+	Silent	SNP	G	A	A	rs145291466	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44636174G>A	uc002oyj.1	+	4	1650	c.1407G>A	c.(1405-1407)tcG>tcA	p.S469S	ZNF225_uc010ejf.1_Silent_p.S469S	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	Homo sapiens zinc finger protein 225 (ZNF225), mRNA.	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GCTGGGCCTCGTGTCTTTTGA	0.413000														111			29		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216729	154216729	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216729G>A	uc003inh.2	+	5	1136	c.1051G>A	c.(1051-1053)Gtt>Att	p.V351I	TRIM2_uc003ing.2_Missense_Mutation_p.V324I	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	324						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACCAACGCCGTTGCCTCAGA	0.607000														79			28		0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141384674	141384674	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141384674G>A	uc003lmf.4	-	3	1176	c.417C>T	c.(415-417)ggC>ggT	p.G139G	GNPDA1_uc003lmg.4_Silent_p.G139G|GNPDA1_uc010jgh.3_Silent_p.G139G|GNPDA1_uc003lmh.4_Silent_p.G105G	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	139					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCATCAGGGCCGATGCCTA	0.557000														50			8		0	0	1	0	0
TRIM56	81844	broad.mit.edu	37	7	100730929	100730929	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730929C>T	uc003uxq.3	+	2	567	c.336C>T	c.(334-336)acC>acT	p.T112T	TRIM56_uc003uxr.3_Silent_p.T112T|TRIM56_uc022aiw.1_Silent_p.T112T	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	112					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACCAGCACCGGGGGGCCGG	0.726000														130			34		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880369	82880369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82880369C>T	uc001ozx.4	+	7	3337	c.2992C>T	c.(2992-2994)Cct>Tct	p.P998S	PCF11_uc010rsu.1_Missense_Mutation_p.P1129S	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	998	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTTTGAAGGCCCTTTAGTCCA	0.512000														78			19		0	0	1	0	0
PIK3R3	8503	broad.mit.edu	37	1	46509480	46509480	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46509480C>T	uc010olw.2	-	9	1406	c.1389G>A	c.(1387-1389)gaG>gaA	p.E463E	PIK3R3_uc001cpb.4_Silent_p.E417E|PIK3R3_uc009vyb.3_Silent_p.E358E|PIK3R3_uc009vyc.3_Silent_p.E434E|PIK3R3_uc001cpc.4_Silent_p.E417E|PIK3R3_uc010olv.2_Silent_p.E207E	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	417					T cell costimulation|insulin receptor signaling pathway|platelet activation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GGTTGTAGGGCTCTGCAAAGC	0.527000														46			11		0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41466775	41466775	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:41466775G>A	uc001cgk.4	+	9	1588	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	CTPS1_uc010ojo.2_Silent_p.K129K|CTPS1_uc001cgl.4_Silent_p.K360K|CTPS1_uc010ojq.2_Silent_p.K204K	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	360	Glutamine amidotransferase type-1.				CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	CTTGGCAGAAGCTCTGTAGTG	0.478000														55			22		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526255	52526255	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52526255G>A	uc003ded.4	+	20	4406	c.4272G>A	c.(4270-4272)caG>caA	p.Q1424Q	NISCH_uc003dee.4_Silent_p.Q913Q|NISCH_uc003deg.1_Intron	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1424					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGGGCTACCAGACCTACCCGC	0.652000														406			99		0	0	1	0	0
CCDC42	146849	broad.mit.edu	37	17	8638511	8638511	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8638511A>G	uc002gln.3	-	5	1003	c.776T>C	c.(775-777)aTt>aCt	p.I259T	CCDC42_uc002glo.3_Missense_Mutation_p.I185T	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	259										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GGCCATCTTAATGGTGCCAAG	0.572000														133			6		0	0	1	0	0
TMEM95	339168	broad.mit.edu	37	17	7259562	7259562	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7259562G>A	uc002ggg.1	+	4	403	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	TMEM95_uc002ggf.1_Missense_Mutation_p.V134M|TMEM95_uc002ggh.1_Missense_Mutation_p.V126M			Q3KNT9	TMM95_HUMAN	Homo sapiens transmembrane protein 95 (TMEM95), mRNA.	126						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				GGGGACGGAGGTGTCCTGCTG	0.687000											OREG0024137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			29		0	0	1	0	0
KDM2A	22992	broad.mit.edu	37	11	67018039	67018039	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67018039G>A	uc001ojw.3	+	16	3402	c.2538G>A	c.(2536-2538)caG>caA	p.Q846Q	KDM2A_uc001ojx.3_Intron|KDM2A_uc001ojy.3_Silent_p.Q540Q|KDM2A_uc010rpn.2_Silent_p.Q407Q|KDM2A_uc001ojz.1_Silent_p.Q304Q|KDM2A_uc001oka.3_5'Flank	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	846					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						GAACCCCCCAGCGTGGggatg	0.652000														81			16		0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59560935	59560935	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59560935T>C	uc001nog.3	+	7	1170	c.623T>C	c.(622-624)aTc>aCc	p.I208T	STX3_uc010rkx.2_Missense_Mutation_p.I208T|STX3_uc010rky.2_Missense_Mutation_p.I111T|STX3_uc009ymt.1_Missense_Mutation_p.I111T	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	208	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	SNARE complex|apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|specific granule	SNAP receptor activity|arachidonic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GAGAGCAGCATCAAGGAGCTT	0.527000														94			15		0	0	1	0	0
OR5C1	392391	broad.mit.edu	37	9	125551396	125551396	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:125551396C>T	uc011lzd.2	+	0	185	c.185C>T	c.(184-186)cCt>cTt	p.P62L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						CTCCACACACCTATGTACTTC	0.627000														277			48		0	0	1	0	0
ANKRD13A	88455	broad.mit.edu	37	12	110450942	110450942	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:110450942C>T	uc001tpx.3	+	2	501	c.242C>T	c.(241-243)gCt>gTt	p.A81V	ANKRD13A_uc009zvl.1_Non-coding_Transcript|ANKRD13A_uc009zvm.2_Missense_Mutation_p.A81V|ANKRD13A_uc010sxw.2_Missense_Mutation_p.A81V	NM_033121	NP_149112	Q8IZ07	AN13A_HUMAN	Homo sapiens ankyrin repeat domain 13A (ANKRD13A), mRNA.	81										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TTACATGAGGCTGTGAGCACT	0.433000														79			19		0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60212623	60212623	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60212623C>T	uc001xen.1	-	1	1027	c.818G>A	c.(817-819)aGg>aAg	p.R273K		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	273					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGAGGAGCCCTGCGCTGTTC	0.453000														163			43		0	0	1	0	0
MDK	4192	broad.mit.edu	37	11	46404188	46404188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46404188G>A	uc001nco.3	+	3	518	c.296G>A	c.(295-297)gGc>gAc	p.G99D	MDK_uc009ykz.1_Missense_Mutation_p.G99D|MDK_uc001ncp.3_Missense_Mutation_p.G99D|MDK_uc009yla.3_Missense_Mutation_p.G43D|MDK_uc009ylb.3_Intron|MDK_uc001ncq.3_Missense_Mutation_p.G99D	NM_001012334	NP_002382	P21741	MK_HUMAN	Homo sapiens midkine (neurite growth-promoting factor 2) (MDK), transcript variant 1, mRNA.	99					adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction	extracellular region	growth factor activity|heparin binding			lung(1)	1				GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14)		GGGGGCACAGGCACCAAAGTC	0.657000														49			18		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15841795	15841795	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15841795T>G	uc002ddx.3	-	18	2314	c.2207A>C	c.(2206-2208)gAg>gCg	p.E736A	MYH11_uc002ddv.3_Missense_Mutation_p.E736A|MYH11_uc002ddw.3_Missense_Mutation_p.E729A|MYH11_uc002ddy.3_Missense_Mutation_p.E729A|MYH11_uc010bvg.3_Missense_Mutation_p.E561A	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	729	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCAGGATCTCGTAGCTTGA	0.607000			T	CBFB	AML									156			35		0	0	1	0	0
KIAA0090	23065	broad.mit.edu	37	1	19549260	19549260	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19549260C>A	uc001bbo.3	-	19	2488	c.2445G>T	c.(2443-2445)gaG>gaT	p.E815D	KIAA0090_uc001bbn.3_5'Flank|KIAA0090_uc001bbp.3_Missense_Mutation_p.E814D|KIAA0090_uc001bbq.3_Missense_Mutation_p.E814D|KIAA0090_uc001bbr.3_Missense_Mutation_p.E793D	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	815	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CGTTGTATTGCTCAGTGCCCT	0.602000														118			8		5.18039e-06	5.47662e-06	1	1	0
SLC5A2	6524	broad.mit.edu	37	16	31499495	31499495	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31499495G>T	uc002ecf.4	+	8	1040	c.1021_splice	c.e8+1	p.D341_splice	SLC5A2_uc010car.3_Splice_Site|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	341					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CTGTACCCAGGTAACATCCCT	0.627000														339			70		1.15098e-32	1.45348e-32	1	1	0
PLXNA1	5361	broad.mit.edu	37	3	126710388	126710388	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:126710388G>A	uc003ejg.3	+	1	1356	c.1356G>A	c.(1354-1356)acG>acA	p.T452T		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	452	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGCCGGCACGCGAAGTGGCC	0.672000														52			45		0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67802202	67802202	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:67802202C>A	uc001vik.3	-	1	1063	c.371G>T	c.(370-372)aGg>aTg	p.R124M	PCDH9_uc001vil.3_Missense_Mutation_p.R124M|PCDH9_uc010thl.2_Missense_Mutation_p.R124M|PCDH9_uc001vin.3_Missense_Mutation_p.R124M	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATCAGCCTGAAGAAATC	0.398000														139			7		0.0293803	0.0295844	1	1	0
DPP9	91039	broad.mit.edu	37	19	4690947	4690947	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4690947C>A	uc002mba.3	-	13	1797	c.1539G>T	c.(1537-1539)aaG>aaT	p.K513N		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	484					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CAATCTCTTCCTTAATGGGGC	0.557000														36			9		0.000442599	0.000455268	1	1	0
KRT2	3849	broad.mit.edu	37	12	53044171	53044171	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53044171T>G	uc001sat.3	-	1	785	c.752A>C	c.(751-753)aAt>aCt	p.N251T		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	251	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAGCTCTGAATTCTGTGATGT	0.483000														240			57		0	0	1	0	0
ALKBH5	54890	broad.mit.edu	37	17	18110257	18110257	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18110257G>A	uc010cpw.3	+	2	1671	c.980G>A	c.(979-981)cGc>cAc	p.R327H		NM_017758	NP_060228	Q6P6C2	ALKB5_HUMAN	Homo sapiens alkB, alkylation repair homolog 5 (E. coli) (ALKBH5), mRNA.	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587000														375			87		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129634016	129634016	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:129634016G>A	uc021zfb.1	+	22	3290	c.3185G>A	c.(3184-3186)tGc>tAc	p.C1062Y	LAMA2_uc003qbn.3_Missense_Mutation_p.C1062Y|LAMA2_uc003qbo.3_Missense_Mutation_p.C1062Y	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1062	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTTGTAACTGCAGCACAGTG	0.363000														37			8		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999799	72999799	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72999799A>G	uc002lly.3	+	1	2865	c.2302A>G	c.(2302-2304)Acc>Gcc	p.T768A	TSHZ1_uc021uln.1_Missense_Mutation_p.T768A	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	813						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CATTGACTTAACCAAGTCCAA	0.567000														159			31		0	0	1	0	0
KCTD11	147040	broad.mit.edu	37	17	7256385	7256385	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7256385C>A	uc002gge.4	+	0	1178	c.124C>A	c.(124-126)Ctg>Atg	p.L42M	TMEM95_uc002ggf.1_5'Flank|TMEM95_uc002ggg.1_5'Flank|TMEM95_uc002ggh.1_5'Flank	NM_001002914	NP_001002914	Q693B1	KCD11_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 11 (KCTD11), mRNA.	42	BTB.				cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				TTTCCTGAGGCTGGGCCGCCT	0.662000														66			19		7.07596e-05	7.35997e-05	1	1	0
ODZ4	26011	broad.mit.edu	37	11	78369860	78369860	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78369860G>T	uc001ozl.4	-	34	8015	c.7552_splice	c.e34-1	p.S2518_splice	ODZ4_uc001ozk.4_Splice_Site_p.S743_splice	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2518					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CCCGAGGATAGACTGATGGGG	0.478000														101			25		3.73808e-20	4.55875e-20	1	1	0
ZNF85	7639	broad.mit.edu	37	19	21132044	21132044	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21132044T>C	uc002npg.4	+	3	872	c.724T>C	c.(724-726)Tcc>Ccc	p.S242P	ZNF85_uc010ecn.3_Missense_Mutation_p.S177P|ZNF85_uc010eco.3_Missense_Mutation_p.S190P|ZNF85_uc002npi.3_Missense_Mutation_p.S183P	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTTAACCAGTCCTCAAACCT	0.358000														46			5		0	0	1	0	0
PTPRF	5792	broad.mit.edu	37	1	44070974	44070974	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44070974C>T	uc001cjr.3	+	17	3589	c.3249C>T	c.(3247-3249)agC>agT	p.S1083S	PTPRF_uc001cjs.3_Silent_p.S1074S|PTPRF_uc001cju.3_Silent_p.S461S|PTPRF_uc009vwt.3_Silent_p.S643S|PTPRF_uc001cjv.3_Silent_p.S543S|PTPRF_uc001cjw.3_Silent_p.S309S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1083	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGGCAGCAGCGCAGGGGGCC	0.647000														173			20		0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103611867	103611867	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103611867C>A	uc003hwg.3	-	5	835	c.735G>T	c.(733-735)aaG>aaT	p.K245N	MANBA_uc011ces.2_Missense_Mutation_p.K188N	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	245					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CACCAACTGGCTTTGAGCTGA	0.363000														195			37		1.90571e-15	2.25613e-15	1	1	0
REC8	9985	broad.mit.edu	37	14	24646361	24646361	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24646361G>A	uc001wmr.3	+	8	1063	c.636G>A	c.(634-636)gaG>gaA	p.E212E	REC8_uc001wms.3_Silent_p.E212E	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	212	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GTGAACGGGAGCTCCCAGAGG	0.557000														126			29		0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406257	9406257	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9406257C>A	uc002mlc.1	-	4	1823	c.1823G>T	c.(1822-1824)aGc>aTc	p.S608I		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	Homo sapiens zinc finger protein 699 (ZNF699), mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCCAGTGTGGCTTCTCACATG	0.443000														114			24		2.41591e-17	2.89771e-17	1	1	0
SBK2	646643	broad.mit.edu	37	19	56042645	56042645	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56042645G>A	uc010ygc.2	-	2	336	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	107	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCCCCACACAGAACTCGTACA	0.662000														78			5		0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532772	82532772	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82532772T>G	uc002bgt.1	-	5	672	c.503A>C	c.(502-504)aAt>aCt	p.N168T	EFTUD1_uc002bgu.1_Missense_Mutation_p.N117T	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	168					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTAAAATATTCTTGAGGTG	0.373000														27			3		0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99012701	99012701	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99012701C>A	uc010fij.3	+	7	1221	c.1080C>A	c.(1078-1080)ctC>ctA	p.L360L	CNGA3_uc002syt.3_Silent_p.L356L|CNGA3_uc002syu.3_Silent_p.L338L			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	356					signal transduction|visual perception	integral to membrane	cGMP binding	p.T360T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTTACAGTCTCTACTGGTCCA	0.512000														132			37		1.49673e-21	1.83874e-21	1	1	0
ZNF443	10224	broad.mit.edu	37	19	12542335	12542335	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12542335T>G	uc002mtu.3	-	3	849	c.651A>C	c.(649-651)agA>agC	p.R217S		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	217					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CAGTGTGCGTTCTTTCATGCA	0.398000														174			41		0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027680	87027680	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:87027680C>T	uc003dqn.3	-	1	763	c.399G>A	c.(397-399)tgG>tgA	p.W133*		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		TCTTACCTCGCCATAGGGGGG	0.507000														149			30		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385243	41385243	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41385243G>A	uc002yyq.1	-	32	6209	c.5757C>T	c.(5755-5757)agC>agT	p.S1919S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1919				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCAGGTCCCTGCTGGTGCCTG	0.542000														118			6		0	0	1	0	0
BC035867	0	broad.mit.edu	37	22	20970592	20970592	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20970592C>A	uc002zsv.3	-	8		c.2033G>T								Homo sapiens, clone IMAGE:5171202, mRNA.																		CAGCTCAGCTCTCACCCGGAG	0.557000														27			5		0.014758	0.0149061	1	1	0
ARHGEF10L	55160	broad.mit.edu	37	1	18023551	18023551	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18023551C>T	uc001ban.3	+	28	3675	c.3516C>T	c.(3514-3516)ctC>ctT	p.L1172L	ARHGEF10L_uc001bao.3_Silent_p.L1133L|ARHGEF10L_uc001bap.3_Silent_p.L1128L|ARHGEF10L_uc001baq.3_Silent_p.L933L|ARHGEF10L_uc010ocs.2_Silent_p.L945L|ARHGEF10L_uc001bar.3_Silent_p.L875L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript|ARHGEF10L_uc001bas.3_Silent_p.L196L	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	1172					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGGGCATCCTCTTGCAGTACC	0.701000														48			12		0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1005022	1005022	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1005022C>A	uc002lqo.1	+	2	1522	c.1522C>A	c.(1522-1524)Ctg>Atg	p.L508M		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	508					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTACGGCGCCCTGCGGGACGG	0.687000														120			28		5.61819e-17	6.72451e-17	1	1	0
RSPH4A	345895	broad.mit.edu	37	6	116949186	116949186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116949186G>A	uc003pxe.2	+	2	1461	c.1316G>A	c.(1315-1317)aGa>aAa	p.R439K	RSPH4A_uc010kee.2_Missense_Mutation_p.R439K	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	439					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAACCAGGAAGACCATGGGTG	0.398000									Kartagener syndrome					84			18		0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522699	45522699	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45522699C>A	uc002zea.3	+	21	3556	c.3387C>A	c.(3385-3387)agC>agA	p.S1129R	TRAPPC10_uc010gpo.3_Missense_Mutation_p.S840R|TRAPPC10_uc011afa.2_Missense_Mutation_p.S507R	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1129					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTGGGAAAAGCTGCGGTGTCA	0.592000														262			59		4.88506e-25	6.08345e-25	1	1	0
AFP	174	broad.mit.edu	37	4	74310810	74310810	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:74310810G>T	uc003hgz.1	+	6	861	c.814G>T	c.(814-816)Gga>Tga	p.G272*	AFP_uc011cbg.1_Nonsense_Mutation_p.G46*	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	272	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGTTGCAGAGGAGATGTGCT	0.393000									Alpha-Fetoprotein, Hereditary Persistence of					102			23		2.27525e-19	2.76268e-19	1	1	0
PKP3	11187	broad.mit.edu	37	11	399008	399008	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:399008C>T	uc021qbk.1	+	5	1159	c.1130C>T	c.(1129-1131)gCc>gTc	p.A377V	PKP3_uc001lpc.3_Missense_Mutation_p.A362V	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	362					cell adhesion	desmosome|nucleus	binding	p.V377E(1)		breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGCCTTCAGGCCGTGCCTAGG	0.612000														179			30		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131894	82131894	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:82131894G>A	uc002fgv.3	+	4	1189	c.1017G>A	c.(1015-1017)acG>acA	p.T339T		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	339					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	CCTATTACACGCCAGGGAAAG	0.483000														194			40		0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54117259	54117259	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:54117259A>G	uc002rxp.2	-	36	4334	c.4278T>C	c.(4276-4278)gcT>gcC	p.A1426A	PSME4_uc010yop.1_Silent_p.A1312A|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Silent_p.A801A|PSME4_uc010fbv.1_Silent_p.A570A|PSME4_uc010fbt.1_5'Flank	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1426					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTGCTATACAAGCTCCCCAGT	0.398000														178			55		0	0	1	0	0
HSF2BP	11077	broad.mit.edu	37	21	45064180	45064180	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45064180C>T	uc002zdi.3	-	3	613	c.281G>A	c.(280-282)aGa>aAa	p.R94K	HSF2BP_uc011aey.2_Missense_Mutation_p.R19K	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	94					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		CTTCTTCTCTCTTATGTTGTC	0.483000														94			9		0	0	1	0	0
MUC1	4582	broad.mit.edu	37	1	155160512	155160512	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155160512A>T	uc021pap.1	-	4	1015	c.943T>A	c.(943-945)Ttt>Att	p.F315I	MUC1_uc001fhz.3_Missense_Mutation_p.F11I|MUC1_uc001fhy.3_Missense_Mutation_p.F11I|MUC1_uc010pfb.2_Missense_Mutation_p.F11I|MUC1_uc010pfh.2_Missense_Mutation_p.F157I|MUC1_uc010pff.2_Silent_p.V134V|MUC1_uc010pfi.2_Missense_Mutation_p.F157I|MUC1_uc010pfj.2_Missense_Mutation_p.F181I|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Missense_Mutation_p.F11I|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Missense_Mutation_p.F11I|MUC1_uc010pfg.2_Non-coding_Transcript|MUC1_uc010pfd.2_Silent_p.V78V|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Missense_Mutation_p.F11I|MUC1_uc001fiq.3_Missense_Mutation_p.F11I|MUC1_uc009wqa.3_Missense_Mutation_p.F169I|MUC1_uc010pfn.2_Missense_Mutation_p.F86I|MUC1_uc009wpn.3_Missense_Mutation_p.F95I|MUC1_uc010pfo.2_Silent_p.V78V|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Silent_p.V79V|MUC1_uc010pfp.2_Silent_p.V78V|MUC1_uc001fij.3_Missense_Mutation_p.F95I|MUC1_uc009wqc.3_Missense_Mutation_p.F83I|MUC1_uc009wqd.3_Missense_Mutation_p.F107I|MUC1_uc001fia.3_Missense_Mutation_p.F86I|MUC1_uc009wqb.3_Missense_Mutation_p.F11I|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Missense_Mutation_p.F83I|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Missense_Mutation_p.F11I|MUC1_uc009wpz.3_Missense_Mutation_p.F113I|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Missense_Mutation_p.F104I|MUC1_uc009wpo.3_Missense_Mutation_p.F48I|MUC1_uc010pfr.2_Silent_p.V88V|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Silent_p.V79V|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Silent_p.V79V|MUC1_uc009wpm.3_Missense_Mutation_p.F104I|MUC1_uc009wpk.3_Silent_p.V34V|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Silent_p.V60V|MUC1_uc021paq.1_Missense_Mutation_p.F306I|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Missense_Mutation_p.F60I|MUC1_uc009wps.3_Missense_Mutation_p.F69I|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Missense_Mutation_p.F72I|MUC1_uc009wpq.3_Missense_Mutation_p.F74I|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Silent_p.V60V|MUC1_uc001fib.3_Silent_p.V60V|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1086	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCCCAGAAAACCCCCTTGT	0.532000			T	IGH@	B-NHL									221			61		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62301544	62301544	+	Silent	SNP	G	A	A	rs117532364	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62301544G>A	uc001ntl.3	-	4	645	c.345C>T	c.(343-345)agC>agT	p.S115S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	115					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATCATCCCCGCTCTGCAGAA	0.602000														65			9		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117676803	117676803	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:117676803C>A	uc004eqp.2	+	2	282	c.219_splice	c.e2+1	p.S73_splice		NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	73	Interaction with activated CDC42 (By similarity).				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAGATATATCTGTGAGTTCA	0.403000														186			10		0.00829132	0.00840732	1	1	0
GEMIN4	50628	broad.mit.edu	37	17	648153	648153	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:648153G>A	uc002frs.1	-	1	3249	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	1044					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTTCTTCAGGGCCGATGCCC	0.577000														60			6		0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874186	90874186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90874186G>A	uc003hst.3	+	7	3375	c.3304G>A	c.(3304-3306)Gca>Aca	p.A1102T	MMRN1_uc010iku.3_Missense_Mutation_p.A405T|MMRN1_uc011cds.2_Missense_Mutation_p.A844T	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1102	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACCCATGGTGGCATTTTTTGC	0.348000														87			17		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41384987	41384987	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:41384987A>G	uc002yyq.1	-	32	6465	c.6013T>C	c.(6013-6015)Tac>Cac	p.Y2005H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	2005				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTTGCGTAAGGATTGTTT	0.463000														84			5		0	0	1	0	0
C10orf118	55088	broad.mit.edu	37	10	115887367	115887367	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115887367G>A	uc001lbb.1	-	13	2898	c.2246C>T	c.(2245-2247)gCt>gTt	p.A749V	C10orf118_uc009xyd.1_Missense_Mutation_p.A347V|C10orf118_uc009xye.1_Intron|C10orf118_uc001lbc.1_Missense_Mutation_p.A749V	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	Homo sapiens chromosome 10 open reading frame 118 (C10orf118), mRNA.	749										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		GTTATCCACAGCTACTGAGGA	0.403000														65			10		0	0	1	0	0
PREP	5550	broad.mit.edu	37	6	105726037	105726037	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105726037G>A	uc003prc.3	-	14	2348	c.2115C>T	c.(2113-2115)aaC>aaT	p.N705N		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	705					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TCCAGTCGACGTTCAGGCACC	0.552000														325			69		0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135778026	135778026	+	Missense_Mutation	SNP	C	T	T	rs118203683		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135778026C>T	uc004cca.2	-	17	2591	c.2357G>A	c.(2356-2358)cGa>cAa	p.R786Q	TSC1_uc004ccb.3_Missense_Mutation_p.R785Q|TSC1_uc011mcq.1_Missense_Mutation_p.R735Q|TSC1_uc011mcr.2_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	786					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GAATTCCTCTCGGTCATGCTG	0.527000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis		OREG0019577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			46		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94836365	94836365	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94836365A>G	uc001kil.2	+	5	1109	c.1064A>G	c.(1063-1065)tAc>tGc	p.Y355C	CYP26A1_uc001kik.1_Missense_Mutation_p.Y286C	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	355					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				CAACTTAAATACATCGGGTGT	0.383000														125			27		0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32270272C>A	uc011alu.2	+	35	3779	c.3577C>A	c.(3577-3579)Ctg>Atg	p.L1193M	DEPDC5_uc011als.2_Missense_Mutation_p.L1093M|DEPDC5_uc003als.3_Missense_Mutation_p.L1162M|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.L1184M|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.L611M|DEPDC5_uc003alw.3_Missense_Mutation_p.L460M|DEPDC5_uc011alx.2_Missense_Mutation_p.L10M|DEPDC5_uc010gwk.3_Missense_Mutation_p.L188M|DEPDC5_uc011aly.2_Missense_Mutation_p.L10M	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1162	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572000														31			12		0.010729	0.0108564	1	1	0
PSG3	5671	broad.mit.edu	37	19	43234057	43234057	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43234057C>A	uc002oue.3	-	3	993	c.861G>T	c.(859-861)aaG>aaT	p.K287N	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	287	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CAATGGGTCGCTTTACCCTGG	0.478000														222			65		1.19472e-48	1.52429e-48	1	1	0
S1PR4	8698	broad.mit.edu	37	19	3179636	3179636	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3179636C>T	uc002lxg.3	+	0	901	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	282					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						ACCTCTGGGCCCAGGAGTACC	0.642000														337			39		0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179576866	179576866	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179576866G>A	uc003fki.1	-	7	936	c.806C>T	c.(805-807)gCa>gTa	p.A269V	PEX5L_uc011bqd.1_Missense_Mutation_p.A226V|PEX5L_uc011bqe.1_Missense_Mutation_p.A77V|PEX5L_uc011bqf.1_Missense_Mutation_p.A161V|PEX5L_uc003fkj.1_Missense_Mutation_p.A234V|PEX5L_uc010hxd.1_Missense_Mutation_p.A267V|PEX5L_uc011bqg.1_Missense_Mutation_p.A245V|PEX5L_uc011bqh.1_Missense_Mutation_p.A210V	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	269					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCTGCTTTTGCCCTTTCAAA	0.393000														63			11		0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40604155	40604155	+	Missense_Mutation	SNP	T	G	G	rs145677980	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:40604155T>G	uc002yxk.2	-	24	3243	c.2948A>C	c.(2947-2949)aAt>aCt	p.N983T	BRWD1_uc010goc.1_5'UTR|BRWD1_uc021wjf.1_Missense_Mutation_p.N983T|BRWD1_uc010god.1_5'Flank	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCATAAATATTATTTCTTCT	0.303000														30			10		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47047546	47047546	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47047546C>A	uc003cqp.3	+	42	7091	c.6912C>A	c.(6910-6912)acC>acA	p.T2304T	NBEAL2_uc010hjm.2_Silent_p.T1681T|NBEAL2_uc010hjn.2_Silent_p.T700T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	2304	BEACH.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ATTACTGCACCTATGAGGGTG	0.612000														136			34		2.20474e-14	2.59082e-14	1	1	0
RYR3	6263	broad.mit.edu	37	15	33927881	33927881	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33927881C>T	uc001zhi.3	+	25	3312	c.3242C>T	c.(3241-3243)gCa>gTa	p.A1081V	RYR3_uc010bar.3_Missense_Mutation_p.A1081V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1081	4 X approximate repeats.|B30.2/SPRY 2.			A -> P (in Ref. 1; BAA23795).	cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGATCTTATGCAGTGAGATCT	0.527000														49			7		0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107546686	107546686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:107546686G>A	uc004bcl.3	-	49	7100	c.6696C>T	c.(6694-6696)gaC>gaT	p.D2232D	NIPSNAP3B_uc004bcj.1_Intron	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	2232					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTAATGAGAGGTCTTTTAAGT	0.373000														98			21		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704380	56704380	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56704380G>T	uc010ygh.2	-	0	42	c.42C>A	c.(40-42)ccC>ccA	p.P14P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	14					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGCTGTTGCAGGGTCCTCCCT	0.507000														27			7		2.0095e-06	2.13635e-06	1	1	0
AHI1	54806	broad.mit.edu	37	6	135763781	135763781	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:135763781G>T	uc003qgi.3	-	13	2235	c.1851C>A	c.(1849-1851)ttC>ttA	p.F617L	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Missense_Mutation_p.F67L|AHI1_uc003qgh.3_Missense_Mutation_p.F617L|AHI1_uc003qgj.3_Missense_Mutation_p.F617L|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Missense_Mutation_p.F617L	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	617						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CATTGTGGGAGAAATCAAGAC	0.378000														19			8		0.00307968	0.00313564	1	1	0
PTPRM	5797	broad.mit.edu	37	18	8069961	8069961	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8069961C>A	uc002knn.4	+	7	1913	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	PTPRM_uc010dkv.3_Missense_Mutation_p.S470R|PTPRM_uc010wzl.2_Missense_Mutation_p.S257R	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	470	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGAAGGAAAGCCAAGAACTCA	0.423000														38			12		7.03913e-09	7.75971e-09	1	1	0
BHMT	635	broad.mit.edu	37	5	78416175	78416175	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78416175G>A	uc003kfu.4	+	3	393	c.288G>A	c.(286-288)ggG>ggA	p.G96G	BHMT_uc011cti.2_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	Homo sapiens betaine--homocysteine S-methyltransferase (BHMT), mRNA.	96	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	CATTTTAGGGGCAGGAAGTCA	0.383000														63			15		0	0	1	0	0
WBP11P1	441818	broad.mit.edu	37	18	30093647	30093647	+	RNA	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:30093647C>A	uc010dmc.3	+	0		c.2022C>A								Homo sapiens WW domain binding protein 11 pseudogene 1 (WBP11P1), non-coding RNA.																		TCTGCTGTGCCTCTTGCCAAA	0.458000														139			32		1.39806e-14	1.64448e-14	1	1	0
TRIO	7204	broad.mit.edu	37	5	14482807	14482807	+	Silent	SNP	C	T	T	rs139448086		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14482807C>T	uc003jff.3	+	45	6588	c.6582C>T	c.(6580-6582)atC>atT	p.I2194I	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.I1843I	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2194	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TTGAGCAGATCGTCATATTCA	0.478000														142			25		0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349719	36349719	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36349719C>T	uc002ocb.4	+	3	687	c.475C>T	c.(475-477)Ctg>Ttg	p.L159L	KIRREL2_uc002obz.4_Silent_p.L159L|KIRREL2_uc002oca.4_Silent_p.L109L|KIRREL2_uc002ocd.4_Silent_p.L156L	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	159	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGAATTGCTGTGGTTCCG	0.597000														205			48		0	0	1	0	0
KLKB1	3818	broad.mit.edu	37	4	187178451	187178451	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187178451C>T	uc003iyy.3	+	13	1728	c.1657C>T	c.(1657-1659)Caa>Taa	p.Q553*	KLKB1_uc011clc.2_Nonsense_Mutation_p.Q351*|KLKB1_uc011cld.2_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	553	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GAAAAGATATCAAGATTATAA	0.343000														97			18		0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12957822	12957822	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:12957822T>C	uc003wwm.2	-	8	2468	c.2024A>G	c.(2023-2025)aAg>aGg	p.K675R	DLC1_uc003wwk.1_Missense_Mutation_p.K238R|DLC1_uc003wwl.1_Missense_Mutation_p.K272R|DLC1_uc011kxx.1_Missense_Mutation_p.K164R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	675					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTTGAGCTTCAGGCTCTC	0.547000														237			66		0	0	1	0	0
NUP160	23279	broad.mit.edu	37	11	47830003	47830003	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47830003A>G	uc001ngm.3	-	17	2405	c.2320T>C	c.(2320-2322)Tac>Cac	p.Y774H	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.Y774H	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	774					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TTAATGAGGTAATAAGATAAG	0.403000														81			11		0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81037008	81037008	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81037008C>T	uc001kaf.2	+	7	923	c.351C>T	c.(349-351)agC>agT	p.S117S	ZMIZ1_uc001kag.2_5'UTR|ZMIZ1_uc001kah.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	117					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GCCGCCAGAGCGATCCCCCTG	0.622000														97			24		0	0	1	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49357476	49357476	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49357476C>A	uc002pkx.3	-	9	1644	c.1093G>T	c.(1093-1095)Gat>Tat	p.D365Y	PLEKHA4_uc010eml.3_Missense_Mutation_p.D340Y	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.	365						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)		CAACTTACATCTGTCTCCAAG	0.512000														150			37		1.90571e-15	2.25613e-15	1	1	0
KCNH4	23415	broad.mit.edu	37	17	40321559	40321559	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40321559T>C	uc002hzb.2	-	8	1859	c.1526A>G	c.(1525-1527)aAg>aGg	p.K509R		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	509					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CATGCGCTGCTTGAGCGGCCG	0.632000														148			27		0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930291	46930291	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46930291C>T	uc003bhw.1	-	0	2777	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	926	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GTACAGCAGACGCCCATTGGG	0.632000														109			15		0	0	1	0	0
CEBPE	1053	broad.mit.edu	37	14	23587999	23587999	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23587999G>A	uc001wiv.2	-	0	822	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		AGGCCCCAGCGCCTTCCTGTC	0.701000														84			21		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24181515	24181515	+	Splice_Site	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24181515A>C	uc003xdy.3	+	9	973	c.890_splice	c.e9+1	p.T297_splice	ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TCAGTTAATCACGTATGTACA	0.423000														48			13		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106926254	106926254	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106926254G>T	uc021ser.1	-	325		c.11614C>A								Parts of antibodies, mostly variable regions.																		GATACAGGGAGTTTTTGCTGT	0.488000														742			56		1.19403e-26	1.49337e-26	1	1	0
RNF8	9025	broad.mit.edu	37	6	37348968	37348968	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:37348968A>G	uc003onq.4	+	6	1472	c.1279A>G	c.(1279-1281)Atc>Gtc	p.I427V	RNF8_uc003onr.4_Intron|RNF8_uc011dtx.2_Missense_Mutation_p.I359V	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	427					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						CTCCTACTGTATCAATGAATG	0.423000														173			29		0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121944281	121944281	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:121944281T>C	uc003vkd.3	-	0	285	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	FEZF1_uc003vkc.3_Missense_Mutation_p.I71V|LOC154860_uc010lko.2_Non-coding_Transcript	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	71					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCAGGGGATCGACGAGTTG	0.677000														184			25		0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92735170	92735170	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92735170C>T	uc003umf.3	-	2	511	c.241G>A	c.(241-243)Gat>Aat	p.D81N	SAMD9_uc003umg.3_Missense_Mutation_p.D81N|SAMD9_uc022ahg.1_Missense_Mutation_p.D81N	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	81						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAATCGAATCTTCAATGGCT	0.373000														153			39		0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23403772	23403772	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23403772G>A	uc002dlo.3	-	15	2272	c.2075C>T	c.(2074-2076)aCc>aTc	p.T692I		NM_153603	NP_705831	P83436	COG7_HUMAN	Homo sapiens component of oligomeric golgi complex 7 (COG7), mRNA.	692					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		ATCACAGTAGGTCTGCATTGT	0.577000														122			32		0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15807132	15807132	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15807132A>G	uc009zif.3	-	12	1291	c.1197T>C	c.(1195-1197)aaT>aaC	p.N399N	EPS8_uc001rdb.3_Silent_p.N399N|EPS8_uc009zig.3_Silent_p.N139N|EPS8_uc010shv.2_Silent_p.N139N	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	399	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GTTCATCACCATTGACAGTAT	0.418000														95			24		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73494356	73494356	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73494356G>T	uc010wsa.2	+	26	3812	c.3620G>T	c.(3619-3621)aGc>aTc	p.S1207I	KIAA0195_uc002jnz.4_Missense_Mutation_p.S1197I|KIAA0195_uc010wsb.2_Missense_Mutation_p.S837I|KIAA0195_uc002job.4_Missense_Mutation_p.S205I	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1197					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTCTGTGACAGCTCCCGGGAC	0.612000														147			28		9.80776e-20	1.19282e-19	1	1	0
PGR	5241	broad.mit.edu	37	11	100999149	100999149	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:100999149G>A	uc001pgh.2	-	0	1396	c.653C>T	c.(652-654)gCg>gTg	p.A218V	PGR_uc001pgi.2_Missense_Mutation_p.A218V|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	218	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACCTCCACCGCAGCGGCCTG	0.711000														77			14		0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32673997	32673997	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:32673997G>A	uc010ezu.3	+	22	4752	c.4618_splice	c.e22+1	p.G1540_splice		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	1540					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCCTTTCAGGTAGTGATTTC	0.318000														52			20		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42231107	42231107	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:42231107G>A	uc003ose.2	-	7	2398	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.A612V	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	612	Interacts with CREBBP.|Pro-rich.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.S611S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTGTCTCTGGCGGAGGGGGC	0.657000														243			43		0	0	1	0	0
SLC35F2	54733	broad.mit.edu	37	11	107682519	107682519	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107682519G>A	uc001pjq.3	-	3	708	c.287_splice	c.e3-1	p.G96_splice	SLC35F2_uc010rvu.2_Splice_Site|SLC35F2_uc001pjs.3_Splice_Site_p.G96_splice	NM_017515	NP_059985	Q8IXU6	S35F2_HUMAN	Homo sapiens solute carrier family 35, member F2 (SLC35F2), mRNA.	96					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GGTTATCACTGCCTGGTTGAA	0.368000														146			27		0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4725101	4725101	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4725101G>A	uc002fzc.3	+	23	2602	c.2476G>A	c.(2476-2478)Gca>Aca	p.A826T	PLD2_uc002fzd.3_Missense_Mutation_p.A815T	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	826					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GATTCTTGGAGCAAATACCCG	0.488000														184			39		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166908316	166908316	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166908316C>A	uc002udo.4	-	7	1104	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.E293*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.E293*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	293						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATATTCTTTTCTATACTATGT	0.358000														78			10		0.00621372	0.00630477	1	1	0
MTF1	4520	broad.mit.edu	37	1	38305726	38305726	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38305726G>A	uc001cce.1	-	2	654	c.513C>T	c.(511-513)gtC>gtT	p.V171V	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	171						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCTGATTACAGACAAAGGTGT	0.557000														138			23		0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	98043610	98043610	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98043610A>G	uc010aft.3	+	7	1845	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	MBNL2_uc001vmz.3_3'UTR|MBNL2_uc001vna.3_Silent_p.E331E|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Silent_p.E176E	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	343					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			ACGGAATGGAATGCCAAGAAT	0.338000														79			14		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112328724	112328724	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:112328724G>T	uc001kze.3	+	1	170	c.44G>T	c.(43-45)aGa>aTa	p.R15I		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	15					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CGAAGTTACAGAGATCAAACA	0.313000														59			4		0.184627	0.184976	1	1	0
GPR148	344561	broad.mit.edu	37	2	131487621	131487621	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131487621G>A	uc002trv.2	+	0	979	c.897G>A	c.(895-897)tgG>tgA	p.W299*		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	299						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298T(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CTCACACATGGCTCCTGGCAG	0.572000														187			11		0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117827095	117827095	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117827095A>C	uc004bjj.4	-	10	3730	c.3318T>G	c.(3316-3318)atT>atG	p.I1106M	TNC_uc010mvf.3_Missense_Mutation_p.I1106M|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1106	Fibronectin type-III 6.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGCACCTGAATGATAAAGT	0.602000														255			42		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72822708	72822708	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72822708C>T	uc002fck.3	-	9	10140	c.9467G>A	c.(9466-9468)aGc>aAc	p.S3156N	ZFHX3_uc002fcl.3_Missense_Mutation_p.S2242N	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3156					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACAGTTGTGCTGGGCAGACC	0.562000														329			77		0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396876	42396876	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42396876G>T	uc002orx.3	+	6	679	c.570G>T	c.(568-570)gaG>gaT	p.E190D	ARHGEF1_uc002orw.1_Missense_Mutation_p.E190D|ARHGEF1_uc002ory.3_Missense_Mutation_p.E157D|ARHGEF1_uc002orz.3_Missense_Mutation_p.E28D|ARHGEF1_uc002osa.3_Missense_Mutation_p.E205D|ARHGEF1_uc002osb.3_Missense_Mutation_p.E172D|ARHGEF1_uc002osc.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	190	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGGCCCGGGAGCGGCACGTGG	0.701000														57			12		1.08611e-07	1.17606e-07	1	1	0
AFF2	2334	broad.mit.edu	37	X	148069061	148069061	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:148069061C>T	uc004fcp.3	+	19	4267	c.3788C>T	c.(3787-3789)gCc>gTc	p.A1263V	AFF2_uc004fcq.3_Missense_Mutation_p.A1253V|AFF2_uc004fcr.3_Missense_Mutation_p.A1224V|AFF2_uc011mxb.2_Missense_Mutation_p.A1228V|AFF2_uc004fcs.3_Missense_Mutation_p.A1228V|AFF2_uc011mxc.2_Missense_Mutation_p.A904V	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1263					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGATATGGCCGACAAACTG	0.478000														145			31		0	0	1	0	0
ERI1	90459	broad.mit.edu	37	8	8875870	8875870	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8875870T>C	uc003wsk.2	+	4	906	c.646T>C	c.(646-648)Ttg>Ctg	p.L216L		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	216	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	CTGGATGAAATTGAAGGAATT	0.294000														40			9		0	0	1	0	0
MGAT3	4248	broad.mit.edu	37	22	39883623	39883623	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:39883623G>A	uc003axv.4	+	1	510	c.271G>A	c.(271-273)Gag>Aag	p.E91K	MGAT3_uc010gxy.3_Missense_Mutation_p.E91K	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	91					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAAGGCGGCCGAGGAGCTCCA	0.697000														169			41		0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	201994684	201994684	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:201994684G>A	uc002uxb.4	+	1	561	c.96G>A	c.(94-96)gtG>gtA	p.V32V	CFLAR_uc002uwy.3_Silent_p.V32V|CFLAR_uc002uwz.3_Silent_p.V32V|CFLAR_uc010zhk.2_Intron|CFLAR_uc010zhl.2_Intron|CFLAR_uc002uxc.4_Silent_p.V32V|CFLAR_uc010fsw.2_Non-coding_Transcript|CFLAR_uc002uxd.4_Silent_p.V32V|CFLAR_uc002uxe.2_Silent_p.V32V|CFLAR_uc021vuw.1_Silent_p.V32V|CFLAR_uc010fsx.3_Silent_p.V32V|CFLAR_uc010fsy.3_Non-coding_Transcript|CFLAR_uc002uxf.3_Silent_p.V32V	NM_003879	NP_001189446	O15519	CFLAR_HUMAN	Homo sapiens CASP8 and FADD-like apoptosis regulator (CFLAR), transcript variant 1, mRNA.	32	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						CTATAGATGTGGTTCCACCTA	0.478000														241			78		0	0	1	0	0
NOC3L	64318	broad.mit.edu	37	10	96117060	96117060	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96117060G>A	uc001kjq.1	-	3	467	c.379C>T	c.(379-381)Cat>Tat	p.H127Y	NOC3L_uc009xuk.1_5'UTR	NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	127						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				ATGCGTTCATGCTTCCGTTTC	0.348000														54			14		0	0	1	0	0
TONSL	4796	broad.mit.edu	37	8	145666464	145666464	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145666464A>G	uc011llg.2	-	7	911	c.896T>C	c.(895-897)cTg>cCg	p.L299P		NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	Homo sapiens tonsoku-like, DNA repair protein (TONSL), mRNA.	299					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGCCTCTTCCAGCTGTTGCTG	0.637000														152			26		0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66356119	66356119	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:66356119C>T	uc003hcy.3	-	4	1571	c.1378G>A	c.(1378-1380)Gta>Ata	p.V460I	EPHA5_uc003hcx.3_Missense_Mutation_p.V391I|EPHA5_uc003hcz.3_Missense_Mutation_p.V460I|EPHA5_uc011cah.2_Missense_Mutation_p.V460I|EPHA5_uc011cai.2_Missense_Mutation_p.V460I|EPHA5_uc003hda.2_Missense_Mutation_p.V460I	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	460					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTTACATTTACAGACACATAC	0.473000										TSP Lung(17;0.13)				92			27		0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178050414	178050414	+	Missense_Mutation	SNP	G	A	A	rs140778498	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178050414G>A	uc003mjf.1	-	1	112	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Missense_Mutation_p.R2W|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.R2W|CLK4_uc011dgj.1_Missense_Mutation_p.R2W|CLK4_uc003mji.2_Missense_Mutation_p.R2W|CLK4_uc021yja.1_5'Flank|CLK4_uc010jkw.1_Missense_Mutation_p.R2W	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	2						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R2W(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTGGAATGCCGCATCTGTTGA	0.383000														80			8		0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70293595	70293595	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70293595C>T	uc001vip.3	-	8	2715	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	KLHL1_uc010thm.2_Missense_Mutation_p.G580R	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	641					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GTGGCCACTCCGACACCCCCT	0.448000														127			13		0	0	1	0	0
SPAG6	9576	broad.mit.edu	37	10	22699988	22699988	+	Missense_Mutation	SNP	G	A	A	rs143302036		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:22699988G>A	uc001iri.3	+	9	1510	c.1343G>A	c.(1342-1344)cGa>cAa	p.R448Q	SPAG6_uc010qct.2_Missense_Mutation_p.R423Q|SPAG6_uc009xkh.3_Missense_Mutation_p.R426Q|SPAG6_uc001irj.3_Intron|SPAG6_uc021poe.1_Missense_Mutation_p.R174Q	NM_012443	NP_036575	O75602	SPAG6_HUMAN	Homo sapiens sperm associated antigen 6 (SPAG6), transcript variant 1, mRNA.	448					cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	p.R447*(1)|p.R447Q(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AAAGCTCGACGACTTTTTGTA	0.368000														66			12		0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60575234	60575234	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60575234C>A	uc002ybs.3	-	10	2733	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	911					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTACAAGATTCTGTAGCCTTT	0.408000														102			19		6.94344e-10	7.75807e-10	1	1	0
CHMP7	91782	broad.mit.edu	37	8	23117774	23117774	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23117774A>G	uc003xdc.2	+	9	1886	c.1238A>G	c.(1237-1239)aAc>aGc	p.N413S	CHMP7_uc003xdd.2_Missense_Mutation_p.N303S|CHMP7_uc003xde.2_Missense_Mutation_p.T251A	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	Homo sapiens charged multivesicular body protein 7 (CHMP7), mRNA.	413					cellular membrane organization|late endosome to vacuole transport	ESCRT III complex|cytosol	protein transporter activity	p.P412fs*4(2)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGCGTGCCTAACCCTAGGATC	0.488000														171			41		0	0	1	0	0
TNKS2	80351	broad.mit.edu	37	10	93608297	93608297	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93608297G>A	uc001khp.3	+	18	2813	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	839					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TCTGCAGCCAGCAGTCTTGAC	0.488000														152			23		0	0	1	0	0
NMBR	4829	broad.mit.edu	37	6	142396962	142396962	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:142396962C>T	uc003qiu.3	-	2	1137	c.996G>A	c.(994-996)agG>agA	p.R332R		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	332					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TGAAATGCCTCCTGAAGCTTT	0.488000														131			26		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91631643	91631643	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:91631643T>C	uc003ulg.3	+	7	2637	c.2412T>C	c.(2410-2412)atT>atC	p.I804I	AKAP9_uc003ule.2_Silent_p.I816I|AKAP9_uc003ulf.3_Silent_p.I804I|AKAP9_uc003uli.3_Silent_p.I429I	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	816	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AAAGATTGATTTTCTTAGACT	0.338000			T	BRAF	papillary thyroid									102			23		0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85715716	85715716	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:85715716C>T	uc003hpd.3	-	20	3851	c.3443G>A	c.(3442-3444)cGa>cAa	p.R1148Q		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1148						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCAGAGATCGGTCTTTTGC	0.368000														193			25		0	0	1	0	0
SLC29A4	222962	broad.mit.edu	37	7	5340232	5340232	+	Silent	SNP	C	T	T	rs143356600	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5340232C>T	uc003sod.3	+	9	1550	c.1389C>T	c.(1387-1389)ttC>ttT	p.F463F	SLC29A4_uc003soc.3_Silent_p.F463F|SLC29A4_uc003soe.3_Silent_p.F449F	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	463					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		ACGGCTACTTCGGCAGCGTGC	0.682000														288			59		0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71490541	71490541	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71490541G>A	uc003kbw.4	+	4	1600	c.1359G>A	c.(1357-1359)ctG>ctA	p.L453L	MAP1B_uc010iyw.1_Silent_p.L470L|MAP1B_uc010iyx.1_Silent_p.L327L|MAP1B_uc010iyy.1_Silent_p.L327L	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	453						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AATTCATTCTGCCTAATGGTC	0.433000														131			28		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523032	31523032	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31523032C>T	uc010dmi.3	-	8	1837	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	NOL4_uc010xbs.2_Silent_p.Q228Q|NOL4_uc002kxr.4_Silent_p.Q285Q|NOL4_uc010xbt.2_Silent_p.Q439Q|NOL4_uc010dmh.3_Silent_p.Q375Q|NOL4_uc010xbu.2_Silent_p.Q449Q|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Silent_p.Q198Q	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	513						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCAGTACCTGCTGTCTCTCCA	0.433000														83			20		0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38006257	38006257	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38006257G>A	uc003xkv.1	-	1	344	c.80C>T	c.(79-81)gCt>gTt	p.A27V		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	27					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GGCCATCACAGCCTGTTGCCT	0.602000														94			12		0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150321825	150321825	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150321825C>T	uc003lsz.1	-	2	342	c.193G>A	c.(193-195)Gag>Aag	p.E65K	ZNF300P1_uc003ltb.3_Non-coding_Transcript|ZNF300P1_uc003lta.2_Non-coding_Transcript					Homo sapiens zinc finger protein 300 pseudogene 1 (ZNF300P1), non-coding RNA.																		ATCCATGGCTCTTCTCCTTGT	0.373000														17			4		0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51807102	51807102	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:51807102C>T	uc002lfj.4	+	4	693	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	POLI_uc010xds.2_Intron|POLI_uc002lfk.4_Missense_Mutation_p.R106W|POLI_uc002lfl.1_Missense_Mutation_p.R141W|POLI_uc010dpg.3_5'Flank	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	209	UmuC.				DNA repair|DNA replication	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding|protein binding	p.R184W(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGCAGAGATGCGGGAAGCCAT	0.413000								DNA polymerases (catalytic subunits)						184			35		0	0	1	0	0
SYTL1	84958	broad.mit.edu	37	1	27677325	27677325	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27677325G>T	uc001bnw.2	+	10	1243	c.1046G>T	c.(1045-1047)aGc>aTc	p.S349I	SYTL1_uc001bnv.2_Missense_Mutation_p.S337I|SYTL1_uc001bnx.2_3'UTR|SYTL1_uc009vsv.2_Missense_Mutation_p.S349I	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	349	C2 1.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding	p.N349K(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CGCGTGCTGAGCCTGTCTGTG	0.647000														145			21		1.2644e-06	1.3491e-06	1	1	0
JAKMIP2	9832	broad.mit.edu	37	5	147040937	147040937	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147040937C>T	uc010jgo.1	-	1	349	c.201G>A	c.(199-201)acG>acA	p.T67T	JAKMIP2_uc003loq.1_Silent_p.T67T|JAKMIP2_uc011dbx.1_Silent_p.T25T|JAKMIP2_uc003lor.1_Silent_p.T67T|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	67						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACCAGCACCGTGTGCTTGC	0.493000														260			60		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085159	80085159	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80085159T>G	uc010ysh.2	+	2	324	c.319T>G	c.(319-321)Tcc>Gcc	p.S107A	CTNNA2_uc010yse.2_Missense_Mutation_p.S107A|CTNNA2_uc010ysf.2_Missense_Mutation_p.S107A|CTNNA2_uc010ysg.2_Missense_Mutation_p.S107A	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	107					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			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						GCGGATCGCCTCCTCCGAGTT	0.572000														297			44		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1029525	1029525	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1029525C>A	uc001lsw.2	-	8	1157	c.1106G>T	c.(1105-1107)gGg>gTg	p.G369V		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	369					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGACCTCCCCGGGGGCATA	0.667000														77			6		2.7689e-08	3.02839e-08	1	1	0
FES	2242	broad.mit.edu	37	15	91435948	91435948	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91435948C>T	uc002bpv.3	+	13	1838	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G	FES_uc010uqj.2_Silent_p.G445G|FES_uc010uqk.2_Silent_p.G555G|FES_uc002bpx.3_Silent_p.G503G|FES_uc002bpy.3_Silent_p.G515G|FES_uc010bny.3_Silent_p.G445G	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	573	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGAACTTTGGCGAAGTGTTCA	0.597000														43			11		0	0	1	0	0
C9orf117	286207	broad.mit.edu	37	9	130474155	130474155	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130474155C>T	uc004brn.1	+	4	952	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PTRH1_uc004brm.3_Intron|C9orf117_uc010mxl.1_Non-coding_Transcript	NM_001012502	NP_001012520	Q5JU67	CI117_HUMAN	Homo sapiens chromosome 9 open reading frame 117 (C9orf117), mRNA.	304										breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCAAGGAGGCCGAGGAGCTGC	0.642000														23			5		0	0	1	0	0
GPKOW	27238	broad.mit.edu	37	X	48973491	48973491	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:48973491A>C	uc004dmr.3	-	5	813	c.806T>G	c.(805-807)gTt>gGt	p.V269G		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	269						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CATGGCCCGAACATTGTCAGG	0.552000														89			27		0	0	1	0	0
AMICA1	120425	broad.mit.edu	37	11	118068807	118068807	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118068807C>A	uc001psk.2	-	8	1086	c.912_splice	c.e8-1	p.S304_splice	AMICA1_uc001psg.2_Splice_Site_p.S114_splice|AMICA1_uc001psh.2_Splice_Site_p.S265_splice|AMICA1_uc009yzw.1_Splice_Site|AMICA1_uc001psi.2_Splice_Site_p.S294_splice|AMICA1_uc010rxw.1_Splice_Site_p.S265_splice|AMICA1_uc010rxx.1_Intron|AMICA1_uc001psl.1_Intron	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	304					blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	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;3.4e-05)		ATTCACTGAACTGCAAGACAT	0.443000											OREG0021382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		141			24		6.21321e-17	7.43302e-17	1	1	0
CHCHD3	54927	broad.mit.edu	37	7	132481280	132481280	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:132481280G>A	uc022alw.1	-	7	729	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	CHCHD3_uc003vre.3_Missense_Mutation_p.R195C|CHCHD3_uc010lmi.3_Non-coding_Transcript	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	195	CHCH.				inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GTGTTCTCACGGTAACACTGA	0.517000														91			17		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95073540	95073540	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95073540T>C	uc022bjx.1	-	8	2696	c.2359_splice	c.e8-1	p.D787_splice	NOL8_uc010mqw.3_Splice_Site|NOL8_uc022bjw.1_Splice_Site_p.D719_splice	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	787					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TGGATGACCATCCTAGGGAGG	0.438000														31			8		0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77942335	77942335	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:77942335C>T	uc001xtz.3	-	6	1393	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.S352N	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	440	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCTCACAGGGCTGTCCATGGC	0.652000														136			34		0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518818	108518818	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:108518818C>T	uc001vql.3	-	0	643	c.127G>A	c.(127-129)Gca>Aca	p.A43T		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	43						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						AAGAGAGATGCCAGAGACAGT	0.562000														375			65		0	0	1	0	0
FABP4	2167	broad.mit.edu	37	8	82391667	82391667	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:82391667C>A	uc003ycd.2	-	2	401	c.330G>T	c.(328-330)gaG>gaT	p.E110D		NM_001442	NP_001433	P15090	FABP4_HUMAN	Homo sapiens fatty acid binding protein 4, adipocyte (FABP4), mRNA.	110					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			GTTTATCATCCTCTCGTTTTC	0.403000														74			17		4.75885e-15	5.61893e-15	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39907007	39907007	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39907007G>A	uc010xuz.2	+	4	824	c.499G>A	c.(499-501)Gag>Aag	p.E167K	PLEKHG2_uc010xuy.2_Missense_Mutation_p.E108K|PLEKHG2_uc002olj.3_Missense_Mutation_p.E167K|PLEKHG2_uc010xva.2_5'UTR	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	167	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGAGGACTTGGAGAACAGCAG	0.667000														286			23		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152346952	152346952	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152346952G>A	uc021vrb.1	-	145	19692	c.19663C>T	c.(19663-19665)Cat>Tat	p.H6555Y	NEB_uc002txr.3_Missense_Mutation_p.H2928Y|NEB_uc002txu.3_Missense_Mutation_p.H8411Y|NEB_uc021vrc.1_Missense_Mutation_p.H8411Y|NEB_uc010fnx.3_Missense_Mutation_p.H6543Y|NEB_uc021vrd.1_Missense_Mutation_p.H6555Y|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.H324Y|NEB_uc002txq.3_Missense_Mutation_p.H434Y|NEB_uc010zca.2_Missense_Mutation_p.H386Y|NEB_uc010zcb.2_Missense_Mutation_p.H324Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6555	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCTTCTGAATGCTCAGACTTC	0.577000														34			10		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98497112	98497112	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98497112T>C	uc003upp.3	+	8	910	c.701T>C	c.(700-702)tTa>tCa	p.L234S	TRRAP_uc011kis.2_Missense_Mutation_p.L234S|TRRAP_uc003upr.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	234					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTGTTGTTTTAATGTATCAG	0.413000														117			22		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127680140	127680140	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127680140C>T	uc003kuu.3	-	24	3719	c.3280G>A	c.(3280-3282)Gga>Aga	p.G1094R	FBN2_uc003kuv.2_Missense_Mutation_p.G1061R	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1094	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTGAAGCTTCCGATTGTATTT	0.428000														165			35		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132891977	132891977	+	Missense_Mutation	SNP	T	C	C	rs41298397	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132891977T>C	uc011eck.2	+	0	517	c.517T>C	c.(517-519)Tat>Cat	p.Y173H		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	173			Y -> C (in dbSNP:rs17061404).			plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		CACAGGTGTCTATGACGATGG	0.468000														311			79		0	0	1	0	0
SNX15	29907	broad.mit.edu	37	11	64803116	64803116	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64803116C>T	uc001oci.4	+	8	1299	c.645C>T	c.(643-645)ttC>ttT	p.F215F	SNX15_uc001ock.3_Silent_p.F215F	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	215					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TTGCCCTCTTCGACCCCTTCT	0.647000														222			54		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88242512	88242512	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88242512C>T	uc001pcq.3	-	8	3087	c.2887G>A	c.(2887-2889)Gct>Act	p.A963T	GRM5_uc009yvm.3_Missense_Mutation_p.A931T	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	963					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCAGCGCCAGCGCCCAGGCCA	0.726000														88			21		0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65555562	65555562	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65555562C>T	uc002aoq.3	-	3	870	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	PARP16_uc002aoo.3_Missense_Mutation_p.G206S|PARP16_uc002aop.3_Missense_Mutation_p.G91S	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	206	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						AGGATGGGGCCGAGGAGGCTG	0.587000														76			12		0	0	1	0	0
TSHR	7253	broad.mit.edu	37	14	81609439	81609439	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:81609439C>T	uc001xvd.1	+	9	1193	c.1037C>T	c.(1036-1038)aCt>aTt	p.T346I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	346					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TTCCAGGATACTCATAACAAC	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							126			25		0	0	1	0	0
ZNF496	84838	broad.mit.edu	37	1	247463872	247463872	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247463872G>A	uc009xgv.3	-	7	1858	c.1821C>T	c.(1819-1821)caC>caT	p.H607H	ZNF496_uc001ico.3_Silent_p.H571H	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	571					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GCAGGCGCTCGTGGCGGAGGA	0.647000														184			16		0	0	1	0	0
MS4A2	2206	broad.mit.edu	37	11	59857209	59857209	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:59857209C>T	uc001nop.3	+	1	203	c.101C>T	c.(100-102)tCt>tTt	p.S34F	MS4A2_uc009ymu.3_Missense_Mutation_p.S34F|MS4A2_uc021qka.1_Missense_Mutation_p.S34F	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	34					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CAGGAAGTATCTTCAGGCAGA	0.463000														104			24		0	0	1	0	0
STAT2	6773	broad.mit.edu	37	12	56750351	56750351	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56750351G>A	uc001slc.3	-	1	208	c.5C>T	c.(4-6)gCg>gTg	p.A2V	STAT2_uc001sld.3_Missense_Mutation_p.A2V|STAT2_uc010sqn.2_Missense_Mutation_p.A2V	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	2					JAK-STAT cascade|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCCACTGCGCCATTTGGGC	0.458000														114			19		0	0	1	0	0
SEC14L3	266629	broad.mit.edu	37	22	30857366	30857366	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30857366G>A	uc003ahy.3	-	10	1101	c.1012C>T	c.(1012-1014)Ccc>Tcc	p.P338S	SEC14L3_uc003ahz.3_Missense_Mutation_p.P261S|SEC14L3_uc003aia.3_Missense_Mutation_p.P279S|SEC14L3_uc003aib.3_Missense_Mutation_p.P279S	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	338	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGCTGGCTGGGTAGAACATCT	0.607000														152			25		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490360	58490360	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490360G>T	uc002qqw.3	-	6	2306	c.1688C>A	c.(1687-1689)tCt>tAt	p.S563Y	ZNF606_uc010yhp.2_Missense_Mutation_p.S473Y	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S563Y(3)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTGCTCCAGAATGAGTTCT	0.398000														57			28		4.22769e-11	4.79992e-11	1	1	0
FLG	2312	broad.mit.edu	37	1	152279011	152279011	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152279011T>C	uc001ezu.1	-	2	8387	c.8351A>G	c.(8350-8352)gAc>gGc	p.D2784G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2784	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACGAATGGTGTCCTGACCGTC	0.602000									Ichthyosis					814			102		0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	64004878	64004878	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64004878C>A	uc003peh.3	-	1	137	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	LGSN_uc003pei.3_Missense_Mutation_p.V35F|LGSN_uc003pej.1_Missense_Mutation_p.V35F	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	35					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GGTTTAGTGACTTTCTTCCTT	0.383000														78			15		6.31663e-08	6.86475e-08	1	1	0
UTP14A	10813	broad.mit.edu	37	X	129060260	129060260	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:129060260A>G	uc004euz.3	+	13	2078	c.1988A>G	c.(1987-1989)aAt>aGt	p.N663S	UTP14A_uc011mup.2_Missense_Mutation_p.N611S|UTP14A_uc011muq.2_Missense_Mutation_p.N609S	NM_006649	NP_006640	Q9BVJ6	UT14A_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) (UTP14A), transcript variant 1, mRNA.	663					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAGATAAGAATTTGCCAAAT	0.448000											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		99			45		0	0	1	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252006	26252006	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26252006A>G	uc003nhh.3	+	0	128	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	43					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						GTATACGTTTACAAGGTGCTG	0.562000														291			58		0	0	1	0	0
DMPK	1760	broad.mit.edu	37	19	46280710	46280710	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46280710C>T	uc002pdi.1	-	8	1285	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	DMPK_uc010xxs.1_Missense_Mutation_p.G252S|DMPK_uc002pdd.1_Missense_Mutation_p.G351S|DMPK_uc002pde.1_Missense_Mutation_p.G351S|DMPK_uc002pdg.1_Missense_Mutation_p.G341S|DMPK_uc002pdf.1_Missense_Mutation_p.G341S|DMPK_uc002pdh.1_Missense_Mutation_p.G341S|DMPK_uc010xxt.1_Missense_Mutation_p.G341S	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	351	AGC-kinase C-terminal.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAGTCGAGGCCAAAGAAGAAG	0.622000														140			22		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98928393	98928393	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98928393C>T	uc002syo.3	+	26	3897	c.3633C>T	c.(3631-3633)ccC>ccT	p.P1211P	VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Silent_p.P868P|VWA3B_uc002syp.1_Silent_p.P603P|VWA3B_uc002syq.1_Silent_p.P487P|VWA3B_uc002syr.1_Silent_p.P528P|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1211										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAAAGAGGCCCGCCAAGCAGC	0.642000														25			18		0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184299391	184299391	+	Missense_Mutation	SNP	C	T	T	rs144473660	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184299391C>T	uc003foz.3	+	15	3415	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	993						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ATGAACCAGACGCTGCCTGTG	0.617000														39			8		0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30186501	30186501	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30186501C>A	uc003agr.3	-	18	2203	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	ASCC2_uc011akr.2_Nonsense_Mutation_p.E611*|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	687					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TCTGCCTTCTCTCTCAGCACT	0.587000														94			15		1.3612e-06	1.45125e-06	1	1	0
SDCCAG8	10806	broad.mit.edu	37	1	243480090	243480090	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243480090C>T	uc001hzw.3	+	8	1132	c.963C>T	c.(961-963)tcC>tcT	p.S321S	SDCCAG8_uc010pyk.2_Silent_p.S176S|SDCCAG8_uc010pyl.2_Silent_p.S133S|SDCCAG8_uc001hzx.3_Silent_p.S133S	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	321	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding	p.V320L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CACTAGTTTCCGTAAGGAGCA	0.398000														95			14		0	0	1	0	0
CABLES1	91768	broad.mit.edu	37	18	20716380	20716380	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:20716380G>T	uc002kuc.2	+	0	654	c.654G>T	c.(652-654)caG>caT	p.Q218H	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	218	Interacts with CDK3 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TCAGCGTGCAGGTGCCGGCGG	0.701000														43			8		5.4927e-09	6.0639e-09	1	1	0
SLC29A2	3177	broad.mit.edu	37	11	66136654	66136654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66136654G>A	uc001oht.3	-	3	521	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	SLC29A2_uc009yrf.3_Intron|SLC29A2_uc001ohu.3_Missense_Mutation_p.R98C|SLC29A2_uc001ohv.3_Missense_Mutation_p.R98C|AX747485_uc001ohw.1_Non-coding_Transcript	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	98					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						CCCAGAATGCGCACCGTCTCC	0.652000														19			4		0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37211114	37211114	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37211114C>T	uc010xtl.2	+	5	1710	c.1488C>T	c.(1486-1488)caC>caT	p.H496H	ZNF567_uc002oeo.1_Silent_p.H496H|ZNF567_uc010xtk.1_Silent_p.H496H|ZNF567_uc002oep.4_Silent_p.H465H|ZNF567_uc002oeq.1_Silent_p.H465H	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTGATCATCACCGAACTCACA	0.403000														88			14		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1251768	1251768	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1251768G>A	uc001lta.3	+	11	1467	c.1408G>A	c.(1408-1410)Ggc>Agc	p.G470S	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.G470S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	470	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCGGAAGTGCGGCCTGACGGA	0.657000														55			5		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5147842	5147842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5147842G>A	uc001ihr.3	+	7	1085	c.902G>A	c.(901-903)aGa>aAa	p.R301K	AKR1C3_uc021pml.1_Missense_Mutation_p.R301K|AKR1C3_uc010qap.2_Missense_Mutation_p.R278K|AKR1C3_uc001ihu.3_Missense_Mutation_p.R301K	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	301					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGCCTAGACAGAAATCTCCAC	0.358000														25			8		0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35550662	35550662	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35550662C>T	uc002nxq.2	+	5	491	c.246C>T	c.(244-246)aaC>aaT	p.N82N	HPN_uc002nxr.2_Silent_p.N82N|HPN_uc010xsh.1_Silent_p.N51N|HPN_uc002nxt.1_5'UTR|LOC100128675_uc010xsi.2_Silent_p.A81A	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	82	SRCR.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CGCGCTCCAACGCCAGGGTAG	0.682000														19			4		0	0	1	0	0
CCNJL	79616	broad.mit.edu	37	5	159738895	159738895	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:159738895G>A	uc003lyb.1	-	1	288	c.36C>T	c.(34-36)gcC>gcT	p.A12A	CCNJL_uc011dee.1_Silent_p.A12A|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Silent_p.A12A	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	12						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACGTCCGAGGCGACGCGCC	0.652000														179			26		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69344605	69344605	+	Missense_Mutation	SNP	C	T	T	rs138430854		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69344605C>T	uc003hdz.4	+	8	1070	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	336	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.L336F(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAGGTGACTCTCATAGACGC	0.353000														211			49		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71851615	71851615	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:71851615C>A	uc001jqm.3	+	3	841	c.382C>A	c.(382-384)Ctc>Atc	p.L128I		NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	128	Lys-rich.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						GGAAACGATCCTCTCCCCACC	0.577000														118			12		5.50884e-06	5.8131e-06	1	1	0
EPX	8288	broad.mit.edu	37	17	56274612	56274612	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56274612C>A	uc002ivq.3	+	6	1233	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	372					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CCCCTGCTTCCTGGCAGGTCA	0.622000														168			17		5.03518e-11	5.70985e-11	1	1	0
NMD3	51068	broad.mit.edu	37	3	160952621	160952621	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:160952621C>T	uc003feb.1	+	5	583	c.464C>T	c.(463-465)gCt>gTt	p.A155V	NMD3_uc003fec.3_Missense_Mutation_p.A155V|NMD3_uc003fed.1_Missense_Mutation_p.A155V|NMD3_uc010hwh.3_5'Flank	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	155					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TTCTGGAAGGCTGTGATTCAA	0.373000														164			25		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109637233	109637233	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109637233C>T	uc001tob.3	+	17	2773	c.2654C>T	c.(2653-2655)aCg>aTg	p.T885M	ACACB_uc001toc.3_Missense_Mutation_p.T885M	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	885					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCAATAAGACGTGTGTGTTT	0.547000														134			40		0	0	1	0	0
TSC2	7249	broad.mit.edu	37	16	2136299	2136299	+	Missense_Mutation	SNP	G	A	A	rs137854039		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2136299G>A	uc002con.3	+	36	4874	c.4768G>A	c.(4768-4770)Gac>Aac	p.D1590N	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.D1567N|TSC2_uc002coo.3_Missense_Mutation_p.D1523N|TSC2_uc010uvv.2_Missense_Mutation_p.D1487N|TSC2_uc010uvw.2_Missense_Mutation_p.D1475N|TSC2_uc002cop.3_Missense_Mutation_p.D1346N|TSC2_uc002coq.3_Missense_Mutation_p.D365N	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1590	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTGCCAGCCGGACAAGGTGTA	0.627000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					115			29		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77431663	77431663	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77431663C>A	uc004ajl.1	-	10	1468	c.1230G>T	c.(1228-1230)gaG>gaT	p.E410D	TRPM6_uc004ajk.1_Missense_Mutation_p.E405D|TRPM6_uc022bib.1_Missense_Mutation_p.E405D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.E410D|TRPM6_uc010mpd.1_Missense_Mutation_p.E410D|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	410					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATTTAATTGCTCTGACGCTG	0.368000														87			13		0.000219431	0.000226893	1	1	0
KCNIP3	30818	broad.mit.edu	37	2	96040138	96040138	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:96040138G>A	uc002sup.3	+	2	391	c.276G>A	c.(274-276)gaG>gaA	p.E92E	KCNIP3_uc002suq.3_Silent_p.E66E	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	92	EF-hand 1; degenerate.				apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity	p.E92K(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		CCAAGAAGGAGCTGCAGTCTC	0.602000														98			19		0	0	1	0	0
SLC6A17	388662	broad.mit.edu	37	1	110741029	110741029	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110741029G>A	uc009wfq.3	+	11	2608	c.2147G>A	c.(2146-2148)gGc>gAc	p.G716D		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	716					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TATGGGAGCGGCTACCTGCTG	0.672000														230			32		0	0	1	0	0
CC2D1B	200014	broad.mit.edu	37	1	52824024	52824024	+	Silent	SNP	C	T	T	rs140467530	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52824024C>T	uc001ctq.2	-	12	1591	c.1440G>A	c.(1438-1440)ccG>ccA	p.P480P	CC2D1B_uc001ctr.3_Silent_p.P26P|CC2D1B_uc001cts.3_Silent_p.P171P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	480								p.P480P(2)|p.P480L(1)		breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTTTATCAGCCGGGGCTGAAT	0.582000														124			12		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37000589	37000589	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37000589G>A	uc003jkl.4	+	11	3918	c.3419G>A	c.(3418-3420)aGt>aAt	p.S1140N	NIPBL_uc003jkk.4_Missense_Mutation_p.S1140N	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1140					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.R1139delR(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAAGAAGGAGTTCAGGTGGT	0.453000														115			22		0	0	1	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070695	114070695	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:114070695C>T	uc003ebi.3	-	3	410	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ZBTB20_uc003ebj.3_Missense_Mutation_p.R4H|ZBTB20_uc010hqp.3_Missense_Mutation_p.R4H|ZBTB20_uc003ebk.3_Missense_Mutation_p.R4H|ZBTB20_uc003ebl.3_Missense_Mutation_p.R4H|ZBTB20_uc003ebm.3_Missense_Mutation_p.R4H|ZBTB20_uc003ebn.3_Missense_Mutation_p.R4H|ZBTB20-AS1_uc003ebo.2_Non-coding_Transcript	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R4H(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCTGTGAATGCGCTCGGTCAT	0.537000														137			19		0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60724161	60724161	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:60724161G>A	uc002agp.3	-	13	2768	c.2533C>T	c.(2533-2535)Ctc>Ttc	p.L845F	NARG2_uc002ago.3_Missense_Mutation_p.L708F	NM_024611	NP_001018099	Q659A1	NARG2_HUMAN	Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA.	845						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ATGTGTTGGAGGATGTTAAAT	0.279000														24			5		0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30823918	30823918	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:30823918T>G	uc001rjd.3	-	8	1370	c.1022A>C	c.(1021-1023)aAg>aCg	p.K341T	IPO8_uc010sjt.2_Missense_Mutation_p.K136T	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	341					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTTCATCTGCTTCCAGGTTAT	0.378000														134			34		0	0	1	0	0
TEKT4	150483	broad.mit.edu	37	2	95537712	95537712	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:95537712C>A	uc002stw.1	+	0	481	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	130					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGAGCGCGCCCTGGACGCCAC	0.657000														36			10		3.86212e-05	4.026e-05	1	1	0
KRT1	3848	broad.mit.edu	37	12	53073598	53073598	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53073598G>A	uc001sau.1	-	0	594	c.535C>T	c.(535-537)Cga>Tga	p.R179*	KRT1_uc001sav.1_Nonsense_Mutation_p.R179*	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TCCCTTTCTCGAGACTTCACC	0.498000														163			34		0	0	1	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34789517	34789517	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34789517G>T	uc003oju.4	+	1	366	c.132G>T	c.(130-132)gaG>gaT	p.E44D	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	44										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGATGAAGAGGTTCTACAGA	0.522000														116			14		0.000151284	0.000156809	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225639794	225639794	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225639794G>A	uc010fwz.1	-	51	6080	c.5841C>T	c.(5839-5841)atC>atT	p.I1947I	DOCK10_uc002vob.2_Silent_p.I1941I|DOCK10_uc002voa.2_Silent_p.I603I	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1947	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		AGGTCACCTGGATGTAGGCAT	0.488000														58			11		0	0	1	0	0
OTUD3	23252	broad.mit.edu	37	1	20216981	20216981	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20216981G>T	uc001bcs.4	+	1	444	c.325G>T	c.(325-327)Gat>Tat	p.D109Y		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	109	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCAGCGGGAAGATTTTGAACC	0.438000														150			34		1.45844e-13	1.7027e-13	1	1	0
KLHL17	339451	broad.mit.edu	37	1	897248	897248	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:897248C>T	uc001aca.2	+	3	639	c.532C>T	c.(532-534)Cga>Tga	p.R178*	NOC2L_uc001abz.4_5'Flank|NOC2L_uc009vjq.3_5'Flank|NOC2L_uc009vjr.2_5'Flank|KLHL17_uc001acb.1_Nonsense_Mutation_p.R54*|KLHL17_uc010nya.1_Nonsense_Mutation_p.R54*|KLHL17_uc001acc.2_5'Flank|KLHL17_uc010nyb.1_5'Flank	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	178					actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAATGGCGTCCGAGACGCTTG	0.647000														139			16		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16823313	16823313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16823313G>A	uc010rcu.1	-	15	2224	c.2209C>T	c.(2209-2211)Cga>Tga	p.R737*	PLEKHA7_uc001mmo.3_Nonsense_Mutation_p.R737*|PLEKHA7_uc010rcv.2_Nonsense_Mutation_p.R311*|PLEKHA7_uc001mmn.3_Nonsense_Mutation_p.R445*	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	737					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			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						GGCTGGTCTCGGTACTGCTCC	0.557000														102			22		0	0	1	0	0
CACNG5	27091	broad.mit.edu	37	17	64881352	64881352	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:64881352T>C	uc010wqi.2	+	5	1060	c.823T>C	c.(823-825)Tgc>Cgc	p.C275R	CACNG5_uc010wqj.2_Missense_Mutation_p.C275R	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 5 (CACNG5), mRNA.	275				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTCTTCACCCTGCTGAGCCTC	0.632000														145			29		0	0	1	0	0
KCTD1	284252	broad.mit.edu	37	18	24039887	24039887	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:24039887G>A	uc010xbj.2	-	3	2136	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	KCTD1_uc002kvw.3_Silent_p.D104D|KCTD1_uc010xbk.2_Silent_p.D104D|KCTD1_uc002kvy.3_Silent_p.D22D	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	104					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ACAAAGTGTAGTCCTGGAAAA	0.363000														169			10		0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19209672	19209672	+	Silent	SNP	C	T	T	rs142063145		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19209672C>T	uc001bbb.3	-	6	900	c.624G>A	c.(622-624)tcG>tcA	p.S208S	ALDH4A1_uc010ocu.2_Silent_p.S148S|ALDH4A1_uc001bbc.3_Silent_p.S208S|ALDH4A1_uc021ohl.1_Silent_p.S208S	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	208					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AGTTAAAGGGCGAGATGGCCG	0.667000														177			15		0	0	1	0	0
DPY19L4	286148	broad.mit.edu	37	8	95802019	95802019	+	Nonsense_Mutation	SNP	C	T	T	rs145854417	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95802019C>T	uc003ygx.2	+	18	2177	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	685						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAAATATGGGCGATTTTGTCA	0.294000														134			22		0	0	1	0	0
MAMDC2	256691	broad.mit.edu	37	9	72833493	72833493	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:72833493G>T	uc004ahm.2	+	11	2509	c.1892G>T	c.(1891-1893)aGc>aTc	p.S631I	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	631	MAM 4.					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						ATTGAATACAGCTGTGAGAGG	0.428000														68			13		4.36969e-10	4.89342e-10	1	1	0
ZNF470	388566	broad.mit.edu	37	19	57089370	57089370	+	Missense_Mutation	SNP	G	A	A	rs140617949	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57089370G>A	uc002qnl.4	+	5	2249	c.1573G>A	c.(1573-1575)Gcg>Acg	p.A525T	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A525V(1)|p.L524H(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TGCACACCTCGCGCAACATCA	0.458000														99			16		0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48255600	48255600	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:48255600C>T	uc002lev.3	+	5	2140	c.1140C>T	c.(1138-1140)cgC>cgT	p.R380R	MAPK4_uc010xdm.2_Silent_p.R169R|MAPK4_uc010doz.3_3'UTR	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	380					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGGTACAGCGCGACCCGCGCG	0.672000														176			17		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11107017	11107017	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11107017C>A	uc010dxp.3	+	10	2082	c.1722C>A	c.(1720-1722)gcC>gcA	p.A574A	SMARCA4_uc010dxo.3_Silent_p.A574A|SMARCA4_uc002mqf.4_Silent_p.A574A|SMARCA4_uc002mqg.1_Silent_p.A574A|SMARCA4_uc010dxq.3_Silent_p.A574A|SMARCA4_uc010dxr.3_Silent_p.A574A|SMARCA4_uc002mqj.4_Silent_p.A574A|SMARCA4_uc010dxs.3_Silent_p.A574A|SMARCA4_uc002mqe.2_Silent_p.A574A	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	574					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACAAGGCTGCCCAGGTCGCCa	0.592000			"""F, N, Mis"""		NSCLC									223			60		2.5401e-28	3.18824e-28	1	1	0
RNF113B	140432	broad.mit.edu	37	13	98828993	98828993	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:98828993G>A	uc001vnk.3	-	0	529	c.498C>T	c.(496-498)aaC>aaT	p.N166N	FARP1_uc001vnh.3_Intron|FARP1_uc001vni.3_Intron|FARP1_uc001vnj.3_Intron	NM_178861	NP_849192	Q8IZP6	R113B_HUMAN	Homo sapiens ring finger protein 113B (RNF113B), mRNA.	166							nucleic acid binding|zinc ion binding	p.G165S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			CCGAGGAGGAGTTGCCCATGG	0.637000														162			40		0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157069139	157069139	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:157069139G>A	uc001fqq.2	-	1	375	c.90C>T	c.(88-90)gcC>gcT	p.A30A		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GGGACGACTCGGCTTTGTAGG	0.647000														84			56		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6303932	6303932	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6303932C>A	uc003giy.3	+	7	2576	c.2410C>A	c.(2410-2412)Ctg>Atg	p.L804M	WFS1_uc003gix.3_Missense_Mutation_p.L804M|WFS1_uc003giz.3_Missense_Mutation_p.L622M	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	804					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACATCGTGCTGCGGGCCAG	0.652000														121			31		1.68575e-08	1.84801e-08	1	1	0
HEMGN	55363	broad.mit.edu	37	9	100693016	100693016	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:100693016C>A	uc004axy.3	-	2	769	c.661G>T	c.(661-663)Gat>Tat	p.D221Y	HEMGN_uc004axz.3_Missense_Mutation_p.D221Y	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	221					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTAGCCATATCTTGGTACATT	0.418000														274			67		2.40885e-21	2.95477e-21	1	1	0
CCKBR	887	broad.mit.edu	37	11	6291375	6291375	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6291375G>T	uc001mcp.3	+	2	716	c.461G>T	c.(460-462)aGc>aTc	p.S154I	CCKBR_uc001mcq.3_Missense_Mutation_p.S82I|CCKBR_uc001mcr.3_Missense_Mutation_p.S154I|CCKBR_uc001mcs.3_Missense_Mutation_p.S154I	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	154					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.Y153N(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	GAGCGGTACAGCGCCATCTGC	0.602000														129			35		3.03874e-20	3.70712e-20	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189067986	189067986	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:189067986G>A	uc003izm.1	+	5	982	c.867G>A	c.(865-867)acG>acA	p.T289T	TRIML1_uc003izn.1_Silent_p.T13T	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	289	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CGGAGATAACGCTGGACCCAG	0.473000														284			31		0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72346711	72346711	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72346711C>T	uc002jkm.4	+	10	1523	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	KIF19_uc002jkj.2_Missense_Mutation_p.A462V|KIF19_uc002jkk.2_Missense_Mutation_p.A420V|KIF19_uc002jkl.2_Missense_Mutation_p.A420V	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	462					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTCACCATCGCCGGGTAAGCC	0.672000														67			9		0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2116654	2116654	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2116654G>A	uc002lva.3	-	16	2174	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	AP3D1_uc002luy.3_Missense_Mutation_p.R560W|AP3D1_uc002luz.3_Missense_Mutation_p.R651W	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	651					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGACGCCGCTGCTCCTCC	0.697000														36			11		0	0	1	0	0
TPX2	22974	broad.mit.edu	37	20	30371596	30371596	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30371596G>A	uc002wwp.1	+	11	1983	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TPX2_uc010gdv.1_Missense_Mutation_p.E465K	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	429					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACCACCCACCGAGCCTATTGG	0.428000														109			24		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175048561	175048561	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175048561C>T	uc001gkl.1	+	2	615	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	TNN_uc010pmx.1_Missense_Mutation_p.R168W	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	168	EGF-like 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCCTGCGAGCGGCTGGCCTG	0.736000														31			15		0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20937634	20937634	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20937634A>C	uc002zsp.3	+	12	1770	c.1690A>C	c.(1690-1692)Agt>Cgt	p.S564R	MED15_uc002zsq.3_Missense_Mutation_p.S524R|MED15_uc010gso.3_Missense_Mutation_p.S507R|MED15_uc002zsr.3_Missense_Mutation_p.S498R|MED15_uc011ahs.2_Missense_Mutation_p.S498R|MED15_uc002zss.3_Missense_Mutation_p.S443R|MED15_uc011ahu.2_Missense_Mutation_p.S274R|MED15_uc002zst.3_Missense_Mutation_p.S180R|MED15_uc002zsu.3_Missense_Mutation_p.S169R	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	564					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AAAGGACCTGAGTAAGATGAA	0.592000														282			14		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929591	105929591	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105929591C>A	uc001pja.3	-	3	873	c.233_splice	c.e3+1	p.R78_splice	KBTBD3_uc001pjb.3_Splice_Site_p.R78_splice|KBTBD3_uc009yxm.3_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	74	BTB.									NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGTAAAGTACCTGAAAAAGT	0.323000														40			12		6.40141e-05	6.6609e-05	1	1	0
ANO5	203859	broad.mit.edu	37	11	22301230	22301230	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:22301230C>T	uc001mqi.2	+	21	2978	c.2661C>T	c.(2659-2661)aaC>aaT	p.N887N	ANO5_uc001mqj.2_Silent_p.N886N	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	887						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAAAAGAGAACTTGGGAATTA	0.353000														69			12		0	0	1	0	0
HAS1	3036	broad.mit.edu	37	19	52217270	52217270	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52217270A>G	uc002pxn.1	-	3	1181	c.1168T>C	c.(1168-1170)Tac>Cac	p.Y390H	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxo.1_Missense_Mutation_p.Y383H|HAS1_uc002pxp.1_Missense_Mutation_p.Y382H	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	383					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCACGGAAGTACGACTTGGAC	0.652000														53			15		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58490209	58490209	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58490209T>C	uc002qqw.3	-	6	2457	c.1839A>G	c.(1837-1839)aaA>aaG	p.K613K	ZNF606_uc010yhp.2_Silent_p.K523K	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTATCTCATGTTTAGTGAGGG	0.423000														128			25		0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106968895	106968895	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:106968895G>A	uc003prh.3	+	1	3500	c.2588G>A	c.(2587-2589)aGt>aAt	p.S863N		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	863							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACGGCTTTCAGTACTTCTCAG	0.448000														129			39		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142232395	142232395	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142232395G>T	uc003eux.4	-	25	4711	c.4589C>A	c.(4588-4590)cCa>cAa	p.P1530Q		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1530					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAGAATATGTGGAAGAAGATA	0.358000								Other conserved DNA damage response genes						86			12		7.03913e-09	7.75971e-09	1	1	0
PARVG	64098	broad.mit.edu	37	22	44583713	44583713	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44583713C>T	uc011aqe.2	+	4	626	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	PARVG_uc003bep.3_Silent_p.L68L|PARVG_uc011aqf.2_Silent_p.L68L|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	68	CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GGTCCGCAGCCTGGAGGAGGA	0.602000														110			24		0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19168365	19168365	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19168365C>T	uc002nld.3	+	8	1866	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	ARMC6_uc002nlc.3_Silent_p.A453A|ARMC6_uc010xql.2_Silent_p.A385A|ARMC6_uc010xqm.2_Silent_p.A478A	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	478							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCAAGGCCGCCCTGCGGGACC	0.672000														172			36		0	0	1	0	0
ZWILCH	55055	broad.mit.edu	37	15	66807941	66807941	+	Silent	SNP	C	T	T	rs143266025		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66807941C>T	uc002aqb.3	+	3	525	c.279C>T	c.(277-279)ggC>ggT	p.G93G	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_5'UTR|ZWILCH_uc002aqa.3_5'UTR|ZWILCH_uc010bhv.3_5'UTR	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	93					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TCTCTACTGGCGAAAATGTTG	0.358000														55			12		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144812445	144812445	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144812445G>A	uc003yzk.3	-	1	377	c.308C>T	c.(307-309)gCc>gTc	p.A103V	FAM83H_uc022bch.1_Missense_Mutation_p.A103V	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	103					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCAGGCACGGCCTGGTCTGA	0.627000														138			17		0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53074010	53074010	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:53074010A>C	uc003xqz.2	-	8	1675	c.1519T>G	c.(1519-1521)Ttt>Gtt	p.F507V	ST18_uc011ldq.1_Missense_Mutation_p.F154V|ST18_uc011ldr.1_Missense_Mutation_p.F472V|ST18_uc011lds.1_Missense_Mutation_p.F412V|ST18_uc003xra.2_Missense_Mutation_p.F507V|ST18_uc003xrb.2_Missense_Mutation_p.F507V	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	507						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGCATCAAAACTGGCATAA	0.423000														151			30		0	0	1	0	0
PLA2G2D	26279	broad.mit.edu	37	1	20442831	20442831	+	Silent	SNP	C	T	T	rs150798636	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:20442831C>T	uc001bcz.3	-	1	197	c.180G>A	c.(178-180)acG>acA	p.T60T	PLA2G2D_uc009vpo.3_Non-coding_Transcript	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	60					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCAGTCCGTGGCATCTT	0.522000										Multiple Myeloma(11;0.12)				112			13		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183721257	183721257	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:183721257C>T	uc003ivd.1	+	26	7928	c.7853C>T	c.(7852-7854)gCg>gTg	p.A2618V		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2618					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)		GAGGAGAAGGCGCGCATCCTG	0.751000														31			12		0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43818982	43818982	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43818982C>T	uc001zrt.3	+	3	5778	c.5311C>T	c.(5311-5313)Cgc>Tgc	p.R1771C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1771						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGAGGTGGAGCGCTGGCTTGC	0.587000														247			40		0	0	1	0	0
IRF4	3662	broad.mit.edu	37	6	393248	393248	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:393248C>T	uc003msz.4	+	1	222	c.96C>T	c.(94-96)atC>atT	p.I32I	IRF4_uc010jne.2_Silent_p.I32I|IRF4_uc003mtb.4_Silent_p.I32I|IRF4_uc021ykl.1_Intron|IRF4_uc003mta.4_Non-coding_Transcript	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	32					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TCGACCAGATCGACAGCGGCA	0.667000			T	IGH@	MM									24			3		0	0	1	0	0
HOOK2	29911	broad.mit.edu	37	19	12881839	12881839	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12881839T>C	uc002muy.2	-	9	980	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HOOK2_uc002muz.2_Missense_Mutation_p.E270G	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	270	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	FHF complex|centrosome|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AACCTCCCTCTCCAGCTCGGC	0.667000														75			13		0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156897380	156897380	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156897380G>A	uc001fqm.2	+	6	927	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	LRRC71_uc001fql.2_Missense_Mutation_p.R37Q	NM_144702	NP_653303	Q8N4P6	LRC71_HUMAN	Homo sapiens leucine rich repeat containing 71 (LRRC71), mRNA.	252										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						AGCTGCAACCGGACCCTCGTC	0.652000											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			9		0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	28901672	28901672	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28901672A>C	uc001usb.3	-	19	3008	c.2723T>G	c.(2722-2724)aTt>aGt	p.I908S	FLT1_uc010aaq.2_Missense_Mutation_p.I33S|FLT1_uc001usa.3_Missense_Mutation_p.I126S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	908	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTATTCAACAATCACCATCAG	0.458000														61			8		0	0	1	0	0
ZNF3	7551	broad.mit.edu	37	7	99669525	99669525	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99669525G>A	uc003uss.3	-	2	921	c.603C>T	c.(601-603)ccC>ccT	p.P201P	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Silent_p.P194P|ZNF3_uc010lgj.3_Silent_p.P158P|ZNF3_uc003usr.3_Silent_p.P194P|ZNF3_uc003ust.4_Silent_p.P194P			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	194					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTCTCCCACGGGGAGTCTCT	0.458000														153			38		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52539194	52539194	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:52539194G>T	uc010bff.3	-	15	2061	c.1899C>A	c.(1897-1899)taC>taA	p.Y633*	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	633	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCATGAGCAAGTACAGAGAGC	0.443000														105			15		1.05317e-09	1.17384e-09	1	1	0
MUC16	94025	broad.mit.edu	37	19	9048837	9048837	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9048837C>A	uc002mkp.3	-	4	32998	c.32794G>T	c.(32794-32796)Gga>Tga	p.G10932*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10934	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						GTCACCACTCCTGGTACCCCA	0.488000														165			39		3.76114e-14	4.41238e-14	1	1	0
COX8C	341947	broad.mit.edu	37	14	93814406	93814406	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:93814406G>A	uc001ybt.1	+	1	237	c.159G>A	c.(157-159)acG>acA	p.T53T	UNC79_uc001ybs.1_Intron	NM_182971	NP_892016	Q7Z4L0	COX8C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIIC (COX8C), nuclear gene encoding mitochondrial protein, mRNA.	53						integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	p.T53T(2)|p.F52fs*5(1)		large_intestine(1)|lung(1)|prostate(2)|skin(1)	5		all_cancers(154;0.083)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		TGTTTTTTACGACCTTCTTAA	0.453000														81			18		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328491	57328491	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57328491G>A	uc002qnu.2	-	6	1670	c.1319C>T	c.(1318-1320)aCc>aTc	p.T440I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T411I|PEG3_uc002qnv.2_Missense_Mutation_p.T440I|PEG3_uc002qnw.2_Missense_Mutation_p.T316I|PEG3_uc002qnx.2_Missense_Mutation_p.T314I|PEG3_uc010etr.2_Missense_Mutation_p.T440I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	440					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CTGTGACTCGGTAAAGGAGGG	0.498000														222			49		0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935664	30935664	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30935664C>A	uc002nsu.1	+	1	1333	c.1195C>A	c.(1195-1197)Ctg>Atg	p.L399M	ZNF536_uc010edd.1_Missense_Mutation_p.L399M	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCTCAACAAGCTGTCGGTGAA	0.607000														195			51		1.54707e-10	1.74598e-10	1	1	0
DKKL1	27120	broad.mit.edu	37	19	49878129	49878129	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49878129C>T	uc002pnk.3	+	4	787	c.573C>T	c.(571-573)agC>agT	p.S191S	DKKL1_uc021uxk.1_Silent_p.S116S|DKKL1_uc021uxl.1_Silent_p.S160S	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	191					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		ACTGGCTCAGCGAGAAGCGAC	0.657000														106			19		0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42956571	42956571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956571G>A	uc003cmk.2	+	3	1270	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	ZNF662_uc003cmi.2_Missense_Mutation_p.D336N|ZNF662_uc003cmj.2_Missense_Mutation_p.D228N	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CGAATGTAAGGACTGTGGGAA	0.488000														75			21		0	0	1	0	0
PTPN6	5777	broad.mit.edu	37	12	7066930	7066930	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7066930G>T	uc001qsb.2	+	9	1430	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	PTPN6_uc001qsa.1_Missense_Mutation_p.Q398H|PTPN6_uc010sfr.1_Missense_Mutation_p.Q357H|PTPN6_uc009zfl.1_Missense_Mutation_p.Q396H|PTPN6_uc010sfs.1_Missense_Mutation_p.Q384H	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	396	Tyrosine-protein phosphatase.				G-protein coupled receptor protein signaling pathway|T cell costimulation|apoptosis|cell junction assembly|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GTACCTTACAGGTCTCCCCGC	0.607000														89			27		3.01185e-09	3.33505e-09	1	1	0
SRGAP1	57522	broad.mit.edu	37	12	64536230	64536230	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64536230G>A	uc010ssp.1	+	21	3092	c.3036G>A	c.(3034-3036)ttG>ttA	p.L1012L	SRGAP1_uc001srv.2_Silent_p.L949L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	1012					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		TCAGCCCTTTGCACAACGTTG	0.552000														113			22		0	0	1	0	0
ACRV1	56	broad.mit.edu	37	11	125546291	125546291	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125546291C>A	uc001qcs.3	-	2	754	c.636G>T	c.(634-636)caG>caT	p.Q212H	ACRV1_uc001qcl.3_Missense_Mutation_p.Q142H|ACRV1_uc001qcn.3_Missense_Mutation_p.Q157H|ACRV1_uc001qcr.3_Missense_Mutation_p.Q193H	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	212					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		GCTGGGAATTCTGAGTGATGC	0.398000														160			34		1.61788e-16	1.92999e-16	1	1	0
SIPA1	6494	broad.mit.edu	37	11	65408899	65408899	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65408899C>T	uc001ofb.2	+	1	674	c.507C>T	c.(505-507)ctC>ctT	p.L169L	SIPA1_uc010rom.1_Silent_p.L169L|SIPA1_uc001ofd.2_Silent_p.L169L	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	169					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGTGTGAGCTCGGGGGTGAGG	0.677000														188			18		0	0	1	0	0
KBTBD3	143879	broad.mit.edu	37	11	105924236	105924236	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:105924236T>C	uc001pja.3	-	3	1820	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	KBTBD3_uc001pjb.3_Missense_Mutation_p.T394A|KBTBD3_uc009yxm.3_Missense_Mutation_p.T315A	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	390										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GTATGCATGGTTCTTGGTGTT	0.388000														48			15		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94547517	94547517	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:94547517C>A	uc011cdt.2	+	13	2549	c.2291C>A	c.(2290-2292)aCt>aAt	p.T764N	GRID2_uc011cdu.2_Missense_Mutation_p.T669N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	764					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATTGGAAATACTGTTGCTGAT	0.393000														110			20		4.96729e-08	5.40616e-08	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105416177	105416177	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105416177G>T	uc010axc.1	-	6	5731	c.5611C>A	c.(5611-5613)Ctc>Atc	p.L1871I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1771I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1871						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAATGCAGAGGTCCGTGGTC	0.662000														512			106		2.34548e-53	2.9948e-53	1	1	0
IFI16	3428	broad.mit.edu	37	1	158988314	158988314	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158988314C>T	uc001ftg.3	+	4	1135	c.845C>T	c.(844-846)gCt>gTt	p.A282V	IFI16_uc010pis.2_Missense_Mutation_p.A226V|IFI16_uc010pit.2_Missense_Mutation_p.A282V|IFI16_uc001ftf.1_Missense_Mutation_p.A282V	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	282	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTATCTGAAGCTGGTCCTAAC	0.338000														68			18		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914727	32914727	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32914727G>A	uc001uub.1	+	10	6462	c.6235G>A	c.(6235-6237)Gtg>Atg	p.V2079M		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2079					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)		AGTTAAGGGAGTGTTAGAGGA	0.343000			"""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)				90			16		0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20420382	20420382	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:20420382A>C	uc003suu.3	+	4	1434	c.729A>C	c.(727-729)agA>agC	p.R243S	ITGB8_uc011jyh.2_Missense_Mutation_p.R108S|ITGB8_uc003sut.3_Missense_Mutation_p.R243S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	243	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTTCATAGACAGAAGATCT	0.443000														142			16		0	0	1	0	0
WSCD2	9671	broad.mit.edu	37	12	108626655	108626655	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108626655G>A	uc001tms.3	+	6	1871	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	WSCD2_uc001tmt.3_Missense_Mutation_p.G376D|WSCD2_uc001tmu.3_Missense_Mutation_p.G124D	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	376						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						TACTTCGATGGCTCCCTCTAC	0.577000														80			18		0	0	1	0	0
LYRM4	57128	broad.mit.edu	37	6	5109689	5109689	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:5109689T>C	uc003mwp.3	-	2	450	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	LYRM4_uc003mwq.3_Non-coding_Transcript|LYRM4_uc010jnu.3_3'UTR|AK094934_uc003mwn.1_Intron	NM_020408	NP_065141	Q9HD34	LYRM4_HUMAN	Homo sapiens LYR motif containing 4 (LYRM4), transcript variant 1, mRNA.	82						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				TTCTCAATGATCAGCTTGTCA	0.562000														196			32		0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98535413	98535413	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:98535413C>T	uc003upp.3	+	29	4583	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S	TRRAP_uc011kis.2_Silent_p.S1458S|TRRAP_uc003upr.3_Silent_p.S1150S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1458					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCCAAATTCCTTCAATGATA	0.368000														68			15		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235955384	235955384	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235955384A>G	uc001hxj.2	-	11	4333	c.4158T>C	c.(4156-4158)gaT>gaC	p.D1386D	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Intron|LYST_uc001hxl.1_Silent_p.D1386D	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1386					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCATAGTAGTATCACTTTCAA	0.323000														98			19		0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13600913	13600913	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:13600913A>G	uc003gmz.1	-	9	7728	c.7611T>C	c.(7609-7611)gaT>gaC	p.D2537D	BOD1L1_uc010idr.1_Silent_p.D1874D	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.	2537							DNA binding										GTGGCATGTCATCAGCTTTTA	0.512000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		34			14		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123269160	123269160	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123269160C>A	uc003vku.1	+	9	1404	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	ASB15_uc003vkw.1_Missense_Mutation_p.A371D	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	371					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GTCCTTCTGGCTGCAGGTGCA	0.473000														139			9		0.00448238	0.00455828	1	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37732351	37732351	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:37732351G>T	uc003xkm.2	-	2	1360	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.S435Y|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.S283Y	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	435					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGACAGCAAAGAGGACCTCCT	0.562000														308			35		3.86903e-22	4.7636e-22	1	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156717528	156717528	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156717528G>T	uc003ipc.3	+	8	1011	c.844_splice	c.e8-1	p.E282_splice	GUCY1B3_uc011cio.2_Splice_Site_p.E304_splice|GUCY1B3_uc011cip.2_Splice_Site_p.E262_splice|GUCY1B3_uc003ipd.3_Splice_Site_p.E210_splice|GUCY1B3_uc010iqf.3_Splice_Site_p.E282_splice|GUCY1B3_uc010iqg.3_Splice_Site_p.E210_splice|GUCY1B3_uc011ciq.2_Splice_Site_p.E210_splice	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	282					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GCCTTTTCAAGGAAGGATTGT	0.428000														85			11		0.00136819	0.00139829	1	1	0
SMARCC2	6601	broad.mit.edu	37	12	56558134	56558134	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56558134A>G	uc001skb.3	-	26	3627	c.3521T>C	c.(3520-3522)gTg>gCg	p.V1174A	SMARCC2_uc001skd.3_Missense_Mutation_p.V1112A|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Missense_Mutation_p.V1111A|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1174	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGCTGCCACAATGGCAGG	0.657000														197			57		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793392	65793392	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65793392T>G	uc001ogt.3	-	0	597	c.459A>C	c.(457-459)caA>caC	p.Q153H		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	153	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding	p.P152P(1)		breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACCGAGATATTGGGGTCTGC	0.567000														123			31		0	0	1	0	0
BABAM1	29086	broad.mit.edu	37	19	17379674	17379674	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17379674C>T	uc002nfu.3	+	1	177	c.59C>T	c.(58-60)tCg>tTg	p.S20L	BABAM1_uc010xpl.1_Missense_Mutation_p.S20L|BABAM1_uc002nfv.3_Missense_Mutation_p.S20L|BABAM1_uc010ean.2_Non-coding_Transcript|BABAM1_uc002nfw.3_Missense_Mutation_p.S20L	NM_014173	NP_054892	Q9NWV8	BABA1_HUMAN	Homo sapiens BRISC and BRCA1 A complex member 1 (BABAM1), transcript variant 2, mRNA.	20					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation	BRCA1-A complex|BRISC complex|cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5						GAGGAGCACTCGGCAGAGCCT	0.667000														29			5		0	0	1	0	0
MSGN1	343930	broad.mit.edu	37	2	17998323	17998323	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:17998323G>T	uc010yjt.2	+	0	538	c.538G>T	c.(538-540)Gac>Tac	p.D180Y		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	180					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGAACTCACAGACCTCCTTAA	0.582000														125			17		6.94344e-10	7.75807e-10	1	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29891239	29891239	+	Missense_Mutation	SNP	C	T	T	rs139011711		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29891239C>T	uc010vec.2	-	8	1764	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.E437K|SEZ6L2_uc002dur.4_Missense_Mutation_p.E437K|SEZ6L2_uc002duq.4_Missense_Mutation_p.E507K|SEZ6L2_uc010ved.2_Missense_Mutation_p.E463K|SEZ6L2_uc002dus.4_Missense_Mutation_p.E393K	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	507	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCACACATTCGATGGCATTG	0.622000														362			86		0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460861	142460861	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:142460861C>T	uc003wak.2	+	4	751	c.734C>T	c.(733-735)gCc>gTc	p.A245V	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Missense_Mutation_p.A185V	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	245					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACCATAGCTGCCAATAGCTAA	0.488000														124			14		0	0	1	0	0
CHST14	113189	broad.mit.edu	37	15	40764185	40764185	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40764185T>C	uc001zlw.3	+	0	1026	c.773T>C	c.(772-774)gTc>gCc	p.V258A		NM_130468	NP_569735	Q8NCH0	CHSTE_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 (CHST14), mRNA.	258					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GGCGACGATGTCACATTCCCC	0.597000														340			98		0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544948	23544948	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23544948G>T	uc002nre.3	-	3	946	c.833C>A	c.(832-834)tCc>tAc	p.S278Y	ZNF91_uc010xrj.2_Missense_Mutation_p.S246Y	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	278						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGGGTTGAGGACCATAGAAA	0.383000														121			23		1.85244e-09	2.0593e-09	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31334348	31334348	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:31334348C>A	uc021sia.1	-	15	2258	c.1944G>T	c.(1942-1944)caG>caT	p.Q648H	TRPM1_uc010azy.3_Missense_Mutation_p.Q516H|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.Q631H|TRPM1_uc001zfm.3_Missense_Mutation_p.Q609H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	609					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.Q609Q(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAAGGGATACTGGAACCGAC	0.527000														73			5		0.014758	0.0149061	1	1	0
PLEKHH2	130271	broad.mit.edu	37	2	43953531	43953531	+	Missense_Mutation	SNP	G	A	A	rs146823531		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43953531G>A	uc010yny.2	+	16	2745	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I	PLEKHH2_uc002rtf.3_Missense_Mutation_p.V887I	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	888	PH 2.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTATACTATCGTTATCCATCC	0.398000														62			19		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228727	142228727	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142228727C>T	uc003ywd.1	-	3	1167	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A287T|SLC45A4_uc010meq.1_Missense_Mutation_p.A285T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	338					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTAGGAGGCGTCGTGGAAG	0.672000														259			39		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67237764	67237764	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67237764G>A	uc002esa.3	+	19	2349	c.2306G>A	c.(2305-2307)aGc>aAc	p.S769N	ELMO3_uc002esb.3_Missense_Mutation_p.S752N|ELMO3_uc002esc.3_Missense_Mutation_p.S603N|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	716					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TATGACTGCAGCATCGCTGAA	0.642000														44			9		0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488445	121488445	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:121488445C>T	uc003ksv.3	+	1	1136	c.760C>T	c.(760-762)Ctc>Ttc	p.L254F	ZNF474_uc021ycy.1_Missense_Mutation_p.L254F	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	254						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAATGACCGGCTCCCTGTGGA	0.522000														113			20		0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160047706	160047706	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160047706G>A	uc003lym.1	-	14	2911	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	ATP10B_uc010jit.1_Silent_p.G5G|ATP10B_uc003lyn.3_Silent_p.G246G	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	688					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGATGTCGCCCTGGTCCC	0.602000														121			34		0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233321075	233321075	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233321075G>A	uc002vst.4	+	1	161	c.84G>A	c.(82-84)ccG>ccA	p.P28P	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	28					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGGAGAACCCGGCCTTCTGGA	0.622000														154			31		0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3730576	3730576	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3730576G>A	uc010xhv.2	+	3	542	c.542G>A	c.(541-543)cGt>cAt	p.R181H	TJP3_uc010xhs.2_Missense_Mutation_p.R162H|TJP3_uc010xht.2_Missense_Mutation_p.R126H|TJP3_uc010xhu.2_Missense_Mutation_p.R171H|TJP3_uc010xhw.2_Missense_Mutation_p.R181H	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	162						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCATGGGCGTAGGAGCCCA	0.711000														120			31		0	0	1	0	0
ATRNL1	26033	broad.mit.edu	37	10	116925332	116925332	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:116925332G>T	uc001lcg.3	+	6	1405	c.1019G>T	c.(1018-1020)aGc>aTc	p.S340I	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.S340I	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	340						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATTTAGAAAGCAGTATATGG	0.323000														44			7		0.00307968	0.00313564	1	1	0
C1orf135	79000	broad.mit.edu	37	1	26162173	26162173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26162173C>T	uc001bkw.1	-	2	385	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K		NM_024037	NP_076942	Q9H7T9	CA135_HUMAN	Homo sapiens chromosome 1 open reading frame 135 (C1orf135), mRNA.	129										NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00521)|all_lung(284;0.00764)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.117)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.28e-25)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000787)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCAGCTTCCTGGATGTCT	0.507000														133			38		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1102483	1102483	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1102483G>A	uc001lsx.1	+	46	7882	c.7855G>A	c.(7855-7857)Gag>Aag	p.E2619K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4985						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCCCCCGGGGAGTGCTGTAA	0.607000														42			5		0	0	1	0	0
COX4I2	84701	broad.mit.edu	37	20	30227779	30227779	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30227779C>A	uc002wwj.1	+	2	201	c.126C>A	c.(124-126)gcC>gcA	p.A42A		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	42					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			ACTGCTATGCCCAGCGCTACT	0.597000														89			16		0.000566183	0.000582251	1	1	0
SLC6A6	6533	broad.mit.edu	37	3	14489097	14489097	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14489097C>A	uc010heg.3	+	4	671	c.372C>A	c.(370-372)ggC>ggA	p.G124G	SLC6A6_uc003byp.3_Silent_p.G124G|SLC6A6_uc010hef.1_Non-coding_Transcript|SLC6A6_uc003byq.3_Silent_p.G124G|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	124					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.G124C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAGGTATCGGCTATGCCTCCG	0.542000														675			151		6.368e-85	8.14142e-85	1	1	0
GOLGA6B	55889	broad.mit.edu	37	15	72953649	72953649	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72953649G>T	uc010uks.1	+	7	650	c.609G>T	c.(607-609)caG>caT	p.Q203H		NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	203										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GGTTACAGCAGACCATAAAGG	0.587000														452			27		1.06801e-11	1.22009e-11	1	1	0
MTF2	22823	broad.mit.edu	37	1	93586135	93586135	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93586135A>C	uc009wdj.3	+	8	1119	c.827A>C	c.(826-828)aAc>aCc	p.N276T	MTF2_uc010oth.2_Missense_Mutation_p.N174T|MTF2_uc009wdk.3_Missense_Mutation_p.N276T|MTF2_uc010oti.2_Missense_Mutation_p.N174T|MTF2_uc001dpi.4_Intron|MTF2_uc001dpl.4_Missense_Mutation_p.N174T	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	Homo sapiens metal response element binding transcription factor 2 (MTF2), transcript variant 1, mRNA.	276						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGCCTTTACAACCTAAGTGTT	0.343000														54			11		0	0	1	0	0
UBE2D1	7321	broad.mit.edu	37	10	60121147	60121147	+	Missense_Mutation	SNP	C	A	A	rs141191537		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:60121147C>A	uc001jke.2	+	1	297	c.74C>A	c.(73-75)cCt>cAt	p.P25H	UBE2D1_uc021prc.1_5'UTR	NM_003338	NP_003329	P51668	UB2D1_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 1 (UBE2D1), transcript variant 1, mRNA.	25					BMP signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|ubiquitin-protein ligase activity	p.P25S(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						TCAGCTGGACCTGTGGGAGAT	0.383000														134			21		8.34094e-07	8.90579e-07	1	1	0
ELAC2	60528	broad.mit.edu	37	17	12903547	12903547	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:12903547G>A	uc002gnz.4	-	14	1466	c.1349C>T	c.(1348-1350)gCg>gTg	p.A450V	ELAC2_uc002gnu.4_5'UTR|ELAC2_uc002gnv.4_Missense_Mutation_p.A78V|ELAC2_uc002gnx.4_Missense_Mutation_p.A210V|ELAC2_uc010vvo.2_Missense_Mutation_p.A248V|ELAC2_uc010vvp.2_Missense_Mutation_p.A431V|ELAC2_uc010vvq.2_Missense_Mutation_p.A449V|ELAC2_uc010vvr.2_Missense_Mutation_p.A410V	NM_018127	NP_060597	Q9BQ52	RNZ2_HUMAN	Homo sapiens elaC homolog 2 (E. coli) (ELAC2), transcript variant 1, mRNA.	450					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding	p.A450V(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AAGCTGCAGCGCCTCAACTAT	0.577000														99			26		0	0	1	0	0
CEP68	23177	broad.mit.edu	37	2	65298745	65298745	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:65298745G>A	uc002sdl.4	+	2	729	c.515G>A	c.(514-516)aGc>aAc	p.S172N	CEP68_uc002sdj.2_Missense_Mutation_p.S172N|CEP68_uc010yqb.1_Missense_Mutation_p.S172N|CEP68_uc002sdk.4_Missense_Mutation_p.S172N|CEP68_uc010yqc.2_Missense_Mutation_p.S172N|CEP68_uc010yqd.1_Missense_Mutation_p.S172N	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	172					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGCCTCACAGCTCAGGTCTC	0.562000														114			45		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76696915	76696915	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:76696915G>A	uc002bby.3	-	25	3476	c.3417C>T	c.(3415-3417)gcC>gcT	p.A1139A	SCAPER_uc010bkr.3_Silent_p.A447A|SCAPER_uc002bbx.3_Silent_p.A893A|SCAPER_uc002bbz.1_Silent_p.A1010A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1138			A -> T (in dbSNP:rs3743176).			endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGTCCTGCGGCATGCTGCA	0.478000														200			27		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100897277	100897277	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:100897277C>T	uc003pqj.4	-	4	972	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	SIM1_uc021zdg.1_Missense_Mutation_p.A169T|SIM1_uc010kcu.3_Missense_Mutation_p.A169T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	169					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTACGCTTGGCCAAGACGCAC	0.632000														80			10		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380400	380400	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:380400G>A	uc001lpb.3	+	17	2833	c.2824G>A	c.(2824-2826)Gtg>Atg	p.V942M		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	942				V -> M (in Ref. 2; BAB71566).		Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTCGCGCCCGTGGTCATGCG	0.692000														74			21		0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111966237	111966237	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:111966237G>A	uc001eba.3	-	4	467	c.411C>T	c.(409-411)gaC>gaT	p.D137D	OVGP1_uc001eaz.3_Silent_p.D99D|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Silent_p.D127D	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	137					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAAGAAAAGGTCAAGACCAT	0.433000														90			21		0	0	1	0	0
HSD17B13	345275	broad.mit.edu	37	4	88231425	88231425	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88231425G>A	uc003hqo.2	-	5	845	c.782C>T	c.(781-783)tCg>tTg	p.S261L	HSD17B13_uc010ikk.2_Missense_Mutation_p.S225L	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	261						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		ATTGATATACGATGGAACAAA	0.313000														67			14		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56500405	56500405	+	Silent	SNP	G	A	A	rs147124522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56500405G>A	uc003pcy.4	-	9	1665	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	DST_uc021zay.1_Silent_p.D885D|DST_uc021zax.1_Silent_p.D519D|DST_uc003pdc.4_Silent_p.D519D|DST_uc003pdd.4_Silent_p.D519D	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	845					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTGAACAAGGTCTTCTAGCT	0.343000														43			8		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466345	50466345	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:50466345C>T	uc001vdk.2	+	0	1801	c.1619C>T	c.(1618-1620)tCg>tTg	p.S540L						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CCAACTTTGTCGGAGGGTCCA	0.537000														94			22		0	0	1	0	0
HOXA3	3200	broad.mit.edu	37	7	27150148	27150148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27150148C>T	uc011jzl.2	-	1	312	c.112G>A	c.(112-114)Gct>Act	p.A38T	HOXA3_uc003syk.3_Missense_Mutation_p.A38T	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	38					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCCCAAAGCGGCGGACGCC	0.667000														84			11		0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5073726	5073726	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5073726G>T	uc010mhm.3	+	12	1918	c.1805G>T	c.(1804-1806)aGc>aTc	p.S602I	JAK2_uc003ziw.3_Missense_Mutation_p.S602I	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	602	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		AGTATGATGAGCAAGCTTTCT	0.353000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					130			22		3.6726e-16	4.37102e-16	1	1	0
NDST1	3340	broad.mit.edu	37	5	149927843	149927843	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149927843G>A	uc003lsk.4	+	11	2711	c.2209G>A	c.(2209-2211)Ggc>Agc	p.G737S	NDST1_uc011dcj.2_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	737	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.A736A(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATTACCGCCGGCTCTGACGC	0.622000														116			26		0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33647385	33647385	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33647385G>T	uc002nui.3	+	6	1012	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	312										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					AAACTGTGGAGCCTGTGTGAC	0.473000														133			14		6.49762e-13	7.53005e-13	1	1	0
JAK3	3718	broad.mit.edu	37	19	17945947	17945947	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17945947C>T	uc002nhn.4	-	14	2092	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	664	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									134			28		0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243427	119243427	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:119243427C>A	uc001pwm.4	-	1	1059	c.764G>T	c.(763-765)aGa>aTa	p.R255I	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	255					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CATGCCGTCTCTTCCCGGGGA	0.642000														138			14		1.5842e-08	1.73923e-08	1	1	0
SMYD1	150572	broad.mit.edu	37	2	88383924	88383924	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88383924G>A	uc002ssr.3	+	1	312	c.227G>A	c.(226-228)cGc>cAc	p.R76H	SMYD1_uc002ssq.2_Missense_Mutation_p.R76H|MIR4780_uc021vkp.1_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TACTGCGACCGCACCTGCCAG	0.522000														135			36		0	0	1	0	0
GLE1	2733	broad.mit.edu	37	9	131277836	131277836	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131277836C>A	uc004bvj.3	+	2	464	c.350C>A	c.(349-351)tCt>tAt	p.S117Y	GLE1_uc004bvi.3_Missense_Mutation_p.S117Y|GLE1_uc010myd.3_5'UTR	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	Homo sapiens GLE1 RNA export mediator homolog (yeast) (GLE1), transcript variant 1, mRNA.	117					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CACACAGAATCTATGGTACTT	0.398000														48			6		3.59834e-05	3.75534e-05	1	1	0
MYH1	4619	broad.mit.edu	37	17	10399596	10399596	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:10399596C>T	uc002gmo.3	-	33	5021	c.4927G>A	c.(4927-4929)Gcc>Acc	p.A1643T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1643				A -> D (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCCTCAGGGCCTCAGCAGCC	0.502000														222			50		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49957477	49957477	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:49957477G>A	uc004dow.1	-	4	2011	c.1887C>T	c.(1885-1887)atC>atT	p.I629I	AKAP4_uc004dou.1_Silent_p.I620I|AKAP4_uc004dov.1_Silent_p.I246I|AKAP4_uc010njp.1_Silent_p.I451I	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	629					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCATTAGAACGATGTTTGACA	0.458000														192			51		0	0	1	0	0
SNORD7	692076	broad.mit.edu	37	17	33900679	33900679	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33900679C>T	uc002hjo.1	+	0		c.4C>T								Homo sapiens small nucleolar RNA, C/D box 7 (SNORD7), small nucleolar RNA.																		TGCAGCGATGCGATGATGAGT	0.428000														67			19		0	0	1	0	0
MON2	23041	broad.mit.edu	37	12	62861091	62861091	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:62861091T>G	uc001sre.3	+	0	495	c.104T>G	c.(103-105)gTc>gGc	p.V35G	MON2_uc010ssn.2_Missense_Mutation_p.V35G|MON2_uc009zqj.3_Missense_Mutation_p.V35G|MON2_uc010ssl.2_5'UTR|MON2_uc010ssm.2_Missense_Mutation_p.V35G|MON2_uc001srd.1_Missense_Mutation_p.V35G	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	35					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTCCCACCTGTCAAAGAGGTA	0.542000														137			29		0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767496	31767496	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31767496G>A	uc002nsy.4	-	1	3268	c.3203C>T	c.(3202-3204)cCg>cTg	p.P1068L		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	1068					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P885L(1)|p.P1068L(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GTGGTCTTCCGGAGATTTCCC	0.468000														100			22		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130485513	130485513	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130485513C>T	uc004brq.1	+	6	840	c.773C>T	c.(772-774)gCg>gTg	p.A258V	PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Missense_Mutation_p.A245V|TTC16_uc004brr.1_Missense_Mutation_p.A203V|TTC16_uc010mxn.1_5'UTR	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	258							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGCCAAGATGCGGGGATCCTG	0.647000														119			17		0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8590439	8590439	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:8590439C>T	uc003bqq.3	+	3	687	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_uc011atd.2_Silent_p.S118S|LMCD1_uc011ate.2_Silent_p.S79S|LMCD1_uc011atf.1_Silent_p.S118S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	191	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)		AATATAAGAGCGAGGCCCTCG	0.587000														254			58		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46856207	46856207	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46856207C>T	uc003oyo.3	-	3	482	c.193G>A	c.(193-195)Gtt>Att	p.V65I	GPR116_uc003oyp.3_Missense_Mutation_p.V65I|GPR116_uc003oyq.3_Missense_Mutation_p.V65I|GPR116_uc003oyr.2_Missense_Mutation_p.V65I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	65					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCAATATTAACAGTGTATTCT	0.413000														91			20		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329582	152329582	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152329582G>T	uc001ezw.4	-	2	753	c.680C>A	c.(679-681)tCt>tAt	p.S227Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	227	Ser-rich.						calcium ion binding|structural molecule activity	p.S227S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTTGATCCAGATCCAGATTC	0.433000														418			38		3.38236e-24	4.20128e-24	1	1	0
PDPR	55066	broad.mit.edu	37	16	70190411	70190411	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:70190411C>T	uc002eyf.1	+	18	3226	c.2269C>T	c.(2269-2271)Cag>Tag	p.Q757*	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Nonsense_Mutation_p.Q657*|PDPR_uc002eyg.1_Nonsense_Mutation_p.Q424*|PDPR_uc002eyh.2_Nonsense_Mutation_p.Q102*|PDPR_uc010vls.1_Nonsense_Mutation_p.Q102*|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	757					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CGCCCTCCTGCAGCAGAAGCA	0.542000														260			33		0	0	1	0	0
PKMYT1	9088	broad.mit.edu	37	16	3026775	3026775	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3026775C>A	uc002csn.3	-	2	777	c.268G>T	c.(268-270)Gag>Tag	p.E90*	PKMYT1_uc010uwn.2_Non-coding_Transcript|PKMYT1_uc002csm.3_Nonsense_Mutation_p.E90*|PKMYT1_uc002cso.3_Nonsense_Mutation_p.E21*|PKMYT1_uc002csq.3_Nonsense_Mutation_p.E81*|PKMYT1_uc010bsy.1_Nonsense_Mutation_p.E81*	NM_004203	NP_004194	Q99640	PMYT1_HUMAN	Homo sapiens protein kinase, membrane associated tyrosine/threonine 1 (PKMYT1), transcript variant 1, mRNA.	90					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	Golgi membrane|endoplasmic reticulum membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TGCAGAGTCTCTGAGGCCTCG	0.667000														24			10		7.48243e-07	8.00842e-07	1	1	0
C2CD2L	9854	broad.mit.edu	37	11	118983078	118983078	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118983078C>A	uc001pvn.3	+	7	1419	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M	C2CD2L_uc001pvo.3_Missense_Mutation_p.L354M	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	354						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAAGTGCTGAGGAGCAG	0.617000														102			22		1.50039e-11	1.71053e-11	1	1	0
ZDHHC1	29800	broad.mit.edu	37	16	67432548	67432548	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67432548C>T	uc010vjm.2	-	6	1046	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	248						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ATGAGCAGGGCGGCCAGGGCC	0.632000														35			10		0	0	1	0	0
ADRBK1	156	broad.mit.edu	37	11	67050268	67050268	+	Silent	SNP	C	T	T	rs150236476		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67050268C>T	uc009yrn.1	+	13	1472	c.1206C>T	c.(1204-1206)atC>atT	p.I402I		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	402	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	AGCATGAGATCGACCGCATGA	0.607000														44			7		0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11687884	11687884	+	Silent	SNP	G	A	A	rs150271048	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11687884G>A	uc003wui.3	+	5	986	c.834G>A	c.(832-834)tcG>tcA	p.S278S	FDFT1_uc003wuh.3_Silent_p.S214S|FDFT1_uc010lsa.1_Silent_p.S193S|FDFT1_uc011kxe.2_Silent_p.S214S|FDFT1_uc011kxf.2_Silent_p.S235S|FDFT1_uc011kxg.2_Silent_p.S111S|FDFT1_uc010lsb.3_Silent_p.S214S|FDFT1_uc011kxh.2_Silent_p.S214S|FDFT1_uc011kxi.2_Intron|FDFT1_uc011kxj.2_Silent_p.S214S|FDFT1_uc022ary.1_Silent_p.S214S|FDFT1_uc011kxk.2_Silent_p.S193S	NM_004462	NP_004453	P37268	FDFT_HUMAN	Homo sapiens farnesyl-diphosphate farnesyltransferase 1 (FDFT1), mRNA.	278					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		CCTACCTTTCGAGACTCAGAA	0.502000														136			28		0	0	1	0	0
ZBTB41	360023	broad.mit.edu	37	1	197168633	197168633	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197168633C>T	uc001gtx.1	-	0	1040	c.971G>A	c.(970-972)aGt>aAt	p.S324N	ZBTB41_uc009wyz.1_Non-coding_Transcript|CRB1_uc010poz.2_5'Flank	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN	Homo sapiens zinc finger and BTB domain containing 41 (ZBTB41), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						ATCCTTTTCACTTTGTTCTTC	0.418000														114			23		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159566237	159566237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:159566237C>T	uc003ipz.3	+	14	1555	c.1292C>T	c.(1291-1293)cCt>cTt	p.P431L	RXFP1_uc010iqj.2_Missense_Mutation_p.P260L|RXFP1_uc010iqk.3_Missense_Mutation_p.P299L|RXFP1_uc011cja.2_Missense_Mutation_p.P326L|RXFP1_uc010iqo.3_Missense_Mutation_p.P383L|RXFP1_uc011cjb.2_Missense_Mutation_p.P329L|RXFP1_uc011cjc.2_Missense_Mutation_p.P350L|RXFP1_uc011cjd.2_Missense_Mutation_p.P350L|RXFP1_uc010iql.3_Missense_Mutation_p.P275L|RXFP1_uc011cje.2_Missense_Mutation_p.P458L|RXFP1_uc010iqm.3_Missense_Mutation_p.P398L|RXFP1_uc011cjf.2_Missense_Mutation_p.P300L|RXFP1_uc010iqn.3_Missense_Mutation_p.P376L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	431						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TGCATGCGACCTTATATCAGG	0.378000														112			24		0	0	1	0	0
ZNF141	7700	broad.mit.edu	37	4	367647	367647	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:367647C>A	uc003gaa.2	+	3	1598	c.1421C>A	c.(1420-1422)aCt>aAt	p.T474N	ZNF141_uc003gab.3_Intron	NM_003441	NP_003432	Q15928	ZN141_HUMAN	Homo sapiens zinc finger protein 141 (ZNF141), mRNA.	474					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AAAATTCATACTTGAGAGAAA	0.328000														85			17		1.15088e-07	1.24477e-07	1	1	0
ZNF343	79175	broad.mit.edu	37	20	2463857	2463857	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2463857G>A	uc002wge.1	-	5	2238	c.1750C>T	c.(1750-1752)Cga>Tga	p.R584*	ZNF343_uc010gao.1_Nonsense_Mutation_p.R584*|ZNF343_uc002wgd.1_Nonsense_Mutation_p.R494*	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R584*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTAAAGCCTCGCCCACACTCC	0.522000														89			22		0	0	1	0	0
FER	2241	broad.mit.edu	37	5	108294941	108294941	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:108294941G>A	uc003kop.1	+	12	1933	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	FER_uc011cvf.1_Non-coding_Transcript|FER_uc011cvg.1_Missense_Mutation_p.E342K	NM_005246	NP_005237	P16591	FER_HUMAN	Homo sapiens fer (fps/fes related) tyrosine kinase (FER), mRNA.	517	SH2.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		GTATCGATTCGAGGGCACTGG	0.343000														66			11		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48682624	48682624	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48682624C>T	uc003cuf.1	-	26	8107	c.8107G>A	c.(8107-8109)Gcc>Acc	p.A2703T	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.A589T|CELSR3_uc003cul.3_Missense_Mutation_p.A2606T|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2606					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGGAGGATGGCGACTGCAGTG	0.642000														63			16		0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27728602	27728602	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27728602C>T	uc002rky.3	+	9	834	c.768C>T	c.(766-768)ggC>ggT	p.G256G	GCKR_uc010ezd.3_Silent_p.G256G|GCKR_uc010ylu.2_Silent_p.G66G	NM_001486	NP_001477	Q14397	GCKR_HUMAN	Homo sapiens glucokinase (hexokinase 4) regulator (GCKR), mRNA.	256	SIS 1.		G -> S (in dbSNP:rs8179212).		carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GTCTCAGCGGCTCCTCCCGGA	0.542000														142			14		0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152732646	152732646	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152732646G>A	uc001fal.1	+	1	640	c.582G>A	c.(580-582)caG>caA	p.Q194Q	KPRP_uc021ozf.1_Silent_p.Q194Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	194	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCCCCAGTTTCAGTCAA	0.547000														244			85		0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21042020	21042020	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21042020G>A	uc001bdr.4	-	1	462	c.344C>T	c.(343-345)cCc>cTc	p.P115L	KIF17_uc001bds.4_Missense_Mutation_p.P115L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	115	Kinesin-motor.				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GAAGGCCCTGGGGATGATGCC	0.652000														195			20		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46908341	46908341	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46908341G>A	uc002zhi.3	+	16	2467	c.2446G>A	c.(2446-2448)Ggc>Agc	p.G816S	COL18A1_uc002zhg.3_Missense_Mutation_p.G636S	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1051	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGACCTCCCGGCCTGCCGGG	0.597000														175			19		0	0	1	0	0
PDIA3	2923	broad.mit.edu	37	15	44062493	44062493	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44062493G>A	uc001zsu.3	+	10	1460	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	PDIA3_uc010bdp.3_Missense_Mutation_p.A418T|PDIA3_uc010ued.2_Missense_Mutation_p.A212T	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	438	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		GGATGCCACAGCCAATGATGT	0.398000														71			14		0	0	1	0	0
THAP10	56906	broad.mit.edu	37	15	71174954	71174954	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71174954G>A	uc002asv.3	-	2	774	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	LRRC49_uc002asu.3_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	Homo sapiens THAP domain containing 10 (THAP10), mRNA.	205							DNA binding|metal ion binding	p.L205M(2)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCATTACACAGTCTTTTTCCA	0.363000														87			18		0	0	1	0	0
C10orf81	79949	broad.mit.edu	37	10	115527167	115527167	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115527167T>G	uc001lat.2	+	3	832	c.270T>G	c.(268-270)ttT>ttG	p.F90L	C10orf81_uc009xyc.2_Missense_Mutation_p.F8L|C10orf81_uc001lar.2_Missense_Mutation_p.F96L|C10orf81_uc001las.2_Missense_Mutation_p.F8L	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	90	PH.									central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		AGAAGATGTTTAAATGCCACC	0.398000														37			13		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69949063	69949063	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:69949063C>T	uc010kak.3	+	18	3035	c.2759C>T	c.(2758-2760)tCt>tTt	p.S920F	BAI3_uc003pev.4_Missense_Mutation_p.S920F|BAI3_uc011dxx.2_Missense_Mutation_p.S126F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	920					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTGCCTGTCTATCATCTCA	0.348000														102			24		0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192267420	192267420	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:192267420T>G	uc010fsg.2	+	23	2787	c.2532T>G	c.(2530-2532)atT>atG	p.I844M	MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Missense_Mutation_p.I844M|MYO1B_uc002usu.2_Missense_Mutation_p.I89M	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	844	IQ 6.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TTGCTGTCATTTGGGCTTACT	0.448000														51			18		0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37901227	37901227	+	Missense_Mutation	SNP	G	A	A	rs147188188		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37901227G>A	uc002hsr.3	+	8	1276	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	GRB7_uc002hss.3_Missense_Mutation_p.R334H|GRB7_uc021twu.1_Missense_Mutation_p.R357H|GRB7_uc010cwc.3_Missense_Mutation_p.R334H|GRB7_uc002hst.3_Missense_Mutation_p.R334H	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	334	PH.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGCCTTCCGCCTCTTCAAG	0.617000														54			18		0	0	1	0	0
RRAD	6236	broad.mit.edu	37	16	66956090	66956090	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:66956090C>A	uc002eqn.2	-	4	968	c.816G>T	c.(814-816)gaG>gaT	p.E272D	RRAD_uc002eqo.2_Missense_Mutation_p.E272D	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	272					small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|calmodulin binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		TGCCAAGGCTCTCTCGCCTCC	0.607000														156			15		2.23348e-06	2.37297e-06	1	1	0
BSX	390259	broad.mit.edu	37	11	122848527	122848527	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:122848527C>A	uc010rzs.2	-	2	532	c.532G>T	c.(532-534)Gca>Tca	p.A178S		NM_001098169	NP_001091639	Q3C1V8	BSH_HUMAN	Homo sapiens brain-specific homeobox (BSX), mRNA.	178								p.K177R(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		CCGTCTGGTGCTTTGGGTTCG	0.602000														104			29		4.87955e-14	5.71551e-14	1	1	0
PHF2	5253	broad.mit.edu	37	9	96392276	96392276	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96392276G>A	uc004aub.3	+	1	270	c.123G>A	c.(121-123)gaG>gaA	p.E41E	PHF2_uc011lug.1_Splice_Site	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	41				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		AAGAGGAGGAGGCGCCCGACA	0.542000														145			27		0	0	1	0	0
RERG	85004	broad.mit.edu	37	12	15370385	15370385	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:15370385C>A	uc001rcs.3	-	0	179	c.39G>T	c.(37-39)ggG>ggT	p.G13G	RERG_uc001rct.3_Silent_p.G13G|RERG_uc010shu.2_Silent_p.G13G	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	13					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCCTGCTCTCCCAAATATTG	0.418000														174			36		1.08052e-11	1.23412e-11	1	1	0
SNRPN	6638	broad.mit.edu	37	15	25221477	25221477	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:25221477C>T	uc021sgb.1	+	3	1232	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	SNRPN_uc001ywp.1_Missense_Mutation_p.R61C|SNRPN_uc001ywq.1_Missense_Mutation_p.R61C|SNRPN_uc001ywr.1_Missense_Mutation_p.R61C|SNRPN_uc001yws.1_Missense_Mutation_p.R61C|SNRPN_uc001ywt.1_Missense_Mutation_p.R61C|SNRPN_uc001ywy.1_Missense_Mutation_p.R61C|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Intron|SNRPN_uc021sga.1_Missense_Mutation_p.R61C	NM_022808	NP_073719	P63162	RSMN_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide N (SNRPN), transcript variant 5, mRNA.	61					RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding	p.R61C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		GCAACCAGAGCGTGAAGAAAA	0.428000									Prader-Willi syndrome					94			24		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170027155	170027155	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170027155G>A	uc002ues.3	-	58	11499	c.11286C>T	c.(11284-11286)agC>agT	p.S3762S		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3762	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCGAAACTCGCTCTCTGTGC	0.527000														160			54		0	0	1	0	0
PLCD1	5333	broad.mit.edu	37	3	38050075	38050075	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38050075G>A	uc003chm.3	-	11	2193	c.1839C>T	c.(1837-1839)cgC>cgT	p.R613R	PLCD1_uc003chn.3_Silent_p.R592R	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	592					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	GTPase activating protein binding|calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGTCCTGGAAGCGGCCCTGGT	0.667000														122			19		0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140267392	140267392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140267392C>T	uc004cmp.2	-	4	623	c.427G>A	c.(427-429)Gtc>Atc	p.V143I	EXD3_uc010ncg.1_Missense_Mutation_p.V82I|EXD3_uc004cmr.3_Missense_Mutation_p.V82I|EXD3_uc004cms.3_Missense_Mutation_p.V143I	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	143					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGCGGTGGACGTGTGCCAGC	0.667000														168			10		0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57564342	57564342	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57564342G>A	uc001nmc.4	+	5	1405	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CTNND1_uc001nlf.2_Silent_p.E278E|CTNND1_uc021qjk.1_Silent_p.E278E|CTNND1_uc001nlh.1_Silent_p.E278E|CTNND1_uc001nlj.4_Silent_p.E224E|CTNND1_uc001nlq.4_Silent_p.E177E|CTNND1_uc001nlr.4_Silent_p.E224E|CTNND1_uc001nln.4_Silent_p.E278E|CTNND1_uc001nli.4_Silent_p.E278E|CTNND1_uc001nlo.4_Silent_p.E177E|CTNND1_uc001nlp.4_Silent_p.E224E|CTNND1_uc001nlu.4_Silent_p.E177E|CTNND1_uc001nlt.4_Silent_p.E177E|CTNND1_uc001nlv.4_Silent_p.E177E|CTNND1_uc001nls.4_Silent_p.E177E|CTNND1_uc001nlw.4_Silent_p.E177E|CTNND1_uc001nmf.4_Silent_p.E278E|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Silent_p.E224E|CTNND1_uc001nlk.4_Silent_p.E224E|CTNND1_uc001nme.4_Silent_p.E278E|CTNND1_uc001nll.4_Silent_p.E224E|CTNND1_uc001nlm.4_Silent_p.E278E|CTNND1_uc001nmi.4_Silent_p.E177E|CTNND1_uc001nmg.4_Silent_p.E224E|CTNND1_uc001nmh.4_Silent_p.E278E	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	278					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTCATCCAGAGCCTTATGGGC	0.557000														310			73		0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76660589	76660589	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76660589T>C	uc003pik.1	-	12	1644	c.1514A>G	c.(1513-1515)gAc>gGc	p.D505G		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	505					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGATCGGCTGTCATCTGAAGA	0.512000														100			19		0	0	1	0	0
KLHDC8A	55220	broad.mit.edu	37	1	205312649	205312649	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205312649C>T	uc001hcf.1	-	1	652	c.84G>A	c.(82-84)gaG>gaA	p.E28E	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.E28E	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	28										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GGCCCCCGGTCTCCAGCAGGG	0.672000														84			34		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237796907	237796907	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237796907C>A	uc001hyl.1	+	42	6705	c.6585C>A	c.(6583-6585)aaC>aaA	p.N2195K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2195	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGTGGCCAACTGTTGCCGTT	0.393000														190			48		3.50607e-19	4.25313e-19	1	1	0
MFAP4	4239	broad.mit.edu	37	17	19288434	19288434	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:19288434T>C	uc002gvs.3	-	4	671	c.570A>G	c.(568-570)gcA>gcG	p.A190A	MFAP4_uc002gvt.3_Silent_p.A166A	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	166	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTCAAAGCCTGCCACAAAGA	0.602000														188			37		0	0	1	0	0
ST5	6764	broad.mit.edu	37	11	8717975	8717975	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:8717975C>A	uc001mgt.3	-	18	3478	c.3292_splice	c.e18+1	p.G1098_splice	ST5_uc009yfr.3_Splice_Site_p.G678_splice|ST5_uc001mgu.3_Splice_Site_p.G678_splice|ST5_uc001mgv.3_Splice_Site_p.G1098_splice|ST5_uc010rbp.2_Splice_Site_p.G611_splice	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	1098					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AAGACTTACCCTTTGCCCGAC	0.488000														375			87		2.16136e-38	2.74551e-38	1	1	0
FUT10	84750	broad.mit.edu	37	8	33319100	33319100	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33319100C>A	uc011lbi.2	-	1	227	c.61G>T	c.(61-63)Gca>Tca	p.A21S	FUT10_uc003xjd.3_5'UTR|FUT10_uc003xje.3_5'UTR|FUT10_uc003xjf.3_5'UTR|FUT10_uc003xjg.3_5'UTR|FUT10_uc003xjh.3_5'UTR|FUT10_uc003xji.1_5'UTR			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	0					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GCCATTCCTGCTGGGACCAGG	0.547000														18			4		0.150653	0.151008	1	1	0
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136693712G>A	uc011edg.2	-	7	1142	c.893C>T	c.(892-894)tCg>tTg	p.S298L	MAP7_uc011edf.2_Missense_Mutation_p.S253L|MAP7_uc010kgu.3_Missense_Mutation_p.S290L|MAP7_uc011edh.2_Missense_Mutation_p.S253L|MAP7_uc010kgv.3_Missense_Mutation_p.S290L|MAP7_uc010kgs.3_Missense_Mutation_p.S122L|MAP7_uc011edi.2_Missense_Mutation_p.S122L|MAP7_uc010kgq.2_Missense_Mutation_p.S174L|MAP7_uc003qgz.3_Missense_Mutation_p.S268L|MAP7_uc003qha.2_Missense_Mutation_p.S231L|MAP7_uc010kgr.2_Missense_Mutation_p.S122L|MAP7_uc010kgt.2_Missense_Mutation_p.S290L|MAP7_uc003qhb.3_Non-coding_Transcript	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512000														107			26		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647624	179647624	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647624G>T	uc021vsy.1	-	17	3234	c.3009C>A	c.(3007-3009)cgC>cgA	p.R1003R	TTN_uc021vsz.1_Silent_p.R957R|TTN_uc021vta.1_Silent_p.R957R|TTN_uc021vtb.1_Silent_p.R957R|TTN_uc002unb.2_Silent_p.R1003R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1003	Ig-like 3.						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)			CAAATGCTTCGCGAATCATAA	0.502000														160			14		7.93312e-07	8.47869e-07	1	1	0
BUB1B	701	broad.mit.edu	37	15	40494850	40494850	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40494850C>A	uc001zkx.4	+	13	1901	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	BUB1B_uc010ucl.1_Silent_p.T431T	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	563					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTCTCAAAACCTCAGAAAGCA	0.403000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					163			35		2.42023e-17	2.90129e-17	1	1	0
TINAG	27283	broad.mit.edu	37	6	54173618	54173618	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54173618A>C	uc003pcj.2	+	0	416	c.270A>C	c.(268-270)gaA>gaC	p.E90D	TINAG_uc003pci.3_Missense_Mutation_p.E90D|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	90	SMB.				Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			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)			GTGACAGAGAAAATTCTGATT	0.453000														165			35		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24843536	24843536	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24843536G>T	uc001wpc.3	+	5	2058	c.1737G>T	c.(1735-1737)caG>caT	p.Q579H	NFATC4_uc010alr.3_Missense_Mutation_p.Q642H|NFATC4_uc010tok.2_Missense_Mutation_p.Q642H|NFATC4_uc010tol.2_Missense_Mutation_p.Q642H|NFATC4_uc010als.2_3'UTR|NFATC4_uc010too.2_Missense_Mutation_p.Q592H|NFATC4_uc010tom.2_Missense_Mutation_p.Q592H|NFATC4_uc010ton.2_Missense_Mutation_p.Q592H|NFATC4_uc010toq.2_Missense_Mutation_p.Q611H|NFATC4_uc010alt.3_Missense_Mutation_p.Q611H|NFATC4_uc010top.2_Missense_Mutation_p.Q611H|NFATC4_uc010alu.3_3'UTR|NFATC4_uc010tor.2_Missense_Mutation_p.Q579H|NFATC4_uc010tos.2_Missense_Mutation_p.Q509H|NFATC4_uc010tot.2_Missense_Mutation_p.Q567H|NFATC4_uc010tou.2_Missense_Mutation_p.Q509H|NFATC4_uc010tov.2_Missense_Mutation_p.Q567H|NFATC4_uc010tow.2_Missense_Mutation_p.Q509H|NFATC4_uc010alv.3_Missense_Mutation_p.Q567H|NFATC4_uc010tox.2_Missense_Mutation_p.Q509H|NFATC4_uc001wpd.3_Missense_Mutation_p.Q114H|NFATC4_uc010toy.2_Missense_Mutation_p.Q114H|NFATC4_uc010toz.2_Missense_Mutation_p.Q114H|NFATC4_uc010tpa.2_5'UTR|NFATC4_uc010tpb.2_5'UTR	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	579	RHD.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGCAGCCCAGCGCTCAGCCC	0.647000														58			16		4.7546e-09	5.25358e-09	1	1	0
ADH1B	125	broad.mit.edu	37	4	100231991	100231991	+	Missense_Mutation	SNP	G	A	A	rs147811380		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100231991G>A	uc003hus.4	-	7	1118	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	ADH1B_uc003hut.4_Missense_Mutation_p.A305V|ADH1B_uc011ceh.2_Missense_Mutation_p.A190V|ADH1B_uc011cei.1_Missense_Mutation_p.A305V	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	345					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGTTATTAACGCATCCAGTGA	0.343000														116			23		0	0	1	0	0
ICAM2	3384	broad.mit.edu	37	17	62082714	62082714	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62082714G>A	uc002jdu.4	-	1	313	c.81C>T	c.(79-81)ttC>ttT	p.F27F	ICAM2_uc002jdw.4_Silent_p.F27F|ICAM2_uc010ded.3_Silent_p.F27F|ICAM2_uc002jdx.4_Silent_p.F27F|ICAM2_uc002jdv.4_Silent_p.F27F|ICAM2_uc010wpx.1_Silent_p.F27F	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	27					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						CGTGTACCTCGAATACCTTCT	0.587000														77			17		0	0	1	0	0
CASC4	113201	broad.mit.edu	37	15	44695169	44695169	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44695169T>C	uc001ztp.3	+	8	1476	c.1157T>C	c.(1156-1158)gTa>gCa	p.V386A	CASC4_uc001ztq.3_Intron|CASC4_uc001zto.2_Missense_Mutation_p.V386A	NM_138423	NP_612432	Q6P4E1	CASC4_HUMAN	Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA.	386						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GATGGTAACGTAGGTGAGTAT	0.507000														67			15		0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77304873	77304873	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77304873C>A	uc003hkb.4	-	5	898	c.745G>T	c.(745-747)Gca>Tca	p.A249S	CCDC158_uc003hkd.3_Missense_Mutation_p.A249S	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	249										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GATTTCAGTGCTTCAAGTTGA	0.363000														69			9		0.000442599	0.000455268	1	1	0
CWC22	57703	broad.mit.edu	37	2	180842944	180842944	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:180842944A>G	uc010frh.1	-	5	854	c.554T>C	c.(553-555)cTt>cCt	p.L185P	CWC22_uc002unp.2_Missense_Mutation_p.L185P	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	185	MIF4G.					catalytic step 2 spliceosome	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TTCTTGAAGAAGCTCTTGAAT	0.308000														19			7		0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49488219	49488219	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49488219C>T	uc001rtf.3	-	0	384	c.77G>A	c.(76-78)gGc>gAc	p.G26D		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	26					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						cggcccccggcccggcccgcA	0.682000														61			10		0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19963242	19963242	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19963242G>T	uc002zqz.3	-	10	2197	c.1927C>A	c.(1927-1929)Cta>Ata	p.L643I	ARVCF_uc002zqy.3_Missense_Mutation_p.L159I	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	643					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GGCAGGTCTAGCGTGTCAAAG	0.577000														91			21		1.64293e-13	1.91604e-13	1	1	0
CDKL3	51265	broad.mit.edu	37	5	133644398	133644398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:133644398G>A	uc003kzf.4	-	7	1021	c.902C>T	c.(901-903)gCt>gTt	p.A301V	CDKL3_uc011cxm.1_Missense_Mutation_p.A108V|CDKL3_uc011cxn.1_Non-coding_Transcript|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Missense_Mutation_p.A6V|CDKL3_uc011cxp.1_Missense_Mutation_p.A6V|CDKL3_uc011cxq.2_Missense_Mutation_p.A108V|CDKL3_uc003kzg.4_Missense_Mutation_p.A301V	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	301						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTAATTTAGCTTTCAGTTC	0.308000														16			4		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299823	23299823	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23299823C>T	uc002nrb.1	+	0		c.47C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CGGGATTTGGCGCGGCCTTTG	0.642000														41			14		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62130142	62130142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62130142G>A	uc002jdz.2	-	16	2364	c.2251C>T	c.(2251-2253)Cct>Tct	p.P751S		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	751	Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TTACTCACAGGGTTCTCCTTA	0.542000														68			12		0	0	1	0	0
YTHDC1	91746	broad.mit.edu	37	4	69203124	69203124	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:69203124C>A	uc003hdx.3	-	3	857	c.504G>T	c.(502-504)caG>caT	p.Q168H	YTHDC1_uc003hdy.3_Missense_Mutation_p.Q168H	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	168										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCTTAGAAGACTGGCTGGATC	0.448000														105			20		1.28384e-07	1.38782e-07	1	1	0
MLIP	90523	broad.mit.edu	37	6	54095632	54095632	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:54095632G>A	uc011dxa.2	+	11	2872	c.2839G>A	c.(2839-2841)Gga>Aga	p.G947R	MLIP_uc003pcg.4_Missense_Mutation_p.G412R|MLIP_uc003pch.4_Intron	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN	Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA.	412						PML body|nuclear envelope	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTTGCCCCAGGACCCTTCAG	0.512000														313			70		0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53497948	53497948	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53497948G>A	uc001sbv.3	+	1	184	c.96G>A	c.(94-96)acG>acA	p.T32T	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	32					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						ACACTGAGACGCACAGAGCCC	0.547000														137			19		0	0	1	0	0
CDC42BPA	8476	broad.mit.edu	37	1	227210999	227210999	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:227210999G>T	uc001hqr.3	-	30	5418	c.4475C>A	c.(4474-4476)aCc>aAc	p.T1492N	CDC42BPA_uc001hqq.3_Missense_Mutation_p.T791N|CDC42BPA_uc001hqs.3_Missense_Mutation_p.T1411N|CDC42BPA_uc009xes.3_Missense_Mutation_p.T1464N|CDC42BPA_uc010pvs.2_Missense_Mutation_p.T1472N|CDC42BPA_uc001hqp.3_Missense_Mutation_p.T648N|CDC42BPA_uc001hqt.2_Missense_Mutation_p.T370N|CDC42BPA_uc001hqu.1_Missense_Mutation_p.T699N	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	1505	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TAATCTAATGGTCTCCAACCC	0.274000														38			4		0.014758	0.0149061	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138650335	138650335	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138650335C>A	uc011mdq.2	+	9	909	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	KCNT1_uc011mdr.2_Missense_Mutation_p.L106M|KCNT1_uc010nbf.3_Missense_Mutation_p.L231M|KCNT1_uc004cgo.1_Missense_Mutation_p.L28M	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	279						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCACCCTGCTGTGCCTCGT	0.627000														147			37		3.76114e-14	4.41238e-14	1	1	0
CUBN	8029	broad.mit.edu	37	10	16877056	16877056	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16877056A>C	uc001ioo.3	-	63	10371	c.10319T>G	c.(10318-10320)cTt>cGt	p.L3440R		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3440	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCGATGCCAAGTGAATGAAA	0.418000														102			22		0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18141066	18141066	+	Missense_Mutation	SNP	G	A	A	rs144655159		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18141066G>A	uc002gsp.3	+	13	1944	c.1883G>A	c.(1882-1884)cGc>cAc	p.R628H		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	628				FDYQRK -> L (in Ref. 1; CAA60130).	cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GACTACCAGCGCAAGAGCCCT	0.637000														93			11		0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60697983	60697983	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60697983A>G	uc001nqi.3	+	5	1060	c.867_splice	c.e5-1	p.R289_splice	TMEM132A_uc001nqj.3_Splice_Site_p.R289_splice|TMEM132A_uc001nqk.3_Splice_Site_p.R302_splice|TMEM132A_uc001nql.1_Splice_Site_p.R302_splice	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	289						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCCCCAGGATCAAGGTGAA	0.592000														517			38		0	0	1	0	0
BCL9L	283149	broad.mit.edu	37	11	118770898	118770898	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118770898G>A	uc001pug.3	-	6	4099	c.3134C>T	c.(3133-3135)cCg>cTg	p.P1045L	BCL9L_uc009zal.3_Missense_Mutation_p.P1040L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	1045	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCCGCTAGGCGGGAGGGTACC	0.627000														97			14		0	0	1	0	0
ZNF585A	199704	broad.mit.edu	37	19	37644430	37644430	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37644430T>C	uc002ofo.1	-	4	602	c.371A>G	c.(370-372)tAt>tGt	p.Y124C	ZNF585A_uc002ofm.1_Missense_Mutation_p.Y69C|ZNF585A_uc002ofn.1_Missense_Mutation_p.Y69C	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	Homo sapiens zinc finger protein 585A (ZNF585A), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCCCCAGGATACATTTTTTG	0.383000														163			36		0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13323092	13323092	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13323092C>T	uc001imf.3	-	7	935	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	PHYH_uc001ime.3_Missense_Mutation_p.A183T	NM_006214	NP_001032626	O14832	PAHX_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase (PHYH), transcript variant 1, mRNA.	283					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	L-ascorbic acid binding|electron carrier activity|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TCGGCACTGGCGAAATGGCAG	0.418000														81			19		0	0	1	0	0
ZBTB4	57659	broad.mit.edu	37	17	7367040	7367040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7367040G>A	uc002ghc.4	-	3	1511	c.1261C>T	c.(1261-1263)Cgg>Tgg	p.R421W	ZBTB4_uc002ghd.4_Missense_Mutation_p.R421W	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGCTGCCCGCATGGGGAGC	0.632000														276			66		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6645358	6645358	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6645358C>T	uc001mem.1	-	20	7950	c.7549G>A	c.(7549-7551)Gct>Act	p.A2517T	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2517	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A2517T(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAGTCCACAGCGGCATGGCTG	0.632000														49			10		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200817753	200817753	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200817753T>G	uc001gvl.3	+	11	2159	c.1889T>G	c.(1888-1890)aTt>aGt	p.I630S	CAMSAP2_uc001gvk.3_Missense_Mutation_p.I619S|CAMSAP2_uc001gvm.3_Missense_Mutation_p.I603S	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	630						cytoplasm|microtubule	protein binding										TCAGAAGATATTCCTGAAACT	0.378000														133			43		0	0	1	0	0
NRN1	51299	broad.mit.edu	37	6	6002641	6002641	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:6002641T>C	uc003mwu.3	-	1	796	c.145A>G	c.(145-147)Atg>Gtg	p.M49V	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	49				SM -> TW (in Ref. 3; AAP97232).		anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		TAGTTGGCCATGCTGTCGCCC	0.617000														207			50		0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8153658	8153658	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8153658G>T	uc003sro.4	-	13	1483	c.1347C>A	c.(1345-1347)gcC>gcA	p.A449A	ICA1_uc010ktr.3_Silent_p.A478A|ICA1_uc003srm.3_Silent_p.A449A|ICA1_uc003srn.4_Silent_p.A375A|ICA1_uc003srq.3_Silent_p.A449A|ICA1_uc003srr.3_Silent_p.A448A|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	449					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCAGGTCTGAGGCAGCCTTAG	0.532000														136			35		5.43694e-19	6.59212e-19	1	1	0
KRTAP12-2	353323	broad.mit.edu	37	21	46086509	46086509	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:46086509A>T	uc002zfu.3	-	0	336	c.295T>A	c.(295-297)Tcc>Acc	p.S99T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	99	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						GACTGGCAGGAGGGGGCTGCA	0.642000														142			13		0	0	1	0	0
TLR2	7097	broad.mit.edu	37	4	154625213	154625213	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154625213C>T	uc003inq.3	+	2	1373	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	TLR2_uc003inr.3_Missense_Mutation_p.A385V|TLR2_uc003ins.3_Missense_Mutation_p.A385V|TLR2_uc021xtl.1_Missense_Mutation_p.A385V	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	385					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)				TGTGAGGATGCCTGGCCCTCT	0.348000														57			16		0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399574	107399574	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107399574C>A	uc003veq.3	+	5	1757	c.1427C>A	c.(1426-1428)cCt>cAt	p.P476H	CBLL1_uc011kme.2_Missense_Mutation_p.P355H|CBLL1_uc011kmf.2_Missense_Mutation_p.P475H	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	476	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L475H(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCCCACTTCCTGGACCACAT	0.463000														208			48		2.43139e-17	2.91435e-17	1	1	0
LRFN5	145581	broad.mit.edu	37	14	42356731	42356731	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:42356731A>G	uc001wvm.3	+	2	2101	c.903A>G	c.(901-903)ggA>ggG	p.G301G	LRFN5_uc010ana.3_Silent_p.G301G	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	301	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCCTGGAGGGACAAAGGGCAA	0.468000										HNSCC(30;0.082)				144			38		0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100356893	100356893	+	Missense_Mutation	SNP	G	A	A	rs147977213	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:100356893G>A	uc001dsi.1	+	21	3330	c.2930G>A	c.(2929-2931)cGa>cAa	p.R977Q	AGL_uc001dsj.1_Missense_Mutation_p.R977Q|AGL_uc001dsk.1_Missense_Mutation_p.R977Q|AGL_uc001dsl.1_Missense_Mutation_p.R977Q|AGL_uc001dsm.1_Missense_Mutation_p.R961Q|AGL_uc001dsn.1_Missense_Mutation_p.R960Q	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	977					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	p.R977*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CTTATTTCACGATCAGGAACT	0.323000														87			22		0	0	1	0	0
ZNF860	344787	broad.mit.edu	37	3	32031577	32031577	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:32031577C>T	uc011axg.2	+	1	1555	c.1006C>T	c.(1006-1008)Cat>Tat	p.H336Y	ZNF860_uc021wuv.1_Missense_Mutation_p.H336Y	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TAGGAGAATTCATACTGGAGA	0.378000														51			11		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18112762	18112762	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18112762C>T	uc021veh.1	+	0	487	c.487C>T	c.(487-489)Cga>Tga	p.R163*	KCNS3_uc002rcv.3_Nonsense_Mutation_p.R163*|KCNS3_uc002rcw.3_Nonsense_Mutation_p.R163*	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	163					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGACACACTGCGATTTGGTCA	0.498000														109			15		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24622171	24622171	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622171G>A	uc002zzp.4	-	7	1519	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	GGT5_uc002zzo.4_Missense_Mutation_p.R368W|GGT5_uc002zzr.4_Missense_Mutation_p.R336W|GGT5_uc002zzq.4_Missense_Mutation_p.R336W|GGT5_uc011ajm.2_Missense_Mutation_p.R291W|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	368					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGTCCCCCCGGCCATCGATC	0.697000														91			16		0	0	1	0	0
RPA2	6118	broad.mit.edu	37	1	28218701	28218701	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:28218701G>A	uc001bpe.1	-	8	1068	c.786C>T	c.(784-786)gaC>gaT	p.D262D	RPA2_uc010ofp.1_Silent_p.D166D	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	262	Asp/Glu-rich (acidic).|Interaction with TIPIN (By similarity).				DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTAAAATGGTCATCATCCA	0.403000								Direct reversal of damage;Nucleotide excision repair (NER)						98			10		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44163605	44163605	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163605G>T	uc001cjx.3	+	18	2928	c.2762G>T	c.(2761-2763)aGg>aTg	p.R921M	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	921	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GAAGTGGTCAGGCTCACCACC	0.493000														146			18		5.3912e-06	5.69533e-06	1	1	0
ELAVL3	1995	broad.mit.edu	37	19	11568960	11568960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11568960G>A	uc002mry.1	-	4	1009	c.629C>T	c.(628-630)aCg>aTg	p.T210M	ELAVL3_uc002mrx.1_Missense_Mutation_p.T210M	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C) (ELAVL3), transcript variant 1, mRNA.	210					cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.T210T(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGCCTGCCCCGTCTTCTGACT	0.627000														175			38		0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127975620	127975620	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127975620C>T	uc003vmp.2	-	7	1038	c.923G>A	c.(922-924)aGc>aAc	p.S308N	RBM28_uc011koj.1_Missense_Mutation_p.S167N|RBM28_uc011kok.1_Missense_Mutation_p.S255N	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	308					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTCCTCAGTGCTGGTATCACT	0.423000														67			14		0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160253413	160253413	+	Silent	SNP	G	A	A	rs141911166		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160253413G>A	uc001fvs.2	-	1	114	c.87C>T	c.(85-87)ttC>ttT	p.F29F	DCAF8_uc010pjc.1_Intron|DCAF8_uc021pbq.1_Silent_p.F29F|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Intron	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TGGCTTTATCGAAATCATCAA	0.532000														87			32		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63987987	63987987	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63987987G>T	uc001nyl.2	+	11	1552	c.1403G>T	c.(1402-1404)aGc>aTc	p.S468I	FERMT3_uc001nym.2_Missense_Mutation_p.S464I	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	468	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						AGCTACACCAGCGAGGTGCAG	0.716000														52			17		2.23348e-06	2.37297e-06	1	1	0
COPA	1314	broad.mit.edu	37	1	160277034	160277034	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160277034C>T	uc001fvv.4	-	14	1614	c.1220_splice	c.e14-1	p.A407_splice	COPA_uc009wti.3_Splice_Site_p.A407_splice|COPA_uc009wtj.1_Splice_Site_p.A353_splice	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	407					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCTTCAGGCGCTGAGAAGA	0.537000														176			70		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33689517	33689517	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33689517G>A	uc021qfs.1	+	19	5491	c.5367G>A	c.(5365-5367)ctG>ctA	p.L1789L		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1789						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CAGCCAACCTGCACCCCAGCC	0.672000														97			26		0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184064584	184064584	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184064584C>T	uc003foi.3	-	23	2631	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	CLCN2_uc003foh.3_Missense_Mutation_p.R325Q|CLCN2_uc010hya.2_Missense_Mutation_p.R819Q|CLCN2_uc011brl.2_Missense_Mutation_p.R807Q|CLCN2_uc011brm.2_Missense_Mutation_p.R792Q	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	836	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GATGGCCTTCCGGAGCTGGAA	0.612000														138			28		0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45774951	45774951	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45774951C>T	uc002pbb.2	+	7	1102	c.771C>T	c.(769-771)gaC>gaT	p.D257D	MARK4_uc002paz.2_Missense_Mutation_p.T68M|MARK4_uc002pba.2_Silent_p.D257D|MARK4_uc002pbc.1_Silent_p.D123D	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	257	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGCCCTTCGACGGGCACAACC	0.667000														170			53		0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75959104	75959104	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:75959104G>A	uc003hih.2	+	2	1034	c.781G>A	c.(781-783)Gcc>Acc	p.A261T		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	261					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CAGCATCGCCGCCATTACCGT	0.502000														19			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140236636	140236636	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140236636G>A	uc003lhx.2	+	0	1003	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	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_Missense_Mutation_p.V335I|PCDHAC2_uc011dad.2_Missense_Mutation_p.V335I	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	351	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGCACGGTCCTAGTGGA	0.418000														148			35		0	0	1	0	0
C14orf118	55668	broad.mit.edu	37	14	76644343	76644343	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76644343G>A	uc001xsh.3	+	6	1151	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	C14orf118_uc001xsi.3_Intron|C14orf118_uc001xsl.3_Intron	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	355								p.K354N(1)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		AGAATAAAGCGTTGGCTTCTG	0.343000														36			6		0	0	1	0	0
SLC39A4	55630	broad.mit.edu	37	8	145638654	145638654	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145638654C>T	uc003zcq.3	-	9	1694	c.1594G>A	c.(1594-1596)Gcc>Acc	p.A532T	SLC39A4_uc003zcm.1_Missense_Mutation_p.A34T|SLC39A4_uc003zcn.3_Missense_Mutation_p.A34T|SLC39A4_uc003zco.3_Missense_Mutation_p.A256T|SLC39A4_uc003zcp.3_Missense_Mutation_p.A507T	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	532						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			CAGAACACGGCCAGCGAGGTG	0.711000														40			7		0	0	1	0	0
CCDC138	165055	broad.mit.edu	37	2	109473334	109473334	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:109473334C>A	uc002ten.1	+	12	1661	c.1601C>A	c.(1600-1602)gCt>gAt	p.A534D	CCDC138_uc002teo.1_Missense_Mutation_p.A534D|CCDC138_uc002tep.1_Missense_Mutation_p.A218D|CCDC138_uc010fjm.1_Missense_Mutation_p.A218D	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	534										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GAGTATCAGGCTGTTCCAGTA	0.373000														143			61		1.74971e-23	2.16752e-23	1	1	0
TBP	6908	broad.mit.edu	37	6	170881346	170881346	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:170881346C>T	uc003qxu.3	+	7	1292	c.1013C>T	c.(1012-1014)aCg>aTg	p.T338M	TBP_uc011ehf.2_Missense_Mutation_p.T318M|TBP_uc003qxt.3_Missense_Mutation_p.T338M	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	338					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTCAGGAAGACGACGTAATGG	0.393000														122			22		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013581	17013581	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17013581C>T	uc002nfb.3	-	34	4736	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P	CPAMD8_uc002nfd.1_Silent_p.P33P	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1521						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCATGGGGGGCGGGCGTCCCT	0.647000														236			64		0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14200027	14200027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:14200027G>A	uc010xnl.2	-	2	784	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W		NM_138352	NP_612361	Q6SPF0	SAMD1_HUMAN	Homo sapiens sterile alpha motif domain containing 1 (SAMD1), mRNA.	368						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		TGAGGTCCCCGCTCGCCGTTA	0.642000														44			5		0	0	1	0	0
CXCR4	7852	broad.mit.edu	37	2	136872482	136872482	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136872482G>T	uc002tuz.3	-	1	1111	c.1016C>A	c.(1015-1017)tCt>tAt	p.S339Y	CXCR4_uc002tuy.3_Missense_Mutation_p.S343Y|CXCR4_uc010fnk.3_Missense_Mutation_p.S324Y	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	339					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	p.R338*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGTGGAAACAGATGAATGTCC	0.418000														36			7		0.27861	0.278893	1	1	0
DENND3	22898	broad.mit.edu	37	8	142146842	142146842	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146842G>A	uc003yvy.3	+	1	375	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	DENND3_uc003yvw.1_Missense_Mutation_p.V46I|DENND3_uc003yvx.3_Missense_Mutation_p.V113I|DENND3_uc010mep.3_Missense_Mutation_p.V46I	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	33	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GGATGTCGCCGTCCCGGGCGG	0.687000														35			14		0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56489582	56489582	+	Missense_Mutation	SNP	C	T	T	rs56387488		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56489582C>T	uc001sjh.3	+	16	2323	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Missense_Mutation_p.R40W|ERBB3_uc010sqc.2_Missense_Mutation_p.R624W|ERBB3_uc009zok.3_Missense_Mutation_p.R125W|ERBB3_uc001sjk.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	683			R -> W (in dbSNP:rs56387488).		Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATACTTGGAACGGGGTGAGGT	0.443000														176			29		0	0	1	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753969	41753969	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:41753969C>T	uc011duf.1	+	6	934	c.686C>T	c.(685-687)gCc>gTc	p.A229V	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	189						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGACGTTATGCCCTGCCTGGG	0.672000														152			35		0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7683960	7683960	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7683960C>T	uc021pmv.1	-	2	335	c.229G>A	c.(229-231)Gct>Act	p.A77T	ITIH5_uc001ijr.2_Missense_Mutation_p.A77T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	77	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TCTTCAGAAGCTCTGTTCAGC	0.458000														123			24		0	0	1	0	0
abParts	0	broad.mit.edu	37	15	22473122	22473122	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:22473122C>T	uc001yuj.2	-	6		c.206G>A								Parts of antibodies, mostly variable regions.																		CCAGTTACTACTGCTGATGGA	0.622000														327			49		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614617	45614617	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:45614617G>A	uc003tne.4	+	0	493	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	ADCY1_uc003tnd.3_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	159					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	gccAGCGACCGCCGAACAAGG	0.697000														75			19		0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141312861	141312861	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141312861C>T	uc003lls.3	+	7	914	c.792C>T	c.(790-792)gcC>gcT	p.A264A	KIAA0141_uc003llt.3_Silent_p.A264A	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	264					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGCAGCCTTTTCTTACT	0.557000														122			29		0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131110845	131110845	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131110845G>A	uc004but.3	+	3	863	c.578G>A	c.(577-579)aGc>aAc	p.S193N	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	193					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTCCATGCCAGCCTGGACCCC	0.647000														164			25		0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968369	64968369	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:64968369C>A	uc001jmn.3	-	9	3360	c.3060G>T	c.(3058-3060)gaG>gaT	p.E1020D	JMJD1C_uc001jml.3_Missense_Mutation_p.E801D|JMJD1C_uc001jmm.3_Missense_Mutation_p.E732D|JMJD1C_uc010qiq.2_Missense_Mutation_p.E838D|JMJD1C_uc009xpi.3_Missense_Mutation_p.E838D|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.E57D	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1020					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GACGGTGTTCCTCTTTGTATT	0.408000														196			49		2.13384e-23	2.64232e-23	1	1	0
PCMTD2	55251	broad.mit.edu	37	20	62895791	62895791	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62895791G>A	uc002yil.4	+	2	517	c.317G>A	c.(316-318)gGt>gAt	p.G106D	PCMTD2_uc002yim.4_Missense_Mutation_p.G106D	NM_018257	NP_060727	Q9NV79	PCMD2_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2 (PCMTD2), transcript variant 1, mRNA.	106						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGTCCTTTTGGTGTGAACCAT	0.388000														67			13		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233482285	233482285	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233482285A>C	uc001hvt.4	+	1	1164	c.903A>C	c.(901-903)aaA>aaC	p.K301N	KIAA1804_uc001hvs.1_Missense_Mutation_p.K301N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	301	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGACCACCAAAATGAGCACAG	0.458000														117			16		0	0	1	0	0
SST	6750	broad.mit.edu	37	3	187386922	187386922	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:187386922C>T	uc003frn.3	-	1	404	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	94					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GTGCCATAGCCGGGTTTGAGT	0.493000														376			89		0	0	1	0	0
SLC50A1	55974	broad.mit.edu	37	1	155110570	155110570	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155110570T>G	uc001fhj.4	+	4	660	c.560T>G	c.(559-561)aTc>aGc	p.I187S	SLC50A1_uc001fhk.4_Missense_Mutation_p.I132S|SLC50A1_uc001fhl.4_Missense_Mutation_p.I133S	NM_018845	NP_061333	Q9BRV3	SWET1_HUMAN	Homo sapiens solute carrier family 50 (sugar transporter), member 1 (SLC50A1), transcript variant 1, mRNA.	187	Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						GATCCCTATATCATGGTAAGC	0.498000														147			8		0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132445370	132445370	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:132445370G>A	uc004exc.1	-	3	1005	c.793C>T	c.(793-795)Cca>Tca	p.P265S	GPC4_uc011mvg.1_Missense_Mutation_p.P195S	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	265					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TTGTAACATGGCTTCACAGTC	0.468000														215			55		0	0	1	0	0
BST2	684	broad.mit.edu	37	19	17516300	17516300	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17516300G>A	uc002ngl.3	-	0	85	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	AK311380_uc010eat.1_5'Flank|AK311380_uc002ngm.1_5'Flank	NM_004335	NP_004326	Q10589	BST2_HUMAN	Homo sapiens bone marrow stromal cell antigen 2 (BST2), mRNA.	29					B cell activation|cell proliferation|cell-cell signaling|defense response to virus|humoral immune response|innate immune response|multicellular organismal development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|anchored to membrane|integral to plasma membrane|late endosome	protein homodimerization activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(2)	9						AGGAGCACCAGAATTCCTATC	0.542000														165			39		0	0	1	0	0
MMP14	4323	broad.mit.edu	37	14	23306057	23306057	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23306057C>A	uc001whc.3	+	0	265	c.31C>A	c.(31-33)Ctc>Atc	p.L11I		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	11						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		CCCCCGTTGTCTCCTGCTCCC	0.726000											OREG0022586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			18		2.94398e-08	3.21697e-08	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149500528	149500528	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149500528C>A	uc003lro.3	-	17	2978	c.2509G>T	c.(2509-2511)Ggc>Tgc	p.G837C	PDGFRB_uc010jhd.3_Missense_Mutation_p.G676C	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	837	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGCTTGCCTTCACAGATG	0.582000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									119			32		6.04164e-23	7.46519e-23	1	1	0
KEAP1	9817	broad.mit.edu	37	19	10599948	10599948	+	Missense_Mutation	SNP	G	A	A	rs111830952		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10599948G>A	uc002moq.1	-	4	1784	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	KEAP1_uc002mop.1_Intron|KEAP1_uc002mor.1_Missense_Mutation_p.T543M	NM_012289	NP_987096	Q14145	KEAP1_HUMAN	Homo sapiens kelch-like ECH-associated protein 1 (KEAP1), transcript variant 2, mRNA.	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GAAAGTCCACGTCTCTGTTTC	0.602000														75			13		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216846	154216846	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216846G>A	uc003inh.2	+	5	1253	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	TRIM2_uc003ing.2_Missense_Mutation_p.A363T	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	363						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		AACCGGCAACGCCTACCTCAC	0.617000														105			19		0	0	1	0	0
AACS	65985	broad.mit.edu	37	12	125576018	125576018	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:125576018G>A	uc001uhc.3	+	4	725	c.519G>A	c.(517-519)gcG>gcA	p.A173A	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Silent_p.A173A|AACS_uc009zyh.3_Non-coding_Transcript	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	173					fatty acid metabolic process	cytosol	ATP binding|acetoacetate-CoA ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCTGGCTGCGGCAAGCATTG	0.572000														136			27		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702713	40702713	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:40702713G>T	uc010mmj.3	+	3	399	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	124	Pro-rich.					integral to membrane		p.G124G(1)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGACCCCCCAGGTGAGGTGGG	0.617000														136			22		3.90053e-15	4.60698e-15	1	1	0
CDKL5	6792	broad.mit.edu	37	X	18646512	18646512	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18646512C>T	uc004cym.3	+	17	2771	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	CDKL5_uc004cyn.3_Missense_Mutation_p.R840C|CDKL5_uc022btn.1_Missense_Mutation_p.R831C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	840					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity	p.R840R(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AAAATCACTGCGCAAGTTGTT	0.493000														491			132		0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65332855	65332855	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65332855G>A	uc001dbu.1	-	6	933	c.684C>T	c.(682-684)tcC>tcT	p.S228S	JAK1_uc009wam.1_Silent_p.S228S	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	228	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCTGTCTGATGGACTTATTCA	0.363000			Mis		ALL									93			27		0	0	1	0	0
GJC2	57165	broad.mit.edu	37	1	228345534	228345534	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228345534G>T	uc021pkg.1	+	0	75	c.75G>T	c.(73-75)aaG>aaT	p.K25N	GJC2_uc001hsk.3_Missense_Mutation_p.K25N	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	25					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCGTGGGCAAGGTGTGGCTCA	0.647000														45			11		6.42651e-13	7.45321e-13	1	1	0
IRF9	10379	broad.mit.edu	37	14	24635385	24635385	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24635385G>A	uc001wmq.3	+	8	1982	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.A172T	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	388					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity	p.A388T(2)		NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GCAGCAGGCAGCCATTCTGTC	0.527000														55			15		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49929221	49929221	+	Nonsense_Mutation	SNP	G	A	A	rs150876558	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49929221G>A	uc003cxy.4	-	14	3586	c.3322C>T	c.(3322-3324)Cga>Tga	p.R1108*	MST1R_uc011bdc.2_Nonsense_Mutation_p.R1059*	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	1108	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CATTGGATTCGATTCTGGGCC	0.532000														222			47		0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53700441	53700441	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:53700441A>C	uc003dgv.4	+	6	1158	c.995A>C	c.(994-996)gAa>gCa	p.E332A	CACNA1D_uc003dgu.4_Missense_Mutation_p.E332A|CACNA1D_uc003dgy.4_Missense_Mutation_p.E332A|CACNA1D_uc003dgw.4_5'UTR	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	332					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.T331T(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AATGGCACGGAATGTAGGAGT	0.527000														300			64		0	0	1	0	0
ZNF619	285267	broad.mit.edu	37	3	40523406	40523406	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:40523406C>T	uc011azb.2	+	2	384	c.77C>T	c.(76-78)gCt>gTt	p.A26V	ZNF619_uc011aza.2_5'UTR|ZNF619_uc011azc.2_Missense_Mutation_p.A26V|ZNF619_uc011azd.2_Intron|ZNF619_uc003ckj.3_5'UTR|ZNF619_uc021wwh.1_5'UTR	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	26					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GAGGATGTGGCTGTGTACTTC	0.517000														284			13		0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17369103	17369103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17369103C>T	uc002nfs.1	-	7	1251	c.1138G>A	c.(1138-1140)Gca>Aca	p.A380T	USHBP1_uc002nfr.1_Missense_Mutation_p.A6T|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.A316T	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	380							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTTTCAGCTGCTTGCAGGTCA	0.592000														141			31		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72191130	72191130	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72191130G>A	uc002atl.4	-	24	4187	c.3714C>T	c.(3712-3714)gcC>gcT	p.A1238A	MYO9A_uc010biq.3_Silent_p.A858A|MYO9A_uc002atn.1_Silent_p.A1219A|MYO9A_uc002atk.3_5'UTR|MYO9A_uc002atm.1_5'UTR	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1238	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGGCTTTGGGCTCTCTCCT	0.473000														242			63		0	0	1	0	0
HNRNPK	3190	broad.mit.edu	37	9	86586806	86586806	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86586806G>T	uc004ang.4	-	10	1168	c.944C>A	c.(943-945)cCt>cAt	p.P315H	HNRNPK_uc011lsw.2_Missense_Mutation_p.P75H|HNRNPK_uc004and.4_Missense_Mutation_p.P75H|HNRNPK_uc004anf.4_Missense_Mutation_p.P315H|HNRNPK_uc004anh.4_Missense_Mutation_p.P291H|HNRNPK_uc011lsx.2_Missense_Mutation_p.P291H|HNRNPK_uc004anl.4_Missense_Mutation_p.P315H|HNRNPK_uc004anm.4_Missense_Mutation_p.P315H|MIR7-1_uc004ano.1_5'Flank	NM_031262	NP_112552	P61978	HNRPK_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein K (HNRNPK), transcript variant 3, mRNA.	315	2 X 22 AA approximate repeats.|2 X 6 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ZIK1 (By similarity).|Poly-Pro.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						CCCCCCTCTAGGTGGTGGTGG	0.527000														170			38		7.53189e-24	9.34108e-24	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32633981	32633981	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32633981G>A	uc003zrg.1	-	0	1687	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	533					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)		TTCTCATCAGGAATTTCCAAA	0.483000														214			42		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20135688	20135688	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20135688G>T	uc002gwq.3	+	6	2431	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V	SPECC1_uc010cqx.3_Missense_Mutation_p.G774V|SPECC1_uc002gwr.3_Missense_Mutation_p.G774V|SPECC1_uc002gws.3_Missense_Mutation_p.G774V|SPECC1_uc002gwv.3_Missense_Mutation_p.G693V|SPECC1_uc010vzf.2_Missense_Mutation_p.G114V|SPECC1_uc002gwu.3_Missense_Mutation_p.G693V|SPECC1_uc002gwt.3_Missense_Mutation_p.G693V	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	774						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		CAGGGCCACGGCAGGGTGGTC	0.642000														61			16		1.5739e-10	1.77479e-10	1	1	0
CREB3L2	64764	broad.mit.edu	37	7	137612945	137612945	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137612945C>T	uc003vtw.3	-	1	666	c.270G>A	c.(268-270)cgG>cgA	p.R90R	CREB3L2_uc003vtx.2_Silent_p.R90R|CREB3L2_uc003vty.4_Silent_p.R90R|CREB3L2_uc003vtv.3_Silent_p.R27R	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	90					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GCGACTGGGCCCGAGGCTCCT	0.587000			T	FUS	fibromyxoid sarcoma									33			9		0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37524621	37524621	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37524621C>T	uc003aqv.1	-	9	1302	c.1171G>A	c.(1171-1173)Gac>Aac	p.D391N		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	391			D -> E (in dbSNP:rs228942).		interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TCATCAGGGTCTTCCTCTGAG	0.607000														133			35		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57175214	57175214	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57175214G>A	uc010ygn.2	-	1	1580	c.1353C>T	c.(1351-1353)tgC>tgT	p.C451C		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.									p.S450R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						AGGCCTTGCCGCACTCGGGGC	0.672000														240			71		0	0	1	0	0
NDUFB5	4711	broad.mit.edu	37	3	179336307	179336307	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179336307A>G	uc003fkc.3	+	4	476	c.447A>G	c.(445-447)ttA>ttG	p.L149L	NDUFB5_uc021xhu.1_Intron|NDUFB5_uc003fke.3_Silent_p.L97L|NDUFB5_uc003fkd.3_Non-coding_Transcript	NM_002492	NP_002483	O43674	NDUB5_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa (NDUFB5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	AGGCTGAATTACGGTAGGAAA	0.378000														63			10		0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24888729	24888729	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:24888729C>T	uc003sxf.3	-	11	1630	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Intron|OSBPL3_uc003sxh.3_Missense_Mutation_p.D378N|OSBPL3_uc003sxi.3_Intron|OSBPL3_uc003sxj.1_Intron|OSBPL3_uc003sxk.1_Intron	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	409					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						GCGGGGGAGTCGAGGAGCAGA	0.542000														227			29		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4118509	4118509	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4118509C>T	uc003zhx.1	-	3	1682	c.969G>A	c.(967-969)tcG>tcA	p.S323S	GLIS3_uc003zic.1_Silent_p.S323S|GLIS3_uc003zie.1_Silent_p.S323S|GLIS3_uc010mhh.1_Silent_p.S198S|GLIS3_uc003zid.1_Silent_p.S101S|GLIS3_uc010mhi.1_Silent_p.S130S|GLIS3_uc003zif.1_Silent_p.S101S|GLIS3_uc003zih.1_Silent_p.S101S|GLIS3_uc003zig.1_Silent_p.S167S|GLIS3_uc003zhw.1_Silent_p.S168S|GLIS3_uc003zhy.1_Silent_p.S101S|GLIS3_uc003zhz.1_Silent_p.S101S|GLIS3_uc003zib.1_Silent_p.S167S|GLIS3_uc010mhg.1_Silent_p.S101S	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	168					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)		AGGACGTGGGCGACGTGCGGA	0.647000														200			10		0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83848714	83848714	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83848714C>T	uc011dyy.2	+	20	5186	c.4926C>T	c.(4924-4926)caC>caT	p.H1642H	DOPEY1_uc003pjs.1_Silent_p.H1651H|DOPEY1_uc010kbl.1_Silent_p.H1642H|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1651					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGCATCAGCACTGTGCATGTA	0.458000														110			28		0	0	1	0	0
SLC9B2	133308	broad.mit.edu	37	4	103971468	103971468	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103971468A>G	uc003hwx.4	-	4	1386	c.514T>C	c.(514-516)Tgg>Cgg	p.W172R	SLC9B2_uc010iln.2_Missense_Mutation_p.W24R|SLC9B2_uc003hwy.3_Missense_Mutation_p.W172R|SLC9B2_uc011cew.2_Missense_Mutation_p.W115R|SLC9B2_uc011cex.1_Missense_Mutation_p.W115R|SLC9B2_uc011cey.2_Missense_Mutation_p.W115R	NM_178833	NP_849155	Q86UD5	NHDC2_HUMAN	Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 2 (SLC9B2), nuclear gene encoding mitochondrial protein, mRNA.	172					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										GAGGAAGACCACTTGTGCTTG	0.403000														77			20		0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107923465	107923465	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:107923465C>T	uc001pjv.3	+	4	1157	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	CUL5_uc001pju.3_Non-coding_Transcript	NM_003478	NP_003469	Q93034	CUL5_HUMAN	Homo sapiens cullin 5 (CUL5), mRNA.	164					G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		GAAGCTGGTACATGCTGAGAG	0.353000														45			8		0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408232	29408232	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29408232C>T	uc011dlp.2	+	0	517	c.440C>T	c.(439-441)gCg>gTg	p.A147V	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S146L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGGGTCGGCGTGGGCCTGT	0.622000														206			60		0	0	1	0	0
AJAP1	55966	broad.mit.edu	37	1	4772744	4772744	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:4772744C>A	uc001alm.1	+	1	1195	c.814C>A	c.(814-816)Ctg>Atg	p.L272M	AJAP1_uc001aln.3_Missense_Mutation_p.L272M	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	272					cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CCCAAGGATTCTGGGGGAGGC	0.602000														214			23		1.10513e-12	1.27896e-12	1	1	0
SZT2	23334	broad.mit.edu	37	1	43896456	43896456	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43896456C>T	uc001cjk.2	+	30	4683	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C		NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.	1590						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCTACCTGCCTGGGTGAGT	0.592000														265			21		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176863860	176863860	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:176863860C>T	uc001glc.3	-	16	2990	c.2778G>A	c.(2776-2778)gcG>gcA	p.A926A	ASTN1_uc001glb.1_Silent_p.A926A|ASTN1_uc001gld.1_Silent_p.A926A	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	934					cell migration|neuron cell-cell adhesion	integral to membrane		p.A926V(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGACTCCAGCCGCCATGTGCT	0.607000														242			63		0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	119093522	119093522	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119093522G>A	uc004bjn.3	+	11	3529	c.3148_splice	c.e11-1	p.V1050_splice	PAPPA_uc011lxp.1_Splice_Site_p.V745_splice|PAPPA_uc011lxq.2_Splice_Site_p.V425_splice	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1050					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TATTTTTCCAGGTGTGTCGAA	0.403000														58			13		0	0	1	0	0
CDKN2AIP	55602	broad.mit.edu	37	4	184368400	184368400	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:184368400A>T	uc003ivp.1	+	2	1725	c.1563A>T	c.(1561-1563)gaA>gaT	p.E521D	CDKN2AIP_uc003ivq.1_Missense_Mutation_p.E266D	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	521	DRBM.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAAGCAAAGAAAATGCAAAAG	0.378000														112			15		0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172523587	172523587	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:172523587G>A	uc003fii.2	+	19	2218	c.2080G>A	c.(2080-2082)Gct>Act	p.A694T	ECT2_uc010hwv.1_Missense_Mutation_p.A725T|ECT2_uc003fih.2_Missense_Mutation_p.A693T|ECT2_uc003fij.1_Missense_Mutation_p.A694T|ECT2_uc003fik.1_Missense_Mutation_p.A694T|ECT2_uc003fil.1_Missense_Mutation_p.A725T|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	694	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CCGACCCCCAGCTTCTCTTAA	0.403000														66			13		0	0	1	0	0
ZNF234	10780	broad.mit.edu	37	19	44660497	44660497	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44660497G>T	uc002oym.3	+	5	635	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ZNF234_uc002oyl.4_Missense_Mutation_p.D110Y	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	110	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GATTGCAAGTGATTTAATCAA	0.448000														121			34		2.20262e-25	2.74595e-25	1	1	0
MPI	4351	broad.mit.edu	37	15	75190002	75190002	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:75190002T>C	uc002azc.1	+	7	1208	c.1203T>C	c.(1201-1203)aaT>aaC	p.N401N	MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Silent_p.N351N|MPI_uc002aze.1_Silent_p.N340N	NM_002435	NP_002426	P34949	MPI_HUMAN	Homo sapiens mannose phosphate isomerase (MPI), mRNA.	401					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TTGGGGCCAATGAGAGTGTCT	0.567000														140			24		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130884283	130884283	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130884283G>T	uc003eny.3	+	11	1422	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	NEK11_uc003enx.3_Nonsense_Mutation_p.E366*|NEK11_uc003eoa.3_Nonsense_Mutation_p.E366*|NEK11_uc003enz.3_Nonsense_Mutation_p.E184*|NEK11_uc011blk.2_Nonsense_Mutation_p.E218*|NEK11_uc011bll.2_Nonsense_Mutation_p.E261*|NEK11_uc011blm.2_Nonsense_Mutation_p.E366*	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	366					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						GATTGTGGAAGAAAAATATGA	0.323000														47			11		9.70103e-10	1.08264e-09	1	1	0
ZNF764	92595	broad.mit.edu	37	16	30567369	30567369	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30567369C>T	uc002dyq.3	-	2	512	c.373G>A	c.(373-375)Gac>Aac	p.D125N	ZNF764_uc002dyr.2_Missense_Mutation_p.D124N	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GCCACAGGGTCGGGCTTCTCC	0.622000														172			34		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902782	236902782	+	Missense_Mutation	SNP	C	T	T	rs1150181		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236902782C>T	uc001hyf.2	+	9	1261	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ACTN2_uc001hyg.2_Missense_Mutation_p.R145W|ACTN2_uc009xgi.1_Missense_Mutation_p.R353W|ACTN2_uc010pxu.1_Intron	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	353					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GACCAAGCTGCGGATCAGCAA	0.612000														130			25		0	0	1	0	0
LRRC16A	55604	broad.mit.edu	37	6	25515950	25515950	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25515950C>A	uc011djw.2	+	20	2048	c.1680C>A	c.(1678-1680)gtC>gtA	p.V560V	LRRC16A_uc010jpy.3_Silent_p.V560V	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	560					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGACTGAGGTCACCATCATCA	0.557000														27			6		0.00307968	0.00313564	1	1	0
STRN4	29888	broad.mit.edu	37	19	47223960	47223960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47223960G>A	uc002pfm.3	-	16	2215	c.2182C>T	c.(2182-2184)Cgc>Tgc	p.R728C	STRN4_uc002pfl.3_Missense_Mutation_p.R721C|STRN4_uc010xyf.2_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	721						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	p.R721C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TGCTTCTTGCGGTGGGCCGTG	0.627000														81			17		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91805638	91805638	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91805638G>A	uc010aty.3	-	7	947	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	CCDC88C_uc010twk.1_Missense_Mutation_p.R229C	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	265					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCCTGACGCGCCGCAGCCTG	0.627000														64			17		0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54579107	54579107	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:54579107G>T	uc002xxa.3	-	0	906	c.121C>A	c.(121-123)Ctg>Atg	p.L41M		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	41						cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CACACCACCAGACACTTGCCC	0.692000														115			23		2.39556e-15	2.83283e-15	1	1	0
KLHL1	57626	broad.mit.edu	37	13	70681635	70681635	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:70681635C>A	uc001vip.3	-	0	991	c.197G>T	c.(196-198)aGc>aTc	p.S66I	KLHL1_uc010thm.2_Missense_Mutation_p.S66I|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	66	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCAGAAAGTGCTCACACCGCT	0.592000														152			41		1.59361e-14	1.87298e-14	1	1	0
RAB11FIP3	9727	broad.mit.edu	37	16	532617	532617	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:532617G>A	uc002chf.3	+	3	1335	c.996G>A	c.(994-996)gtG>gtA	p.V332V	RAB11FIP3_uc010uuf.2_Silent_p.V36V|RAB11FIP3_uc010uug.2_Silent_p.V22V	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	332					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCACCCTGGTGCACCCTGAGC	0.657000														119			32		0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37020568	37020568	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:37020568G>A	uc003jkl.4	+	25	5517	c.5018G>A	c.(5017-5019)cGt>cAt	p.R1673H	NIPBL_uc003jkk.4_Missense_Mutation_p.R1673H	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1673					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGTTTTCTCGTAAATTCTAT	0.343000														49			5		0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685354	50685354	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50685354G>A	uc003day.2	+	12	1668	c.1026G>A	c.(1024-1026)atG>atA	p.M342I	MAPKAPK3_uc003daz.2_Missense_Mutation_p.M342I|MAPKAPK3_uc003dba.2_Missense_Mutation_p.M342I|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.M342I	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	342					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity	p.M342I(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		TGGCCACTATGCGGGTAGACT	0.557000														192			32		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753836	49753836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753836C>T	uc003cxh.3	+	34	3512	c.3426C>T	c.(3424-3426)agC>agT	p.S1142S	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1142						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)		GCCTAGAGAGCGTGGACCACT	0.632000														504			103		0	0	1	0	0
CHAF1A	10036	broad.mit.edu	37	19	4409479	4409479	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4409479C>T	uc002mal.3	+	2	783	c.683C>T	c.(682-684)gCt>gTt	p.A228V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	228	Binds to CBX1 chromo shadow domain.				DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGTGAAGCTGGGGGCATC	0.592000								Chromatin Structure						118			24		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113166795	113166795	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113166795T>C	uc010mtz.3	-	38	9815	c.9478A>G	c.(9478-9480)Aca>Gca	p.T3160A	SVEP1_uc010mty.3_Missense_Mutation_p.T1086A	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3160	Sushi 29.				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						CAGGTGAATGTATCTGTATCT	0.393000														265			64		0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94192582	94192582	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:94192582C>T	uc009ywj.2	-	12	1821	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	MRE11A_uc001peu.2_Missense_Mutation_p.D498N|MRE11A_uc001pev.2_Missense_Mutation_p.D498N			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	498					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ACCTCCTCATCGATTTTGTCT	0.358000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder					95			14		0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27506672	27506672	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27506672G>A	uc002dov.2	-	14	2532	c.2492C>T	c.(2491-2493)aCg>aTg	p.T831M	GTF3C1_uc002dou.3_Missense_Mutation_p.T831M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	831						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTGCTTTATCGTTCTCCGTTC	0.602000														109			18		0	0	1	0	0
CDCA3	83461	broad.mit.edu	37	12	6958344	6958344	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6958344G>A	uc001qrg.2	-	5	798	c.670C>T	c.(670-672)Cta>Tta	p.L224L	CDCA3_uc001qre.2_Intron|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	224					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						TTTTCACTTAGGGGTGAAGGC	0.512000														64			7		0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123265728	123265728	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123265728A>G	uc001udc.3	+	2	409	c.247A>G	c.(247-249)Act>Gct	p.T83A	CCDC62_uc010tah.2_Non-coding_Transcript|CCDC62_uc001ude.3_5'UTR	NM_201435	NP_958843	Q6P9F0	CCD62_HUMAN	Homo sapiens coiled-coil domain containing 62 (CCDC62), transcript variant 2, mRNA.	83						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		ACATAAAAGAACTGAAATAAT	0.373000														75			15		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8175725	8175725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:8175725G>A	uc003wsh.4	-	4	4160	c.4160C>T	c.(4159-4161)gCg>gTg	p.A1387V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1387							ATP binding|non-membrane spanning protein tyrosine kinase activity										CCCGGGCTCCGCAGACGCCAG	0.647000														187			46		0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139938323	139938323	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139938323C>A	uc021yeh.1	-	12	1667	c.1308G>T	c.(1306-1308)aaG>aaT	p.K436N	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.K213N|APBB3_uc003lgc.1_Missense_Mutation_p.K213N|APBB3_uc003lgd.1_Missense_Mutation_p.K441N|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.K213N|APBB3_uc003lge.1_Missense_Mutation_p.K434N|APBB3_uc021yeg.1_Missense_Mutation_p.K443N|APBB3_uc003lgf.1_Non-coding_Transcript	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	436	PID 2.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTCCGCTTGAGCCGCA	0.662000														150			16		1.3612e-06	1.45125e-06	1	1	0
CFI	3426	broad.mit.edu	37	4	110662246	110662246	+	Missense_Mutation	SNP	C	T	T	rs121964918		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:110662246C>T	uc011cft.2	-	13	1787	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	CFI_uc003hzq.3_Missense_Mutation_p.D316N|CFI_uc003hzr.4_Missense_Mutation_p.D519N	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	519	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			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)		TTACAGGCATCGATGGAACCA	0.448000														244			52		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158399284	158399284	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158399284G>A	uc002tzk.4	-	5	1277	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V	ACVR1C_uc002tzl.4_Missense_Mutation_p.A265V|ACVR1C_uc010fof.3_Missense_Mutation_p.A188V|ACVR1C_uc010foe.3_Missense_Mutation_p.A295V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	345	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGCTTCACAGCCAACCCTAA	0.408000														147			39		0	0	1	0	0
SLC35E2B	728661	broad.mit.edu	37	1	1599856	1599856	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1599856A>G	uc001ahf.4	-	8	1811	c.890T>C	c.(889-891)gTg>gCg	p.V297A	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc009vkl.2_Silent_p.G214G|SLC35E2B_uc001ahe.4_Silent_p.G79G|SLC35E2B_uc001ahg.4_Missense_Mutation_p.V297A|SLC35E2B_uc001ahh.4_Missense_Mutation_p.V297A	NM_001110781	NP_001104251	P0CK96	S352B_HUMAN	Homo sapiens solute carrier family 35, member E2B (SLC35E2B), mRNA.	297						integral to membrane				kidney(1)|lung(1)	2						AAGCAGCAGCACCACGTCCTG	0.547000														100			7		0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	661780	661780	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:661780G>A	uc003gap.3	+	20	2541	c.2488G>A	c.(2488-2490)Gtg>Atg	p.V830M	PDE6B_uc003gao.4_Missense_Mutation_p.V830M|PDE6B_uc011buy.2_Missense_Mutation_p.V551M|PDE6B_uc011buz.2_Missense_Mutation_p.V262M	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	830					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGAGGAGAGGGTGGCAGCCAA	0.552000														211			32		0	0	1	0	0
PDIA3P	171423	broad.mit.edu	37	1	146649852	146649852	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:146649852G>A	uc001epg.1	+	0	423	c.160G>A	c.(160-162)Gcc>Acc	p.A54T						Homo sapiens protein disulfide isomerase family A, member 3 pseudogene (PDIA3P), non-coding RNA.																		CGAGTTCTTCGCCCCCTGGTG	0.572000														135			74		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054176	106054176	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106054176A>G	uc001yrt.3	-	2	392	c.361T>C	c.(361-363)Tcg>Ccg	p.S121P	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		CGGTGCAGCGACAGTCGGGGG	0.667000														42			16		0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47115672	47115672	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47115672C>T	uc002iom.3	+	5	878	c.544C>T	c.(544-546)Cct>Tct	p.P182S	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	182					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGGCTCACCTGTGGCAGC	0.652000														111			26		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134079098	134079098	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:134079098G>A	uc001qhd.1	-	5	1341	c.735C>T	c.(733-735)gtC>gtT	p.V245V	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	245					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ATGAAACAAAGACCTAGAAAA	0.358000														159			29		0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316752	30316752	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30316752C>T	uc009xle.2	-	2	2462	c.2325G>A	c.(2323-2325)ccG>ccA	p.P775P	KIAA1462_uc001iux.3_Silent_p.P775P|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.P637P	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	775										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CTTTTGGCGTCGGTGCCTGGT	0.637000														233			52		0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156130351	156130351	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156130351G>A	uc001fnl.3	+	7	864	c.685_splice	c.e7+1	p.H229_splice	SEMA4A_uc009wrq.3_Splice_Site_p.H229_splice|SEMA4A_uc001fnm.3_Splice_Site_p.H229_splice|SEMA4A_uc001fnn.3_Splice_Site_p.H97_splice|SEMA4A_uc001fno.3_Splice_Site_p.H229_splice	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	229	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TGGCTGCATCGTAAGGACCTG	0.537000														71			19		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28574117	28574117	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28574117A>G	uc003xgz.1	+	2	1134	c.541A>G	c.(541-543)Aac>Gac	p.N181D		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	181						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.N181_C182insHV(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCGGCTACACAACTGCTTTGA	0.597000														174			26		0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141041335	141041335	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:141041335C>T	uc003llm.3	-	20	3113	c.3035G>A	c.(3034-3036)cGc>cAc	p.R1012H	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R674H|ARAP3_uc003lln.3_Missense_Mutation_p.R843H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1012	Rho-GAP.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCTCCAGGCGCTGATTCTT	0.572000														241			56		0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431186	66431186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66431186G>A	uc003dmx.3	-	17	2884	c.2870C>T	c.(2869-2871)gCa>gTa	p.A957V	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Missense_Mutation_p.A577V|LRIG1_uc003dmw.3_Missense_Mutation_p.A623V|LRIG1_uc010hnz.3_Missense_Mutation_p.A673V|LRIG1_uc010hoa.3_Missense_Mutation_p.A934V	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	957			A -> T (in dbSNP:rs332373).			integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTTGGCTGTGCGCTGTCTCT	0.632000														215			10		0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975349	44975349	+	Missense_Mutation	SNP	G	A	A	rs139581441	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:44975349G>A	uc001wvn.3	-	0	1151	c.842C>T	c.(841-843)gCg>gTg	p.A281V		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	281						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TCTGGGCTCCGCTTTAGCAGT	0.483000														123			27		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67215738	67215738	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:67215738C>A	uc010dfa.1	-	6	1357	c.478G>T	c.(478-480)Gga>Tga	p.G160*	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G52*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	160					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTAAATTTTCCTCTTTCCCTT	0.318000														67			9		2.17888e-05	2.28139e-05	1	1	0
SLC25A11	8402	broad.mit.edu	37	17	4841116	4841116	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4841116G>A	uc002fzo.2	-	7	1122	c.865C>T	c.(865-867)Ctg>Ttg	p.L289L	SLC25A11_uc002fzp.2_Silent_p.L285L|SLC25A11_uc021tod.1_Silent_p.L278L|SLC25A11_uc021toe.1_Silent_p.L238L|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	289					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TGGGGGCCCAGGCGGGCATAG	0.607000														183			50		0	0	1	0	0
COMP	1311	broad.mit.edu	37	19	18901372	18901372	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18901372G>A	uc002nke.3	-	3	253	c.217_splice	c.e3+1	p.G73_splice	COMP_uc002nkd.3_Splice_Site_p.G40_splice|COMP_uc010xqj.2_Splice_Site_p.G73_splice	NM_000095	NP_000086	P49747	COMP_HUMAN	Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA.	73	COMP N-terminal.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CGCGCTCACCGCACGCGTCAC	0.612000														624			120		0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43708092	43708092	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43708092A>G	uc011aev.2	+	8	1174	c.1100A>G	c.(1099-1101)gAc>gGc	p.D367G	ABCG1_uc002zam.3_Missense_Mutation_p.D334G|ABCG1_uc002zan.3_Missense_Mutation_p.D358G|ABCG1_uc002zao.3_Missense_Mutation_p.D353G|ABCG1_uc002zap.3_Missense_Mutation_p.D356G|ABCG1_uc002zaq.3_Missense_Mutation_p.D356G|ABCG1_uc002zar.3_Missense_Mutation_p.D367G|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	356					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CACAAGAGAGACCTCGGGGGT	0.547000														367			45		0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30680146	30680146	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30680146G>A	uc002dzd.4	+	10	915	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	FBRS_uc002dzc.4_Missense_Mutation_p.A130T	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	218										ovary(1)	1			Colorectal(24;0.103)			ACCAGCCTTCGCCTCCCCACC	0.687000														43			6		0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122620057	122620057	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122620057C>A	uc001ubq.3	+	10	1984	c.1876C>A	c.(1876-1878)Cac>Aac	p.H626N	MLXIP_uc001ubt.3_Missense_Mutation_p.H233N	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CCCGGAGTTCCACAGCAGCAT	0.652000														40			6		4.096e-09	4.53438e-09	1	1	0
KRBA2	124751	broad.mit.edu	37	17	8272507	8272507	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8272507G>A	uc002glf.1	-	1	1430	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	KRBA2_uc002glg.1_Missense_Mutation_p.P392L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	475					DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAGCTTCAGGAGTGGGATC	0.522000														133			35		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228553839	228553839	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228553839C>T	uc009xez.1	+	82	19172	c.19128C>T	c.(19126-19128)ttC>ttT	p.F6376F	OBSCN_uc001hsr.1_Silent_p.F1005F	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6376	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCCAATTCGAGGCTATCA	0.632000														195			29		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8636839	8636839	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8636839G>A	uc003zkk.3	-	12	813	c.70C>T	c.(70-72)Cca>Tca	p.P24S	PTPRD_uc003zkp.3_Missense_Mutation_p.P24S|PTPRD_uc003zkq.3_Missense_Mutation_p.P24S|PTPRD_uc003zkr.3_Missense_Mutation_p.P24S|PTPRD_uc003zks.3_Missense_Mutation_p.P24S|PTPRD_uc022bdj.1_Missense_Mutation_p.P24S|PTPRD_uc003zkt.1_Missense_Mutation_p.P24S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	24	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTAAACCTTGGAGGTGCTGAA	0.458000										TSP Lung(15;0.13)				105			19		0	0	1	0	0
LIF	3976	broad.mit.edu	37	22	30640766	30640766	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30640766G>A	uc003agz.2	-	1	288	c.176C>T	c.(175-177)gCc>gTc	p.A59V	LIF_uc011aks.1_Intron|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	59					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			GAGGGCATTGGCACTGCCATT	0.532000														95			19		0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109695829	109695829	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:109695829G>T	uc004eor.2	+	2	2230	c.1984G>T	c.(1984-1986)Gcc>Tcc	p.A662S	RGAG1_uc011msr.1_Missense_Mutation_p.A662S	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	662										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACAGACACAGCCTCTGGAGG	0.512000														98			34		1.99505e-19	2.42313e-19	1	1	0
DNAH10	196385	broad.mit.edu	37	12	124303737	124303737	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124303737G>A	uc001uft.4	+	21	3611	c.3586G>A	c.(3586-3588)Gag>Aag	p.E1196K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1196	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGATAGAGGAGTTTGCAAA	0.393000														24			5		0	0	1	0	0
FAM124B	79843	broad.mit.edu	37	2	225266170	225266170	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:225266170G>T	uc002vnx.3	-	0	542	c.316C>A	c.(316-318)Ctg>Atg	p.L106M	FAM124B_uc002vnw.3_Missense_Mutation_p.L106M	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	106							protein binding	p.L106L(1)		endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TAGGGACACAGCCTTCCCCGA	0.597000														90			6		0.0215528	0.0217347	1	1	0
TTBK2	146057	broad.mit.edu	37	15	43045264	43045264	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:43045264C>A	uc001zqo.2	-	13	2619	c.2180G>T	c.(2179-2181)aGa>aTa	p.R727I	TTBK2_uc010bcy.2_Missense_Mutation_p.R658I	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	727					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CAAATCTGTTCTGCTTCCTCC	0.463000														217			21		3.73194e-20	4.55228e-20	1	1	0
HMHA1	23526	broad.mit.edu	37	19	1080691	1080691	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1080691G>A	uc002lqz.1	+	15	2154	c.1923G>A	c.(1921-1923)aaG>aaA	p.K641K	HMHA1_uc010xgd.1_Silent_p.K657K|HMHA1_uc010xge.1_Silent_p.K509K|HMHA1_uc002lra.1_Silent_p.K481K|HMHA1_uc002lrb.1_Silent_p.K524K|HMHA1_uc002lrc.1_Silent_p.K276K	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	641					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGACTTTAAGAAGTTCGAGC	0.637000														108			10		0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102514985	102514985	+	Silent	SNP	C	T	T	rs1127284		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102514985C>T	uc001yks.2	+	73	13515	c.13351C>T	c.(13351-13353)Ctg>Ttg	p.L4451L		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4451					G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTTGCGCACGCTGATCAACGA	0.602000														81			9		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159178308	159178308	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159178308G>A	uc003qrp.3	+	14	1602	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	SYTL3_uc003qrr.3_Silent_p.T401T|SYTL3_uc003qro.3_Silent_p.T333T|SYTL3_uc003qrs.3_Silent_p.T333T|SYTL3_uc011efq.2_Silent_p.T127T	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	401	C2 1.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		ATCTGGGCACGCTGGCCCGGA	0.617000														66			12		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115421772	115421772	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115421772C>T	uc011lwx.1	+	4	1833	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	KIAA1958_uc004bgf.1_Missense_Mutation_p.A525V	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	525										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						ATGTCGGGCGCGCGTTCTCGC	0.577000														41			8		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43529485	43529485	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43529485C>T	uc002lbm.3	-	4	1562	c.1462G>A	c.(1462-1464)Gct>Act	p.A488T	EPG5_uc002lbo.1_Missense_Mutation_p.A488T	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	488					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CTAACACCAGCGGGGCATCGA	0.433000														44			12		0	0	1	0	0
ZBTB1	22890	broad.mit.edu	37	14	64988779	64988779	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64988779C>T	uc021rul.1	+	0	557	c.557C>T	c.(556-558)cCt>cTt	p.P186L	ZBTB1_uc001xhh.4_Missense_Mutation_p.P186L|ZBTB1_uc010aqg.3_Missense_Mutation_p.P186L|ZBTB1_uc001xhi.2_Missense_Mutation_p.P186L|ZBTB1_uc021rum.1_5'Flank	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN	Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		GGTAATTTTCCTGAGCCACTA	0.413000														111			33		0	0	1	0	0
HIST1H3J	8356	broad.mit.edu	37	6	27858533	27858533	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858533C>T	uc003nka.3	-	0	38	c.38G>A	c.(37-39)gGc>gAc	p.G13D	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	13					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.G13C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						TGCCTTGCCGCCGGTAGACTT	0.597000														162			20		0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	95011277	95011277	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95011277C>T	uc003klj.1	-	2	373	c.217G>A	c.(217-219)Gca>Aca	p.A73T	SPATA9_uc010jbh.1_Non-coding_Transcript|SPATA9_uc003klh.1_Non-coding_Transcript|SPATA9_uc003kli.1_Intron	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN	Homo sapiens spermatogenesis associated 9 (SPATA9), mRNA.	73					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R72L(1)		large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		ATTAATGTTGCTCGATTAATC	0.403000														106			17		0	0	1	0	0
PPARGC1B	133522	broad.mit.edu	37	5	149216334	149216334	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:149216334G>A	uc003lrc.3	+	7	2407	c.2316G>A	c.(2314-2316)gaG>gaA	p.E772E	PPARGC1B_uc003lrb.2_Silent_p.E772E|PPARGC1B_uc003lrd.3_Silent_p.E733E|PPARGC1B_uc021yfr.1_Silent_p.E708E|PPARGC1B_uc003lre.1_Silent_p.E751E|PPARGC1B_uc003lrf.3_Silent_p.E751E	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	772	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|RNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGCTGCTGGAGACCGCCCTGG	0.602000														301			56		0	0	1	0	0
SLC45A3	85414	broad.mit.edu	37	1	205628723	205628723	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:205628723C>T	uc001hda.1	-	4	1640	c.1301G>A	c.(1300-1302)gGc>gAc	p.G434D	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	434					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGGCTTAGGGCCTGGCAGGAA	0.622000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		86			18		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6700658	6700658	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6700658C>T	uc001qpo.3	-	21	3478	c.3314G>A	c.(3313-3315)cGg>cAg	p.R1105Q	CHD4_uc001qpn.3_Missense_Mutation_p.R1098Q|CHD4_uc001qpp.3_Missense_Mutation_p.R1102Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1105	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGCCTCTTGCCGCATGTTCCC	0.433000														115			26		0	0	1	0	0
KIAA1467	57613	broad.mit.edu	37	12	13208820	13208820	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:13208820A>G	uc001rbi.3	+	1	396	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	125						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TGCTTTCCTGATCCCCTGTCC	0.577000														113			30		0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35466170	35466170	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35466170C>T	uc003okv.4	-	14	1575	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	TEAD3_uc003oku.4_5'Flank|TEAD3_uc010jvx.3_5'Flank|TULP1_uc003okw.4_Silent_p.P468P	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	521					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCGCACAGCGGGTACCGGT	0.687000														72			17		0	0	1	0	0
CALHM2	51063	broad.mit.edu	37	10	105206962	105206962	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:105206962C>T	uc001kxa.3	-	3	1530	c.919G>A	c.(919-921)Gca>Aca	p.A307T	CALHM2_uc001kxc.3_3'UTR|CALHM2_uc001kxb.3_Missense_Mutation_p.A307T	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	307						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCGTTGCCTGCCAGACCCTGG	0.617000														135			40		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73990976	73990976	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73990976C>T	uc003hgp.3	-	16	3405	c.3288G>A	c.(3286-3288)gaG>gaA	p.E1096E	ANKRD17_uc003hgo.3_Silent_p.E983E|ANKRD17_uc003hgq.3_Silent_p.E845E|ANKRD17_uc003hgr.3_Silent_p.E1095E|ANKRD17_uc011cbd.1_Silent_p.E661E	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1096					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTACCAGTTCCTCGTGGCCAC	0.388000														170			38		0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412726	50412726	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:50412726G>T	uc002prb.3	-	1	583	c.339C>A	c.(337-339)ggC>ggA	p.G113G	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.G113G|NUP62_uc002pqy.3_Silent_p.G113G|NUP62_uc002pra.3_Silent_p.G113G|NUP62_uc002pqz.3_Silent_p.G113G|NUP62_uc002prc.3_Silent_p.G113G|NUP62_uc021uya.1_Silent_p.G113G	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	113	15 X 9 AA approximate repeats.|Thr-rich.				carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.G113C(1)|p.G113R(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CCAGCCCAAAGCCGCTGGGGT	0.592000														215			38		4.11147e-13	4.78056e-13	1	1	0
APLP2	334	broad.mit.edu	37	11	129993589	129993589	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129993589C>T	uc010sby.2	+	6	1162	c.1005C>T	c.(1003-1005)tgC>tgT	p.C335C	APLP2_uc001qfp.3_Silent_p.C335C|APLP2_uc001qfq.3_Intron|APLP2_uc010sbz.2_Intron|APLP2_uc001qfr.3_Intron|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Silent_p.C345C|APLP2_uc001qfv.3_Intron	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	335	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGGGAAAGTGCGTGCGCTTTA	0.547000														273			14		0	0	1	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744473	31744473	+	Missense_Mutation	SNP	C	T	T	rs146985381	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31744473C>T	uc002ynz.4	-	0	85	c.59G>A	c.(58-60)cGc>cAc	p.R20H		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	20						intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TGCTGGGTAGCGCAGGTAGTC	0.542000														244			29		0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	587346	587346	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:587346C>A	uc001lqe.3	+	3	433	c.302C>A	c.(301-303)tCt>tAt	p.S101Y	PHRF1_uc010qwc.2_Missense_Mutation_p.S101Y|PHRF1_uc010qwd.2_Missense_Mutation_p.S100Y|PHRF1_uc010qwe.2_Missense_Mutation_p.S97Y	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	101							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCTTTCAATTCTGATGATGAT	0.562000														132			38		6.05902e-23	7.48453e-23	1	1	0
MYLK2	85366	broad.mit.edu	37	20	30419645	30419645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30419645G>A	uc002wwq.2	+	10	1666	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	MYLK2_uc002wws.2_Missense_Mutation_p.V139I|MYLK2_uc010gdw.1_Non-coding_Transcript	NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	522	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAACCTCATCGTCAAGGACCA	0.527000														134			34		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	T	T	rs72646808	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179472319C>T	uc021vsy.1	-	225	45617	c.45392G>A	c.(45391-45393)cGc>cAc	p.R15131H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R8826H|TTN_uc021vta.1_Missense_Mutation_p.R8759H|TTN_uc021vtb.1_Missense_Mutation_p.R8634H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16058	Fibronectin type-III 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTACAGGGCGACCAGTCAC	0.448000														349			96		0	0	1	0	0
PPEF1	5475	broad.mit.edu	37	X	18843868	18843868	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18843868G>A	uc004cyq.3	+	18	2147	c.1666_splice	c.e18-1	p.A556_splice	PPEF1_uc004cyp.3_Splice_Site_p.A528_splice|PPEF1_uc004cyr.3_Splice_Site_p.A494_splice|PPEF1_uc004cys.3_Splice_Site_p.A556_splice|PPEF1_uc011mja.2_Splice_Site_p.A491_splice|PPEF1_uc011mjb.2_Splice_Site_p.A500_splice	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	556					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CTTTATTTTAGGCTCATTCTA	0.318000														64			16		0	0	1	0	0
EED	8726	broad.mit.edu	37	11	85988142	85988142	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:85988142A>G	uc001pbp.3	+	9	1553	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	EED_uc010rtm.2_Missense_Mutation_p.I363V|EED_uc001pbq.3_Missense_Mutation_p.I363V|EED_uc001pbr.3_Missense_Mutation_p.I388V|EED_uc010rtn.1_Non-coding_Transcript	NM_003797	NP_003788	O75530	EED_HUMAN	Homo sapiens embryonic ectoderm development (EED), transcript variant 1, mRNA.	363	Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				CCAGTGTGACATTTGGTACAT	0.358000														99			19		0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53067324	53067324	+	RNA	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53067324T>G	uc002pzq.2	+	3		c.3836T>G						Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACTCCACTTCTTGTCATGTCT	0.453000														36			11		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36900795	36900795	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36900795A>G	uc001uvn.3	-	5	1475	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T	SPG20_uc010ten.2_Missense_Mutation_p.I392T|SPG20_uc001uvm.3_Missense_Mutation_p.I402T|SPG20_uc001uvo.3_Missense_Mutation_p.I402T|SPG20_uc001uvq.3_Missense_Mutation_p.I402T|SPG20_uc001uvp.2_Missense_Mutation_p.I402T	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	402					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		ACATGGTACAATGTGACTCAG	0.358000														45			8		0	0	1	0	0
C17orf102	400591	broad.mit.edu	37	17	32906007	32906007	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:32906007C>T	uc002hie.1	-	0	382	c.293G>A	c.(292-294)gGg>gAg	p.G98E	TMEM132E_uc002hif.3_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	98			G -> R (in dbSNP:rs58529418).							central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGAGCCCCCGCGGCCCGA	0.672000														276			60		0	0	1	0	0
WNT6	7475	broad.mit.edu	37	2	219738522	219738522	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219738522G>A	uc002vjc.1	+	3	1268	c.1053G>A	c.(1051-1053)caG>caA	p.Q351Q		NM_006522	NP_006513	Q9Y6F9	WNT6_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 6 (WNT6), mRNA.	351					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGTACAGTGCCACCGCT	0.697000														38			8		0	0	1	0	0
ST8SIA5	29906	broad.mit.edu	37	18	44260357	44260357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44260357C>T	uc010xcy.1	-	7	1455	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ST8SIA5_uc002lci.1_Missense_Mutation_p.R107H|ST8SIA5_uc002lcj.1_Missense_Mutation_p.R260H|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R229H	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	260					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GTACTTGACGCGGATGGACAC	0.612000														83			14		0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51072569	51072569	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51072569G>A	uc001rwv.3	+	7	1180	c.1024G>A	c.(1024-1026)Gcc>Acc	p.A342T	DIP2B_uc001rwu.3_Missense_Mutation_p.A342T|DIP2B_uc009zls.2_Missense_Mutation_p.A224T	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	342						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTTGAATCTGCCCTGCAGCG	0.552000														89			19		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47727313	47727313	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:47727313C>T	uc002eev.4	+	27	2842	c.2790C>T	c.(2788-2790)atC>atT	p.I930I	PHKB_uc002eeu.4_Silent_p.I923I|PHKB_uc002eew.4_Silent_p.I171I	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	930	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGCGTCAGATCGATGGGTCTT	0.483000														73			16		0	0	1	0	0
POLL	27343	broad.mit.edu	37	10	103342623	103342623	+	Missense_Mutation	SNP	C	T	T	rs146112511		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103342623C>T	uc001ktg.1	-	5	1857	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552000								DNA polymerases (catalytic subunits)						144			38		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17010326	17010326	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17010326T>C	uc002nfb.3	-	36	4981	c.4949A>G	c.(4948-4950)tAt>tGt	p.Y1650C	CPAMD8_uc010xpj.1_5'Flank|CPAMD8_uc002nfd.1_Missense_Mutation_p.Y115C	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1603						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGCCACTTCATACCTCTTCAT	0.577000														90			16		0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237057675	237057675	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237057675A>G	uc001hyi.4	+	29	3646	c.3223A>G	c.(3223-3225)Agc>Ggc	p.S1075G	MTR_uc010pxw.2_Missense_Mutation_p.S668G|MTR_uc010pxx.2_Missense_Mutation_p.S1024G|MTR_uc010pxy.2_Missense_Mutation_p.S929G	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1075	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GGACTCTGCCAGCACGGAGCC	0.572000														112			27		0	0	1	0	0
HTR3B	9177	broad.mit.edu	37	11	113815474	113815474	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113815474A>C	uc001pok.3	+	7	1225	c.1087A>C	c.(1087-1089)Aca>Cca	p.T363P	HTR3B_uc001pol.3_Missense_Mutation_p.T352P	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	363					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TGCTGTGGTAACAGGTGTGTG	0.537000														141			17		0	0	1	0	0
FOXF1	2294	broad.mit.edu	37	16	86545078	86545078	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:86545078C>T	uc002fjl.3	+	0	946	c.903C>T	c.(901-903)tcC>tcT	p.S301S	FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank	NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	301					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel 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 factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						ACCCCCTGTCCGGCAGCCTCT	0.706000														28			9		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129100202	129100202	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129100202C>T	uc011koy.2	+	12	1505	c.1465C>T	c.(1465-1467)Cct>Tct	p.P489S	FAM40B_uc003vow.3_Missense_Mutation_p.P489S|FAM40B_uc011koz.2_5'UTR	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	489										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGAGAAGTGCCCTATGTCTTT	0.473000														36			11		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15295262	15295262	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15295262C>A	uc002nan.3	-	16	2487	c.2411_splice	c.e16-1	p.G804_splice	NOTCH3_uc002nao.1_Intron	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	804	EGF-like 20.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CATCGTGGGCCTGGGGGTAGG	0.622000														100			15		2.31682e-05	2.42268e-05	1	1	0
PTPN23	25930	broad.mit.edu	37	3	47451949	47451949	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47451949C>A	uc003crf.1	+	19	2757	c.2661C>A	c.(2659-2661)atC>atA	p.I887I	PTPN23_uc011baw.1_Silent_p.I852I|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Silent_p.I757I	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	887	His.|Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAGATAGCATCCAGGCGCCCA	0.697000														59			13		0.00010058	0.000104357	1	1	0
STAM	8027	broad.mit.edu	37	10	17750861	17750861	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17750861G>A	uc001ipj.2	+	12	1511	c.1296G>A	c.(1294-1296)ccG>ccA	p.P432P	STAM_uc010qcf.2_Silent_p.P321P|STAM_uc009xjw.2_Silent_p.P90P	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	432					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.P432Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTCTTCCCCCGGAGCAGCTGT	0.572000														185			33		0	0	1	0	0
PARS2	25973	broad.mit.edu	37	1	55224511	55224511	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55224511C>A	uc021ont.1	-	0	324	c.324G>T	c.(322-324)gaG>gaT	p.E108D	PARS2_uc001cxy.3_Missense_Mutation_p.E108D	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	108					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TGGCCTGCATCTCCTGGTCTA	0.617000														158			55		1.72184e-34	2.17817e-34	1	1	0
C9orf64	84267	broad.mit.edu	37	9	86559841	86559841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86559841C>T	uc004anb.3	-	2	909	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	C9orf64_uc004anc.3_Missense_Mutation_p.E80K	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	221										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CCTTTTCCTTCCAATACACTC	0.398000														69			15		0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94522198	94522198	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94522198C>T	uc001dqh.3	-	14	2445	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	ABCA4_uc010otn.1_Intron	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	781					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A781D(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTGCCAGGCGAAGCACAGG	0.582000														54			10		0	0	1	0	0
CCDC101	112869	broad.mit.edu	37	16	28596992	28596992	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28596992C>T	uc002dqf.3	+	3	360	c.175C>T	c.(175-177)Ctg>Ttg	p.L59L	NPIPL1_uc010vct.2_Intron	NM_138414	NP_612423	Q96ES7	SGF29_HUMAN	Homo sapiens coiled-coil domain containing 101 (CCDC101), mRNA.	59					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						CCGGACAAAGCTGCGTGGCCT	0.597000														127			36		0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119338092	119338092	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:119338092C>A	uc003pyj.3	-	4	1698	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N	FAM184A_uc003pyk.4_Missense_Mutation_p.K330N|FAM184A_uc003pyl.4_Missense_Mutation_p.K330N	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	450										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCTGAGTTCTCTTTGCTTCAT	0.333000														49			9		0.000274275	0.000282808	1	1	0
ABCA8	10351	broad.mit.edu	37	17	66925263	66925263	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66925263C>A	uc002jhq.3	-	8	1392	c.1052G>T	c.(1051-1053)aGa>aTa	p.R351I	ABCA8_uc002jhp.3_Missense_Mutation_p.R351I|ABCA8_uc010wqq.2_Missense_Mutation_p.R351I|ABCA8_uc010wqr.2_Missense_Mutation_p.R290I|ABCA8_uc002jhr.3_Missense_Mutation_p.R351I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	351						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGAAGGTGTCTGTACAGTGA	0.473000														80			10		2.17888e-05	2.28139e-05	1	1	0
DAO	1610	broad.mit.edu	37	12	109278930	109278930	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109278930G>A	uc001tnr.4	+	1	819	c.148G>A	c.(148-150)Ggc>Agc	p.G50S	DAO_uc001tnq.4_Missense_Mutation_p.G50S|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	50					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CGTGGCTGCCGGCCTCTGGCA	0.617000														253			37		0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11067953	11067953	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:11067953G>A	uc010hdq.3	+	9	1397	c.986G>A	c.(985-987)tGc>tAc	p.C329Y		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	329					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ATCAATTCGTGCACCAGCATG	0.577000														255			59		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107416898	107416898	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:107416898G>T	uc003ver.2	-	15	1888	c.1677_splice	c.e15+1	p.A559_splice	SLC26A3_uc003ves.2_Splice_Site_p.A524_splice	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	559	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.A559V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AAACCTTACAGCATCGATAAG	0.383000														83			11		9.70103e-10	1.08264e-09	1	1	0
MAK16	84549	broad.mit.edu	37	8	33356000	33356000	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:33356000C>T	uc003xjj.3	+	9	796	c.756C>T	c.(754-756)tcC>tcT	p.S252S	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	252						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						ATGGTAAATCCTCCAGTGAGG	0.448000														88			13		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96163682	96163682	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:96163682G>A	uc003hto.3	-	6	1359	c.1006C>T	c.(1006-1008)Cgc>Tgc	p.R336C	UNC5C_uc010ilc.2_Missense_Mutation_p.R336C|UNC5C_uc003htq.3_Missense_Mutation_p.R336C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	336	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCCCTCCTGCGCCAGTGGGTG	0.587000														42			8		0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872830	39872830	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:39872830C>T	uc010lwy.1	+	10	1214	c.972C>T	c.(970-972)atC>atT	p.I324I	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_Silent_p.I65I|IDO2_uc003xnp.1_Silent_p.I65I	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	311					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TAGAAGACATCCACTCAGCAC	0.498000														81			16		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117746757	117746757	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117746757C>T	uc003pxp.1	-	0	262	c.63G>A	c.(61-63)tgG>tgA	p.W21*	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	21					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCACAGAAATCCATAGGCAGC	0.393000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									127			22		0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128691392	128691392	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:128691392C>T	uc004euq.3	+	4	494	c.329C>T	c.(328-330)gCt>gTt	p.A110V	OCRL_uc004eur.3_Missense_Mutation_p.A110V	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	110					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCCTCTCAGCTGTCCTTGCT	0.463000														41			14		0	0	1	0	0
LOC283922	283922	broad.mit.edu	37	16	74371514	74371514	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:74371514C>T	uc002fcr.2	-	10	1810	c.464G>A	c.(463-465)gGg>gAg	p.G155E	LOC283922_uc010vms.1_Non-coding_Transcript					Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit pseudogene (LOC283922), non-coding RNA.																		TGCCTGATCCCCAGTGGTCTG	0.532000														50			8		0	0	1	0	0
TXNDC17	84817	broad.mit.edu	37	17	6544417	6544417	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6544417G>T	uc002gdf.4	+	0	196	c.15G>T	c.(13-15)gaG>gaT	p.E5D	KIAA0753_uc002gde.4_5'Flank|KIAA0753_uc010vte.2_5'Flank	NM_032731	NP_116120	Q9BRA2	TXD17_HUMAN	Homo sapiens thioredoxin domain containing 17 (TXNDC17), mRNA.	5					tumor necrosis factor-mediated signaling pathway	cytosol	electron carrier activity|peroxidase activity|protein binding|protein-disulfide reductase activity			endometrium(1)|kidney(1)|ovary(1)	3						CCCGCTATGAGGAGGTGAGCG	0.652000														70			15		7.93312e-07	8.47869e-07	1	1	0
FNDC3A	22862	broad.mit.edu	37	13	49772216	49772216	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49772216C>T	uc001vcm.3	+	21	2894	c.2589C>T	c.(2587-2589)agC>agT	p.S863S	FNDC3A_uc001vcn.3_Silent_p.S863S|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcq.3_Silent_p.S807S	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	863	Fibronectin type-III 7.					Golgi membrane|integral to membrane		p.I862I(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGAAATAAGCGATGATGAGA	0.468000														135			22		0	0	1	0	0
PSMD12	5718	broad.mit.edu	37	17	65337095	65337095	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65337095A>G	uc002jfy.3	-	10	1321	c.1235T>C	c.(1234-1236)aTt>aCt	p.I412T	PSMD12_uc002jga.3_Missense_Mutation_p.I392T|PSMD12_uc002jfz.3_Missense_Mutation_p.I353T	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	412	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAAGTTGATAATTCCTGCTAA	0.368000														70			18		0	0	1	0	0
NSFL1C	55968	broad.mit.edu	37	20	1433256	1433256	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:1433256G>A	uc002wfc.3	-	6	1535	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	NSFL1C_uc021vzq.1_Missense_Mutation_p.R109W|NSFL1C_uc002wfe.3_Missense_Mutation_p.R192W	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	223	SEP.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTAGCCTCCGAAGCTCTGCT	0.537000														256			33		0	0	1	0	0
CBX1	10951	broad.mit.edu	37	17	46154252	46154252	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:46154252G>A	uc002ind.4	-	1	596	c.115C>T	c.(115-117)Ctc>Ttc	p.L39F	CBX1_uc002ine.4_Missense_Mutation_p.L39F	NM_006807	NP_006798	P83916	CBX1_HUMAN	Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.	39	Chromo 1.					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						CACTTTAGGAGGTACTCCACT	0.458000														159			31		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29976198	29976198	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29976198T>C	uc003rtl.4	+	1	463	c.101T>C	c.(100-102)gTg>gCg	p.V34A	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|ZNRD1-AS1_uc011dme.2_Intron|HLA-J_uc003nou.4_Non-coding_Transcript|HLA-J_uc003nov.4_Non-coding_Transcript					Homo sapiens major histocompatibility complex, class I, J (pseudogene) (HLA-J), non-coding RNA.																		ACATGCCATGTGCAGCACAAG	0.592000														67			21		0	0	1	0	0
SLC35E1	79939	broad.mit.edu	37	19	16677435	16677435	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:16677435G>A	uc010xph.2	-	3	682	c.664C>T	c.(664-666)Ctg>Ttg	p.L222L	MED26_uc002nee.2_Non-coding_Transcript|SLC35E1_uc002nem.1_Silent_p.L222L	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	222					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATGTTGAGCAGCCGGAGATGG	0.537000														136			32		0	0	1	0	0
C16orf62	57020	broad.mit.edu	37	16	19710833	19710833	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:19710833C>T	uc002dgn.2	+	29	2971	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	C16orf62_uc002dgo.2_Missense_Mutation_p.R882C|C16orf62_uc002dgp.2_Missense_Mutation_p.R635C	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	886						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						GGCCCTGAAGCGCCAGAGCTC	0.582000														86			16		0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	64038261	64038261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:64038261G>A	uc001srp.1	-	5	906	c.725C>T	c.(724-726)gCt>gTt	p.A242V	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	242					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAAGCAAGCAGGATCTCC	0.343000														45			11		0	0	1	0	0
KRTAP10-3	386682	broad.mit.edu	37	21	45977936	45977936	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45977936G>T	uc002zfj.1	-	0	708	c.663C>A	c.(661-663)tgC>tgA	p.C221*	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	221						keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CTGCCCGTCAGCAGCTGGACT	0.652000														101			17		9.16793e-09	1.00855e-08	1	1	0
GRIP2	80852	broad.mit.edu	37	3	14566999	14566999	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14566999C>T	uc021wtn.1	-	3	493	c.493G>A	c.(493-495)Gac>Aac	p.D165N	GRIP2_uc003byu.1_Missense_Mutation_p.R70Q|GRIP2_uc003byv.1_Missense_Mutation_p.D68N	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	68	PDZ 2.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCATCCTTGTCGGTGCCACCT	0.617000														139			17		0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115088668	115088668	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:115088668G>A	uc001ppi.4	-	5	894	c.765C>T	c.(763-765)ggC>ggT	p.G255G	CADM1_uc001ppf.4_Silent_p.G255G|CADM1_uc001ppk.4_Silent_p.G255G|CADM1_uc001ppj.4_Silent_p.G255G|CADM1_uc001ppl.3_Silent_p.G255G|CADM1_uc001pph.4_Silent_p.G7G	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	255	Ig-like C2-type 2.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CCCGGGTTAAGCCTTGTAGAG	0.453000														76			23		0	0	1	0	0
CPXCR1	53336	broad.mit.edu	37	X	88008738	88008738	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:88008738A>C	uc022bzq.1	+	0	323	c.323A>C	c.(322-324)gAt>gCt	p.D108A	CPXCR1_uc004efd.4_Missense_Mutation_p.D108A|CPXCR1_uc004efc.4_Missense_Mutation_p.D108A	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	108						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCCTTAAATGATAGATCAAGA	0.403000														44			11		0	0	1	0	0
BCL6B	255877	broad.mit.edu	37	17	6927518	6927518	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6927518C>T	uc010clt.1	+	2	358	c.296C>T	c.(295-297)tCg>tTg	p.S99L	BCL6B_uc002geg.2_Missense_Mutation_p.S99L	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	99	BTB.					nucleus	zinc ion binding			skin(1)	1						ATGTACACTTCGCGCCTGCGC	0.642000														360			36		0	0	1	0	0
SWAP70	23075	broad.mit.edu	37	11	9746232	9746232	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:9746232G>A	uc001mhw.3	+	3	541	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SWAP70_uc001mhv.3_Missense_Mutation_p.E148K|SWAP70_uc001mhx.3_Missense_Mutation_p.E90K	NM_015055	NP_055870	Q9UH65	SWP70_HUMAN	Homo sapiens SWAP switching B-cell complex 70kDa subunit (SWAP70), mRNA.	148						cytoplasm|lamellipodium|nucleus|plasma membrane	DNA binding|calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		GAAGCTTACAGAAGCTATGGG	0.303000														54			17		0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53304313	53304313	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53304313C>T	uc002qad.3	-	3	942	c.785G>A	c.(784-786)cGt>cAt	p.R262H	ZNF28_uc002qac.3_Missense_Mutation_p.R208H|ZNF28_uc010eqe.3_Missense_Mutation_p.R208H|ZNF28_uc021uza.1_Missense_Mutation_p.R209H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGAGATCTACGATGGCATGC	0.383000														109			33		0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48717248	48717248	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48717248C>T	uc003cun.3	-	6	1430	c.1336G>A	c.(1336-1338)Gcc>Acc	p.A446T	NCKIPSD_uc003cum.3_Missense_Mutation_p.A439T	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	446	Leu-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGTAATAGGCCACCAAGGCC	0.517000														110			31		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6598925	6598925	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:6598925C>T	uc003gjf.1	+	7	1179	c.1143C>T	c.(1141-1143)gcC>gcT	p.A381A	MAN2B2_uc003gje.1_Silent_p.A381A|MAN2B2_uc011bwf.1_Silent_p.A330A	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	381					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTTGTATGCCGGGGAGTCCA	0.672000														373			70		0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16216893	16216893	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16216893C>T	uc002gpv.3	+	3	491	c.459C>T	c.(457-459)ggC>ggT	p.G153G	PIGL_uc010vwd.2_Silent_p.G153G	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	153					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GAGTAAGTGGCCACAGCAATC	0.488000														155			31		0	0	1	0	0
REM2	161253	broad.mit.edu	37	14	23354091	23354091	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23354091G>T	uc001whf.1	+	1	377	c.312G>T	c.(310-312)ggG>ggT	p.G104G	REM2_uc010tnd.1_Silent_p.G96G	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	104					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TGGGCTCAGGGGAGGCAGCCC	0.617000														140			26		3.28513e-13	3.82035e-13	1	1	0
PPP1R21	129285	broad.mit.edu	37	2	48725768	48725768	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48725768C>T	uc002rwm.3	+	16	2014	c.1829C>T	c.(1828-1830)gCc>gTc	p.A610V	PPP1R21_uc002rwl.3_Missense_Mutation_p.A564V|PPP1R21_uc002rwk.3_Missense_Mutation_p.A610V|PPP1R21_uc010yok.2_Missense_Mutation_p.A579V	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 21 (PPP1R21), transcript variant 1, mRNA.	610										endometrium(2)|kidney(4)|lung(9)	15						ACAGGTAGTGCCCAGCTGGTT	0.483000														90			16		0	0	1	0	0
UBR3	130507	broad.mit.edu	37	2	170917646	170917646	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170917646C>T	uc010zdi.2	+	33	4843	c.4843C>T	c.(4843-4845)Cta>Tta	p.L1615L	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.L436L|UBR3_uc002uft.4_Silent_p.L472L|UBR3_uc010zdj.2_Silent_p.L306L|UBR3_uc002ufu.4_Silent_p.L121L	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1615					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GATAAGTGAACTATTTAAAGG	0.313000														87			10		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72208782	72208782	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:72208782C>T	uc002atl.4	-	18	3087	c.2614G>A	c.(2614-2616)Gat>Aat	p.D872N	MYO9A_uc010biq.3_Missense_Mutation_p.D492N|MYO9A_uc002atn.1_Missense_Mutation_p.D853N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTAATGCGATCTTGTAGTGTC	0.338000														72			24		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94155086	94155086	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94155086A>G	uc001ybv.1	+	42	6720	c.6637A>G	c.(6637-6639)Att>Gtt	p.I2213V	UNC79_uc001ybs.1_Missense_Mutation_p.I2191V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2368						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GCTGGCCCAGATTGCAGCCAT	0.507000														134			7		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20089942	20089942	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20089942A>C	uc010rdm.2	+	23	5510	c.5149A>C	c.(5149-5151)Aat>Cat	p.N1717H	NAV2_uc001mpp.3_Missense_Mutation_p.N1597H|NAV2_uc001mpr.4_Missense_Mutation_p.N1661H|NAV2_uc021qew.1_Missense_Mutation_p.N1661H|NAV2_uc001mpt.2_Missense_Mutation_p.N710H|NAV2_uc009yhx.3_Missense_Mutation_p.N725H|NAV2_uc009yhy.1_Missense_Mutation_p.N623H|NAV2_uc009yhz.3_Missense_Mutation_p.N306H|NAV2_uc001mpu.3_Missense_Mutation_p.N99H	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1717						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCTGACAGCAAATGTAAGTAC	0.507000														141			21		0	0	1	0	0
OLIG3	167826	broad.mit.edu	37	6	137815239	137815239	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:137815239C>A	uc003qhp.1	-	0	293	c.69G>T	c.(67-69)agG>agT	p.R23S		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ggtggtggtCCCTCAGGTACA	0.577000														172			51		7.77092e-38	9.86658e-38	1	1	0
OR14J1	442191	broad.mit.edu	37	6	29275057	29275057	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:29275057G>A	uc011dln.2	+	0	591	c.591G>A	c.(589-591)ctG>ctA	p.L197L		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						AGATTGCACTGGCTGCATTCA	0.438000														203			38		0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	62941521	62941521	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62941521G>A	uc001daq.3	-	44	5819	c.5785C>T	c.(5785-5787)Cga>Tga	p.R1929*	DOCK7_uc001dan.3_Nonsense_Mutation_p.R1792*|DOCK7_uc001dao.3_Nonsense_Mutation_p.R1790*|DOCK7_uc001dap.3_Nonsense_Mutation_p.R1909*|DOCK7_uc001dam.3_Nonsense_Mutation_p.R1111*|DOCK7_uc010oov.1_Nonsense_Mutation_p.R670*|DOCK7_uc001dar.1_Nonsense_Mutation_p.R103*	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1940	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TACATGAATCGACGAAGATTG	0.403000														127			13		0	0	1	0	0
FOXD4	2298	broad.mit.edu	37	9	118009	118009	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:118009G>A	uc003zfz.3	-	0	409	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	37					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	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)		CCTCCTCCTCGTCTTCATCTT	0.662000														238			47		0	0	1	0	0
TMCO2	127391	broad.mit.edu	37	1	40716992	40716992	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40716992A>G	uc001cfe.2	+	1	368	c.275A>G	c.(274-276)tAc>tGc	p.Y92C		NM_001008740	NP_001008740	Q7Z6W1	TMCO2_HUMAN	Homo sapiens transmembrane and coiled-coil domains 2 (TMCO2), mRNA.	92						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TACAAACTTTACAAGAAGGGC	0.368000														78			29		0	0	1	0	0
DMTF1	9988	broad.mit.edu	37	7	86823161	86823161	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86823161G>A	uc003uih.3	+	15	2097	c.1771G>A	c.(1771-1773)Gtc>Atc	p.V591I	DMTF1_uc003uii.3_Missense_Mutation_p.V325I|DMTF1_uc003uij.3_Missense_Mutation_p.V325I|DMTF1_uc011khb.2_Missense_Mutation_p.V503I|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.V591I|DMTF1_uc003uin.3_Missense_Mutation_p.V325I	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	591	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AGAACTGACAGTCGATAGTGA	0.448000														148			30		0	0	1	0	0
C11orf58	10944	broad.mit.edu	37	11	16766172	16766172	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:16766172G>A	uc001mmk.2	+	1	266	c.88G>A	c.(88-90)Gca>Aca	p.A30T		NM_014267	NP_055082	O00193	SMAP_HUMAN	Homo sapiens chromosome 11 open reading frame 58 (C11orf58), mRNA.	30										NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TTGGGAGGCAGCAGACTTGGG	0.348000														58			14		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19129997	19129997	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19129997C>T	uc002nkz.1	-	3	1833	c.1813G>A	c.(1813-1815)Gac>Aac	p.D605N	SUGP2_uc002nkx.2_Missense_Mutation_p.D591N|SUGP2_uc002nla.1_Missense_Mutation_p.D591N|SUGP2_uc002nlb.2_Missense_Mutation_p.D591N|SUGP2_uc010xqk.1_Missense_Mutation_p.D360N	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	591					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACAAGCTGGTCGATGGTGCCC	0.517000														73			12		0	0	1	0	0
DST	667	broad.mit.edu	37	6	56417657	56417657	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:56417657G>A	uc003pcy.4	-	41	8172	c.8064C>T	c.(8062-8064)taC>taT	p.Y2688Y		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	5100					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACATGGTCAGGTATTTGTTAC	0.453000														155			39		0	0	1	0	0
ZNF548	147694	broad.mit.edu	37	19	57909869	57909869	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57909869A>G	uc002qon.3	+	3	500	c.250A>G	c.(250-252)Aca>Gca	p.T84A	ZNF548_uc002qom.3_Missense_Mutation_p.T72A|ZNF17_uc021vck.1_Intron	NM_001172773	NP_001166244	Q8NEK5	ZN548_HUMAN	Homo sapiens zinc finger protein 548 (ZNF548), transcript variant 1, mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTCAGAGGTTACAGCTTCAAA	0.512000														141			29		0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32196611	32196611	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32196611G>A	uc001btn.3	-	28	4524	c.4170C>T	c.(4168-4170)gcC>gcT	p.A1390A	BAI2_uc010ogn.2_Silent_p.A360A|BAI2_uc010ogo.2_Silent_p.A999A|BAI2_uc010ogp.2_Silent_p.A1323A|BAI2_uc010ogq.2_Silent_p.A1357A|BAI2_uc001bto.3_Silent_p.A1390A|BAI2_uc001btp.1_Silent_p.A384A	NM_001703	NP_001694	O60241	BAI2_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 2 (BAI2), mRNA.	1390					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTTCAGTGTGGGCCACTGTCT	0.677000														71			15		0	0	1	0	0
IDUA	3425	broad.mit.edu	37	4	995495	995495	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:995495G>A	uc003gby.3	+	5	706	c.618G>A	c.(616-618)tcG>tcA	p.S206S	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.S159S	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	206					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ATGCCTGCTCGGAGGGTCTGC	0.716000														52			15		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064172	79064172	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064172C>A	uc002bej.4	-	15	2343	c.2132_splice	c.e15-1	p.G711_splice	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	711	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCACATACCCTGTCAGCCAA	0.637000														56			11		1.08611e-07	1.17606e-07	1	1	0
LILRA1	11024	broad.mit.edu	37	19	55086372	55086372	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55086372C>A	uc010ern.3	+	4	996	c.527C>A	c.(526-528)tCc>tAc	p.S176Y	LILRA1_uc002qgg.4_Missense_Mutation_p.S176Y|LILRA1_uc002qgf.3_Missense_Mutation_p.S176Y|LILRA1_uc010yfe.1_Missense_Mutation_p.S176Y|LILRA1_uc010yff.1_Missense_Mutation_p.S164Y|LILRA1_uc010ero.3_Missense_Mutation_p.S164Y|LILRA1_uc010yfg.1_Missense_Mutation_p.S176Y			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	178	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CGTGGGTGGTCCTGGGCCATC	0.567000														301			32		1.06801e-11	1.22009e-11	1	1	0
CDH13	1012	broad.mit.edu	37	16	83704532	83704532	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:83704532C>T	uc010vns.2	+	9	1644	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	CDH13_uc002fgx.3_Silent_p.I413I|CDH13_uc010vnt.2_Silent_p.I159I|CDH13_uc010vnu.2_Silent_p.I374I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	413	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GCTTTGAAATCCACACCAACC	0.517000														248			24		0	0	1	0	0
TTC21A	199223	broad.mit.edu	37	3	39170682	39170682	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39170682G>A	uc003cjc.2	+	14	2214	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	TTC21A_uc011ayx.1_Silent_p.A631A|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	679							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGACGTGGCGCTGAACATGC	0.547000														157			31		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95596505	95596505	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95596505C>T	uc001ydw.2	-	5	675	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	DICER1_uc021sbc.1_Missense_Mutation_p.A155T|DICER1_uc001ydv.2_Missense_Mutation_p.A145T|DICER1_uc001ydx.2_Missense_Mutation_p.A155T	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	155	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACATTCAAGGCGACATAGCAA	0.353000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					41			6		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113853894	113853894	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113853894G>A	uc010rxb.2	+	4	678	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	HTR3A_uc010rxa.2_Missense_Mutation_p.G149S|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.G128S	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.K149R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCGGCATCAAGGCGAAGTTCA	0.537000														251			54		0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4615444	4615444	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4615444G>A	uc010qyi.2	+	0	176	c.176G>A	c.(175-177)cGg>cAg	p.R59Q		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATTCCACTCGGCATGAGCCC	0.512000														215			73		0	0	1	0	0
IL23R	149233	broad.mit.edu	37	1	67705865	67705865	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:67705865A>G	uc001ddo.3	+	8	1134	c.1049A>G	c.(1048-1050)aAc>aGc	p.N350S	IL23R_uc009waz.3_Missense_Mutation_p.N147S|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.2_Intron|IL23R_uc010opj.2_Intron|IL23R_uc010opk.2_Intron|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_Missense_Mutation_p.N96S|IL23R_uc010opn.2_Missense_Mutation_p.N195S|IL23R_uc001ddr.3_Intron|IL23R_uc010opo.1_Missense_Mutation_p.N209S|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.N179S|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_5'UTR|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_Missense_Mutation_p.N147S|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_Missense_Mutation_p.N46S|IL23R_uc010opv.2_Missense_Mutation_p.N108S|IL23R_uc010opw.2_Intron|IL23R_uc010opx.2_5'UTR|IL23R_uc010opy.2_Missense_Mutation_p.N117S|IL23R_uc010opz.2_5'UTR|IL23R_uc010oqa.2_5'UTR|IL23R_uc010oqb.2_Missense_Mutation_p.N179S|IL23R_uc010oqc.2_Missense_Mutation_p.N66S|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_Intron|IL23R_uc010oqg.2_Intron|IL23R_uc001dds.3_Missense_Mutation_p.N95S|IL23R_uc001ddt.3_Intron	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	350					inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TCATTAGACAACAGAGGAGAC	0.343000														57			5		0	0	1	0	0
SNX21	90203	broad.mit.edu	37	20	44463645	44463645	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44463645C>T	uc002xpv.1	+	2	426	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	SNX21_uc002xpt.1_Missense_Mutation_p.R113W|SNX21_uc002xps.1_Missense_Mutation_p.R113W|SNX21_uc002xpu.1_Missense_Mutation_p.R113W|SNX21_uc002xpw.1_5'UTR|SNX21_uc010zxd.1_Missense_Mutation_p.R104W|SNX21_uc002xpy.1_5'UTR	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	113					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	p.A112V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCCTGGCGCGGCAGCTGCA	0.617000														244			48		0	0	1	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243280	23243280	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23243280G>A	uc001wgr.4	-	8	1429	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	SLC7A7_uc001wgs.4_Silent_p.L431L|SLC7A7_uc001wgt.4_Silent_p.L431L|SLC7A7_uc001wgu.4_Silent_p.L431L|SLC7A7_uc001wgv.4_Silent_p.L431L	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	431					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		ACAGCCACCAGGAAGATGGTG	0.493000														95			17		0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66514984	66514984	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:66514984G>A	uc003tvn.3	+	7	1182	c.1033G>A	c.(1033-1035)Ggg>Agg	p.G345R	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	345					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CAGGAACATGGGGAGGAATGA	0.373000														59			9		0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862343	72862343	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72862343C>T	uc010wrl.2	-	4	633	c.546G>A	c.(544-546)cgG>cgA	p.R182R	FDXR_uc010wri.2_Silent_p.R87R|FDXR_uc010wrj.2_Silent_p.R137R|FDXR_uc002jlw.3_5'UTR|FDXR_uc002jlx.3_Silent_p.R139R|FDXR_uc002jly.3_Silent_p.R139R|FDXR_uc010wrk.2_Silent_p.R170R|FDXR_uc010wrm.2_Silent_p.R99R|FDXR_uc002jlz.3_Silent_p.R131R|FDXR_uc002jmb.3_Non-coding_Transcript	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	139					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					TTTCCAGGGCCCGATGGTCCT	0.647000														138			39		0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77147265	77147265	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:77147265G>A	uc011bgk.2	+	1	805	c.162G>A	c.(160-162)gcG>gcA	p.A54A	ROBO2_uc021xat.1_Silent_p.A70A|ROBO2_uc003dpy.4_Silent_p.A54A|ROBO2_uc003dpz.3_Silent_p.A54A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	54	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGCAAGGCGGAGGGCCGGC	0.617000														97			5		0	0	1	0	0
ELMO3	79767	broad.mit.edu	37	16	67233304	67233304	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67233304C>T	uc002esa.3	+	0	277	c.234C>T	c.(232-234)gaC>gaT	p.D78D	ELMO3_uc002esb.3_Silent_p.D78D|ELMO3_uc002esc.3_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	25					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TCCAGCTGGACCAGGTCACCC	0.716000														167			19		0	0	1	0	0
LILRA5	353514	broad.mit.edu	37	19	54822915	54822915	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54822915G>T	uc002qfe.3	-	4	601	c.481C>A	c.(481-483)Cag>Aag	p.Q161K	LILRA5_uc002qff.3_Missense_Mutation_p.Q149K|LILRA5_uc010yev.2_Missense_Mutation_p.Q161K|LILRA5_uc010yew.2_Missense_Mutation_p.Q149K|LILRA5_uc002qfg.1_Missense_Mutation_p.Q161K|LILRA5_uc002qfh.1_Missense_Mutation_p.Q149K	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	161	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGCCACACTGGAGGGTCACG	0.562000														167			43		1.02591e-13	1.19863e-13	1	1	0
TANC2	26115	broad.mit.edu	37	17	61473130	61473130	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61473130G>T	uc002jal.4	+	15	2879	c.2856G>T	c.(2854-2856)caG>caT	p.Q952H	TANC2_uc010wpe.2_Missense_Mutation_p.Q862H|TANC2_uc002jan.1_Missense_Mutation_p.Q103H|TANC2_uc002jao.4_Missense_Mutation_p.Q53H	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	952							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						AGAACGGGCAGTGTGCTTTGG	0.502000														31			5		0.000602214	0.000618135	1	1	0
HERC2	8924	broad.mit.edu	37	15	28357165	28357165	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:28357165T>C	uc001zbj.3	-	92	14355	c.14249A>G	c.(14248-14250)aAc>aGc	p.N4750S	HERC2_uc001zbi.3_Missense_Mutation_p.N439S	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4750	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTCTGGAGGGTTGTATTTATC	0.473000														130			15		0	0	1	0	0
CPNE5	57699	broad.mit.edu	37	6	36714294	36714294	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:36714294G>A	uc003omr.1	-	15	1146	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	CPNE5_uc003omp.1_Missense_Mutation_p.A68V|CPNE5_uc010jwn.1_Missense_Mutation_p.A10V|CPNE5_uc003omq.1_Missense_Mutation_p.A10V	NM_020939	NP_065990	Q9HCH3	CPNE5_HUMAN	Homo sapiens copine V (CPNE5), mRNA.	360	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGCGCCAGCGCGTAGGCGTT	0.612000														130			20		0	0	1	0	0
SEMA3C	10512	broad.mit.edu	37	7	80374463	80374463	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:80374463G>A	uc011kgw.2	-	17	2136	c.2057C>T	c.(2056-2058)gCt>gTt	p.A686V	SEMA3C_uc003uhj.3_Missense_Mutation_p.A668V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	668					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CGTCACAACAGCCACCATTTC	0.483000														143			25		0	0	1	0	0
DBP	1628	broad.mit.edu	37	19	49134254	49134254	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49134254C>T	uc002pjx.4	-	3	1206	c.818G>A	c.(817-819)cGt>cAt	p.R273H	DBP_uc002pjy.2_3'UTR	NM_001352	NP_001343	Q10586	DBP_HUMAN	Homo sapiens D site of albumin promoter (albumin D-box) binding protein (DBP), mRNA.	273					regulation of transcription from RNA polymerase II promoter|rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CCGGGCGTCACGGGACCGCTT	0.642000														56			14		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647028	179647028	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179647028C>A	uc021vsy.1	-	19	3516	c.3291G>T	c.(3289-3291)ggG>ggT	p.G1097G	TTN_uc021vsz.1_Silent_p.G1051G|TTN_uc021vta.1_Silent_p.G1051G|TTN_uc021vtb.1_Silent_p.G1051G|TTN_uc002unb.2_Silent_p.G1097G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1097	Ig-like 4.						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)			ACACCACGCTCCCACCTTCCA	0.498000														123			30		7.01153e-11	7.92827e-11	1	1	0
TRPV1	7442	broad.mit.edu	37	17	3493604	3493604	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3493604C>A	uc010vro.2	-	3	720	c.687G>T	c.(685-687)caG>caT	p.Q229H	TRPV1_uc010vrp.2_Missense_Mutation_p.Q229H|TRPV1_uc010vrq.2_Missense_Mutation_p.Q227H|TRPV1_uc010vrr.2_Missense_Mutation_p.Q229H|TRPV1_uc010vrs.2_Missense_Mutation_p.Q229H|TRPV1_uc010vrt.2_Missense_Mutation_p.Q229H|TRPV1_uc010vru.2_Missense_Mutation_p.Q229H	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	229					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGGCCGCAGCCTGGACGTCTG	0.582000														193			23		4.72057e-08	5.14176e-08	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66467583	66467583	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66467583C>T	uc003dmx.3	-	3	487	c.473G>A	c.(472-474)tGc>tAc	p.C158Y	LRIG1_uc010hnz.3_5'UTR|LRIG1_uc010hoa.3_Missense_Mutation_p.C158Y	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	158						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GTGTGGAAAGCAGGTGTTCCG	0.552000														326			87		0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101085608	101085608	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101085608T>C	uc003dut.3	-	8	1095	c.984A>G	c.(982-984)aaA>aaG	p.K328K	SENP7_uc003duu.3_Silent_p.K263K|SENP7_uc003duv.3_Silent_p.K295K|SENP7_uc003duw.3_Silent_p.K262K|SENP7_uc003dux.3_Silent_p.K164K	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	328					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CATCTTCTTGTTTTTTCTAAA	0.274000														40			4		0	0	1	0	0
THADA	63892	broad.mit.edu	37	2	43625219	43625219	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:43625219A>C	uc002rsw.4	-	28	4470	c.4118T>G	c.(4117-4119)tTt>tGt	p.F1373C	THADA_uc010far.3_Missense_Mutation_p.F568C|THADA_uc002rsx.4_Missense_Mutation_p.F1373C|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.F1082C|THADA_uc010fat.1_Missense_Mutation_p.F520C	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1373							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TATCATAACAAATGGGACCAA	0.473000														139			47		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046363	69046363	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:69046363C>T	uc010fdg.3	+	8	1531	c.1112C>T	c.(1111-1113)cCc>cTc	p.P371L	ARHGAP25_uc010yql.2_Missense_Mutation_p.P331L|ARHGAP25_uc002sev.3_Missense_Mutation_p.P364L|ARHGAP25_uc002sew.3_Missense_Mutation_p.P363L|ARHGAP25_uc002sex.3_Missense_Mutation_p.P364L	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	370					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AAAAATGACCCCAAGAAAGCT	0.512000														269			45		0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796902	127796902	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127796902C>T	uc003qbd.3	-	5	3134	c.2269G>A	c.(2269-2271)Gcg>Acg	p.A757T	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	757						integral to membrane											TTCTTGCCCGCGTCGCTCTCG	0.697000														279			56		0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650590	75650590	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:75650590T>G	uc004ecm.2	+	0	2545	c.2267T>G	c.(2266-2268)tTt>tGt	p.F756C		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	756	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGCAGTTATTTCTGCTTATG	0.463000														107			31		0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57796239	57796239	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57796239G>T	uc003hch.3	+	3	1562	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	REST_uc003hci.3_Missense_Mutation_p.Q405H|REST_uc010ihf.3_Missense_Mutation_p.Q79H	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	405	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTAATCTACAGTATCACTTCA	0.388000														161			30		3.80469e-20	4.63894e-20	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29610474	29610474	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29610474G>A	uc001bru.3	+	12	2294	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	PTPRU_uc009vtq.3_Missense_Mutation_p.R722H|PTPRU_uc009vtr.3_Missense_Mutation_p.R722H|PTPRU_uc001brw.3_Missense_Mutation_p.R722H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	722					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AATTGCATCCGCATTGCCAGG	0.627000														266			33		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405897	132405897	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132405897C>A	uc001uje.3	+	27	3412	c.3144C>A	c.(3142-3144)atC>atA	p.I1048I		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	1048					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		TGACTGGCATCTGTGCCTGAC	0.677000														353			94		4.09499e-44	5.21516e-44	1	1	0
MTR	4548	broad.mit.edu	37	1	237054561	237054561	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237054561C>T	uc001hyi.4	+	28	3559	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	MTR_uc010pxw.2_Silent_p.L639L|MTR_uc010pxx.2_Silent_p.L995L|MTR_uc010pxy.2_Silent_p.L900L	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	1046	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGACATTCACCTGTACGCAGA	0.552000														222			77		0	0	1	0	0
ZNF524	147807	broad.mit.edu	37	19	56114114	56114114	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56114114G>A	uc002qlk.1	+	1	719	c.636G>A	c.(634-636)acG>acA	p.T212T	FIZ1_uc002qlj.4_5'Flank|ZNF524_uc021vbz.1_Silent_p.T212T	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	Homo sapiens zinc finger protein 524 (ZNF524), mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T212T(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		AGGCCAACACGCTCCGGCGCC	0.706000														58			13		0	0	1	0	0
RAF1	5894	broad.mit.edu	37	3	12626108	12626108	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:12626108G>T	uc003bxf.4	-	16	2267	c.1852C>A	c.(1852-1854)Cgg>Agg	p.R618R	RAF1_uc011aut.2_Silent_p.R403R|RAF1_uc011auu.2_Silent_p.R536R	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	618					Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.R618R(1)	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	GAAGCGCTCCGGTTGATCTTC	0.532000			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome					141			24		3.7963e-18	4.57459e-18	1	1	0
NPAS2	4862	broad.mit.edu	37	2	101606760	101606760	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101606760G>T	uc010yvt.1	+	17	2067	c.2065G>T	c.(2065-2067)Ggc>Tgc	p.G689C	NPAS2_uc002tap.1_Missense_Mutation_p.G624C|NPAS2_uc010fit.1_Intron	NM_002518	NP_002509	Q99743	NPAS2_HUMAN	Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA.	624					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.D689D(1)		cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCAGAGCAGCGGCCGCTCTGG	0.572000														191			49		6.17242e-35	7.81509e-35	1	1	0
EML2	24139	broad.mit.edu	37	19	46130084	46130084	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46130084G>T	uc010xxm.2	-	10	1296	c.1223C>A	c.(1222-1224)gCt>gAt	p.A408D	EML2_uc002pcn.3_Missense_Mutation_p.A207D|EML2_uc002pcp.3_Missense_Mutation_p.A91D|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.A354D|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.A207D|EML2_uc010ekj.3_Missense_Mutation_p.A207D|EML2_uc010ekk.1_Non-coding_Transcript	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	207					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CACCAATACAGCCTCATTGGA	0.582000														61			12		2.80697e-09	3.10977e-09	1	1	0
TRMT5	57570	broad.mit.edu	37	14	61446005	61446005	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61446005C>T	uc001xff.4	-	1	702	c.611G>A	c.(610-612)gGa>gAa	p.G204E	SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	204						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCAATATGTCCAATCCTGCT	0.368000														87			5		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954869	33954869	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954869C>A	uc001zhi.3	+	34	5208	c.5138C>A	c.(5137-5139)cCt>cAt	p.P1713H	RYR3_uc010bar.3_Missense_Mutation_p.P1713H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1713	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCGAGACCCTGTAGGGGGG	0.562000														96			26		1.77063e-15	2.09702e-15	1	1	0
PLXDC1	57125	broad.mit.edu	37	17	37262146	37262146	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37262146C>T	uc002hrg.2	-	6	984	c.772G>A	c.(772-774)Gat>Aat	p.D258N	LOC100131347_uc002hrf.1_Intron|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	258					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATGAAGGCATCCGATAGGCCG	0.587000														212			59		0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566151	73566151	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73566151C>A	uc002joh.3	+	14	1843	c.1689C>A	c.(1687-1689)cgC>cgA	p.R563R	LLGL2_uc002joi.3_Silent_p.R563R|LLGL2_uc010dgg.2_Silent_p.R563R|LLGL2_uc002joj.3_Silent_p.R552R|LLGL2_uc010wsd.2_Silent_p.R190R	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	563					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCACGAGCGCCTGGCAGCCC	0.667000														73			13		0.00010058	0.000104357	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390256	22390256	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390256C>A	uc003gqm.1	-	18	3303	c.3038G>T	c.(3037-3039)gGg>gTg	p.G1013V	GPR125_uc010ieo.1_Missense_Mutation_p.G869V|GPR125_uc003gql.1_Missense_Mutation_p.G140V	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	1013					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AGCCAAAGCCCCAAACATCCA	0.443000														99			21		7.41877e-09	8.17068e-09	1	1	0
CDT1	81620	broad.mit.edu	37	16	88872999	88872999	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88872999G>A	uc002flu.3	+	6	1093	c.1039G>A	c.(1039-1041)Gcg>Acg	p.A347T		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	347					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGAGCCGGCCGCGCTGCCCCA	0.692000														48			16		0	0	1	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37679320	37679320	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:37679320G>A	uc001uwm.1	-	0	482	c.74C>T	c.(73-75)tCt>tTt	p.S25F		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	25	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		AAAGGAGCCAGACCCGATCTT	0.557000														161			31		0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38408309	38408309	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38408309G>A	uc003cic.2	+	6	627	c.518G>A	c.(517-519)gGg>gAg	p.G173E	XYLB_uc011ayp.1_Missense_Mutation_p.G36E|XYLB_uc003cid.1_Missense_Mutation_p.G95E	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	173					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CGTTTTACAGGGAACCAAATT	0.393000														70			17		0	0	1	0	0
CCDC60	160777	broad.mit.edu	37	12	119909945	119909945	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:119909945T>A	uc001txe.3	+	2	782	c.317T>A	c.(316-318)aTc>aAc	p.I106N	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	106										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATCTCAGAAATCCACTATGGG	0.448000														303			80		0	0	1	0	0
NCK1	4690	broad.mit.edu	37	3	136664506	136664506	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:136664506G>A	uc003erh.3	+	2	438	c.308G>A	c.(307-309)cGt>cAt	p.R103H	NCK1_uc011bme.2_Missense_Mutation_p.R39H	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	103					T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						CCAGGGGAACGTCTCTATGAC	0.418000														172			11		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33527365	33527365	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33527365A>G	uc003jia.1	-	23	4876	c.4713T>C	c.(4711-4713)tgT>tgC	p.C1571C	ADAMTS12_uc010iuq.1_Silent_p.C1486C	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1571	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGTCTGGGGACACGAGAAGC	0.502000										HNSCC(64;0.19)				317			24		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	376150	376150	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:376150G>A	uc001lpb.3	+	11	1181	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	391						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTTCTACCGCGAGTCTCCG	0.692000														92			19		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31326314	31326314	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:31326314G>A	uc010dmg.1	+	11	6557	c.6502G>A	c.(6502-6504)Gca>Aca	p.A2168T	ASXL3_uc002kxq.2_Missense_Mutation_p.A1875T	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	2168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAAAAGGGCAGCATCTGCAAT	0.473000														216			60		0	0	1	0	0
DHX38	9785	broad.mit.edu	37	16	72138495	72138495	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72138495T>C	uc002fcb.3	+	14	2476	c.2121T>C	c.(2119-2121)cgT>cgC	p.R707R	DHX38_uc010vmp.2_Intron	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	707					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCTGGCCGTACCTTCCCTG	0.547000														207			50		0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16556588	16556588	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16556588G>T	uc001ioj.1	-	1	1647	c.707C>A	c.(706-708)gCc>gAc	p.A236D		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	236	C1q.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCCTCCATGGGCTTTCCCGCC	0.398000														121			20		1.28384e-07	1.38782e-07	1	1	0
NEFM	4741	broad.mit.edu	37	8	24772180	24772180	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24772180T>C	uc003xed.4	+	0	907	c.874T>C	c.(874-876)Ttc>Ctc	p.F292L	NEFM_uc011lac.1_Missense_Mutation_p.F292L|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	292	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGAAGAGTGGTTCAAATGCCG	0.597000														123			10		0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713106	52713106	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52713106G>A	uc001saf.2	-	1	490	c.427C>T	c.(427-429)Ctg>Ttg	p.L143L		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	143	Coil 1A.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TAGAACTGCAGCTTTGTCTCC	0.592000														202			13		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752374	38752374	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38752374G>A	uc003ciq.3	-	22	4104	c.4104C>T	c.(4102-4104)ggC>ggT	p.G1368G		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1368					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGTCCATCCAGCCTTTAAAGG	0.542000														41			6		0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483495	31483495	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:31483495A>C	uc002rnu.3	+	3	1230	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	208					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAAAGCCCTCAAGAACCACGA	0.552000														85			30		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754632	140754632	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754632C>T	uc003ljy.2	+	0	982	c.982C>T	c.(982-984)Cga>Tga	p.R328*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R328*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	331	Cadherin 3.				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)			GCCAGGTCTTCGAGACAGAGC	0.428000														244			40		0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911059	46911059	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46911059G>A	uc001ndn.4	-	15	2361	c.2118C>T	c.(2116-2118)aaC>aaT	p.N706N		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	706	EGF-like 3.				Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGCAGCCTCCGTTGTTGTCCC	0.587000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		206			50		0	0	1	0	0
ZNF132	7691	broad.mit.edu	37	19	58945235	58945235	+	Missense_Mutation	SNP	G	A	A	rs142712450		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58945235G>A	uc002qst.4	-	2	1977	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CTGGAGCTGCGGCTGAAGGAT	0.498000														92			20		0	0	1	0	0
TAB2	23118	broad.mit.edu	37	6	149699842	149699842	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:149699842C>A	uc003qmj.3	+	2	969	c.791C>A	c.(790-792)cCt>cAt	p.P264H	TAB2_uc011eec.2_Missense_Mutation_p.P232H|TAB2_uc010kia.1_Missense_Mutation_p.P264H|TAB2_uc010kib.2_Missense_Mutation_p.P264H|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	264					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|heart development|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GCATCTAATCCTCTGTCACAT	0.488000														228			48		2.24722e-20	2.74335e-20	1	1	0
HAUS5	23354	broad.mit.edu	37	19	36109792	36109792	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36109792G>T	uc002oam.1	+	12	1071	c.1020G>T	c.(1018-1020)caG>caT	p.Q340H		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	340					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CCTGCAGGCAGGTGCTGATAC	0.617000														144			10		4.68919e-08	5.11014e-08	1	1	0
CA3	761	broad.mit.edu	37	8	86352068	86352068	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86352068C>A	uc003ydj.3	+	1	245	c.162C>A	c.(160-162)ggC>ggA	p.G54G	CA13_uc003ydf.1_Non-coding_Transcript|CA3_uc011lfv.2_Non-coding_Transcript	NM_005181	NP_005172	P07451	CAH3_HUMAN	Homo sapiens carbonic anhydrase III, muscle specific (CA3), mRNA.	54					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGATGGTGGCTCTGCCAAGA	0.463000														107			26		4.40665e-25	5.48893e-25	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138603904	138603904	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138603904C>T	uc011kql.2	-	1	517	c.468G>A	c.(466-468)gaG>gaA	p.E156E	KIAA1549_uc011kqj.2_Silent_p.E156E	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	156						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGTTATCCATCTCATCGTCAT	0.488000			O	BRAF	pilocytic astrocytoma									270			49		0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43615116	43615116	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43615116C>T	uc001jal.3	+	13	2720	c.2530C>T	c.(2530-2532)Cgg>Tgg	p.R844W	RET_uc001jak.1_Missense_Mutation_p.R844W|RET_uc010qez.1_Missense_Mutation_p.R590W	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	844	Protein kinase.		R -> L (in MTC; familial form; dbSNP:rs55947360).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGGATGAGCGGGCCCTCAC	0.647000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					126			15		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71233036	71233036	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71233036A>G	uc002jjm.4	+	2	1609	c.1415A>G	c.(1414-1416)tAc>tGc	p.Y472C	C17orf80_uc010wqu.1_Missense_Mutation_p.Y472C|C17orf80_uc010dfj.3_Missense_Mutation_p.Y472C|C17orf80_uc002jjk.1_Missense_Mutation_p.Y472C|C17orf80_uc002jjl.4_Missense_Mutation_p.Y472C	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	472						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			TATCCTGGTTACCTTGGACTA	0.552000														104			16		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99227162	99227162	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227162C>A	uc003url.1	+	7	1481	c.1154C>A	c.(1153-1155)aCc>aAc	p.T385N	ZNF498_uc003urm.1_Missense_Mutation_p.T221N|ZNF498_uc010lge.1_Missense_Mutation_p.T221N|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.T313N|ZNF498_uc003uro.1_Missense_Mutation_p.T169N	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	385					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AAGGGCTTTACCCTGAGAGAA	0.552000														147			31		6.07407e-21	7.43637e-21	1	1	0
ZFP14	57677	broad.mit.edu	37	19	36831798	36831798	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36831798C>A	uc010xtd.2	-	3	1012	c.933G>T	c.(931-933)aaG>aaT	p.K311N	ZFP14_uc010eex.2_Missense_Mutation_p.K310N	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					ATTCATAGAGCTTTTCAGCAG	0.418000														129			20		0.000132079	0.000137	1	1	0
ZNF273	10793	broad.mit.edu	37	7	64389265	64389265	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:64389265G>A	uc003tto.3	+	3	1635	c.1559G>A	c.(1558-1560)gGc>gAc	p.G520D	ZNF273_uc003ttl.3_Missense_Mutation_p.G455D|ZNF273_uc003ttn.3_Missense_Mutation_p.G455D	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				GAAGAATGTGGCAAAGCTTTT	0.378000														88			8		0	0	1	0	0
UTRN	7402	broad.mit.edu	37	6	144780066	144780066	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:144780066G>A	uc003qkt.3	+	18	2537	c.2445G>A	c.(2443-2445)aaG>aaA	p.K815K	UTRN_uc010khq.1_Silent_p.K815K	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	815	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGGTCATCAAGACAAAGGAGG	0.423000														74			15		0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133359027	133359027	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133359027T>C	uc001ukz.1	-	16	3879	c.3320A>G	c.(3319-3321)aAc>aGc	p.N1107S	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.N1107S	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1107					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.N1107S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAACTTCTTGTTTGACTCCTC	0.468000														240			46		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42266125	42266125	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42266125G>T	uc002orm.2	+	3	1101	c.952G>T	c.(952-954)Gtc>Ttc	p.V318F		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	318					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		GATGATCACAGTCTCTGGTAA	0.468000														76			17		0.000422831	0.000435635	1	1	0
ZRANB2	9406	broad.mit.edu	37	1	71536592	71536592	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:71536592G>A	uc001dft.3	-	6	895	c.601C>T	c.(601-603)Cga>Tga	p.R201*	ZRANB2_uc001dfs.3_Nonsense_Mutation_p.R201*	NM_203350	NP_976225	O95218	ZRAB2_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 2 (ZRANB2), transcript variant 1, mRNA.	201	Arg/Ser-rich.|Required for nuclear targeting.				RNA splicing|mRNA processing	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						GAGCGACTTCGTCTATTAGAT	0.408000														105			8		0	0	1	0	0
CPNE9	151835	broad.mit.edu	37	3	9746668	9746668	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9746668C>T	uc021wst.1	+	3	421	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	CPNE9_uc003bsd.3_Missense_Mutation_p.R84C	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	84	C2 1.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GCAAAATCTGCGCTTCGATGT	0.602000														34			9		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190924940	190924940	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:190924940C>A	uc002urp.3	-	1	728	c.595G>T	c.(595-597)Ggc>Tgc	p.G199C		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	199					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			ATACCAGTGCCTGGGTTCATG	0.408000														215			55		6.56871e-35	8.3154e-35	1	1	0
KLHL11	55175	broad.mit.edu	37	17	40010534	40010534	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40010534T>C	uc002hyf.1	-	1	1591	c.1585A>G	c.(1585-1587)Aca>Gca	p.T529A		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	529						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CGAGTCTCTGTATCATAGCAA	0.438000														113			33		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108257	168108257	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108257A>C	uc002udx.3	+	8	10444	c.10355A>C	c.(10354-10356)aAg>aCg	p.K3452T	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K3277T|XIRP2_uc010fpq.3_Missense_Mutation_p.K3230T|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3277					actin cytoskeleton organization	cell junction	actin binding	p.F3451F(1)		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						TGTGACTTCAAGCATGCCCCA	0.403000														95			24		0	0	1	0	0
USP38	84640	broad.mit.edu	37	4	144141476	144141476	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:144141476C>T	uc003ijb.3	+	9	3530	c.2996C>T	c.(2995-2997)gCc>gTc	p.A999V	USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	999					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					CGAGCCCGGGCCCTCCAAGCT	0.428000														92			25		0	0	1	0	0
GALR2	8811	broad.mit.edu	37	17	74073063	74073063	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74073063C>A	uc002jqm.1	+	1	788	c.715C>A	c.(715-717)Ctc>Atc	p.L239I	ZACN_uc002jqn.2_5'Flank|ZACN_uc002jqo.2_5'Flank|ZACN_uc010dgu.2_5'Flank	NM_003857	NP_003848	O43603	GALR2_HUMAN	Homo sapiens galanin receptor 2 (GALR2), mRNA.	239					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						ACGCATGATCCTCATCGTGGC	0.701000														98			22		1.10923e-09	1.2355e-09	1	1	0
CCNJ	54619	broad.mit.edu	37	10	97817750	97817750	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:97817750C>T	uc010qoq.2	+	5	1263	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Missense_Mutation_p.R291C|CCNJ_uc001kln.3_Missense_Mutation_p.R290C	NM_001134375	NP_001127847	Q5T5M9	CCNJ_HUMAN	Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.	291						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		ACTGCAGTATCGCCATCCTAC	0.498000														222			56		0	0	1	0	0
ALPP	250	broad.mit.edu	37	2	233244473	233244473	+	Splice_Site	SNP	G	T	T	rs1130343		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:233244473G>T	uc002vsq.3	+	5	650	c.485_splice	c.e5-1	p.G162_splice		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	162						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GACACCCTTAGGGAAGTCAGT	0.617000														109			34		4.74835e-14	5.56603e-14	1	1	0
PHF20L1	51105	broad.mit.edu	37	8	133827072	133827072	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133827072T>G	uc003ytt.3	+	9	1446	c.1121T>G	c.(1120-1122)tTa>tGa	p.L374*	PHF20L1_uc003yts.3_Nonsense_Mutation_p.L374*|PHF20L1_uc011lja.2_Nonsense_Mutation_p.L348*|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	374							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCCCAGAATTAATACAAGTC	0.368000														135			21		0	0	1	0	0
SLC25A44	9673	broad.mit.edu	37	1	156169976	156169976	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156169976T>G	uc009wrr.3	+	1	660	c.338T>G	c.(337-339)cTg>cGg	p.L113R	SLC25A44_uc001fnp.3_Missense_Mutation_p.L113R|SLC25A44_uc010phc.2_Missense_Mutation_p.L113R|SLC25A44_uc010phd.2_Intron|SLC25A44_uc010phe.2_Intron	NM_014655	NP_055470	Q96H78	S2544_HUMAN	Homo sapiens solute carrier family 25, member 44 (SLC25A44), mRNA.	113					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					GTCAAATCACTGGTGGCTGGT	0.517000														98			25		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73480440	73480440	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73480440G>A	uc003xzb.3	+	1	1059	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	157					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGAGGCAGAGACTATGCGAG	0.458000														203			46		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860197	860197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:860197G>A	uc003gbm.4	-	21	3197	c.2998C>T	c.(2998-3000)Cac>Tac	p.H1000Y	GAK_uc003gbn.4_Missense_Mutation_p.H921Y|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.H853Y	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1000					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGAGCACTGTGGGCAGACGGG	0.627000														125			17		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152323561	152323561	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152323561T>C	uc001ezw.4	-	2	6774	c.6701A>G	c.(6700-6702)cAc>cGc	p.H2234R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2234							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATAACCATAGTGGGCATGTCT	0.542000														730			144		0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71825816	71825816	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:71825816G>A	uc010fen.3	+	32	3838	c.3697G>A	c.(3697-3699)Gcc>Acc	p.A1233T	DYSF_uc010fei.3_Missense_Mutation_p.A1232T|DYSF_uc010feh.3_Missense_Mutation_p.A1201T|DYSF_uc002sig.4_Missense_Mutation_p.A1201T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.A1246T|DYSF_uc010fee.3_Missense_Mutation_p.A1215T|DYSF_uc010fef.3_Missense_Mutation_p.A1232T|DYSF_uc002sie.3_Missense_Mutation_p.A1215T|DYSF_uc010feo.3_Missense_Mutation_p.A1247T|DYSF_uc010fej.3_Missense_Mutation_p.A1202T|DYSF_uc010fel.3_Missense_Mutation_p.A1202T|DYSF_uc010fem.3_Missense_Mutation_p.A1216T|DYSF_uc002sif.3_Missense_Mutation_p.A1216T|DYSF_uc010fek.3_Missense_Mutation_p.A1233T|DYSF_uc010yqy.2_Missense_Mutation_p.A96T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1215	C2 4.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGCGAGCCGGCCACAGTTGC	0.592000														162			8		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171804913	171804913	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:171804913T>G	uc002ugk.3	+	1	932	c.117T>G	c.(115-117)ttT>ttG	p.F39L	GORASP2_uc002ugj.3_5'UTR|GORASP2_uc010zdl.2_Missense_Mutation_p.F51L|GORASP2_uc010zdm.2_5'UTR|GORASP2_uc002ugl.3_5'UTR	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	39	PDZ.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						TCTTTGATTTTATTGTTTCTA	0.328000														44			6		0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88940025	88940025	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88940025C>T	uc001kei.4	+	6	2271	c.2157C>T	c.(2155-2157)agC>agT	p.S719S	FAM35A_uc001kej.4_Silent_p.S165S	NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	719										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AATGTTTTAGCTGCTTGCCAT	0.323000														65			24		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79030920	79030920	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79030920A>C	uc003kgc.3	+	1	6404	c.6332A>C	c.(6331-6333)aAg>aCg	p.K2111T		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2111						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTTCAGTCAAAGGTTATTGAT	0.433000														85			24		0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178627	114178627	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114178627A>G	uc004bfe.1	-	18	2223	c.2223T>C	c.(2221-2223)tcT>tcC	p.S741S	KIAA0368_uc010muc.1_Silent_p.S563S	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TCATTCGATGAGAAGCCTAAG	0.393000														44			11		0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394210	52394210	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52394210C>A	uc002pxy.3	-	4	1505	c.1179G>T	c.(1177-1179)caG>caT	p.Q393H	ZNF577_uc010yde.2_5'Flank|ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTGAATTTTCTGATGTCTAA	0.443000														159			24		1.9806e-07	2.14016e-07	1	1	0
GARS	2617	broad.mit.edu	37	7	30638502	30638502	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30638502C>A	uc003tbm.3	+	1	670	c.313C>A	c.(313-315)Ctg>Atg	p.L105M		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	105	WHEP-TRS.				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)	CAAGAGGGTTCTGGAAGCAAA	0.438000														62			13		1.61879e-10	1.82465e-10	1	1	0
CENPC1	1060	broad.mit.edu	37	4	68374686	68374686	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:68374686C>A	uc003hdd.1	-	9	1933	c.1750G>T	c.(1750-1752)Gca>Tca	p.A584S	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.A584S	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	584					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding	p.A584P(2)		NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						CCTTTAGTTGCTGTCTTCTGC	0.373000														88			15		1.15088e-07	1.24477e-07	1	1	0
DOCK5	80005	broad.mit.edu	37	8	26151208	26151208	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:26151208T>C	uc003xeu.3	+	1	363	c.34T>C	c.(34-36)Tgg>Cgg	p.W12R	DOCK5_uc003xek.3_Intron|DOCK5_uc011laf.2_Missense_Mutation_p.W22R	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	0	SH3.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGATATTCAGTGGTGTTTTTC	0.368000														74			16		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43236126	43236126	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43236126C>T	uc002yzq.1	-	25	3536	c.3425G>A	c.(3424-3426)tGc>tAc	p.C1142Y	PRDM15_uc002yzo.3_Missense_Mutation_p.C813Y|PRDM15_uc002yzp.3_Missense_Mutation_p.C833Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C833Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCACTCCTTGCACTCGTACTC	0.642000														188			24		0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082432	152082432	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152082432C>T	uc009wne.1	-	2	3533	c.3261G>A	c.(3259-3261)caG>caA	p.Q1087Q	TCHH_uc001ezp.2_Silent_p.Q1087Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1087	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cttcctcctgctgcagctcct	0.617000														318			55		0	0	1	0	0
TTLL5	23093	broad.mit.edu	37	14	76231067	76231067	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76231067C>T	uc010ask.2	+	19	1977	c.1702C>T	c.(1702-1704)Cgt>Tgt	p.R568C	TTLL5_uc001xrx.3_Missense_Mutation_p.R554C|TTLL5_uc001xrz.3_Missense_Mutation_p.R129C|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	554					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTGCGAAAACGTAGACGACG	0.507000														121			17		0	0	1	0	0
PPP1R3D	5509	broad.mit.edu	37	20	58514512	58514512	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58514512A>C	uc002ybb.3	-	0	841	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V	FAM217B_uc002yba.3_Intron|FAM217B_uc002ybc.3_5'Flank|FAM217B_uc010zzx.2_5'Flank	NM_006242	NP_006233	O95685	PPR3D_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3D (PPP1R3D), mRNA.	159					glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			GGCGGCGGGAAATCGGGCACC	0.672000														75			24		0	0	1	0	0
POLR2J	5439	broad.mit.edu	37	7	102114849	102114849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102114849C>T	uc003uzp.1	-	2	351	c.277G>A	c.(277-279)Gac>Aac	p.D93N		NM_006234	NP_006225	P52435	RPB11_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa (POLR2J), mRNA.	93					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|LRR domain binding|protein dimerization activity			pancreas(2)	2						CTGATGAGGTCGGTGATGGCG	0.647000														174			37		0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6820720	6820720	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6820720G>A	uc002mfu.1	+	1	309	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	VAV1_uc010xjh.1_Missense_Mutation_p.C71Y|VAV1_uc010dva.1_Missense_Mutation_p.C71Y|VAV1_uc002mfv.1_Missense_Mutation_p.C16Y	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	71	CH.|Leu-rich.				T cell costimulation|apoptosis|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|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAGTTCCTGTGCCTTAAGAAC	0.557000														183			50		0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981955	61981955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61981955C>T	uc002yes.2	-	4	986	c.808G>A	c.(808-810)Gag>Aag	p.E270K	CHRNA4_uc002yet.1_Missense_Mutation_p.E94K|CHRNA4_uc010gke.1_Missense_Mutation_p.E199K|CHRNA4_uc002yev.1_Missense_Mutation_p.E94K|CHRNA4_uc010gkf.1_Missense_Mutation_p.E94K	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	270					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGCCACACTCGGAGGGCAGG	0.597000														124			27		0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236205427	236205427	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236205427C>A	uc001hxo.3	-	3	1020	c.918G>T	c.(916-918)gaG>gaT	p.E306D	NID1_uc009xgd.3_Missense_Mutation_p.E306D	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	306					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TGCCCACATCCTCCAGGCCCA	0.607000														289			96		8.47766e-36	1.07426e-35	1	1	0
ST6GAL1	6480	broad.mit.edu	37	3	186793412	186793412	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186793412C>T	uc003frb.3	+	7	1675	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	ST6GAL1_uc003frc.3_Missense_Mutation_p.R117C|ST6GAL1_uc003frd.3_Missense_Mutation_p.R348C	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	348					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		CCCATCCAAGCGCAAGACTGA	0.512000														101			22		0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14929376	14929376	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:14929376C>A	uc004cwi.3	+	8	844	c.720C>A	c.(718-720)agC>agA	p.S240R	MOSPD2_uc004cwj.3_Missense_Mutation_p.S177R	NM_152581	NP_001170946	Q8NHP6	MSPD2_HUMAN	Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA.	240			S -> N (in dbSNP:rs35164803).			integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					TCAAGTATAGCTATCCACCAC	0.373000														152			35		2.75727e-19	3.34553e-19	1	1	0
RANGAP1	5905	broad.mit.edu	37	22	41650462	41650462	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41650462T>C	uc003azs.3	-	9	2580	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	RANGAP1_uc003azt.3_Silent_p.E370E|RANGAP1_uc003azu.3_Silent_p.E370E|RANGAP1_uc011aoz.2_Silent_p.E315E	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	370	Asp/Glu-rich (highly acidic).				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cttcttcctcttctccttcct	0.567000														175			44		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70904002	70904002	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70904002G>A	uc021vjc.1	-	12	1784	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Nonsense_Mutation_p.R507*|ADD2_uc002sgz.3_Nonsense_Mutation_p.R507*|ADD2_uc010fdt.2_Nonsense_Mutation_p.R507*|ADD2_uc002shc.2_Nonsense_Mutation_p.R507*|ADD2_uc010fdu.2_Nonsense_Mutation_p.R523*	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	507					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ACATCTTGTCGGTTTTGTTCT	0.612000														149			32		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3789439	3789439	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:3789439C>T	uc010sen.1	-	4	877	c.305G>A	c.(304-306)gGc>gAc	p.G102D	EFCAB4B_uc001qmj.2_Missense_Mutation_p.G102D	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	102	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGTCAGATAGCCATTGCCATC	0.507000														96			23		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17937570	17937570	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937570G>A	uc002nhn.4	-	23	3457	c.3357C>T	c.(3355-3357)caC>caT	p.H1119H	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1119					B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AGGACAGGGAGTGGTGTTTGC	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									228			59		0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64132779	64132779	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64132779G>A	uc001oae.3	+	8	996	c.913G>A	c.(913-915)Gat>Aat	p.D305N	RPS6KA4_uc001oad.3_Missense_Mutation_p.D305N|RPS6KA4_uc010rnl.2_Missense_Mutation_p.D242N|RPS6KA4_uc001oaf.3_Missense_Mutation_p.D305N|RPS6KA4_uc009ypp.3_Missense_Mutation_p.D305N	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	305	AGC-kinase C-terminal.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TCAGGGCCTCGATTGGGTGGC	0.597000														112			28		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49167044	49167044	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49167044C>T	uc003cwe.3	-	10	1810	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H	LAMB2_uc003cwf.1_Missense_Mutation_p.R504H	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	504	Laminin EGF-like 4.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCAGGCAGCGGTCACATCC	0.572000														74			13		0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79175641	79175641	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:79175641G>A	uc001xun.3	+	3	675	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.E196K	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane		p.G61G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		AATCTATGGCGAAGTTGTGTT	0.468000														121			33		0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36590347	36590347	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36590347G>A	uc002odd.2	+	21	2658	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	WDR62_uc002odc.2_Missense_Mutation_p.R856H	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	856					cerebral cortex development	nucleus		p.K855N(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACGCCAAGCGCAGCTACCAG	0.622000														146			34		0	0	1	0	0
NCOA1	8648	broad.mit.edu	37	2	24905930	24905930	+	Silent	SNP	C	T	T	rs143048201		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24905930C>T	uc002rfk.3	+	5	724	c.465C>T	c.(463-465)agC>agT	p.S155S	NCOA1_uc010eye.3_Silent_p.S155S|NCOA1_uc002rfi.3_Silent_p.S4S|NCOA1_uc002rfj.3_Silent_p.S155S|NCOA1_uc002rfl.3_Silent_p.S155S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	155	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAATACGAGCGTCTACAGCA	0.368000			T	PAX3	alveolar rhadomyosarcoma									79			14		0	0	1	0	0
CDC23	8697	broad.mit.edu	37	5	137525388	137525388	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137525388G>A	uc003lcl.3	-	14	1588	c.1557C>T	c.(1555-1557)taC>taT	p.Y519Y		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	519					G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACTTAAAATAGTACTGGGCCA	0.373000														69			17		0	0	1	0	0
TMEM66	51669	broad.mit.edu	37	8	29923589	29923589	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:29923589C>A	uc003xhs.3	-	4	1093	c.909G>T	c.(907-909)tgG>tgT	p.W303C	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.W131C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	303						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		AAGCCCTATTCCACGTGCCAG	0.483000														152			24		4.87955e-14	5.71551e-14	1	1	0
ALDH3B2	222	broad.mit.edu	37	11	67433656	67433656	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67433656G>T	uc001omr.3	-	5	695	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	ALDH3B2_uc001oms.3_Missense_Mutation_p.L86M|ALDH3B2_uc009ysa.1_Missense_Mutation_p.L86M	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	86					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGTCCGCCCAGCACCACGGCA	0.647000														193			32		6.04164e-23	7.46519e-23	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137591908	137591908	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137591908C>T	uc004cfe.3	+	2	813	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	144	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCACACGGGGAAGCCT	0.627000														144			32		0	0	1	0	0
INSL6	11172	broad.mit.edu	37	9	5164187	5164187	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:5164187G>A	uc003zix.3	-	1	384	c.368C>T	c.(367-369)tCa>tTa	p.S123L		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	123						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		ACCAAGGGGTGAATATCCCTT	0.328000														75			12		0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157184947	157184947	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:157184947C>A	uc002tyz.4	-	3	1385	c.963G>T	c.(961-963)caG>caT	p.Q321H	NR4A2_uc021vri.1_Missense_Mutation_p.Q321H|NR4A2_uc002tyx.4_Missense_Mutation_p.Q258H|NR4A2_uc010zcf.2_Missense_Mutation_p.Q321H|NR4A2_uc010zcg.1_5'Flank	NM_006186	NP_006177	P43354	NR4A2_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA.	321					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						CCAGGCACTTCTGAAATCGGC	0.512000														170			33		9.65021e-13	1.11782e-12	1	1	0
GTPBP5	26164	broad.mit.edu	37	20	60768660	60768660	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:60768660C>T	uc002yce.4	+	1	222	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	GTPBP5_uc011aaf.2_Silent_p.L62L|GTPBP5_uc011aab.2_Intron|GTPBP5_uc011aac.2_Intron|GTPBP5_uc011aad.2_5'UTR|GTPBP5_uc011aae.2_Intron	NM_015666	NP_056481	Q9H4K7	GTPB5_HUMAN	Homo sapiens GTP binding protein 5 (putative) (GTPBP5), mRNA.	62	Localized in the mitocondria.|Not localized in the mitocondria.				ribosome biogenesis	mitochondrion	GTP binding|GTPase activity|magnesium ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)	15	Breast(26;3.52e-09)		BRCA - Breast invasive adenocarcinoma(19;2.5e-08)			GGGGAAGAAGCTGCTCTCTGA	0.622000														71			15		0	0	1	0	0
ZNF277	11179	broad.mit.edu	37	7	111936363	111936363	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111936363A>G	uc003vge.2	+	3	591	c.462A>G	c.(460-462)agA>agG	p.R154R	ZNF277_uc003vgd.3_Silent_p.R154R|ZNF277_uc003vgf.2_Silent_p.R76R	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	154						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						AGAAACAGAGACTGGTAAGAA	0.274000														72			13		0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20851745	20851745	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20851745C>A	uc002dhy.4	+	14	1956	c.1581C>A	c.(1579-1581)agC>agA	p.S527R	ERI2_uc002dht.3_Intron|LOC81691_uc002dhv.3_Missense_Mutation_p.S527R|LOC81691_uc002dhx.3_Missense_Mutation_p.S527R	NM_001199053	NP_001185982	Q96IC2	REXON_HUMAN	Homo sapiens exonuclease NEF-sp (LOC81691), transcript variant 3, mRNA.	527	RRM 1.					nucleolus	RNA binding|exonuclease activity|nucleotide binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|skin(1)	18						TGTTTAAAAGCTTTGGCCCAG	0.418000														119			33		7.72975e-29	9.7111e-29	1	1	0
SLC1A1	6505	broad.mit.edu	37	9	4576732	4576732	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4576732G>T	uc003zij.2	+	9	1415	c.1162G>T	c.(1162-1164)Gac>Tac	p.D388Y	SPATA6L_uc003zik.3_Intron	NM_004170	NP_004161	P43005	EAA3_HUMAN	Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA.	388					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GAATGACCTGGACTTGGGCAT	0.488000														169			37		1.30998e-17	1.57366e-17	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27877908	27877908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:27877908G>A	uc021ojw.1	-	0	719	c.719C>T	c.(718-720)gCt>gTt	p.A240V	AHDC1_uc009vsy.3_Missense_Mutation_p.A240V|AHDC1_uc009vsz.1_Missense_Mutation_p.A240V|AHDC1_uc001boh.1_Missense_Mutation_p.A113V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	240	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTCGGCGTCAGCAAGTTCTGA	0.667000														140			29		0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871626	8871626	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:8871626G>A	uc002qzc.2	-	29	4722	c.4540C>T	c.(4540-4542)Ctg>Ttg	p.L1514L	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.L1415L|KIDINS220_uc002qzb.2_Silent_p.L368L	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1514					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGATAGCGCAGCCCACTTCCC	0.458000														114			17		0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751503	62751503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62751503G>A	uc001nwk.3	-	1	719	c.386C>T	c.(385-387)tCt>tTt	p.S129F	SLC22A6_uc001nwl.3_Missense_Mutation_p.S129F|SLC22A6_uc001nwj.3_Missense_Mutation_p.S129F|SLC22A6_uc001nwm.3_Missense_Mutation_p.S129F	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	129					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCCCTGTGAGAGCACACAAG	0.622000														51			6		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991599	144991599	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991599C>T	uc003zaf.1	-	31	12971	c.12801G>A	c.(12799-12801)acG>acA	p.T4267T	PLEC_uc003zab.1_Silent_p.T4130T|PLEC_uc003zac.1_Silent_p.T4134T|PLEC_uc003zad.2_Silent_p.T4130T|PLEC_uc003zae.1_Silent_p.T4098T|PLEC_uc003zag.1_Silent_p.T4108T|PLEC_uc003zah.2_Silent_p.T4116T|PLEC_uc003zaj.2_Silent_p.T4157T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4267	Binding to intermediate filaments (By similarity).|Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACTTGGAGGACGTCTTCCGCT	0.612000														168			15		0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153698908	153698908	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153698908C>T	uc004flm.3	+	29	5283	c.5110C>T	c.(5110-5112)Cgc>Tgc	p.R1704C		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1704					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					GGCGGACCAGCGCCAGATCAG	0.632000														236			48		0	0	1	0	0
OBFC2B	79035	broad.mit.edu	37	12	56620171	56620171	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56620171A>G	uc001skk.3	+	4	538	c.479A>G	c.(478-480)cAg>cGg	p.Q160R	OBFC2B_uc001ski.3_Missense_Mutation_p.Q135R	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA.	135	Pro-rich.				G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCAGCTTCCCAGCCTACCACT	0.527000								Other identified genes with known or suspected DNA repair function						206			31		0	0	1	0	0
GNL1	2794	broad.mit.edu	37	6	30520942	30520942	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30520942G>A	uc003nqh.3	-	6	2214	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	GNL1_uc011dmi.2_Missense_Mutation_p.R137W|GNL1_uc011dmj.2_Missense_Mutation_p.R273W|GNL1_uc011dmk.2_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	275					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity	p.R275Q(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CCCCGCCTCCGACTCTTCTTC	0.602000														301			17		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61490390	61490390	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61490390T>C	uc001nsa.3	+	3	483	c.367T>C	c.(367-369)Tac>Cac	p.Y123H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	123					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CACTCAGTACTACACCTCCTG	0.612000														173			40		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538795	1538795	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1538795G>A	uc002fsz.1	-	10	1800	c.1750C>T	c.(1750-1752)Cgg>Tgg	p.R584W	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.R498W	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	584	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCTTGGCCCGAGCTAGGCTG	0.672000														289			20		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113857382	113857382	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113857382G>A	uc010rxb.2	+	6	1099	c.866G>A	c.(865-867)gGc>gAc	p.G289D	HTR3A_uc010rxa.2_Missense_Mutation_p.G289D|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.G268D	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	283					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCCTCCTGGGCTACTCGGTC	0.577000														204			18		0	0	1	0	0
TMEM86A	144110	broad.mit.edu	37	11	18723381	18723381	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18723381C>T	uc001moz.1	+	2	631	c.548C>T	c.(547-549)gCa>gTa	p.A183V		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	183						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGCAGTGGTGCACTCTTCTTT	0.582000														179			25		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7584800	7584800	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7584800G>T	uc003mxp.1	+	23	7584	c.7305G>T	c.(7303-7305)aaG>aaT	p.K2435N	DSP_uc003mxq.1_Missense_Mutation_p.K1836N|DSP_uc021yle.1_Missense_Mutation_p.K1992N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2435	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)		GATGCATTAAGGATGAGGAAA	0.413000														128			23		1.1804e-14	1.38988e-14	1	1	0
SBNO2	22904	broad.mit.edu	37	19	1109688	1109688	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1109688G>T	uc002lrk.4	-	26	3355	c.3117C>A	c.(3115-3117)ttC>ttA	p.F1039L	SBNO2_uc002lrj.4_Missense_Mutation_p.F982L|SBNO2_uc010dse.3_Missense_Mutation_p.F1022L	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	1039					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCTTGTAGAAGACCACCT	0.682000														88			8		0.00307968	0.00313564	1	1	0
MITD1	129531	broad.mit.edu	37	2	99786049	99786049	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99786049C>A	uc002szs.1	-	5	666	c.618G>T	c.(616-618)aaG>aaT	p.K206N	MRPL30_uc002szl.1_Intron|MRPL30_uc002szr.3_Intron	NM_138798	NP_620153	Q8WV92	MITD1_HUMAN	Homo sapiens MIT, microtubule interacting and transport, domain containing 1 (MITD1), mRNA.	206					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						CCCTTCCAATCTTAATCATCC	0.289000														106			27		1.26454e-06	1.34912e-06	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248202496	248202496	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248202496A>G	uc001idw.3	+	0	1023	c.927A>G	c.(925-927)tcA>tcG	p.S309S	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAATCTTCTCAGTGAAAATGT	0.438000														152			24		0	0	1	0	0
INCA1	388324	broad.mit.edu	37	17	4893489	4893489	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4893489C>T	uc002gak.3	-	3	396	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CAMTA2_uc010cku.2_5'Flank|CAMTA2_uc002gag.2_5'Flank|CAMTA2_uc002gah.2_5'Flank|CAMTA2_uc002gai.2_5'Flank|CAMTA2_uc010vsu.2_5'Flank|INCA1_uc002gam.3_Missense_Mutation_p.R39H|INCA1_uc002gaj.3_Missense_Mutation_p.R39H|INCA1_uc002gal.3_Missense_Mutation_p.R39H	NM_001167987	NP_001161459	Q0VD86	INCA1_HUMAN	Homo sapiens inhibitor of CDK, cyclin A1 interacting protein 1 (INCA1), transcript variant 2, mRNA.	39						nucleus				upper_aerodigestive_tract(1)	1						ATCTCCATAACGCTGGGGCAT	0.527000														96			20		0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406685	3406685	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3406685T>C	uc002cuw.1	+	0	797	c.745T>C	c.(745-747)Ttc>Ctc	p.F249L		NM_012368	NP_036500	O95371	OR2C1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 1 (OR2C1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCTGGTGGTGTTCCTCTTCTA	0.542000														140			45		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49420396	49420396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49420396G>A	uc001rta.4	-	47	15353	c.15353C>T	c.(15352-15354)gCc>gTc	p.A5118V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5118					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.Q5117*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGCACGGATGGCACAAGCAAA	0.542000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				111			30		0	0	1	0	0
KIF24	347240	broad.mit.edu	37	9	34263156	34263156	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:34263156G>A	uc003zua.4	-	8	1578	c.1458C>T	c.(1456-1458)atC>atT	p.I486I	KIF24_uc010mkb.3_Silent_p.I517I	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	486					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGTGCTCGGATACATTCCT	0.458000														30			8		0	0	1	0	0
C1orf159	54991	broad.mit.edu	37	1	1021354	1021354	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1021354A>G	uc001act.2	-	8	943	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L	C1orf159_uc001acu.2_Missense_Mutation_p.F117L|C1orf159_uc001acr.2_Non-coding_Transcript|C1orf159_uc001acs.2_Non-coding_Transcript|C1orf159_uc010nyd.1_Non-coding_Transcript|C1orf159_uc001acn.2_Missense_Mutation_p.F117L	NM_017891	NP_060361	Q96HA4	CA159_HUMAN	Homo sapiens chromosome 1 open reading frame 159 (C1orf159), mRNA.	153						integral to membrane						all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.96e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.77e-22)|Colorectal(212;6.51e-05)|COAD - Colon adenocarcinoma(227;0.000214)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTAATGAAGAACGTGCCCAGG	0.627000														78			9		0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123661906	123661906	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:123661906C>A	uc001lfp.3	-	6	895	c.813_splice	c.e6+1	p.E271_splice	ATE1_uc001lfq.3_Splice_Site_p.E271_splice|ATE1_uc010qtr.2_Splice_Site_p.E156_splice|ATE1_uc010qts.2_Splice_Site_p.E175_splice|ATE1_uc010qtt.2_Splice_Site_p.E264_splice|ATE1_uc001lfr.3_Intron|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	271					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCAAAGTACCTCTAACTTGT	0.323000														81			20		1.15919e-05	1.21889e-05	1	1	0
FAM151B	167555	broad.mit.edu	37	5	79837528	79837528	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79837528C>A	uc003kgv.2	+	5	851	c.708C>A	c.(706-708)aaC>aaA	p.N236K	FAM151B_uc010jal.2_Non-coding_Transcript	NM_205548	NP_991111	Q6UXP7	F151B_HUMAN	Homo sapiens family with sequence similarity 151, member B (FAM151B), mRNA.	236										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		AAAATGATAACTATTCCGTTG	0.323000														34			14		0.000219431	0.000226893	1	1	0
CHIT1	1118	broad.mit.edu	37	1	203192720	203192720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:203192720C>T	uc001gzn.2	-	4	479	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIT1_uc001gzm.1_Non-coding_Transcript|CHIT1_uc009xal.1_5'Flank|CHIT1_uc009xam.1_Non-coding_Transcript|CHIT1_uc009xan.1_Non-coding_Transcript|CHIT1_uc001gzo.2_Missense_Mutation_p.R119H	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	Homo sapiens chitinase 1 (chitotriosidase) (CHIT1), transcript variant 1, mRNA.	128					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GCTGTATTTGCGCAGAAACCT	0.567000														258			65		0	0	1	0	0
NOL8	55035	broad.mit.edu	37	9	95078044	95078044	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95078044A>G	uc022bjx.1	-	6	1200	c.863T>C	c.(862-864)tTg>tCg	p.L288S	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.L220S	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	288					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GGCAGTTTCCAAGCCAGAAGT	0.353000														34			4		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71851087	71851087	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71851087C>A	uc004ahe.3	+	12	2242	c.1924C>A	c.(1924-1926)Ctg>Atg	p.L642M	TJP2_uc011lrs.2_Missense_Mutation_p.L619M|TJP2_uc011lrt.1_Missense_Mutation_p.L619M|TJP2_uc004ahd.3_Missense_Mutation_p.L642M|TJP2_uc004ahf.3_Missense_Mutation_p.L642M|TJP2_uc011lru.2_Missense_Mutation_p.L646M|TJP2_uc011lrv.2_Missense_Mutation_p.L673M	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	642	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						TGACGGCAAGCTGGGCAACTG	0.507000														126			26		4.87955e-14	5.71551e-14	1	1	0
TMED10	10972	broad.mit.edu	37	14	75643079	75643079	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75643079G>A	uc001xrm.1	-	0	271	c.204C>T	c.(202-204)ggC>ggT	p.G68G	TMED10_uc010ash.1_Non-coding_Transcript	NM_006827	NP_006818	P49755	TMEDA_HUMAN	Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) (TMED10), mRNA.	68	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	ER-Golgi intermediate compartment|Golgi membrane|cis-Golgi network|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		TGCGCAGGCCGCCAGCGCCCC	0.662000														187			57		0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77289223	77289223	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:77289223G>T	uc004ecx.4	+	16	3575	c.3415G>T	c.(3415-3417)Gac>Tac	p.D1139Y		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1139					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GAATATAGAGGACAATAATAT	0.388000														81			33		3.99451e-17	4.78557e-17	1	1	0
TPO	7173	broad.mit.edu	37	2	1457548	1457548	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1457548C>T	uc002qwr.3	+	5	651	c.565C>T	c.(565-567)Cga>Tga	p.R189*	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Nonsense_Mutation_p.R189*|TPO_uc002qwx.3_Nonsense_Mutation_p.R189*|TPO_uc002qwu.3_Nonsense_Mutation_p.R189*|TPO_uc010yio.2_Nonsense_Mutation_p.R189*|TPO_uc010yip.2_Nonsense_Mutation_p.R189*	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	189					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CAGTCAGCCCCGAGGCTGGAA	0.602000														167			47		0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722815	64722815	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722815C>T	uc010nko.3	+	4	2304	c.2237C>T	c.(2236-2238)cCc>cTc	p.P746L		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	735							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTCCTATCCCTTGAGTAAC	0.557000														66			24		0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150276091	150276091	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150276091C>A	uc021yfx.1	-	6	1186	c.758G>T	c.(757-759)gGa>gTa	p.G253V	ZNF300_uc021yfy.1_Missense_Mutation_p.G237V|ZNF300_uc021yfz.1_Missense_Mutation_p.G201V	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	237				T -> I (in Ref. 7; CAI46270).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTATTACTCCATTGTGAAT	0.343000														129			20		4.96729e-08	5.40616e-08	1	1	0
ABCD3	5825	broad.mit.edu	37	1	94955289	94955289	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94955289C>A	uc010oto.2	+	14	1340	c.1238C>A	c.(1237-1239)gCt>gAt	p.A413D	ABCD3_uc001dqn.4_Missense_Mutation_p.A389D|ABCD3_uc010otp.2_Missense_Mutation_p.A316D|ABCD3_uc009wdr.3_Missense_Mutation_p.A279D|ABCD3_uc001dqo.4_Missense_Mutation_p.A77D	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	389					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AGTTTTACTGCTCGGATTACA	0.313000														24			9		0.000274275	0.000282808	1	1	0
MAP7	9053	broad.mit.edu	37	6	136704889	136704889	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136704889T>C	uc011edg.2	-	5	872	c.623A>G	c.(622-624)aAt>aGt	p.N208S	MAP7_uc011edf.2_Missense_Mutation_p.N171S|MAP7_uc010kgu.3_Missense_Mutation_p.N208S|MAP7_uc011edh.2_Intron|MAP7_uc010kgv.3_Missense_Mutation_p.N208S|MAP7_uc010kgs.3_Missense_Mutation_p.N40S|MAP7_uc011edi.2_Missense_Mutation_p.N40S|MAP7_uc010kgq.2_Missense_Mutation_p.N92S|MAP7_uc003qgz.3_Missense_Mutation_p.N186S|MAP7_uc003qha.2_Intron|MAP7_uc010kgr.2_Missense_Mutation_p.N40S|MAP7_uc010kgt.2_Missense_Mutation_p.N208S	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	186					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TTTCGAAAGATTCATGGTGGA	0.413000														71			21		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40584302	40584302	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40584302G>T	uc001zld.3	-	22	2790	c.2489C>A	c.(2488-2490)tCt>tAt	p.S830Y	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.S826Y|PLCB2_uc010ucm.2_Missense_Mutation_p.S830Y	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	830					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGCTTCACAGACTTCGTGTC	0.542000														152			36		4.14481e-20	5.0508e-20	1	1	0
TMEM206	55248	broad.mit.edu	37	1	212548540	212548540	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:212548540G>A	uc010pte.2	-	7	1237	c.1069C>T	c.(1069-1071)Caa>Taa	p.Q357*	TMEM206_uc001hjc.4_Nonsense_Mutation_p.Q296*	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	296						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		CTCACATCTTGGACTTTCTGG	0.313000														97			18		0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86310237	86310237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86310237C>T	uc002sqs.3	-	6	1164	c.785G>A	c.(784-786)cGc>cAc	p.R262H		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	262					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AAGGTGTTCGCGGGCACTGGT	0.453000														69			19		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17661976	17661976	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:17661976C>A	uc003ncd.1	-	10	1503	c.1303G>T	c.(1303-1305)Gcc>Tcc	p.A435S	NUP153_uc011dje.1_Missense_Mutation_p.A435S|NUP153_uc010jpl.1_Missense_Mutation_p.A435S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	435					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AAACCATTGGCTGCAGGCAAA	0.398000														158			28		6.38683e-12	7.32513e-12	1	1	0
RNF169	254225	broad.mit.edu	37	11	74545772	74545772	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:74545772G>T	uc001ovl.4	+	4	907	c.894G>T	c.(892-894)caG>caT	p.Q298H	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	298							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						ACACAGCCCAGGAAAGAGCGA	0.478000														72			7		0.000274275	0.000282808	1	1	0
FAT3	120114	broad.mit.edu	37	11	92534060	92534060	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92534060C>T	uc001pdj.4	+	8	7898	c.7881C>T	c.(7879-7881)ccC>ccT	p.P2627P		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2627	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATAGATCCCGATGATGGAG	0.498000										TCGA Ovarian(4;0.039)				39			5		0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72425041	72425041	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:72425041G>A	uc009zrw.1	+	9	1309	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	TPH2_uc001swy.2_Missense_Mutation_p.A300T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	390					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TTTGCAGCACGCCCTTTCTGA	0.423000														119			17		0	0	1	0	0
UGCG	7357	broad.mit.edu	37	9	114693625	114693625	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:114693625C>T	uc004bft.3	+	6	1102	c.812C>T	c.(811-813)tCc>tTc	p.S271F	MIR4668_uc022blz.1_5'Flank	NM_003358	NP_003349	Q16739	CEGT_HUMAN	Homo sapiens UDP-glucose ceramide glucosyltransferase (UGCG), mRNA.	271					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGTTTCAATCCAGAATGATC	0.338000														37			9		0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176638654	176638654	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176638654C>A	uc003mfr.4	+	4	3392	c.3254C>A	c.(3253-3255)cCt>cAt	p.P1085H	NSD1_uc003mft.4_Missense_Mutation_p.P816H|NSD1_uc003mfs.1_Missense_Mutation_p.P982H|NSD1_uc011dfx.2_Missense_Mutation_p.P733H	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1085					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCAGAAGATCCTAGTAAAGAG	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				140			56		2.43277e-16	2.90144e-16	1	1	0
IQUB	154865	broad.mit.edu	37	7	123152119	123152119	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:123152119C>T	uc003vkn.3	-	1	853	c.276G>A	c.(274-276)ccG>ccA	p.P92P	IQUB_uc003vko.3_Silent_p.P92P|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Silent_p.P92P|IQUB_uc003vkq.2_Silent_p.P92P	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	92										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						CATGATGTTGCGGAGTATATG	0.388000														124			27		0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176813105	176813105	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176813105C>T	uc003mgk.4	+	2	331	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SLC34A1_uc021yis.1_Missense_Mutation_p.A76V	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	76					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.P75L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACTGCCTGCCAAGCTGGCC	0.687000														105			41		0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	95013650	95013650	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:95013650C>T	uc002btj.3	+	19	2514	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	MCTP2_uc010boj.3_Missense_Mutation_p.R546W|MCTP2_uc010bok.3_Missense_Mutation_p.R762W|MCTP2_uc002btl.3_Missense_Mutation_p.R405W	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	817					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CATTCCACTGCGGTACATCAT	0.408000														141			20		0	0	1	0	0
ZNF268	10795	broad.mit.edu	37	12	133780923	133780923	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:133780923G>T	uc010tch.2	+	5	2857	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	ZNF268_uc010tcd.1_Intron|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.R884I|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.R801I	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	884						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTACATCAAAGAACTCATTCA	0.408000														12			3		6.4e-05	6.6609e-05	1	1	0
ASPHD2	57168	broad.mit.edu	37	22	26830336	26830336	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26830336G>A	uc003acg.2	+	1	1152	c.755G>A	c.(754-756)cGc>cAc	p.R252H		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	252					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CGGACGTACCGCTTGCTCGGA	0.537000														209			55		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517963	138517963	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138517963T>C	uc010nbd.1	-	3	463	c.209A>G	c.(208-210)tAc>tGc	p.Y70C		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	70					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCGCCTTCTGTAATGTTTTTC	0.498000														138			22		0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5430201	5430201	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5430201C>T	uc003soi.4	-	3	751	c.402G>A	c.(400-402)gaG>gaA	p.E134E	TNRC18_uc010ksx.1_Silent_p.E60E|TNRC18_uc003sok.1_Silent_p.E60E	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	134							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGCTGGGGGGCTCCAGGTGGT	0.607000														53			8		0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134322979	134322979	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:134322979G>A	uc010hty.3	-	10	1490	c.1428C>T	c.(1426-1428)agC>agT	p.S476S	KY_uc011blw.2_3'UTR|KY_uc011blx.2_Silent_p.S455S	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	476						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						AGCGCCCGTCGCTGGTGTGGA	0.632000														35			6		0	0	1	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90573238	90573238	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:90573238G>A	uc003pnr.3	+	6	2006	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.A604T|CASP8AP2_uc011dzz.2_Missense_Mutation_p.A604T	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	604					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TAAAACAGTGGCATATGTTCC	0.423000														14			3		0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3981965	3981965	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3981965T>C	uc002lze.3	-	5	960	c.877A>G	c.(877-879)Atc>Gtc	p.I293V		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	293						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGTCCAGGATCAGCTGGCAG	0.647000														319			62		0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104121533	104121533	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104121533A>G	uc001kux.2	+	13	1841	c.1547A>G	c.(1546-1548)gAg>gGg	p.E516G	GBF1_uc001kuy.2_Missense_Mutation_p.E516G|GBF1_uc001kuz.2_Missense_Mutation_p.E517G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	516					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGCCTTATGAGATGAAGGAG	0.473000														118			28		0	0	1	0	0
LPP	4026	broad.mit.edu	37	3	188590548	188590548	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:188590548C>T	uc003frs.2	+	9	1953	c.1707C>T	c.(1705-1707)tgC>tgT	p.C569C	LPP_uc011bsg.2_Silent_p.C422C|LPP_uc011bsi.2_Silent_p.C569C|LPP_uc011bsj.2_Silent_p.C406C	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	569	LIM zinc-binding 3.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GCTACCGATGCGAGGTCTGGT	0.522000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									71			19		0	0	1	0	0
TMED10	10972	broad.mit.edu	37	14	75618848	75618848	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75618848T>C	uc001xrm.1	-	2	293	c.226_splice	c.e2-1	p.I76_splice	TMED10_uc010ash.1_Splice_Site	NM_006827	NP_006818	P49755	TMEDA_HUMAN	Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) (TMED10), mRNA.	76	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	ER-Golgi intermediate compartment|Golgi membrane|cis-Golgi network|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		ATCTGTGATCTAAAATAAGAA	0.373000														45			7		0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68123756	68123756	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:68123756G>T	uc003xxo.2	-	33	5171	c.4781C>A	c.(4780-4782)gCt>gAt	p.A1594D	ARFGEF1_uc003xxl.1_Missense_Mutation_p.A1048D|ARFGEF1_uc003xxn.2_Missense_Mutation_p.A571D	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1594					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTCATTAACAGCAGACGCAGA	0.328000														60			7		0.0381472	0.038366	1	1	0
LCT	3938	broad.mit.edu	37	2	136569955	136569955	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136569955C>T	uc002tuu.1	-	6	2290	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	760	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.G760R(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTCACTTTCCCCTATGGGCAT	0.443000														209			19		0	0	1	0	0
SCRT2	85508	broad.mit.edu	37	20	644759	644759	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:644759G>A	uc002wec.3	-	1	1058	c.480C>T	c.(478-480)tgC>tgT	p.C160C	SRXN1_uc002web.3_Intron	NM_033129	NP_149120	Q9NQ03	SCRT2_HUMAN	Homo sapiens scratch homolog 2, zinc finger protein (Drosophila) (SCRT2), mRNA.	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						AGGTCTTGCCGCACTCGGCGC	0.791000														71			15		0	0	1	0	0
TUBGCP2	10844	broad.mit.edu	37	10	135095846	135095846	+	Splice_Site	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135095846T>G	uc010qvc.1	-	17	2731	c.2374_splice	c.e17-1	p.K792_splice	TUBGCP2_uc001lmf.1_Splice_Site_p.K357_splice|TUBGCP2_uc001lmg.1_Splice_Site_p.K764_splice|TUBGCP2_uc010qvd.1_Splice_Site_p.K634_splice|TUBGCP2_uc009ybk.1_Splice_Site_p.K787_splice|TUBGCP2_uc001lmh.1_Splice_Site	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	764					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TGTGTAAATTTCTAGGGGGGG	0.587000														68			13		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883865	4883865	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4883865G>T	uc010cku.2	-	8	1233	c.821C>A	c.(820-822)tCt>tAt	p.S274Y	CAMTA2_uc002gag.2_Missense_Mutation_p.S250Y|CAMTA2_uc002gah.2_Missense_Mutation_p.S251Y|CAMTA2_uc002gai.2_Missense_Mutation_p.S253Y|CAMTA2_uc010ckv.1_5'UTR|CAMTA2_uc010vsu.2_Missense_Mutation_p.S64Y	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	251					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACTTTGGGAGAGATGATGCG	0.587000											OREG0024111	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		191			45		2.13384e-23	2.64232e-23	1	1	0
ZNF264	9422	broad.mit.edu	37	19	57723439	57723439	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57723439G>A	uc002qob.3	+	3	1388	c.974G>A	c.(973-975)cGa>cAa	p.R325Q		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGTCTTTCGACATAGGCCA	0.493000														103			27		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23716316	23716316	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:23716316G>T	uc001rfw.3	-	10	1466	c.1364C>A	c.(1363-1365)gCt>gAt	p.A455D	SOX5_uc001rfx.3_Missense_Mutation_p.A442D|SOX5_uc001rfy.3_Intron|SOX5_uc001rfv.3_Missense_Mutation_p.A69D|SOX5_uc010siv.2_Missense_Mutation_p.A442D|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.A407D	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	455					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTGGTGACAGCATCATGGTC	0.428000														152			31		2.46105e-21	3.01812e-21	1	1	0
MICAL1	64780	broad.mit.edu	37	6	109775336	109775336	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109775336G>T	uc011eaq.2	-	1	412	c.121C>A	c.(121-123)Ctg>Atg	p.L41M	MICAL1_uc003ptj.3_Missense_Mutation_p.L22M|MICAL1_uc003ptk.3_Missense_Mutation_p.L22M|MICAL1_uc010kdr.3_Missense_Mutation_p.L22M	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	22					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCCTGGCACAGCTGGGCCTGC	0.652000														53			20		1.56452e-12	1.80666e-12	1	1	0
SUPV3L1	6832	broad.mit.edu	37	10	70946204	70946204	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70946204C>A	uc001jpe.1	+	2	410	c.355C>A	c.(355-357)Ctc>Atc	p.L119I	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	119					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TACAGCTCGTCTCTTCCACCA	0.363000														84			15		2.32078e-09	2.57599e-09	1	1	0
FGD4	121512	broad.mit.edu	37	12	32772647	32772647	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772647C>A	uc010ske.2	+	10	1774	c.1690C>A	c.(1690-1692)Ctg>Atg	p.L564M	FGD4_uc001rlc.3_Missense_Mutation_p.L537M|FGD4_uc001rky.3_Missense_Mutation_p.L204M|FGD4_uc001rkz.3_Missense_Mutation_p.L452M|FGD4_uc001rla.3_Missense_Mutation_p.L108M|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	452					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CAACATGTTGCTGTACTGTGT	0.393000														134			43		1.41504e-22	1.74518e-22	1	1	0
UBLCP1	134510	broad.mit.edu	37	5	158696032	158696032	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:158696032G>T	uc003lxq.2	+	1	435	c.109G>T	c.(109-111)Gga>Tga	p.G37*		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	37	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCTTACAGGAGTTCTTCC	0.383000														96			12		0.00136819	0.00139829	1	1	0
PNCK	139728	broad.mit.edu	37	X	152937358	152937358	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:152937358C>T	uc011myu.2	-	4	826	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	PNCK_uc011myt.2_Missense_Mutation_p.G148R|PNCK_uc004fhz.4_Missense_Mutation_p.G29R|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G158R|PNCK_uc011myw.2_Missense_Mutation_p.G158R	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	131	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCACGATCCCCAGGCTGTGC	0.662000														58			10		0	0	1	0	0
DHRS3	9249	broad.mit.edu	37	1	12638749	12638749	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12638749A>C	uc001auc.3	-	3	1162	c.695T>G	c.(694-696)gTc>gGc	p.V232G	DHRS3_uc001aub.3_Missense_Mutation_p.V147G	NM_004753	NP_004744	O75911	DHRS3_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 3 (DHRS3), mRNA.	232					retinol metabolic process|visual perception	integral to membrane	NADP-retinol dehydrogenase activity|electron carrier activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CACTGACCTGACTCTCATGCC	0.582000														120			6		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89345738	89345738	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89345738C>T	uc002fmx.1	-	8	7673	c.7212G>A	c.(7210-7212)acG>acA	p.T2404T	ANKRD11_uc002fmy.1_Silent_p.T2404T|ANKRD11_uc002fnc.1_Silent_p.T2404T|ANKRD11_uc002fna.1_Silent_p.T69T|ANKRD11_uc002fnb.1_Silent_p.T2361T	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	2404						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCGTCTGCTGCGTGGACGTGT	0.682000														82			9		0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137858	42137858	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42137858C>T	uc001zoo.4	+	19	2113	c.2073C>T	c.(2071-2073)taC>taT	p.Y691Y	JMJD7-PLA2G4B_uc010bcn.3_Silent_p.Y691Y|JMJD7-PLA2G4B_uc001zoq.4_Silent_p.Y161Y|JMJD7-PLA2G4B_uc010bco.3_Silent_p.Y460Y|JMJD7-PLA2G4B_uc001zor.1_Silent_p.Y161Y	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	460	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TCTCTCCCTACGAGGTCGGCT	0.612000														128			8		0	0	1	0	0
SPATA7	55812	broad.mit.edu	37	14	88904553	88904553	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:88904553C>T	uc001xwq.3	+	11	2008	c.1587C>T	c.(1585-1587)gaC>gaT	p.D529D	SPATA7_uc001xwr.3_Silent_p.D497D|SPATA7_uc001xws.3_Silent_p.D465D|SPATA7_uc001xwt.3_Silent_p.D423D|SPATA7_uc001xwu.3_Intron	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN	Homo sapiens spermatogenesis associated 7 (SPATA7), transcript variant 1, mRNA.	529					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GTATTTCAGACAGTTTAACAG	0.348000														94			18		0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39122912	39122912	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39122912C>T	uc002hvo.1	-	0	233	c.197G>A	c.(196-198)tGt>tAt	p.C66Y	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	66	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				GGGCTTGCGACAAAAGCGAGG	0.527000														356			21		0	0	1	0	0
C8orf86	389649	broad.mit.edu	37	8	38369971	38369971	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38369971G>A	uc003xlx.1	-	2	631	c.606C>T	c.(604-606)acC>acT	p.T202T		NM_207412	NP_997295	Q6ZUL3	CH086_HUMAN	Homo sapiens chromosome 8 open reading frame 86 (C8orf86), mRNA.	202										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						cccaccccagggtttctaatt	0.527000														127			28		0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21057190	21057190	+	Silent	SNP	C	T	T	rs56187215		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21057190C>T	uc002kui.4	+	10	1919	c.1302C>T	c.(1300-1302)caC>caT	p.H434H	RIOK3_uc010dls.3_Silent_p.H434H|RIOK3_uc010xas.2_Silent_p.H418H|RIOK3_uc010xat.2_Silent_p.H178H	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413000														144			33		0	0	1	0	0
CLASP1	23332	broad.mit.edu	37	2	122220119	122220119	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:122220119G>A	uc002tnc.3	-	9	1318	c.928C>T	c.(928-930)Cct>Tct	p.P310S	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.P310S|CLASP1_uc010yza.2_Missense_Mutation_p.P310S|CLASP1_uc021vnl.1_Missense_Mutation_p.P310S|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.P310S	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	310					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTACTACAGGTACATCATCA	0.313000														15			6		0	0	1	0	0
FASTKD2	22868	broad.mit.edu	37	2	207631704	207631704	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207631704G>T	uc002vbu.3	+	1	697	c.287G>T	c.(286-288)aGc>aTc	p.S96I	MDH1B_uc010ziw.2_5'Flank|MDH1B_uc002vbt.3_5'Flank|MDH1B_uc002vbs.3_5'Flank|MDH1B_uc010fui.3_5'Flank|MDH1B_uc021vvm.1_5'Flank|FASTKD2_uc002vbv.3_Missense_Mutation_p.S96I|FASTKD2_uc002vbx.3_Missense_Mutation_p.S96I|FASTKD2_uc002vbw.1_Missense_Mutation_p.S96I	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	96					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		AAGGGCATAAGCACTCTAACA	0.338000														47			4		0.00909568	0.00920877	1	1	0
ZNF671	79891	broad.mit.edu	37	19	58232204	58232204	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58232204C>T	uc002qpz.4	-	3	1349	c.1250G>A	c.(1249-1251)cGa>cAa	p.R417Q	ZNF551_uc002qpx.3_Intron|ZNF671_uc010eug.3_Missense_Mutation_p.R340Q|ZNF671_uc010yhf.2_Missense_Mutation_p.R319Q	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN	Homo sapiens zinc finger protein 671 (ZNF671), mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGTGAGTTCGTTGGTGCAG	0.488000														116			31		0	0	1	0	0
CEP120	153241	broad.mit.edu	37	5	122713160	122713160	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:122713160G>A	uc003ktk.3	-	16	2382	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C	CEP120_uc010jcz.2_Missense_Mutation_p.R730C|CEP120_uc011cwq.2_Missense_Mutation_p.R565C	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	756						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTGGCCCTACGGATAGAGTCC	0.428000														161			40		0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55836433	55836433	+	Silent	SNP	C	T	T	rs147545593		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55836433C>T	uc001xbx.2	-	9	1419	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	FBXO34_uc001xbv.3_Intron|ATG14_uc001xbw.2_Silent_p.A348A	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN	Homo sapiens ATG14 autophagy related 14 homolog (S. cerevisiae) (ATG14), mRNA.	461					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TGGGTGGGGACGCCTGGGTGC	0.577000														152			31		0	0	1	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060138	49060138	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49060138G>A	uc003cvq.3	+	2	778	c.274G>A	c.(274-276)Gga>Aga	p.G92R	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Missense_Mutation_p.G35R|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Missense_Mutation_p.G35R|NDUFAF3_uc003cvr.3_Missense_Mutation_p.G35R	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	92					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCACAGGTGGGATCCCACCA	0.562000														372			30		0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494321	160494321	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:160494321G>A	uc003qta.3	+	33	4915	c.4767G>A	c.(4765-4767)caG>caA	p.Q1589Q		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1589					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)		AGGTCCTGCAGCTGGTGTACA	0.577000														110			8		0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42285034	42285034	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42285034G>A	uc021sjp.1	-	12	1371	c.1371C>T	c.(1369-1371)cgC>cgT	p.R457R	PLA2G4E_uc010udc.2_5'UTR|PLA2G4E_uc001zov.2_Silent_p.R81R	NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	445	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CCTGGAATTTGCGGAGCTGGT	0.582000														119			25		0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486305	65486305	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:65486305G>A	uc011moz.2	+	20	3567	c.3430G>A	c.(3430-3432)Gaa>Aaa	p.E1144K	HEPH_uc004dwn.3_Missense_Mutation_p.E1092K|HEPH_uc004dwo.3_Missense_Mutation_p.E823K|HEPH_uc010nkr.3_Missense_Mutation_p.E901K|HEPH_uc011mpa.2_Missense_Mutation_p.E1093K	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1090					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.R1143R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGACATTGAAGAAGGCAATGT	0.463000														62			18		0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55365052	55365052	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:55365052C>T	uc002lgw.3	-	6	722	c.602G>A	c.(601-603)cGt>cAt	p.R201H	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	201					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTTTTCAGACGAATGACGTC	0.398000														56			14		0	0	1	0	0
CHRFAM7A	89832	broad.mit.edu	37	15	30659671	30659671	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:30659671C>T	uc001zdt.1	-	8	1236	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Missense_Mutation_p.V133M|CHRFAM7A_uc010azn.2_Missense_Mutation_p.V133M	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	224						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		TACTGCAGCACGATCACCGTC	0.637000														192			9		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4844705	4844705	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4844705G>A	uc002mbj.2	-	6	1112	c.935C>T	c.(934-936)cCc>cTc	p.P312L	PLIN3_uc002mbk.2_Missense_Mutation_p.P300L|PLIN3_uc002mbl.3_Missense_Mutation_p.P312L	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	312					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	CTCCTTCTCGGGGCCCTGGAG	0.597000														40			8		0	0	1	0	0
HNRNPUL1	11100	broad.mit.edu	37	19	41807498	41807498	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41807498C>T	uc002oqb.4	+	10	1865	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C	HNRNPUL1_uc002opz.4_Missense_Mutation_p.R426C|HNRNPUL1_uc002oqa.4_Missense_Mutation_p.R426C|HNRNPUL1_uc010ehm.3_Missense_Mutation_p.R526C|HNRNPUL1_uc002oqc.4_Missense_Mutation_p.R412C|HNRNPUL1_uc002oqe.4_Intron|HNRNPUL1_uc002oqd.4_Missense_Mutation_p.R426C|HNRNPUL1_uc010ehn.3_Missense_Mutation_p.R426C|HNRNPUL1_uc010xvy.2_Missense_Mutation_p.R426C|HNRNPUL1_uc010ehp.3_Missense_Mutation_p.R382C|HNRNPUL1_uc002oqf.4_5'Flank	NM_007040	NP_653333	Q9BUJ2	HNRL1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 1 (HNRNPUL1), transcript variant 1, mRNA.	526	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						AGGCTTCCAGCGCAAAGCTAT	0.458000														176			39		0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	102117166	102117166	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102117166G>A	uc011cen.1	-	1	841	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PPP3CA_uc003hvu.2_Silent_p.L56L|PPP3CA_uc010ilj.2_Silent_p.L56L|PPP3CA_uc003hvt.2_Silent_p.L43L|PPP3CA_uc003hvs.2_Intron|PPP3CA_uc010ilk.2_Silent_p.L56L	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, alpha isozyme (PPP3CA), transcript variant 1, mRNA.	56	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTCTCTTCCAGCCTTCCCTCC	0.423000														79			21		0	0	1	0	0
UBE3D	90025	broad.mit.edu	37	6	83754249	83754249	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:83754249G>T	uc003pjp.2	-	3	603	c.495C>A	c.(493-495)gaC>gaA	p.D165E	UBE3D_uc011dyx.1_Non-coding_Transcript|UBE3D_uc003pjr.3_Missense_Mutation_p.D133E	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2C binding protein (UBE2CBP), mRNA.	165						cytoplasm	ligase activity										AGAAGAAAGAGTCTCCAATAA	0.428000														173			44		9.9191e-30	1.24789e-29	1	1	0
PAX9	5083	broad.mit.edu	37	14	37132272	37132272	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:37132272C>T	uc001wty.4	+	2	901	c.175C>T	c.(175-177)Cga>Tga	p.R59*	PAX9_uc010amq.3_5'Flank	NM_006194	NP_006185	P55771	PAX9_HUMAN	Homo sapiens paired box 9 (PAX9), mRNA.	59	Paired.				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GATCCTGGCGCGATACAACGA	0.642000														148			21		0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108043568	108043568	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108043568G>A	uc001pjz.4	-	12	2245	c.2143C>T	c.(2143-2145)Cct>Tct	p.P715S	NPAT_uc010rvv.2_5'Flank|NPAT_uc001pka.3_Missense_Mutation_p.P510S	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	715					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGGGACTCAGGGTGAGAATCT	0.438000														89			15		0	0	1	0	0
KIF20B	9585	broad.mit.edu	37	10	91469201	91469201	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:91469201A>C	uc001kgs.1	+	3	406	c.334A>C	c.(334-336)Aaa>Caa	p.K112Q	KIF20B_uc001kgr.1_Missense_Mutation_p.K112Q	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	112	Kinesin-motor.				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GATGGCACAGAAATTCAGTTT	0.373000														122			33		0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154863025	154863025	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:154863025G>A	uc003wlu.1	+	0	480	c.416G>A	c.(415-417)cGc>cAc	p.R139H	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	139						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCCTGGACCGCTACTGGTCC	0.632000														94			25		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032070	197032070	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197032070G>A	uc001gtt.1	-	1	226	c.182C>T	c.(181-183)gCt>gTt	p.A61V		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	61	Sushi 1.				blood coagulation	extracellular region		p.L60V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGTATAACCAGCCAAGCAGAA	0.398000														220			29		0	0	1	0	0
COL4A6	1288	broad.mit.edu	37	X	107423784	107423784	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:107423784G>A	uc004enw.4	-	24	2198	c.2095C>T	c.(2095-2097)Cca>Tca	p.P699S	COL4A6_uc004env.4_Missense_Mutation_p.P698S|COL4A6_uc011msn.2_Missense_Mutation_p.P698S|COL4A6_uc010npk.3_Missense_Mutation_p.P698S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	699	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGACTCCCTGGCTCTCCTTTA	0.517000									Alport syndrome with Diffuse Leiomyomatosis					56			22		0	0	1	0	0
PPAPDC1B	84513	broad.mit.edu	37	8	38123804	38123804	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38123804C>T	uc003xlf.4	-	5	510	c.489G>A	c.(487-489)gcG>gcA	p.A163A	PPAPDC1B_uc003xle.4_Silent_p.A122A|PPAPDC1B_uc003xlg.4_Silent_p.A163A	NM_001102559	NP_001096029	Q8NEB5	PPC1B_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1B (PPAPDC1B), transcript variant 1, mRNA.	163					phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			GGTAGAAGGACGCAAAGGCCA	0.473000														32			4		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41561607	41561607	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41561607G>A	uc003xok.3	-	19	2331	c.2247C>T	c.(2245-2247)atC>atT	p.I749I	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.I57I|ANK1_uc003xoi.3_Silent_p.I749I|ANK1_uc003xoj.3_Silent_p.I749I|ANK1_uc003xol.3_Silent_p.I749I|ANK1_uc003xom.3_Silent_p.I782I	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	749	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGAGTCACGATGTCTGTGT	0.552000														160			32		0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827164	1827164	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1827164C>T	uc002cmu.3	-	6	1093	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	SPSB3_uc002cmt.3_Silent_p.A206A	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 3 (SPSB3), mRNA.	334					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GGGCGGAGGTCGCTGCCTGGG	0.677000														195			10		0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17988625	17988625	+	Silent	SNP	G	A	A	rs148887708		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17988625G>A	uc002nhr.4	+	5	1139	c.792G>A	c.(790-792)gcG>gcA	p.A264A		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	264					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TGAACCAGGCGCAGGTGCAGC	0.607000														188			45		0	0	1	0	0
LOC283914	283914	broad.mit.edu	37	16	34624243	34624243	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:34624243G>A	uc002edw.3	+	8		c.2089G>A			LOC283914_uc010vgc.1_Intron					Homo sapiens uncharacterized LOC283914 (LOC283914), non-coding RNA.																		GTCACATTTAGTTTGCAGCTG	0.393000														12			6		0	0	1	0	0
KIAA0845	0	broad.mit.edu	37	22	29886650	29886650	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:29886650T>A	uc003afp.3	+	1	1097	c.218T>A	c.(217-219)cTc>cAc	p.L73H	NEFH_uc003afo.3_Silent_p.P1007P					Homo sapiens mRNA for KIAA0845 protein, partial cds.																		ACAGCAAGCCTCCAGAGAAGG	0.517000														60			20		0	0	1	0	0
PGBD1	84547	broad.mit.edu	37	6	28269043	28269043	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28269043G>A	uc003nky.3	+	6	1832	c.1412G>A	c.(1411-1413)aGg>aAg	p.R471K	PGBD1_uc003nkz.3_Missense_Mutation_p.R471K	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398000														187			34		0	0	1	0	0
HSD11B1	3290	broad.mit.edu	37	1	209879197	209879197	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:209879197A>G	uc001hhj.3	+	2	262	c.130A>G	c.(130-132)Aaa>Gaa	p.K44E	HSD11B1_uc021pin.1_Missense_Mutation_p.K44E|HSD11B1_uc001hhk.3_Missense_Mutation_p.K44E	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	44					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	AGGGGCCAGCAAAGGGATCGG	0.507000														100			44		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28386587	28386587	+	Nonsense_Mutation	SNP	C	T	T	rs112900293		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28386587C>T	uc002het.3	+	13	2797	c.2605C>T	c.(2605-2607)Cga>Tga	p.R869*	EFCAB5_uc010wbj.2_Intron|EFCAB5_uc010wbk.2_Intron|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Intron|EFCAB5_uc010csf.3_Nonsense_Mutation_p.R748*	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	869	EF-hand.						calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTTCCAAGTCCGACAGAGGCT	0.418000														109			26		0	0	1	0	0
PPOX	5498	broad.mit.edu	37	1	161140296	161140296	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161140296G>A	uc001fyj.2	+	9	1375	c.1085G>A	c.(1084-1086)gGc>gAc	p.G362D	PPOX_uc001fyg.2_Missense_Mutation_p.G362D|PPOX_uc010pkg.1_Missense_Mutation_p.G200D|PPOX_uc001fyi.2_Missense_Mutation_p.G200D|PPOX_uc010pkh.1_Missense_Mutation_p.G107D	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	362					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGCCCCCCTGGCCTCAGAGTG	0.542000														106			44		0	0	1	0	0
RAB1B	81876	broad.mit.edu	37	11	66043577	66043577	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66043577C>T	uc001ohf.3	+	5	569	c.474C>T	c.(472-474)gtC>gtT	p.V158V	AK125412_uc001ohg.1_Intron|CNIH2_uc001ohi.1_5'Flank|CNIH2_uc009yrb.1_5'Flank	NM_030981	NP_112243	Q9H0U4	RAB1B_HUMAN	Homo sapiens RAB1B, member RAS oncogene family (RAB1B), mRNA.	158					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CCACCAATGTCGAGCAGGCGT	0.582000														58			9		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110294717	110294717	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110294717C>T	uc001dyr.2	-	14	1559	c.1334G>A	c.(1333-1335)aGc>aAc	p.S445N	EPS8L3_uc001dys.2_Missense_Mutation_p.S415N|EPS8L3_uc001dyq.2_Missense_Mutation_p.S446N|EPS8L3_uc009wfm.2_Missense_Mutation_p.S382N|EPS8L3_uc009wfn.2_Missense_Mutation_p.S390N	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	445						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGGTTTGGGGCTGGAGGGCCT	0.577000														312			73		0	0	1	0	0
ZNF625	90589	broad.mit.edu	37	19	12256281	12256281	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12256281T>C	uc010dyo.2	-	3	1123	c.950A>G	c.(949-951)cAc>cGc	p.H317R	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.H251R|ZNF625_uc021upn.1_Missense_Mutation_p.H251R	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TGTTCGAAGGTGCGAGGCAGA	0.433000														171			35		0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21553685	21553685	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21553685C>T	uc001bek.2	-	15	1891	c.1816G>A	c.(1816-1818)Ggc>Agc	p.G606S	ECE1_uc001bem.2_Missense_Mutation_p.G590S|ECE1_uc001bej.2_Missense_Mutation_p.G594S|ECE1_uc001bei.2_Missense_Mutation_p.G603S|ECE1_uc010odl.1_Missense_Mutation_p.G606S	NM_001397	NP_001388	P42892	ECE1_HUMAN	Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA.	606					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTCATGGCCCACGACGACA	0.507000														120			6		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18840938	18840938	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:18840938C>T	uc002dfm.3	-	53	9636	c.9273G>A	c.(9271-9273)agG>agA	p.R3091R	SMG1_uc010bwb.3_Silent_p.R2951R|SMG1_uc010bwa.3_Silent_p.R1822R	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3091					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TCAAGAGCTGCCTCACAAAGT	0.458000														60			13		0	0	1	0	0
TRMT61B	55006	broad.mit.edu	37	2	29092664	29092664	+	Missense_Mutation	SNP	C	A	A	rs140115429		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:29092664C>A	uc002rmm.3	-	0	512	c.480G>T	c.(478-480)gaG>gaT	p.E160D		NM_017910	NP_060380	Q9BVS5	TR61B_HUMAN	Homo sapiens tRNA methyltransferase 61 homolog B (S. cerevisiae) (TRMT61B), mRNA.	160							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						CCTCCCCAGTCTCAGCTAAAA	0.498000														105			23		1.22574e-08	1.34739e-08	1	1	0
GBX1	2636	broad.mit.edu	37	7	150864194	150864194	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150864194G>A	uc011kvg.2	-	0	674	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	148	Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAGCTTCCAGCCCACCCTCT	0.701000														92			20		0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101659757	101659757	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101659757T>C	uc001kqj.2	-	6	2713	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	DNMBP_uc010qpl.1_5'Flank|DNMBP_uc001kqg.2_Missense_Mutation_p.D162G|DNMBP_uc001kqh.2_Missense_Mutation_p.D506G	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	874	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding	p.H873N(1)		central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AATGGCCTCATCATGATTCTG	0.443000														152			33		0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65394998	65394998	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65394998G>A	uc001oey.2	+	21	3647	c.3647G>A	c.(3646-3648)cGc>cAc	p.R1216H	PCNXL3_uc001oez.2_Missense_Mutation_p.R103H	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1216						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GACTACCCGCGCCTCTCCCAG	0.612000														320			70		0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049123	58049123	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58049123G>T	uc002qpb.2	+	3	1000	c.751G>T	c.(751-753)Gaa>Taa	p.E251*	ZNF549_uc002qpa.2_Nonsense_Mutation_p.E238*	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAAGCGTAGGGAATATGGGAA	0.368000														142			22		1.40151e-16	1.67335e-16	1	1	0
SNX31	169166	broad.mit.edu	37	8	101608911	101608911	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:101608911C>T	uc003yjr.3	-	9	1085	c.934G>A	c.(934-936)Gtt>Att	p.V312I	SNX31_uc011lha.2_Missense_Mutation_p.V107I|SNX31_uc011lhb.2_Missense_Mutation_p.V213I	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	312					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			ATCTGGAAAACGATGTCCTGG	0.502000														176			15		0	0	1	0	0
NCAPH	23397	broad.mit.edu	37	2	97007618	97007618	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97007618C>T	uc002svz.1	+	1	342	c.258C>T	c.(256-258)gcC>gcT	p.A86A	NCAPH_uc010fhu.1_Silent_p.A62A|NCAPH_uc010fhv.1_Silent_p.A75A|NCAPH_uc010yum.1_Silent_p.A62A|NCAPH_uc010yun.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	86					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				GCTTATTGGCCTCCCCCTCCA	0.572000														185			43		0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140056961	140056961	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140056961G>A	uc003lgv.3	-	7	856	c.774C>T	c.(772-774)ggC>ggT	p.G258G	HARS_uc003lgu.3_Silent_p.G189G|HARS_uc011czm.2_Silent_p.G218G|HARS_uc003lgw.3_Silent_p.G238G|HARS_uc011czn.2_Silent_p.G198G|HARS_uc011czo.2_Silent_p.G184G|HARS_uc011czp.2_Silent_p.G144G|HARS_uc011czq.2_Silent_p.G148G	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	258					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CAGGTGCAAGGCCCTTCTCTC	0.602000														188			30		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89371699	89371699	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89371699G>A	uc002fmx.1	-	3	602	c.141C>T	c.(139-141)ggC>ggT	p.G47G	ANKRD11_uc002fmy.1_Silent_p.G47G|ANKRD11_uc002fnc.1_Silent_p.G47G|ANKRD11_uc002fnd.3_5'UTR|ANKRD11_uc002fne.3_5'UTR|ANKRD11_uc002fng.1_Silent_p.G47G|ANKRD11_uc002fnf.1_Silent_p.G47G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	47						nucleus		p.G47G(2)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTTCCCGCCATCGCCAC	0.557000														147			51		0	0	1	0	0
ENTPD4	9583	broad.mit.edu	37	8	23305394	23305394	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:23305394G>T	uc003xdl.3	-	3	483	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	ENTPD4_uc011kzu.1_Missense_Mutation_p.L71M|ENTPD4_uc003xdm.3_Missense_Mutation_p.L71M|ENTPD4_uc011kzv.1_Missense_Mutation_p.L71M|ENTPD4_uc011kzw.1_Missense_Mutation_p.L37M	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 4 (ENTPD4), transcript variant 1, mRNA.	71					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		ACTCGTGCCAGGTACCTTGTA	0.418000														125			15		6.31663e-08	6.86475e-08	1	1	0
TTN	7273	broad.mit.edu	37	2	179589098	179589098	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179589098T>C	uc021vsy.1	-	68	17497	c.17272A>G	c.(17272-17274)Atc>Gtc	p.I5758V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I2419V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6685	Ig-like 38.						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)			AAGGAAGAGATTTTGTTGTAG	0.443000														88			21		0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92609433	92609433	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92609433A>G	uc001yah.2	+	8	1203	c.935A>G	c.(934-936)cAt>cGt	p.H312R		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	312					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TCTTTATGTCATGGTCTTTCT	0.428000														80			10		0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130871281	130871281	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130871281G>A	uc003eny.3	+	7	1023	c.697G>A	c.(697-699)Gct>Act	p.A233T	NEK11_uc003enx.3_Missense_Mutation_p.A233T|NEK11_uc003eoa.3_Missense_Mutation_p.A233T|NEK11_uc003enz.3_Missense_Mutation_p.A51T|NEK11_uc011blk.2_Missense_Mutation_p.A85T|NEK11_uc011bll.2_Intron|NEK11_uc011blm.2_Missense_Mutation_p.A233T|NEK11_uc010hto.2_Missense_Mutation_p.A85T	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	233	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	p.A233P(2)|p.F232F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TCATGCATTCGCTGGCTCCAA	0.358000														90			23		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10532037	10532037	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10532037G>A	uc002czw.3	+	3	1199	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R347H|ATF7IP2_uc002czv.3_Missense_Mutation_p.R347H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TTGAACCAACGCATTGGGAAG	0.333000														119			21		0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64489508	64489508	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:64489508A>G	uc001xgl.3	+	37	5794	c.5564A>G	c.(5563-5565)aAa>aGa	p.K1855R	SYNE2_uc001xgm.3_Missense_Mutation_p.K1855R|SYNE2_uc021ruh.1_Missense_Mutation_p.K1855R	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	1855					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGCAACATTAAAGTGAACCTT	0.318000														34			4		0	0	1	0	0
C3orf39	84892	broad.mit.edu	37	3	43121639	43121639	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43121639G>A	uc003cmr.1	-	1	1628	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	C3orf39_uc003cmq.1_Missense_Mutation_p.R429C|C3orf39_uc021wwn.1_Missense_Mutation_p.R429C	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN	Homo sapiens chromosome 3 open reading frame 39 (C3orf39), mRNA.	429						extracellular region	transferase activity, transferring glycosyl groups			cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)		GGGACCTCACGGCTTTGCAGG	0.602000														100			21		0	0	1	0	0
PRIMA1	145270	broad.mit.edu	37	14	94187802	94187802	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94187802G>A	uc001ybw.1	-	4	492	c.450C>T	c.(448-450)aaC>aaT	p.N150N	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	150					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		ACACCACTGCGTTGTTCACGT	0.557000														63			22		0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64972252	64972252	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64972252G>A	uc009yqd.2	+	10	1461	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	CAPN1_uc001odf.2_Missense_Mutation_p.A422T|CAPN1_uc001odg.2_Missense_Mutation_p.A422T|CAPN1_uc010roa.2_Missense_Mutation_p.A163T	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	422	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CTTCGTGCTCGCCCTTATGCA	0.637000											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		154			39		0	0	1	0	0
H2AFZ	3015	broad.mit.edu	37	4	100870869	100870869	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100870869C>T	uc003hvo.1	-	1	217	c.32G>A	c.(31-33)gGa>gAa	p.G11E	DNAJB14_uc003hvl.3_5'Flank|DNAJB14_uc010ili.3_5'Flank|DNAJB14_uc003hvm.3_5'Flank|H2AFZ_uc003hvn.1_Missense_Mutation_p.G11E|LOC256880_uc003hvp.1_5'Flank	NM_002106	NP_002097	P0C0S5	H2AZ_HUMAN	Homo sapiens H2A histone family, member Z (H2AFZ), mRNA.	11	Required for interaction with INCENP (By similarity).				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(3)|lung(1)	5				OV - Ovarian serous cystadenocarcinoma(123;2.32e-08)		CTTGGCCTTTCCGGAGTCCTT	0.587000														253			52		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63084884	63084884	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63084884C>A	uc002alb.4	+	42	5781	c.5781C>A	c.(5779-5781)ggC>ggA	p.G1927G	TLN2_uc002alc.4_Silent_p.G320G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1927					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.H1926H(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGCCACGGCTGTATCTTCC	0.612000														90			28		1.32181e-22	1.63094e-22	1	1	0
CYP26B1	56603	broad.mit.edu	37	2	72371142	72371142	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:72371142G>A	uc002sih.1	-	1	405	c.405C>T	c.(403-405)ggC>ggT	p.G135G	CYP26B1_uc010yra.1_Silent_p.G118G|CYP26B1_uc010yrb.1_Intron	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	135					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGGATGTCGCCAATGGAAT	0.622000														192			11		0	0	1	0	0
FAM71D	161142	broad.mit.edu	37	14	67671472	67671472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:67671472T>C	uc001xja.2	+	4	868	c.578T>C	c.(577-579)aTt>aCt	p.I193T	FAM71D_uc010aqn.2_Non-coding_Transcript	NM_173526	NP_775797	Q8N9W8	FA71D_HUMAN	Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA.	193										breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		CTCTCAGGAATTACGAATAGC	0.502000														152			33		0	0	1	0	0
CASZ1	54897	broad.mit.edu	37	1	10714519	10714519	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:10714519C>T	uc001aro.3	-	9	2115	c.1795G>A	c.(1795-1797)Gac>Aac	p.D599N	CASZ1_uc001arp.1_Missense_Mutation_p.D599N|CASZ1_uc009vmx.2_Missense_Mutation_p.D623N	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AACTGGCAGTCGGCTGTGCCA	0.597000														172			25		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7441783	7441783	+	Missense_Mutation	SNP	G	A	A	rs140525588		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7441783G>A	uc001mfe.3	+	5	1621	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	462						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)		AGGCAACGAGGCTGAGAGGCT	0.468000														118			27		0	0	1	0	0
CAPN12	147968	broad.mit.edu	37	19	39233119	39233119	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39233119C>T	uc002ojd.1	-	2	666	c.357G>A	c.(355-357)cgG>cgA	p.R119R		NM_144691	NP_653292	Q6ZSI9	CAN12_HUMAN	Homo sapiens calpain 12 (CAPN12), mRNA.	119	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GGCGCAGGAGCCGGGGATACA	0.622000														71			7		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22315371	22315371	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22315371C>T	uc001wbz.1	+	1	534	c.309C>T	c.(307-309)agC>agT	p.S103S	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Non-coding_Transcript|TCRA_uc010ait.1_Silent_p.S84S					Homo sapiens mRNA for T cell receptor alpha variable 8, partial cds, clone: un 132.																		CCCATATGAGCGACGCGGCTG	0.512000														129			21		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75510920	75510920	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75510920C>A	uc001juw.3	+	3	407	c.227C>A	c.(226-228)gCt>gAt	p.A76D	SEC24C_uc010qkn.2_Intron|SEC24C_uc009xrj.2_Intron|SEC24C_uc001jux.3_Missense_Mutation_p.A76D|SEC24C_uc010qko.2_Intron|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	76					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					ACAGCACAGGCTCCTTGTGGC	0.517000														100			22		1.50039e-11	1.71053e-11	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10976731	10976731	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10976731T>G	uc003bvz.3	+	12	1626	c.1592T>G	c.(1591-1593)tTc>tGc	p.F531C		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	531					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		TTCATCTTCTTCTTGATCAAG	0.582000														228			49		0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957906	73957906	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:73957906T>G	uc003hgp.3	-	28	5556	c.5439A>C	c.(5437-5439)tcA>tcC	p.S1813S	ANKRD17_uc003hgo.3_Silent_p.S1700S|ANKRD17_uc003hgq.3_Silent_p.S1562S|ANKRD17_uc003hgr.3_Silent_p.S1812S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1813					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGAATTTGCTGAGGAGCTTT	0.378000														184			37		0	0	1	0	0
ZNF260	339324	broad.mit.edu	37	19	37005586	37005586	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37005586G>T	uc002oee.2	-	3	1477	c.555C>A	c.(553-555)atC>atA	p.I185I	ZNF260_uc010eey.2_Silent_p.I185I|ZNF260_uc002oef.2_Silent_p.I185I|ZNF260_uc002oed.2_Silent_p.I185I|ZNF260_uc021uti.1_Silent_p.I185I	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TTCCAGTATGGATGTTCTGAT	0.388000														240			12		5.50884e-06	5.8131e-06	1	1	0
BPHL	670	broad.mit.edu	37	6	3129401	3129401	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:3129401C>T	uc003mva.3	+	3	550	c.501C>T	c.(499-501)taC>taT	p.Y167Y	BPHL_uc003muz.3_Non-coding_Transcript|BPHL_uc011dht.2_Non-coding_Transcript|BPHL_uc003muy.3_Silent_p.Y150Y	NM_004332	NP_004323	Q86WA6	BPHL_HUMAN	Homo sapiens biphenyl hydrolase-like (serine hydrolase) (BPHL), transcript variant 1, mRNA.	167					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				CCAACGCCTACGTCACTGACG	0.537000														85			17		0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55524378	55524378	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:55524378C>T	uc010spe.2	+	0	826	c.826C>T	c.(826-828)Ctg>Ttg	p.L276L		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGAGTGTGCTGTATGGTGC	0.438000														169			45		0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81571983	81571983	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81571983C>T	uc021ssh.1	+	6	1050	c.949C>T	c.(949-951)Ctg>Ttg	p.L317L	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.L317L|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.L359L|IL16_uc021ssg.1_Silent_p.L317L|IL16_uc002bgg.3_Silent_p.L317L|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	317	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCTCCCCCACTGTGCCGCTC	0.607000														96			28		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78024044	78024044	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78024044C>A	uc010dht.3	+	6	1152	c.1121C>A	c.(1120-1122)aCc>aAc	p.T374N	CCDC40_uc010wub.2_Missense_Mutation_p.T374N|CCDC40_uc021uem.1_Missense_Mutation_p.T374N|CCDC40_uc002jxm.4_Missense_Mutation_p.T157N	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	374					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GCTCTCTACACCAAGACCTGC	0.657000														33			10		0.000673444	0.000690401	1	1	0
HR	55806	broad.mit.edu	37	8	21982906	21982906	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21982906C>T	uc003xas.3	-	4	2333	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K	HR_uc003xat.3_Silent_p.K556K	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	556							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TGAGCAGGTGCTTGGCGAGGC	0.687000														47			8		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20974849	20974849	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20974849C>A	uc010vbe.2	-	52	10357	c.10357G>T	c.(10357-10359)Gcc>Tcc	p.A3453S	DNAH3_uc010vbd.2_Missense_Mutation_p.A888S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3453					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGGGCCAGGCCGAGTCATAG	0.527000														88			27		8.24728e-16	9.79314e-16	1	1	0
YBX2	51087	broad.mit.edu	37	17	7195345	7195345	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7195345C>A	uc002gfq.2	-	3	426	c.369_splice	c.e3+1	p.Q123_splice		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	123	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TAGCTCTTACCTGGTGAACAA	0.517000														97			25		1.12875e-08	1.24115e-08	1	1	0
HBP1	26959	broad.mit.edu	37	7	106820368	106820368	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106820368G>A	uc003vdy.3	+	1	216	c.30G>A	c.(28-30)atG>atA	p.M10I	HBP1_uc011klv.2_Missense_Mutation_p.M20I|HBP1_uc003vdz.3_Missense_Mutation_p.M10I|HBP1_uc003vea.3_Missense_Mutation_p.M10I|HBP1_uc003veb.1_Missense_Mutation_p.M10I	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	10					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAAATCAGATGCCTAATGCAG	0.413000														146			11		0	0	1	0	0
RANGAP1	5905	broad.mit.edu	37	22	41645753	41645753	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41645753C>T	uc003azs.3	-	12	3022	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	RANGAP1_uc003azt.3_Missense_Mutation_p.V518M|RANGAP1_uc003azu.3_Missense_Mutation_p.V518M|RANGAP1_uc011aoz.2_Missense_Mutation_p.V463M	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	518					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	Ran GTPase activator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCATGTGCACGAGCAGCCTG	0.627000														103			21		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4202024	4202024	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4202024T>C	uc010dtt.1	+	6	620	c.344_splice	c.e6-1	p.G115_splice	ANKRD24_uc002lzs.2_Splice_Site_p.G86_splice|ANKRD24_uc002lzt.2_Splice_Site_p.G87_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	115										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		CTTCCCCAGGTTACAATGCCC	0.512000														145			13		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89350530	89350530	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89350530A>C	uc002fmx.1	-	8	2881	c.2420T>G	c.(2419-2421)gTt>gGt	p.V807G	ANKRD11_uc002fmy.1_Missense_Mutation_p.V807G|ANKRD11_uc002fnc.1_Missense_Mutation_p.V807G|ANKRD11_uc002fnb.1_Missense_Mutation_p.V764G	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	807	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCCCTATAAACCTTTTCTTT	0.313000														45			7		0	0	1	0	0
KIAA1958	158405	broad.mit.edu	37	9	115336390	115336390	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115336390G>T	uc011lwx.1	+	1	205	c.30G>T	c.(28-30)gaG>gaT	p.E10D	KIAA1958_uc004bgf.1_Missense_Mutation_p.E10D	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	10										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CCTCATCTGAGAATCTGTCCA	0.438000														95			24		6.32553e-13	7.33687e-13	1	1	0
CTNNB1	1499	broad.mit.edu	37	3	41275096	41275096	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41275096C>T	uc010hia.1	+	9	1418	c.1262C>T	c.(1261-1263)gCt>gTt	p.A421V	CTNNB1_uc003ckq.2_Missense_Mutation_p.A421V|CTNNB1_uc003ckp.2_Missense_Mutation_p.A421V|CTNNB1_uc003ckr.2_Missense_Mutation_p.A421V|CTNNB1_uc011azf.1_Missense_Mutation_p.A414V|CTNNB1_uc011azg.1_Missense_Mutation_p.A349V|CTNNB1_uc003cks.3_Missense_Mutation_p.A24V|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	421					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	ACCTGTGCAGCTGGAATTCTT	0.453000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					252			50		0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646167	228646167	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646167T>C	uc001hsz.3	+	0	360	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P	HIST3H2A_uc001hsy.3_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	Homo sapiens histone cluster 3, H2bb (HIST3H2BB), mRNA.	113					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				GCACGCCGTGTCCGAGGGCAC	0.637000														184			55		0	0	1	0	0
STARD4	134429	broad.mit.edu	37	5	110835647	110835647	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:110835647C>T	uc003kph.1	-	5	639	c.555G>A	c.(553-555)gcG>gcA	p.A185A	STARD4_uc010jbw.1_Silent_p.A87A|STARD4_uc010jbx.1_Silent_p.A87A|STARD4_uc003kpi.1_Non-coding_Transcript	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	185	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTGTATCTACCGCAGACTGAG	0.413000														110			23		0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10426620	10426620	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10426620G>T	uc002mny.1	-	0	72	c.53C>A	c.(52-54)gCt>gAt	p.A18D	FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	18					electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCCCCTGGCAGCCTGCAGTAG	0.667000														64			17		3.45872e-05	3.61362e-05	1	1	0
PRDM5	11107	broad.mit.edu	37	4	121702402	121702402	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:121702402A>G	uc003idn.3	-	11	1589	c.1339T>C	c.(1339-1341)Tta>Cta	p.L447L	PRDM5_uc003ido.3_Silent_p.L416L|PRDM5_uc010ine.3_Silent_p.L416L	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	447					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAACATTTAATGTATCCTTC	0.398000														83			13		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101747863	101747863	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:101747863T>C	uc004azb.1	+	2	323	c.117T>C	c.(115-117)ggT>ggC	p.G39G		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	39					angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTCCCAGGGTCACCTGGACC	0.557000														52			13		0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183390145	183390145	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:183390145A>G	uc003flv.3	+	6	1770	c.1475A>G	c.(1474-1476)aAa>aGa	p.K492R	KLHL24_uc003flw.3_Missense_Mutation_p.K492R|KLHL24_uc003flx.3_Missense_Mutation_p.K492R	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	Homo sapiens kelch-like 24 (Drosophila) (KLHL24), mRNA.	492						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CCAATTGCCAAAAGGTGTATA	0.363000														113			21		0	0	1	0	0
CRABP1	1381	broad.mit.edu	37	15	78640310	78640310	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78640310C>T	uc002bdp.2	+	3	510	c.405C>T	c.(403-405)gtC>gtT	p.V135V		NM_004378	NP_004369	P29762	RABP1_HUMAN	Homo sapiens cellular retinoic acid binding protein 1 (CRABP1), mRNA.	135					multicellular organismal development|signal transduction	cytoplasm	retinal binding|retinol binding|transporter activity			breast(1)|lung(4)|skin(1)	6					Alitretinoin(DB00523)|Etretinate(DB00926)	GAATTTATGTCCGAGAGTGAA	0.498000														133			26		0	0	1	0	0
HESX1	8820	broad.mit.edu	37	3	57232919	57232919	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57232919G>A	uc003din.4	-	1	553	c.219C>T	c.(217-219)agC>agT	p.S73S		NM_003865	NP_003856	Q9UBX0	HESX1_HUMAN	Homo sapiens HESX homeobox 1 (HESX1), mRNA.	73						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		GATCCACCACGCTAGGGAATG	0.393000														283			70		0	0	1	0	0
PRPF39	55015	broad.mit.edu	37	14	45571884	45571884	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45571884G>T	uc001wvz.4	+	4	892	c.722G>T	c.(721-723)aGt>aTt	p.S241I	PRPF39_uc001wvy.4_Missense_Mutation_p.S120I|PRPF39_uc010and.3_Missense_Mutation_p.S31I	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	241					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						CAGCTGTATAGTCATCATTTT	0.338000														185			40		1.22674e-20	1.49977e-20	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86916302	86916302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:86916302C>T	uc003hpk.3	+	8	1944	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	ARHGAP24_uc003hpl.3_Nonsense_Mutation_p.R404*|ARHGAP24_uc010ikf.3_Nonsense_Mutation_p.R414*|ARHGAP24_uc003hpm.3_Nonsense_Mutation_p.R406*	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	499					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	p.R406*(1)|p.R499*(1)		breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CACAAATGTTCGAAACATGAG	0.507000														145			35		0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35467703	35467703	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:35467703C>T	uc021wir.1	+	0	206	c.206C>T	c.(205-207)gCa>gTa	p.A69V	SLC5A3_uc002yto.3_Missense_Mutation_p.A69V|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	69						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTGGGCTGGCAGGATCTGGA	0.498000														175			8		0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983760	29983760	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:29983760G>T	uc011kaa.2	-	3	486	c.437C>A	c.(436-438)gCc>gAc	p.A146D	SCRN1_uc011jzy.2_Missense_Mutation_p.A58D|SCRN1_uc003tak.3_Missense_Mutation_p.A126D|SCRN1_uc011jzz.2_Missense_Mutation_p.A126D|SCRN1_uc011jzw.2_Missense_Mutation_p.A58D|SCRN1_uc010kvp.3_Missense_Mutation_p.A126D|SCRN1_uc011jzx.2_Intron	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	126					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GACATCTAAGGCTTCTTTAGC	0.423000														103			17		1.99824e-07	2.15697e-07	1	1	0
CEP76	79959	broad.mit.edu	37	18	12699159	12699159	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12699159C>T	uc002kri.3	-	3	495	c.339G>A	c.(337-339)ttG>ttA	p.L113L	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_Missense_Mutation_p.G101R	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	113					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTCCACCCAAAACCTGAA	0.363000														107			12		0	0	1	0	0
DRP2	1821	broad.mit.edu	37	X	100503249	100503249	+	Missense_Mutation	SNP	G	A	A	rs6621017		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:100503249G>A	uc004egz.2	+	12	1793	c.1424G>A	c.(1423-1425)aGc>aAc	p.S475N	DRP2_uc011mrh.1_Missense_Mutation_p.S397N	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	475					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTGGACATGAGCCTCAATTGG	0.488000														180			56		0	0	1	0	0
ACTR5	79913	broad.mit.edu	37	20	37394145	37394145	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:37394145C>T	uc002xjd.2	+	5	1302	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	426					DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				GTGGAGAAGCCGGTCACCACT	0.473000														156			28		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101520807	101520807	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:101520807C>T	uc003dvn.3	+	4	1459	c.822C>T	c.(820-822)acC>acT	p.T274T	FAM55C_uc010hpn.3_Silent_p.T274T	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	274						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						GTCTCCTAACCGCTGCAGAGA	0.468000														146			41		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175332862	175332862	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175332862A>C	uc001gkp.1	-	10	2770	c.2689T>G	c.(2689-2691)Tca>Gca	p.S897A	TNR_uc009wwu.1_Missense_Mutation_p.S897A	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	897	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTCGATATGATACTCGGTAG	0.438000														134			30		0	0	1	0	0
ATP1B3	483	broad.mit.edu	37	3	141644374	141644374	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:141644374T>C	uc003eug.1	+	7	844	c.670_splice	c.e7-1	p.V224_splice	ATP1B3_uc011bne.1_Splice_Site	NM_001679	NP_001670	P54709	AT1B3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 3 polypeptide (ATP1B3), mRNA.	224					ATP biosynthetic process|blood coagulation|leukocyte migration	melanosome|sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			cervix(1)|endometrium(1)|lung(2)	4						TATTGCCAGGTTGGGTATCTA	0.378000														165			29		0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24192159	24192159	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:24192159G>T	uc002dmd.3	+	12	1640	c.1443G>T	c.(1441-1443)aaG>aaT	p.K481N	PRKCB_uc002dme.3_Missense_Mutation_p.K481N	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	481	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	GACACATCAAGATTGCCGATT	0.453000														150			31		1.08312e-15	1.2841e-15	1	1	0
PAQR7	164091	broad.mit.edu	37	1	26189357	26189357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:26189357C>T	uc021ojm.1	-	0	974	c.974G>A	c.(973-975)aGc>aAc	p.S325N	PAQR7_uc001bkx.3_Missense_Mutation_p.S325N	NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	Homo sapiens progestin and adipoQ receptor family member VII (PAQR7), mRNA.	325					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGATGCTGCTGCCCACCGT	0.577000														135			33		0	0	1	0	0
ARRDC5	645432	broad.mit.edu	37	19	4896836	4896836	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4896836A>G	uc002mbm.3	-	1	348	c.348T>C	c.(346-348)ccT>ccC	p.P116P		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	116					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GAAGCCTGGGAGGTAAGTTGA	0.443000														135			31		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95735417	95735417	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:95735417T>A	uc001vmd.4	-	20	2782	c.2663A>T	c.(2662-2664)gAt>gTt	p.D888V	ABCC4_uc010afk.3_Missense_Mutation_p.D841V	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	888	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GCGCTTCACATCTCTTGACGT	0.443000														108			21		0	0	1	0	0
PLBD2	196463	broad.mit.edu	37	12	113824778	113824778	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:113824778G>A	uc001tve.2	+	9	1358	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	PLBD2_uc001tvf.2_Silent_p.Q409Q	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	441					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GTGGGCTGCAGGCCCTAGTGG	0.612000														185			10		0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14336699	14336699	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14336699A>G	uc003jff.3	+	10	1915	c.1909A>G	c.(1909-1911)Act>Gct	p.T637A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.T588A|TRIO_uc003jfh.1_Missense_Mutation_p.T286A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	637					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCTGGCTCAGACTGGGGAATG	0.483000														97			28		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117693744	117693744	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117693744T>C	uc001twn.2	-	16	3341	c.2630A>G	c.(2629-2631)cAc>cGc	p.H877R	NOS1_uc021ren.1_Intron|NOS1_uc021reo.1_Intron|NOS1_uc001twm.2_Intron	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACTCTACCTGTGCTGGCTGTC	0.582000														131			26		0	0	1	0	0
C12orf63	374467	broad.mit.edu	37	12	97147575	97147575	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:97147575A>C	uc021rcc.1	+	22	3092	c.3014A>C	c.(3013-3015)aAg>aCg	p.K1005T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1005										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GACCCCTCGAAGTGGTTACCT	0.423000														116			27		0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26809444	26809444	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:26809444G>A	uc001rhg.3	-	18	2647	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	744					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGATACTGGCGATCCAAGCAC	0.448000														96			11		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8168671	8168671	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8168671G>A	uc002gkr.3	+	18	2487	c.2346G>A	c.(2344-2346)gcG>gcA	p.A782A	PFAS_uc010vuv.2_Silent_p.A358A|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	782					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCTTTGGCGGATGCCTGTG	0.627000														214			46		0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512121	61512121	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61512121G>A	uc002ydr.2	-	15	5499	c.5187C>T	c.(5185-5187)ccC>ccT	p.P1729P	DIDO1_uc002yds.2_Silent_p.P1729P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1729	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGCCCTCGCCGGGTCTGGCCT	0.637000														279			69		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1258188	1258188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1258188G>A	uc001lta.3	+	24	3150	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	MUC5B_uc009yct.2_Missense_Mutation_p.D1031N	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1031	VWFD 3.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GAACTTCGACGACAATGCCAT	0.672000														34			11		0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52568529	52568529	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52568529C>T	uc010ydh.1	-	6	3066	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	ZNF841_uc002pyl.1_Missense_Mutation_p.R753Q	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	753					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGAATGAATTCGTTGGTGTTT	0.423000														38			6		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36897035	36897035	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36897035C>A	uc003cgj.3	-	11	4294	c.4046G>T	c.(4045-4047)aGc>aTc	p.S1349I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1349					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACTGAAGAGGCTGTAGATCTC	0.483000														182			36		2.09667e-21	2.57328e-21	1	1	0
SNIP1	79753	broad.mit.edu	37	1	38003439	38003439	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38003439G>A	uc001cbi.3	-	3	1174	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	SNIP1_uc010oid.2_Non-coding_Transcript	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Homo sapiens Smad nuclear interacting protein 1 (SNIP1), mRNA.	367					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				GGAGCAAGACGTATTCTCTGC	0.418000														155			39		0	0	1	0	0
RGL1	23179	broad.mit.edu	37	1	183874037	183874037	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183874037T>G	uc001gqm.3	+	13	1970	c.1509T>G	c.(1507-1509)taT>taG	p.Y503*	RGL1_uc010pof.1_Nonsense_Mutation_p.Y273*|RGL1_uc010pog.2_Nonsense_Mutation_p.Y466*|RGL1_uc010poh.2_Nonsense_Mutation_p.Y466*|RGL1_uc001gqo.3_Nonsense_Mutation_p.Y468*|RGL1_uc010poi.2_Nonsense_Mutation_p.Y439*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	468					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GCAACAGCTATTGCATGACCC	0.448000														137			50		0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300355	88300355	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:88300355G>A	uc001pcq.3	-	6	2696	c.2496C>T	c.(2494-2496)aaC>aaT	p.N832N	GRM5_uc009yvm.3_Silent_p.N832N	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	832					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CGCTGCGCACGTTTCTCTCTG	0.567000														147			35		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233266	21233266	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21233266A>G	uc002red.3	-	25	6602	c.6474T>C	c.(6472-6474)atT>atC	p.I2158I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2158	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CATCTAATGCAATTTGTATAT	0.299000														32			11		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195515849	195515849	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:195515849C>T	uc021xjp.1	-	1	2758	c.2602G>A	c.(2602-2604)Gtc>Atc	p.V868I	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.V750I	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	873	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGCCGGGGACGATCGAAGAC	0.592000														74			12		0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65324108	65324108	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:65324108G>T	uc003juk.2	+	13	1453	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	ERBB2IP_uc011cqx.2_Missense_Mutation_p.K381N|ERBB2IP_uc003jui.2_Missense_Mutation_p.K381N|ERBB2IP_uc003jul.2_Missense_Mutation_p.K381N|ERBB2IP_uc011cqy.2_Missense_Mutation_p.K381N|ERBB2IP_uc003juj.2_Missense_Mutation_p.K381N|ERBB2IP_uc011cqz.2_Missense_Mutation_p.K381N|ERBB2IP_uc010iwx.2_Missense_Mutation_p.K381N	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	381					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		ACAGATTAAAGAATTTACCCT	0.303000														32			4		0.014758	0.0149061	1	1	0
ZNF524	147807	broad.mit.edu	37	19	56113511	56113511	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56113511G>A	uc002qlk.1	+	1	116	c.33G>A	c.(31-33)tcG>tcA	p.S11S	FIZ1_uc002qli.4_5'Flank|FIZ1_uc002qlj.4_5'Flank|ZNF524_uc021vbz.1_Silent_p.S11S	NM_153219	NP_694951	Q96C55	ZN524_HUMAN	Homo sapiens zinc finger protein 524 (ZNF524), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S11S(2)		breast(1)|large_intestine(2)|lung(6)|prostate(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CGTTGCCTTCGCCTTTGCCCG	0.652000														141			42		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186024	114186024	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:114186024G>A	uc003ynu.3	-	3	795	c.636C>T	c.(634-636)ggC>ggT	p.G212G	CSMD3_uc003ynt.3_Silent_p.G172G|CSMD3_uc011lhx.2_Silent_p.G212G|CSMD3_uc010mcx.1_Silent_p.G212G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	212	Sushi 1.					integral to membrane|plasma membrane		p.G212V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTGAGGGTGGCCATCAAGGA	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				146			43		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621318	58621318	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:58621318C>T	uc002env.3	-	5	603	c.310_splice	c.e5-1	p.S104_splice	CNOT1_uc002enw.3_Splice_Site|CNOT1_uc002enu.4_Splice_Site_p.S104_splice|CNOT1_uc002enx.3_Splice_Site_p.S104_splice|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	104					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GCTTTAAACTCTGAAACAAAC	0.358000														51			13		0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158534454	158534454	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158534454C>T	uc003woc.1	-	16	1720	c.1481G>A	c.(1480-1482)gGc>gAc	p.G494D	ESYT2_uc003wob.1_Missense_Mutation_p.G670D|ESYT2_uc003wny.1_Intron|ESYT2_uc003wnz.1_Missense_Mutation_p.G109D|ESYT2_uc003woa.1_Missense_Mutation_p.G247D	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	698						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TGTGTTGCTGCCACCAGGGCC	0.572000														131			27		0	0	1	0	0
ZNF326	284695	broad.mit.edu	37	1	90470725	90470725	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:90470725G>A	uc001dnq.2	+	3	270	c.131G>A	c.(130-132)gGg>gAg	p.G44E	ZNF326_uc001dnp.4_Missense_Mutation_p.G44E|ZNF326_uc009wda.1_Missense_Mutation_p.G44E|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	44	Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GGATCCTATGGGGGTCAGAGA	0.423000														122			33		0	0	1	0	0
MICAL1	64780	broad.mit.edu	37	6	109765460	109765460	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:109765460G>A	uc011eaq.2	-	24	3486	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	MICAL1_uc003ptj.3_Silent_p.A1046A|MICAL1_uc003ptk.3_Silent_p.A1046A|MICAL1_uc010kdr.3_Silent_p.A960A	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	1046					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AGCGGATGAGGGCATCTCTCT	0.587000														97			20		0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30411332	30411332	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:30411332G>A	uc002wwq.2	+	4	927	c.825G>A	c.(823-825)agG>agA	p.R275R		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	275					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TGGAGCTGAGGACCGGGAATG	0.622000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		358			18		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152697632	152697632	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152697632G>A	uc021zhb.1	-	55	9431	c.9208C>T	c.(9208-9210)Cga>Tga	p.R3070*	SYNE1_uc003qot.4_Nonsense_Mutation_p.R3077*|SYNE1_uc003qou.4_Nonsense_Mutation_p.R3070*|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Nonsense_Mutation_p.R148*|SYNE1_uc010kjb.1_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3070					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.R3070Q(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGGCCTTTCGAAATCTTTGC	0.388000										HNSCC(10;0.0054)				73			10		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136619	19136619	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136619C>T	uc002nkz.1	-	2	600	c.580G>A	c.(580-582)Gag>Aag	p.E194K	SUGP2_uc002nkx.2_Missense_Mutation_p.E180K|SUGP2_uc002nla.1_Missense_Mutation_p.E180K|SUGP2_uc002nlb.2_Missense_Mutation_p.E180K|SUGP2_uc010xqk.1_Intron	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	180					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CACTCTTTCTCAATCAGCCTG	0.527000														102			20		0	0	1	0	0
EIF4G1	1981	broad.mit.edu	37	3	184052556	184052556	+	Missense_Mutation	SNP	G	A	A	rs140087596	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184052556G>A	uc003fnp.3	+	32	4931	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	EIF4G1_uc010hxx.3_Missense_Mutation_p.V1561M|EIF4G1_uc003fnt.3_Missense_Mutation_p.V1265M|EIF4G1_uc010hxy.3_Missense_Mutation_p.V1561M|EIF4G1_uc003fnq.3_Missense_Mutation_p.V1467M|EIF4G1_uc003fnr.3_Missense_Mutation_p.V1390M|EIF4G1_uc003fns.3_Missense_Mutation_p.V1514M|EIF4G1_uc003fnv.4_Missense_Mutation_p.V1555M|EIF4G1_uc003fnw.3_Missense_Mutation_p.V1561M|EIF4G1_uc003fnx.3_Missense_Mutation_p.V1359M|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1554	EIF4A-binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGACGAGGACGTGGTGAAGGA	0.592000														158			16		0	0	1	0	0
ZNF136	7695	broad.mit.edu	37	19	12298499	12298499	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12298499C>T	uc002mti.3	+	3	1453	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF136_uc010xmh.2_Nonsense_Mutation_p.R370*	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	436					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACATCAATTCGAATACATGA	0.373000														43			4		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42128307	42128307	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42128307G>A	uc003baz.1	+	9	1180	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc003bay.3_Silent_p.L385L|MEI1_uc011apd.1_Non-coding_Transcript	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	385							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACATAGAGCTGCACAAGCAGG	0.557000														30			11		0	0	1	0	0
HEY2	23493	broad.mit.edu	37	6	126080535	126080535	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:126080535G>A	uc003qad.3	+	4	792	c.601G>A	c.(601-603)Ggc>Agc	p.G201S	HEY2_uc011ebr.2_Missense_Mutation_p.G155S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	201					Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		CCAGCCCAACGGCCTCCATGC	0.657000														550			117		0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85952190	85952190	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:85952190G>A	uc002fjh.3	+	6	826	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	257					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCGGCCGACGCCATCCCCAG	0.726000														138			40		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7531717	7531717	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531717G>A	uc010sge.2	-	8	2284	c.2258C>T	c.(2257-2259)cCt>cTt	p.P753L	CD163L1_uc001qsy.3_Missense_Mutation_p.P743L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	743	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTGAAATGAGGCTCTCTGGA	0.483000														149			29		0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24471562	24471562	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24471562G>A	uc002rfe.2	-	26	3482	c.3224C>T	c.(3223-3225)gCa>gTa	p.A1075V	ITSN2_uc002rff.2_Missense_Mutation_p.A1048V|ITSN2_uc002rfg.3_Missense_Mutation_p.A1075V|ITSN2_uc002rfh.1_Non-coding_Transcript	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1075	SH3 4.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTCCTGGTGCAAGGCTAAG	0.343000														58			7		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590550	102590550	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102590550G>A	uc022bky.1	+	3	1027	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	NR4A3_uc004bae.3_Missense_Mutation_p.V76M|NR4A3_uc004baf.1_Missense_Mutation_p.V76M	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	76					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GCCTTCCTGCGTGTACCAAAT	0.602000			T	EWSR1	extraskeletal myxoid chondrosarcoma									167			35		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63257730	63257730	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63257730C>T	uc001nwy.2	-	1	428	c.254G>A	c.(253-255)aGa>aAa	p.R85K	HRASLS5_uc001nwz.2_Missense_Mutation_p.R75K|HRASLS5_uc010rmq.1_Missense_Mutation_p.R85K|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	85										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGATGCTTCTGCCCTGTTC	0.493000														541			118		0	0	1	0	0
NIM1	167359	broad.mit.edu	37	5	43280362	43280362	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43280362A>C	uc003jno.3	+	3	1723	c.842A>C	c.(841-843)aAg>aCg	p.K281T		NM_153361	NP_699192	Q8IY84	NIM1_HUMAN	Homo sapiens serine/threonine-protein kinase NIM1 (NIM1), mRNA.	281	Protein kinase.						ATP binding|magnesium ion binding|protein serine/threonine kinase activity										AAACTAAAAAAGAGCATCCTC	0.557000														123			37		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36050049	36050049	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36050049G>A	uc002oal.1	-	7	1130	c.1101C>T	c.(1099-1101)tgC>tgT	p.C367C	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	367					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.C367C(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCTTGACCACGCAGTTCTTAC	0.617000														349			64		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32879233	32879233	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32879233C>T	uc002xai.3	-	4	689	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	AHCY_uc002xaj.3_Missense_Mutation_p.V156I	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	184					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTTGGTGACGGAGTCATTG	0.582000														156			26		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332731	70332731	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70332731G>T	uc001jok.4	+	1	1141	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	212					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CTGCAGCTGAGATCCTTCCTG	0.478000														90			17		4.75885e-15	5.61893e-15	1	1	0
HIST1H3J	8356	broad.mit.edu	37	6	27858327	27858327	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:27858327C>T	uc003nka.3	-	0	244	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	82					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						AAACGAAGGTCGGTTTTGAAA	0.562000														173			18		0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32541482	32541482	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:32541482T>G	uc003zrb.3	-	2	3233	c.3041A>C	c.(3040-3042)aAc>aCc	p.N1014T	TOPORS_uc003zrc.3_Missense_Mutation_p.N949T	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	1014					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AGACACAATGTTACTGGGCTG	0.423000														130			38		0	0	1	0	0
PRLR	5618	broad.mit.edu	37	5	35072836	35072836	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:35072836G>A	uc003jjm.3	-	5	943	c.384C>T	c.(382-384)gaC>gaT	p.D128D	PRLR_uc003jjk.1_Silent_p.D57D|PRLR_uc003jjg.2_Silent_p.D128D|PRLR_uc003jjh.2_Silent_p.D128D|PRLR_uc003jji.2_Silent_p.D57D|PRLR_uc003jjj.2_Silent_p.D128D|PRLR_uc003jjl.4_Silent_p.D27D|PRLR_uc021xxl.1_Silent_p.D128D|PRLR_uc010iuw.1_Silent_p.D57D	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	128	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CCAAAGGAGGGTCTGGCTGAA	0.428000														108			18		0	0	1	0	0
FAM154B	283726	broad.mit.edu	37	15	82555261	82555261	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:82555261T>G	uc002bgv.3	+	0	110	c.41T>G	c.(40-42)aTt>aGt	p.I14S	EFTUD1_uc002bgt.1_5'Flank|EFTUD1_uc002bgu.1_5'Flank|FAM154B_uc010unr.2_5'UTR|FAM154B_uc010uns.2_Non-coding_Transcript	NM_001008226	NP_001008227	Q658L1	F154B_HUMAN	Homo sapiens family with sequence similarity 154, member B (FAM154B), mRNA.	14										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						CTGTGTCAGATTTGTAGCTGC	0.642000														30			5		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52357834	52357834	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52357834G>A	uc011bef.2	+	2	605	c.344G>A	c.(343-345)cGt>cAt	p.R115H	DNAH1_uc003ddt.1_Missense_Mutation_p.R115H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	115	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAGGTATGTCGTGGCCCCCGA	0.627000														15			9		0	0	1	0	0
ASGR1	432	broad.mit.edu	37	17	7080161	7080161	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7080161C>T	uc002ges.4	-	4	743	c.343G>A	c.(343-345)Gac>Aac	p.D115N	ASGR1_uc021toy.1_Missense_Mutation_p.D76N|ASGR1_uc010clx.1_Missense_Mutation_p.D14N	NM_001671	NP_001662	P07306	ASGR1_HUMAN	Homo sapiens asialoglycoprotein receptor 1 (ASGR1), transcript variant 1, mRNA.	115					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TCACTCAGGTCCTTCTGCTGT	0.547000														199			13		0	0	1	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103504492	103504492	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103504492C>T	uc001vpu.2	+	9	1597	c.1475C>T	c.(1474-1476)gCa>gTa	p.A492V	BIVM-ERCC5_uc010tjb.2_Missense_Mutation_p.A38V|BIVM-ERCC5_uc001vpw.3_Missense_Mutation_p.A38V|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_5'UTR	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	463					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TTAAACCAAGCACTTAAAGGA	0.378000														76			19		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135449	156135449	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156135449C>T	uc003ioq.3	+	1	847	c.358C>T	c.(358-360)Cct>Tct	p.P120S	NPY2R_uc003ior.3_Missense_Mutation_p.P120S|NPY2R_uc021xtm.1_Missense_Mutation_p.P120S	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	120					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.P120R(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				GAAAATGGGTCCTGTCCTGTG	0.517000														111			11		0	0	1	0	0
MLNR	2862	broad.mit.edu	37	13	49794908	49794908	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:49794908C>T	uc010tgj.2	+	0	435	c.435C>T	c.(433-435)cgC>cgT	p.R145R		NM_001507	NP_001498	O43193	MTLR_HUMAN	Homo sapiens motilin receptor (MLNR), mRNA.	145					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		GCCCGCTCCGCGCCCGCGTCT	0.721000														21			3		0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76794284	76794284	+	Missense_Mutation	SNP	C	T	T	rs143649959		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:76794284C>T	uc003hix.3	-	11	1859	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R501H	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	501	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCCACCTTGCGGTTGTGACA	0.488000														91			21		0	0	1	0	0
DL492607	0	broad.mit.edu	37	11	113661438	113661438	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113661438G>A	uc001pof.1	+	0		c.1486G>A								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		CTAATAAGGAGACCCCCAGAC	0.507000														218			41		0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31529975	31529975	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:31529975G>A	uc003aju.4	+	12	2683	c.2591G>A	c.(2590-2592)aGc>aAc	p.S864N	INPP5J_uc003ajw.3_3'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.S496N|INPP5J_uc003ajv.4_Missense_Mutation_p.S497N|INPP5J_uc003ajs.4_Missense_Mutation_p.S497N|INPP5J_uc011alk.2_Missense_Mutation_p.S797N|INPP5J_uc010gwg.3_Missense_Mutation_p.S429N	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	864	Ser-rich.					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GAGGATGACAGCACACTGGAG	0.647000														60			4		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99227256	99227256	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227256C>A	uc003url.1	+	7	1575	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	ZNF498_uc003urm.1_Missense_Mutation_p.H252Q|ZNF498_uc010lge.1_Missense_Mutation_p.H252Q|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.H344Q|ZNF498_uc003uro.1_Missense_Mutation_p.H200Q	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	416					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GCCAGAGACACCACCTGGAGG	0.602000														84			21		1.01871e-10	1.15017e-10	1	1	0
KIAA1644	85352	broad.mit.edu	37	22	44681381	44681381	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44681381G>A	uc003bet.2	-	3	659	c.526C>T	c.(526-528)Cca>Tca	p.P176S		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	176						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACGGCCTGTGGGGCTTGTGGC	0.687000														244			58		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240929543	240929543	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:240929543T>A	uc010fzc.2	-	9	1138	c.1037A>T	c.(1036-1038)gAa>gTa	p.E346V	NDUFA10_uc002vyn.3_Missense_Mutation_p.E316V	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	316					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor	p.T345T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATGGTGACTTCCGGGAGAAA	0.443000														112			33		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121440888	121440888	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:121440888G>A	uc001pxx.3	+	22	3375	c.3246G>A	c.(3244-3246)caG>caA	p.Q1082Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1082	LDL-receptor class A 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCGCAACCAGTATCGCTGCA	0.483000														133			28		0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22154655	22154655	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22154655C>T	uc021urr.1	-	3	3330	c.3181G>A	c.(3181-3183)Gaa>Aaa	p.E1061K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.V1061L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGCCACATTCTTCACATTTG	0.453000														166			39		0	0	1	0	0
KDELC1	79070	broad.mit.edu	37	13	103450919	103450919	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103450919T>C	uc001vpq.4	-	0	486	c.102A>G	c.(100-102)atA>atG	p.I34M	KDELC1_uc001vpr.4_5'UTR|BIVM-ERCC5_uc001vps.3_5'Flank|BIVM-ERCC5_uc010agc.3_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 1 (KDELC1), mRNA.	34						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CGGGTCCCCATATTTCGCTCT	0.532000														99			27		0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48437340	48437340	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48437340C>T	uc002iqo.3	+	10	2395	c.2286C>T	c.(2284-2286)agC>agT	p.S762S	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	762					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					ATGATGCCAGCTGGCTGCACG	0.632000														28			9		0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138221925	138221925	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138221925G>A	uc003ldh.3	+	7	1182	c.1087G>A	c.(1087-1089)Gca>Aca	p.A363T	CTNNA1_uc011cyx.2_Missense_Mutation_p.A260T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A240T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A61T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A363T|CTNNA1_uc003ldl.3_5'UTR	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	363	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGAAGTGATGCACTCAATTC	0.368000														117			9		0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50088031	50088031	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:50088031C>A	uc001wwr.3	+	0	543	c.45C>A	c.(43-45)ctC>ctA	p.L15L	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank|RPL36AL_uc021rsq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	15					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCTGACGCTCGTGGTGGCCG	0.672000														101			33		6.00712e-18	7.23423e-18	1	1	0
DYNC1H1	1778	broad.mit.edu	37	14	102482234	102482234	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102482234G>A	uc001yks.2	+	35	7448	c.7284G>A	c.(7282-7284)acG>acA	p.T2428T	DYNC1H1_uc001ykt.1_5'UTR	NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	2428	AAA 2 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGTACTTCACGTCCAACGGCC	0.532000														95			19		0	0	1	0	0
RFFL	117584	broad.mit.edu	37	17	33348547	33348547	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33348547C>T	uc010cti.1	-	2	676	c.452G>A	c.(451-453)aGg>aAg	p.R151K	RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Missense_Mutation_p.R145K|RFFL_uc002hin.1_Missense_Mutation_p.R145K|RFFL_uc002hip.2_Missense_Mutation_p.R145K|RFFL_uc002hio.2_Missense_Mutation_p.R145K	NM_001017368	NP_001017368	Q8WZ73	RFFL_HUMAN	Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA.	145					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)		GGCACGAGTCCTGTCCTCCTG	0.582000														73			11		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169230145	169230145	+	Missense_Mutation	SNP	C	A	A	rs112062072	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169230145C>A	uc003maf.3	+	25	2718	c.2638C>A	c.(2638-2640)Ctg>Atg	p.L880M	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.L372M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	880					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			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)			ACACCAGGTCCTGGAGAGGAA	0.498000														97			34		9.8876e-21	1.20929e-20	1	1	0
SV2C	22987	broad.mit.edu	37	5	75428010	75428010	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75428010C>T	uc003kei.1	+	1	569	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537000														188			14		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47110052	47110052	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110052G>T	uc002ldv.3	+	7	1536	c.1284G>T	c.(1282-1284)aaG>aaT	p.K428N	LIPG_uc010xdh.2_Missense_Mutation_p.K354N	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	428	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						ACCTGTGGAAGGAGTTTCGCA	0.587000														96			26		1.64293e-13	1.91604e-13	1	1	0
DBC1	1620	broad.mit.edu	37	9	122004453	122004453	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:122004453C>T	uc004bkc.2	-	3	907	c.451G>A	c.(451-453)Gac>Aac	p.D151N	DBC1_uc004bkd.2_Missense_Mutation_p.D151N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	151	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding	p.L150F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GACTTCCTGTCGAGGCGACTT	0.488000														81			10		0	0	1	0	0
EXTL3	2137	broad.mit.edu	37	8	28575113	28575113	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28575113C>T	uc003xgz.1	+	2	2130	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	513						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCGGCAAGGCCGCTTTCTCTG	0.562000														149			41		0	0	1	0	0
PTCH1	5727	broad.mit.edu	37	9	98239123	98239123	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:98239123G>T	uc004avk.4	-	10	1708	c.1520C>A	c.(1519-1521)gCt>gAt	p.A507D	PTCH1_uc010mro.3_Missense_Mutation_p.A356D|PTCH1_uc010mrp.3_Missense_Mutation_p.A356D|PTCH1_uc010mrq.3_Missense_Mutation_p.A356D|PTCH1_uc004avl.4_Missense_Mutation_p.A356D|PTCH1_uc004avm.4_Missense_Mutation_p.A506D|PTCH1_uc010mrr.3_Missense_Mutation_p.A441D|PTCH1_uc010mrs.1_Missense_Mutation_p.A175D	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	507	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AACACCAAGAGCGAGAAATGG	0.428000														42			11		1.58986e-06	1.69271e-06	1	1	0
FOSL2	2355	broad.mit.edu	37	2	28635000	28635000	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28635000A>T	uc002rma.3	+	3	1475	c.666A>T	c.(664-666)aaA>aaT	p.K222N	FOSL2_uc021vfg.1_Missense_Mutation_p.K214N|FOSL2_uc010ymi.2_Missense_Mutation_p.K183N	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	222					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TAGTGGTGAAACAGGAGCCCC	0.672000														215			40		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6190296	6190296	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6190296C>T	uc001amb.2	-	21	3466	c.3355G>A	c.(3355-3357)Gac>Aac	p.D1119N	CHD5_uc001alz.2_5'UTR|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1119	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGTCCGAGTCGTAGATGATG	0.642000														161			13		0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144882762	144882762	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144882762G>A	uc021ouh.1	-	23	3559	c.3257C>T	c.(3256-3258)aCt>aTt	p.T1086I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.T1086I|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.T93I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1086					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGTTACCACAGTCTCAACCAT	0.502000			T	PDGFRB	MPD									550			30		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106866479	106866479	+	RNA	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106866479G>T	uc021ser.1	-	432		c.13741C>A								Parts of antibodies, mostly variable regions.																		CGTGTTCTTGGAATTGTCTCT	0.527000														465			29		2.48696e-23	3.07766e-23	1	1	0
NCAM1	4684	broad.mit.edu	37	11	113075180	113075180	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113075180C>T	uc021qqp.1	+	2	666	c.294C>T	c.(292-294)ggC>ggT	p.G98G	NCAM1_uc001pno.3_5'UTR|NCAM1_uc001pnp.3_Silent_p.G98G|NCAM1_uc021qqo.1_Silent_p.G98G|NCAM1_uc001pnq.3_Silent_p.G98G|NCAM1_uc001pnr.3_Silent_p.G98G	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	100	Ig-like C2-type 1.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TGGTTACAGGCGAGGATGGCA	0.527000														72			17		0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241656817	241656817	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:241656817C>A	uc010fzk.3	-	48	5587	c.5340G>T	c.(5338-5340)aaG>aaT	p.K1780N	KIF1A_uc002vzy.3_Missense_Mutation_p.K1679N|KIF1A_uc002vzw.3_Missense_Mutation_p.K340N|KIF1A_uc002vzx.3_Missense_Mutation_p.K406N	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1679					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TTCTGGAGAGCTTGGACCTGC	0.662000														181			45		3.4345e-17	4.11625e-17	1	1	0
TMEM225	338661	broad.mit.edu	37	11	123754867	123754867	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123754867T>G	uc001pzi.3	-	2	586	c.378A>C	c.(376-378)caA>caC	p.Q126H		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TGGATTGACCTTGCTTCAGCT	0.373000														131			23		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178425861	178425861	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178425861C>T	uc001glq.3	+	12	2981	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	RASAL2_uc001glr.3_Silent_p.T598T|RASAL2_uc009wxc.3_Silent_p.T112T	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	598					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.V738F(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TACAGGCGACCGTGGCAAAAT	0.468000														430			36		0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624777	123624777	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:123624777G>A	uc010rzy.2	-	0	450	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CAATGGTGAAGCCCACCACCC	0.517000														126			21		0	0	1	0	0
FZD1	8321	broad.mit.edu	37	7	90896026	90896026	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:90896026C>A	uc003ula.3	+	0	2244	c.1831C>A	c.(1831-1833)Ctg>Atg	p.L611M		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	611					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCTTATGACGCTGATCGTGGG	0.617000														144			44		3.54561e-26	4.4286e-26	1	1	0
MYH7B	57644	broad.mit.edu	37	20	33588098	33588098	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33588098G>A	uc002xbi.2	+	38	5227	c.4910G>A	c.(4909-4911)cGc>cAc	p.R1637H		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1595						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TCCCATAGGCGCAACCACCAG	0.582000														378			81		0	0	1	0	0
SLC46A3	283537	broad.mit.edu	37	13	29287142	29287142	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:29287142A>G	uc001usj.3	-	2	1277	c.735T>C	c.(733-735)acT>acC	p.T245T	SLC46A3_uc001usg.3_Silent_p.T170T|SLC46A3_uc001usi.3_Silent_p.T245T|SLC46A3_uc001ush.3_Silent_p.T245T|SLC46A3_uc001usk.3_Silent_p.T170T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	245					transmembrane transport	integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGCATGTAAGTTCGGTAAA	0.333000														32			10		0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176965333	176965333	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176965333G>A	uc010zev.1	+	1	658	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	HOXD12_uc021vsp.1_3'UTR	NM_021193	NP_067016	P35452	HXD12_HUMAN	Homo sapiens homeobox D12 (HOXD12), mRNA.	220						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GTTGGAGAACGAATTCCTCGT	0.567000														52			11		0	0	1	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013843	149013843	+	Missense_Mutation	SNP	G	A	A	rs45577435		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:149013843G>A	uc022cgq.1	+	0	797	c.797G>A	c.(796-798)gGc>gAc	p.G266D	MAGEA8_uc022cgo.1_Missense_Mutation_p.G266D|MAGEA8_uc004fdw.2_Missense_Mutation_p.G266D|MAGEA8_uc022cgp.1_Missense_Mutation_p.G266D	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	266	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					CAGGCGCCCGGCAGTGATCCT	0.572000														294			75		0	0	1	0	0
OLFM2	93145	broad.mit.edu	37	19	9965413	9965413	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9965413C>T	uc002mmp.3	-	5	842	c.814G>A	c.(814-816)Gtg>Atg	p.V272M		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	272	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						TTGTACACCACGTGGCCCGTG	0.612000														80			17		0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187628088	187628088	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:187628088C>T	uc003izf.3	-	1	3082	c.2894G>A	c.(2893-2895)aGc>aAc	p.S965N	FAT1_uc010iso.1_Missense_Mutation_p.S965N	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	965	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTCCAGAAGGCTGTATCTCAC	0.473000										HNSCC(5;0.00058)				244			30		0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43329596	43329596	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43329596C>T	uc002yzw.3	-	7	1232	c.990G>A	c.(988-990)caG>caA	p.Q330Q	C2CD2_uc002yzt.3_5'Flank|C2CD2_uc002yzu.3_Silent_p.Q162Q|C2CD2_uc002yzv.3_Silent_p.Q175Q|C2CD2_uc002yzx.1_Silent_p.Q175Q	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	330	C2.					cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CCTCTGAAATCTGCAGGTGTA	0.493000														110			7		0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78351653	78351653	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:78351653G>A	uc003kfs.3	-	2	361	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	DMGDH_uc011cte.1_5'Flank|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	119					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCTTCTTCCAGTTTCTCATAA	0.353000														33			8		0	0	1	0	0
MAF	4094	broad.mit.edu	37	16	79633438	79633438	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:79633438C>T	uc002ffm.3	-	0	1185	c.362G>A	c.(361-363)aGc>aAc	p.S121N	MAF_uc002ffn.3_Missense_Mutation_p.S121N	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	121					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GAGCTGGTGGCTGTTGCTGAT	0.736000			T	IGH@	MM									17			8		0	0	1	0	0
NME1-NME2	654364	broad.mit.edu	37	17	49239138	49239138	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:49239138G>A	uc002iti.2	+	4	522	c.391G>A	c.(391-393)Ggc>Agc	p.G131S	NME1-NME2_uc002ith.2_Missense_Mutation_p.G156S|NME1-NME2_uc002itk.3_Intron|NME1-NME2_uc002itj.3_Intron	NM_000269	NP_000260	P22392	NDKB_HUMAN	Homo sapiens non-metastatic cells 1, protein (NM23A) expressed in (NME1), transcript variant 2, mRNA.	131					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell adhesion|negative regulation of apoptosis|nucleobase, nucleoside and nucleotide interconversion|positive regulation of epithelial cell proliferation|positive regulation of keratinocyte differentiation	cytosol|lamellipodium|nucleus|ruffle	ATP binding|DNA binding|metal ion binding|nucleoside diphosphate kinase activity|protein binding|protein histidine kinase activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAAGGAGATCGGCTTGTGGTT	0.468000														108			20		0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99661460	99661460	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:99661460G>A	uc010nmz.3	-	0	3812	c.2136C>T	c.(2134-2136)acC>acT	p.T712T	PCDH19_uc004efw.4_Silent_p.T712T|PCDH19_uc004efx.4_Silent_p.T712T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	712					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGCAGTTGTAGGTCCGGATCT	0.428000														19			4		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150903146	150903146	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150903146G>A	uc003eyp.3	+	10	1653	c.1524G>A	c.(1522-1524)acG>acA	p.T508T	MED12L_uc011bnz.2_Silent_p.T368T|MED12L_uc003eyn.3_Silent_p.T508T|MED12L_uc003eyo.3_Silent_p.T508T|5S_rRNA_uc021xfx.1_5'Flank	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	508					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.T508M(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGTGGTGACGCTGTTATGTG	0.537000														109			26		0	0	1	0	0
C19orf29-AS1	404665	broad.mit.edu	37	19	3611828	3611828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:3611828C>T	uc021umw.1	+	2	294	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	C19orf29_uc010xho.2_3'UTR|C19orf29_uc010dtn.3_3'UTR|C19orf29_uc002lyh.3_3'UTR|C19orf29_uc002lyi.4_Intron|C19orf29_uc010dto.3_Intron					Homo sapiens C19orf29 antisense RNA 1 (non-protein coding) (C19orf29-AS1), non-coding RNA.																		CGCGGCCCTGCAGCCCAGACA	0.647000														24			4		0	0	1	0	0
FAM116A	201627	broad.mit.edu	37	3	57616552	57616552	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:57616552C>A	uc003dja.3	-	17	1479	c.1408_splice	c.e17-1	p.S470_splice		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	470										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GAGGTGGACTCTAGAAAACAG	0.338000														35			13		2.27111e-07	2.44751e-07	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266443	43266443	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43266443G>A	uc021yzt.1	+	0	446	c.347G>A	c.(346-348)gGc>gAc	p.G116D	SLC22A7_uc010jyl.1_Missense_Mutation_p.G116D|SLC22A7_uc003ous.3_Missense_Mutation_p.G116D|SLC22A7_uc003out.3_Missense_Mutation_p.G116D	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	116						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCTCTCAGGGCTGGGAGTAC	0.572000														124			22		0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37988649	37988649	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:37988649C>A	uc003tfp.3	+	2	857	c.838_splice	c.e2+1	p.Y280_splice	EPDR1_uc003tfq.3_Intron|EPDR1_uc010kxh.3_Splice_Site_p.Y99_splice	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	160					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						CAGCTAGATCCTGTAAGGGTT	0.463000														90			20		5.03518e-11	5.70985e-11	1	1	0
SPPL2B	56928	broad.mit.edu	37	19	2334702	2334702	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:2334702G>A	uc002lvs.3	+	1	248	c.168G>A	c.(166-168)ccG>ccA	p.P56P	SPPL2B_uc010dsw.1_Silent_p.P28P|SPPL2B_uc010dsy.1_Silent_p.P28P|SPPL2B_uc010dsz.1_Silent_p.P56P|SPPL2B_uc002lvr.3_Silent_p.P56P	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	56	PA.					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	p.P56P(1)					Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCGCACGACCTCA	0.677000														40			14		0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124522508	124522508	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124522508C>T	uc004bln.3	+	5	945	c.876C>T	c.(874-876)ggC>ggT	p.G292G	DAB2IP_uc004blo.3_Silent_p.G196G	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	320	C2.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|Ras GTPase activator activity|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ACCCCAAGGGCGGCAAGGGCC	0.622000														115			21		0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794269	6794269	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:6794269G>T	uc003wqu.1	-	1	204	c.153C>A	c.(151-153)agC>agA	p.S51R		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	51					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAAGAGCAGAGCTTTTATCCC	0.537000														139			32		1.74807e-11	1.99175e-11	1	1	0
TATDN2	9797	broad.mit.edu	37	3	10291033	10291033	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10291033G>T	uc011atr.2	+	1	730	c.149G>T	c.(148-150)aGc>aTc	p.S50I	TATDN2_uc003bvg.2_Missense_Mutation_p.S50I|TATDN2_uc003bvf.3_Missense_Mutation_p.S50I|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	50						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						GGAGGGCCCAGCAGCCCCAAG	0.667000														303			64		4.09171e-25	5.09752e-25	1	1	0
RIMS1	22999	broad.mit.edu	37	6	72960117	72960117	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:72960117C>T	uc003pga.3	+	12	2403	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	RIMS1_uc011dyb.2_Missense_Mutation_p.R402C|RIMS1_uc003pgc.3_Missense_Mutation_p.R402C|RIMS1_uc010kaq.3_Missense_Mutation_p.R250C|RIMS1_uc011dyc.2_Missense_Mutation_p.R250C|RIMS1_uc010kar.3_Missense_Mutation_p.R169C|RIMS1_uc011dyd.2_Missense_Mutation_p.R235C|RIMS1_uc003pge.3_5'UTR|RIMS1_uc003pgf.3_5'UTR|RIMS1_uc003pgi.3_5'UTR|RIMS1_uc003pgg.3_5'UTR|RIMS1_uc003pgh.3_5'UTR|RIMS1_uc003pgd.3_5'UTR|RIMS1_uc011dye.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R402C|RIMS1_uc010kas.1_Missense_Mutation_p.R235C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	776	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R776R(1)|p.R776H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGTAGATGGACGTCCTCGAAA	0.358000														28			4		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819143	50819143	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50819143C>T	uc001jhw.3	+	0	797	c.357C>T	c.(355-357)agC>agT	p.S119S	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	119					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTACGGAGAGCGAAGACGTGA	0.652000														262			27		0	0	1	0	0
ASAP3	55616	broad.mit.edu	37	1	23758362	23758362	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:23758362C>T	uc001bha.2	-	22	2497	c.2373G>A	c.(2371-2373)gaG>gaA	p.E791E	ASAP3_uc001bgy.1_Silent_p.E295E|ASAP3_uc010odz.1_Silent_p.E681E|ASAP3_uc010oea.1_Silent_p.E782E	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	791					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						TGCCCAGGCTCTCAGGGGTCT	0.552000														146			28		0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2104068	2104068	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2104068C>T	uc003zhc.3	+	22	3290	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	SMARCA2_uc003zhd.3_Missense_Mutation_p.A1064V|SMARCA2_uc010mha.3_Missense_Mutation_p.A997V	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1064	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding	p.H1063Q(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AAATTGAGAGCGACTAATCAC	0.443000														169			40		0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17281989	17281989	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:17281989G>T	uc001azt.2	+	23	3717	c.3648G>T	c.(3646-3648)cgG>cgT	p.R1216R	CROCC_uc001azu.2_Silent_p.R519R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1216					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGCCCTGCGGCGTTCCAATG	0.677000														30			3		6.4e-05	6.6609e-05	1	1	0
LACE1	246269	broad.mit.edu	37	6	108645053	108645053	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:108645053G>T	uc003psj.3	+	1	350	c.164G>T	c.(163-165)aGc>aTc	p.S55I		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	55							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		ACATCCGAGAGCATGACCCCA	0.393000														138			35		1.30998e-17	1.57366e-17	1	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140799067	140799067	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140799067C>A	uc003lkn.2	+	0	1808	c.1641C>A	c.(1639-1641)agC>agA	p.S547R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkm.3_Missense_Mutation_p.S547R|PCDHGC5_uc003lko.1_5'Flank|PCDHGC5_uc003lkq.2_5'Flank|PCDHGC5_uc003lkp.2_5'Flank	NM_018927	NP_061750	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 7 (PCDHGB7), transcript variant 1, mRNA.	549	Cadherin 5.				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)			CCAATGTGAGCCTGCGCGTGT	0.711000														149			35		1.99505e-19	2.42313e-19	1	1	0
HECW2	57520	broad.mit.edu	37	2	197184558	197184558	+	Silent	SNP	G	A	A	rs61752163		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197184558G>A	uc002utm.1	-	8	1239	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	352					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	p.P351S(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCTCGTCATCGGAAGGGCTAC	0.493000														91			15		0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61042028	61042028	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:61042028G>A	uc001nra.3	-	11	1803	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	508	VWFC 3.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCCGTCTGCGTACCACCGGC	0.552000														110			24		0	0	1	0	0
HAUS5	23354	broad.mit.edu	37	19	36113851	36113851	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36113851C>T	uc002oam.1	+	18	1909	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	TRNA_Pseudo_uc021ust.1_5'Flank	NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	620					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GTGGCGGCTGCGCTGGGTTCA	0.657000														161			46		0	0	1	0	0
MKL1	57591	broad.mit.edu	37	22	40814828	40814828	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:40814828C>T	uc003ayv.1	-	8	1821	c.1614G>A	c.(1612-1614)acG>acA	p.T538T	MKL1_uc010gyf.1_Silent_p.T488T|MKL1_uc003ayw.1_Silent_p.T538T|MKL1_uc010gye.1_Silent_p.T538T	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	538					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGAGCATGCGCGTCAGCGCCT	0.706000			T	RBM15	acute megakaryocytic leukemia									98			19		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669633	158669633	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158669633G>T	uc001fsu.1	-	0	810	c.810C>A	c.(808-810)ttC>ttA	p.F270L		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CTATATCCCAGAACAAAGAGT	0.423000														75			18		3.32936e-07	3.57961e-07	1	1	0
DYRK1B	9149	broad.mit.edu	37	19	40318000	40318000	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40318000C>T	uc002omj.3	-	7	1300	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DYRK1B_uc002omi.3_Silent_p.A340A|DYRK1B_uc002omk.3_Silent_p.A340A	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B (DYRK1B), transcript variant a, mRNA.	340	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GAGCCTTGGGCGCCTGGTCCA	0.642000														131			9		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63019326	63019326	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:63019326C>T	uc002alb.4	+	24	3296	c.3296C>T	c.(3295-3297)gCg>gTg	p.A1099V		NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1099	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.A1099A(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ACATCCAAGGCGGTGGGCTCC	0.532000														87			20		0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57625629	57625629	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57625629G>A	uc001snf.2	+	3	651	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	SHMT2_uc001snh.2_Missense_Mutation_p.A151T|SHMT2_uc009zpk.2_Missense_Mutation_p.A149T|SHMT2_uc001sng.2_Nonsense_Mutation_p.W43*|SHMT2_uc001sni.2_Missense_Mutation_p.A128T|SHMT2_uc010srg.2_Missense_Mutation_p.A158T|SHMT2_uc010srh.2_Missense_Mutation_p.A128T|SHMT2_uc001snj.2_Nonsense_Mutation_p.W43*|SHMT2_uc010sri.2_Missense_Mutation_p.A128T|SHMT2_uc001snk.2_Nonsense_Mutation_p.W43*|SHMT2_uc010srj.2_5'Flank	NM_005412	NP_001159831	P34897	GLYM_HUMAN	Homo sapiens serine hydroxymethyltransferase 2 (mitochondrial) (SHMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	p.A149V(1)		breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGCCAACCTGGCCGTCTACAC	0.637000														60			15		0	0	1	0	0
KIAA0319L	79932	broad.mit.edu	37	1	35900633	35900633	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:35900633C>A	uc001byx.3	-	20	3270	c.3012G>T	c.(3010-3012)gaG>gaT	p.E1004D	KIAA0319L_uc001byw.3_Missense_Mutation_p.E446D	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	Homo sapiens KIAA0319-like (KIAA0319L), mRNA.	1004						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCAGCTCTGACTCGGAGTGCA	0.542000														97			28		1.08312e-15	1.2841e-15	1	1	0
CUZD1	50624	broad.mit.edu	37	10	124591924	124591924	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:124591924G>T	uc001lgs.3	-	10	2645	c.1694C>A	c.(1693-1695)cCt>cAt	p.P565H	CUZD1_uc001lgp.3_Missense_Mutation_p.P284H|CUZD1_uc009yad.3_Missense_Mutation_p.P284H|CUZD1_uc009yaf.3_Missense_Mutation_p.P199H|CUZD1_uc001lgr.3_Missense_Mutation_p.P284H|CUZD1_uc010qty.2_Missense_Mutation_p.P284H|CUZD1_uc009yae.3_Missense_Mutation_p.P284H|CUZD1_uc010qtz.2_Missense_Mutation_p.P565H	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	565					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)		ACTGTTGAAAGGCTGGTTTGG	0.388000														150			38		7.61165e-28	9.54728e-28	1	1	0
ZNF76	7629	broad.mit.edu	37	6	35255528	35255528	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35255528T>C	uc003oki.1	+	4	543	c.338T>C	c.(337-339)gTa>gCa	p.V113A	ZNF76_uc011dsy.1_Missense_Mutation_p.V113A|ZNF76_uc011dsz.1_Missense_Mutation_p.V113A|ZNF76_uc003okj.1_Missense_Mutation_p.V113A|ZNF76_uc011dsx.2_Missense_Mutation_p.V113A	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						ATCCTGGCCGTACAGACAGAG	0.607000														91			20		0	0	1	0	0
SPG20	23111	broad.mit.edu	37	13	36905734	36905734	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36905734C>A	uc001uvn.3	-	4	1081	c.811_splice	c.e4-1	p.V271_splice	SPG20_uc010ten.2_Splice_Site_p.V271_splice|SPG20_uc001uvm.3_Splice_Site_p.V271_splice|SPG20_uc001uvo.3_Splice_Site_p.V271_splice|SPG20_uc001uvq.3_Splice_Site_p.V271_splice|SPG20_uc001uvp.2_Splice_Site_p.V271_splice	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	271					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		AGTCACAAACCTGAAAGGATT	0.313000														61			21		8.34094e-07	8.90579e-07	1	1	0
BLM	641	broad.mit.edu	37	15	91303942	91303942	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91303942G>A	uc002bpr.3	+	6	1436	c.1339G>A	c.(1339-1341)Ggg>Agg	p.G447R	BLM_uc010uqh.2_Missense_Mutation_p.G447R|BLM_uc010uqi.2_Missense_Mutation_p.G72R|BLM_uc010bnx.3_Missense_Mutation_p.G447R	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	447					G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTGCCCTACAGGGAATTCTAT	0.438000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					192			42		0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130587516	130587516	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130587516C>T	uc004bsj.4	-	5	1223	c.810G>A	c.(808-810)caG>caA	p.Q270Q	ENG_uc011mam.2_Silent_p.Q81Q|ENG_uc004bsk.4_Silent_p.Q270Q	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	270					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						TCACCCAGATCTGCATGTTGT	0.602000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					75			18		0	0	1	0	0
FAM190A	401145	broad.mit.edu	37	4	91230540	91230540	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:91230540G>T	uc003hsv.4	+	1	1445	c.1105G>T	c.(1105-1107)Gca>Tca	p.A369S	FAM190A_uc003hsu.3_Missense_Mutation_p.A369S|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.A369S	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	369										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TAACCTACCAGCAGATAGTGA	0.408000														91			25		3.6726e-16	4.37102e-16	1	1	0
PROX1	5629	broad.mit.edu	37	1	214171148	214171148	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:214171148T>G	uc001hkh.3	+	1	1542	c.1270T>G	c.(1270-1272)Ttt>Gtt	p.F424V	PROX1_uc001hkg.1_Missense_Mutation_p.F424V	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	424					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTGGACACCTTTGGCAATGT	0.582000														262			82		0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38691111	38691111	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:38691111A>G	uc021yzh.1	+	3	500	c.391_splice	c.e3-2	p.A131_splice	DNAH8_uc003ooe.2_Splice_Site	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCATTCCTTAGGCAAGATTT	0.313000														106			21		0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600355	54600355	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54600355G>A	uc002qdd.3	-	3	359	c.242C>T	c.(241-243)cCc>cTc	p.P81L	OSCAR_uc002qcy.3_Missense_Mutation_p.P60L|OSCAR_uc002qcz.3_Missense_Mutation_p.P56L|OSCAR_uc002qda.3_Missense_Mutation_p.P60L|OSCAR_uc002qdb.3_Missense_Mutation_p.P45L|OSCAR_uc010erc.3_Silent_p.T23T|OSCAR_uc002qdc.3_Missense_Mutation_p.P70L|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	56	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					AGCGGGTTGGGGTGCCCGGCA	0.587000														223			31		0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52004877	52004877	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52004877G>A	uc002pwx.1	-	0	167	c.111C>T	c.(109-111)ggC>ggT	p.G37G	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	37	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGACACACAGGCCCTCCTGCA	0.577000														113			16		0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530896	80530896	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80530896G>A	uc021vjt.1	-	0	49	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.P17S	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	17						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						ACCCCCGAGGGCCTCCTCAGC	0.632000										HNSCC(69;0.2)				122			45		0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154175987	154175987	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154175987G>A	uc004fmt.3	-	12	2270	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	700	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	p.S700L(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTTTTCCATCGACATGAAGAC	0.408000														133			21		0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41765518	41765518	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:41765518G>A	uc010ehj.3	+	19	2584	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	HNRNPUL1_uc002opz.4_5'Flank|HNRNPUL1_uc002oqa.4_5'Flank|AXL_uc010ehk.3_Silent_p.E789E	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	798	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GTTTTACAGAGCTGCGGGAAG	0.552000														99			23		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34100356	34100356	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34100356C>T	uc002hjy.1	-	3	691	c.432G>A	c.(430-432)gaG>gaA	p.E144E	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	144					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCCGGAGATGCTCAGGCCAGT	0.652000														52			13		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100859508	100859508	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100859508G>A	uc003uyd.3	-	3	894	c.438C>T	c.(436-438)ccC>ccT	p.P146P	ZNHIT1_uc003uye.3_5'Flank|ZNHIT1_uc003uyf.3_5'Flank	NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	146					protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCCCCACTCGGGCCAGCAGA	0.637000														111			29		0	0	1	0	0
URI1	8725	broad.mit.edu	37	19	30503346	30503346	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:30503346G>T	uc002nsr.3	+	9	1642	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	URI1_uc002nsq.3_Nonsense_Mutation_p.E427*|URI1_uc002nss.3_Nonsense_Mutation_p.E405*|URI1_uc002nst.3_Nonsense_Mutation_p.E369*	NM_003796	NP_003787	O94763	RMP_HUMAN	Homo sapiens URI1, prefoldin-like chaperone (URI1), transcript variant 1, mRNA.	445					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										CAGCTGCGAAGAAGCCACTTG	0.453000														114			21		4.35082e-09	4.81328e-09	1	1	0
TEKT1	83659	broad.mit.edu	37	17	6704113	6704113	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6704113T>G	uc002gdt.3	-	6	1112	c.1002A>C	c.(1000-1002)caA>caC	p.Q334H	TEKT1_uc010vth.2_Missense_Mutation_p.Q188H	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	334					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTAGCCTATATTGTGCGACAT	0.572000											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		275			59		0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132626412	132626412	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132626412C>T	uc001ujy.4	-	5	1017	c.978G>A	c.(976-978)gaG>gaA	p.E326E	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	326	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGAGGCTCTCCTGCTCCT	0.577000														107			12		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777341	237777341	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237777341C>T	uc001hyl.1	+	36	5033	c.4913C>T	c.(4912-4914)tCt>tTt	p.S1638F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1638	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.D1638Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTACAGATCTGTTGACATC	0.418000														61			12		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44549200	44549200	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44549200G>T	uc021ujl.1	-	0	1335	c.1099C>A	c.(1099-1101)Ctg>Atg	p.L367M	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_001094287	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	367	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CACCCTTCCAGAACGGGTTCA	0.612000														537			22		5.61819e-17	6.72451e-17	1	1	0
EXT2	2132	broad.mit.edu	37	11	44129365	44129365	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44129365C>A	uc001mya.3	+	1	258	c.202C>A	c.(202-204)Ctg>Atg	p.L68M	EXT2_uc010rfo.2_Missense_Mutation_p.L63M|EXT2_uc009ykt.3_Missense_Mutation_p.L35M|EXT2_uc001mxz.3_Missense_Mutation_p.L35M	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	35					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATTGTCCTCCTGGGCCTCAT	0.512000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					166			37		6.90743e-12	7.92012e-12	1	1	0
STRN4	29888	broad.mit.edu	37	19	47232005	47232005	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:47232005C>T	uc002pfm.3	-	6	942	c.909G>A	c.(907-909)atG>atA	p.M303I	STRN4_uc002pfl.3_Missense_Mutation_p.M303I|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	303						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTCGTCTTCCATTTCGGGCA	0.577000														153			44		0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49308835	49308835	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49308835T>C	uc001zxe.2	-	10	1747	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	SECISBP2L_uc001zxd.2_Missense_Mutation_p.M450V|SECISBP2L_uc010bep.2_Missense_Mutation_p.M257V	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	495										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GCAGCTAACATGTCCCCTAAA	0.343000														88			17		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28935055	28935055	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28935055G>T	uc002kwp.3	+	14	3108	c.2896G>T	c.(2896-2898)Ggc>Tgc	p.G966C	DSG1_uc010xbp.2_Missense_Mutation_p.G325C	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	966					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAATTAGTGGCACCACTGG	0.567000														251			62		4.88506e-25	6.08345e-25	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219602420	219602420	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219602420G>A	uc002viy.3	+	2	391	c.21G>A	c.(19-21)caG>caA	p.Q7Q	TTLL4_uc010zkl.1_Intron|TTLL4_uc010fvx.3_Silent_p.Q7Q	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	7					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CAGGAACACAGCACTATAGTA	0.587000														124			27		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1805955	1805955	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:1805955G>A	uc002ltw.3	-	8	987	c.753C>T	c.(751-753)gcC>gcT	p.A251A	ATP8B3_uc002ltv.3_Silent_p.A198A|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_5'UTR|ATP8B3_uc002ltz.1_Silent_p.A198A	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	251					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGCATGTCGGCCTGGTGTG	0.662000														119			12		0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25769379	25769379	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25769379G>A	uc003nfe.3	+	2	377	c.258G>A	c.(256-258)caG>caA	p.Q86Q	SLC17A4_uc011djx.2_Silent_p.Q86Q|SLC17A4_uc003nff.1_Silent_p.Q23Q|SLC17A4_uc003nfg.3_Silent_p.Q23Q	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	86					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGACTCCCAGGGCTACTGGA	0.428000														113			30		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45888926	45888926	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45888926C>T	uc002pbn.3	-	10	2219	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q	PPP1R13L_uc002pbm.3_Silent_p.Q293Q|PPP1R13L_uc002pbo.3_Silent_p.Q714Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	714					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CAGCGCCGTGCTGCACCAGCG	0.662000														94			20		0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862727	1862727	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1862727C>T	uc021qbv.1	+	6	517	c.495C>T	c.(493-495)atC>atT	p.I165I	TNNI2_uc021qbt.1_Silent_p.I144I|TNNI2_uc021qbu.1_Silent_p.I144I|TNNI2_uc010qxe.1_Silent_p.I165I	NM_003282	NP_003273	P48788	TNNI2_HUMAN	Homo sapiens troponin I type 2 (skeletal, fast) (TNNI2), transcript variant 1, mRNA.	165					muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|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)		GGAAGAACATCGAGGAGAAGT	0.642000														114			22		0	0	1	0	0
NR5A1	2516	broad.mit.edu	37	9	127262888	127262888	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:127262888G>A	uc004boo.1	-	3	538	c.351C>T	c.(349-351)ggC>ggT	p.G117G	NR5A1_uc022bnh.1_Silent_p.G117G	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	117					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						CCAGCTTGAAGCCATTGGCCC	0.672000														95			26		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320790	79320790	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320790G>A	uc010mpk.3	-	7	6524	c.6400C>T	c.(6400-6402)Ctt>Ttt	p.L2134F	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.L1956F	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2134					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTGAGACAAAGCTCACTGGAT	0.488000														159			37		0	0	1	0	0
GPR171	29909	broad.mit.edu	37	3	150916725	150916725	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:150916725A>C	uc003eyq.4	-	2	689	c.449T>G	c.(448-450)aTg>aGg	p.M150R	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|GPR171_uc021xfy.1_Missense_Mutation_p.M150R	NM_013308	NP_037440	O14626	GP171_HUMAN	Homo sapiens G protein-coupled receptor 171 (GPR171), mRNA.	150						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGGAATCATCATATTTGGCAC	0.378000														80			20		0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39033740	39033740	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:39033740A>G	uc002rrf.3	-	21	3876	c.3777T>C	c.(3775-3777)gaT>gaC	p.D1259D	DHX57_uc002rrd.4_Intron|DHX57_uc002rre.3_Silent_p.D692D	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	1259							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.N1258N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTACATATCCATCGTTCTTGG	0.423000														156			19		0	0	1	0	0
C4orf19	55286	broad.mit.edu	37	4	37592370	37592370	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:37592370G>A	uc003gsw.4	+	3	876	c.693G>A	c.(691-693)acG>acA	p.T231T	C4orf19_uc003gsy.4_Silent_p.T231T	NM_001104629	NP_060772	Q8IY42	CD019_HUMAN	Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA.	231										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTTTGAATACGCCCTTCTCTG	0.458000														72			15		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167209	89167209	+	Silent	SNP	G	A	A	rs34972688		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167209G>A	uc010cig.2	+	1	328	c.120G>A	c.(118-120)tcG>tcA	p.S40S	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Silent_p.S40S|ACSF3_uc021tmq.1_Silent_p.S40S|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	40					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCCCGCTCGGACAGGAGCG	0.677000														140			33		0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561315	52561315	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52561315G>A	uc003den.3	-	9	1154	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	NT5DC2_uc003dem.3_Missense_Mutation_p.R205W|NT5DC2_uc010hmi.3_Missense_Mutation_p.R347W|NT5DC2_uc010hmj.3_Missense_Mutation_p.R151W|NT5DC2_uc003deo.3_Missense_Mutation_p.R335W	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	335							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CTTACCTGCCGATAGATCTTG	0.592000														69			17		0	0	1	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170801	90170801	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:90170801G>A	uc003hsm.1	-	1	980	c.461C>T	c.(460-462)tCc>tTc	p.S154F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S154F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	154										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTCATCAGGGAATCTTCAGG	0.512000														242			60		0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61417467	61417467	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61417467T>G	uc002jal.4	+	9	1382	c.1359T>G	c.(1357-1359)gtT>gtG	p.V453V	TANC2_uc010wpe.2_Silent_p.V363V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	453							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGCAGGTGGTTGCCTATCACT	0.423000														77			8		0	0	1	0	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117013978	117013978	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:117013978G>A	uc009zwk.1	+	1	385	c.231G>A	c.(229-231)caG>caA	p.Q77Q	MAP1LC3B2_uc021rej.1_Silent_p.Q77Q	NM_001085481	NP_001078950	A6NCE7	MP3B2_HUMAN	Homo sapiens microtubule-associated protein 1 light chain 3 beta 2 (MAP1LC3B2), mRNA.	77					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						ATGCTAATCAGGCCTTCTTCC	0.448000														164			52		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152738006	152738006	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152738006C>T	uc021zhb.1	-	38	5789	c.5566G>A	c.(5566-5568)Gcc>Acc	p.A1856T	SYNE1_uc003qot.4_Missense_Mutation_p.A1863T|SYNE1_uc003qou.4_Missense_Mutation_p.A1856T|SYNE1_uc010kjb.1_Missense_Mutation_p.A1839T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1856					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACCTGGCTGGCCTCCTCAAAC	0.602000										HNSCC(10;0.0054)				151			32		0	0	1	0	0
C14orf43	91748	broad.mit.edu	37	14	74205659	74205659	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:74205659C>A	uc010tud.1	-	0	1300	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	C14orf43_uc001xot.3_Missense_Mutation_p.K351N|C14orf43_uc001xou.3_Missense_Mutation_p.K351N|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	351	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GGATACCCTCCTTAGAGAGGC	0.682000														102			31		2.95478e-19	3.58478e-19	1	1	0
ALOX12B	242	broad.mit.edu	37	17	7984225	7984225	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7984225C>T	uc002gjy.1	-	3	765	c.504G>A	c.(502-504)agG>agA	p.R168R	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	168	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTTGCGATGCCTCCGCACCG	0.652000										Multiple Myeloma(8;0.094)				256			18		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109644617	109644617	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:109644617G>A	uc001tob.3	+	19	3135	c.3016G>A	c.(3016-3018)Gtc>Atc	p.V1006I	ACACB_uc001toc.3_Missense_Mutation_p.V1006I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1006					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.N1005N(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTCACCAACGTCATGAGTGG	0.537000														192			47		0	0	1	0	0
SHFM1	7979	broad.mit.edu	37	7	96324145	96324145	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:96324145A>G	uc003uoi.3	-	1	263	c.135T>C	c.(133-135)gaT>gaC	p.D45D	SHFM1_uc010lfn.1_Silent_p.D45D	NM_006304	NP_006295	P60896	DSS1_HUMAN	Homo sapiens split hand/foot malformation (ectrodactyly) type 1 (SHFM1), mRNA.	45	Asp/Glu-rich (highly acidic).				proteolysis	proteasome complex	peptidase activity|protein binding	p.D45N(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_cancers(62;4.24e-09)|all_epithelial(64;5.59e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0353)|Lung NSC(181;0.0987)					CTACATTGTCATCATCCCAAT	0.333000								Homologous recombination						88			25		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55713637	55713637	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55713637C>T	uc002qjq.3	-	5	1013	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PTPRH_uc010esv.3_Missense_Mutation_p.A136T|PTPRH_uc002qjs.2_Missense_Mutation_p.A321T	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	314	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTCAGGGCGATGGAGCTG	0.582000														156			31		0	0	1	0	0
CDCA5	113130	broad.mit.edu	37	11	64846905	64846905	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64846905C>T	uc001ocp.2	-	4	763	c.598G>A	c.(598-600)Gcc>Acc	p.A200T		NM_080668	NP_542399	Q96FF9	CDCA5_HUMAN	Homo sapiens cell division cycle associated 5 (CDCA5), mRNA.	200					G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin	cytoplasm|nuclear chromatin|plasma membrane	chromatin binding|identical protein binding	p.A200V(1)		large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ATGTCTGGGGCCCAGGGCTTT	0.577000														111			27		0	0	1	0	0
FAM175A	84142	broad.mit.edu	37	4	84390218	84390218	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:84390218G>A	uc003hou.2	-	5	628	c.563C>T	c.(562-564)tCc>tTc	p.S188F	FAM175A_uc003hot.2_Missense_Mutation_p.S16F|FAM175A_uc003hov.2_Missense_Mutation_p.S79F	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	188					G2/M transition DNA damage checkpoint|chromatin modification|double-strand break repair|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	p.S188S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						AAAACCAGTGGACATACAGGA	0.363000														167			45		0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101295607	101295607	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101295607T>G	uc010svm.1	+	1	616	c.44T>G	c.(43-45)gTc>gGc	p.V15G	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.V15G|ANO4_uc001thx.2_Missense_Mutation_p.V15G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	15						chloride channel complex	chloride channel activity	p.V15D(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AAAACCAAAGTCTTCCACCCA	0.468000										HNSCC(74;0.22)				183			38		0	0	1	0	0
SLC16A1	6566	broad.mit.edu	37	1	113471841	113471841	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:113471841G>A	uc001ecx.3	-	1	922	c.90C>T	c.(88-90)atC>atT	p.I30I	SLC16A1_uc001ecy.3_Silent_p.I30I|SLC16A1_uc001ecz.3_Silent_p.I30I	NM_001166496	NP_003042	P53985	MOT1_HUMAN	Homo sapiens solute carrier family 16, member 1 (monocarboxylic acid transporter 1) (SLC16A1), transcript variant 2, mRNA.	30					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	AAGAGAAGCCGATGGAAATGA	0.478000														76			7		0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34319920	34319920	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:34319920C>T	uc002xeb.3	-	3	648	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	RBM39_uc002xdz.3_Missense_Mutation_p.R56Q|RBM39_uc010gfn.3_5'UTR|RBM39_uc002xef.3_5'UTR|RBM39_uc010zvn.2_5'UTR|RBM39_uc002xec.3_Missense_Mutation_p.R80Q|RBM39_uc010zvm.2_Missense_Mutation_p.R80Q|RBM39_uc002xeg.3_Missense_Mutation_p.R80Q|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	80	Arg/Ser-rich (RS domain).				RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GCGGCTCCGTCGCCTCTCTTT	0.433000														238			58		0	0	1	0	0
P2RY1	5028	broad.mit.edu	37	3	152554367	152554367	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152554367C>A	uc003ezq.3	+	0	1632	c.796C>A	c.(796-798)Ctg>Atg	p.L266M		NM_002563	NP_002554	P47900	P2RY1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 1 (P2RY1), mRNA.	266					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AATCATTGTACTGACTGTTTT	0.423000														117			22		3.62473e-10	4.06567e-10	1	1	0
LRRC16A	55604	broad.mit.edu	37	6	25488745	25488745	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25488745C>T	uc011djw.2	+	12	1365	c.997C>T	c.(997-999)Cca>Tca	p.P333S	LRRC16A_uc010jpy.3_Missense_Mutation_p.P333S	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	333					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAGTGCCAATCCATTGACCGC	0.468000														197			41		0	0	1	0	0
UNC13B	10497	broad.mit.edu	37	9	35403836	35403836	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35403836C>T	uc003zwr.3	+	39	4931	c.4639C>T	c.(4639-4641)Ctg>Ttg	p.L1547L	UNC13B_uc003zwq.3_Silent_p.L1528L|ATP8B5P_uc010mko.3_5'Flank|ATP8B5P_uc010mkp.3_5'Flank|ATP8B5P_uc010mkn.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1528					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CGTGCTAGGGCTGGCTGTGAT	0.587000														138			17		0	0	1	0	0
TTC8	123016	broad.mit.edu	37	14	89307480	89307480	+	Missense_Mutation	SNP	A	C	C	rs141439453	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89307480A>C	uc010ath.3	+	3	533	c.399A>C	c.(397-399)agA>agC	p.R133S	TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.R143S|TTC8_uc001xxj.3_Missense_Mutation_p.R133S|TTC8_uc001xxk.3_Missense_Mutation_p.R133S|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_5'UTR|TTC8_uc010atj.3_Intron	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	143					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GAACACCCAGAACCGCCTACA	0.532000														124			9		0	0	1	0	0
CPNE2	221184	broad.mit.edu	37	16	57149461	57149461	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57149461C>T	uc010cct.2	+	5	860	c.513_splice	c.e5+1	p.T171_splice	CPNE2_uc002eks.2_Splice_Site_p.T145_splice|CPNE2_uc010ccu.2_Splice_Site_p.T145_splice	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	145	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GGCTTGATTACGGTACCAGTC	0.607000														83			17		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47868868	47868868	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47868868G>T	uc003cru.3	+	4	582	c.156G>T	c.(154-156)caG>caT	p.Q52H	DHX30_uc003crs.2_Missense_Mutation_p.Q13H|DHX30_uc003crt.3_Missense_Mutation_p.Q13H|DHX30_uc010hjr.1_Missense_Mutation_p.Q80H	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	52						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		AGTTCCCACAGCCCAAAAATC	0.398000														112			11		2.80697e-09	3.10977e-09	1	1	0
SLC35A4	113829	broad.mit.edu	37	5	139947326	139947326	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139947326T>C	uc003lgg.1	+	2	1300	c.572T>C	c.(571-573)cTc>cCc	p.L191P	SLC35A4_uc003lgh.1_Missense_Mutation_p.L191P|SLC35A4_uc021yei.1_Missense_Mutation_p.L191P	NM_080670	NP_542401	Q96G79	S35A4_HUMAN	Homo sapiens solute carrier family 35, member A4 (SLC35A4), mRNA.	191	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTGCTGCTCCTCATTCTG	0.612000														236			55		0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8953039	8953039	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:8953039C>T	uc002czh.1	-	1	497	c.147G>A	c.(145-147)agG>agA	p.R49R	CARHSP1_uc002czi.1_Silent_p.R49R	NM_001042476	NP_055131	Q9Y2V2	CHSP1_HUMAN	Homo sapiens calcium regulated heat stable protein 1, 24kDa (CARHSP1), transcript variant 2, mRNA.	49					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	P granule|cytoplasmic mRNA processing body|cytosol	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						CCGAGAAGGTCCTCGTCCGGC	0.642000														55			9		0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95560313	95560313	+	Missense_Mutation	SNP	T	C	C	rs144259142		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:95560313T>C	uc001ydw.2	-	24	5488	c.5276A>G	c.(5275-5277)aAa>aGa	p.K1759R	DICER1_uc010avh.1_Missense_Mutation_p.K657R|DICER1_uc021sbc.1_Missense_Mutation_p.K1759R|DICER1_uc001ydv.2_Missense_Mutation_p.K1749R|DICER1_uc001ydx.2_Missense_Mutation_p.K1759R	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1759	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.F1758V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGAGACAGCTTTGAAGTACTT	0.493000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					171			45		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79034343	79034343	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79034343C>A	uc003kgc.3	+	1	9827	c.9755C>A	c.(9754-9756)tCt>tAt	p.S3252Y		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3252						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CATGACACATCTCTAACTCAA	0.423000														70			8		0.000442599	0.000455268	1	1	0
MTHFR	4524	broad.mit.edu	37	1	11863151	11863151	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11863151T>C	uc001atb.1	-	0	290	c.92A>G	c.(91-93)aAc>aGc	p.N31S	MTHFR_uc001atc.2_Missense_Mutation_p.N8S|MTHFR_uc001atd.1_Non-coding_Transcript|MTHFR_uc009vnd.1_Non-coding_Transcript	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	8					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GAGGCTGCTGTTTCCTCTGGC	0.632000														37			5		0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114414173	114414173	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114414173C>T	uc001eds.3	-	0	203	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	LOC100287722_uc001edv.1_Intron|PTPN22_uc021orx.1_Missense_Mutation_p.A25T|PTPN22_uc009wgq.3_Missense_Mutation_p.A25T|PTPN22_uc021ory.1_Missense_Mutation_p.A25T|PTPN22_uc010owo.2_5'UTR|PTPN22_uc001edt.3_Missense_Mutation_p.A25T|PTPN22_uc009wgr.2_Missense_Mutation_p.A25T|PTPN22_uc009wgs.2_Missense_Mutation_p.A25T|PTPN22_uc001edu.2_Missense_Mutation_p.A25T	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	25	Tyrosine-protein phosphatase.				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTCATTGGCAAACTCCTCT	0.413000														82			22		0	0	1	0	0
RBL1	5933	broad.mit.edu	37	20	35696435	35696435	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:35696435T>G	uc002xgi.3	-	2	524	c.445A>C	c.(445-447)Aat>Cat	p.N149H	RBL1_uc002xgj.1_Missense_Mutation_p.N149H|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	149					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCATATGGATTTTGAAATATA	0.328000														69			20		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82545765	82545765	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:82545765C>T	uc003uhx.2	-	6	11826	c.11537G>A	c.(11536-11538)cGa>cAa	p.R3846Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3846Q|PCLO_uc010lec.3_Missense_Mutation_p.R811Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3777	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTTCTATTCGGGTTGGTCT	0.458000														263			65		0	0	1	0	0
IFI16	3428	broad.mit.edu	37	1	158984471	158984471	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158984471A>G	uc001ftg.3	+	1	291	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	IFI16_uc010pis.2_Missense_Mutation_p.M1V|IFI16_uc010pit.2_Missense_Mutation_p.M1V|IFI16_uc001ftf.1_Missense_Mutation_p.M1V	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	1	DAPIN.|Lys-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GTCTGTAAAGATGGGAAAAAA	0.328000														60			19		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29842323	29842323	+	Missense_Mutation	SNP	C	T	T	rs146114293	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29842323C>T	uc002dui.3	+	2	402	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.2_Non-coding_Transcript|MVP_uc010vdz.2_Intron|MVP_uc002duj.3_Missense_Mutation_p.R84C|MVP_uc010vea.2_5'UTR	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	84					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AGTTCGGCTTCGCCACGCTGA	0.632000														84			20		0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156746871	156746871	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:156746871C>T	uc021ygm.1	+	13	1593	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	CYFIP2_uc011ddn.2_Silent_p.F460F|CYFIP2_uc011ddo.2_Silent_p.F290F|CYFIP2_uc021ygn.1_Silent_p.F485F|CYFIP2_uc021ygo.1_Silent_p.F485F|CYFIP2_uc003lwt.3_Silent_p.F364F|CYFIP2_uc011ddp.2_Silent_p.F220F	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	486					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCAGGACTTCGCCCAGGTGA	0.572000														303			58		0	0	1	0	0
ITGA1	3672	broad.mit.edu	37	5	52160617	52160617	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52160617G>A	uc003jou.3	+	3	730	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	106					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AATTCCCAATGTCACAGAAGT	0.318000														32			7		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62460657	62460657	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:62460657T>G	uc003xuj.3	-	20	2006	c.1737A>C	c.(1735-1737)aaA>aaC	p.K579N	ASPH_uc011leg.2_Missense_Mutation_p.K550N	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	579					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	AGCCCGTTTCTTTTGGGGTCC	0.433000														149			41		0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151771975	151771975	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151771975A>C	uc003luv.2	-	3	1191	c.1025T>G	c.(1024-1026)aTc>aGc	p.I342S		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	342					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAAGAAGAGATCACATTCTG	0.527000														190			41		0	0	1	0	0
SLC44A4	80736	broad.mit.edu	37	6	31832662	31832662	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31832662G>A	uc010jti.3	-	18	1923	c.1857C>T	c.(1855-1857)tcC>tcT	p.S619S	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Silent_p.S543S|SLC44A4_uc011dom.2_Silent_p.S577S	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	619						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGATGCGACCGGAGAAAAAAA	0.572000														65			19		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040557	67040557	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:67040557C>T	uc003xvv.3	+	1	413	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	TRIM55_uc003xvu.3_Missense_Mutation_p.P63S|TRIM55_uc003xvw.3_Missense_Mutation_p.P63S|TRIM55_uc003xvx.3_Missense_Mutation_p.P63S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	63						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCGTATTTGCCCACAAGAGG	0.478000														184			41		0	0	1	0	0
C1QC	714	broad.mit.edu	37	1	22973781	22973781	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:22973781C>T	uc001bgc.4	+	2	346	c.243C>T	c.(241-243)ccC>ccT	p.P81P	C1QC_uc001bga.4_Silent_p.P81P	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	81	Collagen-like.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		p.P81P(2)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632000														122			11		0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29638197	29638197	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:29638197G>A	uc001bru.3	+	21	3157	c.3028G>A	c.(3028-3030)Ggg>Agg	p.G1010R	PTPRU_uc009vtq.3_Missense_Mutation_p.G1006R|PTPRU_uc009vtr.3_Missense_Mutation_p.G997R|PTPRU_uc001brw.3_Missense_Mutation_p.G1000R	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	1010	Tyrosine-protein phosphatase 1.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1010W(2)|p.G1006W(2)		breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGACACCTACGGGGACATCAA	0.602000														235			54		0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100404186	100404186	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100404186G>A	uc001ygr.3	+	20	2254	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	EML1_uc010tww.2_Missense_Mutation_p.V698M|EML1_uc001ygs.3_Missense_Mutation_p.V710M	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	710						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AGTCGTAAGTGTGGAAACTAC	0.483000														175			32		0	0	1	0	0
DCPS	28960	broad.mit.edu	37	11	126215338	126215338	+	Missense_Mutation	SNP	G	A	A	rs35029167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:126215338G>A	uc001qdp.3	+	5	1173	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	FLJ39051_uc001qdq.2_Intron	NM_014026	NP_054745	Q96C86	DCPS_HUMAN	Homo sapiens decapping enzyme, scavenger (DCPS), mRNA.	282					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)		GCACTTCACCGCCCTGGGCTT	0.632000														257			54		0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495095	33495095	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:33495095C>A	uc002hja.3	+	9	1264	c.1167C>A	c.(1165-1167)ccC>ccA	p.P389P	UNC45B_uc002hjb.3_Silent_p.P389P|UNC45B_uc002hjc.3_Silent_p.P389P|UNC45B_uc010cto.3_Silent_p.P389P	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	389					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGTTTGACCCCCAGGACATGG	0.517000														114			18		2.5808e-16	3.07748e-16	1	1	0
DVL2	1856	broad.mit.edu	37	17	7130980	7130980	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7130980G>A	uc002gez.1	-	10	1507	c.1225C>T	c.(1225-1227)Cct>Tct	p.P409S	DVL2_uc010vtr.1_Missense_Mutation_p.P403S	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	409					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCACCATCAGGCAAAGACGAT	0.612000														65			25		0	0	1	0	0
CST9L	128821	broad.mit.edu	37	20	23549084	23549084	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:23549084G>T	uc002wtk.4	-	0	303	c.4C>A	c.(4-6)Ctg>Atg	p.L2M		NM_080610	NP_542177	Q9H4G1	CST9L_HUMAN	Homo sapiens cystatin 9-like (CST9L), mRNA.	2						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGCAGGCCCAGCATGGTGCTG	0.577000														55			4		2.56e-06	2.71868e-06	1	1	0
SDK1	221935	broad.mit.edu	37	7	4002385	4002385	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:4002385G>A	uc003smx.3	+	8	1470	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	444	Ig-like C2-type 4.				cell adhesion	integral to membrane		p.R444H(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGAGGCCTGCGCATCCAGAAG	0.592000														55			9		0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10434065	10434065	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10434065C>T	uc002moa.3	-	3	1065	c.985G>A	c.(985-987)Gct>Act	p.A329T		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	312	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			GCCTGGGCAGCGATGAGAGCG	0.721000														66			11		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521670	131521670	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:131521670C>T	uc021voy.1	+	0	2025	c.2025C>T	c.(2023-2025)ggC>ggT	p.G675G	FAM123C_uc002trw.2_Silent_p.G675G|FAM123C_uc010fmv.2_Silent_p.G675G|FAM123C_uc010fms.1_Silent_p.G675G|FAM123C_uc010fmt.1_Silent_p.G675G|FAM123C_uc010fmu.1_Silent_p.G675G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	675										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TGCTGGCAGGCTGTGTGGCCC	0.657000														44			6		0	0	1	0	0
ZNF846	162993	broad.mit.edu	37	19	9869139	9869139	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9869139C>A	uc002mmb.1	-	5	1145	c.614G>T	c.(613-615)aGa>aTa	p.R205I	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Missense_Mutation_p.R76I|ZNF846_uc002mmc.1_Missense_Mutation_p.R76I	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W204C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGAAAAGTTCTCCAACAGTC	0.358000														89			17		9.16793e-09	1.00855e-08	1	1	0
SPNS1	83985	broad.mit.edu	37	16	28995175	28995175	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28995175G>A	uc010vdi.1	+	11	1529	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Silent_p.S390S|SPNS1_uc002dsa.2_Silent_p.S463S|SPNS1_uc002drz.2_Silent_p.S411S|SPNS1_uc010byp.2_Silent_p.S389S|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	463					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TGCAGTTCTCGCTCATGCTCT	0.667000														263			54		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150710326	150710326	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150710326G>T	uc003wif.3	+	24	3410	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	NOS3_uc011kuy.2_Missense_Mutation_p.Q832H|ATG9B_uc003wig.4_Non-coding_Transcript|ATG9B_uc011kvc.2_3'UTR	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	1038					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CAGGGCTGCAGCCCACTCCCA	0.672000											OREG0018443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		220			39		2.87052e-16	3.42015e-16	1	1	0
NAT2	10	broad.mit.edu	37	8	18258174	18258174	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18258174T>G	uc022asl.1	+	0	661	c.661T>G	c.(661-663)Tca>Gca	p.S221A	NAT2_uc003wyw.1_Missense_Mutation_p.S221A	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	221					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TATAACCACATCATTTTGTTC	0.368000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of					98			14		0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102818144	102818144	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:102818144C>T	uc002tbs.3	+	4	744	c.618C>T	c.(616-618)taC>taT	p.Y206Y	IL1RL2_uc002tbt.3_Silent_p.Y89Y	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	206	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.Q205Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGAAGCAGTACGAGGTTTTAA	0.478000														68			17		0	0	1	0	0
SYN3	8224	broad.mit.edu	37	22	33265005	33265005	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:33265005G>T	uc003amx.3	-	3	731	c.569C>A	c.(568-570)cCt>cAt	p.P190H	SYN3_uc003amy.3_Missense_Mutation_p.P190H|SYN3_uc003amz.3_Missense_Mutation_p.P189H	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	190	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.P190A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GTTGACAGCAGGCAGCCCTCC	0.607000														79			12		4.3838e-07	4.70703e-07	1	1	0
OR1M1	125963	broad.mit.edu	37	19	9204616	9204616	+	Silent	SNP	C	T	T	rs142350139		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9204616C>T	uc010xkj.2	+	0	696	c.696C>T	c.(694-696)ggC>ggT	p.G232G		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTCTGCAGGCGGCAGGAAGA	0.582000														222			43		0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405851	68405851	+	Silent	SNP	C	T	T	rs147838351		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68405851C>T	uc002ewa.3	-	2	656	c.234G>A	c.(232-234)gcG>gcA	p.A78A	SMPD3_uc010cfe.3_Silent_p.A78A|SMPD3_uc010vlh.2_Silent_p.A78A	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	78					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	AGCCGAGAAACGCAAAGGGCA	0.672000														38			8		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13370400	13370400	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13370400A>G	uc002mwy.3	-	26	4602	c.4366T>C	c.(4366-4368)Tcc>Ccc	p.S1456P	CACNA1A_uc002mwx.3_Missense_Mutation_p.S162P|CACNA1A_uc010dzc.2_Missense_Mutation_p.S982P|CACNA1A_uc010xnd.2_Missense_Mutation_p.S1459P|CACNA1A_uc021ups.1_Missense_Mutation_p.S1456P|CACNA1A_uc010xne.2_Missense_Mutation_p.S1459P|CACNA1A_uc010dze.2_Missense_Mutation_p.S1456P|CACNA1A_uc021upt.1_Missense_Mutation_p.S1457P	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1457			V -> L (in FHM1; dbSNP:rs121908237).		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)	TCTCCCGTGGACACGGTGAAG	0.552000														21			6		0	0	1	0	0
ALPK1	80216	broad.mit.edu	37	4	113352781	113352781	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113352781G>A	uc003ian.4	+	10	2305	c.2078G>A	c.(2077-2079)gGa>gAa	p.G693E	ALPK1_uc003iap.4_Missense_Mutation_p.G693E|ALPK1_uc011cfx.2_Missense_Mutation_p.G615E|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.G521E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	693							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTTCTAGAAGGAGCTCCAGAA	0.498000														93			17		0	0	1	0	0
OR8D2	283160	broad.mit.edu	37	11	124190029	124190029	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:124190029T>C	uc010sah.2	-	0	65	c.65A>G	c.(64-66)gAa>gGa	p.E22G		NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 2 (OR8D2), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		CAGTTGAAGTTCTGGGCGTTG	0.438000														140			36		0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043515	56043515	+	Missense_Mutation	SNP	G	A	A	rs140678740		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56043515G>A	uc001nio.1	+	0	401	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413000														262			37		0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61777910	61777910	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:61777910G>A	uc003xue.3	+	37	8904	c.8412G>A	c.(8410-8412)gcG>gcA	p.A2804A	CHD7_uc022aux.1_Silent_p.A755A	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2804					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)			CAGGAATGGCGGGCCTGCCCA	0.607000														51			4		0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44867540	44867540	+	Silent	SNP	C	T	T	rs146760782		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44867540C>T	uc003cnx.4	+	20	2708	c.2559C>T	c.(2557-2559)aaC>aaT	p.N853N	KIF15_uc010hiq.3_Silent_p.N756N|KIF15_uc010hir.3_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	853					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GGTTAGAAAACGAAAAGCTGC	0.308000														71			12		0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460674	106460674	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:106460674C>T	uc001tlj.1	-	6	3272	c.1892G>A	c.(1891-1893)cGg>cAg	p.R631Q		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	631							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GTCTGCCAGCCGGTTCCGGTA	0.582000														204			43		0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442730	116442730	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116442730A>G	uc003pwm.3	-	2	645	c.549T>C	c.(547-549)ggT>ggC	p.G183G	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	183	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GTCCATTCATACCAGGGACTC	0.592000														97			22		0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7229879	7229879	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7229879G>T	uc003mxb.3	+	9	2039	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	RREB1_uc021yky.1_Missense_Mutation_p.R516L|RREB1_uc003mxc.3_Missense_Mutation_p.R516L|RREB1_uc010jnx.3_Missense_Mutation_p.R516L|RREB1_uc021ykz.1_Missense_Mutation_p.R516L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	516	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GTCACACCACGGACGGTGGTG	0.677000														564			21		1.2644e-06	1.3491e-06	1	1	0
C5orf45	51149	broad.mit.edu	37	5	179269014	179269014	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179269014G>A	uc003mla.3	-	4	386	c.342C>T	c.(340-342)gaC>gaT	p.D114D	C5orf45_uc003mky.2_Silent_p.D111D|C5orf45_uc011dgt.1_Silent_p.D114D|C5orf45_uc011dgu.1_Silent_p.D59D|C5orf45_uc003mlc.3_Silent_p.D59D|C5orf45_uc003mlb.3_5'UTR|C5orf45_uc021yjh.1_5'Flank	NM_016175	NP_057259	Q6NTE8	CE045_HUMAN	Homo sapiens chromosome 5 open reading frame 45 (C5orf45), transcript variant 1, mRNA.	114										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GTTCTTGGGAGTCCTTTTCTA	0.498000														637			138		0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151161984	151161984	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:151161984G>T	uc011eem.1	+	15	4375	c.4287G>T	c.(4285-4287)caG>caT	p.Q1429H	PLEKHG1_uc003qny.1_Missense_Mutation_p.Q1370H	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	1370					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATATTGTCCAGTCTCTAAGGG	0.373000														120			26		1.12875e-08	1.24115e-08	1	1	0
CSF1	1435	broad.mit.edu	37	1	110466000	110466000	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110466000C>T	uc001dyu.2	+	5	1170	c.757C>T	c.(757-759)Cca>Tca	p.P253S	CSF1_uc001dyt.2_Missense_Mutation_p.P253S|CSF1_uc021ori.1_Intron|CSF1_uc001dyw.4_Missense_Mutation_p.P253S|CSF1_uc021orj.1_Intron	NM_172212	NP_757351	P09603	CSF1_HUMAN	Homo sapiens colony stimulating factor 1 (macrophage) (CSF1), transcript variant 4, mRNA.	253					cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			breast(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAAGCAGCGGCCACCCAGGAG	0.652000											OREG0013645	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		137			27		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449450	91449450	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91449450G>A	uc001tbl.3	-	1	1228	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	203					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TATTCCTCAGGGCATTCTTGG	0.368000														163			35		0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151163109	151163109	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:151163109C>T	uc011bod.2	-	3	4660	c.4660G>A	c.(4660-4662)Gca>Aca	p.A1554T		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1554					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTTGTTAGTGCTGGCATGGGA	0.413000														227			45		0	0	1	0	0
ACAD9	28976	broad.mit.edu	37	3	128621399	128621399	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128621399G>A	uc003ela.4	+	8	1088	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	ACAD9_uc010hsw.1_Missense_Mutation_p.A173T|ACAD9_uc011bks.2_Missense_Mutation_p.A173T|ACAD9_uc003elb.3_Missense_Mutation_p.A173T|ACAD9_uc003elc.1_Missense_Mutation_p.A114T|ACAD9_uc003ele.3_5'Flank	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	296						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						CCTGCAGGTGGCCATGAACAT	0.607000														134			23		0	0	1	0	0
KIAA1009	22832	broad.mit.edu	37	6	84870536	84870536	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:84870536G>A	uc010kbp.3	-	20	2873	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	KIAA1009_uc003pkj.4_Nonsense_Mutation_p.R850*|KIAA1009_uc003pki.4_Nonsense_Mutation_p.R312*	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	926					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CATACTTGTCGCTCCAGATCC	0.373000														78			5		0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42907813	42907813	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42907813T>A	uc010zwl.2	+	5	1101	c.1034T>A	c.(1033-1035)gTc>gAc	p.V345D	GDAP1L1_uc002xlq.3_Missense_Mutation_p.V326D|GDAP1L1_uc010zwm.2_Missense_Mutation_p.V268D|GDAP1L1_uc010zwn.2_Missense_Mutation_p.V134D	NM_024034	NP_076939	Q96MZ0	GD1L1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1-like 1 (GDAP1L1), mRNA.	326								p.A344A(1)		endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGTCGGCCGTCATCCCCAAT	0.612000														256			80		0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40001975	40001975	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40001975G>A	uc010cxr.3	+	2	1424	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	KLHL10_uc010wfv.1_Missense_Mutation_p.A422T|KLHL10_uc010wfw.2_Missense_Mutation_p.A340T	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498000														78			22		0	0	1	0	0
C16orf59	80178	broad.mit.edu	37	16	2510970	2510970	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2510970C>T	uc002cqh.3	+	3	381	c.350C>T	c.(349-351)aCg>aTg	p.T117M	C16orf59_uc002cqg.2_5'UTR|C16orf59_uc002cqi.3_5'UTR|C16orf59_uc010uwb.2_5'UTR	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	117										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TCTTCTGGCACGACAGCCTCC	0.617000														153			40		0	0	1	0	0
OGFOD2	79676	broad.mit.edu	37	12	123463481	123463481	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:123463481A>C	uc001uea.1	+	5	734	c.713A>C	c.(712-714)aAt>aCt	p.N238T	OGFOD2_uc001uds.1_Missense_Mutation_p.N74T|OGFOD2_uc001udv.1_Missense_Mutation_p.N74T|OGFOD2_uc001udt.1_Missense_Mutation_p.N74T|OGFOD2_uc001udu.1_Missense_Mutation_p.N74T|OGFOD2_uc009zxs.1_Missense_Mutation_p.N74T|OGFOD2_uc001udw.1_Missense_Mutation_p.N74T|OGFOD2_uc001udy.1_Missense_Mutation_p.N74T|OGFOD2_uc001udz.1_Missense_Mutation_p.N178T|OGFOD2_uc001ueb.1_Missense_Mutation_p.N74T|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank	NM_024623	NP_078899	Q6N063	OGFD2_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA.	238	Fe2OG dioxygenase.						L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CACTATGATAATGCCGAGCTC	0.632000														103			22		0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186358424	186358424	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:186358424G>C	uc010hyq.3	+	1	436	c.175G>C	c.(175-177)Ggc>Cgc	p.G59R	FETUB_uc011brz.2_Intron|FETUB_uc003fqn.3_Missense_Mutation_p.G59R|FETUB_uc010hyr.3_Missense_Mutation_p.G59R|FETUB_uc010hys.3_5'UTR|FETUB_uc003fqp.4_Missense_Mutation_p.G59R	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	59	Cystatin fetuin-B-type 1.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAGAAAGGATGGCTATGTGCT	0.577000														377			84		0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37882024	37882024	+	Missense_Mutation	SNP	G	T	T	rs138957632	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37882024G>T	uc002hso.3	+	22	3028	c.2790G>T	c.(2788-2790)gaG>gaT	p.E930D	ERBB2_uc010cwa.3_Missense_Mutation_p.E915D|ERBB2_uc002hsm.3_Missense_Mutation_p.E900D|ERBB2_uc002hsp.3_Missense_Mutation_p.E733D|ERBB2_uc010cwb.3_Missense_Mutation_p.E930D|ERBB2_uc010wek.2_Missense_Mutation_p.E654D|MIR4728_uc021twt.1_5'Flank	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	930	Protein kinase.				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CAGCCCGGGAGATCCCTGACC	0.592000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)				101			29		4.22769e-11	4.79992e-11	1	1	0
OR5B12	390191	broad.mit.edu	37	11	58207122	58207122	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58207122C>A	uc010rkh.2	-	0	525	c.503G>T	c.(502-504)aGa>aTa	p.R168I		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TACATTGGATCTACAGAAGGA	0.428000														113			23		1.55795e-14	1.83136e-14	1	1	0
GRM3	2913	broad.mit.edu	37	7	86468560	86468560	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:86468560C>T	uc003uid.3	+	3	2829	c.1730C>T	c.(1729-1731)gCc>gTc	p.A577V	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.A449V|GRM3_uc010leh.3_Missense_Mutation_p.A169V	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	577					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GACGCCTGGGCCATTGGCCCA	0.498000														127			34		0	0	1	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075278	106075278	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:106075278G>T	uc001kyf.3	-	2	985	c.532C>A	c.(532-534)Ctc>Atc	p.L178I	ITPRIP_uc001kye.3_Missense_Mutation_p.L178I|ITPRIP_uc001kyg.3_Missense_Mutation_p.L178I|ITPRIP_uc021pxv.1_Missense_Mutation_p.L178I	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	178						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CGGTTGCAGAGGCTCCTCAGG	0.612000														200			42		4.67007e-22	5.74789e-22	1	1	0
PALM	5064	broad.mit.edu	37	19	746669	746669	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:746669C>A	uc002lpm.1	+	8	1213	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	PALM_uc002lpn.1_Missense_Mutation_p.P296H|PALM_uc010xfu.1_Missense_Mutation_p.P205H	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	340					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCCAAGGAGCCTGCACCACCC	0.667000														48			14		7.93312e-07	8.47869e-07	1	1	0
UFC1	51506	broad.mit.edu	37	1	161123792	161123792	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:161123792C>T	uc001fyd.4	+	0	259	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_016406	NP_057490	Q9Y3C8	UFC1_HUMAN	Homo sapiens ubiquitin-fold modifier conjugating enzyme 1 (UFC1), mRNA.	2					protein ufmylation		UFM1 conjugating enzyme activity|protein binding			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCAAGATGGCGGATGAAGCC	0.567000														126			28		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898652	175898652	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:175898652G>T	uc003iuc.3	+	4	2646	c.1976G>T	c.(1975-1977)gGa>gTa	p.G659V	ADAM29_uc003iud.3_Missense_Mutation_p.G659V|ADAM29_uc010irr.3_Missense_Mutation_p.G659V|ADAM29_uc011cki.2_Missense_Mutation_p.G659V|ADAM29_uc021xuo.1_Missense_Mutation_p.G659V	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	659					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAGGCTATGGAGGTAGTGTT	0.398000														90			7		0.000157383	0.000162836	1	1	0
PAPPA	5069	broad.mit.edu	37	9	119158838	119158838	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119158838G>A	uc004bjn.3	+	21	5208	c.4827G>A	c.(4825-4827)cgG>cgA	p.R1609R	PAPPA_uc011lxq.2_Silent_p.R984R	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1609					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGCTTGTCGGGACCCCCAGG	0.517000														230			31		0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38105386	38105386	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:38105386T>A	uc003chp.1	+	5	1170	c.1149T>A	c.(1147-1149)gaT>gaA	p.D383E	DLEC1_uc003cho.1_Missense_Mutation_p.D383E|DLEC1_uc010hgv.1_Missense_Mutation_p.D383E|DLEC1_uc010hgw.1_Missense_Mutation_p.D82E|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	383					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TTTTCACAGATTATGAAATTG	0.378000														147			42		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9776551	9776551	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9776551C>T	uc001aqe.4	+	4	862	c.654C>T	c.(652-654)gcC>gcT	p.A218A	PIK3CD_uc001aqb.4_Silent_p.A218A|PIK3CD_uc010oaf.2_Silent_p.A218A|PIK3CD_uc021ogb.1_Silent_p.A2A	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	218					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CGCTGATGGCCTGTGCCCTGC	0.657000														100			8		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1626412	1626412	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1626412C>T	uc003wpl.3	+	8	2178	c.2081C>T	c.(2080-2082)aCg>aTg	p.T694M	DLGAP2_uc003wpm.3_Missense_Mutation_p.T680M	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	773					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AACAGCGTCACGGCCGCCGTC	0.562000														132			24		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30255204	30255204	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:30255204G>A	uc001msl.3	+	2	316	c.247G>A	c.(247-249)Ggc>Agc	p.G83S	FSHB_uc001msm.3_Missense_Mutation_p.G83S|FSHB_uc001msn.3_Missense_Mutation_p.G83S	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	83					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	p.P82H(2)|p.G83S(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	GAGAGTGCCCGGCTGTGCTCA	0.507000														98			19		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756575	94756575	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94756575G>A	uc001yct.3	-	1	822	c.356C>T	c.(355-357)cCg>cTg	p.P119L	SERPINA10_uc001ycu.4_Missense_Mutation_p.P119L	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.	119					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTTTCAGTCGGCCCTGTGGC	0.587000														113			24		0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39919402	39919402	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39919402G>A	uc002hxq.2	-	7	1607	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R444C|JUP_uc002hxs.2_Missense_Mutation_p.R444C	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	444					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACCAGCACGCAGGATGGCA	0.612000														124			27		0	0	1	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370581	26370581	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26370581G>T	uc010jqh.2	+	4	724	c.465G>T	c.(463-465)aaG>aaT	p.K155N	BTN3A2_uc003nhp.3_Missense_Mutation_p.K155N|BTN3A2_uc011dkd.2_Missense_Mutation_p.K113N|BTN3A2_uc011dke.2_Missense_Mutation_p.K132N|BTN3A2_uc010jqi.2_Missense_Mutation_p.K155N	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	155						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TCGAAGTGAAGGGTTATGAGG	0.512000														135			18		6.49762e-13	7.53005e-13	1	1	0
VAV1	7409	broad.mit.edu	37	19	6828892	6828892	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6828892C>T	uc002mfu.1	+	12	1343	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	VAV1_uc010xjh.1_Missense_Mutation_p.R384W|VAV1_uc010dva.1_Missense_Mutation_p.R416W|VAV1_uc002mfv.1_Missense_Mutation_p.R361W	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	416	PH.				T cell costimulation|apoptosis|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|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R416R(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTCGGTGGAACGGCGCTCCAA	0.612000														116			19		0	0	1	0	0
DVL1	1855	broad.mit.edu	37	1	1271751	1271751	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1271751G>A	uc001aer.4	-	14	1831	c.1784C>T	c.(1783-1785)cCg>cTg	p.P595L	DVL1_uc009vka.3_Missense_Mutation_p.P278L|DVL1_uc002quu.3_Missense_Mutation_p.P337L|DVL1_uc001aeu.1_3'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	620					Wnt receptor signaling pathway, planar cell polarity pathway|canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGCCGGCCGGACGCTCTCG	0.731000														55			11		0	0	1	0	0
ARPC5	10092	broad.mit.edu	37	1	183604754	183604754	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:183604754A>G	uc001gql.3	-	0	232	c.41T>C	c.(40-42)gTg>gCg	p.V14A	RGL1_uc010pof.1_5'Flank|RGL1_uc001gqm.3_5'Flank|RGL1_uc010pog.2_5'Flank|RGL1_uc010poh.2_5'Flank|ARPC5_uc021pgb.1_5'Flank	NM_005717	NP_005708	O15511	ARPC5_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 5, 16kDa (ARPC5), mRNA.	14					actin cytoskeleton organization|cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|structural constituent of cytoskeleton			cervix(1)|large_intestine(1)|lung(2)	4						ATCCACGTCCACCTTCCGGAA	0.632000														151			26		0	0	1	0	0
SOGA2	23255	broad.mit.edu	37	18	8813213	8813213	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8813213C>T	uc002knr.2	+	11	2983	c.2841C>T	c.(2839-2841)ttC>ttT	p.F947F	SOGA2_uc002knq.2_Silent_p.F906F|SOGA2_uc002kns.2_Silent_p.F315F	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	1257																	AGAAGGAATTCTTGTGGAGGA	0.567000														38			8		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125725380	125725380	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125725380G>T	uc003eij.3	-	11	1620	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	SLC41A3_uc003eii.3_3'UTR|SLC41A3_uc003eil.3_3'UTR|SLC41A3_uc003eik.3_Missense_Mutation_p.A429D|SLC41A3_uc011bkh.2_3'UTR	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	465						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		TCTTGGCACAGCAGCAGTGTG	0.507000														69			17		4.75885e-15	5.61893e-15	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21797189	21797189	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:21797189G>A	uc001ber.3	+	3	758	c.408G>A	c.(406-408)gaG>gaA	p.E136E	NBPF3_uc001bes.3_Silent_p.E80E|NBPF3_uc009vqb.3_Silent_p.E136E|NBPF3_uc010odm.2_Silent_p.E66E	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	136						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCACAGAAGAGAAGCTTGCAG	0.542000														136			15		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28602455	28602455	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:28602455C>T	uc002kwj.4	-	6	944	c.789G>A	c.(787-789)ggG>ggA	p.G263G	DSC3_uc002kwi.4_Silent_p.G263G	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	263	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CACAAACCACCCCCACTGTAG	0.388000														91			12		0	0	1	0	0
ODF2	4957	broad.mit.edu	37	9	131262527	131262527	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131262527C>A	uc004bvc.3	+	20	2761	c.2675C>A	c.(2674-2676)cCt>cAt	p.P892H	ODF2_uc004bvb.3_Missense_Mutation_p.P804H|ODF2_uc011mbd.2_Missense_Mutation_p.P828H|ODF2_uc011mbe.2_Missense_Mutation_p.P823H|ODF2_uc004bvd.4_Missense_Mutation_p.P828H|ODF2_uc004bvh.3_Missense_Mutation_p.P234H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	828					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGATCTCCTCCTGCCTGAGGC	0.552000														213			29		5.60225e-13	6.5042e-13	1	1	0
NAV3	89795	broad.mit.edu	37	12	78510602	78510602	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:78510602A>C	uc001syp.3	+	12	2860	c.2687A>C	c.(2686-2688)aAc>aCc	p.N896T	NAV3_uc001syo.3_Missense_Mutation_p.N896T|NAV3_uc010sub.2_Missense_Mutation_p.N396T|NAV3_uc009zsf.3_5'Flank	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	896						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCCTTGATAACATCAGCACT	0.478000										HNSCC(70;0.22)				117			29		0	0	1	0	0
C1orf129	80133	broad.mit.edu	37	1	170965707	170965707	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:170965707T>C	uc010plz.2	+	13	1551	c.1397T>C	c.(1396-1398)aTt>aCt	p.I466T	C1orf129_uc001ghg.3_Missense_Mutation_p.I466T|C1orf129_uc009wvy.3_Missense_Mutation_p.I273T	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	466							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAGGTGGATATTACTCTAATG	0.448000														171			8		0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3646868	3646868	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3646868C>T	uc002fwo.4	-	18	2462	c.2363G>A	c.(2362-2364)aGc>aAc	p.S788N		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	788					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAGCTGGTAGCTGACTTTGAC	0.577000														278			59		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126239005	126239005	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126239005A>G	uc003ifj.4	+	0	1439	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGCAAGTGTACAGAGTGAAC	0.542000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		80			17		0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239180010	239180010	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:239180010A>G	uc002vyc.3	-	5	952	c.715T>C	c.(715-717)Ttc>Ctc	p.F239L	PER2_uc010znv.1_Missense_Mutation_p.F239L|PER2_uc010znw.1_Missense_Mutation_p.F239L|PER2_uc010fyx.1_Missense_Mutation_p.F239L	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	239	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		AAACTGTGGAACACGCCCACA	0.537000														215			46		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45307689	45307689	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:45307689G>A	uc010olf.2	-	1	107	c.95C>T	c.(94-96)gCt>gTt	p.A32V	PTCH2_uc021omv.1_Missense_Mutation_p.A32V|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	32					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCAGAGTGGAGCCTTCAGGCT	0.537000									Basal Cell Nevus syndrome					126			25		0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6976836	6976836	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6976836G>A	uc001qrk.3	+	0	253	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	TPI1_uc010sfo.2_5'Flank	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	36			G -> A (in TPI deficiency).		fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						CAAGGTGCCGGCCGACACCGG	0.716000														42			17		0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117695864	117695864	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:117695864G>T	uc001ehb.3	-	3	678	c.573C>A	c.(571-573)ttC>ttA	p.F191L	VTCN1_uc021osn.1_Missense_Mutation_p.F96L|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.F96L|VTCN1_uc009whf.2_Missense_Mutation_p.F75L	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	191	Ig-like V-type 2.					integral to membrane|plasma membrane		p.F191L(2)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AGACTTCCGAGAAGTTGGCTC	0.517000														141			13		2.27111e-07	2.44751e-07	1	1	0
CDK12	51755	broad.mit.edu	37	17	37618956	37618956	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37618956A>C	uc010cvv.3	+	0	1218	c.632A>C	c.(631-633)aAa>aCa	p.K211T	CDK12_uc010wef.1_Missense_Mutation_p.K211T|CDK12_uc002hrw.4_Missense_Mutation_p.K211T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	211					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAAGTTACAAAACAGTGGAC	0.507000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)				148			26		0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3564588	3564588	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3564588G>T	uc002wim.2	+	16	2898	c.2808G>T	c.(2806-2808)agG>agT	p.R936S	ATRN_uc002wil.2_Missense_Mutation_p.R936S|ATRN_uc021vzz.1_Missense_Mutation_p.R820S	NM_139321	NP_647537	O75882	ATRN_HUMAN	Homo sapiens attractin (ATRN), transcript variant 1, mRNA.	936	PSI 3.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GTGCCTTGAGGACAGCATGTG	0.547000														316			68		1.34159e-35	1.69962e-35	1	1	0
MLL	4297	broad.mit.edu	37	11	118373499	118373499	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118373499G>A	uc001pta.3	+	26	6906	c.6883G>A	c.(6883-6885)Gac>Aac	p.D2295N	MLL_uc001ptb.3_Missense_Mutation_p.D2298N	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2295					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGTGCTTCAGACTTGGTGTC	0.448000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									124			22		0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15948254	15948254	+	Missense_Mutation	SNP	C	T	T	rs150223084		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:15948254C>T	uc002wou.3	+	12	1228	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	MACROD2_uc002wot.3_Missense_Mutation_p.R322C|MACROD2_uc002woz.3_Missense_Mutation_p.R87C|MACROD2_uc002wpb.3_Missense_Mutation_p.R87C	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	322	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TCATTCTGTGCGTGACCAAGA	0.348000														119			17		0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184368	60184368	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60184368G>A	uc001npj.3	+	4	2492	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	MS4A14_uc001npi.3_Missense_Mutation_p.D531N|MS4A14_uc001npn.3_Missense_Mutation_p.D381N|MS4A14_uc001npk.3_Missense_Mutation_p.D626N|MS4A14_uc001npl.3_Missense_Mutation_p.D381N|MS4A14_uc001npm.3_Missense_Mutation_p.D381N	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	643	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GTTATGCCAAGATTCAGAATC	0.473000														98			21		0	0	1	0	0
MED9	55090	broad.mit.edu	37	17	17380439	17380439	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:17380439G>A	uc002grh.1	+	0	140	c.84G>A	c.(82-84)aaG>aaA	p.K28K		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	28	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						ctgacaccaagccgctgccgc	0.721000														61			17		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64172320	64172320	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:64172320C>T	uc002lkc.1	-	11	2186	c.2048G>A	c.(2047-2049)aGg>aAg	p.R683K	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_3'UTR	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	683					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CAAAGACTGCCTGTATAGGCT	0.483000														254			69		0	0	1	0	0
ZNF644	84146	broad.mit.edu	37	1	91405961	91405961	+	Missense_Mutation	SNP	T	G	G	rs145118167		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:91405961T>G	uc001dnw.3	-	2	1233	c.950A>C	c.(949-951)aAa>aCa	p.K317T	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.K317T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CATTTTTGATTTATTGGGTAC	0.328000														58			14		0	0	1	0	0
TRIM2	23321	broad.mit.edu	37	4	154216921	154216921	+	Missense_Mutation	SNP	A	G	G	rs111861590		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:154216921A>G	uc003inh.2	+	5	1328	c.1243A>G	c.(1243-1245)Acc>Gcc	p.T415A	TRIM2_uc003ing.2_Missense_Mutation_p.T388A	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	388						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAAGAACGGCACCTATGAGTT	0.567000														126			19		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11346613	11346613	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11346613G>A	uc003jfa.1	-	8	1644	c.1499C>T	c.(1498-1500)gCg>gTg	p.A500V	CTNND2_uc010itt.2_Missense_Mutation_p.A409V|CTNND2_uc011cmy.1_Missense_Mutation_p.A163V|CTNND2_uc011cmz.1_Missense_Mutation_p.A67V|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.A67V	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	500					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A500A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGGGTCCGCGTAATTGGA	0.662000														309			26		0	0	1	0	0
EPC2	26122	broad.mit.edu	37	2	149528914	149528914	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:149528914G>A	uc010zbt.2	+	9	1705	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	560					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGTTTCTGCAGCATCTGTAGC	0.373000														134			32		0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47875874	47875874	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:47875874C>T	uc002ipm.3	+	3	750	c.534C>T	c.(532-534)agC>agT	p.S178S	KAT7_uc002ipl.2_Silent_p.S178S|KAT7_uc010wma.2_Intron|KAT7_uc010wmb.2_Intron|KAT7_uc010wmc.2_Intron|KAT7_uc010wmd.2_Silent_p.S22S|KAT7_uc010wme.2_Silent_p.S22S	NM_007067	NP_008998	O95251	MYST2_HUMAN	Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA.	178					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TCCATGAAAGCTACAACTTCA	0.507000														163			27		0	0	1	0	0
B4GALT7	11285	broad.mit.edu	37	5	177034312	177034312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177034312G>A	uc003mhy.3	+	2	516	c.423G>A	c.(421-423)cgG>cgA	p.R141R	B4GALT7_uc003mhz.3_Silent_p.R27R	NM_007255	NP_009186	Q9UBV7	B4GT7_HUMAN	Homo sapiens xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) (B4GALT7), mRNA.	141					fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTCAACCGGGCAGCGCTCA	0.647000											OREG0017092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			10		0	0	1	0	0
ARL4D	379	broad.mit.edu	37	17	41477126	41477126	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41477126C>T	uc002idt.3	+	1	207	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ARL4D_uc021txy.1_Missense_Mutation_p.A9V	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572000														117			34		0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9780047	9780047	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:9780047C>T	uc001aqe.4	+	8	1414	c.1206C>T	c.(1204-1206)cgC>cgT	p.R402R	PIK3CD_uc001aqb.4_Silent_p.R437R|PIK3CD_uc010oaf.2_Silent_p.R437R|PIK3CD_uc021ogb.1_Silent_p.R221R	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	437					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CCGGGGAACGCTGCCTCTACA	0.622000														294			60		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130984801	130984801	+	Missense_Mutation	SNP	G	A	A	rs148695604		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130984801G>A	uc022bob.1	+	7	1141	c.1054G>A	c.(1054-1056)Gac>Aac	p.D352N	DNM1_uc022bnx.1_Missense_Mutation_p.D352N|DNM1_uc022bny.1_Missense_Mutation_p.D352N|DNM1_uc022bnz.1_Missense_Mutation_p.D352N|DNM1_uc022boa.1_Missense_Mutation_p.D352N	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	352					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AGATCAGATCGACACCTACGA	0.602000														158			32		0	0	1	0	0
IDH3A	3419	broad.mit.edu	37	15	78454048	78454048	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78454048G>A	uc002bdd.3	+	4	442	c.415G>A	c.(415-417)Gat>Aat	p.D139N	IDH3A_uc010umt.2_Missense_Mutation_p.D104N|IDH3A_uc010umu.2_Missense_Mutation_p.D30N|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.D89N|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.D52N	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	139					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding	p.D139E(1)		endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCCTTACACCGATGTAAATAT	0.423000														208			54		0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139651524	139651524	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139651524C>T	uc004cjb.1	-	1	470	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	LCN8_uc004cja.3_5'Flank|LCN8_uc004cjc.1_Missense_Mutation_p.G41R	NM_178469	NP_848564	Q6JVE9	LCN8_HUMAN	Homo sapiens lipocalin 8 (LCN8), mRNA.	64					transport	extracellular region	binding	p.S40R(1)		endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGTTACTCCCGCTCAAGGTG	0.607000														55			15		0	0	1	0	0
ADRB1	153	broad.mit.edu	37	10	115805121	115805121	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:115805121C>T	uc001lba.3	+	0	1316	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	410					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	ACCGGCCGCGCGCCTCGGGCT	0.796000														20			6		0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17487909	17487909	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17487909G>A	uc002ngk.1	-	0	229	c.189C>T	c.(187-189)acC>acT	p.T63T		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	63						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGGCGCTCGGTGGCCTGCA	0.597000														98			25		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8380330	8380330	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8380330C>T	uc002knn.4	+	26	4287	c.3784C>T	c.(3784-3786)Cat>Tat	p.H1262Y	PTPRM_uc010dkv.3_Missense_Mutation_p.H1275Y|PTPRM_uc010wzl.2_Missense_Mutation_p.H1049Y	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1262	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCACCCAGCATCCTTTGCC	0.433000														88			20		0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40696083	40696083	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40696083G>T	uc002hzv.3	+	5	2399	c.2059G>T	c.(2059-2061)Gcc>Tcc	p.A687S		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	687						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGACAGTGTGGCCCAGGGCAT	0.587000														55			13		7.03913e-09	7.75971e-09	1	1	0
MMRN2	79812	broad.mit.edu	37	10	88696774	88696774	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88696774T>C	uc001kea.3	-	6	2703	c.2576A>G	c.(2575-2577)cAt>cGt	p.H859R	MMRN2_uc010qmn.2_Missense_Mutation_p.H502R	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	859	C1q.					extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAAGTAGCCATGTTCAGGGAA	0.562000														123			8		0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134622044	134622044	+	Missense_Mutation	SNP	G	A	A	rs138118152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:134622044G>A	uc021qbc.1	-	57	8130	c.8029C>T	c.(8029-8031)Cgg>Tgg	p.R2677W		NM_001200049	NP_001186978	Q8IYW2	CJ092_HUMAN	Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.	838										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CTCCAGCCCCGACGCAGACCC	0.677000														201			66		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25337590	25337590	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:25337590C>T	uc003xep.1	+	7	1459	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R328C|CDCA2_uc003xeq.1_Missense_Mutation_p.R313C|CDCA2_uc003xer.1_5'UTR	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	328					cell division|mitosis	cytoplasm|nucleus		p.R328C(2)		breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CTTTGTACTTCGTTCTGTACT	0.458000														89			21		0	0	1	0	0
FAM40B	57464	broad.mit.edu	37	7	129096370	129096370	+	Missense_Mutation	SNP	C	A	A	rs139485685		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:129096370C>A	uc011koy.2	+	8	965	c.925C>A	c.(925-927)Cag>Aag	p.Q309K	FAM40B_uc003vow.3_Missense_Mutation_p.Q309K|FAM40B_uc011koz.2_5'Flank	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	309								p.I308I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGACAGTATCCAGGTGGTGAA	0.587000														178			24		3.08376e-08	3.36903e-08	1	1	0
IGF1R	3480	broad.mit.edu	37	15	99456414	99456414	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99456414C>T	uc002bul.3	+	7	1781	c.1731C>T	c.(1729-1731)taC>taT	p.Y577Y	IGF1R_uc010urq.2_Silent_p.Y577Y|IGF1R_uc010bon.3_Silent_p.Y577Y|IGF1R_uc010urr.1_Silent_p.Y27Y	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	577	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGACTCAGTACGCCGTTTACG	0.572000														156			28		0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628475	71628475	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71628475C>A	uc004agy.3	-	0	565	c.534G>T	c.(532-534)caG>caT	p.Q178H		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	178	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCAGGTAGCCCTGCTGGTCGA	0.632000														64			21		1.96292e-10	2.20843e-10	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140237378	140237378	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140237378G>A	uc003lhx.2	+	0	1745	c.1745G>A	c.(1744-1746)cGg>cAg	p.R582Q	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_uc011dad.2_Missense_Mutation_p.R582Q	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	596					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGCTGCGGTCGGTGGTT	0.657000														178			45		0	0	1	0	0
MACROD1	28992	broad.mit.edu	37	11	63782725	63782725	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63782725G>A	uc001nyh.3	-	4	666	c.547_splice	c.e4+1	p.V183_splice		NM_014067	NP_054786	Q9BQ69	MACD1_HUMAN	Homo sapiens MACRO domain containing 1 (MACROD1), mRNA.	183	Macro.									breast(1)|large_intestine(3)|lung(6)|skin(1)	11						TCCACTCACCGCCACCGCCTC	0.657000														27			11		0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100029261	100029261	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:100029261G>A	uc002tad.3	-	12	2316	c.2104C>T	c.(2104-2106)Cca>Tca	p.P702S	REV1_uc002tac.3_Missense_Mutation_p.P701S	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	702					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						GTTCGAACTGGTCTATCATCC	0.403000								Direct reversal of damage						88			34		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	134025901	134025901	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:134025901G>A	uc003ytw.3	+	36	6495	c.6454G>A	c.(6454-6456)Gtg>Atg	p.V2152M	TG_uc010mdw.3_Missense_Mutation_p.V911M|TG_uc011ljb.2_Missense_Mutation_p.V521M|TG_uc011ljc.2_Missense_Mutation_p.V285M	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2152					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2152L(2)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		ACCTGGGGCTGTGAGATGTAT	0.517000														120			27		0	0	1	0	0
NADKD1	133686	broad.mit.edu	37	5	36225652	36225652	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:36225652A>G	uc003jkf.4	-	3	552	c.552T>C	c.(550-552)gaT>gaC	p.D184D	NADKD1_uc010iux.3_Silent_p.D21D|NADKD1_uc003jkg.4_Silent_p.D21D|NADKD1_uc011cov.2_Silent_p.D21D	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	184							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						ACCGTTCTGGATCAGTGTTTA	0.363000														108			13		0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103191616	103191616	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103191616G>T	uc022ajr.1	-	40	6360	c.6200C>A	c.(6199-6201)tCt>tAt	p.S2067Y	RELN_uc022ajq.1_Missense_Mutation_p.S2067Y|RELN_uc010liz.3_Missense_Mutation_p.S2067Y	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2067					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGAGCATAAAGAGCTGACGTG	0.597000														86			12		1.5842e-08	1.73923e-08	1	1	0
GSS	2937	broad.mit.edu	37	20	33523406	33523406	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33523406G>T	uc002xbg.3	-	8	887	c.807C>A	c.(805-807)ggC>ggA	p.G269G	GSS_uc010zun.2_Silent_p.G141G|GSS_uc010zuo.2_Silent_p.G158G|GSS_uc010zup.2_Silent_p.G200G|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	269	Substrate binding.				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GAGGCATGTAGCCATCCCGGA	0.483000														82			24		3.5997e-14	4.22413e-14	1	1	0
CGNL1	84952	broad.mit.edu	37	15	57754064	57754064	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:57754064A>C	uc010bfw.3	+	8	2570	c.2377A>C	c.(2377-2379)Agg>Cgg	p.R793R	CGNL1_uc002aeg.3_Silent_p.R793R	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	793						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GCAGGCCCTGAGGGAGAGTGT	0.537000														92			18		0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158548724	158548724	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:158548724A>G	uc010pin.2	-	0	966	c.966T>C	c.(964-966)gtT>gtC	p.V322V		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TTTTCAAGGCAACTGTGTTTC	0.428000														233			45		0	0	1	0	0
TATDN2	9797	broad.mit.edu	37	3	10312335	10312335	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10312335G>A	uc011atr.2	+	3	2050	c.1469G>A	c.(1468-1470)aGc>aAc	p.S490N	TATDN2_uc003bvg.2_Missense_Mutation_p.S490N|TATDN2_uc003bvf.3_Missense_Mutation_p.S490N|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	490						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGAGCCAAGCCTAGAGGAG	0.498000														108			33		0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116943830	116943830	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:116943830G>A	uc001ege.3	+	19	3136	c.2797G>A	c.(2797-2799)Gac>Aac	p.D933N	ATP1A1_uc010owv.1_Missense_Mutation_p.D902N|ATP1A1_uc010oww.2_Missense_Mutation_p.D933N|ATP1A1_uc010owx.2_Missense_Mutation_p.D902N|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	933					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GCAGTGGGCCGACTTGGTCAT	0.507000														60			7		0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018338	19018338	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19018338C>T	uc001bay.3	+	4	1275	c.677C>T	c.(676-678)gCc>gTc	p.A226V	PAX7_uc001baz.3_Missense_Mutation_p.A224V|PAX7_uc010oct.2_Missense_Mutation_p.A226V	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	226					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACATTCACGGCCGAGCAGCTG	0.637000			T	FOXO1A	alveolar rhabdomyosarcoma									38			4		0	0	1	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754423	6754423	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6754423C>T	uc002mft.3	-	6	1305	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	SH2D3A_uc010xjg.2_Missense_Mutation_p.A249T	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	371					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CCGGCCAGCGCCAGTGTCTGA	0.706000														33			8		0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714825	138714825	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138714825C>A	uc004cgr.4	-	10	1682	c.1682G>T	c.(1681-1683)aGg>aTg	p.R561M	CAMSAP1_uc004cgq.4_Missense_Mutation_p.R451M|CAMSAP1_uc010nbg.3_Missense_Mutation_p.R283M	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	561						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGGTGAGGCCCTGGGGAACTC	0.567000														397			55		1.95512e-22	2.41004e-22	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91133466	91133466	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:91133466G>A	uc004efk.2	+	1	3072	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	PCDH11X_uc004efl.2_Missense_Mutation_p.D743N|PCDH11X_uc010nmv.2_Missense_Mutation_p.D743N|PCDH11X_uc004efm.2_Missense_Mutation_p.D743N|PCDH11X_uc004efn.2_Missense_Mutation_p.D743N|PCDH11X_uc004efo.2_Missense_Mutation_p.D743N|PCDH11X_uc004efh.2_Missense_Mutation_p.D743N|PCDH11X_uc004efj.1_Missense_Mutation_p.D743N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	743	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.D743E(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATGTTACAGACCTTGGTTT	0.413000														133			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106833479	106833479	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106833479G>A	uc021ser.1	-	506		c.14774C>T			abParts_uc001ysx.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		CCTTCACTGAGGCCCCAGGCT	0.537000														95			23		0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166859067	166859067	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166859067A>G	uc002udo.4	-	22	4426	c.4199T>C	c.(4198-4200)aTa>aCa	p.I1400T	SCN1A_uc010fpk.3_Missense_Mutation_p.I1372T|SCN1A_uc021vsb.1_Missense_Mutation_p.I1389T	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1400						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	ATTTCTTTCTATTAGTTTTAG	0.353000														64			22		0	0	1	0	0
ALAS1	211	broad.mit.edu	37	3	52239987	52239987	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52239987G>A	uc011bec.2	+	6	1304	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ALAS1_uc003dcy.2_Silent_p.S311S|ALAS1_uc003dcz.2_Silent_p.S311S	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	311					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.S311S(1)		endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGTTTTCCTCGTGCTTTGTGG	0.483000														118			40		0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864506	57864506	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864506C>A	uc001snx.3	+	11	2077	c.1983C>A	c.(1981-1983)ggC>ggA	p.G661G	GLI1_uc021qzi.1_Silent_p.G620G|GLI1_uc009zpq.3_Silent_p.G533G	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	661					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGAGCCTGGGCTGTGTCCATA	0.607000														69			19		1.56452e-12	1.80666e-12	1	1	0
PSD2	84249	broad.mit.edu	37	5	139189208	139189208	+	Silent	SNP	G	A	A	rs138202504		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:139189208G>A	uc003leu.1	+	1	388	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	61					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAACCCACGAAGGACCCAG	0.632000														127			26		0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10912016	10912016	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:10912016C>T	uc002ras.3	+	6	631	c.522C>T	c.(520-522)ttC>ttT	p.F174F	ATP6V1C2_uc002rat.3_Silent_p.F174F	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.F174L(3)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		AAGAGGACTTCGTGCTGGATT	0.532000														258			98		0	0	1	0	0
LHX1	3975	broad.mit.edu	37	17	35298099	35298099	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:35298099C>T	uc002hnh.2	+	2	1313	c.590C>T	c.(589-591)gCc>gTc	p.A197V	LHX1_uc010cux.1_Missense_Mutation_p.A105V	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	197					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACGCTGAAGGCCGCCTTCGCT	0.667000														47			24		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14970277	14970277	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:14970277G>T	uc002dcv.3	+	20	2484	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	806						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TAGAAGGCCAGATCCACCCCG	0.507000														182			44		1.51926e-22	1.87318e-22	1	1	0
KIF6	221458	broad.mit.edu	37	6	39693183	39693183	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39693183G>A	uc003oot.2	-	1	1	c.-94_splice	c.e1-1		KIF6_uc011dua.1_Splice_Site|KIF6_uc010jxb.1_Splice_Site	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTAGCAACAGTAGCTAGGGA	0.622000														304			16		0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134032917	134032917	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:134032917T>G	uc003kzs.3	+	13	2380	c.2088T>G	c.(2086-2088)taT>taG	p.Y696*	SEC24A_uc011cxu.2_Nonsense_Mutation_p.Y460*	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	696					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGGACAGTATTCTGATTTGG	0.348000														127			47		0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73753262	73753262	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73753262G>A	uc003uam.3	+	2	933	c.606G>A	c.(604-606)tcG>tcA	p.S202S	CLIP2_uc003uan.3_Silent_p.S202S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	202						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCAACGAGTCGGGATCCAACC	0.667000														175			37		0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58500015	58500015	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58500015C>T	uc002qqw.3	-	4	870	c.252G>A	c.(250-252)agG>agA	p.R84R	ZNF606_uc010yhp.2_5'UTR	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GGTACAGGGTCCTCTGAACAA	0.537000														364			70		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19770458	19770458	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19770458G>A	uc002zqc.3	+	8	1161	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G		NM_005992	NP_005983	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant B, mRNA.	0					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				aaggctctgggctccaacctg	0.532000														244			47		0	0	1	0	0
ANKK1	255239	broad.mit.edu	37	11	113267969	113267969	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:113267969C>A	uc001pny.3	+	5	956	c.862C>A	c.(862-864)Ctg>Atg	p.L288M		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	288	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.L288L(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GACAGACATACTGCTGTCACT	0.587000														62			25		1.37878e-21	1.69431e-21	1	1	0
FITM2	128486	broad.mit.edu	37	20	42935305	42935305	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:42935305C>A	uc002xlr.1	-	1	850	c.749G>T	c.(748-750)aGc>aTc	p.S250I		NM_001080472	NP_001073941	Q8N6M3	FITM2_HUMAN	Homo sapiens fat storage-inducing transmembrane protein 2 (FITM2), mRNA.	250					cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane				endometrium(2)|lung(2)|skin(2)	6						CAAACTACAGCTCTGGGGAGG	0.423000														107			13		6.72482e-11	7.60803e-11	1	1	0
PKDREJ	10343	broad.mit.edu	37	22	46655796	46655796	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:46655796G>A	uc003bhh.3	-	0	3424	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1142					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCCAGCTGCCGCCTAGCCCTT	0.507000														238			43		0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94170971	94170971	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:94170971C>A	uc001ybv.1	+	47	7284	c.7201_splice	c.e47-1	p.L2401_splice	UNC79_uc001ybs.1_Splice_Site_p.L2379_splice	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	Homo sapiens unc-79 homolog (C. elegans) (UNC79), mRNA.	2556						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						CTCTATACAGCTGATACCTAT	0.433000														125			22		8.04996e-18	9.68579e-18	1	1	0
GPR116	221395	broad.mit.edu	37	6	46827246	46827246	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46827246C>T	uc003oyo.3	-	16	2683	c.2394G>A	c.(2392-2394)acG>acA	p.T798T	GPR116_uc011dwj.1_Silent_p.T353T|GPR116_uc011dwk.1_Silent_p.T227T|GPR116_uc003oyp.3_Silent_p.T656T|GPR116_uc003oyq.3_Silent_p.T798T|GPR116_uc010jzi.1_Silent_p.T470T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	798					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGACATTAACCGTAGAGAGCA	0.393000														52			14		0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682385	31682385	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:31682385C>T	uc011kae.2	+	10	1491	c.1479C>T	c.(1477-1479)gaC>gaT	p.D493D	CCDC129_uc011kad.1_Silent_p.D477D|CCDC129_uc003tcj.1_Silent_p.D467D|CCDC129_uc003tci.1_Silent_p.D318D|CCDC129_uc003tck.1_Silent_p.D375D	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	467										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATCCCAGGACTGTCAGCTAG	0.507000														132			31		0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80655779	80655779	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:80655779G>A	uc003khl.4	-	4	494	c.439C>T	c.(439-441)Cga>Tga	p.R147*	RNU5E-1_uc011cto.1_Intron|ACOT12_uc003khm.3_Nonsense_Mutation_p.R147*	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	147					acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	p.R147*(2)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGTTGTAATCGAACTTTCCTT	0.313000														42			15		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320829	79320829	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79320829G>T	uc010mpk.3	-	7	6485	c.6361C>A	c.(6361-6363)Ctc>Atc	p.L2121I	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.L1943I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2121					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CAAGCACTGAGGTGCTTCTCA	0.488000														201			45		1.23103e-26	1.53955e-26	1	1	0
GON4L	54856	broad.mit.edu	37	1	155732150	155732150	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155732150G>A	uc001flz.2	-	22	4839	c.4742C>T	c.(4741-4743)gCt>gTt	p.A1581V	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.A1581V|GON4L_uc009wrh.1_Missense_Mutation_p.A1581V|GON4L_uc001fma.1_Missense_Mutation_p.A1581V|GON4L_uc001fmb.4_Missense_Mutation_p.A777V	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1581					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTTTCCAGCAGCTTTGATGCT	0.542000														48			9		0	0	1	0	0
GFAP	2670	broad.mit.edu	37	17	42992761	42992761	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42992761C>T	uc021tyh.1	-	0	160	c.94G>A	c.(94-96)Ggt>Agt	p.G32S	GFAP_uc002ihq.3_Missense_Mutation_p.G32S|GFAP_uc002ihr.3_Missense_Mutation_p.G32S|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	32	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GTGCCAGGACCCAGACGGCGG	0.672000														79			8		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182542881	182542881	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:182542881C>T	uc021vto.1	-	0	707	c.707G>A	c.(706-708)aGc>aAc	p.S236N	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Missense_Mutation_p.S236N|NEUROD1_uc021vtn.1_Missense_Mutation_p.S236N	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	236					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GACATGGGAGCTGTCCATGGT	0.627000											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)		264			46		0	0	1	0	0
VPS36	51028	broad.mit.edu	37	13	52991255	52991255	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:52991255G>A	uc001vgs.3	-	11	961	c.927C>T	c.(925-927)ggC>ggT	p.G309G	VPS36_uc001vgq.3_Silent_p.G251G	NM_016075	NP_057159	Q86VN1	VPS36_HUMAN	Homo sapiens vacuolar protein sorting 36 homolog (S. cerevisiae) (VPS36), mRNA.	309					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	p.G309A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TTACCATGACGCCACTGTCAA	0.468000														60			16		0	0	1	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018284	211018284	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211018284G>A	uc002vds.3	-	1	1231	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KANSL1L_uc002vdt.3_Silent_p.S341S|KANSL1L_uc002vdw.3_Silent_p.S341S|KANSL1L_uc002vdy.1_Silent_p.S341S|KANSL1L_uc002vdv.3_Silent_p.S341S|KANSL1L_uc002vdx.1_Silent_p.S341S	NM_152519	NP_689732	A0AUZ9	CB067_HUMAN	Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA.	341																	CAGTTGCATCGGAATCCAAAC	0.393000														119			45		0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537227	140537227	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140537227C>A	uc003lis.3	+	0	1648	c.1648C>A	c.(1648-1650)Ctg>Atg	p.L550M						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		GGTGCGCGTGCTGGTGTGCTG	0.706000														304			70		6.52717e-41	8.30148e-41	1	1	0
LIMK1	3984	broad.mit.edu	37	7	73523282	73523282	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:73523282C>T	uc003uaa.2	+	9	1414	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.I366I|LIMK1_uc003uac.1_Silent_p.I192I	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	400	Protein kinase.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TCAAGTTCATCGGGGTGCTCT	0.597000														104			19		0	0	1	0	0
SCYL2	55681	broad.mit.edu	37	12	100723037	100723037	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:100723037C>T	uc001thn.3	+	12	1751	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	SCYL2_uc001thm.1_Silent_p.A567A	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	567					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	Golgi apparatus|clathrin-coated vesicle|endosome membrane|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding	p.T566S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGCAGCTGGCCGGAAAAGTGT	0.328000														66			8		0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188361643	188361643	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:188361643T>G	uc002upy.3	-	2	579	c.284A>C	c.(283-285)gAa>gCa	p.E95A	TFPI_uc002uqa.2_Missense_Mutation_p.E95A|TFPI_uc002uqb.2_Missense_Mutation_p.E95A	NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	95	BPTI/Kunitz inhibitor 1.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TTCCAGACTTTCAAATCGATT	0.363000														96			17		0	0	1	0	0
MMP28	79148	broad.mit.edu	37	17	34097220	34097220	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:34097220G>A	uc002hjy.1	-	5	972	c.713C>T	c.(712-714)gCg>gTg	p.A238V	MMP28_uc002hjw.1_Non-coding_Transcript|MMP28_uc002hjz.1_Non-coding_Transcript	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	Homo sapiens matrix metallopeptidase 28 (MMP28), transcript variant 1, mRNA.	239					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GATCTCGTGCGCCAGCACCAC	0.726000														49			10		0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299102	125299102	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:125299102G>A	uc004euk.2	-	0	979	c.806C>T	c.(805-807)gCc>gTc	p.A269V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	269										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGCTGAAGGCCAGGGCCCG	0.637000														146			39		0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52360312	52360312	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52360312G>A	uc011bef.2	+	3	824	c.563G>A	c.(562-564)cGc>cAc	p.R188H	DNAH1_uc003ddt.1_Missense_Mutation_p.R188H	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	188	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGCATCCTCGCAAGATTGAG	0.642000														65			5		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122826040	122826040	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122826040T>G	uc001ucg.2	-	10	1866	c.1711A>C	c.(1711-1713)Act>Cct	p.T571P	CLIP1_uc001uch.1_Missense_Mutation_p.T560P|CLIP1_uc001uci.1_Missense_Mutation_p.T525P|CLIP1_uc001ucj.1_Missense_Mutation_p.T261P|CLIP1_uc009zxo.1_Missense_Mutation_p.T127P	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	571					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCAGAGAAGTTATTTCTCTC	0.468000														362			77		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37499282	37499282	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37499282G>A	uc003aqt.1	-	1	238	c.176C>T	c.(175-177)gCg>gTg	p.A59V	TMPRSS6_uc003aqs.1_Missense_Mutation_p.A68V|TMPRSS6_uc003aqu.3_Missense_Mutation_p.A59V	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	68					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGCACCCCCGCCGAAGCCAG	0.627000														129			38		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459101	27459101	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27459101G>A	uc001itm.3	+	7	1816	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MASTL_uc001itl.3_Missense_Mutation_p.D405N|MASTL_uc009xkw.2_Missense_Mutation_p.D405N|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	405	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGTAGAACTGGATGTAAATAA	0.438000														126			30		0	0	1	0	0
DDX59	83479	broad.mit.edu	37	1	200635738	200635738	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200635738G>T	uc009wzk.3	-	1	374	c.131C>A	c.(130-132)gCt>gAt	p.A44D	DDX59_uc010ppl.1_Missense_Mutation_p.A44D	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	44						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TGTAGCTACAGCATCAACGGG	0.483000														156			34		7.16026e-08	7.77809e-08	1	1	0
NUP188	23511	broad.mit.edu	37	9	131763821	131763821	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131763821G>A	uc004bws.1	+	34	3879	c.3857G>A	c.(3856-3858)gGc>gAc	p.G1286D	NUP188_uc004bwu.3_Missense_Mutation_p.G629D	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1286					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGTGTCCTGGGCCTGCACCTG	0.612000														102			15		0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566325	129566325	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:129566325C>T	uc009zyl.1	-	6	2230	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E	TMEM132D_uc001uia.2_Silent_p.E172E	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	634						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCATCCCAAGCTCCTGCCCCA	0.498000														111			30		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175335086	175335086	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:175335086C>T	uc001gkp.1	-	8	2323	c.2242G>A	c.(2242-2244)Gca>Aca	p.A748T	TNR_uc009wwu.1_Missense_Mutation_p.A748T	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	748	Fibronectin type-III 5.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGTACTCTGCCCCAGGCTCT	0.537000														123			50		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229908	140229908	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140229908G>A	uc003lhu.2	+	0	2552	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	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_uc003lht.1_Missense_Mutation_p.E610K	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	623	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTTCATACGAGCTGCAGCC	0.672000														247			75		0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30338786	30338786	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:30338786T>G	uc002ymr.2	-	9	2178	c.2165A>C	c.(2164-2166)aAg>aCg	p.K722T	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	676							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACCAAAATCCTTCCTTTGATC	0.398000														100			21		0	0	1	0	0
UNC50	25972	broad.mit.edu	37	2	99226382	99226382	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99226382C>T	uc010yvl.2	+	1	445	c.211C>T	c.(211-213)Ctc>Ttc	p.L71F	COA5_uc002syz.3_5'Flank|UNC50_uc002szc.4_Missense_Mutation_p.L54F|UNC50_uc002szb.3_Missense_Mutation_p.L54F	NM_014044	NP_054763	Q53HI1	UNC50_HUMAN	Homo sapiens unc-50 homolog (C. elegans) (UNC50), mRNA.	54					protein transport	Golgi membrane|integral to membrane|nuclear inner membrane	RNA binding	p.R70*(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)	10						CTGGCAGATGCTCTACCTGTT	0.488000														210			51		0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370157	6370157	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6370157C>T	uc003spu.3	-	1	1097	c.629G>A	c.(628-630)cGc>cAc	p.R210H	FAM220A_uc021zzf.1_Missense_Mutation_p.R210H	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	210						nucleus											AAGGAAAATGCGTTTTGTCTC	0.483000														276			13		0	0	1	0	0
FAM160A2	84067	broad.mit.edu	37	11	6244424	6244424	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6244424T>C	uc001mck.4	-	3	1181	c.822A>G	c.(820-822)cgA>cgG	p.R274R	FAM160A2_uc001mcl.4_Silent_p.R274R|FAM160A2_uc001mcm.2_Silent_p.R274R	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	274					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTCAATCTTTCGAGGCAGTG	0.473000														271			67		0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52521950	52521950	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52521950G>A	uc003ded.4	+	15	2576	c.2442G>A	c.(2440-2442)caG>caA	p.Q814Q	NISCH_uc003dee.4_Silent_p.Q303Q|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	814	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TTGCACCCCAGCACATGGCCA	0.612000														91			21		0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25175698	25175698	+	Missense_Mutation	SNP	G	A	A	rs143176585	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:25175698G>A	uc003sxn.1	-	9	2227	c.1666C>T	c.(1666-1668)Cgt>Tgt	p.R556C		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	556								p.R556H(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TTATGGAAACGCTTTTGTGCA	0.413000														118			27		0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129321161	129321161	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:129321161A>G	uc001qfc.4	+	3	754	c.704A>G	c.(703-705)gAg>gGg	p.E235G		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	235										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		GAGCAGCTGGAGCCCTCTCAG	0.577000														143			7		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237993907	237993907	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237993907G>T	uc001hyl.1	+	102	14853	c.14733G>T	c.(14731-14733)caG>caT	p.Q4911H	RYR2_uc010pyb.1_Intron	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4911					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTACAGGAGCACAACT	0.458000														137			49		1.83081e-24	2.27564e-24	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3240577	3240577	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:3240577G>T	uc004crg.4	-	4	3306	c.3149C>A	c.(3148-3150)aCt>aAt	p.T1050N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1050						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTGTCTTGAGTGCTTAGACT	0.443000														120			35		9.78485e-24	1.21317e-23	1	1	0
ZCCHC8	55596	broad.mit.edu	37	12	122962754	122962754	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:122962754G>A	uc001ucn.3	-	12	1383	c.1227_splice	c.e12+1	p.A409_splice	ZCCHC8_uc001ucl.3_Splice_Site_p.A20_splice|ZCCHC8_uc001ucm.3_Splice_Site_p.A171_splice|ZCCHC8_uc009zxp.3_Splice_Site_p.A171_splice|ZCCHC8_uc009zxq.3_Splice_Site_p.A171_splice	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	409						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TCTATTTACCGCTTGGAAGTT	0.378000														11			5		0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131661	45131661	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45131661T>G	uc002xsa.3	-	3	848	c.386A>C	c.(385-387)aAa>aCa	p.K129T	ZNF334_uc002xsb.3_Missense_Mutation_p.K68T|ZNF334_uc002xsd.3_Missense_Mutation_p.K68T|ZNF334_uc002xsc.3_Missense_Mutation_p.K106T|ZNF334_uc010ghl.3_Missense_Mutation_p.K105T			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATCAGTGTTTTGTTGCTGAA	0.353000														47			11		0	0	1	0	0
MCOLN1	57192	broad.mit.edu	37	19	7591439	7591439	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7591439G>A	uc002mgo.3	+	2	493	c.352G>A	c.(352-354)Gca>Aca	p.A118T	MCOLN1_uc002mgp.3_Silent_p.S4S	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	118					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGACACCTTCGCAGCCTACAC	0.632000														245			47		0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1519141	1519141	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:1519141G>A	uc003skn.2	-	30	4355	c.4254C>T	c.(4252-4254)ggC>ggT	p.G1418G		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1418					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CCAGGGCACCGCCGTGTGGGG	0.711000														18			5		0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169792891	169792891	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:169792891A>G	uc002ueo.1	-	21	2789	c.2663T>C	c.(2662-2664)gTg>gCg	p.V888A	ABCB11_uc010zda.1_Missense_Mutation_p.V330A|ABCB11_uc010zdb.1_Missense_Mutation_p.V364A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	888	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GATCATGGCCACAGTGACGTT	0.502000														107			35		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14819312	14819312	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:14819312G>A	uc003zlm.3	-	14	3282	c.2466C>T	c.(2464-2466)caC>caT	p.H822H	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	822					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			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)		CCACCCTTCCGTGCAGAGGCA	0.458000														63			15		0	0	1	0	0
HIST3H2BB	128312	broad.mit.edu	37	1	228646088	228646088	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228646088G>T	uc001hsz.3	+	0	281	c.258G>T	c.(256-258)aaG>aaT	p.K86N	HIST3H2A_uc001hsy.3_5'Flank	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN	Homo sapiens histone cluster 3, H2bb (HIST3H2BB), mRNA.	86					nucleosome assembly	nucleosome|nucleus	DNA binding			skin(1)	1		Prostate(94;0.183)				ACTACAACAAGCGCTCCACCA	0.647000														259			50		4.01344e-20	4.89264e-20	1	1	0
ZNF549	256051	broad.mit.edu	37	19	58048598	58048598	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58048598G>T	uc002qpb.2	+	3	475	c.226G>T	c.(226-228)Gag>Tag	p.E76*	ZNF549_uc002qpa.2_Nonsense_Mutation_p.E63*	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGAGGCTGAGGAGGCCCCTTC	0.463000														167			37		1.26612e-14	1.49017e-14	1	1	0
PSD3	23362	broad.mit.edu	37	8	18725375	18725375	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:18725375C>T	uc003wza.3	-	3	1546	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	481					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GCTGTTGTATCATTGGAGTGA	0.458000														227			56		0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125286413	125286413	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125286413T>C	uc003eic.3	-	5	1430	c.693A>G	c.(691-693)caA>caG	p.Q231Q		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	231					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TTAAGTCTCTTTGTTGTCCTT	0.388000														100			12		0	0	1	0	0
ADARB2	105	broad.mit.edu	37	10	1313190	1313190	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:1313190G>A	uc009xhq.3	-	3	1478	c.1152C>T	c.(1150-1152)caC>caT	p.H384H		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	384					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TATGGCGGGCGTGCATGGGCG	0.537000														36			7		0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094128	160094128	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160094128G>A	uc001fvc.3	+	5	670	c.538G>A	c.(538-540)Gca>Aca	p.A180T	ATP1A2_uc001fvb.2_Missense_Mutation_p.A180T|ATP1A2_uc010piz.1_Missense_Mutation_p.A25T	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	180					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCAGATCAACGCAGAGGAAGT	0.587000														25			8		0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75979000	75979000	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:75979000C>T	uc003kek.3	+	28	3943	c.3721C>T	c.(3721-3723)Ctg>Ttg	p.L1241L	IQGAP2_uc011csv.2_Silent_p.L737L|IQGAP2_uc003kel.3_Silent_p.L737L|IQGAP2_uc010izw.1_5'UTR	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1241					small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGTGAATTGCTGGGGTCGCT	0.433000														113			20		0	0	1	0	0
HDHD2	84064	broad.mit.edu	37	18	44662797	44662797	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:44662797C>T	uc002lcs.3	-	1	147	c.14G>A	c.(13-15)cGt>cAt	p.R5H	HDHD2_uc002lct.3_5'UTR	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	5							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TTTTAATGCACGGCATGCTGC	0.408000														92			9		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76496430	76496430	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76496430G>A	uc010dhp.2	-	35	5722	c.5597C>T	c.(5596-5598)aCc>aTc	p.T1866I	AK127460_uc002jvt.1_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTAGACCATGGTGCCCAGGGC	0.622000														42			11		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146625805	146625805	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146625805G>A	uc010khw.1	+	3	1479	c.1009G>A	c.(1009-1011)Gga>Aga	p.G337R	GRM1_uc010khv.1_Missense_Mutation_p.G337R|GRM1_uc003qll.2_Missense_Mutation_p.G337R|GRM1_uc011edz.1_Missense_Mutation_p.G337R|GRM1_uc011eea.1_Missense_Mutation_p.G337R	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	337					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCCAACGGGGGAATCACGAT	0.473000														63			12		0	0	1	0	0
PML	5371	broad.mit.edu	37	15	74325728	74325728	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:74325728C>T	uc002awv.3	+	5	1770	c.1630C>T	c.(1630-1632)Cac>Tac	p.H544Y	PML_uc002awj.1_Missense_Mutation_p.H496Y|PML_uc002awm.3_Missense_Mutation_p.H544Y|PML_uc002awl.3_Intron|PML_uc002awk.3_Missense_Mutation_p.H544Y|PML_uc002awn.3_Missense_Mutation_p.H544Y|PML_uc002awo.3_Missense_Mutation_p.H496Y|PML_uc002awp.3_Intron|PML_uc002awq.3_Missense_Mutation_p.H544Y|PML_uc002awr.3_Missense_Mutation_p.H544Y|PML_uc002aws.3_Missense_Mutation_p.H496Y|PML_uc002awt.3_Intron|PML_uc002awu.3_Missense_Mutation_p.H496Y|PML_uc010ule.2_Missense_Mutation_p.H105Y|PML_uc002awx.3_Missense_Mutation_p.H254Y|PML_uc002awy.3_5'UTR	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	544					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAACAGCAACCACGTGGCCAG	0.667000			T	"""RARA, PAX5"""	"""APL, ALL"""									147			28		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228471427	228471427	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228471427C>T	uc009xez.1	+	32	9005	c.8961C>T	c.(8959-8961)tgC>tgT	p.C2987C	OBSCN_uc001hsn.3_Silent_p.C2987C|OBSCN_uc001hsp.1_Silent_p.C686C|OBSCN_uc001hsq.1_Silent_p.C243C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2987	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647000														141			43		0	0	1	0	0
PKNOX2	63876	broad.mit.edu	37	11	125267823	125267823	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:125267823C>T	uc001qbu.3	+	6	767	c.453C>T	c.(451-453)gtC>gtT	p.V151V	PKNOX2_uc010saz.2_Silent_p.V122V|PKNOX2_uc010sba.2_Silent_p.V122V|PKNOX2_uc010sbb.2_Silent_p.V87V	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	151						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		TGGAGAAAGTCAATGAACTCT	0.522000														170			33		0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48808368	48808368	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:48808368A>G	uc002rwp.2	+	1	710	c.596A>G	c.(595-597)gAc>gGc	p.D199G	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.D199G|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.D199G|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.D199G|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.D199G	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	199					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCACCCTTGACCCACCAGGA	0.408000														102			28		0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53823984	53823984	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53823984C>T	uc001scx.2	+	9	1423	c.1343C>T	c.(1342-1344)cCt>cTt	p.P448L	AMHR2_uc009zmy.2_Silent_p.L447L|AMHR2_uc021qyg.1_Intron	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	448	Protein kinase.		Missing (in PMDS2).		Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGCAATACCCCTACCTCTGAT	0.587000														408			109		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55696921	55696921	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55696921C>T	uc002qjq.3	-	17	3084	c.3011G>A	c.(3010-3012)cGg>cAg	p.R1004Q	PTPRH_uc010esv.3_Missense_Mutation_p.R826Q	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1004	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGCCACTGCCGAAGCATCCT	0.627000														87			12		0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56139215	56139215	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56139215C>A	uc002adj.3	-	13	3117	c.2817G>T	c.(2815-2817)agG>agT	p.R939S	NEDD4_uc002adl.3_Missense_Mutation_p.R520S|NEDD4_uc002adi.3_Missense_Mutation_p.R867S|NEDD4_uc010ugj.2_Missense_Mutation_p.R923S|NEDD4_uc010bfm.3_Missense_Mutation_p.R922S|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	939	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTTTGTAATCCCTGGAGTAGG	0.299000														44			13		4.36969e-10	4.89342e-10	1	1	0
DYRK4	8798	broad.mit.edu	37	12	4721773	4721773	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4721773C>T	uc009zeh.1	+	13	1597	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	DYRK4_uc001qmx.3_Missense_Mutation_p.R404W|DYRK4_uc001qmy.2_Missense_Mutation_p.R404W|DYRK4_uc021qtq.1_Missense_Mutation_p.R258W|DYRK4_uc001qmz.2_Missense_Mutation_p.R118W|DYRK4_uc001qna.2_Missense_Mutation_p.R41W|DYRK4_uc010ser.2_Missense_Mutation_p.R41W	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	404						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TCATCAGTCTCGGAACCTCAA	0.537000														172			21		0	0	1	0	0
NDUFS1	4719	broad.mit.edu	37	2	207012502	207012502	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:207012502T>C	uc010ziq.2	-	5	498	c.437A>G	c.(436-438)gAc>gGc	p.D146G	NDUFS1_uc002vbe.3_Missense_Mutation_p.D132G|NDUFS1_uc010zir.2_Missense_Mutation_p.D96G|NDUFS1_uc010zis.2_Missense_Mutation_p.D75G|NDUFS1_uc010zit.2_Missense_Mutation_p.D21G|NDUFS1_uc010ziu.2_Missense_Mutation_p.D16G	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	132					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCTCCCTGGTCACAAATAGG	0.363000														138			48		0	0	1	0	0
RASA1	5921	broad.mit.edu	37	5	86672311	86672311	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:86672311T>C	uc003kiw.3	+	15	2312	c.2113T>C	c.(2113-2115)Tcc>Ccc	p.S705P	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.S528P|RASA1_uc011ctv.2_Missense_Mutation_p.S538P|RASA1_uc011ctw.2_Missense_Mutation_p.S539P|RASA1_uc010jaw.3_Missense_Mutation_p.S527P	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	705					cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TGAACCAGGGTCCCTGCGTGT	0.403000														56			20		0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876933	4876933	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4876933G>A	uc010cku.2	-	12	2629	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	CAMTA2_uc002gag.2_Silent_p.H715H|CAMTA2_uc002gah.2_Silent_p.H716H|CAMTA2_uc002gai.2_Silent_p.H718H|CAMTA2_uc010ckv.1_Silent_p.H363H	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	716					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CAGCAGCCAGGTGCAGAAGGC	0.642000														72			15		0	0	1	0	0
P2RY8	286530	broad.mit.edu	37	X	1585098	1585098	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:1585098G>A	uc022brv.1	-	0	354	c.354C>T	c.(352-354)agC>agT	p.S118S	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.S118S	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	118						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGCGCTCCACGCTGATACAGG	0.632000			T	CRLF2	"""B-ALL, Downs associated ALL"""									48			13		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235826308	235826308	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235826308G>A	uc001hxj.2	-	52	11513	c.11338C>T	c.(11338-11340)Cgg>Tgg	p.R3780W	LYST_uc001hxi.2_Missense_Mutation_p.R1004W	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3780					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGGTCCTTCCGACACCAGGCA	0.453000														194			55		0	0	1	0	0
RIPK4	54101	broad.mit.edu	37	21	43161903	43161903	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:43161903G>A	uc002yzn.1	-	7	1498	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	484						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.R484L(1)|p.R484R(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACGACACCCCGCACCCTCCTC	0.632000														250			24		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069920	140069920	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069920G>T	uc004clr.1	-	11	2098	c.2025C>A	c.(2023-2025)agC>agA	p.S675R	ANAPC2_uc004clq.1_Missense_Mutation_p.S531R	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	675					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CCAGGGTCCAGCTGGCTGCGT	0.721000														25			3		0.115264	0.115636	1	1	0
ANK2	287	broad.mit.edu	37	4	114279143	114279143	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114279143C>T	uc003ibe.4	+	37	9469	c.9369C>T	c.(9367-9369)tcC>tcT	p.S3123S	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.S3138S	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3090					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCAAAAGGTCCTATGCAGATG	0.448000														79			19		0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56104155	56104155	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:56104155G>A	uc002qli.4	-	2	1242	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	FIZ1_uc002qlj.4_Silent_p.G384G	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CCTCCCCGCCGCCCTCACCGT	0.766000														57			8		0	0	1	0	0
TBC1D19	55296	broad.mit.edu	37	4	26638889	26638889	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26638889T>C	uc003gsf.4	+	4	621	c.351T>C	c.(349-351)agT>agC	p.S117S	TBC1D19_uc010iew.3_Silent_p.S117S|TBC1D19_uc011bxu.2_Silent_p.S52S	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	117						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTGAACTGAGTATCCCACTGG	0.303000														80			13		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42862549	42862549	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:42862549A>G	uc010skv.2	-	4	754	c.467T>C	c.(466-468)tTt>tCt	p.F156S	PRICKLE1_uc001rnl.3_Missense_Mutation_p.F156S|PRICKLE1_uc010skw.2_Missense_Mutation_p.F156S|PRICKLE1_uc001rnm.3_Missense_Mutation_p.F156S	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	156	LIM zinc-binding 1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAACAGACAAAACAGGATGG	0.483000														101			28		0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74482960	74482960	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74482960C>T	uc002sko.1	-	7	969	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V323M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V323M|SLC4A5_uc002skp.1_Missense_Mutation_p.V259M|SLC4A5_uc002sks.1_Missense_Mutation_p.V323M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	323						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						ATGAGGCGCACGAACGCGATG	0.582000														94			34		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187575	62187575	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62187575C>T	uc002yfj.3	+	1	651	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	C20orf195_uc021wgc.1_Missense_Mutation_p.R187C	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	187										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGTCAAGCACCGCCTGGTGTC	0.647000														324			77		0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94381182	94381182	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94381182C>A	uc001kic.3	+	9	1477	c.1169C>A	c.(1168-1170)gCt>gAt	p.A390D		NM_004523	NP_004514	P52732	KIF11_HUMAN	Homo sapiens kinesin family member 11 (KIF11), mRNA.	390					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGAGATCTTGCTGCAGCCCGT	0.378000														94			10		1.76689e-08	1.93511e-08	1	1	0
BRD2	6046	broad.mit.edu	37	6	32947695	32947695	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32947695C>T	uc010juh.3	+	10	3341	c.2037C>T	c.(2035-2037)taC>taT	p.Y679Y	BRD2_uc003ocn.4_Silent_p.Y644Y|BRD2_uc003ocp.4_Silent_p.Y524Y|BRD2_uc003ocq.4_Silent_p.Y644Y|BRD2_uc021ywf.1_Silent_p.Y597Y	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	644	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CCATGAGTTACGATGAGAAGC	0.547000														71			12		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886420	23886420	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23886420G>T	uc001wjx.3	-	31	4567	c.4461C>A	c.(4459-4461)gcC>gcA	p.A1487A		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1487					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTCCTCATAGGCGTTCTTGA	0.597000														318			63		1.00798e-23	1.24953e-23	1	1	0
RUSC1	23623	broad.mit.edu	37	1	155297964	155297964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155297964C>T	uc001fkj.2	+	8	2667	c.2438C>T	c.(2437-2439)cCg>cTg	p.P813L	RUSC1_uc001fkk.2_Missense_Mutation_p.P707L|RUSC1_uc009wqo.1_Missense_Mutation_p.P344L|RUSC1_uc001fkl.2_Missense_Mutation_p.P403L|RUSC1_uc001fkp.2_Missense_Mutation_p.P344L|RUSC1_uc010pgb.1_Missense_Mutation_p.P311L|RUSC1_uc009wqp.1_Missense_Mutation_p.P338L|RUSC1_uc001fko.2_Non-coding_Transcript|RUSC1_uc001fkn.2_Missense_Mutation_p.P122L|RUSC1_uc001fkr.2_Missense_Mutation_p.P344L	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	813						cytoplasm|nucleolus	SH3/SH2 adaptor activity	p.P344Q(2)|p.P707Q(2)|p.P403Q(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			TGGCTGCCCCCGACAGTGAGT	0.582000														345			127		0	0	1	0	0
GRIN2C	2905	broad.mit.edu	37	17	72843044	72843044	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72843044C>A	uc002jlt.1	-	9	2173	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.D673Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	673					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGGTACTGATCTTGAGGCCGC	0.617000														200			15		0.00400662	0.0040779	1	1	0
OR2G6	391211	broad.mit.edu	37	1	248685389	248685389	+	Missense_Mutation	SNP	G	A	A	rs138151830		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:248685389G>A	uc001ien.1	+	0	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A148T(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	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)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCGGTGGAGCATGGCTCAG	0.577000														107			31		0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048565	42048565	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:42048565C>T	uc001cgz.4	-	3	3117	c.1904G>A	c.(1903-1905)gGt>gAt	p.G635D	HIVEP3_uc001cha.4_Missense_Mutation_p.G635D|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	635	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTTTTCAAACCCTTCTTGGT	0.478000														194			49		0	0	1	0	0
ZNF785	146540	broad.mit.edu	37	16	30594073	30594073	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30594073G>A	uc002dyu.3	+	1		c.380G>A			ZNF785_uc002dyv.2_Silent_p.C327C|ZNF785_uc002dyw.2_Silent_p.C342C|ZNF785_uc010vez.2_Silent_p.C307C			A8K8V0	ZN785_HUMAN	Homo sapiens cDNA clone IMAGE:4906981, partial cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACACTCCACGCAGGGGAAGG	0.667000														195			33		0	0	1	0	0
UBA7	7318	broad.mit.edu	37	3	49847012	49847012	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49847012C>A	uc003cxr.3	-	15	2222	c.2051G>T	c.(2050-2052)gGc>gTc	p.G684V		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	684					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGTTTGATGCCATAATGAAA	0.567000														377			78		1.15773e-35	1.46678e-35	1	1	0
MAP3K2	10746	broad.mit.edu	37	2	128088062	128088062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128088062G>A	uc002toj.2	-	4	384	c.284C>T	c.(283-285)aCt>aTt	p.T95I		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	95	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GTCATCTTGAGTAGTTAATGG	0.383000														27			8		0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479908	4479908	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:4479908C>T	uc001qmq.1	-	2	503	c.357G>A	c.(355-357)acG>acA	p.T119T		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	119					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CGTTTTCCAGCGTCTGGTGTT	0.607000														285			35		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	16024477	16024477	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16024477G>A	uc002gpo.3	-	15	2010	c.1741C>T	c.(1741-1743)Cgt>Tgt	p.R581C	NCOR1_uc002gpn.3_Missense_Mutation_p.R581C|NCOR1_uc002gpp.1_Missense_Mutation_p.R472C|NCOR1_uc002gpr.3_Missense_Mutation_p.R472C	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	581					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CGGCCCTTACGGCGGCCCTGA	0.597000														265			53		0	0	1	0	0
PFAS	5198	broad.mit.edu	37	17	8171913	8171913	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8171913C>T	uc002gkr.3	+	26	3586	c.3445C>T	c.(3445-3447)Cgg>Tgg	p.R1149W	PFAS_uc010vuv.2_Missense_Mutation_p.R725W|PFAS_uc002gks.3_Missense_Mutation_p.R228W	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1149	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTTCCGGAAGCGGCCAGACAC	0.627000														118			7		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116101463	116101463	+	Silent	SNP	C	T	T	rs143448690		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101463C>T	uc002tle.3	+	2	279	c.258C>T	c.(256-258)caC>caT	p.H86H	DPP10_uc002tla.2_Silent_p.H82H|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Silent_p.H32H|DPP10_uc002tlc.2_Silent_p.H78H|DPP10_uc002tlf.2_Silent_p.H75H	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	82					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTGTGCTTCACGATCCAGAGG	0.333000														74			17		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2358456	2358456	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2358456G>A	uc002cpy.1	-	10	1992	c.1280C>T	c.(1279-1281)gCg>gTg	p.A427V	ABCA3_uc010bsk.1_Intron|ABCA3_uc010bsl.1_Missense_Mutation_p.A427V	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	427					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A427V(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCACCTTTCGCCTCAAATTT	0.557000														107			13		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18065967	18065967	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18065967A>G	uc021trm.1	+	56	9805	c.9586A>G	c.(9586-9588)Agc>Ggc	p.S3196G	MYO15A_uc021trl.1_Missense_Mutation_p.S3194G|MYO15A_uc010vxi.2_Missense_Mutation_p.S460G|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.S185G|MYO15A_uc002gsl.3_Missense_Mutation_p.S203G|MYO15A_uc010vxm.2_Missense_Mutation_p.S118G|MYO15A_uc002gsm.1_Missense_Mutation_p.S118G|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3196	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGCTCCCCAGCAGCATAGA	0.597000														91			5		0	0	1	0	0
HTR2B	3357	broad.mit.edu	37	2	231974067	231974067	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:231974067T>G	uc002vro.3	-	3	1115	c.610A>C	c.(610-612)Aat>Cat	p.N204H	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Missense_Mutation_p.N137H	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	204					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CAAGTGATATTGTTTGGGTTG	0.418000														94			30		0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83784500	83784500	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:83784500C>A	uc003hnh.3	-	11	1660	c.1480G>T	c.(1480-1482)Gga>Tga	p.G494*	SEC31A_uc003hne.3_Nonsense_Mutation_p.G266*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.G494*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.G494*|SEC31A_uc003hng.3_Nonsense_Mutation_p.G494*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.G489*|SEC31A_uc003hni.3_Nonsense_Mutation_p.G494*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.G494*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.G494*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.G494*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.G494*|SEC31A_uc003hnn.2_Nonsense_Mutation_p.G494*|SEC31A_uc003hno.3_Nonsense_Mutation_p.G494*	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	494					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TTTCTGTATCCTAGAAGTTCA	0.308000														66			6		3.59834e-05	3.75534e-05	1	1	0
DNAJC3	5611	broad.mit.edu	37	13	96443261	96443261	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:96443261A>G	uc001vmq.3	+	11	1609	c.1492A>G	c.(1492-1494)Aga>Gga	p.R498G		NM_006260	NP_006251	Q13217	DNJC3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 3 (DNAJC3), mRNA.	498					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			CGGACCATTTAGATTTAAATT	0.418000														176			20		0	0	1	0	0
HEATR2	54919	broad.mit.edu	37	7	801405	801405	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:801405C>T	uc010krz.1	+	6	1506	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	HEATR2_uc003siz.2_Missense_Mutation_p.R364C|HEATR2_uc003sja.3_5'Flank	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	496							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTACCTGGAGCGCCTGCTGCT	0.587000														18			3		0	0	1	0	0
SERPINF2	5345	broad.mit.edu	37	17	1657648	1657648	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1657648C>T	uc002ftk.1	+	9	1373	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	SERPINF2_uc010vqr.1_Silent_p.S368S|SERPINF2_uc021tnm.1_Silent_p.S432S	NM_000934	NP_001159392	P08697	A2AP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 (SERPINF2), transcript variant 1, mRNA.	432					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TCGTGGGCAGCGTGAGGAACC	0.622000														269			55		0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371242	55371242	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55371242G>A	uc010rii.2	-	0	633	c.608C>T	c.(607-609)gCa>gTa	p.A203V		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGCAAATTGCCCCACTGTT	0.398000														136			12		0	0	1	0	0
NTS	4922	broad.mit.edu	37	12	86272330	86272330	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:86272330G>A	uc001tag.3	+	2	452	c.343G>A	c.(343-345)Gct>Act	p.A115T		NM_006183	NP_006174	P30990	NEUT_HUMAN	Homo sapiens neurotensin (NTS), mRNA.	115					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity			large_intestine(2)|lung(6)	8						TCACAGCAGGGCTTTTCAACA	0.353000														91			23		0	0	1	0	0
LRRC33	375387	broad.mit.edu	37	3	196388376	196388376	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:196388376G>A	uc003fwv.3	+	2	1966	c.1862G>A	c.(1861-1863)tGc>tAc	p.C621Y		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	621						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		ATGGTCACCTGCAACCTCTCC	0.642000														272			16		0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868033	57868033	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57868033C>A	uc010etw.3	+	3	1325	c.937C>A	c.(937-939)Ctt>Att	p.L313I	ZNF304_uc010ygw.2_Missense_Mutation_p.L266I|ZNF304_uc010etx.3_Missense_Mutation_p.L224I	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN	Homo sapiens zinc finger protein 304 (ZNF304), mRNA.	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAAATCAGCTCTTATTAATCA	0.433000														103			23		3.62473e-10	4.06567e-10	1	1	0
KIF5B	3799	broad.mit.edu	37	10	32320176	32320176	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32320176T>C	uc001iwe.4	-	13	1876	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	469					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCTTGCATATTGTCTTGATC	0.373000			T	"""RET, ALK"""	NSCLC									50			11		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923474	158923474	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158923474C>T	uc003qrf.3	+	12	4136	c.2779C>T	c.(2779-2781)Ctc>Ttc	p.L927F	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	927					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CACCTTGAGGCTCACGGCCAC	0.687000														189			42		0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43459836	43459836	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43459836C>T	uc003bdi.3	-	6	971	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	TTLL1_uc010gzh.3_Missense_Mutation_p.A244T|TTLL1_uc021wqt.1_Missense_Mutation_p.A206T|TTLL1_uc003bdj.3_Missense_Mutation_p.A130T	NM_012263	NP_036395	O95922	TTLL1_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 1 (TTLL1), transcript variant 1, mRNA.	244	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		TTCTGGATGGCGACGTTGGTG	0.532000														149			37		0	0	1	0	0
LAPTM5	7805	broad.mit.edu	37	1	31211857	31211857	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:31211857C>A	uc001bsc.2	-	4	531	c.440G>T	c.(439-441)aGc>aTc	p.S147I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	147					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCAGGATGCTCAGGCAGAA	0.542000														14			3		0.115264	0.115636	1	1	0
BTAF1	9044	broad.mit.edu	37	10	93711250	93711250	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93711250G>A	uc001khr.3	+	4	589	c.491G>A	c.(490-492)aGt>aAt	p.S164N	BTAF1_uc009xua.1_Non-coding_Transcript	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	164					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				ATTGGAATGAGTACTGAAGAA	0.373000														119			8		0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14902107	14902107	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14902107T>G	uc001mlr.3	-	2	575	c.575A>C	c.(574-576)aAt>aCt	p.N192T	CYP2R1_uc001mlp.3_Missense_Mutation_p.N75T|CYP2R1_uc001mlq.3_Non-coding_Transcript|CYP2R1_uc001mls.1_Missense_Mutation_p.N137T	NM_024514	NP_078790	Q6VVX0	CP2R1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily R, polypeptide 1 (CYP2R1), mRNA.	192					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	AATGATCAGATTGGTTATGTT	0.343000														72			13		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160256	41160256	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:41160256C>A	uc003jmk.2	-	10	1882	c.1672G>T	c.(1672-1674)Gat>Tat	p.D558Y	C6_uc003jml.1_Missense_Mutation_p.D558Y	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	558					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GATTTATAATCTGGAGACTGT	0.418000														106			30		2.24059e-21	2.74853e-21	1	1	0
DHX9	1660	broad.mit.edu	37	1	182852411	182852411	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182852411C>T	uc001gpr.3	+	24	3227	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DHX9_uc001gps.3_Missense_Mutation_p.R804C|DHX9_uc001gpt.3_Missense_Mutation_p.R297C|DHX9_uc009wyd.3_Intron	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	1018					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CACTGAAGGGCGTAATGCACT	0.393000														98			18		0	0	1	0	0
RACGAP1P	83956	broad.mit.edu	37	12	45459075	45459075	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:45459075C>T	uc001rol.3	-	0		c.120G>A								Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA.																		CCTTGAGAATCTCCGCCCCGC	0.478000														51			10		0	0	1	0	0
BRD4	23476	broad.mit.edu	37	19	15366169	15366169	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15366169G>A	uc002nar.3	-	9	2208	c.1986C>T	c.(1984-1986)tcC>tcT	p.S662S	BRD4_uc002nas.3_Silent_p.S662S|BRD4_uc002nat.3_Silent_p.S662S	NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	662					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CACGCAGTGTGGACGGCTTCA	0.582000			T	C15orf55	lethal midline carcinoma of young people									156			9		0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529987	5529987	+	Missense_Mutation	SNP	C	T	T	rs144033515	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5529987C>T	uc021qcw.1	-	0	802	c.802G>A	c.(802-804)Gca>Aca	p.A268T	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.A268T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	268										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTGGACTGCGTTAAGCATT	0.517000														177			41		0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33582190	33582190	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33582190C>A	uc002xbi.2	+	26	3129	c.2812C>A	c.(2812-2814)Ctg>Atg	p.L938M		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	896						membrane|myosin filament	ATP binding|actin binding|motor activity	p.A937A(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGACCTGGCCCTGCAGCTGCA	0.672000														99			11		1.58986e-06	1.69271e-06	1	1	0
CR1L	1379	broad.mit.edu	37	1	207881576	207881576	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207881576C>T	uc001hga.4	+	9	1503	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	CR1L_uc001hfz.2_Intron|CR1L_uc001hgb.1_Intron	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	461	Sushi 7.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAATACTGCCCATTGGAGC	0.433000														243			10		0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124111572	124111572	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:124111572G>A	uc004blh.3	-	4	431	c.351C>T	c.(349-351)agC>agT	p.S117S	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Silent_p.S66S	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	117					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CACCATCCACGCTAATTGTCA	0.418000														77			18		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282672	53282672	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282672T>C	uc001vhf.2	-	6	900	c.789_splice	c.e6+1	p.H263_splice	LECT1_uc001vhg.2_Splice_Site_p.H263_splice|LECT1_uc001vhh.2_Splice_Site_p.H252_splice	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	263					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		GGAACGCACATGATAAGGATT	0.488000														75			13		0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121132069	121132069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121132069C>T	uc003eec.4	+	24	3225	c.3085C>T	c.(3085-3087)Cga>Tga	p.R1029*	STXBP5L_uc011bji.2_Nonsense_Mutation_p.R1005*	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	1029					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGGATAGCACGAACATTTTG	0.383000														100			23		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698688	150698688	+	Silent	SNP	C	A	A	rs149990866	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698688C>A	uc003wif.3	+	11	1781	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	NOS3_uc011kuy.2_Silent_p.T289T|NOS3_uc011kva.2_Silent_p.T495T|NOS3_uc011kuz.2_Silent_p.T495T|NOS3_uc011kvb.2_Silent_p.T495T	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	495	Calmodulin-binding (Potential).				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGAAGAAGACCTTTAAAGAAG	0.642000														409			73		2.37984e-18	2.87443e-18	1	1	0
ICAM2	3384	broad.mit.edu	37	17	62080179	62080179	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62080179C>T	uc002jdu.4	-	3	988	c.756G>A	c.(754-756)ttG>ttA	p.L252L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Silent_p.L252L|ICAM2_uc010ded.3_Silent_p.L252L|ICAM2_uc002jdx.4_Silent_p.L252L|ICAM2_uc002jdv.4_Silent_p.L252L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	252					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GCTGCTGGCGCAAGTGCTGGC	0.622000														73			16		0	0	1	0	0
ZNF341	84905	broad.mit.edu	37	20	32333101	32333101	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32333101G>A	uc002wzy.3	+	2	355	c.335G>A	c.(334-336)cGc>cAc	p.R112H	ZNF341_uc002wzx.3_Missense_Mutation_p.R112H|ZNF341_uc010geq.3_Intron|ZNF341_uc010ger.3_Non-coding_Transcript	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	Homo sapiens zinc finger protein 341 (ZNF341), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCTGCCAATCGCCAGGTATTT	0.547000														88			22		0	0	1	0	0
ATF7IP	55729	broad.mit.edu	37	12	14634068	14634068	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:14634068C>T	uc001rbw.3	+	12	3387	c.3229C>T	c.(3229-3231)Cga>Tga	p.R1077*	ATF7IP_uc001rbv.1_Nonsense_Mutation_p.R1076*|ATF7IP_uc001rbx.3_Nonsense_Mutation_p.R1076*|ATF7IP_uc001rby.4_Nonsense_Mutation_p.R1077*|ATF7IP_uc001rca.3_Nonsense_Mutation_p.R1077*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1077					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GGCTCCCTTGCGAGGAACTGT	0.488000														129			22		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89537566	89537566	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:89537566G>A	uc001pdb.3	-	2	401	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	24						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGGTGACCGGGTCTATGAAGT	0.468000														118			16		0	0	1	0	0
TNNT3	7140	broad.mit.edu	37	11	1955621	1955621	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:1955621G>T	uc001luu.4	+	11	638	c.426G>T	c.(424-426)aaG>aaT	p.K142N	TNNT3_uc001lun.2_Missense_Mutation_p.K38N|TNNT3_uc001luw.4_Missense_Mutation_p.K134N|TNNT3_uc001luo.4_Missense_Mutation_p.K134N|TNNT3_uc001lup.4_Missense_Mutation_p.K140N|TNNT3_uc001luq.4_Missense_Mutation_p.K134N|TNNT3_uc001lur.3_Missense_Mutation_p.K134N|TNNT3_uc010qxf.2_Missense_Mutation_p.K140N|TNNT3_uc010qxg.2_Missense_Mutation_p.K74N	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	153					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.L141L(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		ACGACCTGAAGAAGAAGAAAG	0.582000														73			6		0.00198382	0.00202356	1	1	0
PYGO2	90780	broad.mit.edu	37	1	154932183	154932183	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:154932183G>T	uc001fft.3	-	2	499	c.293C>A	c.(292-294)cCt>cAt	p.P98H		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	98	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAAGGGCACAGGACTGCCAAG	0.642000														67			19		2.94398e-08	3.21697e-08	1	1	0
MKX	283078	broad.mit.edu	37	10	27964176	27964176	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27964176C>T	uc001ity.4	-	6	1266	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_uc001itx.4_Silent_p.P347P	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463000														138			24		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1874553	1874553	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:1874553C>A	uc003wpr.3	+	22	2799	c.2621C>A	c.(2620-2622)gCt>gAt	p.A874D	ARHGEF10_uc003wps.3_Missense_Mutation_p.A836D|ARHGEF10_uc003wpv.3_Missense_Mutation_p.A606D|ARHGEF10_uc010lre.3_Intron	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	899					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)		ATTGAATGTGCTGCTTATAAC	0.378000														78			7		0.0381472	0.038366	1	1	0
NSD1	64324	broad.mit.edu	37	5	176639155	176639155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176639155G>A	uc003mfr.4	+	4	3893	c.3755G>A	c.(3754-3756)gGa>gAa	p.G1252E	NSD1_uc003mft.4_Missense_Mutation_p.G983E|NSD1_uc003mfs.1_Missense_Mutation_p.G1149E|NSD1_uc011dfx.2_Missense_Mutation_p.G900E	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	1252					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AAGGAGCCAGGAATTCCCAGT	0.423000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)				84			7		0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8113534	8113534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:8113534C>T	uc002knn.4	+	11	2410	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	PTPRM_uc010dkv.3_Missense_Mutation_p.T636M|PTPRM_uc010wzl.2_Missense_Mutation_p.T423M	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	636	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTAAAAAGACGACAGAAATC	0.388000														89			24		0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140069809	140069809	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140069809G>T	uc004clr.1	-	11	2209	c.2136C>A	c.(2134-2136)acC>acA	p.T712T	ANAPC2_uc004clq.1_Silent_p.T568T	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	712					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGACAGAGAAGGTGCCGGGGG	0.662000														65			11		0.000978159	0.0010017	1	1	0
CYP26A1	1592	broad.mit.edu	37	10	94834670	94834670	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:94834670C>T	uc001kil.2	+	2	594	c.549C>T	c.(547-549)cgC>cgT	p.R183R	CYP26A1_uc001kik.1_Silent_p.R114R	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	183					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				AGGTGAAGCGCCTCATGTTCC	0.652000														192			48		0	0	1	0	0
CLDN17	26285	broad.mit.edu	37	21	31538308	31538308	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:31538308G>A	uc011acv.2	-	0	664	c.628C>T	c.(628-630)Cga>Tga	p.R210*		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	210					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GTATTTCTTCGCTTATCTGTG	0.453000														108			18		0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155556568	155556568	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:155556568G>A	uc010lqk.1	+	14	3410	c.3042G>A	c.(3040-3042)ccG>ccA	p.P1014P	RBM33_uc011kvv.1_Silent_p.P824P|RBM33_uc003wmg.2_5'UTR	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	1014							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCCAGCCTCCGGAAGTGGGAC	0.657000														33			8		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110478960	110478960	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110478960C>A	uc003yne.3	+	49	8671	c.8567C>A	c.(8566-8568)tCt>tAt	p.S2856Y		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2856					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTCCAGTATCTCTGCTTGAA	0.398000										HNSCC(38;0.096)				39			4		0.150653	0.151008	1	1	0
INF2	64423	broad.mit.edu	37	14	105179212	105179212	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105179212C>T	uc001ypb.2	+	17	2801	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	INF2_uc001ypc.2_Silent_p.I886I|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	886	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TTGAGGCCATCGAGCAGAAGC	0.652000														104			21		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161784	2161784	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2161784G>A	uc002cos.1	-	14	3593	c.3384C>T	c.(3382-3384)tcC>tcT	p.S1128S	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.S1128S	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1128	PKD 5.|PKD 6.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.S1128T(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCACAGCCACGGAGGGCAGGG	0.672000														55			15		0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158349734	158349734	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:158349734C>T	uc003qqv.1	+	12	1461	c.1288_splice	c.e12+1	p.P430_splice		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	430	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGCACGGGCCGTAAGTCCAC	0.597000														32			4		0	0	1	0	0
C1orf187	374946	broad.mit.edu	37	1	11775243	11775243	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11775243C>T	uc001asr.1	+	5	1055	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_198545	NP_940947	Q8NBI3	DRAXI_HUMAN	Homo sapiens chromosome 1 open reading frame 187 (C1orf187), mRNA.	305					Wnt receptor signaling pathway|axon guidance|commissural neuron differentiation in spinal cord|dorsal spinal cord development|forebrain development|negative regulation of canonical Wnt receptor signaling pathway	extracellular region				breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(2)	15	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.48e-06)|COAD - Colon adenocarcinoma(227;0.000283)|BRCA - Breast invasive adenocarcinoma(304;0.000316)|Kidney(185;0.000841)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|STAD - Stomach adenocarcinoma(313;0.00754)|READ - Rectum adenocarcinoma(331;0.0651)		ACAAATGCTTCGATGACTGCA	0.582000														133			47		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333489	70333489	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:70333489C>A	uc001jok.4	+	1	1899	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	465					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GTCCAGGGTGCTATACAGATT	0.438000														69			20		1.56452e-12	1.80666e-12	1	1	0
INADL	10207	broad.mit.edu	37	1	62366960	62366960	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:62366960G>A	uc001dab.3	+	23	3324	c.3210G>A	c.(3208-3210)gaG>gaA	p.E1070E	INADL_uc009waf.1_Silent_p.E1070E|INADL_uc001daa.2_Silent_p.E1070E|INADL_uc001dad.3_Silent_p.E767E|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1070	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ATAGTGTTGAGATTTTTAGAG	0.338000														72			7		0	0	1	0	0
QKI	9444	broad.mit.edu	37	6	163836318	163836318	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:163836318G>A	uc003qui.3	+	0	644	c.93G>A	c.(91-93)ctG>ctA	p.L31L	QKI_uc003quj.3_Silent_p.L31L|QKI_uc003quh.3_Silent_p.L31L|QKI_uc003que.3_Silent_p.L31L|QKI_uc003quf.3_Silent_p.L31L|QKI_uc003qug.3_Silent_p.L31L|CAHM_uc021zib.1_5'Flank	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	31					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	p.L31L(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGAGCAGCCTGCCCAACTTCT	0.642000														154			34		0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74392554	74392554	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74392554C>T	uc002jrm.4	-	13	2529	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	UBE2O_uc002jrn.4_Missense_Mutation_p.E822K|UBE2O_uc002jrl.4_Missense_Mutation_p.E426K	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	822							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGAGGCTCTCCAGGATCTTG	0.607000														564			20		0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32906448	32906448	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32906448G>A	uc001uub.1	+	9	1060	c.833G>A	c.(832-834)aGc>aAc	p.S278N	BRCA2_uc001uua.1_Missense_Mutation_p.S155N	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	278					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)		AAAGTAAATAGCTGCAAAGAC	0.289000			"""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)				61			14		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11532855	11532855	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:11532855G>T	uc002gne.3	+	6	1540	c.1472G>T	c.(1471-1473)aGg>aTg	p.R491M		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	491	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGATGTACAGGCTTCTCTCA	0.547000														141			16		3.45872e-05	3.61362e-05	1	1	0
XRN2	22803	broad.mit.edu	37	20	21346218	21346218	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21346218G>T	uc002wsf.1	+	25	2427	c.2332G>T	c.(2332-2334)Gca>Tca	p.A778S	XRN2_uc002wsg.1_Missense_Mutation_p.A702S|XRN2_uc010zsk.1_Missense_Mutation_p.A724S	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	778					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CAGAAAGCCAGCAGCAGTACT	0.443000														142			25		2.12542e-12	2.45163e-12	1	1	0
FOLR1	2348	broad.mit.edu	37	11	71906964	71906964	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:71906964G>A	uc001orz.2	+	5	793	c.517G>A	c.(517-519)Gct>Act	p.A173T	FOLR1_uc001osa.2_Missense_Mutation_p.A173T|FOLR1_uc001osb.2_Missense_Mutation_p.A173T|FOLR1_uc001osd.2_Missense_Mutation_p.A173T	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	173					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CGCAGTGGGAGCTGCCTGCCA	0.527000														205			36		0	0	1	0	0
IMPACT	55364	broad.mit.edu	37	18	22029853	22029853	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:22029853G>A	uc002kvh.4	+	9	942	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IMPACT_uc002kvg.4_Missense_Mutation_p.R259H	NM_018439	NP_060909	Q9P2X3	IMPCT_HUMAN	Homo sapiens Impact homolog (mouse) (IMPACT), mRNA.	277										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					GGACCAGATCGCTTTAAACAT	0.378000														101			24		0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9453386	9453386	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:9453386G>A	uc002mle.4	+	5	1858	c.1451G>A	c.(1450-1452)cGa>cAa	p.R484Q	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Missense_Mutation_p.R378Q|ZNF559_uc010xkn.2_Missense_Mutation_p.R412Q|ZNF559_uc021uok.1_Missense_Mutation_p.R420Q|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						GCCTTCATTCGATCCTCATTT	0.418000														101			20		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703541	88703541	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88703541C>T	uc001kea.3	-	5	1127	c.1000G>A	c.(1000-1002)Gac>Aac	p.D334N	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.D291N	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	334						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AATTTGGTGTCCACATCGGCT	0.632000														124			36		0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184102964	184102964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184102964C>T	uc003fov.3	+	13	2002	c.1756C>T	c.(1756-1758)Ctc>Ttc	p.L586F	CHRD_uc003fow.3_Missense_Mutation_p.L216F|CHRD_uc003fox.3_Missense_Mutation_p.L586F|CHRD_uc003foy.3_Missense_Mutation_p.L216F|CHRD_uc010hyc.3_Missense_Mutation_p.L176F|CHRD_uc011brr.2_Missense_Mutation_p.L216F	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	586	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CACTGCCCACCTCCTTGGGCC	0.592000														289			74		0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12726629	12726629	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12726629G>A	uc001auf.3	+	3	1107	c.1107G>A	c.(1105-1107)tgG>tgA	p.W369*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	369						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|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;0.0384)		GCGTGACATGGTACCACCTGT	0.478000														204			31		0	0	1	0	0
ADH1A	124	broad.mit.edu	37	4	100208091	100208091	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:100208091C>A	uc003hur.2	-	2	289	c.175G>T	c.(175-177)Gtg>Ttg	p.V59L	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.V59L	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	59					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTGGGGTCACCATGGTACCA	0.488000														196			60		1.73933e-33	2.19787e-33	1	1	0
NECAP2	55707	broad.mit.edu	37	1	16770133	16770133	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:16770133G>A	uc001ayq.3	+	1	189	c.99G>A	c.(97-99)gcG>gcA	p.A33A	NECAP2_uc001ayo.3_Silent_p.A33A|NECAP2_uc010ocd.2_Silent_p.A7A	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	33					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGGGCTGCGGAGTGGCAGC	0.572000														27			3		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21986450	21986450	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21986450G>A	uc003xas.3	-	1	899	c.234C>T	c.(232-234)ggC>ggT	p.G78G	HR_uc003xat.3_Silent_p.G78G|HR_uc010lts.2_Silent_p.G78G	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	78							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGGGCCCTCGCCCTCCACAA	0.652000														127			33		0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108198454	108198454	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:108198454C>A	uc001pkb.1	+	47	7443	c.7058C>A	c.(7057-7059)cCt>cAt	p.P2353H	ATM_uc009yxr.1_Missense_Mutation_p.P2353H|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.P1005H|ATM_uc001pkg.1_Missense_Mutation_p.P710H	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2353	FAT.				DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity	p.P2353T(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TTAGAAAATCCTGCGGTCATC	0.388000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)				44			10		1.76689e-08	1.93511e-08	1	1	0
CEP89	84902	broad.mit.edu	37	19	33444582	33444582	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:33444582C>A	uc002nty.3	-	3	520	c.431G>T	c.(430-432)aGt>aTt	p.S144I	CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.S144I|CEP89_uc002nub.1_Missense_Mutation_p.S36I	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	144						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						CTCCCGGGCACTGACATCCCC	0.498000														373			44		4.18559e-23	5.1768e-23	1	1	0
ZKSCAN4	387032	broad.mit.edu	37	6	28213078	28213078	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28213078A>G	uc003nks.1	-	4	1698	c.1454T>C	c.(1453-1455)gTg>gCg	p.V485A	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.V330A	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	485					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P484P(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTTATAAGACACGGGAGCCTC	0.443000														162			18		0	0	1	0	0
SLC25A42	284439	broad.mit.edu	37	19	19221530	19221530	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19221530G>A	uc002nlf.2	+	7	958	c.802G>A	c.(802-804)Gcc>Acc	p.A268T		NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	268					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			CGCCTCCATCGCCCGCACGCT	0.711000														45			17		0	0	1	0	0
TSGA10	80705	broad.mit.edu	37	2	99722093	99722093	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:99722093G>A	uc002szg.4	-	5	906	c.278C>T	c.(277-279)aCg>aTg	p.T93M	TSGA10_uc002szh.4_Missense_Mutation_p.T93M|TSGA10_uc002szi.4_Missense_Mutation_p.T93M|TSGA10_uc010fin.1_Missense_Mutation_p.T93M|TSGA10_uc010yvn.1_Missense_Mutation_p.T93M	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	93					spermatogenesis	cytoplasm|nuclear membrane		p.T93M(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						AGCATGTGCCGTTGTTGATTT	0.413000														202			68		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38142955	38142955	+	Missense_Mutation	SNP	G	A	A	rs142347522		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38142955G>A	uc002htn.1	+	2	703	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.R81H	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	180					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					AACAGCAAGCGCTACAAAGAG	0.537000														229			50		0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18536328	18536328	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:18536328G>T	uc001mor.3	-	3	394	c.254C>A	c.(253-255)cCt>cAt	p.P85H	TSG101_uc001mos.2_Missense_Mutation_p.P33H|TSG101_uc009yhs.2_Intron	NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	85	UEV.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AAAACAGATAGGGGGATTATA	0.323000														157			28		1.30897e-18	1.58338e-18	1	1	0
CHD8	57680	broad.mit.edu	37	14	21863231	21863231	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21863231C>T	uc001war.2	-	28	5295	c.5230G>A	c.(5230-5232)Gcc>Acc	p.A1744T	CHD8_uc001was.2_Missense_Mutation_p.A1465T|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1744					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCTGTTAGGGCAGAGCCCGGA	0.522000														60			7		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411819	51411819	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:51411819C>A	uc001nhi.2	-	0	630	c.577G>T	c.(577-579)Ggc>Tgc	p.G193C		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAGTGAGGCCTATAAAGTAG	0.428000														76			11		1.58986e-06	1.69271e-06	1	1	0
HELZ	9931	broad.mit.edu	37	17	65083046	65083046	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:65083046A>C	uc010wqk.2	-	31	5583	c.5396T>G	c.(5395-5397)tTt>tGt	p.F1799C	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.F1798C	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CGGGGATGAAAAGTTGAAAGA	0.473000														145			38		0	0	1	0	0
OPA3	80207	broad.mit.edu	37	19	46087992	46087992	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:46087992G>T	uc002pcj.4	-	0	131	c.31C>A	c.(31-33)Ctg>Atg	p.L11M	OPA3_uc002pck.4_Missense_Mutation_p.L11M|OPA3_uc010xxk.2_Intron	NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	11					response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		AAGTATAGCAGCTTCGCCATA	0.622000														140			39		9.45814e-24	1.17287e-23	1	1	0
WDR17	116966	broad.mit.edu	37	4	177069319	177069319	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:177069319G>A	uc003iuj.3	+	13	2105	c.1802G>A	c.(1801-1803)tGc>tAc	p.C601Y	WDR17_uc003ium.4_Missense_Mutation_p.C577Y|WDR17_uc003iul.2_Intron|WDR17_uc003iun.3_5'Flank	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	601										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGGATGCTTGCATCAATATT	0.363000														116			20		0	0	1	0	0
DDO	8528	broad.mit.edu	37	6	110729641	110729641	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:110729641T>C	uc003puc.3	-	2	265	c.261A>G	c.(259-261)acA>acG	p.T87T	METTL24_uc003pub.2_5'UTR|DDO_uc003pud.3_Silent_p.T87T	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	59					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		TGTGAATGGGTGTATCTGTAA	0.393000														62			10		0	0	1	0	0
YIPF2	78992	broad.mit.edu	37	19	11034607	11034607	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11034607G>A	uc002mqc.3	-	6	680	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	DQ597473_uc021upb.1_5'Flank|YIPF2_uc002mqb.3_Missense_Mutation_p.R185W	NM_024029	NP_076934	Q9BWQ6	YIPF2_HUMAN	Homo sapiens Yip1 domain family, member 2 (YIPF2), mRNA.	185						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						TTGCGCCACCGCAGGAAGCCC	0.637000														49			17		0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19642312	19642312	+	Missense_Mutation	SNP	C	T	T	rs146494364		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:19642312C>T	uc002ykw.3	-	24	3065	c.3034G>A	c.(3034-3036)Gaa>Aaa	p.E1012K		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	1012	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGTATCCATTCGGTAAACCTT	0.423000														80			21		0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101689296	101689296	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:101689296C>A	uc001tia.1	+	11	1446	c.1290C>A	c.(1288-1290)tgC>tgA	p.C430*		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	430					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTGTGAATTGCTTCTTAATTG	0.373000														31			9		2.17888e-05	2.28139e-05	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143708593	143708593	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:143708593G>A	uc003evo.3	+	2	1738	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	C3orf58_uc011bnl.2_Silent_p.E192E	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	401						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGCTGGATGAGTGTGCCAACC	0.507000														107			22		0	0	1	0	0
GGT5	2687	broad.mit.edu	37	22	24622114	24622114	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24622114C>T	uc002zzp.4	-	7	1576	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	GGT5_uc002zzo.4_Missense_Mutation_p.G387S|GGT5_uc002zzr.4_Missense_Mutation_p.G355S|GGT5_uc002zzq.4_Missense_Mutation_p.G355S|GGT5_uc011ajm.2_Missense_Mutation_p.G310S|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	387					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGGGACGTGCCTGTCCCGTGG	0.692000														66			15		0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28380972	28380972	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:28380972T>C	uc002het.3	+	9	2192	c.2000T>C	c.(1999-2001)aTa>aCa	p.I667T	EFCAB5_uc010wbi.1_Missense_Mutation_p.I410T|EFCAB5_uc010wbj.2_Missense_Mutation_p.I611T|EFCAB5_uc010wbk.2_Missense_Mutation_p.I324T|EFCAB5_uc010csd.3_Non-coding_Transcript|EFCAB5_uc010cse.3_Missense_Mutation_p.I546T|EFCAB5_uc010csf.3_Missense_Mutation_p.I546T	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	667							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAAGAAGACATAGGCTCAACT	0.378000														58			5		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176129	112176129	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:112176129C>A	uc003kpz.4	+	16	5031	c.4838C>A	c.(4837-4839)cCt>cAt	p.P1613H	APC_uc011cvt.2_Missense_Mutation_p.P1595H|APC_uc003kpy.4_Missense_Mutation_p.P1613H|APC_uc010jbz.3_Missense_Mutation_p.P1330H|APC_uc010jca.3_Missense_Mutation_p.P913H	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1613	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGTCAGCTGCCTGTGTACAAA	0.463000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				255			31		1.61788e-16	1.92999e-16	1	1	0
AKR1B15	441282	broad.mit.edu	37	7	134252965	134252965	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134252965G>A	uc011kpr.2	+	3	505	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	69							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						GCAGAATATCGCCACATTGAC	0.443000														148			31		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	845593	845593	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:845593C>T	uc003gbm.4	-	24	3652	c.3453G>A	c.(3451-3453)tcG>tcA	p.S1151S	GAK_uc003gbn.4_Silent_p.S1072S|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.S1004S	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	1151					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	p.S1151S(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CACTGAAGTTCGAGGCATAGT	0.667000														151			38		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528762	57528762	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:57528762C>T	uc011kdi.1	+	3	707	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						CATGCTTTCACGCCTAAATCA	0.338000														13			4		0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12963203	12963203	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12963203C>T	uc002mvm.3	+	9	1199	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	MAST1_uc021upp.1_Silent_p.L181L	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	357					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.D356V(1)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						AAGACGATCTCTCTGAGGTAA	0.592000														136			22		0	0	1	0	0
TRAK2	66008	broad.mit.edu	37	2	202254168	202254168	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:202254168A>G	uc002uyb.4	-	11	1698	c.1252T>C	c.(1252-1254)Tct>Cct	p.S418P		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	418	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding	p.R417C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						AATGAGATAGAGCGGCCCCGT	0.483000														150			17		0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28609635	28609635	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:28609635G>A	uc001urw.3	-	11	1676	c.1594C>T	c.(1594-1596)Cca>Tca	p.P532S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P532S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	532					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTACCTGGAGAGTTTAAA	0.438000			"""Mis, O"""		"""AML, ALL"""									105			25		0	0	1	0	0
HOXD9	3235	broad.mit.edu	37	2	176987568	176987568	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176987568G>A	uc010zex.2	+	0	156	c.72G>A	c.(70-72)tcG>tcA	p.S24S		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	24						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		ACGTGGACTCGCTTATAGGCC	0.687000														77			16		0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133815997	133815997	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:133815997T>G	uc001qgx.4	-	1	452	c.221A>C	c.(220-222)aAg>aCg	p.K74T	IGSF9B_uc001qgz.2_Non-coding_Transcript	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	74	Ig-like 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTAGCCAAACTTGATGAAGAT	0.617000														36			5		0	0	1	0	0
TLE1	7088	broad.mit.edu	37	9	84205779	84205779	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:84205779G>T	uc004alz.3	-	15	2241	c.1800C>A	c.(1798-1800)ttC>ttA	p.F600L	TLE1_uc004aly.3_Missense_Mutation_p.F590L|TLE1_uc011lsr.2_Missense_Mutation_p.F575L|TLE1_uc004ama.1_Missense_Mutation_p.F589L	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	590					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGCAGCATGAGAAGCAGACCT	0.617000														213			55		4.1673e-28	5.22945e-28	1	1	0
RGPD3	653489	broad.mit.edu	37	2	107040937	107040937	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107040937C>T	uc010ywi.1	-	19	3543	c.3486G>A	c.(3484-3486)caG>caA	p.Q1162Q		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1162	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTCAAATTTCTGCTTGAATT	0.448000														201			34		0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15468794	15468794	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:15468794G>T	uc003nbj.3	+	4	759	c.515G>T	c.(514-516)aGc>aTc	p.S172I	JARID2_uc011diu.1_Missense_Mutation_p.S36I|JARID2_uc011div.2_5'UTR|JARID2_uc011diw.1_Missense_Mutation_p.S134I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	172					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	p.S172I(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CTGCCCAACAGCATGGTGTAT	0.473000														95			17		2.23348e-06	2.37297e-06	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23927387	23927387	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23927387G>A	uc002nrk.4	-	3	1107	c.965C>T	c.(964-966)tCc>tTc	p.S322F	ZNF681_uc002nrl.4_Missense_Mutation_p.S253F|ZNF681_uc002nrj.4_Missense_Mutation_p.S253F	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGGTGTGAGGACTGGTTGAA	0.388000														81			11		0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131830525	131830525	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:131830525G>A	uc004bxa.3	+	12	1504	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	FAM73B_uc004bwy.3_Non-coding_Transcript|FAM73B_uc004bwz.3_Non-coding_Transcript|FAM73B_uc011mbn.1_Missense_Mutation_p.D440N|FAM73B_uc004bxb.3_5'Flank	NM_032809	NP_116198	Q7L4E1	FA73B_HUMAN	Homo sapiens family with sequence similarity 73, member B (FAM73B), mRNA.	440						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						CATCCTCATGGACGCCTTCGA	0.642000														168			33		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679957	3679957	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3679957G>T	uc002wja.3	-	6	1678	c.1678C>A	c.(1678-1680)Ctc>Atc	p.L560I	SIGLEC1_uc002wiz.4_Missense_Mutation_p.L560I	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	560	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGGAGCAGGAGGCTGCTGCCG	0.672000														35			4		2.56e-06	2.71868e-06	1	1	0
FGFR3	2261	broad.mit.edu	37	4	1807392	1807392	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1807392G>A	uc003gdr.3	+	11	1897	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	FGFR3_uc003gdu.2_Silent_p.Q549Q|FGFR3_uc003gds.3_Silent_p.Q435Q|FGFR3_uc003gdq.3_Silent_p.Q548Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	547	Protein kinase.				JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CCTGCACGCAGGGCGGTAGGT	0.647000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome					147			30		0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237597	56237597	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:56237597T>G	uc010rjk.2	-	0	418	c.377A>C	c.(376-378)aAt>aCt	p.N126T	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)					AAGCAGAGGATTCCCAATTGC	0.398000														175			30		0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40702280	40702280	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40702280A>C	uc001rmg.4	+	28	4092	c.3971A>C	c.(3970-3972)cAg>cCg	p.Q1324P	LRRK2_uc009zjw.3_Missense_Mutation_p.Q162P|LRRK2_uc001rmi.3_Missense_Mutation_p.Q157P	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1324					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCAACAGCGATTAAAA	0.318000														32			13		0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403028	42403028	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:42403028G>T	uc003gwp.3	+	2	496	c.278_splice	c.e2-1	p.Q93_splice		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	93					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						TTGCCTTTTAGAGCCTGTCTA	0.488000														225			52		2.81731e-22	3.47067e-22	1	1	0
WDR4	10785	broad.mit.edu	37	21	44272427	44272427	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:44272427G>A	uc002zci.3	-	9	1056	c.983C>T	c.(982-984)cCt>cTt	p.P328L	WDR4_uc002zck.1_Missense_Mutation_p.P328L|WDR4_uc002zcl.1_Missense_Mutation_p.P182L|WDR4_uc010gpg.1_Missense_Mutation_p.P327L|WDR4_uc011aew.1_Missense_Mutation_p.P182L|WDR4_uc010gph.1_Missense_Mutation_p.P182L	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	328					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		GGTGCTCTCAGGAACAGACTG	0.567000														36			16		0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217645	87217645	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:87217645G>A	uc002blz.1	+	21	3141	c.3061G>A	c.(3061-3063)Gct>Act	p.A1021T		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	1021					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGAGGAGGACGCTCTGGACCA	0.532000														52			9		0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47563037	47563037	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:47563037G>A	uc003gxk.1	+	13	2777	c.2613G>A	c.(2611-2613)agG>agA	p.R871R	ATP10D_uc003gxl.1_Silent_p.R119R	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	871					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTGACAACAGGGAAGAATTAC	0.383000														168			36		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126412394	126412394	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126412394G>A	uc003ifj.4	+	16	14417	c.14417G>A	c.(14416-14418)tGc>tAc	p.C4806Y	FAT4_uc011cgp.2_Missense_Mutation_p.C3047Y|FAT4_uc003ifi.1_Missense_Mutation_p.C2283Y	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4806					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAAGTATCTGCAGTGCAGAC	0.522000														152			9		0	0	1	0	0
ZNF366	167465	broad.mit.edu	37	5	71739689	71739689	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:71739689C>T	uc003kce.1	-	4	2315	c.2129G>A	c.(2128-2130)cGg>cAg	p.R710Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	710					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		AGAGGGGCCCCGCCGGGTACT	0.502000														292			12		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49421001	49421001	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49421001C>T	uc001rta.4	-	47	14748	c.14748G>A	c.(14746-14748)ccG>ccA	p.P4916P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4916	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.P4916P(1)|p.P4646P(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGGAAGGGGGCGGGGAGGGTT	0.637000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				155			30		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36876271	36876271	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:36876271G>T	uc003cgj.3	-	19	5761	c.5513C>A	c.(5512-5514)gCt>gAt	p.A1838D		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1838					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGCAATAGCAGCTTCTTCAAA	0.483000														84			22		3.62473e-10	4.06567e-10	1	1	0
ARHGAP39	80728	broad.mit.edu	37	8	145770921	145770921	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145770921C>T	uc003zds.1	-	6	2788	c.2233G>A	c.(2233-2235)Gag>Aag	p.E745K	ARHGAP39_uc011llk.1_Missense_Mutation_p.E745K|ARHGAP39_uc003zdt.1_Missense_Mutation_p.E745K	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	745	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTGAAGAGCTCGCAGGCCTCC	0.632000														108			10		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46419227	46419227	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46419227G>A	uc001ncv.2	-	19	3993	c.3679C>T	c.(3679-3681)Cga>Tga	p.R1227*	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.R1195*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.R1134*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.R1224*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.R1105*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.R1164*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1224					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CTTAGGCCTCGCTCTGCCAGT	0.692000														121			22		0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44586501	44586501	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44586501C>T	uc011aqe.2	+	6	883	c.459C>T	c.(457-459)gaC>gaT	p.D153D	PARVG_uc003bep.3_Silent_p.D153D|PARVG_uc011aqf.2_Silent_p.D153D|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	153					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCAGCCCGACCTCTCCCTCC	0.607000														133			36		0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79064008	79064008	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:79064008C>A	uc002bej.4	-	14	2506	c.2295G>T	c.(2293-2295)ggG>ggT	p.G765G	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Silent_p.G765G	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	765	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TGAAGGTGGTCCCTGCCACCT	0.642000														86			14		0.00244969	0.00249783	1	1	0
WDR48	57599	broad.mit.edu	37	3	39116241	39116241	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:39116241A>G	uc003cit.3	+	7	707	c.697A>G	c.(697-699)Aca>Gca	p.T233A	WDR48_uc011ayt.1_Missense_Mutation_p.T224A|WDR48_uc011ayu.1_Missense_Mutation_p.T151A|WDR48_uc011ayv.1_Missense_Mutation_p.T25A|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	233					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTCTGATGGGACAATTCGCCT	0.483000														97			32		0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472130	71472130	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71472130A>G	uc003hfl.3	+	12	1128	c.1027A>G	c.(1027-1029)Aca>Gca	p.T343A		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	343					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCTTTCCTTACAGAGCTAGA	0.582000														75			18		0	0	1	0	0
CTNNA1	1495	broad.mit.edu	37	5	138260271	138260271	+	Missense_Mutation	SNP	G	A	A	rs139655691	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138260271G>A	uc003ldh.3	+	11	1714	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	CTNNA1_uc011cyx.2_Missense_Mutation_p.R437H|CTNNA1_uc011cyy.2_Missense_Mutation_p.R417H|CTNNA1_uc003ldi.3_Missense_Mutation_p.R238H|CTNNA1_uc003ldj.3_Missense_Mutation_p.R540H|CTNNA1_uc003ldl.3_Missense_Mutation_p.R170H	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	540					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCCTGGACCGCACAGCTGGT	0.498000														64			12		0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75704231	75704231	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:75704231G>A	uc010oqz.1	-	8	806	c.740C>T	c.(739-741)aCa>aTa	p.T247I	SLC44A5_uc001dgt.2_Missense_Mutation_p.T208I|SLC44A5_uc001dgs.2_Missense_Mutation_p.T166I|SLC44A5_uc001dgr.2_Missense_Mutation_p.T166I|SLC44A5_uc001dgu.3_Missense_Mutation_p.T208I|SLC44A5_uc010ora.2_Missense_Mutation_p.T202I|SLC44A5_uc010orb.2_Missense_Mutation_p.T78I	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	208						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACTTCTTGTCCCTCCATT	0.378000														65			17		0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118984608	118984608	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:118984608A>G	uc001pvn.3	+	11	1895	c.1536A>G	c.(1534-1536)acA>acG	p.T512T	C2CD2L_uc001pvo.3_Silent_p.T511T	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	511						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						TAGCAGAGACAGCGATTCGCC	0.567000														129			28		0	0	1	0	0
ZYX	7791	broad.mit.edu	37	7	143079460	143079460	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:143079460G>T	uc003wcx.3	+	2	486	c.328G>T	c.(328-330)Gag>Tag	p.E110*	ZYX_uc011ktd.2_5'UTR|ZYX_uc003wcw.3_Nonsense_Mutation_p.E110*|ZYX_uc011kte.2_Nonsense_Mutation_p.E110*|ZYX_uc011ktf.2_5'UTR	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	110					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding	p.E110E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					TGCGCCTCTGGAGGAGGAGAT	0.701000														73			6		2.0095e-06	2.13635e-06	1	1	0
TCF20	6942	broad.mit.edu	37	22	42609324	42609324	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42609324C>T	uc003bcj.1	-	0	2122	c.1988G>A	c.(1987-1989)aGc>aAc	p.S663N	TCF20_uc003bck.1_Missense_Mutation_p.S663N	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTCCTTTGCTCCCTCCTCC	0.542000														147			34		0	0	1	0	0
KIAA0317	9870	broad.mit.edu	37	14	75140748	75140748	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:75140748G>T	uc001xqb.3	-	8	1652	c.1147C>A	c.(1147-1149)Cca>Aca	p.P383T	KIAA0317_uc010tut.1_Missense_Mutation_p.P222T	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	383					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		TTTGTTCCTGGACACACTCGG	0.443000														46			10		1.11149e-13	1.2982e-13	1	1	0
C11orf82	220042	broad.mit.edu	37	11	82639965	82639965	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:82639965C>T	uc001ozt.3	+	3	504	c.260C>T	c.(259-261)gCc>gTc	p.A87V	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Missense_Mutation_p.A87V	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	87					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GGTCTTACTGCCACTGGTTTG	0.313000														74			17		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68707511	68707511	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:68707511C>T	uc001stz.2	-	9	1658	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	MDM1_uc009zqv.1_Missense_Mutation_p.E228K|MDM1_uc010stc.1_Missense_Mutation_p.E473K	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	508						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CCTCCTTTTTCTGAGGATACA	0.403000														87			23		0	0	1	0	0
ZNF417	147687	broad.mit.edu	37	19	58420404	58420404	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58420404C>T	uc002qqq.3	-	2	1441	c.1242G>A	c.(1240-1242)ggG>ggA	p.G414G	ZNF417_uc010yhm.2_Silent_p.G371G|ZNF417_uc002qqr.3_Silent_p.G413G	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		TAAATGATTTCCCACATTCCT	0.443000														121			30		0	0	1	0	0
TBC1D8	11138	broad.mit.edu	37	2	101624596	101624596	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:101624596G>T	uc010fiv.3	-	19	3241	c.3110C>A	c.(3109-3111)tCt>tAt	p.S1037Y	RPL31_uc010yvu.1_Intron|RPL31_uc010yvv.1_Intron|RPL31_uc010fiu.1_Intron|TBC1D8_uc002tau.4_Missense_Mutation_p.S794Y	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	1037					blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCAGCTTCCAGAGCTGCTGCC	0.582000														70			26		9.57634e-11	1.08211e-10	1	1	0
ABCA4	24	broad.mit.edu	37	1	94514490	94514490	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94514490C>T	uc001dqh.3	-	17	2781	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	ABCA4_uc010otn.1_Missense_Mutation_p.A819T	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	893					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTTTCCAGGGCTCTTTCTTCT	0.532000														103			12		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50719911	50719911	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:50719911G>A	uc003bkv.4	-	21	3633	c.3540C>T	c.(3538-3540)cgC>cgT	p.R1180R	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Silent_p.R165R	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1180					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		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;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCACCCACTCGCGAGAGCCGA	0.687000														108			26		0	0	1	0	0
MEOX1	4222	broad.mit.edu	37	17	41720868	41720868	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:41720868G>T	uc002idz.3	-	1	659	c.630C>A	c.(628-630)ctC>ctA	p.L210L	MEOX1_uc002iea.3_Intron|MEOX1_uc002ieb.3_Silent_p.L95L	NM_004527	NP_001035091	P50221	MEOX1_HUMAN	Homo sapiens mesenchyme homeobox 1 (MEOX1), transcript variant 1, mRNA.	210						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GGCGCTCAGAGAGGTCCAGGT	0.607000														22			3		0.004672	0.00474578	1	1	0
ZNF320	162967	broad.mit.edu	37	19	53385152	53385152	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53385152C>T	uc002qag.3	-	3	418	c.227G>A	c.(226-228)aGa>aAa	p.R76K	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.R22K|ZNF320_uc002qai.3_Missense_Mutation_p.R76K	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ACTTGCTTGTCTCTGCAATGT	0.383000														190			51		0	0	1	0	0
F11R	50848	broad.mit.edu	37	1	160970463	160970463	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:160970463C>T	uc009wtt.3	-	3	616	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	F11R_uc010pjv.2_Intron|F11R_uc010pjw.2_Missense_Mutation_p.G120S|F11R_uc001fxf.4_Missense_Mutation_p.G116S	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	116	Ig-like V-type 1.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TAGCTGTTGCCGCCTTCCTCA	0.542000														167			27		0	0	1	0	0
CRTC3	64784	broad.mit.edu	37	15	91083357	91083357	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91083357G>A	uc002bpp.3	+	1	325	c.219G>A	c.(217-219)gcG>gcA	p.A73A	CRTC3_uc002bpn.3_Silent_p.A73A|CRTC3_uc002bpo.3_Silent_p.A73A	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	73	Required for interaction with HTLV-1 TAX.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			GGAGCAGTGCGTCAGAGTTTC	0.423000			T	MAML2	salivary gland mucoepidermoid									55			16		0	0	1	0	0
KBTBD10	10324	broad.mit.edu	37	2	170366805	170366805	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:170366805C>T	uc002ueu.1	+	0	594	c.517C>T	c.(517-519)Caa>Taa	p.Q173*	KBTBD10_uc010zdh.1_Intron	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	173					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						GGACTTTATGCAACTGTCTCC	0.428000														307			12		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66084525	66084525	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66084525C>T	uc021xzk.1	+	2	853	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MAST4_uc010iwz.3_Missense_Mutation_p.A182V|MAST4_uc003jur.4_Missense_Mutation_p.A182V	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	182						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AACCCGGTGGCGGGACAGGCC	0.627000														115			16		0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56388340	56388340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:56388340G>A	uc010bfn.3	-	8	1586	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.A343V	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	432					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGTTCCCCCCGCACTGCTGCT	0.512000														45			12		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62291340	62291340	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62291340G>T	uc001ntl.3	-	4	10849	c.10549C>A	c.(10549-10551)Ctc>Atc	p.L3517I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3517					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCACATTGAGATCTGGGCCC	0.478000														169			56		6.4308e-24	7.97596e-24	1	1	0
DNAJC22	79962	broad.mit.edu	37	12	49743036	49743036	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49743036G>T	uc001rua.3	+	1	782	c.381G>T	c.(379-381)caG>caT	p.Q127H	DNAJC22_uc001rub.3_Missense_Mutation_p.Q127H	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	127					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						TTGGCAACCAGACCTCAGACT	0.532000														309			54		4.88482e-21	5.98376e-21	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130405110	130405110	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130405110C>T	uc003enj.3	-	14	4001	c.3420G>A	c.(3418-3420)aaG>aaA	p.K1140K		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	1140					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGAGGCCCGACTTTAAATCAT	0.478000														98			24		0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53815541	53815541	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:53815541G>T	uc003jpj.4	+	0	1949	c.1759G>T	c.(1759-1761)Gtc>Ttc	p.V587F	SNX18_uc011cqg.2_Missense_Mutation_p.V587F|SNX18_uc003jpi.4_Intron	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	587	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				GGACGCCTGGGTCTTTTCCCT	0.493000														102			27		2.24059e-21	2.74853e-21	1	1	0
TNRC6C	57690	broad.mit.edu	37	17	76083142	76083142	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:76083142C>A	uc002jud.2	+	13	4370	c.3770C>A	c.(3769-3771)tCt>tAt	p.S1257Y	TNRC6C_uc002juf.2_Missense_Mutation_p.S1254Y	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1257					gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GAGCAGCAGTCTTCACCCAAC	0.582000														236			25		3.96558e-24	4.92234e-24	1	1	0
MESDC1	59274	broad.mit.edu	37	15	81294944	81294944	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81294944G>A	uc002bfz.3	+	0	1650	c.332G>A	c.(331-333)aGc>aAc	p.S111N		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	111										endometrium(1)|lung(2)	3						GCGGGGGACAGCCTGGTGGAG	0.721000														62			7		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45455749	45455749	+	Missense_Mutation	SNP	C	T	T	rs140681354	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45455749C>T	uc001zus.1	+	32	4614	c.4268C>T	c.(4267-4269)aCg>aTg	p.T1423M	DUOX1_uc001zut.1_Missense_Mutation_p.T1423M|DUOX1_uc010bee.1_Missense_Mutation_p.T803M	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1423					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTGGGTGACGCGGACCCAG	0.562000											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		111			19		0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	93011174	93011174	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:93011174C>T	uc001khi.3	+	5	859	c.451C>T	c.(451-453)Caa>Taa	p.Q151*	PCGF5_uc001khh.3_Nonsense_Mutation_p.Q151*|PCGF5_uc010qnk.2_Nonsense_Mutation_p.Q151*	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|centrosome	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAATAATGGGCAATCAGGGGA	0.323000														75			21		0	0	1	0	0
TMEM179B	374395	broad.mit.edu	37	11	62557503	62557503	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62557503G>A	uc001nvd.4	+	4	674	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_199337	NP_955369	Q7Z7N9	T179B_HUMAN	Homo sapiens transmembrane protein 179B (TMEM179B), mRNA.	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582000														97			25		0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21830444	21830444	+	Nonsense_Mutation	SNP	G	A	A	rs143235888	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:21830444G>A	uc001wao.2	-	14	2044	c.1705C>T	c.(1705-1707)Cga>Tga	p.R569*		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	569					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	p.R569Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AAGTTGATTCGCAAGTAAGTA	0.398000														62			16		0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116101424	116101424	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:116101424G>A	uc002tle.3	+	2	240	c.219G>A	c.(217-219)ttG>ttA	p.L73L	DPP10_uc002tla.2_Silent_p.L69L|DPP10_uc021vnb.1_Non-coding_Transcript|DPP10_uc002tlb.2_Silent_p.L19L|DPP10_uc002tlc.2_Silent_p.L65L|DPP10_uc002tlf.2_Silent_p.L62L	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	69					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	p.V73L(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAACCAGATTGTCTTTGGAAG	0.343000														92			12		0	0	1	0	0
DCHS1	8642	broad.mit.edu	37	11	6651110	6651110	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6651110C>T	uc001mem.1	-	10	5229	c.4828G>A	c.(4828-4830)Gaa>Aaa	p.E1610K		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1610	Cadherin 15.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCGTTGTTCGCGGTCCAAC	0.657000														163			38		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96846893	96846893	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96846893C>T	uc010mrj.2	+	0	183	c.81C>T	c.(79-81)acC>acT	p.T27T	PTPDC1_uc004auf.2_Intron|PTPDC1_uc004aug.2_Intron|PTPDC1_uc004auh.2_Silent_p.T27T|PTPDC1_uc010mri.2_Silent_p.T27T	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	0				K -> T (in Ref. 1; AAO13168).			protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGCACTCCACCTCAGACCCAG	0.682000														156			45		0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234436099	234436099	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:234436099A>C	uc010zmr.2	-	11	1712	c.1712T>G	c.(1711-1713)tTt>tGt	p.F571C	USP40_uc010zmt.1_Missense_Mutation_p.F215C	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	559					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TCTTTTATCAAAGGTCAAATC	0.433000														43			16		0	0	1	0	0
UXS1	80146	broad.mit.edu	37	2	106739525	106739525	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106739525A>G	uc002tdm.3	-	8	743	c.645T>C	c.(643-645)agT>agC	p.S215S	UXS1_uc002tdl.3_Silent_p.S47S|UXS1_uc002tdn.3_Silent_p.S220S|UXS1_uc002tdo.3_Silent_p.S158S|UXS1_uc010ywh.2_Silent_p.S59S	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	215					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding	p.E215A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTAATCCTCACTTTGAGGGT	0.453000														133			24		0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216295	20216295	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:20216295G>A	uc010tkt.2	+	0	709	c.709G>A	c.(709-711)Gtc>Atc	p.V237I		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAGAACAAGGTCTTCTCTAC	0.483000														192			32		0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135430783	135430783	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430783A>C	uc004ezu.1	+	5	5209	c.4918A>C	c.(4918-4920)Atc>Ctc	p.I1640L	GPR112_uc010nsb.1_Missense_Mutation_p.I1435L|GPR112_uc010nsc.1_Missense_Mutation_p.I1407L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1640					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)					ACCTTCCAGGATCACACCTAC	0.448000														283			12		0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395385	43395385	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:43395385C>T	uc001cik.2	-	5	1271	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	249					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CATCATCTGCCGACTCTCTTC	0.627000														318			28		0	0	1	0	0
TMEM246	84302	broad.mit.edu	37	9	104238223	104238223	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:104238223G>A	uc004bbm.3	-	1	1474	c.1152C>T	c.(1150-1152)ctC>ctT	p.L384L	AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.L384L	NM_032342	NP_115718	Q9BRR3	CI125_HUMAN	Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA.	384						integral to membrane											TGTGTTTCACGAGGTTCGGCT	0.542000														135			25		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113312321	113312321	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:113312321A>G	uc010mtz.3	-	1	932	c.595T>C	c.(595-597)Tcc>Ccc	p.S199P	SVEP1_uc010mua.1_Missense_Mutation_p.S199P|SVEP1_uc004beu.2_Missense_Mutation_p.S199P|SVEP1_uc004bev.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	199	VWFA.				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						CCCCCATTGGAATATCCATCA	0.418000														161			28		0	0	1	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073413	17073413	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:17073413C>A	uc002zlp.1	-	0	288	c.28G>T	c.(28-30)Gag>Tag	p.E10*		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	10					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGGGGCAGCTCCAGGGCTGAA	0.642000														122			28		1.77063e-15	2.09702e-15	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	99548174	99548174	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:99548174C>A	uc001tge.2	-	15	2837	c.2420_splice	c.e15-1	p.R807_splice	ANKS1B_uc001tgf.2_Splice_Site_p.G383_splice|ANKS1B_uc001tgk.3_Splice_Site_p.R104_splice|ANKS1B_uc001tgd.2_Nonsense_Mutation_p.G33*|ANKS1B_uc009ztr.3_Nonsense_Mutation_p.G33*|ANKS1B_uc001tgj.3_Nonsense_Mutation_p.G33*|ANKS1B_uc001tgi.3_Nonsense_Mutation_p.G33*|ANKS1B_uc009zts.2_Nonsense_Mutation_p.G33*|ANKS1B_uc001tgg.4_Splice_Site|ANKS1B_uc010svg.2_Splice_Site_p.G2_splice	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	807						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CATCTGGGTCCTGTAAGAGGA	0.532000														74			27		1.33986e-20	1.63769e-20	1	1	0
NKX2-2	4821	broad.mit.edu	37	20	21494152	21494152	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:21494152G>A	uc002wsi.3	-	0	513	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	52					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGCGTCCAGGGCGCCCTGCC	0.687000														99			25		0	0	1	0	0
SMARCC2	6601	broad.mit.edu	37	12	56565170	56565170	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56565170C>A	uc001skb.3	-	20	2245	c.2139G>T	c.(2137-2139)gaG>gaT	p.E713D	SMARCC2_uc001skd.3_Missense_Mutation_p.E744D|SMARCC2_uc001ska.3_Missense_Mutation_p.E744D|SMARCC2_uc001skc.3_Missense_Mutation_p.E743D|SMARCC2_uc010sqf.2_Missense_Mutation_p.E633D	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	713					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GAACATGGGCCTCCACCAAGG	0.552000														131			27		7.38237e-10	8.2451e-10	1	1	0
MSRB2	22921	broad.mit.edu	37	10	23409785	23409785	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:23409785A>C	uc001iro.3	+	4	654	c.543A>C	c.(541-543)aaA>aaC	p.K181N		NM_012228	NP_036360	Q9Y3D2	MSRB2_HUMAN	Homo sapiens methionine sulfoxide reductase B2 (MSRB2), mRNA.	181					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	AACCAAGGAAACACTGACCAT	0.458000														54			13		0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639369	156639369	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639369G>T	uc001fpq.3	-	3	4744	c.4611C>A	c.(4609-4611)ggC>ggA	p.G1537G	NES_uc021pbh.1_Silent_p.G455G	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1537	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGGACCCTGGCCATTAACAC	0.577000														211			17		5.3912e-06	5.69533e-06	1	1	0
PCDHB15	56121	broad.mit.edu	37	5	140627157	140627157	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140627157C>A	uc003lje.3	+	0	2011	c.2011C>A	c.(2011-2013)Ctg>Atg	p.L671M		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	671	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGCCCTACCTGCCGCTCCC	0.667000														398			37		4.62619e-21	5.66726e-21	1	1	0
KRT5	3852	broad.mit.edu	37	12	52913904	52913904	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:52913904G>A	uc001san.3	-	0	340	c.177C>T	c.(175-177)ggC>ggT	p.G59G	KRT5_uc009zmh.3_Silent_p.G59G	NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	59	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGCTGCCATAGCCACCCACTC	0.647000														164			82		0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	108998883	108998883	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108998883A>G	uc002tea.1	+	2	711	c.338A>G	c.(337-339)aAa>aGa	p.K113R	SULT1C4_uc010ywr.1_Intron|SULT1C4_uc002teb.1_Intron	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	113					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGATCCTGAAAACACATCTT	0.388000														319			63		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50854680	50854680	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50854680G>T	uc001jhz.2	+	7	1394	c.1241G>T	c.(1240-1242)aGc>aTc	p.S414I	CHAT_uc001jhv.1_Missense_Mutation_p.S296I|CHAT_uc001jhx.1_Missense_Mutation_p.S296I|CHAT_uc001jhy.1_Missense_Mutation_p.S296I|CHAT_uc001jia.2_Missense_Mutation_p.S332I|CHAT_uc010qgs.1_Missense_Mutation_p.S296I	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	414					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.Y413F(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGAGGCTACAGCAAGAACGGG	0.632000														130			26		1.42536e-11	1.62618e-11	1	1	0
C2orf16	84226	broad.mit.edu	37	2	27804403	27804403	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:27804403G>A	uc002rkz.4	+	0	5015	c.4964G>A	c.(4963-4965)cGc>cAc	p.R1655H	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1655	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGAAGCCATCGCAGTCCCTCA	0.572000														400			150		0	0	1	0	0
KIAA1598	57698	broad.mit.edu	37	10	118738812	118738812	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118738812G>A	uc021pzk.1	-	1	564	c.66C>T	c.(64-66)ggC>ggT	p.G22G	KIAA1598_uc009xyw.3_Silent_p.G22G|KIAA1598_uc001lcz.4_Silent_p.G22G|KIAA1598_uc010qso.2_Intron|KIAA1598_uc010qsp.1_Silent_p.G22G|KIAA1598_uc010qsq.1_5'UTR	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	22					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CTTCATATTCGCCTATTGCTA	0.408000														79			17		0	0	1	0	0
SLC11A2	4891	broad.mit.edu	37	12	51390675	51390675	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51390675C>T	uc001rxk.2	-	8	893	c.843G>A	c.(841-843)caG>caA	p.Q281Q	SLC11A2_uc001rxd.4_Silent_p.Q101Q|SLC11A2_uc001rxf.3_Non-coding_Transcript|SLC11A2_uc001rxe.4_Silent_p.Q252Q|SLC11A2_uc001rxc.4_Silent_p.Q252Q|SLC11A2_uc001rxg.2_5'Flank|SLC11A2_uc010smx.2_Silent_p.Q248Q|SLC11A2_uc001rxh.2_Silent_p.Q252Q|SLC11A2_uc010smy.2_Silent_p.Q215Q|SLC11A2_uc001rxj.2_Silent_p.Q252Q|SLC11A2_uc001rxi.3_Silent_p.Q252Q	NM_001174125	NP_001167596	P49281	NRAM2_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2 (SLC11A2), transcript variant 1, mRNA.	252					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CCTGTTCAATCTGTGGAGTGC	0.498000														112			25		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152527556	152527556	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152527556T>C	uc021vrb.1	-	35	4516	c.4487A>G	c.(4486-4488)aAc>aGc	p.N1496S	NEB_uc002txu.3_Missense_Mutation_p.N1496S|NEB_uc021vrc.1_Missense_Mutation_p.N1496S|NEB_uc010fnx.3_Missense_Mutation_p.N1496S|NEB_uc021vrd.1_Missense_Mutation_p.N1496S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1496					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGCTTTGTGTTATGCTGAGC	0.468000														76			21		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114264287	114264287	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:114264287C>T	uc003ibe.4	+	33	4337	c.4237C>T	c.(4237-4239)Cta>Tta	p.L1413L	ANK2_uc003ibd.4_Silent_p.L1404L|ANK2_uc003ibf.4_Silent_p.L1413L|ANK2_uc011cgc.2_Silent_p.L589L|ANK2_uc003ibg.4_Silent_p.L408L|ANK2_uc003ibh.4_Silent_p.L87L|ANK2_uc011cgb.1_Silent_p.L1428L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1380					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGACTTCCTCTATTTGTCAA	0.328000														54			12		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19525329	19525329	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19525329C>T	uc001bbi.3	-	3	476	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	158					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGCAGCTTGGCGGATTTCATC	0.468000														150			19		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169588378	169588378	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169588378G>A	uc001ggi.4	-	1	148	c.83C>T	c.(82-84)gCc>gTc	p.A28V	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.A28V	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	28					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	AGAGATCAGGGCACTGAAGCA	0.418000														66			14		0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21087302	21087302	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21087302G>T	uc002zsz.4	-	35	4332	c.4071C>A	c.(4069-4071)ttC>ttA	p.F1357L	PI4KA_uc002zsy.4_Missense_Mutation_p.F167L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1357					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.F1357L(1)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTTATCTGAGAACATGGCGG	0.527000														117			23		6.32553e-13	7.33687e-13	1	1	0
PIK3R4	30849	broad.mit.edu	37	3	130435274	130435274	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:130435274G>A	uc003enj.3	-	8	2878	c.2297C>T	c.(2296-2298)gCc>gTc	p.A766V		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	766					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CTGTGCTATGGCAGGATCCTC	0.418000														132			25		0	0	1	0	0
TAAR5	9038	broad.mit.edu	37	6	132909876	132909876	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132909876T>G	uc003qdk.2	-	0	1002	c.950A>C	c.(949-951)aAa>aCa	p.K317T		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	317					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CAGTGTGAGTTTCAGTGCCTT	0.468000														103			24		0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508946	106508946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:106508946G>A	uc003vdv.4	+	1	1025	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	PIK3CG_uc003vdu.3_Missense_Mutation_p.A314T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A314T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	314					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCCAGACCCGGCCCTAGACGA	0.592000														143			7		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:237754106C>A	uc001hyl.1	+	30	4094	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1325	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522000														200			70		3.13765e-25	3.90939e-25	1	1	0
ZNF557	79230	broad.mit.edu	37	19	7081411	7081411	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7081411G>A	uc002mga.3	+	5	773	c.288G>A	c.(286-288)gaG>gaA	p.E96E	ZNF557_uc002mgb.3_Silent_p.E89E|ZNF557_uc002mgc.3_Silent_p.E96E	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		CCCAGCTGGAGCAAGAAGATA	0.493000														41			9		0	0	1	0	0
PLSCR4	57088	broad.mit.edu	37	3	145912991	145912991	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:145912991C>T	uc010huy.3	-	7	1194	c.865G>A	c.(865-867)Gct>Act	p.A289T	PLSCR4_uc010huz.3_Missense_Mutation_p.A289T|PLSCR4_uc003evt.4_Missense_Mutation_p.A289T|PLSCR4_uc010hva.3_Missense_Mutation_p.A199T|PLSCR4_uc003evu.4_Missense_Mutation_p.A184T	NM_020353	NP_065086	Q9NRQ2	PLS4_HUMAN	Homo sapiens phospholipid scramblase 4 (PLSCR4), transcript variant 2, mRNA.	289					blood coagulation|phospholipid scrambling	integral to membrane	SH3 domain binding|calcium ion binding|phospholipid scramblase activity			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						AAATGGTCAGCATCTGCCATT	0.428000														100			26		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78943289	78943289	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78943289A>G	uc001jxn.3	-	5	874	c.697_splice	c.e5-1	p.F233_splice	KCNMA1_uc021ptu.1_Splice_Site_p.F179_splice|KCNMA1_uc001jxj.2_Splice_Site_p.F233_splice|KCNMA1_uc001jxk.1_Splice_Site|KCNMA1_uc009xrt.1_Splice_Site_p.F53_splice|KCNMA1_uc001jxo.3_Splice_Site_p.F233_splice|KCNMA1_uc001jxm.3_Splice_Site_p.F233_splice|KCNMA1_uc001jxq.3_Splice_Site_p.F233_splice	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	233					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GGCTGCAATAAACTGGGGGAA	0.418000														30			12		0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120446754	120446754	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:120446754G>A	uc003idh.3	-	11	1884	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	PDE5A_uc003idf.3_Missense_Mutation_p.R535W|PDE5A_uc003idg.3_Missense_Mutation_p.R525W|AF085995_uc003idi.4_Intron	NM_001083	NP_246273	O76074	PDE5A_HUMAN	Homo sapiens phosphodiesterase 5A, cGMP-specific (PDE5A), transcript variant 1, mRNA.	577					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	p.R577W(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTAAACATCCGAATTGTACAC	0.448000														104			16		0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118455300	118455300	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:118455300G>A	uc001ehf.3	-	3	621	c.322C>T	c.(322-324)Cga>Tga	p.R108*	GDAP2_uc001ehg.3_Nonsense_Mutation_p.R108*	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	108	Macro.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		TCACCTGTTCGGCACCCTGAA	0.398000														92			18		0	0	1	0	0
CPSF2	53981	broad.mit.edu	37	14	92608558	92608558	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:92608558G>A	uc001yah.2	+	7	980	c.712G>A	c.(712-714)Gac>Aac	p.D238N		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	238					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATAGCAGTGGACACAGCAGG	0.398000														187			34		0	0	1	0	0
MATN2	4147	broad.mit.edu	37	8	99030295	99030295	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:99030295C>T	uc003yic.3	+	11	2001	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C	MATN2_uc010mbh.1_Silent_p.C549C|MATN2_uc003yid.3_Silent_p.C590C|MATN2_uc003yie.1_Silent_p.C590C|MATN2_uc010mbi.1_Silent_p.C423C	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	590	EGF-like 9.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CATACACGTGCGAGTGCTTGG	0.507000														283			56		0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91450049	91450049	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:91450049T>G	uc001tbl.3	-	1	629	c.10A>C	c.(10-12)Aca>Cca	p.T4P		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	4					response to stimulus|visual perception	proteinaceous extracellular matrix		p.G3G(1)		breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AAACAGATTGTGCCTGCCATT	0.358000														59			17		0	0	1	0	0
CKM	1158	broad.mit.edu	37	19	45810739	45810739	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45810739C>T	uc002pbd.3	-	6	1120	c.947G>A	c.(946-948)cGt>cAt	p.R316H		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	316	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	CTTCTGCAGACGCAGGCGGGT	0.637000														59			6		0	0	1	0	0
CHSY3	337876	broad.mit.edu	37	5	129521060	129521060	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129521060A>G	uc003kvd.3	+	2	2225	c.2225A>G	c.(2224-2226)tAc>tGc	p.Y742C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	742						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAACAGGTGTACTATCCCATC	0.398000														120			38		0	0	1	0	0
EGFL7	51162	broad.mit.edu	37	9	139563096	139563096	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139563096C>T	uc004cid.3	+	3	1079	c.168C>T	c.(166-168)tgC>tgT	p.C56C	EGFL7_uc010nbp.3_Silent_p.C56C|EGFL7_uc004cie.3_Silent_p.C56C|EGFL7_uc004cif.3_Silent_p.C56C|EGFL7_uc004cih.3_Silent_p.C56C|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	56	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TCACCACCTGCGACGGGCACC	0.682000														280			61		0	0	1	0	0
STAR	6770	broad.mit.edu	37	8	38002748	38002748	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38002748C>T	uc003xkv.1	-	5	1000	c.736G>A	c.(736-738)Gac>Aac	p.D246N		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	246	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ACCTTGAGGTCGATGCTGAGT	0.557000														107			17		0	0	1	0	0
CXorf36	79742	broad.mit.edu	37	X	45059910	45059910	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:45059910G>A	uc004dgg.2	-	0	237	c.162C>T	c.(160-162)ttC>ttT	p.F54F	CXorf36_uc004dgi.3_Silent_p.F54F	NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	54						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						CAAGACCGAGGAAAGTCCTTC	0.428000														77			20		0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100789061	100789061	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:100789061C>A	uc003yiv.3	+	40	7492	c.7381C>A	c.(7381-7383)Ctg>Atg	p.L2461M	VPS13B_uc003yiw.3_Missense_Mutation_p.L2436M	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2461					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)			TCCAACAGCCCTGGCTGCCTG	0.453000														195			21		2.70639e-06	2.8733e-06	1	1	0
CAMSAP1	157922	broad.mit.edu	37	9	138712706	138712706	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138712706C>T	uc004cgr.4	-	10	3801	c.3801G>A	c.(3799-3801)ccG>ccA	p.P1267P	CAMSAP1_uc004cgq.4_Silent_p.P1157P|CAMSAP1_uc010nbg.3_Silent_p.P989P	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1267						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AGCCGACCCCCGGCTTCTGGT	0.572000														157			8		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40018892	40018892	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:40018892C>A	uc001zki.3	-	8	1166	c.948G>T	c.(946-948)caG>caT	p.Q316H		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	316										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GCTGCTGATGCTGGGTGACTG	0.443000														53			16		2.32078e-09	2.57599e-09	1	1	0
KIAA1407	57577	broad.mit.edu	37	3	113720481	113720481	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113720481C>A	uc003eax.3	-	12	2271	c.2124G>T	c.(2122-2124)caG>caT	p.Q708H	KIAA1407_uc011bin.1_Non-coding_Transcript	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	708								p.Q708*(1)		endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TTCTTTCAAGCTGTGCCTCCT	0.443000														203			15		4.14922e-12	4.76557e-12	1	1	0
ANKIB1	54467	broad.mit.edu	37	7	92027712	92027712	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92027712C>T	uc003ulw.2	+	19	3095	c.2719C>T	c.(2719-2721)Cgg>Tgg	p.R907W	ANKIB1_uc010lew.1_Missense_Mutation_p.R176W	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	907							protein binding|zinc ion binding	p.R907W(2)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGATAGCCCTCGGGCTGCATT	0.493000														49			8		0	0	1	0	0
GLTSCR2	29997	broad.mit.edu	37	19	48255775	48255775	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48255775G>A	uc002phm.2	+	5	700	c.676G>A	c.(676-678)Gca>Aca	p.A226T	GLTSCR2_uc010elk.1_Non-coding_Transcript	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	226						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		ACAGCGGCCAGCACGCCTGCA	0.662000														152			30		0	0	1	0	0
KIAA1967	57805	broad.mit.edu	37	8	22475262	22475262	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:22475262G>T	uc003xch.3	+	15	2293	c.2044G>T	c.(2044-2046)Gag>Tag	p.E682*	KIAA1967_uc003xci.3_Nonsense_Mutation_p.E682*|KIAA1967_uc003xcj.1_Nonsense_Mutation_p.E351*	NM_021174	NP_066997	Q8N163	K1967_HUMAN	Homo sapiens KIAA1967 (KIAA1967), transcript variant 1, mRNA.	682					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(5)	25		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		AAACCAGTCAGAGATGGAGTT	0.572000														205			27		6.32553e-13	7.33687e-13	1	1	0
C2CD3	26005	broad.mit.edu	37	11	73814404	73814404	+	Silent	SNP	C	T	T	rs147082398		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:73814404C>T	uc001ouu.2	-	13	2579	c.2352G>A	c.(2350-2352)acG>acA	p.T784T		NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	784						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GGGAGGCTGGCGTAGCTACGA	0.458000														151			34		0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767892	181767892	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181767892C>T	uc009wxt.3	+	47	7059	c.6864C>T	c.(6862-6864)cgC>cgT	p.R2288R	CACNA1E_uc001gow.3_Silent_p.R2245R|CACNA1E_uc009wxs.3_Silent_p.R2226R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2288	Poly-Arg.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGGAGGCGCGGGGGGCCTG	0.647000														48			18		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40044117	40044117	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:40044117A>C	uc001rmc.3	+	6	814	c.647A>C	c.(646-648)aAa>aCa	p.K216T	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	216										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						CCATCACATAAAACTACACGA	0.318000														26			8		0	0	1	0	0
TMCO1	54499	broad.mit.edu	37	1	165712439	165712439	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:165712439A>C	uc001gdj.4	-	5	580	c.433T>G	c.(433-435)Ttc>Gtc	p.F145V	TMCO1_uc001gdk.4_Missense_Mutation_p.F133V|TMCO1_uc001gdn.4_Non-coding_Transcript	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 1, mRNA.	145						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					ATATACAGGAAAATGAAGGAA	0.398000														75			19		0	0	1	0	0
SRPK1	6732	broad.mit.edu	37	6	35842022	35842022	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35842022T>G	uc003olj.3	-	6	697	c.573A>C	c.(571-573)aaA>aaC	p.K191N	SRPK1_uc003olh.3_Missense_Mutation_p.K84N|SRPK1_uc003oli.3_Missense_Mutation_p.K84N|SRPK1_uc011dtg.2_Missense_Mutation_p.K175N	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	191	Protein kinase.				RNA splicing|cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						GCTGAATAATTTTTTTGACAC	0.353000														18			7		0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23391064	23391064	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23391064C>T	uc003swg.3	-	5	809	c.543G>A	c.(541-543)agG>agA	p.R181R		NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	181					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.R181M(1)|p.R181K(1)|p.S180L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAGACCCCTGCCTTGAGGAGC	0.572000														119			27		0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668386	59668386	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:59668386C>T	uc002izj.2	-	0	178	c.156G>A	c.(154-156)tgG>tgA	p.W52*		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	52					protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTGCCACCAGCCAGGCTTTTT	0.512000														190			45		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975642	20975642	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20975642C>A	uc010vbe.2	-	52	9564	c.9564G>T	c.(9562-9564)aaG>aaT	p.K3188N	DNAH3_uc010vbd.2_Missense_Mutation_p.K623N	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3188	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGAGACAGACCTTCACGGCAA	0.473000														142			46		3.54909e-21	4.35023e-21	1	1	0
TARDBP	23435	broad.mit.edu	37	1	11082189	11082189	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:11082189G>A	uc001art.3	+	5	857	c.723G>A	c.(721-723)caG>caA	p.Q241Q	TARDBP_uc010oap.2_Silent_p.Q125Q	NM_007375	NP_031401	Q13148	TADBP_HUMAN	Homo sapiens TAR DNA binding protein (TARDBP), mRNA.	241	RRM 2.				3'-UTR-mediated mRNA stabilization|RNA splicing|cell death|mRNA processing|negative regulation by host of viral transcription|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	p.A240V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		AGATTGCGCAGTCTCTTTGTG	0.333000														86			8		0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121509	86121509	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86121509A>G	uc003ycz.4	+	5	785	c.748A>G	c.(748-750)Aca>Gca	p.T250A	E2F5_uc003yda.4_Missense_Mutation_p.T250A|E2F5_uc010mab.3_Missense_Mutation_p.T89A	NM_001951	NP_001077058	Q15329	E2F5_HUMAN	Homo sapiens E2F transcription factor 5, p130-binding (E2F5), transcript variant 1, mRNA.	250					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TGATGACCTCACACAGCCTTC	0.483000														82			13		0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43344702	43344702	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:43344702G>T	uc003cms.4	+	2	339	c.7G>T	c.(7-9)Gga>Tga	p.G3*	SNRK_uc003cmt.4_Nonsense_Mutation_p.G3*|SNRK_uc010hik.3_Nonsense_Mutation_p.G3*|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Nonsense_Mutation_p.G3*	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	3					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CAGCATGGCAGGATTTAAGCG	0.363000														92			14		2.31682e-05	2.42268e-05	1	1	0
PARK2	5071	broad.mit.edu	37	6	162622162	162622162	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:162622162C>T	uc021zhu.1	-	5	766	c.675_splice	c.e5+1	p.Q225_splice	PARK2_uc003qtv.4_Splice_Site|PARK2_uc003qtw.4_Intron|PARK2_uc010kkd.3_Splice_Site|PARK2_uc003qtx.4_Splice_Site_p.Q178_splice|PARK2_uc021zhs.1_Splice_Site_p.Q178_splice|PARK2_uc021zht.1_Splice_Site|PARK2_uc003qty.4_Splice_Site_p.Q178_splice|PARK2_uc003qtz.4_Intron|PARK2_uc021zhv.1_Splice_Site_p.Q99_splice|PARK2_uc021zhw.1_Intron|PARK2_uc021zhx.1_Intron|PARK2_uc021zhy.1_Splice_Site_p.Q178_splice|PARK2_uc010kke.1_Splice_Site_p.Q178_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	178	SYT11 binding 1.				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm	PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTTCCTTACCTGGGTCAAG	0.468000														102			29		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61846505	61846505	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:61846505T>C	uc001jky.3	-	29	4016	c.3678A>G	c.(3676-3678)tcA>tcG	p.S1226S	ANK3_uc001jkw.3_Silent_p.S360S|ANK3_uc009xpa.3_Silent_p.S360S|ANK3_uc001jkx.3_Silent_p.S404S|ANK3_uc010qih.2_Silent_p.S1227S|ANK3_uc001jkz.4_Silent_p.S1220S|ANK3_uc001jla.1_Silent_p.S292S|ANK3_uc001jlb.1_Silent_p.S744S	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1226					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CACCTTCTCCTGAGGGCGGGG	0.458000														109			23		0	0	1	0	0
SUGP2	10147	broad.mit.edu	37	19	19136736	19136736	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136736G>A	uc002nkz.1	-	2	483	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	SUGP2_uc002nkx.2_Missense_Mutation_p.R141C|SUGP2_uc002nla.1_Missense_Mutation_p.R141C|SUGP2_uc002nlb.2_Missense_Mutation_p.R141C|SUGP2_uc010xqk.1_Silent_p.S42S	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	141					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAAGAACCACGGAGCGCAAAT	0.512000														178			30		0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073477	134073477	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073477A>G	uc003iha.3	+	0	3008	c.2182A>G	c.(2182-2184)Atc>Gtc	p.I728V	PCDH10_uc003igz.3_Missense_Mutation_p.I728V	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	728					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTGTCCTTCATCTTCCTGCT	0.592000														191			46		0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374605	113374605	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:113374605G>A	uc003eam.3	-	6	6335	c.5924C>T	c.(5923-5925)cCc>cTc	p.P1975L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1919L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1975					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGATCTCTGGGGAACTGAAGA	0.493000														52			5		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503218	110503218	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:110503218A>G	uc003yne.3	+	60	10106	c.10002A>G	c.(10000-10002)tcA>tcG	p.S3334S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3334					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACATGGCTCATCTTATATTC	0.318000										HNSCC(38;0.096)				44			14		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73072071	73072071	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:73072071G>A	uc004ebm.1	-	0		c.518C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GCAGGTATCCGATACCCCGAT	0.483000														29			8		0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153433216	153433216	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:153433216A>G	uc010jib.2	+	2	1251	c.1032A>G	c.(1030-1032)ggA>ggG	p.G344G	MFAP3_uc011ddb.1_Silent_p.G198G|MFAP3_uc003lvf.2_Silent_p.G344G|MFAP3_uc021ygf.1_Silent_p.G198G	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	344						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGATATAGGATCTGCAGAAT	0.418000														127			32		0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107170109	107170109	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:107170109G>T	uc010ilv.2	-	7	1054	c.689C>A	c.(688-690)gCt>gAt	p.A230D	TBCK_uc003hyb.2_5'Flank|TBCK_uc003hye.2_Missense_Mutation_p.A191D|TBCK_uc003hyc.2_Missense_Mutation_p.A167D|TBCK_uc003hyd.2_Missense_Mutation_p.A58D|TBCK_uc003hyf.2_Missense_Mutation_p.A230D	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	230	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATGCTCTTCAGCCAGAACTAT	0.313000														48			13		1.61879e-10	1.82465e-10	1	1	0
CD163L1	283316	broad.mit.edu	37	12	7531634	7531634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7531634G>A	uc010sge.2	-	8	2367	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	CD163L1_uc001qsy.3_Nonsense_Mutation_p.R771*	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	771	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R771*(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CACTCCCATCGTATACAATCC	0.408000														117			31		0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48955427	48955427	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:48955427C>A	uc001vcb.3	+	16	1709	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	515	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.P515L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTCTTTCCCATGGATTCT	0.303000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				34			5		0.00116845	0.00119477	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140203604	140203604	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140203604G>A	uc003lhl.2	+	0	2244	c.2244G>A	c.(2242-2244)tcG>tcA	p.S748S	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_uc003lhk.1_Silent_p.S748S|PCDHAC2_uc003lhj.1_Silent_p.S748S	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	786					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S748S(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)			GGAGCTGGTCGTACTCGCAGC	0.647000														131			32		0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103338488	103338488	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:103338488C>T	uc001vpj.3	-	3	694	c.688G>A	c.(688-690)Gac>Aac	p.D230N		NM_001010977	NP_001010977	Q5VZV1	MT21C_HUMAN	Homo sapiens methyltransferase like 21C (METTL21C), mRNA.	230							methyltransferase activity	p.D230N(2)		breast(1)|large_intestine(3)|lung(2)|skin(1)	7						AATTCATAGTCGGTGCTGAAC	0.433000														67			12		0	0	1	0	0
PPM1K	152926	broad.mit.edu	37	4	89199713	89199713	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:89199713G>T	uc003hrm.4	-	1	413	c.23C>A	c.(22-24)aCt>aAt	p.T8N	PPM1K_uc010ikp.1_Missense_Mutation_p.T8N|PPM1K_uc003hrn.3_Missense_Mutation_p.T8N	NM_152542	NP_689755	Q8N3J5	PPM1K_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1K (PPM1K), nuclear gene encoding mitochondrial protein, mRNA.	8					protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		TCTGACCAAAGTAATTAAGGC	0.507000														73			16		2.32078e-09	2.57599e-09	1	1	0
MAPKBP1	23005	broad.mit.edu	37	15	42107871	42107871	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:42107871A>G	uc001zok.4	+	12	1671	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	MAPKBP1_uc010bci.3_Missense_Mutation_p.D456G|MAPKBP1_uc010udb.2_Missense_Mutation_p.D295G|MAPKBP1_uc001zoj.4_Missense_Mutation_p.D456G|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	462										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCCCTGCTGGACACAGAGCTG	0.557000														42			5		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44216429	44216429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:44216429G>A	uc001ztl.3	-	1	358	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	FRMD5_uc001ztk.1_5'UTR|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	61	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TCTACAAAGCGGATACCAAAA	0.428000														167			36		0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740403	76740403	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:76740403A>C	uc001syd.1	-	1	1446	c.1362T>G	c.(1360-1362)agT>agG	p.S454R		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	454					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						GTGCTTGATAACTTTCTCCAC	0.348000									Bardet-Biedl syndrome					96			18		0	0	1	0	0
PRKDC	5591	broad.mit.edu	37	8	48743248	48743248	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:48743248T>C	uc003xqi.3	-	61	8369	c.8312A>G	c.(8311-8313)tAc>tGc	p.Y2771C	PRKDC_uc003xqj.3_Missense_Mutation_p.Y2771C	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2772	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTAGCTTCTGTACAGAACGAC	0.498000								Non-homologous end-joining						119			19		0	0	1	0	0
MSMO1	6307	broad.mit.edu	37	4	166254711	166254711	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:166254711C>A	uc003ire.3	+	1	319	c.189C>A	c.(187-189)ttC>ttA	p.F63L	MSMO1_uc010irb.3_Missense_Mutation_p.F63L|MSMO1_uc003irf.3_Intron	NM_006745	NP_006736	Q15800	ERG25_HUMAN	Homo sapiens methylsterol monooxygenase 1 (MSMO1), transcript variant 1, mRNA.	63					cholesterol biosynthetic process|fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	C-4 methylsterol oxidase activity|iron ion binding	p.F63L(1)								NADH(DB00157)	CCCTTTATTTCTTATTCTGTT	0.279000														57			14		9.31168e-06	9.81217e-06	1	1	0
MAVS	57506	broad.mit.edu	37	20	3841982	3841982	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:3841982C>T	uc002wjw.4	+	3	468	c.296C>T	c.(295-297)aCc>aTc	p.T99I	MAVS_uc002wjx.4_5'UTR|MAVS_uc002wjy.4_Intron	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	99					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTCTAGGGACCTCGGACCGT	0.607000														182			33		0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133980078	133980078	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:133980078T>C	uc003ytw.3	+	30	5767	c.5726T>C	c.(5725-5727)aTa>aCa	p.I1909T	TG_uc010mdw.3_Missense_Mutation_p.I668T|TG_uc011ljb.2_Missense_Mutation_p.I278T|TG_uc011ljc.2_Missense_Mutation_p.I63T|TG_uc010mdx.1_Non-coding_Transcript	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1909					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.E1908E(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTCGCAGAGATAACAGAGAGT	0.502000														47			10		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980656	121980656	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:121980656G>A	uc003eew.4	+	3	1212	c.774G>A	c.(772-774)gtG>gtA	p.V258V	CASR_uc003eev.4_Silent_p.V258V	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	258					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGGTAGAGGTGATTCAAAATT	0.498000														237			85		0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135508	55135508	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:55135508A>C	uc010rif.2	+	0	149	c.149A>C	c.(148-150)gAg>gCg	p.E50A		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E50E(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGAACCCTGAGGGGCAAAAG	0.443000														87			20		0	0	1	0	0
SLC9A2	6549	broad.mit.edu	37	2	103300642	103300642	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103300642G>A	uc002tca.3	+	4	1414	c.1272G>A	c.(1270-1272)ctG>ctA	p.L424L		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	424						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CCATTCCCCTGACCTTTAAGG	0.463000														162			15		0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86518595	86518595	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:86518595C>T	uc004ana.3	-	3	982	c.838G>A	c.(838-840)Gct>Act	p.A280T	KIF27_uc010mpw.3_Missense_Mutation_p.A280T|KIF27_uc010mpx.3_Missense_Mutation_p.A280T	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	280					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TCCCCAAGAGCGCTTATTACA	0.438000														106			25		0	0	1	0	0
FAM13B	51306	broad.mit.edu	37	5	137354186	137354186	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137354186C>T	uc003lbz.2	-	3	709	c.175G>A	c.(175-177)Gga>Aga	p.G59R	FAM13B_uc003lcb.2_5'UTR|FAM13B_uc003lca.2_Missense_Mutation_p.G59R	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	59	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TGAAAAAGTCCTTGTTGCTCC	0.423000														147			9		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12125318	12125318	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:12125318C>T	uc003nac.3	+	3	5469	c.5290C>T	c.(5290-5292)Cgg>Tgg	p.R1764W	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1764					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GCACCAGAAGCGGGCCAAAGA	0.438000														141			29		0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4847894	4847894	+	Missense_Mutation	SNP	C	T	T	rs146856306	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4847894C>T	uc002mbj.2	-	5	820	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PLIN3_uc002mbk.2_Missense_Mutation_p.A203T|PLIN3_uc002mbl.3_Missense_Mutation_p.A215T	NM_005817	NP_005808	O60664	PLIN3_HUMAN	Homo sapiens perilipin 3 (PLIN3), transcript variant 1, mRNA.	215					vesicle-mediated transport	Golgi apparatus|endosome membrane|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	AGGGATGTGGCGATGCGGGCT	0.597000														58			10		0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781789	107781789	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:107781789C>A	uc003ymm.4	-	0	684	c.630G>T	c.(628-630)caG>caT	p.Q210H		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	210					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCACAGCCACCTGCACTCCAT	0.587000														432			96		3.89424e-36	4.93723e-36	1	1	0
TRIM17	51127	broad.mit.edu	37	1	228595985	228595985	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:228595985G>A	uc001hsu.3	-	6	1736	c.1351C>T	c.(1351-1353)Ccc>Tcc	p.P451S	TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Missense_Mutation_p.P451S	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	451	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				GGCTGCAGGGGGCCTGGGAAG	0.592000														158			55		0	0	1	0	0
LRRC14B	389257	broad.mit.edu	37	5	195268	195268	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:195268C>T	uc003jal.1	+	1	1373	c.1345C>T	c.(1345-1347)Cag>Tag	p.Q449*		NM_001080478	NP_001073947	A6NHZ5	LR14B_HUMAN	Homo sapiens leucine rich repeat containing 14B (LRRC14B), mRNA.	449										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						GTTCAACCAGCAGAAATACGA	0.617000														340			82		0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133136	57133136	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57133136G>A	uc002qnm.4	+	2	719	c.481G>A	c.(481-483)Gac>Aac	p.D161N	ZNF71_uc021vcg.1_Missense_Mutation_p.D161N	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	161						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GTTTGAGTGTGACACCTGTGG	0.597000														136			40		0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53282814	53282814	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:53282814C>T	uc001vhf.2	-	5	757	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	LECT1_uc001vhg.2_Missense_Mutation_p.V216M|LECT1_uc001vhh.2_Missense_Mutation_p.V205M	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	216					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TTTCTTACCACTTCTCTTCTT	0.383000														130			16		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162657	29162657	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29162657T>G	uc002hfs.1	+	1	1901	c.1558T>G	c.(1558-1560)Tta>Gta	p.L520V	ATAD5_uc002hft.1_Missense_Mutation_p.L417V	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	520					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAATGAGTTTAAGACAAAG	0.318000														106			18		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235961352	235961352	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:235961352C>T	uc002vvp.3	+	4	3018	c.2625C>T	c.(2623-2625)taC>taT	p.Y875Y	SH3BP4_uc010fym.3_Silent_p.Y857Y|SH3BP4_uc002vvq.3_Silent_p.Y875Y	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	875					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGCCTACGAGTCTCCCC	0.652000														27			3		0	0	1	0	0
LRWD1	222229	broad.mit.edu	37	7	102113476	102113476	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:102113476G>A	uc003uzn.3	+	14	2062	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T		NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	642					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACATCGTAGCCATCTGGGG	0.592000														139			33		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13971165	13971165	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:13971165G>A	uc010gcf.3	-	0	98	c.16C>T	c.(16-18)Ctg>Ttg	p.L6L	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Silent_p.L6L|SEL1L2_uc002wor.3_Intron|TRNA_Pseudo_uc021wap.1_5'Flank	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	6						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TCTATTAACAGAGACAAGGGC	0.418000														84			15		0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41554206	41554206	+	Missense_Mutation	SNP	G	A	A	rs146518198		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:41554206G>A	uc003xok.3	-	24	2807	c.2723C>T	c.(2722-2724)cCg>cTg	p.P908L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P224L|ANK1_uc003xoi.3_Missense_Mutation_p.P908L|ANK1_uc003xoj.3_Missense_Mutation_p.P908L|ANK1_uc003xol.3_Missense_Mutation_p.P908L|ANK1_uc003xom.3_Missense_Mutation_p.P949L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	908					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGTATGCACCGGGCTGGCCAC	0.622000														105			14		0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45453117	45453117	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:45453117G>T	uc001zus.1	+	29	4131	c.3785G>T	c.(3784-3786)gGc>gTc	p.G1262V	DUOX1_uc001zut.1_Missense_Mutation_p.G1262V|DUOX1_uc010bee.1_Missense_Mutation_p.G642V	NM_017434	NP_787954	Q9NRD9	DUOX1_HUMAN	Homo sapiens dual oxidase 1 (DUOX1), transcript variant 1, mRNA.	1262	Ferric oxidoreductase.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ATCTATGGGGGCGACAAGCTG	0.577000														152			44		1.62957e-23	2.01904e-23	1	1	0
SEMA5A	9037	broad.mit.edu	37	5	9154665	9154665	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:9154665G>A	uc003jek.2	-	11	2128	c.1416C>T	c.(1414-1416)ttC>ttT	p.F472F		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A (SEMA5A), mRNA.	472	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane		p.F472F(2)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCAGGCCCACGAACAGGACAC	0.612000														181			36		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135085191	135085191	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:135085191C>T	uc021qbe.1	-	11	1211	c.1125G>A	c.(1123-1125)atG>atA	p.M375I	ADAM8_uc009ybi.3_Missense_Mutation_p.M375I|ADAM8_uc010qva.2_Missense_Mutation_p.M336I	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	336					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGTCACTGAACATCCTGGGGA	0.682000														22			4		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9225459	9225459	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9225459C>A	uc001qvk.1	-	29	3878	c.3765G>T	c.(3763-3765)gtG>gtT	p.V1255V	A2M_uc009zgk.1_Silent_p.V1105V	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1255					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGAGAGCCACCACTGTGTCCT	0.483000														61			7		0.00198382	0.00202356	1	1	0
CNBP	7555	broad.mit.edu	37	3	128890570	128890570	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128890570G>A	uc021xdu.1	-	0	45	c.31C>T	c.(31-33)Cga>Tga	p.R11*	CNBP_uc021xdt.1_Nonsense_Mutation_p.R11*|CNBP_uc003elr.4_Nonsense_Mutation_p.R11*|CNBP_uc003elq.4_Nonsense_Mutation_p.R11*|CNBP_uc021xdv.1_Nonsense_Mutation_p.R11*|CNBP_uc021xdw.1_Nonsense_Mutation_p.R11*|CNBP_uc011bku.2_Nonsense_Mutation_p.R11*	NM_001127192	NP_001120664	P62633	CNBP_HUMAN	Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA.	11					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						TGGCCAGATCGTCCACACTTG	0.463000														75			22		0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47337513	47337513	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47337513C>T	uc010gqb.3	+	10	950	c.687C>T	c.(685-687)atC>atT	p.I229I	PCBP3_uc002zhp.2_Silent_p.I229I|PCBP3_uc010gqc.2_Missense_Mutation_p.P296S|PCBP3_uc002zhq.2_Silent_p.I229I|PCBP3_uc002zhs.2_Silent_p.I204I|PCBP3_uc002zht.2_Silent_p.I220I	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	229					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCTACACAATCCAGGGACAGT	0.562000														148			29		0	0	1	0	0
PPT2	9374	broad.mit.edu	37	6	32130344	32130344	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:32130344G>A	uc003nzw.3	+	8	904	c.729_splice	c.e8-1	p.S243_splice	PPT2_uc003nzx.3_Splice_Site_p.S237_splice|PPT2_uc003nzz.3_Splice_Site_p.S237_splice|PPT2_uc021yvl.1_Splice_Site_p.S114_splice|EGFL8_uc003nzy.2_Splice_Site|PPT2_uc010jtu.1_Splice_Site_p.S237_splice|EGFL8_uc003oab.1_5'Flank|EGFL8_uc003oac.1_5'Flank	NM_138717	NP_005146	Q9UMR5	PPT2_HUMAN	Homo sapiens palmitoyl-protein thioesterase 2 (PPT2), transcript variant 2, mRNA.	237					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTCTTTGTAGCTTCTTTGGT	0.542000														535			20		0	0	1	0	0
OSBPL9	114883	broad.mit.edu	37	1	52237761	52237761	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52237761G>A	uc001cst.3	+	12	1195	c.1012G>A	c.(1012-1014)Gtc>Atc	p.V338I	OSBPL9_uc001css.3_Missense_Mutation_p.V325I|OSBPL9_uc009vza.3_Missense_Mutation_p.V303I|OSBPL9_uc001csu.3_Missense_Mutation_p.V330I|OSBPL9_uc001csv.3_Missense_Mutation_p.V155I|OSBPL9_uc001csw.3_Missense_Mutation_p.V307I|OSBPL9_uc001csy.3_Missense_Mutation_p.V142I|OSBPL9_uc001csz.3_Missense_Mutation_p.V142I|OSBPL9_uc001cta.3_Missense_Mutation_p.V210I|OSBPL9_uc001ctb.3_Missense_Mutation_p.V105I	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	Homo sapiens oxysterol binding protein-like 9 (OSBPL9), transcript variant 6, mRNA.	320					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATCTGCCTCAGTCCTGACACA	0.393000														49			15		0	0	1	0	0
KCNQ2	3785	broad.mit.edu	37	20	62070995	62070995	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62070995C>T	uc002yey.1	-	5	1060	c.883G>A	c.(883-885)Gca>Aca	p.A295T	KCNQ2_uc002yez.1_Missense_Mutation_p.A295T|KCNQ2_uc002yfa.1_Missense_Mutation_p.A295T|KCNQ2_uc002yfb.1_Missense_Mutation_p.A295T|KCNQ2_uc011aax.1_Missense_Mutation_p.A295T|KCNQ2_uc002yfc.1_Missense_Mutation_p.A295T	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	295					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.A294V(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGAAGGTTGCCGCAAGGAGC	0.632000														181			50		0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777195	137777195	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:137777195G>A	uc004cfg.1	+	4	422	c.412G>A	c.(412-414)Gac>Aac	p.D138N	FCN2_uc004cfh.1_Missense_Mutation_p.D100N	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	138	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		CATGGACACGGACGGAGGGGG	0.667000														71			12		0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6205375	6205375	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:6205375T>G	uc003spt.3	-	9	994	c.890A>C	c.(889-891)gAa>gCa	p.E297A	CYTH3_uc011jws.2_Missense_Mutation_p.E212A	NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	298	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGTTGTGTATTCAAAGTAATA	0.612000														130			24		0	0	1	0	0
AK310665	0	broad.mit.edu	37	17	20330212	20330212	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:20330212C>T	uc010cqz.3	+	1		c.164C>T								Homo sapiens cDNA, FLJ17707.																		TTTGGTACCACGAGACCCAGC	0.458000														120			32		0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982253	57982253	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57982253A>G	uc010rkc.2	+	0	37	c.37A>G	c.(37-39)Aat>Gat	p.N13D		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	13					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)				GATCGGCAGAAATATGCATCA	0.403000														124			13		0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853310	131853310	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:131853310G>A	uc003vra.4	-	21	4268	c.4039C>T	c.(4039-4041)Cgt>Tgt	p.R1347C		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1347						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TTCTCCACACGCTCCTGCCGG	0.602000														96			8		0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138356876	138356876	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138356876C>T	uc003ldo.3	-	7	957	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SIL1_uc003ldp.3_Missense_Mutation_p.G251S|SIL1_uc003ldq.1_Missense_Mutation_p.G44S	NM_001037633	NP_071909	Q9H173	SIL1_HUMAN	Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA.	251	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAGGCAGCGCCCAGCACAAAC	0.527000									Marinesco-Sjgren syndrome					108			19		0	0	1	0	0
ATF1	466	broad.mit.edu	37	12	51203316	51203316	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:51203316C>A	uc001rww.4	+	3	580	c.272C>A	c.(271-273)gCt>gAt	p.A91D	ATF1_uc010smu.2_Intron	NM_005171	NP_005162	P18846	ATF1_HUMAN	Homo sapiens activating transcription factor 1 (ATF1), mRNA.	91					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						GTTTCTGCTGCTGTCACTTCT	0.388000			T	"""EWSR1, FUS"""	"""malignant melanoma of soft parts , angiomatoid fibrous histiocytoma """									82			18		1.01871e-10	1.15017e-10	1	1	0
TEX2	55852	broad.mit.edu	37	17	62290429	62290429	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62290429T>G	uc002jed.3	-	1	1300	c.1149A>C	c.(1147-1149)aaA>aaC	p.K383N	TEX2_uc002jec.3_Missense_Mutation_p.K383N|TEX2_uc002jee.3_Missense_Mutation_p.K383N	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	383					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCTGGGAACTTTTCAGTTCTA	0.478000														150			32		0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98376418	98376418	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:98376418C>T	uc001kmq.3	-	12	2120	c.1992G>A	c.(1990-1992)aaG>aaA	p.K664K	PIK3AP1_uc001kmo.3_Silent_p.K263K|PIK3AP1_uc001kmp.3_Silent_p.K486K|5S_rRNA_uc021pwo.1_5'Flank	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	664						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CTGATTTTTGCTTCTCTCTCT	0.433000														139			32		0	0	1	0	0
NCAPG2	54892	broad.mit.edu	37	7	158457323	158457323	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:158457323C>A	uc011kwe.1	-	13	1744	c.1599G>T	c.(1597-1599)gaG>gaT	p.E533D	NCAPG2_uc010lqu.1_Missense_Mutation_p.E325D|NCAPG2_uc003wnx.1_Missense_Mutation_p.E533D|NCAPG2_uc003wnv.1_Missense_Mutation_p.E533D|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.E34D|NCAPG2_uc011kwd.1_Missense_Mutation_p.E34D	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	533					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding	p.P532L(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		ACCAGACCTCCTCCGGCTGAT	0.572000														210			46		1.41504e-22	1.74518e-22	1	1	0
TRIM56	81844	broad.mit.edu	37	7	100730866	100730866	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100730866T>C	uc003uxq.3	+	2	504	c.273T>C	c.(271-273)tgT>tgC	p.C91C	TRIM56_uc003uxr.3_Silent_p.C91C|TRIM56_uc022aiw.1_Silent_p.C91C	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	91					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCGGGCCTGTGGAGACCTGC	0.701000														215			45		0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2160910	2160910	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:2160910G>T	uc001aja.4	+	0	777	c.705G>T	c.(703-705)gaG>gaT	p.E235D		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	235					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TGGTGCCCGAGCTCTACAGCA	0.682000														59			21		2.89027e-11	3.28353e-11	1	1	0
SMOC2	64094	broad.mit.edu	37	6	168949822	168949822	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:168949822T>C	uc003qwr.2	+	6	829	c.609T>C	c.(607-609)cgT>cgC	p.R203R	SMOC2_uc003qws.2_Silent_p.R192R	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	192					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		TTGCATCACGTTACCCTACCC	0.393000														92			13		0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394104	64394104	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:64394104G>T	uc003pep.1	+	2	506	c.481G>T	c.(481-483)Gca>Tca	p.A161S	PHF3_uc010kaf.1_Missense_Mutation_p.A161S|PHF3_uc003pem.2_Missense_Mutation_p.A114S|PHF3_uc010kag.1_Missense_Mutation_p.A73S|PHF3_uc010kah.1_5'UTR|PHF3_uc003pen.2_Missense_Mutation_p.A73S|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.A161S	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	161					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAAAAAAAGCATCTGGGAA	0.393000														159			37		2.75727e-19	3.34553e-19	1	1	0
UPF2	26019	broad.mit.edu	37	10	12070779	12070779	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12070779G>A	uc001ila.3	-	1	1584	c.1110C>T	c.(1108-1110)gaC>gaT	p.D370D	UPF2_uc001ilb.3_Silent_p.D370D|UPF2_uc001ilc.3_Silent_p.D370D|UPF2_uc009xiz.2_Silent_p.D370D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	370	MIF4G 1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	RNA binding|identical protein binding	p.R369G(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GCTCCCTGTGGTCCCTTTTCA	0.368000														85			25		0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215610503	215610503	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215610503G>T	uc002veu.2	-	7	1888	c.1753C>A	c.(1753-1755)Ctc>Atc	p.L585I	BARD1_uc021vwe.1_Missense_Mutation_p.L566I|BARD1_uc021vwf.1_Missense_Mutation_p.L488I|BARD1_uc021vwg.1_Missense_Mutation_p.L134I|BARD1_uc021vwh.1_Missense_Mutation_p.L115I|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Missense_Mutation_p.L151I|BARD1_uc010zjm.1_Missense_Mutation_p.L441I	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	585	BRCT 1.				DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTCACTGAGCATTTTCTGT	0.403000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					209			45		3.54909e-21	4.35023e-21	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50955097	50955097	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50955097C>T	uc009xog.3	-	7	1260	c.1226G>A	c.(1225-1227)cGt>cAt	p.R409H	OGDHL_uc001jie.3_Missense_Mutation_p.R382H|OGDHL_uc010qgt.2_Missense_Mutation_p.R325H|OGDHL_uc010qgu.2_Missense_Mutation_p.R173H|OGDHL_uc009xoh.2_Missense_Mutation_p.R173H	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	382					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGCATCTCCACGGTAGAACTG	0.642000														164			33		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19431088	19431088	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19431088T>C	uc001bbi.3	-	85	12722	c.12718A>G	c.(12718-12720)Agt>Ggt	p.S4240G	UBR4_uc010ocw.2_5'Flank|UBR4_uc001bbg.3_5'UTR|UBR4_uc001bbh.3_5'UTR	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4240					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCTGTGAGACTTTTAAGGGCA	0.517000														45			7		0	0	1	0	0
GFRA2	2675	broad.mit.edu	37	8	21608179	21608179	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21608179G>A	uc003wzu.1	-	3	1390	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	GFRA2_uc003wzv.1_Missense_Mutation_p.P134S|GFRA2_uc003wzw.1_Missense_Mutation_p.P106S|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	239						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GAGCAGCTGGGCAGGATGGTT	0.662000														94			16		0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130479252	130479252	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130479252C>A	uc004brq.1	+	1	215	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PTRH1_uc004brm.3_5'Flank|PTRH1_uc004bro.3_5'Flank|PTRH1_uc010mxm.3_5'Flank|PTRH1_uc011mah.2_Intron|TTC16_uc011mai.1_Missense_Mutation_p.P50T|TTC16_uc004brr.1_5'Flank	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	50							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGATGTAAAACCAAAGGTCAC	0.532000														94			28		2.65835e-16	3.16856e-16	1	1	0
BTN3A1	11119	broad.mit.edu	37	6	26413464	26413464	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26413464G>A	uc003nhv.3	+	9	1454	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	BTN3A1_uc011dkj.2_3'UTR|BTN3A1_uc010jqj.3_3'UTR|BTN3A1_uc011dkk.2_Silent_p.V310V	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	362	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGAGGAGTGTGCAGCGTGCCA	0.502000														221			45		0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28167624	28167624	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:28167624C>T	uc002dpa.1	-	6	1369	c.868G>A	c.(868-870)Gcg>Acg	p.A290T	XPO6_uc002dpb.1_Missense_Mutation_p.A276T|XPO6_uc010vcp.1_Missense_Mutation_p.A290T	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	290					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TTAACTGACGCCATCTTTCTG	0.567000														163			49		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77427277	77427277	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77427277C>A	uc004ajl.1	-	11	1619	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	TRPM6_uc004ajk.1_Nonsense_Mutation_p.E456*|TRPM6_uc022bib.1_Nonsense_Mutation_p.E456*|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Nonsense_Mutation_p.E461*|TRPM6_uc010mpd.1_Nonsense_Mutation_p.E461*|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	461					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTCCATATTCTATTAAGAGC	0.413000														103			21		5.26018e-13	6.10868e-13	1	1	0
CSGALNACT1	55790	broad.mit.edu	37	8	19315993	19315993	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19315993A>G	uc011kyn.2	-	4	1859	c.795T>C	c.(793-795)gtT>gtC	p.V265V	CSGALNACT1_uc011kyo.2_Silent_p.V265V|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Silent_p.V265V|CSGALNACT1_uc003wzh.2_Non-coding_Transcript	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	265					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		GAGGCACGATAACATTGATAA	0.443000														388			97		0	0	1	0	0
POMC	5443	broad.mit.edu	37	2	25384073	25384073	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:25384073G>T	uc002rfy.1	-	3	944	c.681C>A	c.(679-681)cgC>cgA	p.R227R	POMC_uc002rfz.1_Silent_p.R227R|POMC_uc002rga.1_Silent_p.R227R	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	227					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	GGCTGCCCCAGCGGAAGTGCT	0.652000														111			23		1.64293e-13	1.91604e-13	1	1	0
OR51V1	283111	broad.mit.edu	37	11	5221587	5221587	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221587C>T	uc010qyz.2	-	0	344	c.344G>A	c.(343-345)gGt>gAt	p.G115D		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGACAGACCATGGATGAA	0.502000														71			12		0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12368655	12368655	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:12368655G>A	uc001atv.3	+	26	6748	c.6607G>A	c.(6607-6609)Gag>Aag	p.E2203K	VPS13D_uc001atw.3_Missense_Mutation_p.E2203K|VPS13D_uc001atx.3_Missense_Mutation_p.E1391K|VPS13D_uc001aty.1_5'Flank	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2203					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CCTCTTAACCGAGCCTTGTAG	0.468000														215			23		0	0	1	0	0
BCAR3	8412	broad.mit.edu	37	1	94140364	94140364	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:94140364G>T	uc001dpz.3	-	1	398	c.123C>A	c.(121-123)gcC>gcA	p.A41A	BCAR3_uc001dqa.3_Silent_p.A41A|BCAR3_uc001dqb.3_Silent_p.A41A	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	41					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CATCTTGATAGGCATCTGGGC	0.562000														67			17		0.000422831	0.000435635	1	1	0
CLEC16A	23274	broad.mit.edu	37	16	11114148	11114148	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11114148G>A	uc021tcy.1	+	11	1632	c.1402G>A	c.(1402-1404)Gcc>Acc	p.A468T	CLEC16A_uc002dan.4_Missense_Mutation_p.A450T|CLEC16A_uc002dao.3_Missense_Mutation_p.A466T	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	468								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GAAAAGCGCCGCCGCCACCTG	0.617000														55			14		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18681875	18681875	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:18681875G>A	uc003zne.4	+	11	1559	c.1407G>A	c.(1405-1407)atG>atA	p.M469I	ADAMTSL1_uc003znc.4_Missense_Mutation_p.M469I	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	469	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCGAGGAATGCACACAGGAG	0.517000														265			61		0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16251606	16251606	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:16251606C>T	uc002den.4	-	26	3833	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1266	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TCCCGGAACTCGATCTGCCCG	0.627000														94			21		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215838750	215838750	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:215838750C>A	uc002vew.3	-	35	5705	c.5485G>T	c.(5485-5487)Gac>Tac	p.D1829Y	ABCA12_uc002vev.3_Missense_Mutation_p.D1511Y|ABCA12_uc010zjn.2_Missense_Mutation_p.D756Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1829					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)		TCCAGACTGTCTTTGTTTAAA	0.373000														65			13		5.50884e-06	5.8131e-06	1	1	0
HSD17B4	3295	broad.mit.edu	37	5	118861665	118861665	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:118861665C>T	uc003ksj.3	+	18	1760	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C	HSD17B4_uc011cwh.2_Missense_Mutation_p.R525C|HSD17B4_uc011cwg.2_Missense_Mutation_p.R519C|HSD17B4_uc011cwi.2_Missense_Mutation_p.R568C|HSD17B4_uc003ksk.4_Missense_Mutation_p.R396C|HSD17B4_uc011cwj.2_Missense_Mutation_p.R396C|HSD17B4_uc010jcn.2_Missense_Mutation_p.R281C	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	543	Enoyl-CoA hydratase 2.|MaoC-like.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TTCTGCCAGGCGTGTGTTACA	0.343000														104			17		0	0	1	0	0
MEGF11	84465	broad.mit.edu	37	15	66190367	66190367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:66190367C>T	uc002apm.2	-	22	3181	c.3040G>A	c.(3040-3042)Gac>Aac	p.D1014N	MEGF11_uc002apl.2_Missense_Mutation_p.D939N	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	1014						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CTAGGTAGGTCGTATGCATTC	0.478000														83			14		0	0	1	0	0
FUT11	170384	broad.mit.edu	37	10	75532151	75532151	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75532151A>G	uc001jva.3	+	0	103	c.60A>G	c.(58-60)gcA>gcG	p.A20A	FUT11_uc001juy.1_Silent_p.A20A|FUT11_uc001juz.1_Silent_p.A20A	NM_173540	NP_775811	Q495W5	FUT11_HUMAN	Homo sapiens fucosyltransferase 11 (alpha (1,3) fucosyltransferase) (FUT11), mRNA.	20					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					GTGTCTGTGCAGCCAGCGGCC	0.731000														41			10		0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24076437	24076437	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24076437C>T	uc001bho.3	+	3	377	c.317_splice	c.e3+1	p.R106_splice		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	106					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TCCTGTGGAACGGTAAGAACA	0.393000														41			7		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475757	140475757	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140475757C>T	uc003lil.3	+	0	1521	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	PCDHB2_uc003lim.1_Silent_p.F122F	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	461	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.L460M(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.632000														438			83		0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178408655	178408655	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:178408655C>A	uc001glq.3	+	5	1537	c.773C>A	c.(772-774)cCt>cAt	p.P258H	RASAL2_uc001glr.3_Missense_Mutation_p.P110H	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	110	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433000														107			7		5.18039e-06	5.47662e-06	1	1	0
PTDSS2	81490	broad.mit.edu	37	11	488249	488249	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:488249C>T	uc001lpj.3	+	6	848	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN	Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	224						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GCGTGATGTTCGAGTTCCTGG	0.637000														102			23		0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113362	209113362	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:209113362G>A	uc002vcs.3	-	3	391	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	IDH1_uc002vct.3_Missense_Mutation_p.R49C|IDH1_uc002vcu.3_Missense_Mutation_p.R49C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	49					2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R49C(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		GTGGCATCACGATTCTCTATG	0.398000			Mis		gliobastoma									91			29		0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453322	53453322	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53453322T>G	uc002qal.2	-	4	2057	c.1706A>C	c.(1705-1707)aAa>aCa	p.K569T	ZNF816_uc010eqj.3_Intron|ZNF816_uc002qak.2_Intron|ZNF816_uc021uzc.1_Missense_Mutation_p.K569T|ZNF816_uc002qam.2_Missense_Mutation_p.K569T	NM_001031665	NP_001189386	Q0VGE8	ZN816_HUMAN	Homo sapiens zinc finger protein 816 (ZNF816), transcript variant 1, mRNA.	569					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						CTTCGCACATTTATTACACTT	0.388000														120			12		0	0	1	0	0
ZNF498	221785	broad.mit.edu	37	7	99227349	99227349	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99227349G>T	uc003url.1	+	7	1668	c.1341G>T	c.(1339-1341)caG>caT	p.Q447H	ZNF498_uc003urm.1_Missense_Mutation_p.Q283H|ZNF498_uc010lge.1_Missense_Mutation_p.Q283H|ZNF498_uc003urn.3_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.Q375H|ZNF498_uc003uro.1_Missense_Mutation_p.Q231H	NM_145115	NP_660090	Q6NSZ9	ZN498_HUMAN	Homo sapiens zinc finger protein 498 (ZNF498), mRNA.	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(1)	24	all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					AGCACCTGCAGGTGCACCGGA	0.647000														127			36		8.73648e-17	1.04385e-16	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113518958	113518958	+	Silent	SNP	G	A	A	rs139092367	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113518958G>A	uc003ynu.3	-	28	5016	c.4857C>T	c.(4855-4857)acC>acT	p.T1619T	CSMD3_uc003yns.3_Silent_p.T891T|CSMD3_uc003ynt.3_Silent_p.T1579T|CSMD3_uc011lhx.2_Silent_p.T1515T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1619	CUB 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGCATTGACGGTGATAGTCC	0.398000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				110			25		0	0	1	0	0
FHDC1	85462	broad.mit.edu	37	4	153897279	153897279	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:153897279C>T	uc003inf.2	+	10	2911	c.2836C>T	c.(2836-2838)Cgg>Tgg	p.R946W		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	946					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAACTCCGTGCGGAGGGCCTC	0.716000														85			12		0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166243340	166243340	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:166243340G>A	uc002udc.3	+	25	4926	c.4636G>A	c.(4636-4638)Gtc>Atc	p.V1546I	SCN2A_uc002udd.3_Missense_Mutation_p.V1546I|SCN2A_uc002ude.3_Missense_Mutation_p.V1546I|SCN2A_uc021vry.1_Missense_Mutation_p.V46I	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1546					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCTTAACATGGTCACCATGAT	0.373000														55			22		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160825793	160825793	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:160825793C>T	uc002ube.2	-	18	2950	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	PLA2R1_uc010zcp.2_Missense_Mutation_p.R913K|PLA2R1_uc002ubf.3_Missense_Mutation_p.R913K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	913	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AAAGCCACATCTCTGGCTCTG	0.363000														61			4		0	0	1	0	0
FZD8	8325	broad.mit.edu	37	10	35929686	35929686	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:35929686G>A	uc001iyz.1	-	0	677	c.672C>T	c.(670-672)ggC>ggT	p.G224G		NM_031866	NP_114072	Q9H461	FZD8_HUMAN	Homo sapiens frizzled family receptor 8 (FZD8), mRNA.	224					T cell differentiation in thymus|axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|vasculature development	Golgi apparatus|cell projection|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGGAGCCGCGCCGCCGCCAG	0.806000														40			5		0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757956	160757956	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:160757956G>A	uc003lys.1	-	8	1229	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	GABRB2_uc011deh.1_Silent_p.R176R|GABRB2_uc003lyr.1_Silent_p.R337R|GABRB2_uc003lyt.1_Silent_p.R337R|GABRB2_uc021yhg.1_Silent_p.R274R	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	337					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CTTTCTTTTGGCGTTGGGGCC	0.502000														190			46		0	0	1	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850414	58850414	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58850414C>T	uc002qsc.2	+	2	1345	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	400					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TCAACACCAGCGCATCCACAC	0.632000														179			28		0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23713497	23713497	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:23713497G>T	uc002dma.4	-	10	1492	c.1323C>A	c.(1321-1323)acC>acA	p.T441T	ERN2_uc010bxp.3_Silent_p.T441T|ERN2_uc010bxq.1_Silent_p.T249T	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	393					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CTGGGGCCTGGGTATTCTCTG	0.607000														179			40		1.47244e-24	1.83146e-24	1	1	0
ITIH2	3698	broad.mit.edu	37	10	7762890	7762890	+	Silent	SNP	C	T	T	rs148694864	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7762890C>T	uc001ijs.3	+	6	864	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	234					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.F234F(4)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAGGCCATTTCGATGGTGTTC	0.483000														132			31		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528646	75528646	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:75528646C>T	uc001juw.3	+	16	2440	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	SEC24C_uc009xrj.2_Missense_Mutation_p.R612W|SEC24C_uc001jux.3_Missense_Mutation_p.R754W|SEC24C_uc010qko.2_Missense_Mutation_p.R635W|SEC24C_uc010qkp.2_Missense_Mutation_p.R2W|SEC24C_uc010qkq.2_Missense_Mutation_p.R2W	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	754					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TGCTGTGATGCGGGTCCGGAC	0.567000														109			11		0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	5924003	5924003	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:5924003G>T	uc001alq.2	-	28	4355	c.4087C>A	c.(4087-4089)Cac>Aac	p.H1363N	MIR4689_uc021ofn.1_5'Flank|NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	1363					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTGCAGGTGGAATGTCCTC	0.632000														77			10		0.00621372	0.00630477	1	1	0
SBF2	81846	broad.mit.edu	37	11	10051375	10051375	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10051375G>A	uc001mib.2	-	4	588	c.450C>T	c.(448-450)gtC>gtT	p.V150V	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	150	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTTCCAAGGAGACATTCAGGC	0.408000														337			78		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470912	161470912	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:161470912G>A	uc003qtn.3	+	2	1750	c.1608G>A	c.(1606-1608)caG>caA	p.Q536Q	MAP3K4_uc010kkc.1_Silent_p.Q536Q|MAP3K4_uc003qto.3_Silent_p.Q536Q|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	536					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CACTGAAGCAGATGGGGTTAA	0.443000														106			23		0	0	1	0	0
PITPNA	5306	broad.mit.edu	37	17	1438814	1438814	+	Splice_Site	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1438814T>C	uc021tng.1	-	8	713	c.457_splice	c.e8-1	p.D153_splice	PITPNA_uc021tnf.1_Splice_Site_p.D62_splice|PITPNA_uc010cjt.3_Splice_Site_p.D37_splice	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	153					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		CTTGTAATCCTGAGAGAAATT	0.478000														56			15		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24923233	24923233	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:24923233C>A	uc001ywo.3	+	0	2693	c.2219C>A	c.(2218-2220)gCc>gAc	p.A740D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	740					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCAACACTGCCTCAGTCCAA	0.547000														286			58		4.96213e-28	6.22615e-28	1	1	0
ADM	133	broad.mit.edu	37	11	10328148	10328148	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10328148C>T	uc001mil.1	+	3	674	c.518C>T	c.(517-519)gCt>gTt	p.A173V		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	173					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCACACGGGGCTCCAGCCCCC	0.672000														87			19		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8340450	8340450	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:8340450C>T	uc003zkk.3	-	41	5889	c.5146G>A	c.(5146-5148)Gct>Act	p.A1716T	PTPRD_uc003zkp.3_Missense_Mutation_p.A1310T|PTPRD_uc003zkq.3_Missense_Mutation_p.A1309T|PTPRD_uc003zkr.3_Missense_Mutation_p.A1300T|PTPRD_uc003zks.3_Missense_Mutation_p.A1309T|PTPRD_uc022bdj.1_Missense_Mutation_p.A1306T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1716	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1716A(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCTGGGTAGCGATGTAGGCT	0.443000										TSP Lung(15;0.13)				71			13		0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39263556	39263556	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39263556G>A	uc001uwv.3	+	0	2384	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	692					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTTGTGATTCGTATCCATCCT	0.567000														164			26		0	0	1	0	0
NCAPD2	9918	broad.mit.edu	37	12	6618917	6618917	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6618917G>A	uc001qoo.2	+	2	208	c.162G>A	c.(160-162)ctG>ctA	p.L54L	NCAPD2_uc009zen.1_Silent_p.L54L|NCAPD2_uc010sfd.1_Nonsense_Mutation_p.W29*|SCARNA10_uc009zeo.1_5'Flank	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	54	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGGGGCCCCTGGCTATGCTGC	0.413000														292			14		0	0	1	0	0
C9orf123	90871	broad.mit.edu	37	9	7799610	7799610	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:7799610C>T	uc003zki.3	-	0	169	c.125G>A	c.(124-126)cGc>cAc	p.R42H	C9orf123_uc022bdi.1_Missense_Mutation_p.R42H|C9orf123_uc003zkj.3_Missense_Mutation_p.R42H			Q96GE9	CI123_HUMAN	Homo sapiens chromosome 9 open reading frame 123 (C9orf123), mRNA.	42						integral to membrane				lung(1)	1		all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356)		GBM - Glioblastoma multiforme(50;0.0561)		CTTCAACAGGCGGTGTTCTGC	0.662000														117			28		0	0	1	0	0
PWP1	11137	broad.mit.edu	37	12	108082406	108082406	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:108082406G>A	uc001tmo.1	+	2	233	c.146G>A	c.(145-147)gGc>gAc	p.G49D	PWP1_uc001tmn.1_Non-coding_Transcript	NM_007062	NP_008993	Q13610	PWP1_HUMAN	Homo sapiens PWP1 homolog (S. cerevisiae) (PWP1), mRNA.	49					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GAAGGTGGTGGCAGTGATGAA	0.488000														130			16		0	0	1	0	0
ALMS1P	200420	broad.mit.edu	37	2	73901051	73901051	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:73901051C>T	uc010yrl.2	+	4	849	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W						Homo sapiens Alstrom syndrome 1 pseudogene (ALMS1P), non-coding RNA.																		AAAGAGCGAGCGGGATGCGCT	0.542000														27			6		0	0	1	0	0
RBKS	64080	broad.mit.edu	37	2	28050516	28050516	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:28050516G>A	uc002rlo.1	-	6	724	c.713C>T	c.(712-714)gCt>gTt	p.A238V	RBKS_uc010ezi.1_Missense_Mutation_p.A171V|RBKS_uc010ymg.2_Missense_Mutation_p.A238V	NM_022128	NP_071411	Q9H477	RBSK_HUMAN	Homo sapiens ribokinase (RBKS), mRNA.	238					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					ACATCCTTCAGCCCCTAAGGT	0.498000														115			30		0	0	1	0	0
WIPI2	26100	broad.mit.edu	37	7	5269261	5269261	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:5269261A>G	uc003snv.3	+	11	1360	c.1144A>G	c.(1144-1146)Acc>Gcc	p.T382A	WIPI2_uc003snw.3_Missense_Mutation_p.T382A|WIPI2_uc003snx.3_Missense_Mutation_p.T364A|WIPI2_uc003sny.3_Missense_Mutation_p.T364A|WIPI2_uc010ksv.3_Missense_Mutation_p.T238A|WIPI2_uc003soa.3_Missense_Mutation_p.T323A	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	382					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TCTGGAAACGACCAATGAGAT	0.592000														56			6		0	0	1	0	0
STRADA	92335	broad.mit.edu	37	17	61781025	61781025	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:61781025G>A	uc002jbm.3	-	12	1504	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D	LIMD2_uc002jbl.4_5'Flank|STRADA_uc002jbn.3_Silent_p.D352D|STRADA_uc010wpq.2_3'UTR|STRADA_uc010wpr.2_3'UTR|STRADA_uc002jbo.3_Silent_p.D373D|STRADA_uc002jbp.3_3'UTR|STRADA_uc010ddw.3_Silent_p.D381D|STRADA_uc002jbr.3_3'UTR	NM_001003787	NP_001003788	Q7RTN6	STRAA_HUMAN	Homo sapiens STE20-related kinase adaptor alpha (STRADA), transcript variant 1, mRNA.	410					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|kinase binding|protein kinase activity	p.Q409R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						TTCCACTGTGGTCCTGAGACT	0.562000														115			25		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70918003	70918003	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70918003T>C	uc021vjc.1	-	7	1029	c.764A>G	c.(763-765)gAc>gGc	p.D255G	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.D255G|ADD2_uc002sgz.3_Missense_Mutation_p.D255G|ADD2_uc010fdt.2_Missense_Mutation_p.D255G|ADD2_uc002shc.2_Missense_Mutation_p.D255G|ADD2_uc010fdu.2_Missense_Mutation_p.D271G	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	255					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATAGGCCATGTCCCCCACCAG	0.562000														135			15		0	0	1	0	0
CORO7-PAM16	100529144	broad.mit.edu	37	16	4409543	4409543	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:4409543C>T	uc002cwf.3	-	21	2631	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T	CORO7-PAM16_uc002cwe.3_Non-coding_Transcript|CORO7-PAM16_uc002cwg.4_Missense_Mutation_p.A510T|CORO7-PAM16_uc002cwh.4_Missense_Mutation_p.A730T|CORO7-PAM16_uc010uxh.2_Missense_Mutation_p.A712T|CORO7-PAM16_uc010uxi.2_Missense_Mutation_p.A645T|CORO7-PAM16_uc002cwi.1_Missense_Mutation_p.A510T	NM_001201479	NP_001188408			Homo sapiens CORO7-PAM16 readthrough (CORO7-PAM16), mRNA.																		GTTGAGGGAGCCACGTCCAGG	0.667000											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		123			20		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99691794	99691794	+	Splice_Site	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99691794A>T	uc003usw.1	-	13	2358	c.1848_splice	c.e13+1	p.L616_splice	MCM7_uc003usv.1_Splice_Site_p.L440_splice|MCM7_uc003usx.1_Splice_Site_p.L440_splice|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	616	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTGGGCACTTACCAGAGCAGT	0.587000														197			39		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	141012423	141012423	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:141012423G>T	uc004cog.3	+	41	5942	c.5797G>T	c.(5797-5799)Gag>Tag	p.E1933*	CACNA1B_uc022bqn.1_Nonsense_Mutation_p.E1933*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.E1147*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1935					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGGCATCAAAGAGTCTGTCTC	0.572000														26			6		0.00116845	0.00119477	1	1	0
CCT3	7203	broad.mit.edu	37	1	156279038	156279038	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156279038G>A	uc001fol.2	-	13	1821	c.1590C>T	c.(1588-1590)ggC>ggT	p.G530G	CCT3_uc010phj.2_Silent_p.G484G|CCT3_uc010phk.2_Silent_p.G484G|CCT3_uc001fon.2_Silent_p.G492G|CCT3_uc010phl.2_Silent_p.G484G	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	530					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTGGTCATCGCCTTTCTTTT	0.527000														256			54		0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17418045	17418045	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:17418045G>T	uc010hev.3	-	10	937	c.673C>A	c.(673-675)Cta>Ata	p.L225I	TBC1D5_uc003cbf.3_Missense_Mutation_p.L225I|TBC1D5_uc003cbe.3_Missense_Mutation_p.L225I|TBC1D5_uc010hew.1_Missense_Mutation_p.L177I	NM_001134381	NP_001127853	Q92609	TBCD5_HUMAN	Homo sapiens TBC1 domain family, member 5 (TBC1D5), transcript variant 1, mRNA.	225	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CTGGCATGTAGAAAAGCTTGG	0.413000														91			13		6.72482e-11	7.60803e-11	1	1	0
TMTC4	84899	broad.mit.edu	37	13	101287360	101287360	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:101287360C>T	uc001vot.3	-	10	1605	c.1292G>A	c.(1291-1293)cGt>cAt	p.R431H	TMTC4_uc001vou.3_Missense_Mutation_p.R412H|TMTC4_uc010tja.2_Missense_Mutation_p.R301H|TMTC4_uc001vov.1_Missense_Mutation_p.R157H|TMTC4_uc001vow.1_Missense_Mutation_p.R195H	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	412						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTAGAGGACACGCTCTGCGAC	0.527000														83			12		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085814	92085814	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:92085814A>G	uc001pdj.4	+	0	553	c.536A>G	c.(535-537)cAg>cGg	p.Q179R		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	179	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGTTGCCCAGGTGACTGCA	0.408000										TCGA Ovarian(4;0.039)				83			15		0	0	1	0	0
RNF157	114804	broad.mit.edu	37	17	74169839	74169839	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74169839G>A	uc002jqz.3	-	2	309	c.240C>T	c.(238-240)ccC>ccT	p.P80P	RNF157_uc002jra.3_Silent_p.P80P	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	80			P -> H (in dbSNP:rs2289602).				zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			GAGTCTTCACGGGTTCTTGGG	0.537000														42			9		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15284889	15284889	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15284889C>T	uc002nan.3	-	24	4802	c.4726G>A	c.(4726-4728)Gag>Aag	p.E1576K		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1576					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCGATCACCTCGGGGGCCAGC	0.637000														95			28		0	0	1	0	0
GARS	2617	broad.mit.edu	37	7	30656818	30656818	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30656818G>A	uc003tbm.3	+	9	1640	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	428					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)	GATAAACTCCGCTTCCGGCAG	0.458000														71			19		0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537827	64537827	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64537827C>T	uc001obb.2	-	3	742	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.R71Q|SF1_uc001oaz.2_Missense_Mutation_p.R222Q|SF1_uc001oba.2_Missense_Mutation_p.R97Q|SF1_uc001obd.2_Missense_Mutation_p.R97Q|SF1_uc001obc.2_Missense_Mutation_p.R97Q|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	97					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCGGAACTCTCGGGTGTTAAG	0.537000														212			20		0	0	1	0	0
SNAI3	333929	broad.mit.edu	37	16	88747821	88747821	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:88747821C>T	uc002flj.3	-	1	446	c.378G>A	c.(376-378)ccG>ccA	p.P126P	MGC23284_uc002fli.4_Intron	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN	Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA.	126					oxidation-reduction process		DNA binding|copper ion binding|zinc ion binding			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		GGCCCAAGGTCGGGGACCACC	0.677000														381			23		0	0	1	0	0
HTR6	3362	broad.mit.edu	37	1	19992447	19992447	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:19992447G>A	uc001bcl.3	+	0	668	c.201G>A	c.(199-201)tcG>tcA	p.S67S		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding	p.S67L(1)		endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TCCTGGTGTCGCTCTTCACGT	0.682000														104			14		0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30021360	30021360	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30021360C>T	uc002dvn.3	-	1	375	c.184G>A	c.(184-186)Gcc>Acc	p.A62T	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Intron|DOC2A_uc002dvo.3_Missense_Mutation_p.A62T|DOC2A_uc002dvp.3_Missense_Mutation_p.A62T|DOC2A_uc002dvq.3_Missense_Mutation_p.A62T	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	62	Interaction with UNC13D and DYNLT1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						GCAGGGGGGGCCAGAGCCAGG	0.706000														128			30		0	0	1	0	0
GBP1	2633	broad.mit.edu	37	1	89525106	89525106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89525106C>T	uc001dmx.2	-	3	542	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	108					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TTCTGGTTGTCACCCTGGAAG	0.483000														151			19		0	0	1	0	0
DRGX	644168	broad.mit.edu	37	10	50574348	50574348	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:50574348C>T	uc010qgq.2	-	5	620	c.620G>A	c.(619-621)cGc>cAc	p.R207H	DRGX_uc021pqd.1_Missense_Mutation_p.R202H	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	207					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCTGGCCGTGCGGTTACTCTG	0.637000														166			46		0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57957180	57957180	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:57957180G>T	uc002emt.2	-	17	1705	c.1640C>A	c.(1639-1641)aCt>aAt	p.T547N	CNGB1_uc010cdh.2_Missense_Mutation_p.T541N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	547					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTCACTCAGTGTCCTTCGG	0.582000														85			15		2.31682e-05	2.42268e-05	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149939428	149939428	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149939428C>T	uc001etn.3	-	3	649	c.293G>A	c.(292-294)gGc>gAc	p.G98D	OTUD7B_uc001eto.3_Intron	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	98					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GTGGGAGATGCCCCTAGACAG	0.552000														119			24		0	0	1	0	0
STOML3	161003	broad.mit.edu	37	13	39541021	39541021	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39541021G>A	uc001uwx.3	-	6	955	c.817C>T	c.(817-819)Cta>Tta	p.L273L	STOML3_uc010tez.2_Silent_p.L264L	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	273						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		ATGCCCTCTAGTATATTCATG	0.498000														121			18		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7660422	7660422	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7660422C>T	uc002giu.1	+	11	1932	c.1918C>T	c.(1918-1920)Ctc>Ttc	p.L640F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	640	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L640L(1)		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)				CCTTCTGATTCTCTTTGCGGA	0.567000														433			102		0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169524465	169524465	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169524465T>G	uc001ggg.1	-	6	1218	c.1073A>C	c.(1072-1074)gAa>gCa	p.E358A	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	358	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCAAATGACTTCCTCTGCAGC	0.448000														170			37		0	0	1	0	0
RORB	6096	broad.mit.edu	37	9	77245232	77245232	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:77245232C>T	uc004aji.3	+	1	124	c.75C>T	c.(73-75)ggC>ggT	p.G25G	RORB_uc004ajh.3_Silent_p.G14G	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	25					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AAATTTGTGGCGATAAGTCCT	0.428000														87			15		0	0	1	0	0
DBN1	1627	broad.mit.edu	37	5	176885542	176885542	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176885542G>A	uc003mgx.2	-	12	1581	c.1299C>T	c.(1297-1299)gtC>gtT	p.V433V	DBN1_uc011dga.1_Silent_p.V163V|DBN1_uc003mgy.2_Silent_p.V431V|DBN1_uc010jkn.1_Silent_p.V381V|DBN1_uc003mgz.1_Silent_p.V414V	NM_080881	NP_543157	Q16643	DREB_HUMAN	Homo sapiens drebrin 1 (DBN1), transcript variant 2, mRNA.	431					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCAGCCAGGACAGCCTGCT	0.647000														171			28		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17466758	17466758	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17466758G>T	uc003zmz.2	+	22	3747	c.3721G>T	c.(3721-3723)Gca>Tca	p.A1241S	CNTLN_uc003zmy.3_Missense_Mutation_p.A1242S|CNTLN_uc010mio.3_Missense_Mutation_p.A921S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1242						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		ATCTGCAATGGCAGAAATTGA	0.378000														67			14		1.5842e-08	1.73923e-08	1	1	0
GDPD5	81544	broad.mit.edu	37	11	75153439	75153439	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:75153439G>T	uc001owo.4	-	12	1673	c.1136C>A	c.(1135-1137)gCc>gAc	p.A379D	GDPD5_uc001owp.4_Missense_Mutation_p.A379D|GDPD5_uc001own.4_Missense_Mutation_p.A134D|GDPD5_uc009yuc.3_Missense_Mutation_p.A241D|GDPD5_uc009yud.3_Missense_Mutation_p.A260D	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	379	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTGCAGCACGGCCTCCAGAGT	0.672000														18			7		0.00198382	0.00202356	1	1	0
IL1RAP	3556	broad.mit.edu	37	3	190326890	190326890	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:190326890T>C	uc010hzg.2	+	5	878	c.457T>C	c.(457-459)Tat>Cat	p.Y153H	IL1RAP_uc003fsk.3_Missense_Mutation_p.Y153H|IL1RAP_uc003fsl.3_Missense_Mutation_p.Y153H|IL1RAP_uc003fsm.2_Missense_Mutation_p.Y153H|IL1RAP_uc003fso.2_Missense_Mutation_p.Y153H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.Y153H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	153	Ig-like C2-type 2.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		GTATATAGAATATGGCATTCA	0.378000														102			23		0	0	1	0	0
ALAS2	212	broad.mit.edu	37	X	55035746	55035746	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:55035746C>T	uc004dua.4	-	10	1769	c.1631G>A	c.(1630-1632)gGg>gAg	p.G544E	ALAS2_uc004dub.4_Missense_Mutation_p.G531E|ALAS2_uc004dud.4_Missense_Mutation_p.G507E	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	544					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	GAGGGGCAGCCCCACCGCAGT	0.547000														21			8		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127806713	127806713	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127806713G>A	uc001ljk.2	-	5	919	c.506C>T	c.(505-507)gCg>gTg	p.A169V	ADAM12_uc010qul.1_Missense_Mutation_p.A166V|ADAM12_uc001ljm.3_Missense_Mutation_p.A169V|ADAM12_uc001ljn.3_Missense_Mutation_p.A166V|ADAM12_uc001ljl.4_Missense_Mutation_p.A166V	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	169					cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.P168T(1)		biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CAGCTTCTTCGCTGGGAAGAG	0.438000														136			20		0	0	1	0	0
CREB3L2	64764	broad.mit.edu	37	7	137565285	137565285	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:137565285T>G	uc003vtw.3	-	11	1896	c.1500A>C	c.(1498-1500)aaA>aaC	p.K500N	CREB3L2_uc003vtv.3_Missense_Mutation_p.K437N	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	500					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						TCCCCTCCAGTTTGGCGCTGA	0.453000			T	FUS	fibromyxoid sarcoma									44			6		0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78651348	78651348	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:78651348C>T	uc001jxn.3	-	25	3454	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	KCNMA1_uc021ptu.1_Missense_Mutation_p.A985T|KCNMA1_uc001jxj.2_Missense_Mutation_p.A1039T|KCNMA1_uc001jxk.1_Missense_Mutation_p.A711T|KCNMA1_uc009xrt.1_Missense_Mutation_p.A884T|KCNMA1_uc001jxl.1_Missense_Mutation_p.A718T|KCNMA1_uc001jxo.3_Missense_Mutation_p.A1076T|KCNMA1_uc001jxm.3_Missense_Mutation_p.A1035T|KCNMA1_uc001jxq.3_Missense_Mutation_p.A1065T|BC030624_uc001jxp.3_Intron	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1093					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	p.Q1092K(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TCCCTATTGGCCAGTGTCTGC	0.627000														101			13		0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13699307	13699307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699307G>A	uc001ims.3	-	21	2634	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	FRMD4A_uc009xjf.1_Missense_Mutation_p.P761L	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	761						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CATCTGCGCCGGGTAGTAGTG	0.692000														47			7		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755667	91755667	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:91755667G>T	uc010aty.3	-	24	4377	c.4223C>A	c.(4222-4224)gCc>gAc	p.A1408D		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1408					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TAAGGCTTTGGCTCCAATCCA	0.537000														366			79		1.43161e-34	1.81166e-34	1	1	0
NMT2	9397	broad.mit.edu	37	10	15161458	15161458	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:15161458G>A	uc001inz.1	-	8	1138	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	NMT2_uc001ioa.1_Nonsense_Mutation_p.R339*|NMT2_uc010qbz.1_Nonsense_Mutation_p.R164*	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	352					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ATTAATTCTCGAACTGATTTG	0.433000														99			28		0	0	1	0	0
HS3ST2	9956	broad.mit.edu	37	16	22926592	22926592	+	Silent	SNP	C	T	T	rs144169281		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:22926592C>T	uc002dli.3	+	1	885	c.813C>T	c.(811-813)ttC>ttT	p.F271F		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	271						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		AGATTCACTTCGTCAGTGGCG	0.582000														368			102		0	0	1	0	0
KLHL38	340359	broad.mit.edu	37	8	124665022	124665022	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:124665022G>A	uc003yqs.1	-	0	169	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	49	BTB.							p.R49H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						AGCACGTTGCGGTGGCAGGGG	0.572000														138			30		0	0	1	0	0
SPDYE3	441272	broad.mit.edu	37	7	99909548	99909548	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:99909548G>A	uc022aij.1	+	3	904	c.720G>A	c.(718-720)tcG>tcA	p.S240S		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	Homo sapiens speedy homolog E3 (Xenopus laevis) (SPDYE3), mRNA.	240										endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						GGCGAGTGTCGCTCGTGCTCC	0.572000														98			25		0	0	1	0	0
VGLL2	245806	broad.mit.edu	37	6	117586967	117586967	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:117586967C>T	uc003pxn.3	+	0	247	c.41C>T	c.(40-42)cCg>cTg	p.P14L	VGLL2_uc003pxo.3_Missense_Mutation_p.P14L	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	14					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TATGGTCCTCCGCAGCCCTAC	0.582000														83			11		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98750327	98750327	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98750327C>A	uc002syo.3	+	6	1177	c.913C>A	c.(913-915)Cct>Act	p.P305T	VWA3B_uc010yvh.2_Missense_Mutation_p.P155T|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Missense_Mutation_p.P305T|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	305								p.P305S(2)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAGAATTTCCTGCATTCTC	0.458000														282			55		8.18108e-13	9.47949e-13	1	1	0
ITPR3	3710	broad.mit.edu	37	6	33626894	33626894	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33626894G>T	uc021ywr.1	+	5	849	c.625G>T	c.(625-627)Gag>Tag	p.E209*		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	209	MIR 2.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CGGCTGCAAGGAGGTGAGGGG	0.642000														153			8		5.18039e-06	5.47662e-06	1	1	0
MED29	55588	broad.mit.edu	37	19	39884197	39884197	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39884197A>G	uc002olf.3	+	2	380	c.343A>G	c.(343-345)Agc>Ggc	p.S115G	PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Non-coding_Transcript	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Homo sapiens mediator complex subunit 29 (MED29), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGTAGAAAGAGCAGTGATGG	0.473000														258			43		0	0	1	0	0
CDC16	8881	broad.mit.edu	37	13	115002285	115002285	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:115002285G>T	uc001vuk.1	+	2	313	c.115G>T	c.(115-117)Gac>Tac	p.D39Y	CDC16_uc010tkm.1_Missense_Mutation_p.D39Y|CDC16_uc001vul.1_Missense_Mutation_p.D39Y|CDC16_uc001vum.1_5'UTR|CDC16_uc001vun.1_Missense_Mutation_p.D38Y|CDC16_uc001vuo.1_Missense_Mutation_p.D38Y	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			AGAACCCCAGGACATCTATTG	0.413000														152			27		2.65835e-16	3.16856e-16	1	1	0
RNF215	200312	broad.mit.edu	37	22	30782666	30782666	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30782666T>C	uc003ahp.3	-	1	368	c.368A>G	c.(367-369)cAg>cGg	p.Q123R	RNF215_uc011akw.2_Missense_Mutation_p.Q28R	NM_001017981	NP_001017981	Q9Y6U7	RN215_HUMAN	Homo sapiens ring finger protein 215 (RNF215), mRNA.	123						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						CTGGTGGAACTGGGCCGCCTG	0.637000														122			34		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49378030	49378030	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:49378030C>T	uc002pky.4	+	1	1809	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	514	Interaction with MLL.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.P514S(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CATCTATGTACCTGGAGAGAA	0.622000														157			29		0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61145657	61145657	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:61145657G>A	uc002sam.1	+	6	993	c.769G>A	c.(769-771)Gta>Ata	p.V257I	REL_uc002san.1_Missense_Mutation_p.V257I	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	257	RHD.				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			CACAGAACCCGTAACAGTAAA	0.408000			A		Hodgkin Lymphoma									117			49		0	0	1	0	0
CFB	629	broad.mit.edu	37	6	31895572	31895572	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31895572C>A	uc011dor.2	+	0	307	c.43C>A	c.(43-45)Cca>Aca	p.P15T	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.P15T|CFB_uc003nyf.3_Missense_Mutation_p.P15T|CFB_uc010jtk.3_Missense_Mutation_p.P15T|CFB_uc011doq.2_5'UTR	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	0					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTTCCTGTACCCAGGTAGGAG	0.567000														346			71		1.356e-25	1.69088e-25	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204429749	204429749	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204429749G>A	uc001haw.3	-	6	1830	c.1351C>T	c.(1351-1353)Cgc>Tgc	p.R451C	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R451C|PIK3C2B_uc001hax.1_Missense_Mutation_p.R451C|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	451					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.R451C(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TCAAACTTGCGGCAGTATTGG	0.562000														123			26		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182847247	182847247	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182847247C>T	uc001gpr.3	+	19	2465	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	DHX9_uc001gps.3_Nonsense_Mutation_p.R550*|DHX9_uc001gpt.3_Nonsense_Mutation_p.R43*	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	764	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						ACGGAAAGGGCGAGCTGGCCG	0.473000														110			20		0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4099233	4099233	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4099233C>T	uc002lzk.3	-	6	1139	c.885G>A	c.(883-885)tcG>tcA	p.S295S	MAP2K2_uc002lzj.3_Silent_p.S105S	NM_030662	NP_109587	P36507	MP2K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 2 (MAP2K2), mRNA.	295	Pro-rich.|Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGCCGAGGCGAGATGCTGT	0.706000														32			9		0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39864744	39864744	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:39864744C>A	uc003oow.3	+	19	2637	c.2498C>A	c.(2497-2499)tCc>tAc	p.S833Y	DAAM2_uc003oox.3_Missense_Mutation_p.S833Y	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	833	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACACCAAGTCCAGCATCGAC	0.592000														76			21		4.35082e-09	4.81328e-09	1	1	0
ZMAT1	84460	broad.mit.edu	37	X	101152901	101152901	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:101152901G>T	uc011mrl.2	-	4	795	c.445C>A	c.(445-447)Ctg>Atg	p.L149M	ZMAT1_uc004ein.3_5'UTR|ZMAT1_uc011mrm.2_5'UTR	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	446						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						AATTGCTTCAGTTTTTTAGCA	0.413000														83			29		1.17739e-12	1.36172e-12	1	1	0
KLHL10	317719	broad.mit.edu	37	17	39998252	39998252	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:39998252C>T	uc010cxr.3	+	1	514	c.372C>T	c.(370-372)atC>atT	p.I124I	KLHL10_uc010wfv.1_Silent_p.I118I|KLHL10_uc010wfw.2_Silent_p.I36I	NM_152467	NP_689680	Q6JEL2	KLH10_HUMAN	Homo sapiens kelch-like 10 (Drosophila) (KLHL10), mRNA.	124						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TCATGGGTATCGTCAGGGGTT	0.498000														118			30		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78804038	78804038	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:78804038C>T	uc004akc.2	+	18	2947	c.2409C>T	c.(2407-2409)tgC>tgT	p.C803C	PCSK5_uc004ajz.3_Silent_p.C803C|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.C77C	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	803	CRM (Cys-rich motif).				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						GCATTAACTGCACAGAGGGCT	0.458000														87			23		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74005791	74005791	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74005791C>A	uc010wss.1	-	21	3789	c.3561G>T	c.(3559-3561)aaG>aaT	p.K1187N	EVPL_uc002jqi.2_Missense_Mutation_p.K1165N|EVPL_uc010wst.1_Missense_Mutation_p.K635N	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1165	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGTCGCGTTCTTGGTCCTCT	0.632000														127			31		1.39806e-14	1.64448e-14	1	1	0
FBL	2091	broad.mit.edu	37	19	40331285	40331285	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:40331285G>A	uc002omn.3	-	1	267	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FBL_uc002omm.1_5'Flank|FBL_uc002omo.2_Silent_p.G51G|FBL_uc010egr.3_Silent_p.G51G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	51	DMA/Gly-rich.				rRNA processing|tRNA processing	Cajal body|box C/D snoRNP complex	RNA binding|methyltransferase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		caccgccgccgccgcctccac	0.662000														56			22		0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617678	37617678	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:37617678G>A	uc002yvg.3	+	18	3479	c.3400G>A	c.(3400-3402)Gac>Aac	p.D1134N	DOPEY2_uc011aeb.2_Missense_Mutation_p.D1083N|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1134					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCTTCCCACGACCTGCAGGA	0.662000														150			42		0	0	1	0	0
PHKG1	5260	broad.mit.edu	37	7	56155329	56155329	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:56155329A>G	uc011kdb.1	-	2	419	c.224T>C	c.(223-225)gTg>gCg	p.V75A	PSPH_uc003trj.3_Intron|PHKG1_uc003trz.1_Missense_Mutation_p.V75A|PHKG1_uc011kdc.1_Missense_Mutation_p.V75A|PHKG1_uc011kdd.1_Silent_p.G39G	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	75	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGGATGTCCACCTCCTTCAG	0.647000														78			15		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35993429	35993429	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:35993429G>A	uc004ddj.3	+	13	2486	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	807										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						CCTACATCCAGTACTTATATT	0.333000														74			17		0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65416912	65416912	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65416912C>A	uc001ofb.2	+	9	2653	c.2486C>A	c.(2485-2487)aCt>aAt	p.T829N	SIPA1_uc010rom.1_Missense_Mutation_p.T727N|SIPA1_uc001ofd.2_Missense_Mutation_p.T829N	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	829					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GAGGAGAGGACTGAGTTCCTG	0.632000														39			11		1.08611e-07	1.17606e-07	1	1	0
SMYD4	114826	broad.mit.edu	37	17	1686706	1686706	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:1686706G>A	uc002ftm.4	-	8	2253	c.2085C>T	c.(2083-2085)caC>caT	p.H695H	SMYD4_uc002ftn.1_Silent_p.H550H	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	695							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCACCACGGCGTGCTCTGCCC	0.622000														77			19		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107283063	107283063	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107283063C>T	uc021ser.1	-	0		c.23G>A								Parts of antibodies, mostly variable regions.																		CACCTCATGGCCAGACTGCAC	0.582000														255			55		0	0	1	0	0
NOA1	84273	broad.mit.edu	37	4	57843518	57843518	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57843518G>T	uc003hck.3	-	0	309	c.234C>A	c.(232-234)atC>atA	p.I78I	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	Homo sapiens nitric oxide associated 1 (NOA1), mRNA.	78							GTP binding										CCGGATCCAGGATGTACTCCG	0.627000														128			28		3.80469e-20	4.63894e-20	1	1	0
NDP	4693	broad.mit.edu	37	X	43817734	43817734	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:43817734T>C	uc004dga.3	-	1	737	c.158A>G	c.(157-159)tAc>tGc	p.Y53C		NM_000266	NP_000257	Q00604	NDP_HUMAN	Homo sapiens Norrie disease (pseudoglioma) (NDP), mRNA.	53	CTCK.				canonical Wnt receptor signaling pathway|cell proliferation|cell-cell signaling|nervous system development|positive regulation of transcription, DNA-dependent|sensory perception of sound|vacuole organization|visual perception	extracellular matrix|extracellular space	cell surface binding|frizzled binding|growth factor activity|protein homodimerization activity			kidney(1)|lung(2)	3						GCTACACTTGTACAATGGGTG	0.473000														121			35		0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37286131	37286131	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37286131C>T	uc002rpp.1	-	13	1946	c.1850_splice	c.e13-1	p.A617_splice		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	617							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTCCTCATGGCTAGATAAAAT	0.328000														52			4		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111379299	111379299	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:111379299G>A	uc003vfy.3	-	50	5500	c.5231_splice	c.e50-1	p.A1744_splice	DOCK4_uc011kml.2_Splice_Site_p.A580_splice|DOCK4_uc011kmm.2_Splice_Site_p.A606_splice|DOCK4_uc003vfw.3_Splice_Site_p.A1149_splice|DOCK4_uc003vfx.3_Splice_Site_p.A1699_splice|DOCK4_uc003vfv.3_Missense_Mutation_p.A12V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1699	Ser-rich.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CAAAGGAGAAGCTGGGAAGAG	0.527000														90			13		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019923	129019923	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:129019923G>A	uc003kvb.1	+	17	2757	c.2757G>A	c.(2755-2757)tgG>tgA	p.W919*	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	919	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCATGTGGACACACACAA	0.423000														87			24		0	0	1	0	0
ATR	545	broad.mit.edu	37	3	142269047	142269047	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142269047C>A	uc003eux.4	-	13	3025	c.2903G>T	c.(2902-2904)aGa>aTa	p.R968I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	968					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGCCATTTCTCTCTGGTGAGC	0.403000								Other conserved DNA damage response genes						105			24		6.44725e-10	7.21145e-10	1	1	0
CERS2	29956	broad.mit.edu	37	1	150940918	150940918	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:150940918C>T	uc001evy.3	-	2	670	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	CERS2_uc001evz.3_Missense_Mutation_p.A82T|CERS2_uc009wmh.3_5'UTR	NM_181746	NP_859530	Q96G23	CERS2_HUMAN	Homo sapiens ceramide synthase 2 (CERS2), transcript variant 1, mRNA.	82						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity										TCCAAGGTGGCGTTGGGAGGT	0.557000														96			22		0	0	1	0	0
POLG	5428	broad.mit.edu	37	15	89872175	89872175	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89872175G>A	uc002bns.4	-	4	1305	c.1023_splice	c.e4+1	p.A341_splice	POLG_uc002bnr.4_Splice_Site_p.A341_splice	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	341					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGCTCTCACCGCTGGGCCTCT	0.632000								DNA polymerases (catalytic subunits)						100			22		0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21224631	21224631	+	Missense_Mutation	SNP	G	A	A	rs146502130	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21224631G>A	uc011ahw.2	+	1	351	c.244G>A	c.(244-246)Gcc>Acc	p.A82T		NM_004782	NP_004773	O95721	SNP29_HUMAN	Homo sapiens synaptosomal-associated protein, 29kDa (SNAP29), mRNA.	82					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CCAGGAGCTCGCCCGTCAGCG	0.532000														124			21		0	0	1	0	0
MCM8	84515	broad.mit.edu	37	20	5966674	5966674	+	Missense_Mutation	SNP	G	A	A	rs149433613	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:5966674G>A	uc002wmk.3	+	15	2557	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	MCM8_uc002wmi.3_Missense_Mutation_p.R687Q|MCM8_uc002wmj.3_Missense_Mutation_p.R671Q|MCM8_uc002wml.3_Missense_Mutation_p.R687Q|MCM8_uc010gbp.3_Missense_Mutation_p.R640Q|MCM8_uc002wmm.3_Missense_Mutation_p.R225Q	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN	Homo sapiens minichromosome maintenance complex component 8 (MCM8), transcript variant 1, mRNA.	687					DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GAAGCTGCTCGAGTTCTTCAA	0.468000														124			21		0	0	1	0	0
ZNF765	91661	broad.mit.edu	37	19	53912333	53912333	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53912333C>A	uc010ydx.2	+	5	1852	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I	ZNF765_uc002qbm.3_Missense_Mutation_p.L509I|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	509					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)		CAAATCAAACCTTGAAAGACA	0.408000														54			14		0.000151284	0.000156809	1	1	0
RBM48	84060	broad.mit.edu	37	7	92163909	92163909	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92163909C>T	uc003uma.3	+	3	683	c.642C>T	c.(640-642)tcC>tcT	p.S214S	RBM48_uc011khu.1_3'UTR|RBM48_uc003ulz.3_Silent_p.S214S			Q5RL73	CG064_HUMAN	Homo sapiens RNA binding motif protein 48 (RBM48), mRNA.	214							nucleotide binding										TGTGTTCATCCGGGGGACCTG	0.423000														81			12		0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	373509	373509	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:373509C>T	uc001lpb.3	+	6	706	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	233						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCAAGCCCAGGCGGTG	0.622000														203			27		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70239029	70239029	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:70239029G>A	uc003tvw.4	+	11	2581	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	AUTS2_uc003tvx.4_Intron|AUTS2_uc011keg.2_Missense_Mutation_p.D68N	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	616								p.I615I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAACCCTATCGATGTCGCTGC	0.488000														88			22		0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21478500	21478500	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:21478500G>T	uc003cce.3	-	4	1043	c.635C>A	c.(634-636)gCt>gAt	p.A212D	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	212						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGAGTTGACAGCAACCTTGCA	0.473000														161			27		4.59853e-10	5.14677e-10	1	1	0
RAVER2	55225	broad.mit.edu	37	1	65268680	65268680	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:65268680G>T	uc001dbt.2	+	3	811	c.764G>T	c.(763-765)aGc>aTc	p.S255I	RAVER2_uc001dbs.2_Missense_Mutation_p.S376I|RAVER2_uc010opb.2_Missense_Mutation_p.S255I	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	376	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACACCTCACAGCTTGCCACAT	0.308000														87			10		2.17888e-05	2.28139e-05	1	1	0
ACTA1	58	broad.mit.edu	37	1	229568761	229568761	+	Silent	SNP	C	T	T	rs147303135		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:229568761C>T	uc001htm.3	-	1	207	c.102G>A	c.(100-102)ccG>ccA	p.P34P		NM_001100	NP_001091	P68133	ACTS_HUMAN	Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	34					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	CCACGATGGACGGGAACACGG	0.721000														147			61		0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11384997	11384997	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:11384997G>A	uc003jfa.1	-	6	1102	c.957C>T	c.(955-957)atC>atT	p.I319I	CTNND2_uc010itt.2_Silent_p.I228I|CTNND2_uc011cmy.1_Intron|CTNND2_uc011cmz.1_Intron|CTNND2_uc010itu.1_Intron|CTNND2_uc011cmx.1_5'UTR	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	319					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AGGACACGACGATGTTGATGG	0.716000														47			13		0	0	1	0	0
C1orf111	284680	broad.mit.edu	37	1	162344026	162344026	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162344026T>G	uc001gbx.2	-	2	662	c.598A>C	c.(598-600)Agc>Cgc	p.S200R		NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	Homo sapiens chromosome 1 open reading frame 111 (C1orf111), mRNA.	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			TTGATGTGGCTCTTGAGGAAG	0.602000														302			99		0	0	1	0	0
GLIPR2	152007	broad.mit.edu	37	9	36148567	36148567	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:36148567C>A	uc003zyz.3	+	2	180	c.146C>A	c.(145-147)aCg>aAg	p.T49K	GLIPR2_uc011lpj.1_Missense_Mutation_p.T49K|GLIPR2_uc010mlf.1_Missense_Mutation_p.T49K|GLIPR2_uc003zyy.1_Missense_Mutation_p.T49K|GLIPR2_uc003zza.3_Non-coding_Transcript	NM_022343	NP_071738	Q9H4G4	GAPR1_HUMAN	Homo sapiens GLI pathogenesis-related 2 (GLIPR2), mRNA.	49						Golgi membrane|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(3)	10						CTGGCCAGCACGAGGATCCTC	0.592000														72			7		0.27861	0.278893	1	1	0
SCN7A	6332	broad.mit.edu	37	2	167288898	167288898	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167288898C>T	uc002udu.2	-	14	2652	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	841					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						ATCAGATTCTCCTGAAGCAAT	0.398000														119			25		0	0	1	0	0
PLD5	200150	broad.mit.edu	37	1	242253373	242253373	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:242253373G>T	uc001hzn.2	-	10	1621	c.1394C>A	c.(1393-1395)gCt>gAt	p.A465D	PLD5_uc021pll.1_Missense_Mutation_p.A373D|PLD5_uc001hzl.4_Missense_Mutation_p.A403D|PLD5_uc001hzm.4_Missense_Mutation_p.A257D|PLD5_uc001hzo.2_Missense_Mutation_p.A373D	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	465						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GCCCGTGCCAGCATTCTGAGT	0.408000														176			33		2.46105e-21	3.01812e-21	1	1	0
THOC2	57187	broad.mit.edu	37	X	122829989	122829989	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:122829989T>C	uc004etu.3	-	6	515	c.483A>G	c.(481-483)aaA>aaG	p.K161K	THOC2_uc011muh.1_Silent_p.K82K|THOC2_uc011mui.1_Silent_p.K46K	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	161					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						ACAAATTGAATTTTTGCTGCT	0.299000														43			7		0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151175110	151175110	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:151175110A>C	uc003lun.3	+	5	684	c.513A>C	c.(511-513)ggA>ggC	p.G171G	G3BP1_uc003lum.3_Silent_p.G171G|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR|G3BP1_uc003luq.3_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	171	Glu-rich.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|RNA binding|endonuclease activity|protein binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			ATGATTCTGGAACTTTCTATG	0.408000														107			24		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140735709	140735709	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140735709C>T	uc003ljq.2	+	0	942	c.942C>T	c.(940-942)ttC>ttT	p.F314F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.F314F	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	315	Cadherin 3.				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)			ACTCTGGATTCTATGACATAG	0.438000														29			8		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139405693	139405693	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139405693C>T	uc004chz.3	-	15	2498	c.2498G>A	c.(2497-2499)tGt>tAt	p.C833Y	NOTCH1_uc004cia.1_Missense_Mutation_p.C63Y	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	833	EGF-like 22.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGGGGCACACGGGGCCAG	0.672000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				81			13		0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72923852	72923852	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72923852G>A	uc010wrp.2	+	4	694	c.602G>A	c.(601-603)aGt>aAt	p.S201N	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	201						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TCCTACAGCAGTTCTCACAGC	0.582000														47			17		0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33170375	33170375	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33170375G>T	uc003odf.3	+	5	955	c.838G>T	c.(838-840)Gaa>Taa	p.E280*	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Nonsense_Mutation_p.E280*|SLC39A7_uc011dqv.2_Nonsense_Mutation_p.E155*|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	280			E -> G (in dbSNP:rs1048778).			endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						AGAGGAAGAAGAAAAGGAAAC	0.502000														84			20		1.01871e-10	1.15017e-10	1	1	0
TSPAN10	83882	broad.mit.edu	37	17	79612579	79612579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79612579C>T	uc010die.3	+	1	704	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	TSPAN10_uc021ufc.1_Missense_Mutation_p.R238C|TSPAN10_uc002kaw.2_Missense_Mutation_p.R200C|TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	200						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CCCAGACCTGCGCTTCCTCCT	0.682000														44			8		0	0	1	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656830	130656830	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130656830C>T	uc004bsp.1	-	3	377	c.258G>A	c.(256-258)tgG>tgA	p.W86*	ST6GALNAC6_uc004bsn.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_uc011man.1_Missense_Mutation_p.G22E|ST6GALNAC6_uc004bso.1_Nonsense_Mutation_p.W86*|ST6GALNAC6_uc004bsq.1_Nonsense_Mutation_p.W52*|ST6GALNAC6_uc004bsr.2_Nonsense_Mutation_p.W52*|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	86					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGTGATGCTCCACTTCTTGA	0.592000														220			45		0	0	1	0	0
MBNL2	10150	broad.mit.edu	37	13	97928576	97928576	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:97928576C>T	uc010aft.3	+	1	903	c.87C>T	c.(85-87)cgC>cgT	p.R29R	MBNL2_uc001vmz.3_Silent_p.R29R|MBNL2_uc001vna.3_Silent_p.R29R|MBNL2_uc001vnb.3_Non-coding_Transcript|MBNL2_uc010tij.2_Silent_p.R29R	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	Homo sapiens muscleblind-like 2 (Drosophila) (MBNL2), transcript variant 1, mRNA.	29					RNA splicing|mRNA processing|regulation of RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)			CATGCTCACGCTCTGATGAAG	0.423000														167			31		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139568	178139568	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:178139568A>C	uc003mjj.3	-	4	1509	c.1311T>G	c.(1309-1311)ttT>ttG	p.F437L		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	437				F -> Y (in Ref. 1; BAA25182).	regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TACAATTATAAAACTTCTCTC	0.363000														120			28		0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442595	138442595	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:138442595G>A	uc003ihe.4	-	3	3383	c.2996C>T	c.(2995-2997)aCc>aTc	p.T999I	PCDH18_uc003ihf.4_Missense_Mutation_p.T991I|PCDH18_uc011cgz.2_Missense_Mutation_p.T210I|PCDH18_uc003ihg.4_Missense_Mutation_p.T778I|PCDH18_uc011cha.2_Missense_Mutation_p.T179I	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	999	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGATGTGCTGGTATCCCCAGT	0.517000														126			29		0	0	1	0	0
SYT3	84258	broad.mit.edu	37	19	51133064	51133064	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:51133064G>A	uc002pst.3	-	2	1673	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	SYT3_uc002psv.3_Missense_Mutation_p.R347C|SYT3_uc010ycd.2_Missense_Mutation_p.R347C	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA.	347	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TTTTTCTTGCGGTCAGGCAGC	0.622000														198			50		0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113237091	113237091	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:113237091T>G	uc003ynu.3	-	70	11192	c.11033A>C	c.(11032-11034)gAa>gCa	p.E3678A	CSMD3_uc003yns.3_Missense_Mutation_p.E2880A|CSMD3_uc003ynt.3_Missense_Mutation_p.E3638A|CSMD3_uc011lhx.2_Missense_Mutation_p.E3509A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3678						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATGGGATTTTCAAAAGCTGC	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				182			34		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139412240	139412240	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139412240C>A	uc004chz.3	-	7	1405	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	469	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.D469N(3)|p.D469G(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAATCTGGTCCAGGCAGGTG	0.677000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				189			45		1.89013e-27	2.36805e-27	1	1	0
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216256823T>G	uc001hku.1	-	25	5660	c.5273A>C	c.(5272-5274)aAc>aCc	p.N1758T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758T(2)|p.N1758N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303000										HNSCC(13;0.011)				104			39		0	0	1	0	0
EPHB4	2050	broad.mit.edu	37	7	100404160	100404160	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100404160G>A	uc003uwn.1	-	13	2857	c.2366C>T	c.(2365-2367)cCg>cTg	p.P789L	EPHB4_uc003uwm.1_Missense_Mutation_p.P696L|EPHB4_uc010lhj.1_Missense_Mutation_p.P789L	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	789	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.P789L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AATGGCCTCCGGGGCAGTCCA	0.577000														164			29		0	0	1	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985670	34985670	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:34985670C>A	uc003ojx.4	+	10	1986	c.1844C>A	c.(1843-1845)gCt>gAt	p.A615D	ANKS1A_uc011dst.2_Missense_Mutation_p.A155D|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	615						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAACCCAAAGCTGAACTCAAA	0.582000														417			90		3.24273e-39	4.1206e-39	1	1	0
SOX30	11063	broad.mit.edu	37	5	157073693	157073693	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:157073693A>G	uc003lxb.1	-	2	1681	c.1339T>C	c.(1339-1341)Tac>Cac	p.Y447H	SOX30_uc003lxc.1_Missense_Mutation_p.Y447H|SOX30_uc011dds.1_Missense_Mutation_p.Y142H	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	447					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCACAGAGTACGTAGGTGAG	0.368000														139			28		0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114110	147114110	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:147114110C>T	uc011bno.2	-	2	553	c.367G>A	c.(367-369)Gcg>Acg	p.A123T	ZIC4_uc003ewc.2_Missense_Mutation_p.A3T|ZIC4_uc021xff.1_Missense_Mutation_p.A111T|ZIC4_uc003ewd.2_Missense_Mutation_p.A73T|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	73						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TCCGGCCGCGCGTACATGTCT	0.716000														45			14		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216595582	216595582	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216595582A>G	uc001hku.1	-	1	484	c.97T>C	c.(97-99)Tca>Cca	p.S33P	USH2A_uc001hkv.3_Missense_Mutation_p.S33P	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	33					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)		AGACCTCGTGACTCAGTCAAG	0.453000										HNSCC(13;0.011)				114			19		0	0	1	0	0
DGCR6	8214	broad.mit.edu	37	22	18898435	18898435	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18898435C>T	uc002zoh.4	+	3	559	c.407C>T	c.(406-408)gCg>gTg	p.A136V	DGCR6_uc002zog.3_Non-coding_Transcript|DGCR6_uc002zoi.4_Non-coding_Transcript	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 6 (DGCR6), mRNA.	136					cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						GAGCAGCGGGCGATGGACCAG	0.677000														97			11		0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	43936061	43936061	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:43936061G>A	uc003bdy.2	-	27	4139	c.3825C>T	c.(3823-3825)ctC>ctT	p.L1275L	EFCAB6_uc003bdz.2_Silent_p.L1123L|EFCAB6_uc010gzi.2_Silent_p.L1123L|EFCAB6_uc010gzj.1_3'UTR	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGGGCAATGAGAGGGCAGATC	0.622000														139			22		0	0	1	0	0
GZMK	3003	broad.mit.edu	37	5	54327211	54327211	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:54327211T>G	uc003jpl.1	+	3	427	c.383T>G	c.(382-384)cTc>cGc	p.L128R		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	128	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				GCCGCAAAACTCAATAAACAT	0.438000														109			20		0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686881	54686881	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:54686881T>C	uc009znk.3	-	1	909	c.399A>G	c.(397-399)gcA>gcG	p.A133A	NFE2_uc001sfq.3_Silent_p.A133A|NFE2_uc001sfr.4_Silent_p.A133A|NFE2_uc009znl.3_Silent_p.A133A	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	133	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						TAGGTGGCCCTGCTGGCAGCC	0.582000														282			55		0	0	1	0	0
COLEC12	81035	broad.mit.edu	37	18	335176	335176	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:335176C>T	uc002kkm.3	-	5	1597	c.1382G>A	c.(1381-1383)gGc>gAc	p.G461D		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	461	Collagen-like 1.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCCAGTTGGGCCAGGGGGTCC	0.592000														134			25		0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178415760	178415760	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:178415760G>A	uc002uln.3	-	0	1765	c.1732C>T	c.(1732-1734)Ctg>Ttg	p.L578L	TTC30B_uc010zfc.1_Silent_p.L350L	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	578					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TCTGTTCCCAGCTTTTTGTTG	0.368000														225			77		0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47299019	47299019	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47299019T>G	uc010hjp.3	-	10	1617	c.1013A>C	c.(1012-1014)aAg>aCg	p.K338T	KIF9_uc003cqx.3_Missense_Mutation_p.K338T|KIF9_uc003cqy.3_Missense_Mutation_p.K338T|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	338					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGTGACTAGCTTCATCCTGCT	0.507000														156			32		0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49933258	49933258	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49933258C>T	uc001ruh.1	+	0	319	c.59C>T	c.(58-60)aCg>aTg	p.T20M	KCNH3_uc010smj.1_5'UTR	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	20	PAS.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCATCGCTACGCGCTTCGAC	0.746000														64			18		0	0	1	0	0
SKIV2L	6499	broad.mit.edu	37	6	31936211	31936211	+	Missense_Mutation	SNP	C	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31936211C>G	uc003nyn.1	+	23	3354	c.2965C>G	c.(2965-2967)Cag>Gag	p.Q989E	SKIV2L_uc011dou.1_Missense_Mutation_p.Q831E|SKIV2L_uc011dov.1_Missense_Mutation_p.Q796E|STK19_uc003nyt.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	989						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CAATGACCTGCAGCTCAAAGA	0.632000														208			46		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60484019	60484019	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60484019C>A	uc010wpc.2	+	8	894	c.823C>A	c.(823-825)Ctt>Att	p.L275I	EFCAB3_uc002izu.2_Missense_Mutation_p.L223I	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	223							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			ATTTAAATTTCTTGAAGAGCT	0.393000														65			13		1.05317e-09	1.17384e-09	1	1	0
D2HGDH	728294	broad.mit.edu	37	2	242681954	242681954	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:242681954G>A	uc002wce.1	+	3	628	c.455G>A	c.(454-456)cGc>cAc	p.R152H	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.R18H|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	152	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TCCACTGCCCGCATGAACCGG	0.642000														136			28		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38187396	38187396	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:38187396C>A	uc009vvi.3	-	10	2168	c.2082G>T	c.(2080-2082)gaG>gaT	p.E694D	EPHA10_uc001cbt.3_5'Flank|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	694	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCGTGAGGGCCTCGGCCAGGA	0.672000														59			17		3.52763e-06	3.73571e-06	1	1	0
HTR4	3360	broad.mit.edu	37	5	147863911	147863911	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:147863911C>T	uc021yfj.1	-	5	1155	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CAATACCTTGCTAAAATGTCT	0.393000														60			12		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208266196	208266196	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208266196G>A	uc001hgz.3	-	8	2790	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	678					axon guidance	integral to membrane|intracellular|plasma membrane		p.R678H(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGAGGTTGCGGTACTTGCAC	0.547000														94			8		0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344327	233344327	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:233344327C>T	uc001hvl.2	-	12	3035	c.2800G>A	c.(2800-2802)Gtt>Att	p.V934I	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.V233I	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	934						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCATACACAACGTAACTGGGA	0.448000														97			8		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419688	88419688	+	Silent	SNP	C	T	T	rs141316756		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88419688C>T	uc010qmk.1	+	6	1097	c.870C>T	c.(868-870)ggC>ggT	p.G290G	OPN4_uc001kdp.3_Silent_p.G290G|OPN4_uc001kdq.3_Silent_p.G279G|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	279					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						AGGGCAATGGCGAGTCCCTGT	0.632000														138			21		0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	136767	136767	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:136767G>A	uc002cfr.3	-	14	1768	c.1644C>T	c.(1642-1644)agC>agT	p.S548S	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Silent_p.S470S|NPRL3_uc021szm.1_Silent_p.S523S|NPRL3_uc021szn.1_Silent_p.S523S|NPRL3_uc002cfq.3_Silent_p.S369S	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	549							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CCACCAGCACGCTGCGGAACT	0.637000														18			9		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189901341	189901341	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189901341C>T	uc002uqk.3	-	52	4388	c.4113_splice	c.e52+1	p.Q1371_splice	COL5A2_uc010frx.3_Splice_Site_p.Q947_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1371	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TATTAAATTACCTGAGACCCT	0.328000														39			14		0	0	1	0	0
SLC6A6	6533	broad.mit.edu	37	3	14518805	14518805	+	Silent	SNP	C	T	T	rs145506460		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14518805C>T	uc010heg.3	+	10	1601	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	SLC6A6_uc003byq.3_Silent_p.F434F|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	434					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	p.A433A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TCATCGCCTTCGTGTGTAGCA	0.522000														159			30		0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19454678	19454678	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19454678C>T	uc002nmk.4	+	9	1045	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	MAU2_uc002nml.4_5'Flank|MAU2_uc010ecd.3_5'Flank	NM_015329	NP_056144	Q9Y6X3	SCC4_HUMAN	Homo sapiens MAU2 chromatid cohesion factor homolog (C. elegans) (MAU2), mRNA.	336					cell division|maintenance of mitotic sister chromatid cohesion	SMC loading complex|chromatin|nucleoplasm	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						GTCATCCTTCCAAGTGATCCT	0.637000														219			60		0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079958	5079958	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5079958G>T	uc010qyw.2	-	0	900	c.900C>A	c.(898-900)atC>atA	p.I300I		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACATTTATAGATCTGCTTGG	0.383000														83			25		1.66031e-10	1.87009e-10	1	1	0
TRAIP	10293	broad.mit.edu	37	3	49885589	49885589	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49885589T>C	uc003cxs.1	-	1	249	c.143A>G	c.(142-144)cAg>cGg	p.Q48R	TRAIP_uc010hla.1_Missense_Mutation_p.Q48R|TRAIP_uc011bcx.2_Missense_Mutation_p.Q48R	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	48					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.P47A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATTCGGCACTGTGGGCAGGT	0.488000														55			20		0	0	1	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652542	115652542	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:115652542C>T	uc004bgk.3	-	0	652	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	140						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGTTCAGCGCCGCCGCCCCGT	0.692000														110			26		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102595604	102595604	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:102595604G>A	uc022bky.1	+	5	1923	c.1155G>A	c.(1153-1155)ctG>ctA	p.L385L	NR4A3_uc004bae.3_Silent_p.L374L|NR4A3_uc004baf.1_Silent_p.L374L	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	374					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGGTCGTCTGCCTTCCAAAC	0.453000			T	EWSR1	extraskeletal myxoid chondrosarcoma									93			21		0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448438	20448438	+	Missense_Mutation	SNP	G	A	A	rs141553052	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20448438G>A	uc002dhe.3	+	10	1520	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	458					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding	p.R458S(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GACCGAGCTCGCATGGACAAG	0.478000														242			24		0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31157151	31157151	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31157151G>T	uc002ebd.3	-	5	738	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	PRSS36_uc010vff.2_Missense_Mutation_p.L2M|PRSS36_uc010vfg.2_Missense_Mutation_p.L227M|PRSS36_uc010vfh.2_Missense_Mutation_p.L227M	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	227	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CCAGCACACAGCATCCCTGGC	0.617000														165			33		2.42023e-17	2.90129e-17	1	1	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898709	112898709	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:112898709C>A	uc004bei.2	+	8	1773	c.1581C>A	c.(1579-1581)tgC>tgA	p.C527*	PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.C295*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.C295*|PALM2-AKAP2_uc004bel.1_Nonsense_Mutation_p.C105*|PALM2-AKAP2_uc011lwi.2_Nonsense_Mutation_p.C153*|PALM2-AKAP2_uc004bem.3_Nonsense_Mutation_p.C153*|PALM2-AKAP2_uc010mtw.1_Nonsense_Mutation_p.C113*|PALM2-AKAP2_uc011lwj.2_Nonsense_Mutation_p.C64*|PALM2-AKAP2_uc004ben.3_Nonsense_Mutation_p.C64*	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	64							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGGCCAACTGCTGTGATTCTG	0.562000														197			35		1.45844e-13	1.7027e-13	1	1	0
PAICS	10606	broad.mit.edu	37	4	57325540	57325540	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:57325540C>A	uc010ihd.1	+	8	1198	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	PAICS_uc003hbs.1_Missense_Mutation_p.L372I|PAICS_uc011cac.1_Missense_Mutation_p.L372I|PAICS_uc003hbt.1_Missense_Mutation_p.L379I|PAICS_uc003hbu.1_Missense_Mutation_p.L372I	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	372	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	ACCAATAGGTCTTGGCTGTTC	0.403000														31			6		3.59834e-05	3.75534e-05	1	1	0
DTX2	113878	broad.mit.edu	37	7	76131738	76131738	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:76131738C>A	uc011kgk.1	+	6	1433	c.1081C>A	c.(1081-1083)Ctg>Atg	p.L361M	DTX2_uc003uff.4_Missense_Mutation_p.L452M|DTX2_uc003ufg.4_Missense_Mutation_p.L452M|DTX2_uc003ufh.4_Missense_Mutation_p.L452M|DTX2_uc003ufj.4_Missense_Mutation_p.L405M|DTX2_uc003ufk.4_Missense_Mutation_p.L83M|DTX2_uc003ufl.1_Missense_Mutation_p.L114M|DTX2_uc003ufm.4_Missense_Mutation_p.L165M|DTX2_uc003ufn.4_Missense_Mutation_p.L37M	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	452					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTTCCACCTGCTGTGCCTCCT	0.647000														76			22		2.98393e-07	3.21458e-07	1	1	0
MBTPS1	8720	broad.mit.edu	37	16	84132819	84132819	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84132819A>C	uc002fhi.3	-	2	762	c.260T>G	c.(259-261)aTt>aGt	p.I87S		NM_003791	NP_003782	Q14703	MBTP1_HUMAN	Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA.	87					cholesterol metabolic process|proteolysis	Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGAGGTATAATTCTCCAATT	0.378000														130			31		0	0	1	0	0
ABL1	25	broad.mit.edu	37	9	133759474	133759474	+	Missense_Mutation	SNP	G	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133759474G>C	uc004bzw.3	+	10	1800	c.1797G>C	c.(1795-1797)ttG>ttC	p.L599F	ABL1_uc004bzv.3_Missense_Mutation_p.L618F	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	599					DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGACCAACTTGTTCAGCGCCT	0.597000			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""									314			29		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16026334	16026334	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:16026334G>A	uc010lsu.3	-	3	381	c.317C>T	c.(316-318)aCt>aTt	p.T106I	MSR1_uc003wwz.3_Missense_Mutation_p.T88I|MSR1_uc003wxa.3_Missense_Mutation_p.T88I|MSR1_uc003wxb.3_Missense_Mutation_p.T88I|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	88	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTTGCATTAGTTGAACTAAC	0.378000														122			23		0	0	1	0	0
MGC16703	113691	broad.mit.edu	37	22	21363184	21363184	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21363184C>T	uc002zty.4	-	2		c.1272G>A			MGC16703_uc010gss.2_Non-coding_Transcript|THAP7-AS1_uc002ztv.3_Non-coding_Transcript					Homo sapiens tubulin, alpha pseudogene (MGC16703), non-coding RNA.																		ATGCAGCAGGCCATGTACTTG	0.572000														151			28		0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17937567	17937567	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17937567G>T	uc002nhn.4	-	23	3460	c.3360C>A	c.(3358-3360)tcC>tcA	p.S1120S	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1120					B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						AAAAGGACAGGGAGTGGTGTT	0.617000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""									241			46		4.0181e-32	5.07032e-32	1	1	0
GPR107	57720	broad.mit.edu	37	9	132848734	132848734	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:132848734T>C	uc004bze.2	+	6	827	c.600T>C	c.(598-600)aaT>aaC	p.N200N	GPR107_uc004bzb.2_Silent_p.N11N|GPR107_uc011mbx.1_Silent_p.N200N|GPR107_uc004bzd.2_Silent_p.N200N	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TTCATAATAATGGTGGGGCAG	0.348000														119			22		0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58622881	58622881	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:58622881C>T	uc003dkq.3	-	7	742	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_138805	NP_620160	Q96BQ1	FAM3D_HUMAN	Homo sapiens family with sequence similarity 3, member D (FAM3D), mRNA.	149					negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		GTCCCTGGATCGTCGTAGGAG	0.507000														41			9		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4836804	4836804	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4836804G>A	uc003bqc.3	+	51	7169	c.6819G>A	c.(6817-6819)tcG>tcA	p.S2273S	ITPR1_uc021wsi.1_Silent_p.S2240S|ITPR1_uc021wsj.1_Silent_p.S2225S|ITPR1_uc011asu.2_Intron|ITPR1_uc010hcc.2_Silent_p.S8S	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2288					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAGCATTTCGTTTAACCTGG	0.522000														58			11		0	0	1	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25370758	25370758	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:25370758A>G	uc003grl.4	+	12	1550	c.1514A>G	c.(1513-1515)gAa>gGa	p.E505G		NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	505							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				AAAAGGAGGGAAAGAGCCCAT	0.388000														84			18		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22294121	22294121	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:22294121G>A	uc001wbw.2	+	1	234	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		CTTTCAGTGAGAACACAAAGT	0.468000														131			33		0	0	1	0	0
PRSS45	377047	broad.mit.edu	37	3	46784535	46784535	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46784535C>A	uc010hjl.3	-	2	356	c.321G>T	c.(319-321)caG>caT	p.Q107H	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	139	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						CCTCAGCCTCCTGCAGCTCTG	0.577000														107			27		1.55811e-20	1.90328e-20	1	1	0
ROCK2	9475	broad.mit.edu	37	2	11337362	11337362	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:11337362T>C	uc002rbd.1	-	26	3841	c.3392A>G	c.(3391-3393)gAt>gGt	p.D1131G		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1131		Cleavage; by granzyme B.			axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		ACTGGAACTATCCAGACCAAT	0.433000														110			41		0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72754785	72754785	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72754785C>A	uc003tya.2	+	5	866	c.734C>A	c.(733-735)gCt>gAt	p.A245D	FKBP6_uc003twz.2_Missense_Mutation_p.A215D|FKBP6_uc011kew.1_Missense_Mutation_p.A240D|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	245					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGAGAGCAGGCTTTGATCATT	0.522000														111			7		0.0293803	0.0295844	1	1	0
TTLL5	23093	broad.mit.edu	37	14	76135778	76135778	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:76135778T>C	uc010ask.2	+	2	369	c.94T>C	c.(94-96)Tgg>Cgg	p.W32R	TTLL5_uc001xrw.2_Missense_Mutation_p.W32R|TTLL5_uc001xrx.3_Missense_Mutation_p.W32R|TTLL5_uc001xrv.3_Missense_Mutation_p.W32R	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	32					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ATGCATCATGTGGACTGGAGG	0.408000														179			11		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27642431	27642431	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:27642431G>A	uc002dow.3	+	4	380	c.356G>A	c.(355-357)aGa>aAa	p.R119K	KIAA0556_uc002dox.1_5'Flank	NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	119										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GAAGCCTTAAGACGCAGTTCA	0.552000														9			3		0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10940946	10940946	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10940946G>A	uc002mpt.2	+	19	2625	c.2435G>A	c.(2434-2436)cGg>cAg	p.R812Q	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.R812Q|DNM2_uc010dxl.2_Missense_Mutation_p.R812Q|DNM2_uc002mpu.2_Missense_Mutation_p.R808Q|DNM2_uc002mpv.2_Missense_Mutation_p.R808Q|DNM2_uc002mpw.3_Missense_Mutation_p.R541Q|DNM2_uc002mpx.1_Missense_Mutation_p.R168Q	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	812	Pro-rich.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ATCCCATCCCGGCCTGGACCC	0.697000			"""F, N, Splice, Mis, O"""		ETP ALL									356			78		0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89657065	89657065	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:89657065G>A	uc001dnb.3	-	5	911	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	265						cytoplasm	GTP binding|GTPase activity	p.M264I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CTGGCACTTCGTCCATATGAT	0.418000														91			22		0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71869243	71869243	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:71869243C>T	uc004ahe.3	+	22	3844	c.3526C>T	c.(3526-3528)Cgc>Tgc	p.R1176C	TJP2_uc011lrs.2_Missense_Mutation_p.R1006C|TJP2_uc004ahf.3_Missense_Mutation_p.R1029C|TJP2_uc011lru.2_Missense_Mutation_p.R1143C|TJP2_uc011lrv.2_Missense_Mutation_p.R1207C|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	p.R1176H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACACTCCAAGCGCGGTTACTA	0.552000														139			37		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906095	149906095	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:149906095G>A	uc001etl.4	-	6	923	c.672C>T	c.(670-672)gaC>gaT	p.D224D	MTMR11_uc001etm.2_Silent_p.D152D|MTMR11_uc010pbm.1_Silent_p.D196D|MTMR11_uc010pbn.1_Silent_p.D66D	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	224	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TGGTGGCTACGTCGAACCTCT	0.572000														241			52		0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99771527	99771527	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:99771527C>T	uc001dse.3	+	6	1411	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	LPPR4_uc010oue.2_Missense_Mutation_p.P360L	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	418							phosphatidate phosphatase activity	p.P418P(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AATACCTTGCCGCGAGCCAAT	0.498000														102			21		0	0	1	0	0
AHCY	191	broad.mit.edu	37	20	32883326	32883326	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:32883326G>T	uc002xai.3	-	1	233	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	AHCY_uc002xaj.3_Missense_Mutation_p.L4M|AHCY_uc010get.2_Missense_Mutation_p.L32M	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	32					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ATACGCATCAGGCCCGGCATC	0.652000														91			20		3.51602e-12	4.04451e-12	1	1	0
FILIP1	27145	broad.mit.edu	37	6	76023250	76023250	+	Silent	SNP	C	T	T	rs147346630		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:76023250C>T	uc010kbe.3	-	5	2837	c.2307G>A	c.(2305-2307)ggG>ggA	p.G769G	FILIP1_uc003phy.1_Silent_p.G766G|FILIP1_uc003phz.3_Silent_p.G667G|FILIP1_uc003pia.3_Silent_p.G766G|FILIP1_uc003pib.1_Silent_p.G518G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	766										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAACCTCCTGCCCCATGTTTT	0.413000														193			36		0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113496682	113496682	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113496682C>T	uc001vsj.4	+	16	1886	c.1798C>T	c.(1798-1800)Cgt>Tgt	p.R600C	ATP11A_uc001vsi.4_Missense_Mutation_p.R600C|ATP11A_uc001vsm.1_Missense_Mutation_p.R476C|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	600					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAGAGTGGAGCGTAACGCAGT	0.532000														16			6		0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88387540	88387540	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:88387540G>A	uc002ssr.3	+	2	559	c.474G>A	c.(472-474)tgG>tgA	p.W158*	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_5'Flank	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	158	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						TGCAGTACTGGCCGCCGCAGA	0.607000														118			44		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506868	152506868	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152506868C>T	uc021vrb.1	-	51	7282	c.7253G>A	c.(7252-7254)tGg>tAg	p.W2418*	NEB_uc002txu.3_Nonsense_Mutation_p.W2418*|NEB_uc021vrc.1_Nonsense_Mutation_p.W2418*|NEB_uc010fnx.3_Nonsense_Mutation_p.W2418*|NEB_uc021vrd.1_Nonsense_Mutation_p.W2418*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2418					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCCTCTCAGCCACTCAAGGTC	0.443000														82			14		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250008	52250008	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52250008G>T	uc021uyn.1	-	2	386	c.240C>A	c.(238-240)ttC>ttA	p.F80L	FPR1_uc002pxq.3_Missense_Mutation_p.F80L|FPR1_uc021uyo.1_Missense_Mutation_p.F80L	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	80					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TGACCATGAAGAATGGCAAAG	0.512000														130			29		4.59853e-10	5.14677e-10	1	1	0
BTNL8	79908	broad.mit.edu	37	5	180377192	180377192	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:180377192G>A	uc003mmp.3	+	7	1385	c.1151G>A	c.(1150-1152)gGa>gAa	p.G384E	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.G259E|BTNL8_uc010jlm.3_Missense_Mutation_p.G268E|BTNL8_uc011dhh.2_Missense_Mutation_p.G200E	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	384	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGACTGAATGGAGAACATTTG	0.512000														130			36		0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7582959	7582959	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:7582959C>T	uc003mxp.1	+	23	5743	c.5464C>T	c.(5464-5466)Ctg>Ttg	p.L1822L	DSP_uc003mxq.1_Silent_p.L1223L|DSP_uc021yle.1_Silent_p.L1379L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1822	Central fibrous rod domain.				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)		AATCAAAGTCCTGGAGCAAGA	0.478000														160			28		0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	532557	532557	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:532557G>A	uc003mtd.3	-	22	2426	c.2292C>T	c.(2290-2292)atC>atT	p.I764I	EXOC2_uc003mte.3_Silent_p.I764I|EXOC2_uc011dho.2_Silent_p.I359I	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	764					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CTTTCAACTCGATGTAATTTT	0.393000														81			19		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131066680	131066680	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131066680T>C	uc003kvs.1	-	2	413	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.K91E|RAPGEF6_uc010jdm.1_Intron|RAPGEF6_uc003kvu.3_Missense_Mutation_p.K91E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	1262					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CCTCCAGGTTTCAGTTGGCAG	0.373000														89			18		0	0	1	0	0
AAED1	195827	broad.mit.edu	37	9	99404096	99404096	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99404096A>C	uc004awm.3	-	5	662	c.626T>G	c.(625-627)cTt>cGt	p.L209R		NM_153698	NP_714542	Q7RTV5	CI021_HUMAN	Homo sapiens chromosome 9 open reading frame 21 (C9orf21), mRNA.	209							antioxidant activity|oxidoreductase activity										AACTCCTACAAGCTGTAAAAC	0.388000														86			24		0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189922062	189922062	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:189922062C>A	uc002uqk.3	-	33	2596	c.2321G>T	c.(2320-2322)gGc>gTc	p.G774V	COL5A2_uc010frx.3_Missense_Mutation_p.G350V	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	774					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACCCTTGGGGCCAGGAGTTCC	0.443000														121			6		5.9392e-07	6.36579e-07	1	1	0
LANCL1	10314	broad.mit.edu	37	2	211319832	211319832	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:211319832G>A	uc010zjh.2	-	4	482	c.407_splice	c.e4+1	p.R136_splice	LANCL1_uc002ved.3_Splice_Site_p.R136_splice|LANCL1_uc010fuq.3_Splice_Site_p.R136_splice	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	136						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CATGATTACCGTGTGATGCAA	0.413000														116			28		0	0	1	0	0
MSX1	4487	broad.mit.edu	37	4	4864471	4864471	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:4864471G>A	uc003gif.3	+	1	748	c.513G>A	c.(511-513)acG>acA	p.T171T		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	165					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACACAAGACGAACCGTAAGC	0.617000														361			84		0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893898	78893898	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78893898G>A	uc002bec.3	-	4	1587	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	CHRNA3_uc002beb.3_Silent_p.N362N|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	362					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTTGCCCTCGTTGCTTGTTG	0.567000														171			53		0	0	1	0	0
FAM131A	131408	broad.mit.edu	37	3	184062357	184062357	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:184062357C>T	uc003foe.3	+	5	843	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	FAM131A_uc003foc.3_Missense_Mutation_p.R149C|FAM131A_uc003fog.3_Missense_Mutation_p.R203C	NM_144635	NP_001164564	Q6UXB0	F131A_HUMAN	Homo sapiens family with sequence similarity 131, member A (FAM131A), transcript variant 1, mRNA.	203						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGCCTGTGCGCCAGGGCTC	0.642000														280			61		0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23792445	23792445	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23792445A>C	uc003sws.4	+	8	1194	c.1127A>C	c.(1126-1128)gAa>gCa	p.E376A	STK31_uc003swt.4_Missense_Mutation_p.E353A|STK31_uc011jze.2_Missense_Mutation_p.E376A|STK31_uc010kuq.3_Missense_Mutation_p.E353A	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	376							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATACTGAAAGAAATGAGGTAG	0.328000														57			9		0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3441290	3441290	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:3441290C>A	uc003ggw.3	+	17	5127	c.4223C>A	c.(4222-4224)gCt>gAt	p.A1408D	RGS12_uc003ggz.3_Missense_Mutation_p.A760D|RGS12_uc003gha.3_Missense_Mutation_p.A750D|RGS12_uc010icv.3_Missense_Mutation_p.A607D|HGFAC_uc003ghc.3_5'Flank|HGFAC_uc010icw.3_5'Flank	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1408						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGGGCACAGGCTGGCCCTGGG	0.662000														95			17		3.41278e-10	3.83229e-10	1	1	0
COL16A1	1307	broad.mit.edu	37	1	32138370	32138370	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:32138370T>C	uc001btk.1	-	44	3296	c.2931A>G	c.(2929-2931)ggA>ggG	p.G977G	COL16A1_uc001btj.1_Silent_p.G790G	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	977	Triple-helical region 3 (COL3).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGCCCTGGTCTCCCTTCTCTC	0.652000														133			8		0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138377508	138377508	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:138377508C>T	uc022bpi.1	+	0	1152	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A	PPP1R26_uc004cfr.1_Silent_p.A384A	NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 26 (PPP1R26), mRNA.	384						nucleolus	protein binding										GCAAGGAGGCCGACGGGGACC	0.637000														126			34		0	0	1	0	0
CLK2P	1197	broad.mit.edu	37	7	23625244	23625244	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:23625244G>A	uc003swk.2	-	0	903	c.253C>T	c.(253-255)Cga>Tga	p.R85*						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CGCTCATGTCGCTTCTTCTCT	0.493000														146			34		0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112638284	112638284	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:112638284C>T	uc002thi.3	-	1	366	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGCAGCTGGCGAAGTTGAAG	0.493000														94			18		0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831267	86831267	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:86831267C>A	uc002srn.3	-	3	2748	c.1757G>T	c.(1756-1758)aGc>aTc	p.S586I	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Missense_Mutation_p.S447I|RNF103_uc021vkg.1_Missense_Mutation_p.S582I|BC066991_uc002sro.3_Non-coding_Transcript	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	586					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TTCACATGGGCTGGTCTGACA	0.423000														265			109		4.95785e-36	6.2846e-36	1	1	0
PHACTR1	221692	broad.mit.edu	37	6	13206049	13206049	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:13206049C>T	uc003nah.2	+	7	1040	c.667C>T	c.(667-669)Cct>Tct	p.P223S	PHACTR1_uc011dir.2_Missense_Mutation_p.P292S|PHACTR1_uc010jpc.3_Missense_Mutation_p.P223S|PHACTR1_uc003nag.2_Missense_Mutation_p.P223S	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	223						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGCCACAGATCCTGGCGCCCC	0.562000														101			27		0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43450702	43450702	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:43450702G>A	uc002lbm.3	-	35	6155	c.6055C>T	c.(6055-6057)Ctg>Ttg	p.L2019L	EPG5_uc010xcr.1_Non-coding_Transcript|EPG5_uc010xcs.1_Intron|EPG5_uc010xcq.1_Silent_p.L573L|EPG5_uc002lbn.2_Silent_p.L894L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	Homo sapiens ectopic P-granules autophagy protein 5 homolog (C. elegans) (EPG5), mRNA.	2019					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTGGCAACAGCTTATCTAGA	0.373000														58			11		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967929	93967929	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:93967929G>A	uc003poe.3	-	10	2239	c.1998C>T	c.(1996-1998)acC>acT	p.T666T	EPHA7_uc003pof.3_Silent_p.T661T|EPHA7_uc011eac.2_Silent_p.T662T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	666	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CAACTTTCAGGGTTTTTATGG	0.448000														144			33		0	0	1	0	0
CIB2	10518	broad.mit.edu	37	15	78398176	78398176	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:78398176G>A	uc010ums.1	-	4	768	c.447C>T	c.(445-447)tgC>tgT	p.C149C	CIB2_uc002bdb.1_Silent_p.C149C|CIB2_uc002bdc.1_Silent_p.C106C	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	149	EF-hand 3.						calcium ion binding	p.C149C(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						TGACCTTGTCGCACACAAGCA	0.567000														177			17		0	0	1	0	0
AKNA	80709	broad.mit.edu	37	9	117120303	117120303	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:117120303G>A	uc004biq.3	-	10	2772	c.2637C>T	c.(2635-2637)tcC>tcT	p.S879S	AKNA_uc004bin.3_Silent_p.S126S|AKNA_uc004bio.3_Silent_p.S339S|AKNA_uc004bip.3_Silent_p.S798S|AKNA_uc004bir.3_Silent_p.S879S|AKNA_uc004bis.3_Silent_p.S879S|AKNA_uc010mve.2_Silent_p.S760S	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	879					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGGATGCTGCGGACTTGGTGC	0.662000														174			32		0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142146825	142146825	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:142146825A>C	uc003yvy.3	+	1	358	c.80A>C	c.(79-81)gAg>gCg	p.E27A	DENND3_uc003yvw.1_Missense_Mutation_p.E40A|DENND3_uc003yvx.3_Missense_Mutation_p.E107A|DENND3_uc010mep.3_Missense_Mutation_p.E40A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	27	UDENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGAGCGCCAGAGCCTGAGGAT	0.667000														43			14		0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66053985	66053985	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:66053985G>A	uc011dxu.1	-	9	2083	c.1545C>T	c.(1543-1545)aaC>aaT	p.N515N	EYS_uc003peq.3_Silent_p.N515N|EYS_uc003per.1_Silent_p.N515N|EYS_uc021zbn.1_Silent_p.N515N	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	515					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTTCAGGATCGTTCACATAGG	0.373000														86			16		0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48621980	48621980	+	Nonsense_Mutation	SNP	C	A	A	rs149361101		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:48621980C>A	uc003ctz.2	-	34	4058	c.4057G>T	c.(4057-4059)Gga>Tga	p.G1353*		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	1353	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGACTTGTCCGGGAGCCCCC	0.582000														339			13		9.31168e-06	9.81217e-06	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168100760	168100760	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168100760A>C	uc002udx.3	+	8	2947	c.2858A>C	c.(2857-2859)gAa>gCa	p.E953A	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E778A|XIRP2_uc010fpq.3_Missense_Mutation_p.E731A|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	778					actin cytoskeleton organization	cell junction	actin binding			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						CATATCTTTGAATCAAACAAT	0.343000														54			12		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284885	62284885	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62284885G>A	uc001ntl.3	-	4	17304	c.17004C>T	c.(17002-17004)ttC>ttT	p.F5668F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5668					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGGCCAGAGAAGGTAAATT	0.532000														110			36		0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58773509	58773509	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:58773509A>G	uc010euo.3	+	6	2011	c.1537A>G	c.(1537-1539)Aca>Gca	p.T513A	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.T485A|ZNF544_uc010yhy.2_Missense_Mutation_p.T485A|ZNF544_uc002qrt.4_Missense_Mutation_p.T371A|ZNF544_uc002qru.4_Missense_Mutation_p.T371A|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		ACATCAGAGGACACACACTGG	0.438000														115			26		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152311610	152311610	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152311610C>A	uc002txm.3	+	21	2707	c.2546C>A	c.(2545-2547)tCt>tAt	p.S849Y	RIF1_uc010fnv.2_Missense_Mutation_p.S813Y|RIF1_uc002txn.3_Missense_Mutation_p.S849Y|RIF1_uc002txl.3_Missense_Mutation_p.S849Y|RIF1_uc002txo.3_Missense_Mutation_p.S849Y	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	849					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TCTTTGCCTTCTATGATCCGA	0.358000														105			26		9.86323e-18	1.1857e-17	1	1	0
RDX	5962	broad.mit.edu	37	11	110128544	110128544	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:110128544A>C	uc009yxy.3	-	6	956	c.646T>G	c.(646-648)Ttg>Gtg	p.L216V	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Intron|RDX_uc001pku.3_Missense_Mutation_p.L216V|RDX_uc010rwe.2_Missense_Mutation_p.L80V	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	216	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CCTAGCCACAATTCAGTTCCT	0.348000														119			32		0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169503008	169503008	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:169503008C>T	uc003maf.3	+	46	4866	c.4786C>T	c.(4786-4788)Cga>Tga	p.R1596*	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Nonsense_Mutation_p.R1088*|DOCK2_uc003mah.3_Nonsense_Mutation_p.R152*	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1596	DHR-2.				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			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)			AGATAACTTGCGACCCTTCCA	0.502000														246			64		0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201322	71201322	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71201322G>T	uc003hff.3	+	0	652	c.566G>T	c.(565-567)aGc>aTc	p.S189I	CABS1_uc021xoz.1_Missense_Mutation_p.S189I	NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA.	189						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGATATGAGCAATTATAAT	0.473000														71			17		3.45872e-05	3.61362e-05	1	1	0
NFATC3	4775	broad.mit.edu	37	16	68156009	68156009	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:68156009T>C	uc002evo.2	+	1	539	c.223T>C	c.(223-225)Tca>Cca	p.S75P	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.S75P|NFATC3_uc002evm.2_Missense_Mutation_p.S75P|NFATC3_uc002evn.2_Missense_Mutation_p.S75P|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	75			S -> L (in dbSNP:rs2230092).		inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTCTGTTTTGTCACCATCGTT	0.408000														131			36		0	0	1	0	0
MARCH9	92979	broad.mit.edu	37	12	58151910	58151910	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:58151910C>T	uc001spx.2	+	2	964	c.533C>T	c.(532-534)aCg>aTg	p.T178M	MARCH9_uc001spy.3_Missense_Mutation_p.T65M	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	178						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			ATCTCCCTGACGGTCATCGAG	0.597000														96			16		0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49753586	49753586	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:49753586C>T	uc003cxh.3	+	33	3477	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C	RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	1131						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)		CCTGTTTGATCGTGTGGTCAC	0.582000														63			15		0	0	1	0	0
LILRB5	10990	broad.mit.edu	37	19	54759962	54759962	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54759962C>A	uc010yer.1	-	3	683	c.572G>T	c.(571-573)aGg>aTg	p.R191M	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.R200M|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Missense_Mutation_p.R200M|LILRB5_uc002qfa.1_Intron|LILRB5_uc010yes.1_Splice_Site			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	200	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGGGTTTTTCCTGTAATAGTA	0.532000														119			26		1.64293e-13	1.91604e-13	1	1	0
TYK2	7297	broad.mit.edu	37	19	10472585	10472585	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10472585C>T	uc002moc.4	-	12	2198	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	TYK2_uc010dxe.3_Missense_Mutation_p.R422H|TYK2_uc002mod.2_Missense_Mutation_p.R607H	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	607	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CACTCGCAGGCGGCCCTCATA	0.632000														250			59		0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7691221	7691221	+	Missense_Mutation	SNP	C	T	T	rs142583624		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7691221C>T	uc002giu.1	+	41	6661	c.6647C>T	c.(6646-6648)cCg>cTg	p.P2216L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2216	AAA 2 (By similarity).				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)				ATGGCCTCTCCGGCCACTGTA	0.532000														133			12		0	0	1	0	0
ASPHD2	57168	broad.mit.edu	37	22	26838423	26838423	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26838423A>G	uc003acg.2	+	3	1284	c.887_splice	c.e3-2	p.G296_splice		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	296					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTCCTACAAGGTCTGAAAA	0.517000														251			22		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236850067	236850067	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236850067C>A	uc001hyf.2	+	0	298	c.94C>A	c.(94-96)Ctg>Atg	p.L32M	ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.L32M	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	32	Actin-binding.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CGACCTGCTCCTGGACCCAGC	0.692000														72			11		4.68919e-08	5.11014e-08	1	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140214937	140214937	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140214937C>T	uc003lhq.2	+	0	969	c.969C>T	c.(967-969)gtC>gtT	p.V323V	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_uc011dac.2_Silent_p.V323V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGGCTGTCGATAAAGGCT	0.473000														122			24		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15814797	15814797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15814797G>A	uc002ddx.3	-	33	4818	c.4711C>T	c.(4711-4713)Cgg>Tgg	p.R1571W	MYH11_uc002ddv.3_Missense_Mutation_p.R1571W|MYH11_uc002ddw.3_Missense_Mutation_p.R1564W|MYH11_uc002ddy.3_Missense_Mutation_p.R1564W|MYH11_uc010bvg.3_Missense_Mutation_p.R1396W|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.R270W|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1564					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.A1571V(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTTCCAGCCGCAGTTTGGCG	0.602000			T	CBFB	AML									219			38		0	0	1	0	0
SCRIB	23513	broad.mit.edu	37	8	144885613	144885613	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144885613G>A	uc003yzp.1	-	23	3550	c.3543C>T	c.(3541-3543)ggC>ggT	p.G1181G	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Silent_p.G1181G	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1181	Interaction with ARHGEF7.|PDZ 4.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TGAGGGTGTCGCCCACACTGC	0.701000														43			11		0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217213	21217213	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21217213C>T	uc003zor.1	-	0	98	c.92G>A	c.(91-93)aGc>aAc	p.S31N	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	31					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ATTACCCAGGCTGTGAGTCTG	0.507000														192			33		0	0	1	0	0
IGDCC4	57722	broad.mit.edu	37	15	65678349	65678349	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:65678349C>T	uc002aou.1	-	17	3210	c.3000G>A	c.(2998-3000)gcG>gcA	p.A1000A	IGDCC4_uc002aot.1_Silent_p.A588A	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	1000						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						TGGAGTACAGCGCGGGATTCC	0.662000											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			6		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64111522	64111522	+	Missense_Mutation	SNP	G	T	T	rs149069335	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64111522G>T	uc001nzy.3	+	13	1558	c.1509G>T	c.(1507-1509)gaG>gaT	p.E503D	CCDC88B_uc009ypo.2_Missense_Mutation_p.E500D|CCDC88B_uc001nzz.1_Missense_Mutation_p.E152D	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	503					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGCTGGAGGAGGCTCCCCAGA	0.657000														134			25		1.66031e-10	1.87009e-10	1	1	0
DROSHA	29102	broad.mit.edu	37	5	31468141	31468141	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:31468141C>A	uc003jhg.2	-	16	2630	c.2271G>T	c.(2269-2271)ctG>ctT	p.L757L	DROSHA_uc003jhh.2_Silent_p.L720L|DROSHA_uc003jhi.2_Silent_p.L720L	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA.	757	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				RNA processing|gene silencing by RNA|ribosome biogenesis	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						GTTCACGATCCAGTTGATCGA	0.423000														22			10		2.17888e-05	2.28139e-05	1	1	0
NLGN2	57555	broad.mit.edu	37	17	7315515	7315515	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7315515C>T	uc002ggt.1	+	1	570	c.497C>T	c.(496-498)cCg>cTg	p.P166L		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	166					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity	p.P166L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				ACGCTCAATCCGCCAGACACA	0.502000														110			22		0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3067840	3067840	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:3067840G>A	uc003bpc.3	+	14	1880	c.1541G>A	c.(1540-1542)aGt>aAt	p.S514N	CNTN4_uc003bpb.1_Missense_Mutation_p.S186N|CNTN4_uc021wsg.1_Missense_Mutation_p.S514N|CNTN4_uc003bpd.1_Missense_Mutation_p.S514N|CNTN4_uc003bpe.3_Missense_Mutation_p.S186N|CNTN4_uc003bpf.3_Missense_Mutation_p.S186N	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	514	Ig-like C2-type 6.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGGAGAGAGTATTGTTTTA	0.428000														60			14		0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140427	27140427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27140427C>T	uc003syh.3	-	1	1324	c.1049G>A	c.(1048-1050)aGt>aAt	p.S350N	HOXA2_uc022aaq.1_3'UTR	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	350						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						ATCTACGGGACTGTCGAGGGA	0.448000														162			35		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885941	45885941	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45885941G>A	uc002pbn.3	-	11	2369	c.2292C>T	c.(2290-2292)taC>taT	p.Y764Y	PPP1R13L_uc002pbm.3_Silent_p.Y343Y|PPP1R13L_uc002pbo.3_Silent_p.Y764Y	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	764	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CCCAGAGAGCGTACACTGCCC	0.662000														130			35		0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113213	65113213	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:65113213C>T	uc001odm.3	+	6	847	c.714C>T	c.(712-714)ggC>ggT	p.G238G	DPF2_uc010roe.2_Intron	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	238					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AGGAGGAGGGCGAGGACAAGG	0.527000														100			22		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76870504	76870504	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:76870504G>A	uc001oyb.2	+	9	1287	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	MYO7A_uc010rsl.2_Missense_Mutation_p.E339K|MYO7A_uc010rsm.1_Missense_Mutation_p.E328K|MYO7A_uc001oyc.2_Missense_Mutation_p.E339K	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	339	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.E339Q(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ACGCACATTTGAAAACCTGGA	0.602000														138			18		0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122288313	122288313	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:122288313C>T	uc003efk.3	+	2	1466	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	DTX3L_uc010hrj.3_Intron|DTX3L_uc021xdb.1_Silent_p.G295G	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	459					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		AGTCTTTGGGCAAGGAGAGAA	0.388000														173			32		0	0	1	0	0
AFG3L2	10939	broad.mit.edu	37	18	12353089	12353089	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:12353089C>T	uc002kqz.2	-	9	1427	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	411					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	TCCTTCCCACCGCATCGATTT	0.527000														184			44		0	0	1	0	0
CPT1B	1375	broad.mit.edu	37	22	51009709	51009709	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:51009709A>C	uc003bmm.3	-	14	1852	c.1753T>G	c.(1753-1755)Ttc>Gtc	p.F585V	CPT1B_uc003bmk.4_Missense_Mutation_p.F585V|CPT1B_uc003bml.3_Missense_Mutation_p.F585V|CPT1B_uc003bmo.3_Missense_Mutation_p.F585V|CPT1B_uc011asa.2_Missense_Mutation_p.F551V|CPT1B_uc003bmn.3_Missense_Mutation_p.F585V|CPT1B_uc011asb.2_Missense_Mutation_p.F504V|CPT1B_uc003bmp.3_Missense_Mutation_p.F380V|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	585					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		GTCAGGCAGAACTTACCCCTG	0.607000														128			39		0	0	1	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37962510	37962510	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37962510G>A	uc003asz.4	+	1	557	c.154G>A	c.(154-156)Ggc>Agc	p.G52S		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	52	CRIB.				positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CATGCATGTGGGCCGTGGCGG	0.647000														99			6		0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6364709	6364709	+	Missense_Mutation	SNP	C	T	T	rs148826628		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:6364709C>T	uc002gdd.4	-	17	2625	c.2474G>A	c.(2473-2475)cGc>cAc	p.R825H	PITPNM3_uc010cln.3_Missense_Mutation_p.R789H|PITPNM3_uc010clm.3_Missense_Mutation_p.R308H|PITPNM3_uc002gdc.4_Missense_Mutation_p.R416H	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	825					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CATGAGGTTGCGCAGGAAGAT	0.642000														184			47		0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050062	40050062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:40050062G>A	uc002xka.1	-	30	5391	c.5213C>T	c.(5212-5214)tCa>tTa	p.S1738L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453000														167			10		0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785193	130785193	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:130785193G>A	uc001qgk.4	-	0	1190	c.642C>T	c.(640-642)ggC>ggT	p.G214G	SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Silent_p.G214G|SNX19_uc009zcx.1_Intron	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	214	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		AATTCACAACGCCACGCGTAT	0.572000														90			25		0	0	1	0	0
TCTE1	202500	broad.mit.edu	37	6	44247991	44247991	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44247991C>T	uc003oxi.2	-	4	1589	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	478								p.R478R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCCCGCTGGCGGGCTGCTTC	0.557000														211			58		0	0	1	0	0
HHIPL1	84439	broad.mit.edu	37	14	100119188	100119188	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:100119188G>A	uc010avs.3	+	1	948	c.883G>A	c.(883-885)Gtg>Atg	p.V295M	HHIPL1_uc001ygl.1_Missense_Mutation_p.V295M	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	295					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				CGAGAACGCCGTGGACCACAG	0.602000														75			19		0	0	1	0	0
PSAP	5660	broad.mit.edu	37	10	73588821	73588821	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:73588821T>G	uc001jsm.3	-	4	493	c.389A>C	c.(388-390)gAg>gCg	p.E130A		NM_002778	NP_002769	P07602	SAP_HUMAN	Homo sapiens prosaposin (PSAP), transcript variant 1, mRNA.	130	Saposin B-type 1.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	Golgi apparatus|extracellular space|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						AGAGCACACCTCCCCAGGACG	0.542000														113			19		0	0	1	0	0
ZNF615	284370	broad.mit.edu	37	19	52497170	52497170	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52497170G>T	uc002pyf.2	-	6	1509	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	AK128361_uc021uys.1_5'Flank|ZNF615_uc002pye.2_Missense_Mutation_p.L387I|ZNF615_uc002pyh.2_Missense_Mutation_p.L398I|ZNF615_uc010epi.2_Missense_Mutation_p.L394I|ZNF615_uc002pyg.2_Missense_Mutation_p.L279I|ZNF615_uc010ydg.2_Missense_Mutation_p.L392I	NM_001199324	NP_001186253	Q8N8J6	ZN615_HUMAN	Homo sapiens zinc finger protein 615 (ZNF615), transcript variant 1, mRNA.	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGTGTGATAAGACTGTTCTTC	0.398000														98			32		5.77227e-19	6.99363e-19	1	1	0
LPO	4025	broad.mit.edu	37	17	56343534	56343534	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56343534C>T	uc002ivt.3	+	10	1856	c.1540C>T	c.(1540-1542)Cgg>Tgg	p.R514W	LPO_uc010wns.2_Missense_Mutation_p.R455W|LPO_uc010dcp.3_Missense_Mutation_p.R431W|LPO_uc010dcq.3_Missense_Mutation_p.R185W|LPO_uc010dcr.3_Missense_Mutation_p.R77W	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	514			R -> Q (in dbSNP:rs8178401).		hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TCCTCTGGTGCGGGGCCTGCT	0.532000														69			16		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111397683	111397683	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:111397683G>A	uc003iab.4	+	0	455	c.113G>A	c.(112-114)gGc>gAc	p.G38D		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	38					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)	CTTGCCGTGGGCTTGACCAGA	0.602000														324			68		0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46834846	46834846	+	Silent	SNP	C	T	T	rs147958492	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:46834846C>T	uc003oyo.3	-	12	1939	c.1650G>A	c.(1648-1650)aaG>aaA	p.K550K	GPR116_uc011dwj.1_Silent_p.K105K|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.K408K|GPR116_uc003oyq.3_Silent_p.K550K|GPR116_uc010jzi.1_Silent_p.K222K	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	550	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTATGAATTCTTATATCTAA	0.413000														86			12		0	0	1	0	0
BAIAP3	8938	broad.mit.edu	37	16	1397955	1397955	+	Missense_Mutation	SNP	G	A	A	rs148005520		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:1397955G>A	uc002clk.2	+	31	3349	c.3191G>A	c.(3190-3192)cGc>cAc	p.R1064H	BAIAP3_uc010uuz.2_Missense_Mutation_p.R1029H|BAIAP3_uc010uva.2_Missense_Mutation_p.R1001H|BAIAP3_uc021tag.1_Missense_Mutation_p.R1006H|BAIAP3_uc002clj.3_Missense_Mutation_p.R1046H|BAIAP3_uc010uvc.1_Missense_Mutation_p.R993H	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCACTGGTCCGCAGCCAGAGG	0.627000														252			60		0	0	1	0	0
TRAF7	84231	broad.mit.edu	37	16	2223366	2223366	+	Silent	SNP	C	T	T	rs113743245		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2223366C>T	uc002cow.3	+	9	1077	c.978C>T	c.(976-978)atC>atT	p.I326I		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	326					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CGGAGAAGATCGACCAGCTAG	0.637000														111			13		0	0	1	0	0
ZFAT	57623	broad.mit.edu	37	8	135614438	135614438	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:135614438C>A	uc003yup.3	-	5	1710	c.1524G>T	c.(1522-1524)caG>caT	p.Q508H	ZFAT_uc003yun.3_Missense_Mutation_p.Q496H|ZFAT_uc003yuo.3_Missense_Mutation_p.Q496H|ZFAT_uc010meh.3_Missense_Mutation_p.Q496H|ZFAT_uc010mej.3_Missense_Mutation_p.Q446H|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.Q496H|ZFAT_uc003yur.3_Missense_Mutation_p.Q496H	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.V507A(8)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GAGCTTCTTGCTGGATGTCCC	0.602000														71			8		0.0381472	0.038366	1	1	0
SMARCD3	6604	broad.mit.edu	37	7	150936233	150936233	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150936233G>A	uc003wjs.3	-	12	1509	c.1408C>T	c.(1408-1410)Cgc>Tgc	p.R470C	SMARCD3_uc003wjt.3_Missense_Mutation_p.R457C|SMARCD3_uc003wju.3_Missense_Mutation_p.R457C	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	470					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTGCCTGCGCTGCTGGATC	0.572000														189			44		0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52703750	52703750	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:52703750A>C	uc001cto.3	+	3	833	c.661A>C	c.(661-663)Aca>Cca	p.T221P	ZFYVE9_uc001ctn.3_Missense_Mutation_p.T221P|ZFYVE9_uc001ctp.3_Missense_Mutation_p.T221P	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	221					SMAD protein complex assembly|SMAD protein import into nucleus|endocytosis|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						TAGACCGAAAACAGAGGGGAG	0.373000														157			15		0	0	1	0	0
CCKAR	886	broad.mit.edu	37	4	26491823	26491823	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:26491823C>T	uc003gse.1	-	0	220	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	23					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTCTCATTTTCGAGCCCGAGT	0.483000														61			19		0	0	1	0	0
CDK7	1022	broad.mit.edu	37	5	68572463	68572463	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:68572463C>T	uc003jvs.4	+	10	1139	c.958C>T	c.(958-960)Caa>Taa	p.Q320*	CDK7_uc021xzo.1_Nonsense_Mutation_p.Q320*|CDK7_uc003jvt.4_Nonsense_Mutation_p.Q279*	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	320					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell division|cell proliferation|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	ATP binding|DNA-dependent ATPase activity|RNA polymerase II carboxy-terminal domain kinase activity|androgen receptor binding|cyclin-dependent protein kinase activity|protein C-terminus binding|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTAAAGGAGCAATCAAATCC	0.388000								Nucleotide excision repair (NER)						63			14		0	0	1	0	0
XAB2	56949	broad.mit.edu	37	19	7687725	7687725	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:7687725G>T	uc002mgx.3	-	9	1320	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	432					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACGCTTGCCAGGTCATCCACC	0.647000								Direct reversal of damage;Nucleotide excision repair (NER)						94			6		5.9392e-07	6.36579e-07	1	1	0
GBE1	2632	broad.mit.edu	37	3	81810601	81810601	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:81810601G>A	uc021xav.1	-	0	350	c.68C>T	c.(67-69)gCt>gTt	p.A23V		NM_000158	NP_000149	Q04446	GLGB_HUMAN	Homo sapiens glucan (1,4-alpha-), branching enzyme 1 (GBE1), mRNA.	23					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GGGCACGTCAGCCAGGGCGGC	0.682000									Glycogen Storage Disease, type IV					117			25		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	136030569	136030569	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:136030569C>T	uc011mcw.2	-	5	673	c.392G>A	c.(391-393)gGg>gAg	p.G131E	RALGDS_uc010nab.3_Missense_Mutation_p.G131E|RALGDS_uc011mcx.2_Missense_Mutation_p.G102R|RALGDS_uc004ccw.3_Missense_Mutation_p.G119R|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.G119R	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	60	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCACTTCCCCACGGCAAAC	0.592000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									73			14		0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55511079	55511079	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55511079C>A	uc021rti.1	+	0	1320	c.1320C>A	c.(1318-1320)tgC>tgA	p.C440*	SOCS4_uc001xbo.3_Nonsense_Mutation_p.C440*|SOCS4_uc001xbp.3_Nonsense_Mutation_p.C440*	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	440					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						AACAGCAATGCTAGTAACAGG	0.308000														32			14		4.3838e-07	4.70703e-07	1	1	0
DNAI2	64446	broad.mit.edu	37	17	72301399	72301399	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72301399C>A	uc002jkf.3	+	8	1139	c.1029C>A	c.(1027-1029)atC>atA	p.I343I	DNAI2_uc002jkg.3_Silent_p.I343I|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	343					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCATCGTCATCTCCTGCAACC	0.572000									Kartagener syndrome					136			34		1.30091e-30	1.6392e-30	1	1	0
KDM2A	22992	broad.mit.edu	37	11	66975059	66975059	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66975059A>G	uc001ojw.3	+	5	1250	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_5'UTR	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TGGACACGCTACTATGAGACC	0.517000														80			8		0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81372118	81372118	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:81372118C>T	uc009xry.3	+	3	350	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	SFTPA1_uc001kap.3_Silent_p.L75L|SFTPA1_uc001kar.3_Silent_p.L75L|SFTPA1_uc001kaq.3_Silent_p.L75L|SFTPA1_uc001kao.3_Intron|SFTPA1_uc021puu.1_Intron|SFTPA1_uc010qlt.2_Silent_p.L16L|SFTPA1_uc009xrz.3_Intron	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	75	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAATGATGGGCTGCCTGGAGC	0.607000														326			81		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578832	169578832	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:169578832G>A	uc001ggi.4	-	7	1308	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	SELP_uc001ggh.3_Missense_Mutation_p.R250C|SELP_uc009wvr.3_Missense_Mutation_p.R415C	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	415	Sushi 4.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCAGCACAGCGGAAGCTACAG	0.517000														81			23		0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102211926	102211926	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:102211926A>G	uc002bxm.3	-	13	1869	c.1814T>C	c.(1813-1815)tTt>tCt	p.F605S	TARSL2_uc002bxl.3_Missense_Mutation_p.F150S|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	605					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGTTCTCCAAAGTCCATCAA	0.348000														76			17		0	0	1	0	0
MRPL21	219927	broad.mit.edu	37	11	68664142	68664142	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:68664142G>A	uc010rqe.1	-	3	262	c.237C>T	c.(235-237)gtC>gtT	p.V79V	MRPL21_uc001ooh.3_5'UTR|MRPL21_uc001ooi.3_Silent_p.V79V	NM_181514	NP_852615	Q7Z2W9	RM21_HUMAN	Homo sapiens mitochondrial ribosomal protein L21 (MRPL21), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	79					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTTCTTCACGACCTCTGCAG	0.632000														208			39		0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	26026197	26026197	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:26026197C>T	uc010ayu.3	-	1	729	c.623G>A	c.(622-624)cGg>cAg	p.R208Q		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	208					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R208Q(2)|p.K207*(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CACCTGCCGCCGCTTCAGGTT	0.602000														176			10		0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201786359	201786359	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201786359C>T	uc021phi.1	+	28	5831	c.5484C>T	c.(5482-5484)ccC>ccT	p.P1828P	NAV1_uc001gwu.3_Silent_p.P1825P|NAV1_uc001gwx.3_Silent_p.P1434P	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1828					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCTCACCTCCCGAGGATAGGA	0.522000														86			25		0	0	1	0	0
TBX6	6911	broad.mit.edu	37	16	30100374	30100374	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:30100374G>A	uc010veh.2	-	3	571	c.511C>T	c.(511-513)Cgt>Tgt	p.R171C	BOLA2_uc010bzb.1_Intron|TBX6_uc002dwk.1_Missense_Mutation_p.R171C	NM_004608	NP_004599	O95947	TBX6_HUMAN	Homo sapiens T-box 6 (TBX6), mRNA.	171					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						ATGTAGACACGGTCAGGCAGG	0.632000														272			50		0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47307946	47307946	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:47307946T>G	uc004dhs.4	-	3	1416	c.1349A>C	c.(1348-1350)gAg>gCg	p.E450A	ZNF41_uc004dhu.4_Missense_Mutation_p.E442A|ZNF41_uc004dht.4_Missense_Mutation_p.E322A|ZNF41_uc004dhv.4_Missense_Mutation_p.E418A|ZNF41_uc004dhw.4_Missense_Mutation_p.E410A|ZNF41_uc004dhy.4_Missense_Mutation_p.E408A|ZNF41_uc004dhx.4_Missense_Mutation_p.E408A|ZNF41_uc011mlm.2_Missense_Mutation_p.E322A	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATAGTGTTTCTCTCCGGTATG	0.418000														122			38		0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910465	21910465	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:21910465G>A	uc002nqi.3	-	4	848	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ZNF100_uc002nqh.3_Missense_Mutation_p.L153F	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						AGGTGTAAAAGCATGCAAAAT	0.303000														64			10		0	0	1	0	0
FAM151A	338094	broad.mit.edu	37	1	55075382	55075382	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:55075382C>T	uc001cxn.3	-	7	1449	c.1317G>A	c.(1315-1317)tgG>tgA	p.W439*	ACOT11_uc001cxj.2_3'UTR|ACOT11_uc001cxl.2_3'UTR|ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	439						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CCCACACAGGCCAATGCAAGA	0.637000														105			26		0	0	1	0	0
GAB2	9846	broad.mit.edu	37	11	77937523	77937523	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:77937523G>A	uc001ozh.3	-	3	1297	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*	GAB2_uc001ozg.3_Nonsense_Mutation_p.R361*	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	399					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CGGTGAAGTCGGCTGTTGTCC	0.542000														206			30		0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19868151	19868151	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:19868151G>A	uc021wlj.1	-	12	1209	c.1176C>T	c.(1174-1176)taC>taT	p.Y392Y	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Silent_p.Y391Y|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Silent_p.Y42Y	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	392					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity	p.Y392C(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACATTGTCGTAGTCCATCA	0.622000														95			26		0	0	1	0	0
KLHL18	23276	broad.mit.edu	37	3	47371497	47371497	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47371497C>T	uc003crd.3	+	3	584	c.458C>T	c.(457-459)gCt>gTt	p.A153V	KLHL18_uc003crc.2_Missense_Mutation_p.A153V|KLHL18_uc011bav.2_Missense_Mutation_p.A41V|KLHL18_uc010hjq.2_Missense_Mutation_p.A4V	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	153	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		ATGATGTGTGCTGTGCTGTAC	0.493000														169			11		0	0	1	0	0
TOP3A	7156	broad.mit.edu	37	17	18181033	18181033	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:18181033T>C	uc002gsx.1	-	17	3012	c.2783A>G	c.(2782-2784)cAg>cGg	p.Q928R	TOP3A_uc010cpz.1_Missense_Mutation_p.Q380R|TOP3A_uc010vxr.1_Missense_Mutation_p.Q458R|TOP3A_uc002gsw.1_Missense_Mutation_p.Q380R|TOP3A_uc010vxs.1_Missense_Mutation_p.Q826R	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	928					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GCCACACTGCTGCTCTCTCGG	0.582000														224			33		0	0	1	0	0
LBH	81606	broad.mit.edu	37	2	30480460	30480460	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:30480460G>T	uc002rne.2	+	2	499	c.291G>T	c.(289-291)gaG>gaT	p.E97D		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	97					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					ACTGCGAAGAGACAGCGAAAG	0.547000														80			11		4.68919e-08	5.11014e-08	1	1	0
GPR137	56834	broad.mit.edu	37	11	64056115	64056115	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:64056115G>A	uc010rni.2	+	7	1155	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	GPR137_uc010rnj.2_Intron|GPR137_uc001nzf.3_Missense_Mutation_p.R268Q|GPR137_uc001nzi.3_Missense_Mutation_p.R318Q|GPR137_uc021qkt.1_Missense_Mutation_p.R318Q|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	318						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						TTTGCCTCTCGGTCCTACTTC	0.617000														39			8		0	0	1	0	0
TAF2	6873	broad.mit.edu	37	8	120803660	120803660	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:120803660A>G	uc003you.3	-	10	1587	c.1317T>C	c.(1315-1317)caT>caC	p.H439H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	439					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGACAGTGTATGTGGATGCT	0.323000														46			8		0	0	1	0	0
SLC22A4	6583	broad.mit.edu	37	5	131667484	131667484	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:131667484T>G	uc003kwq.3	+	5	1152	c.987T>G	c.(985-987)atT>atG	p.I329M	LOC553103_uc021ydj.1_Intron	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	329					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	AAGCTTTCATTCTGGACCTGT	0.398000														156			30		0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41075627	41075627	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:41075627G>A	uc004dfb.3	+	34	6440	c.5807G>A	c.(5806-5808)cGt>cAt	p.R1936H	USP9X_uc004dfc.3_Missense_Mutation_p.R1936H	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1936					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGATGAAGCGTATGTCATAC	0.373000														163			43		0	0	1	0	0
RSPH4A	345895	broad.mit.edu	37	6	116938420	116938420	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:116938420C>T	uc003pxe.2	+	0	779	c.634C>T	c.(634-636)Cag>Tag	p.Q212*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.Q212*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	212					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCACCATTCAGAATGCTAA	0.478000									Kartagener syndrome					214			44		0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6477726	6477726	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:6477726G>A	uc001mdh.3	-	6	1626	c.1230C>T	c.(1228-1230)cgC>cgT	p.R410R	TRIM3_uc001mdi.3_Silent_p.R410R|TRIM3_uc010raj.2_Silent_p.R291R|TRIM3_uc009yfd.3_Silent_p.R410R|TRIM3_uc010rak.1_Silent_p.R410R|TRIM3_uc001mdj.2_Silent_p.R291R	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	410					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.R410L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGGCTGCCGCGCACTGGCT	0.677000														82			16		0	0	1	0	0
TNP2	7142	broad.mit.edu	37	16	11362939	11362939	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:11362939C>A	uc002das.3	-	0	222	c.181G>T	c.(181-183)Gga>Tga	p.G61*	RMI2_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	Homo sapiens transition protein 2 (during histone to protamine replacement) (TNP2), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding	p.0?(1)		large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGTGGGCTCCAGTTGGGTTG	0.617000														440			103		7.30829e-53	9.33095e-53	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238249523	238249523	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:238249523C>T	uc002vwl.2	-	37	8321	c.8036G>A	c.(8035-8037)aGc>aAc	p.S2679N	COL6A3_uc002vwo.2_Missense_Mutation_p.S2473N|COL6A3_uc010znj.1_Missense_Mutation_p.S2072N|COL6A3_uc002vwj.2_Missense_Mutation_p.S60N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2679	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)		AGGTGGCATGCTGGCATTGTC	0.582000														136			26		0	0	1	0	0
KCNK18	338567	broad.mit.edu	37	10	118960693	118960693	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:118960693C>T	uc010qsr.2	+	1	247	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	83						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AAAACAGGATCTCCAGGGGCA	0.517000														278			63		0	0	1	0	0
LOC642846	642846	broad.mit.edu	37	12	9463753	9463753	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:9463753G>A	uc001qvp.2	+	11		c.979G>A			LOC642846_uc010sgp.1_Non-coding_Transcript					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11-like (LOC642846), non-coding RNA.																		GAGGTGGGTCGCATCCTCTGT	0.587000														106			22		0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044479	89044479	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:89044479A>G	uc001xww.3	+	8	1499	c.1274A>G	c.(1273-1275)aAt>aGt	p.N425S	ZC3H14_uc010twd.2_Missense_Mutation_p.N425S|ZC3H14_uc010twe.2_Missense_Mutation_p.N425S|ZC3H14_uc001xwx.3_Missense_Mutation_p.N425S|ZC3H14_uc010twf.2_Missense_Mutation_p.N270S|ZC3H14_uc001xwy.3_Missense_Mutation_p.N391S|ZC3H14_uc010twg.2_Missense_Mutation_p.N270S|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	425						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GTAGAAAAAAATCAAGGTAAT	0.343000														67			7		0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74273825	74273825	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:74273825G>A	uc002skb.4	+	0	376	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	TET3_uc010fez.2_Missense_Mutation_p.A126T	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	126							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GACGGCCCTGGCCCTCGCGCG	0.627000														176			69		0	0	1	0	0
IPO4	79711	broad.mit.edu	37	14	24652349	24652349	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:24652349C>T	uc001wmv.1	-	22	3275	c.2254G>A	c.(2254-2256)Gtg>Atg	p.V752M	IPO4_uc001wmt.1_Missense_Mutation_p.V230M|IPO4_uc001wmu.2_Missense_Mutation_p.V414M|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Missense_Mutation_p.V616M|IPO4_uc001wmy.1_Missense_Mutation_p.V616M|IPO4_uc001wmz.2_Missense_Mutation_p.V752M	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	752					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.V752V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TAGGATGGCACGACTCGGGCC	0.662000														156			37		0	0	1	0	0
C9orf172	389813	broad.mit.edu	37	9	139740881	139740881	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139740881G>A	uc011meh.2	+	0	2015	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	PHPT1_uc011mei.2_5'Flank|PHPT1_uc004cjq.4_5'Flank	NM_001080482	NP_001073951	C9J069	CI172_HUMAN	Homo sapiens chromosome 9 open reading frame 172 (C9orf172), mRNA.	672										endometrium(2)|large_intestine(1)|lung(6)	9						CGCTGCCGGCGCACCGAGACC	0.701000														93			23		0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39087996	39087996	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39087996C>T	uc002oix.1	-	23	1915	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	MAP4K1_uc002oiy.1_Missense_Mutation_p.D603N|MAP4K1_uc010xug.2_3'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	603	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCTTTGGTGTCCTGGATCTTG	0.592000														484			89		0	0	1	0	0
FBXO5	26271	broad.mit.edu	37	6	153296711	153296711	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:153296711T>C	uc003qpg.3	-	1	258	c.149A>G	c.(148-150)gAt>gGt	p.D50G	FBXO5_uc003qph.3_Missense_Mutation_p.D4G	NM_012177	NP_001135994	Q9UKT4	FBX5_HUMAN	Homo sapiens F-box protein 5 (FBXO5), transcript variant 1, mRNA.	50					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		ACAATTAAAATCACACTTCAT	0.353000														89			18		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860621	26860621	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:26860621G>A	uc003acl.3	-	10	1634	c.975C>T	c.(973-975)aaC>aaT	p.N325N	HPS4_uc003aci.3_Silent_p.N320N|HPS4_uc003acj.3_Silent_p.N189N|HPS4_uc003ack.3_Silent_p.N116N|HPS4_uc003acn.3_Silent_p.N171N|HPS4_uc010gvd.1_Silent_p.N343N|HPS4_uc003ach.3_Silent_p.N60N	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	325					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ACAAGCATCCGTTCTCCTTCC	0.597000									Hermansky-Pudlak syndrome					150			36		0	0	1	0	0
AMBP	259	broad.mit.edu	37	9	116823712	116823712	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:116823712C>T	uc004bie.4	-	7	1108	c.845G>A	c.(844-846)cGa>cAa	p.R282Q	AMBP_uc011lxk.2_Missense_Mutation_p.R223Q|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	282					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ACCCACAGTTCGGCAGGTCTG	0.547000														199			31		0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29888137	29888137	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29888137C>T	uc010vec.2	-	11	2289	c.2044G>A	c.(2044-2046)Gac>Aac	p.D682N	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.D612N|SEZ6L2_uc002dur.4_Missense_Mutation_p.D612N|SEZ6L2_uc002duq.4_Missense_Mutation_p.D682N|SEZ6L2_uc010ved.2_Missense_Mutation_p.D638N|SEZ6L2_uc002dus.4_Missense_Mutation_p.D568N	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	682	Sushi 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTGAGAATGTCGGAGCCTAGC	0.701000														36			7		0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28542469	28542469	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:28542469C>T	uc003nlo.3	-	2	2631	c.2013G>A	c.(2011-2013)atG>atA	p.M671I		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	671					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGGCTTTAGCATTTTGGAAG	0.418000														191			34		0	0	1	0	0
DDHD2	23259	broad.mit.edu	37	8	38103326	38103326	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38103326G>A	uc003xlc.3	+	7	1115	c.915G>A	c.(913-915)ctG>ctA	p.L305L	DDHD2_uc003xlb.3_Silent_p.L305L|DDHD2_uc011lbl.1_Silent_p.L117L|DDHD2_uc003xld.3_5'Flank	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	305					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			ACACAATTCTGGATGTCTTCT	0.423000														184			40		0	0	1	0	0
SLC17A3	10786	broad.mit.edu	37	6	25862211	25862211	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:25862211C>T	uc003nfk.4	-	3	460	c.350G>A	c.(349-351)gGt>gAt	p.G117D	SLC17A3_uc003nfi.4_Intron|SLC17A3_uc011djz.1_Missense_Mutation_p.G117D|SLC17A3_uc011dka.1_Intron	NM_001098486	NP_001091956	O00476	NPT4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 3 (SLC17A3), transcript variant 1, mRNA.	0					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACAGCACCAAAGATGAT	0.448000														24			6		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89167414	89167414	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89167414G>A	uc010cig.2	+	1	533	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	ACSF3_uc010cih.2_Intron|ACSF3_uc002fmp.3_Missense_Mutation_p.V109I|ACSF3_uc021tmq.1_Missense_Mutation_p.V109I|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	109					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGCCTCCTACGTCGTGGCCCA	0.647000														73			8		0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	4286138	4286138	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:4286138C>T	uc003zhx.1	-	1	1001	c.288G>A	c.(286-288)ccG>ccA	p.P96P	GLIS3_uc003zic.1_Silent_p.P96P|GLIS3_uc003zie.1_Silent_p.P96P|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.P96P	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	328	Ser-rich.				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)		CCTGGAATCGCGGCTTCCCAT	0.557000														204			32		0	0	1	0	0
ARPC2	10109	broad.mit.edu	37	2	219099092	219099092	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219099092C>T	uc002vhd.3	+	4	352	c.240C>T	c.(238-240)taC>taT	p.Y80Y	ARPC2_uc002vhe.3_Silent_p.Y80Y|ARPC2_uc002vhf.3_5'Flank	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	80					cellular component movement	Arp2/3 protein complex|Golgi apparatus|cell projection	actin binding|structural constituent of cytoskeleton			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		AGAGGGTGTACGGGAGTTTCT	0.328000														98			33		0	0	1	0	0
LONP1	9361	broad.mit.edu	37	19	5714234	5714234	+	Missense_Mutation	SNP	C	T	T	rs148374055	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:5714234C>T	uc002mcx.3	-	1	511	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	LONP1_uc002mcy.3_Missense_Mutation_p.A96T|LONP1_uc010duh.3_5'UTR|LONP1_uc010dui.3_Missense_Mutation_p.A160T|LONP1_uc002mcz.3_5'UTR	NM_004793	NP_004784	P36776	LONM_HUMAN	Homo sapiens lon peptidase 1, mitochondrial (LONP1), nuclear gene encoding mitochondrial protein, mRNA.	160	Lon.				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAAGGCTGGGCGAGACGAACT	0.438000														155			44		0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108818260	108818260	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:108818260G>A	uc003dxl.3	-	5	455	c.368C>T	c.(367-369)aCg>aTg	p.T123M	MORC1_uc011bhn.2_Missense_Mutation_p.T123M	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	123					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGGTCATCGTTTCTTCCTT	0.343000														50			12		0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37462993	37462993	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:37462993C>A	uc003aqt.1	-	17	2251	c.2189G>T	c.(2188-2190)aGc>aTc	p.S730I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.S717I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	717	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGAGCGTTGCTGATGGGGCC	0.562000														92			16		1.99824e-07	2.15697e-07	1	1	0
PRSS21	10942	broad.mit.edu	37	16	2867430	2867430	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2867430G>A	uc002crt.3	+	2	171	c.65_splice	c.e2-1	p.E22_splice	PRSS21_uc002crr.3_Splice_Site_p.E22_splice|PRSS21_uc002crs.3_Splice_Site_p.E22_splice	NM_006799	NP_006790	Q9Y6M0	TEST_HUMAN	Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA.	22					proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						GTCTCCCGCAGAGTCGCAGGA	0.741000														62			8		0	0	1	0	0
RIMKLB	57494	broad.mit.edu	37	12	8926260	8926260	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:8926260T>G	uc001qux.2	+	6	2303	c.1041T>G	c.(1039-1041)agT>agG	p.S347R	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_Missense_Mutation_p.S347R|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	347					protein modification process	cytoplasm	ATP binding|acid-amino acid ligase activity|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGAGTGCAAGTTCCAGCTCTG	0.587000														230			54		0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39516062	39516062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:39516062G>A	uc002okh.3	-	5	923	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	281					protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	p.R281H(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGGACAGACGGACTCGCACG	0.587000														181			32		0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654596	159654596	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:159654596G>A	uc010kjv.3	+	10	3252	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	FNDC1_uc010kjw.1_Missense_Mutation_p.G903R	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1018						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCACCACCCGGGACCCCAGAG	0.721000														29			8		0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6751138	6751138	+	Missense_Mutation	SNP	A	C	C	rs3210156		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6751138A>C	uc002mfs.3	+	14	1788	c.1722A>C	c.(1720-1722)aaA>aaC	p.K574N	TRIP10_uc010dux.2_Missense_Mutation_p.K528T|TRIP10_uc002mfr.3_Missense_Mutation_p.K518N|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	574	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AAGAAGACAAAGGGGACGGCT	0.617000														189			41		0	0	1	0	0
SASH1	23328	broad.mit.edu	37	6	148808758	148808758	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:148808758A>G	uc003qme.1	+	7	1111	c.636A>G	c.(634-636)gaA>gaG	p.E212E		NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	212							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AGCTCAAGGAATACGAGGCCC	0.483000														213			36		0	0	1	0	0
TCF19	6941	broad.mit.edu	37	6	31130430	31130430	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31130430G>T	uc003nss.3	+	3	1498	c.974G>T	c.(973-975)aGc>aTc	p.S325I	TCF19_uc003nst.3_Missense_Mutation_p.S325I	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	325					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTTGGCTGCAGCATCCAGGCT	0.627000														128			30		1.88708e-17	2.26542e-17	1	1	0
NEBL	10529	broad.mit.edu	37	10	21178809	21178809	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21178809T>G	uc001iqi.3	-	2	620	c.223A>C	c.(223-225)Aac>Cac	p.N75H	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.	75				N -> T (in Ref. 2; AAF24858).	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						TTTACATGGTTTAGCATAGGA	0.313000														62			14		0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836210	247836210	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247836210G>T	uc001idi.1	-	0	134	c.134C>A	c.(133-135)gCc>gAc	p.A45D		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATAGATTTTGGCAATGATGAT	0.438000														106			17		9.16793e-09	1.00855e-08	1	1	0
IRX2	153572	broad.mit.edu	37	5	2749548	2749548	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:2749548G>A	uc003jda.3	-	1	845	c.603C>T	c.(601-603)gaC>gaT	p.D201D	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D201D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	201						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGACTCTCGTCCTTGCTTC	0.652000														133			29		0	0	1	0	0
DERL3	91319	broad.mit.edu	37	22	24179333	24179333	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24179333C>T	uc002zyk.4	-	5	557	c.532G>A	c.(532-534)Gtg>Atg	p.V178M	DERL3_uc002zyh.3_Missense_Mutation_p.V178M|DERL3_uc002zyi.3_Missense_Mutation_p.V178M|DERL3_uc002zyj.3_Missense_Mutation_p.G134D|DERL3_uc021wmv.1_5'Flank	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	178					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						ATATGGCCCACCGCAATCCCT	0.627000														82			6		0	0	1	0	0
KIAA0895	23366	broad.mit.edu	37	7	36373480	36373480	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36373480C>A	uc003tfd.2	-	4	1342	c.1291G>T	c.(1291-1293)Gat>Tat	p.D431Y	KIAA0895_uc003tfc.2_Missense_Mutation_p.D418Y|KIAA0895_uc011kax.1_Missense_Mutation_p.D428Y|KIAA0895_uc003tfb.2_Missense_Mutation_p.D380Y|KIAA0895_uc011kaw.2_Missense_Mutation_p.D328Y	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN	Homo sapiens KIAA0895 (KIAA0895), transcript variant 1, mRNA.	431										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGAAGTATCAGTCCATCCC	0.413000														124			9		1.12685e-05	1.18529e-05	1	1	0
ASPM	259266	broad.mit.edu	37	1	197074013	197074013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197074013C>T	uc001gtu.3	-	17	4625	c.4368G>A	c.(4366-4368)tgG>tgA	p.W1456*	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1456					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTTAAATGCCATTCTCTAA	0.284000														52			8		0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226589969	226589969	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:226589969G>A	uc001hqd.4	-	1	403	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	78					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCATCCCACCGAAGCTCAGAG	0.567000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						138			19		0	0	1	0	0
C2orf63	130162	broad.mit.edu	37	2	55407780	55407780	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:55407780G>A	uc002ryi.2	-	10	1596	c.1250C>T	c.(1249-1251)gCc>gTc	p.A417V	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Missense_Mutation_p.A295V	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	417							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			CAGGCACTTGGCCTTGTTATA	0.433000														127			20		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235972089	235972089	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235972089T>C	uc001hxj.2	-	4	2204	c.2029A>G	c.(2029-2031)Atc>Gtc	p.I677V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.I677V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	677					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGGGCAGGATCCCTTGAAAT	0.408000														82			12		0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103414328	103414328	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:103414328G>A	uc010fjb.3	+	3	525	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TMEM182_uc002tcc.4_Missense_Mutation_p.R70H|TMEM182_uc002tcd.4_Missense_Mutation_p.R17H|TMEM182_uc010ywe.2_Non-coding_Transcript	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	113						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						CCAGTTTACCGTGGTTTCTGG	0.463000														103			39		0	0	1	0	0
GLCCI1	113263	broad.mit.edu	37	7	8043574	8043574	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:8043574G>A	uc003srk.3	+	1	1053	c.494G>A	c.(493-495)aGt>aAt	p.S165N		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	165										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		CGGACCTCTAGTACAATAAGG	0.393000														112			12		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34529730	34529730	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:34529730G>A	uc001zhw.3	-	20	2988	c.2824C>T	c.(2824-2826)Cgg>Tgg	p.R942W	SLC12A6_uc001zhv.3_Missense_Mutation_p.R891W|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.R927W|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Missense_Mutation_p.R883W|SLC12A6_uc001zib.3_Missense_Mutation_p.R933W|SLC12A6_uc001zic.3_Missense_Mutation_p.R942W|SLC12A6_uc010bau.3_Missense_Mutation_p.R942W|SLC12A6_uc001zid.3_Missense_Mutation_p.R883W|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Missense_Mutation_p.R754W	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	942					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GTGAAGATCCGTATGCTGCAC	0.428000														92			22		0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168244398	168244398	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:168244398G>A	uc010jjg.3	-	7	1120	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	SLIT3_uc003mab.3_Missense_Mutation_p.R234W|SLIT3_uc010jji.2_Missense_Mutation_p.R234W|SLIT3_uc003mac.1_Missense_Mutation_p.R31W	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	234	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACTGTCCGTCGCTGTCGC	0.612000														122			22		0	0	1	0	0
DPY19L3	147991	broad.mit.edu	37	19	32954831	32954831	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:32954831G>A	uc002ntg.3	+	13	1700	c.1502G>A	c.(1501-1503)aGc>aAc	p.S501N	DPY19L3_uc002nth.2_Missense_Mutation_p.S501N|DPY19L3_uc002nti.2_Non-coding_Transcript	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	501						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					GGCCTATGTAGCCCTGAAATA	0.438000														198			43		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163471	167163471	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:167163471T>C	uc010fpl.3	-	2	713	c.372A>G	c.(370-372)gtA>gtG	p.V124V	SCN9A_uc002udr.1_5'Flank|SCN9A_uc002uds.1_5'Flank|SCN9A_uc002udt.1_5'Flank	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	124						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATATGAGTGTACTAAAATCT	0.313000														15			8		0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71646310	71646310	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:71646310G>T	uc003xyq.3	+	4	1307	c.773G>T	c.(772-774)aGt>aTt	p.S258I	XKR9_uc010lzd.3_Missense_Mutation_p.S126I|XKR9_uc010lze.3_Missense_Mutation_p.S258I	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	258						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			ACTTGTATAAGTATGGAATTC	0.274000														41			10		2.17888e-05	2.28139e-05	1	1	0
ZNF676	163223	broad.mit.edu	37	19	22363338	22363338	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:22363338T>G	uc002nqs.1	-	2	1499	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTCTTCACATTTGTAGGGCTT	0.423000														135			18		0	0	1	0	0
EFTUD2	9343	broad.mit.edu	37	17	42957999	42957999	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42957999A>G	uc002ihn.2	-	7	803	c.542T>C	c.(541-543)aTc>aCc	p.I181T	EFTUD2_uc010wje.1_Missense_Mutation_p.I146T|EFTUD2_uc010wjf.1_Missense_Mutation_p.I171T	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	181						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGTGCTTTTGATGCCTACACC	0.443000														93			30		0	0	1	0	0
AGFG1	3267	broad.mit.edu	37	2	228401620	228401620	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228401620C>T	uc002vpc.2	+	9	1539	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	AGFG1_uc002vpd.2_Missense_Mutation_p.T454M|AGFG1_uc002vpe.2_Missense_Mutation_p.T430M|AGFG1_uc002vpf.2_Missense_Mutation_p.T390M	NM_004504	NP_004495	P52594	AGFG1_HUMAN	Homo sapiens ArfGAP with FG repeats 1 (AGFG1), transcript variant 2, mRNA.	430					cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	Golgi apparatus|cytoplasmic membrane-bounded vesicle|nuclear pore	ARF GTPase activator activity|DNA binding|RNA binding|protein binding|zinc ion binding	p.A429G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTTAAAGCTACGCCTTCCACA	0.333000														89			13		0	0	1	0	0
C14orf149	112849	broad.mit.edu	37	14	59942594	59942594	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:59942594G>T	uc001xee.1	-	3	971	c.932C>A	c.(931-933)gCt>gAt	p.A311D		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	311							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	TACCCTCACAGCTTTCCCTGT	0.458000														105			29		1.75199e-13	2.04201e-13	1	1	0
CASP1	834	broad.mit.edu	37	11	104900402	104900402	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:104900402G>T	uc001pim.4	-	5	852	c.852C>A	c.(850-852)gcC>gcA	p.A284A	CASP1_uc001pig.3_Silent_p.A191A|CASP1_uc021qpq.1_Silent_p.A263A|CASP1_uc021qpr.1_Silent_p.A191A|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Silent_p.A284A|CASP1_uc021qpt.1_Silent_p.A191A|CASP1_uc010rve.2_Silent_p.A284A|CASP1_uc010rvf.2_Silent_p.A191A|CASP1_uc010rvg.2_Silent_p.A263A|CASP1_uc010rvh.2_Silent_p.A191A|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Silent_p.A263A|CASP1_uc021qpu.1_Silent_p.A191A|CASP1_uc021qpv.1_Silent_p.A263A|CASP1_uc021qpw.1_Silent_p.A191A|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Silent_p.A284A|CASP1_uc009yxj.3_Silent_p.A129A|CASP1_uc010rvk.2_Silent_p.A245A	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	284					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCACGGCAGGCCTGGATGA	0.418000														97			10		3.86212e-05	4.026e-05	1	1	0
CARD9	64170	broad.mit.edu	37	9	139264220	139264220	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139264220G>A	uc022bpp.1	-	6	1225	c.1059C>T	c.(1057-1059)gtC>gtT	p.V353V	CARD9_uc004chg.3_Silent_p.V353V|CARD9_uc022bpo.1_Silent_p.V353V|CARD9_uc011mdx.1_Silent_p.V249V	NM_052814	NP_434701	Q9H257	CARD9_HUMAN	Homo sapiens caspase recruitment domain family, member 9 (CARD9), transcript variant 2, mRNA.	353					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GCTCAATGGCGACCTCCTCCA	0.627000														38			6		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127622437	127622437	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:127622437G>A	uc003kuu.3	-	54	7424	c.6985C>T	c.(6985-6987)Cga>Tga	p.R2329*		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2329	EGF-like 39; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.R2329Q(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCGGGCCTTCGGGCCATTCCA	0.517000														88			18		0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52619913	52619913	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52619913C>A	uc002pym.3	-	3	787	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TATTACCTGTCTTCTCCGTTT	0.373000														153			15		1.05317e-09	1.17384e-09	1	1	0
QSOX1	5768	broad.mit.edu	37	1	180155237	180155237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:180155237C>T	uc001gnz.3	+	7	1012	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	QSOX1_uc001gny.3_Missense_Mutation_p.R313W	NM_002826	NP_002817	O00391	QSOX1_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA.	313					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity	p.R313W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTACATCCTGCGGATAGAAGT	0.557000														140			17		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78933943	78933943	+	Silent	SNP	C	T	T	rs138030342		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78933943C>T	uc002jyt.1	+	29	4348	c.3543C>T	c.(3541-3543)atC>atT	p.I1181I	RPTOR_uc010wug.1_Silent_p.I1023I|RPTOR_uc002jyu.1_Silent_p.I74I	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	1181					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						GCTCACTCATCGTGGCTGGCC	0.622000														161			20		0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237952	132237952	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:132237952G>A	uc002tsu.4	+	3	879	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		AACCTCAATCGCCTGATTGGG	0.527000														270			12		0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277186	135277186	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135277186G>T	uc004cbl.3	-	1	1092	c.1023C>A	c.(1021-1023)caC>caA	p.H341Q	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	341					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CAAATTCCTGGTGATTGGACT	0.507000														239			40		8.16277e-20	9.93979e-20	1	1	0
FAM78A	286336	broad.mit.edu	37	9	134151457	134151457	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:134151457C>T	uc004cak.3	-	0	450	c.110G>A	c.(109-111)gGg>gAg	p.G37E		NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	37										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		CACCGTGATCCCTTCCCGGAA	0.582000														84			19		0	0	1	0	0
GPA33	10223	broad.mit.edu	37	1	167023611	167023611	+	Missense_Mutation	SNP	C	A	A	rs146470813		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:167023611C>A	uc001gea.1	-	6	1264	c.920G>T	c.(919-921)aGg>aTg	p.R307M		NM_005814	NP_005805	Q99795	GPA33_HUMAN	Homo sapiens glycoprotein A33 (transmembrane) (GPA33), mRNA.	307						integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCAGTGCTCCTCTGCTCTTC	0.612000														200			58		7.50695e-29	9.43174e-29	1	1	0
EPC1	80314	broad.mit.edu	37	10	32560597	32560597	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:32560597G>A	uc001iwg.1	-	13	2593	c.2323C>T	c.(2323-2325)Cga>Tga	p.R775*	EPC1_uc001iwi.3_Nonsense_Mutation_p.R702*|EPC1_uc001iwh.1_Nonsense_Mutation_p.R752*	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	775					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GGTATATGTCGTGCATTTATT	0.443000														230			51		0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98518306	98518306	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:98518306G>A	uc003dte.3	-	15	2643	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	DCBLD2_uc003dtd.3_Silent_p.D746D	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	746					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane		p.D746D(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAATTCGTCTGGGGCAG	0.502000														332			70		0	0	1	0	0
MFSD2B	388931	broad.mit.edu	37	2	24236237	24236237	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24236237C>A	uc002reo.2	+	1	193	c.179C>A	c.(178-180)gCc>gAc	p.A60D	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	60					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCCTCCAGCGCCACAGCCTTT	0.557000														27			13		2.27111e-07	2.44751e-07	1	1	0
PPARGC1A	10891	broad.mit.edu	37	4	23833186	23833186	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:23833186C>T	uc003gqs.3	-	2	543	c.423G>A	c.(421-423)ccG>ccA	p.P141P	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	141					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTACTAGAGACGGCTCTTCTG	0.517000														213			39		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108246	168108246	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168108246C>T	uc002udx.3	+	8	10433	c.10344C>T	c.(10342-10344)ggC>ggT	p.G3448G	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.G3273G|XIRP2_uc010fpq.3_Silent_p.G3226G|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3273					actin cytoskeleton organization	cell junction	actin binding			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						GCAAATCTGGCTGTGACTTCA	0.388000														82			26		0	0	1	0	0
KCNS3	3790	broad.mit.edu	37	2	18113720	18113720	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:18113720C>T	uc021veh.1	+	0	1445	c.1445C>T	c.(1444-1446)aCc>aTc	p.T482I	KCNS3_uc002rcv.3_Missense_Mutation_p.T482I|KCNS3_uc002rcw.3_Missense_Mutation_p.T482I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	482					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATTTGTAACACCACCTCCTTG	0.453000														113			39		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72992964	72992964	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:72992964C>T	uc002fck.3	-	1	1754	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	361					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AAACTGTGTCCGGGGCCTATG	0.517000														219			84		0	0	1	0	0
LTA4H	4048	broad.mit.edu	37	12	96412579	96412579	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:96412579C>A	uc001ten.1	-	7	882	c.814G>T	c.(814-816)Gag>Tag	p.E272*	LTA4H_uc010suy.1_Nonsense_Mutation_p.E234*|LTA4H_uc010suz.1_Nonsense_Mutation_p.E234*|LTA4H_uc010sva.1_Non-coding_Transcript	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	272	Substrate binding.				hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						CAAGGATTCTCCATGCCACCA	0.398000														51			16		3.32936e-07	3.57961e-07	1	1	0
FAM22A	728118	broad.mit.edu	37	10	88988216	88988216	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88988216C>T	uc001kek.3	+	1	962	c.579C>T	c.(577-579)tgC>tgT	p.C193C	LOC728190_uc009xtc.2_Intron|LOC728190_uc009xtd.2_Intron	NM_001099338	NP_001092808	Q8IVF1	FA22A_HUMAN	Homo sapiens family with sequence similarity 22, member A (FAM22A), mRNA.	193																	AGGATGGCTGCGGCCCGAGTG	0.657000			T	YWHAE	edometrial stromal sarcoma									303			20		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139873509	139873509	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139873509C>T	uc004cke.3	+	1	1209	c.179C>T	c.(178-180)gCg>gTg	p.A60V	PTGDS_uc004ckd.3_Non-coding_Transcript	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	60					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAGAAGAAGGCGGCGTTGTCC	0.687000														148			29		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012709	59012709	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:59012709C>T	uc002qtc.2	-	3	1236	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	376					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		ATCACTGTCACGCCATGCTGC	0.557000														176			47		0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154179551	154179551	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:154179551G>A	uc003lvo.3	+	9	1458	c.1434G>A	c.(1432-1434)gaG>gaA	p.E478E	LARP1_uc021ygh.1_Silent_p.E350E|LARP1_uc021ygi.1_Silent_p.E555E|LARP1_uc010jie.1_Silent_p.E350E	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	555	HTH La-type RNA-binding.						RNA binding|protein binding	p.E555D(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGATTCTGAGAACTGGATTG	0.582000														76			20		0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57487215	57487215	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57487215G>A	uc001smz.3	+	5	1680	c.1302G>A	c.(1300-1302)acG>acA	p.T434T		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	434					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CAAGGCTGACGCCGCCCCCTG	0.652000														31			8		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31087864	31087864	+	Silent	SNP	C	T	T	rs141568956	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31087864C>T	uc002eap.3	+	1	508	c.219C>T	c.(217-219)ggC>ggT	p.G73G	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Silent_p.G73G	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACGAGACTGGCCTTTTCCCCT	0.627000														137			36		0	0	1	0	0
HR	55806	broad.mit.edu	37	8	21985060	21985060	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:21985060C>T	uc003xas.3	-	2	1560	c.895G>A	c.(895-897)Gat>Aat	p.D299N	HR_uc003xat.3_Missense_Mutation_p.D299N	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	299							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTTCCCATCGCCTGGCCCA	0.657000														141			32		0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354262	98354262	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:98354262G>A	uc002syd.1	+	11	1732	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	ZAP70_uc002sye.1_Missense_Mutation_p.E399K|ZAP70_uc002syf.1_Missense_Mutation_p.E202K	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	509	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GTACGCACCCGAATGCATCAA	0.637000														384			62		0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156437841	156437841	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156437841C>T	uc001fpc.3	-	10	1888	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	MEF2D_uc001fpb.3_Missense_Mutation_p.A493T|MEF2D_uc001fpd.3_Missense_Mutation_p.A493T|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.A500T	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	500					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTCTGGGGCTGGGCGCAGC	0.647000														226			11		0	0	1	0	0
SULT2A1	6822	broad.mit.edu	37	19	48382317	48382317	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48382317T>C	uc002phr.2	-	3	683	c.543A>G	c.(541-543)ttA>ttG	p.L181L		NM_003167	NP_003158	Q06520	ST2A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA.	181					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		CATAACTCAGTAACAGGAAGT	0.463000														234			57		0	0	1	0	0
CCDC40	55036	broad.mit.edu	37	17	78032413	78032413	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78032413C>T	uc010dht.3	+	7	1311	c.1280C>T	c.(1279-1281)aCg>aTg	p.T427M	CCDC40_uc010wub.2_Missense_Mutation_p.T427M|CCDC40_uc021uem.1_Missense_Mutation_p.T427M|CCDC40_uc002jxm.4_Missense_Mutation_p.T210M	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	427					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AAGGCCGAGACGGAGAGGATC	0.502000														94			18		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848830	73848830	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:73848830C>T	uc003xzb.3	+	2	1828	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	414					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTTCCTATCCCAATTATTGT	0.443000														129			30		0	0	1	0	0
SLC13A3	64849	broad.mit.edu	37	20	45192140	45192140	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45192140G>A	uc002xsf.2	-	11	1585	c.1545C>T	c.(1543-1545)gtC>gtT	p.V515V	SLC13A3_uc010ghn.2_Silent_p.V484V|SLC13A3_uc010zxx.2_Silent_p.V417V|SLC13A3_uc010zxw.2_Silent_p.V465V|SLC13A3_uc002xsg.2_Silent_p.V468V|SLC13A3_uc010gho.2_Silent_p.V433V|SLC13A3_uc002xse.2_Silent_p.V6V|SLC13A3_uc010ghm.2_Silent_p.V102V|SLC13A3_uc010zxv.2_Silent_p.V100V	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	515						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGGAGCAGCCGACTGTGCCCG	0.612000														69			21		0	0	1	0	0
UBXN2A	165324	broad.mit.edu	37	2	24194191	24194191	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24194191A>G	uc010exy.3	+	3	555	c.87A>G	c.(85-87)caA>caG	p.Q29Q	UBXN2A_uc002rem.3_Non-coding_Transcript|UBXN2A_uc002ren.3_Silent_p.Q29Q|UBXN2A_uc010ykj.2_Silent_p.Q29Q	NM_181713	NP_859064	P68543	UBX2A_HUMAN	Homo sapiens UBX domain protein 2A (UBXN2A), mRNA.	29										endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						GTAATAATCAACAATCAAATT	0.333000														85			34		0	0	1	0	0
FRMD4A	55691	broad.mit.edu	37	10	13699468	13699468	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13699468G>A	uc001ims.3	-	21	2473	c.2121C>T	c.(2119-2121)caC>caT	p.H707H	FRMD4A_uc009xjf.1_Silent_p.H707H	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	707	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TGGAGCTCCGGTGCCTAAAGT	0.682000														94			5		0	0	1	0	0
LETM1	3954	broad.mit.edu	37	4	1824770	1824770	+	Missense_Mutation	SNP	G	A	A	rs139115587		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1824770G>A	uc003gdv.3	-	8	1718	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	474					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CTGGATGGCCGCCTCCTCCTG	0.657000														178			59		0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36926743	36926743	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36926743C>T	uc002hqs.3	-	8	1597	c.1116G>A	c.(1114-1116)acG>acA	p.T372T		NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	372	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TATCGTATGGCGTGAGGATAT	0.547000														239			21		0	0	1	0	0
FLVCR1	28982	broad.mit.edu	37	1	213032418	213032418	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:213032418C>T	uc001hjt.3	+	0	822	c.624C>T	c.(622-624)tgC>tgT	p.C208C	FLVCR1-AS1_uc001hjr.4_5'Flank|FLVCR1-AS1_uc001hjs.4_5'Flank	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor 1 (FLVCR1), mRNA.	208					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TGGGCCAGTGCTTGTGCTCGG	0.642000														136			36		0	0	1	0	0
HECTD1	25831	broad.mit.edu	37	14	31618318	31618318	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:31618318A>G	uc001wrc.1	-	13	2693	c.2204T>C	c.(2203-2205)gTa>gCa	p.V735A	HECTD1_uc001wrd.1_Missense_Mutation_p.V250A	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGATGGCTTTACTTGGCCTCG	0.363000														51			13		0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29779902	29779902	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:29779902G>A	uc001iut.1	-	21	4819	c.4066C>T	c.(4066-4068)Cgc>Tgc	p.R1356C	SVIL_uc010qdw.1_Missense_Mutation_p.R270C|SVIL_uc001iuu.1_Missense_Mutation_p.R930C|SVIL_uc009xlc.2_Missense_Mutation_p.R148C	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1356					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGAACCCGGCGCTTGGGCCTA	0.572000														82			22		0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46800054	46800054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:46800054G>A	uc001ndi.2	-	20	2655	c.2529C>T	c.(2527-2529)gaC>gaT	p.D843D	CKAP5_uc009ylg.1_Silent_p.D729D|CKAP5_uc001ndj.2_Silent_p.D843D	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	843					G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CATTGCTCCCGTCATCTGGTT	0.438000														162			31		0	0	1	0	0
GFRA3	2676	broad.mit.edu	37	5	137588741	137588741	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:137588741T>G	uc003lcn.3	-	7	1259	c.1119A>C	c.(1117-1119)gaA>gaC	p.E373D	GFRA3_uc003lco.3_Missense_Mutation_p.E342D	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	373					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGCAGGGTTTTCATTCTGTG	0.537000														44			13		0	0	1	0	0
ASIC4	55515	broad.mit.edu	37	2	220379804	220379804	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:220379804A>G	uc002vlz.3	+	0	913	c.739A>G	c.(739-741)Atc>Gtc	p.I247V	ASIC4_uc010fwi.2_Missense_Mutation_p.I247V|ASIC4_uc010fwj.2_Missense_Mutation_p.I247V|ASIC4_uc002vly.2_Missense_Mutation_p.I247V|ASIC4_uc002vma.3_Missense_Mutation_p.I247V|ASIC4_uc002vmb.3_5'Flank	NM_018674	NP_061144	Q96FT7	ACCN4_HUMAN	Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA.	247						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										CCTCTGCAATATCAACCGCTT	0.682000														157			9		0	0	1	0	0
MAB21L1	4081	broad.mit.edu	37	13	36049526	36049526	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:36049526G>A	uc001uvc.3	-	1	1332	c.750C>T	c.(748-750)tgC>tgT	p.C250C	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	250					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGATGGAGAGGCACTTCTTTC	0.567000														235			32		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335466	124335466	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:124335466G>A	uc001uft.4	+	33	5805	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1927	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTGGACTCCCGCATGGGCATC	0.622000														135			27		0	0	1	0	0
GHDC	84514	broad.mit.edu	37	17	40344950	40344950	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40344950G>T	uc002hzd.3	-	2	845	c.361C>A	c.(361-363)Cag>Aag	p.Q121K	GHDC_uc002hzg.2_Missense_Mutation_p.Q121K|GHDC_uc010wgg.2_Intron|GHDC_uc002hze.4_Missense_Mutation_p.Q121K|GHDC_uc002hzf.4_Missense_Mutation_p.Q121K|GHDC_uc010cxz.2_Non-coding_Transcript	NM_032484	NP_115873	Q8N2G8	GHDC_HUMAN	Homo sapiens GH3 domain containing (GHDC), transcript variant 1, mRNA.	121						endoplasmic reticulum|nuclear envelope				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		CCAAGGTCCTGGTTTGAGGTC	0.592000														228			54		4.1673e-28	5.22945e-28	1	1	0
GBX2	2637	broad.mit.edu	37	2	237075079	237075079	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:237075079G>A	uc002vvw.1	-	2	562	c.524_splice	c.e2-1	p.V175_splice	GBX2_uc010zng.1_Splice_Site_p.G177_splice	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	175				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGACAGCCCCGACTGAAAGCA	0.567000														318			13		0	0	1	0	0
ATP2A3	489	broad.mit.edu	37	17	3854899	3854899	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3854899G>A	uc002fwy.2	-	3	473	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ATP2A3_uc002fwz.2_Silent_p.A100A|ATP2A3_uc002fxa.2_Silent_p.A100A|ATP2A3_uc002fxb.2_Silent_p.A100A|ATP2A3_uc002fxc.2_Silent_p.A100A|ATP2A3_uc002fxd.2_Silent_p.A100A|ATP2A3_uc002fwx.2_Silent_p.A100A	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	100					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAATGGCGTTGGCCACGAGGA	0.687000														46			6		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144997698	144997698	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144997698C>T	uc003zaf.1	-	30	6980	c.6810G>A	c.(6808-6810)gcG>gcA	p.A2270A	PLEC_uc003zab.1_Silent_p.A2133A|PLEC_uc003zac.1_Silent_p.A2137A|PLEC_uc003zad.2_Silent_p.A2133A|PLEC_uc003zae.1_Silent_p.A2101A|PLEC_uc003zag.1_Silent_p.A2111A|PLEC_uc003zah.2_Silent_p.A2119A|PLEC_uc003zaj.2_Silent_p.A2160A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2270	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCTCTGCAGCCGCCTGTGCCT	0.736000														71			12		0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055914	17055914	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:17055914T>C	uc003wxe.3	+	5	865	c.468T>C	c.(466-468)caT>caC	p.H156H		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	156						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		TGGATCATCATTGTCCATGGT	0.259000														21			3		0	0	1	0	0
PHF2	5253	broad.mit.edu	37	9	96429501	96429501	+	Missense_Mutation	SNP	C	T	T	rs148853252	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96429501C>T	uc004aub.3	+	16	2474	c.2327C>T	c.(2326-2328)gCg>gTg	p.A776V	PHF2_uc011lug.1_Missense_Mutation_p.A659V|PHF2_uc004auc.3_Missense_Mutation_p.A196V	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	776					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GAGGTTGGCGCGCTGGAGTAC	0.677000														54			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140754948	140754948	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140754948C>T	uc003ljy.2	+	0	1298	c.1298C>T	c.(1297-1299)tCt>tTt	p.S433F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.S433F	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	435	Cadherin 4.				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)			CCACCTCTGTCTACAGAAACA	0.463000														180			37		0	0	1	0	0
PTGDS	5730	broad.mit.edu	37	9	139874451	139874451	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139874451G>A	uc004cke.3	+	3	1415	c.385G>A	c.(385-387)Gcg>Acg	p.A129T	PTGDS_uc004ckd.3_Non-coding_Transcript|LCNL1_uc004ckh.1_5'Flank	NM_000954	NP_000945	P41222	PTGDS_HUMAN	Homo sapiens prostaglandin D2 synthase 21kDa (brain) (PTGDS), mRNA.	129					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	p.Y128*(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGACCAGTACGCGCTGCTGTA	0.662000														298			52		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4683914	4683914	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4683914G>T	uc003bqc.3	+	6	854	c.504G>T	c.(502-504)aaG>aaT	p.K168N	ITPR1_uc010hbz.3_Missense_Mutation_p.K168N|ITPR1_uc021wsi.1_Missense_Mutation_p.K168N|ITPR1_uc021wsj.1_Missense_Mutation_p.K168N|ITPR1_uc011asu.2_Missense_Mutation_p.K168N	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	168					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CATTCTACAAGCTGCGATCCA	0.468000														49			9		0.000442599	0.000455268	1	1	0
ACSM4	341392	broad.mit.edu	37	12	7459295	7459295	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:7459295G>T	uc001qsx.1	+	1	368	c.368G>T	c.(367-369)aGa>aTa	p.R123I		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	123					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTCTGCCCAGAATCCCTGAG	0.512000														24			9		1.12685e-05	1.18529e-05	1	1	0
EGFLAM	133584	broad.mit.edu	37	5	38427240	38427240	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:38427240A>T	uc003jlc.2	+	13	2286	c.1940A>T	c.(1939-1941)gAt>gTt	p.D647V	EGFLAM_uc003jlb.2_Missense_Mutation_p.D647V|EGFLAM_uc003jle.2_Missense_Mutation_p.D413V|EGFLAM_uc003jlf.2_Missense_Mutation_p.D13V	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	647	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GACTCAGGAGATGGTGTCCTC	0.542000														271			12		0	0	1	0	0
XPNPEP3	63929	broad.mit.edu	37	22	41282489	41282489	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:41282489A>C	uc003azh.3	+	3	863	c.762A>C	c.(760-762)cgA>cgC	p.R254R	XPNPEP3_uc011aox.2_Silent_p.R254R|XPNPEP3_uc003azi.3_Silent_p.R175R|XPNPEP3_uc011aoy.1_Non-coding_Transcript|XPNPEP3_uc010gyh.1_Non-coding_Transcript	NM_022098	NP_071381	Q9NQH7	XPP3_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 3, putative (XPNPEP3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						AAATTGAACGAATGCAGATTG	0.522000														133			27		0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52740552	52740552	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52740552G>A	uc011bzo.2	+	4	390	c.383_splice	c.e4+1	p.S128_splice	DCUN1D4_uc003gze.3_Splice_Site_p.S84_splice|DCUN1D4_uc003gzf.3_Splice_Site_p.S84_splice|DCUN1D4_uc011bzn.2_Splice_Site_p.S24_splice|DCUN1D4_uc003gzg.3_Splice_Site|DCUN1D4_uc003gzh.3_Splice_Site	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	84	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			GACATGATAGGTATGATGTAG	0.403000														57			14		0	0	1	0	0
GIPC2	54810	broad.mit.edu	37	1	78585184	78585184	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78585184G>A	uc001dik.3	+	4	904	c.714_splice	c.e4+1	p.M238_splice		NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	238						cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GGAAGAAATGGTATGTTATGT	0.398000														40			5		0	0	1	0	0
GCDH	2639	broad.mit.edu	37	19	13008537	13008537	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:13008537C>A	uc002mvq.3	+	10	1180	c.1103C>A	c.(1102-1104)tCt>tAt	p.S368Y	GCDH_uc002mvp.3_Missense_Mutation_p.S368Y|GCDH_uc010xmt.2_Missense_Mutation_p.S202Y|GCDH_uc010xmu.2_Missense_Mutation_p.S324Y	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	368					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						GAGATGGTTTCTCTGCTGAAG	0.602000														364			90		1.40862e-40	1.79111e-40	1	1	0
CTNNA2	1496	broad.mit.edu	37	2	80874927	80874927	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:80874927G>A	uc010ysh.2	+	17	2797	c.2792G>A	c.(2791-2793)cGa>cAa	p.R931Q	CTNNA2_uc010yse.2_Missense_Mutation_p.R883Q|CTNNA2_uc010ysf.2_Missense_Mutation_p.R883Q|CTNNA2_uc010ysg.2_Missense_Mutation_p.R838Q|CTNNA2_uc010ysi.2_Missense_Mutation_p.R515Q|CTNNA2_uc010ysj.2_Missense_Mutation_p.R212Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	931					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.G932A(1)|p.R883P(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						CGAGTTCGACGAGGTTCTCAG	0.438000														237			42		0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58207971	58207971	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:58207971G>A	uc001vhq.1	+	0	2183	c.1291G>A	c.(1291-1293)Gac>Aac	p.D431N	PCDH17_uc010aec.1_Missense_Mutation_p.D431N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	431	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCGCCCGCTGGACCGCGAGAC	0.647000														75			18		0	0	1	0	0
DDX51	317781	broad.mit.edu	37	12	132625245	132625245	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:132625245C>T	uc001ujy.4	-	9	1515	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	492					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		GGACGACCAGCGGCTTAGAGC	0.657000														172			14		0	0	1	0	0
FEM1A	55527	broad.mit.edu	37	19	4793649	4793649	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4793649G>A	uc002mbf.3	+	0	1922	c.1783G>A	c.(1783-1785)Gcc>Acc	p.A595T	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	595					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	p.P594P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CAACTGCCCGGCCATCATGAA	0.607000														98			16		0	0	1	0	0
BAALC	79870	broad.mit.edu	37	8	104225273	104225273	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104225273G>A	uc003yld.3	+	1	492	c.287G>A	c.(286-288)gGc>gAc	p.G96D	BAALC_uc003yle.3_Intron|LOC100499183_uc003ylf.2_Intron|BAALC_uc010mcc.3_5'Flank	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	Homo sapiens brain and acute leukemia, cytoplasmic (BAALC), transcript variant 1, mRNA.	131						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTCAGCTCAGGCCCTCTGACC	0.567000														191			45		0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100622745	100622745	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:100622745C>A	uc001vom.1	-	0	1434	c.1185G>T	c.(1183-1185)gaG>gaT	p.E395D		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	395	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGCAGATGAGCTCCTGCTTGA	0.796000														17			4		0.00909568	0.00920877	1	1	0
RBM22	55696	broad.mit.edu	37	5	150078092	150078092	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150078092G>A	uc003lst.3	-	3	362	c.240C>T	c.(238-240)gtC>gtT	p.V80V		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	80					protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding	p.N79N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGGTCTGACAGACATTCTTCA	0.463000														218			9		0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241676958	241676958	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:241676958T>C	uc001hyx.3	-	2	386	c.323A>G	c.(322-324)cAg>cGg	p.Q108R		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	108					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCATAATCCTGGTTTACTTC	0.373000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					126			50		0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136031	156136031	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:156136031G>A	uc003ioq.3	+	1	1429	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	NPY2R_uc003ior.3_Missense_Mutation_p.A314T|NPY2R_uc021xtm.1_Missense_Mutation_p.A314T	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	314					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	p.I313I(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCACATCATCGCCATGTGCTC	0.537000														100			23		0	0	1	0	0
OR51T1	401665	broad.mit.edu	37	11	4903783	4903783	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:4903783C>A	uc010qyp.2	+	0	735	c.735C>A	c.(733-735)ttC>ttA	p.F245L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTATTCTTTTCTCCTATGTCC	0.438000														95			20		8.28177e-16	9.83302e-16	1	1	0
GPR125	166647	broad.mit.edu	37	4	22390383	22390383	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:22390383T>G	uc003gqm.1	-	18	3176	c.2911A>C	c.(2911-2913)Aat>Cat	p.N971H	GPR125_uc010ieo.1_Missense_Mutation_p.N827H|GPR125_uc003gql.1_Missense_Mutation_p.N98H	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCCTGATGATTTATTTCGCCA	0.433000														139			37		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106539333	106539333	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:106539333G>A	uc021ser.1	-	2082		c.37813C>T								Parts of antibodies, mostly variable regions.																		GAGGCCCCAGGCTTCTTCACC	0.547000														89			69		0	0	1	0	0
C10orf32	119032	broad.mit.edu	37	10	104620108	104620108	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:104620108G>A	uc001kwh.2	+	1	238	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	C10orf32_uc001kwi.2_Missense_Mutation_p.R54Q|AS3MT_uc001kwj.3_5'UTR	NM_144591	NP_653192	Q96B45	CJ032_HUMAN	Homo sapiens chromosome 10 open reading frame 32 (C10orf32), transcript variant 2, mRNA.	53										large_intestine(1)	1		all_hematologic(284;0.176)|Colorectal(252;0.207)		Epithelial(162;4.32e-09)|all cancers(201;1.14e-07)|BRCA - Breast invasive adenocarcinoma(275;0.217)		CAGGCAGCTCGAAACATGGTA	0.383000														47			11		0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87339252	87339252	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:87339252T>G	uc004aoa.1	+	9	1772	c.834T>G	c.(832-834)tcT>tcG	p.S278S	NTRK2_uc004anv.1_Silent_p.S278S|NTRK2_uc004any.1_Silent_p.S278S|NTRK2_uc004anz.1_Silent_p.S278S|NTRK2_uc004aob.1_Silent_p.S278S|NTRK2_uc011lsz.2_Silent_p.S278S|NTRK2_uc011lta.2_Silent_p.S278S|NTRK2_uc011ltb.1_Silent_p.S122S	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	278	Ig-like C2-type 1.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ATCAAGATTCTGTCAACCTCA	0.448000										TSP Lung(25;0.17)				256			50		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	701862	701862	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:701862G>A	uc002cii.1	+	8	930	c.876G>A	c.(874-876)ccG>ccA	p.P292P	WDR90_uc002cig.1_Silent_p.P292P|WDR90_uc002cih.1_Silent_p.P293P|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	292										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGCCCTTCCCGGAGGTCAGCC	0.682000														102			21		0	0	1	0	0
CHST2	9435	broad.mit.edu	37	3	142840537	142840537	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:142840537G>T	uc003evm.3	+	1	1818	c.879G>T	c.(877-879)gaG>gaT	p.E293D	CHST2_uc021xex.1_Missense_Mutation_p.E293D	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	293					N-acetylglucosamine metabolic process|inflammatory response|multicellular organismal development|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTTTCGAGGAGGAGTGCCGCA	0.662000														41			11		3.86212e-05	4.026e-05	1	1	0
RYR3	6263	broad.mit.edu	37	15	33954523	33954523	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33954523C>T	uc001zhi.3	+	34	4862	c.4792C>T	c.(4792-4794)Ctc>Ttc	p.L1598F	RYR3_uc010bar.3_Missense_Mutation_p.L1598F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1598	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACAAGTACCTCCCCGGCCT	0.582000														43			12		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76744928	76744928	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:76744928G>A	uc001jwn.1	+	11	2957	c.2464G>A	c.(2464-2466)Gag>Aag	p.E822K	KAT6B_uc001jwm.1_Missense_Mutation_p.E530K|KAT6B_uc001jwo.1_Missense_Mutation_p.E530K|KAT6B_uc001jwp.1_Missense_Mutation_p.E639K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	822	Catalytic.|Interaction with BRPF1.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TTATGATGTCGAGCCATTCCT	0.383000														61			9		0	0	1	0	0
NFKBIE	4794	broad.mit.edu	37	6	44229575	44229575	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:44229575T>C	uc003oxe.1	-	2	921	c.896A>G	c.(895-897)cAt>cGt	p.H299R		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	299					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACAGCCAGATGGAGTGCTGT	0.612000														67			4		0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53854630	53854630	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53854630G>T	uc010ydv.1	+	3	819	c.702G>T	c.(700-702)caG>caT	p.Q234H	ZNF845_uc010ydw.1_Missense_Mutation_p.Q234H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GGAAACATCAGATAATCCATT	0.373000														83			24		1.9806e-07	2.14016e-07	1	1	0
EYA4	2070	broad.mit.edu	37	6	133836487	133836487	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:133836487C>T	uc011ecs.2	+	16	1864	c.1548C>T	c.(1546-1548)gcC>gcT	p.A516A	EYA4_uc011ecq.2_Silent_p.A456A|EYA4_uc011ecr.2_Silent_p.A462A|EYA4_uc003qec.4_Silent_p.A510A|EYA4_uc003qed.4_Silent_p.A510A|EYA4_uc003qee.4_Silent_p.A487A|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	510					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AGAGGGATGCCTGGCTACAGT	0.428000														182			38		0	0	1	0	0
MCM6	4175	broad.mit.edu	37	2	136610469	136610469	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:136610469A>G	uc002tuw.3	-	11	1719	c.1643T>C	c.(1642-1644)aTt>aCt	p.I548T		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	548	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GCGCCTGGCAATGGCATAATC	0.368000														58			20		0	0	1	0	0
AK1	203	broad.mit.edu	37	9	130635041	130635041	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130635041G>A	uc004bsm.4	-	3	288	c.135C>T	c.(133-135)tcC>tcT	p.S45S		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	45					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|adenylate kinase activity|protein binding			endometrium(1)|prostate(1)	2						AGCTGACCTCGGACCGCAGGA	0.637000														94			21		0	0	1	0	0
C15orf26	161502	broad.mit.edu	37	15	81430434	81430434	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81430434G>A	uc002bgb.3	+	3	462	c.435G>A	c.(433-435)caG>caA	p.Q145Q	C15orf26_uc010blp.1_Silent_p.Q120Q	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	145										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GATATGGGCAGGACTTTTGCC	0.393000														151			15		0	0	1	0	0
TMEM50B	757	broad.mit.edu	37	21	34823111	34823111	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:34823111C>T	uc002yrs.2	-	6		c.704G>A			TMEM50B_uc010gmb.2_Non-coding_Transcript	NM_006134		P56557	TM50B_HUMAN	Homo sapiens transmembrane protein 50B (TMEM50B), transcript variant 1, mRNA.							endoplasmic reticulum|integral to membrane|plasma membrane				breast(1)|kidney(1)|ovary(1)|skin(1)	4						GAAAATGTGACTTAAGAAGTG	0.338000														65			7		0	0	1	0	0
PROP1	5626	broad.mit.edu	37	5	177419780	177419780	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177419780C>T	uc003mif.1	-	2	920	c.611G>A	c.(610-612)gGc>gAc	p.G204D		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	204					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCAGATGGCCGGCAGGGGC	0.627000														41			12		0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44163674	44163674	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:44163674A>C	uc001cjx.3	+	18	2997	c.2831A>C	c.(2830-2832)gAg>gCg	p.E944A	KDM4A_uc010oki.2_Intron	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	944	Tudor 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CTTTATCCTGAGGACATAGTG	0.498000														87			31		0	0	1	0	0
PTENP1	11191	broad.mit.edu	37	9	33676518	33676518	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:33676518G>A	uc003zth.4	-	0	901	c.30C>T	c.(28-30)ggC>ggT	p.G10G						Homo sapiens phosphatase and tensin homolog pseudogene 1 (PTENP1), non-coding RNA.																		TCCTGTATACGCCTTCAAGTC	0.338000														109			13		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156876547	156876547	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156876547C>T	uc001fqj.1	+	5	635	c.519C>T	c.(517-519)aaC>aaT	p.N173N	PEAR1_uc009wsl.1_Intron|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	173						integral to membrane		p.P172Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCCCCGAACTGCCTTCAGC	0.632000														224			71		0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	119800284	119800284	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:119800284G>A	uc003ksq.3	+	0	266	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PRR16_uc003ksp.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	35										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GATCATCGTGGAGGATTTGGA	0.602000														21			5		0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91424215	91424215	+	Silent	SNP	C	T	T	rs146566561	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:91424215C>T	uc002bpu.1	+	14	1953	c.1737C>T	c.(1735-1737)ccC>ccT	p.P579P		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	579	Cys-rich.				Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGGGCTGCCCGTACCTCCAG	0.622000														211			16		0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100284964	100284964	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:100284964G>A	uc003uwg.1	-	4	1448	c.439C>T	c.(439-441)Cga>Tga	p.R147*		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	147										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGGGGCTTCGTCCAAAGGCC	0.652000														313			66		0	0	1	0	0
CCDC134	79879	broad.mit.edu	37	22	42209411	42209411	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:42209411G>A	uc003bbh.1	+	4	563	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Intron	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	152						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						CCAGACAGGCGTCTTCAACCA	0.597000														105			26		0	0	1	0	0
CNNM4	26504	broad.mit.edu	37	2	97427977	97427977	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:97427977A>C	uc002swx.3	+	0	1339	c.1241A>C	c.(1240-1242)gAg>gCg	p.E414A		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	414	CBS 1.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TTCGAAGACGAGCAGTCCAAT	0.507000														194			56		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73727036	73727036	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73727036G>T	uc002jpg.3	+	8	1270	c.1083G>T	c.(1081-1083)gaG>gaT	p.E361D	ITGB4_uc002jph.3_Missense_Mutation_p.E361D|ITGB4_uc010dgo.3_Missense_Mutation_p.E361D|ITGB4_uc002jpi.4_Missense_Mutation_p.E361D|ITGB4_uc010dgp.1_Missense_Mutation_p.E361D|ITGB4_uc002jpj.3_Missense_Mutation_p.E361D|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	361					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCTGGAGGAGGCCTTCAATG	0.617000														167			41		1.59361e-14	1.87298e-14	1	1	0
TMEM8B	51754	broad.mit.edu	37	9	35842555	35842555	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:35842555G>A	uc003zyo.3	+	5	1408	c.120G>A	c.(118-120)ccG>ccA	p.P40P	TMEM8B_uc003zyk.3_Silent_p.P40P|TMEM8B_uc003zym.3_Silent_p.P40P|TMEM8B_uc003zyn.3_Intron	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	40					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CAGTGCGCCCGACTCTGCGCA	0.657000														100			20		0	0	1	0	0
ERO1LB	56605	broad.mit.edu	37	1	236415367	236415367	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:236415367C>T	uc001hxt.3	-	3	587	c.331G>A	c.(331-333)Gct>Act	p.A111T	ERO1LB_uc010pxt.1_Missense_Mutation_p.A111T	NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA.	111					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			GAATGCCCAGCTTTTATTCCA	0.323000														67			25		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96022269	96022269	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:96022269T>G	uc001kjk.3	+	13	4467	c.3833T>G	c.(3832-3834)gTc>gGc	p.V1278G	PLCE1_uc010qnx.2_Missense_Mutation_p.V1262G|PLCE1_uc001kjm.3_Missense_Mutation_p.V970G	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1278					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCAGAAATGTCTCGGATTTG	0.433000														235			51		0	0	1	0	0
LRRC49	54839	broad.mit.edu	37	15	71276472	71276472	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:71276472T>C	uc010ukf.2	+	10	1366	c.1060T>C	c.(1060-1062)Tgg>Cgg	p.W354R	LRRC49_uc002asu.3_Missense_Mutation_p.W339R|LRRC49_uc002asx.3_Missense_Mutation_p.W305R|LRRC49_uc002asw.3_Missense_Mutation_p.W349R|LRRC49_uc002asy.3_Missense_Mutation_p.W55R|LRRC49_uc002asz.3_Missense_Mutation_p.W321R	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	349				Missing (in Ref. 1; BAA90984 and 3; AAH37982).		cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AGCTCGACAGTGGGACTTGCA	0.378000														60			28		0	0	1	0	0
PPP1R27	116729	broad.mit.edu	37	17	79792819	79792819	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79792819C>A	uc002kbj.1	-	0	108	c.11G>T	c.(10-12)aGa>aTa	p.R4I	FAM195B_uc010wuy.1_5'Flank|FAM195B_uc010wuz.1_5'Flank|FAM195B_uc002kjd.2_5'Flank|PPP1R27_uc002kbk.1_Missense_Mutation_p.R4I	NM_001007533	NP_001007534	Q86WC6	DYSI1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 27 (PPP1R27), mRNA.	4																	GCGGGCAGTTCTGCTAGGCAT	0.622000														41			9		0.000274275	0.000282808	1	1	0
SLC6A11	6538	broad.mit.edu	37	3	10970960	10970960	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:10970960C>T	uc003bvz.3	+	9	1340	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	436					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GGGTTACCGGCGGGAGCTGCT	0.552000														307			80		0	0	1	0	0
NEXN	91624	broad.mit.edu	37	1	78383276	78383276	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:78383276T>C	uc001dic.4	+	2	350	c.53T>C	c.(52-54)gTc>gCc	p.V18A	NEXN_uc001dia.3_Missense_Mutation_p.V18A|NEXN_uc009wcb.1_Intron|NEXN_uc001dib.4_Intron|NEXN_uc001did.1_5'Flank|NEXN_uc001dif.1_5'Flank	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	18					regulation of cell migration|regulation of cytoskeleton organization	Z disc|cytoskeleton	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TCTAAACCTGTCCCAAAAACC	0.338000														49			24		0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6211106	6211106	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:6211106C>T	uc001amb.2	-	6	1091	c.980G>A	c.(979-981)cGc>cAc	p.R327H		NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	327					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTTCTTCTTGCGCCTCCTCTT	0.602000														97			7		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631230	18631230	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:18631230T>C	uc003sui.3	+	3	548	c.507T>C	c.(505-507)aaT>aaC	p.N169N	HDAC9_uc003sue.3_Silent_p.N166N|HDAC9_uc011jyd.2_Silent_p.N166N|HDAC9_uc003suh.3_Silent_p.N166N|HDAC9_uc003suj.3_Silent_p.N169N|HDAC9_uc011jya.2_Silent_p.N208N|HDAC9_uc003sua.1_Silent_p.N188N|HDAC9_uc003sud.2_Silent_p.N166N|HDAC9_uc011jyc.2_Silent_p.N169N|HDAC9_uc011jyb.2_Silent_p.N166N|HDAC9_uc003suf.2_Silent_p.N197N|HDAC9_uc010kud.2_Silent_p.N169N|HDAC9_uc011jye.2_Silent_p.N138N|HDAC9_uc011jyf.2_Silent_p.N135N|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	166					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAAAAAATCATTCCGTGA	0.448000														67			5		0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169572	33169572	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:33169572C>T	uc003odf.3	+	2	579	c.462C>T	c.(460-462)ttC>ttT	p.F154F	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Silent_p.F154F|SLC39A7_uc011dqv.2_Silent_p.F29F|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	154						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TTGTCCTCTTCCTTATCCCCG	0.547000														134			28		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38931486	38931486	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38931486G>T	uc002oit.3	+	1	277	c.147G>T	c.(145-147)gaG>gaT	p.E49D	RYR1_uc002oiu.3_Missense_Mutation_p.E49D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	49					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)	GCTTCCTGGAGCCCACTAGCA	0.642000														39			14		1.5739e-10	1.77479e-10	1	1	0
FGD4	121512	broad.mit.edu	37	12	32778624	32778624	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32778624C>T	uc010ske.2	+	13	2092	c.2008C>T	c.(2008-2010)Cga>Tga	p.R670*	FGD4_uc001rlc.3_Nonsense_Mutation_p.R643*|FGD4_uc001rky.3_Nonsense_Mutation_p.R310*|FGD4_uc001rkz.3_Nonsense_Mutation_p.R558*|FGD4_uc001rla.3_Nonsense_Mutation_p.R214*|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	558	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AAGATGGATCCGAGATAATGA	0.353000														120			28		0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66472170	66472170	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:66472170G>A	uc001ojd.3	-	13	2649	c.2577C>T	c.(2575-2577)agC>agT	p.S859S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	859					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCCCGGCCTCGCTGAGCATGG	0.706000														53			7		0	0	1	0	0
PIGL	9487	broad.mit.edu	37	17	16120611	16120611	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:16120611C>T	uc002gpv.3	+	0	103	c.71C>T	c.(70-72)tCc>tTc	p.S24F	NCOR1_uc002gpo.3_5'Flank|PIGL_uc010vwd.2_Missense_Mutation_p.S24F|NCOR1_uc002gps.2_5'Flank|NCOR1_uc010cpb.2_5'Flank|NCOR1_uc010coz.2_5'Flank|NCOR1_uc010cpa.2_5'Flank|NCOR1_uc002gpu.3_5'Flank	NM_004278	NP_004269	Q9Y2B2	PIGL_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class L (PIGL), mRNA.	24					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminylphosphatidylinositol deacetylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11				UCEC - Uterine corpus endometrioid carcinoma (92;0.0934)		GTTTGGGACTCCTCAGAACGA	0.587000														116			25		0	0	1	0	0
ZNF701	55762	broad.mit.edu	37	19	53085712	53085712	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53085712A>G	uc010ydn.2	+	4	661	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	ZNF701_uc002pzs.2_Missense_Mutation_p.K134E|ZNF701_uc021uyw.1_Missense_Mutation_p.K200E	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGCTGGAAACAAACCTATTAA	0.408000														213			15		0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71686695	71686695	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:71686695C>T	uc002fax.3	-	16	2821	c.2815G>A	c.(2815-2817)Gag>Aag	p.E939K	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.E872K	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	939	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAACACACCTCTGTGATGATG	0.557000														106			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167711	140167711	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140167711G>T	uc003lhb.2	+	0	1836	c.1836G>T	c.(1834-1836)caG>caT	p.Q612H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.Q612H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	624	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAACTGCAGCCGGCAGCAG	0.677000														281			72		2.72615e-36	3.4569e-36	1	1	0
FAM20A	54757	broad.mit.edu	37	17	66538300	66538300	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:66538300T>C	uc002jho.3	-	6	1223	c.935A>G	c.(934-936)aAc>aGc	p.N312S	FAM20A_uc010wqp.2_Missense_Mutation_p.N174S|FAM20A_uc002jhn.3_Missense_Mutation_p.T15A	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	312						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAAGCACACGTTGCTCGCTGG	0.577000														74			15		0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53686654	53686654	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:53686654G>A	uc002ehp.3	-	14	2009	c.1945C>T	c.(1945-1947)Cga>Tga	p.R649*	RPGRIP1L_uc002eho.4_Nonsense_Mutation_p.R649*|RPGRIP1L_uc010vgy.2_Nonsense_Mutation_p.R649*|RPGRIP1L_uc010cbx.3_Nonsense_Mutation_p.R649*|RPGRIP1L_uc010vgz.1_Nonsense_Mutation_p.R649*	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	649	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R649*(2)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGAAGGCCTCGCACTACGGGA	0.373000														77			18		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15493765	15493765	+	Missense_Mutation	SNP	C	T	T	rs140188229		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:15493765C>T	uc002rcc.1	-	33	4027	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1334										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453000														204			71		0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18703915	18703915	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:18703915G>A	uc001bau.2	+	8	1706	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	IGSF21_uc001bav.2_Silent_p.E262E	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	441						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GAGGAACGGAGGACTCTAATG	0.478000														160			11		0	0	1	0	0
SPIN3	169981	broad.mit.edu	37	X	57021054	57021054	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:57021054G>A	uc022bxv.1	-	0	327	c.327C>T	c.(325-327)gtC>gtT	p.V109V	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Silent_p.V109V|SPIN3_uc004dux.1_Silent_p.V109V	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	109					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATTAGGAAGGACTTCAAGTG	0.378000														203			55		0	0	1	0	0
ZNF142	7701	broad.mit.edu	37	2	219513829	219513829	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:219513829G>T	uc002vin.3	-	5	1238	c.802C>A	c.(802-804)Cta>Ata	p.L268I	ZNF142_uc002vil.3_Missense_Mutation_p.L229I|ZNF142_uc010fvt.3_Missense_Mutation_p.L105I|ZNF142_uc002vim.3_Missense_Mutation_p.L105I	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCTCCTTTAGGGCCTGGCTG	0.582000											OREG0015202	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		87			23		1.10923e-09	1.2355e-09	1	1	0
MAGI2	9863	broad.mit.edu	37	7	78130968	78130968	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:78130968G>A	uc003ugx.3	-	4	1145	c.891C>T	c.(889-891)gaC>gaT	p.D297D	MAGI2_uc003ugy.3_Silent_p.D297D|MAGI2_uc011kgr.1_Silent_p.D129D|MAGI2_uc011kgs.1_Silent_p.D134D	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	297						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTTCCTCATTGTCTTCAGGTT	0.488000														146			26		0	0	1	0	0
CTSL3	392360	broad.mit.edu	37	9	90388080	90388080	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:90388080C>T	uc004apm.1	+	1	151	c.145C>T	c.(145-147)Ctc>Ttc	p.L49F						Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA.											endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	15						GGGGAAAGTGCTCCAGGAACC	0.453000														90			26		0	0	1	0	0
VN1R2	317701	broad.mit.edu	37	19	53762196	53762196	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:53762196A>G	uc002qbi.2	+	0	652	c.568A>G	c.(568-570)Acc>Gcc	p.T190A		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	190					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity	p.T190S(2)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		CCAGGTGATCACCATCAACCC	0.488000														64			14		0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88211754	88211754	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:88211754T>C	uc001kdn.3	-	15	3204	c.3195A>G	c.(3193-3195)ggA>ggG	p.G1065G	WAPAL_uc009xsv.3_Intron|WAPAL_uc001kdo.3_Silent_p.G1028G|WAPAL_uc009xsw.3_Silent_p.G1022G	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	1028	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CATGAACTTGTCCACCTATCC	0.408000														109			17		0	0	1	0	0
LNPEP	4012	broad.mit.edu	37	5	96349496	96349496	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:96349496A>G	uc003kmv.1	+	11	2694	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G	LNPEP_uc003kmw.1_Missense_Mutation_p.D713G	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	727					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		AGTGACAAAGACCGAGCCAAC	0.323000														126			25		0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119914429	119914429	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:119914429G>A	uc002tlo.2	-	1	1439	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	271	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						TGTTATTATTGCCTCCGTGAG	0.612000										HNSCC(49;0.14)				331			32		0	0	1	0	0
POU4F1	5457	broad.mit.edu	37	13	79175757	79175757	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:79175757G>A	uc001vkv.3	-	1	1287	c.1053C>T	c.(1051-1053)aaC>aaT	p.N351N	BX647243_uc001vku.1_Intron	NM_006237	NP_006228	Q01851	PO4F1_HUMAN	Homo sapiens POU class 4 homeobox 1 (POU4F1), mRNA.	351					axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTCGCCGCCGTTGAAGAGCT	0.657000														112			29		0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668402	45668402	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:45668402G>A	uc002paw.3	-	1	154	c.135C>T	c.(133-135)ggC>ggT	p.G45G	TRAPPC6A_uc002pav.3_Silent_p.G59G			O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	45					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		CTAGAGCCTGGCCCACACGGA	0.682000														40			9		0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139318378	139318378	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:139318378C>T	uc002tvh.3	+	7	1118	c.718C>T	c.(718-720)Cga>Tga	p.R240*		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	240	BTB.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		ATATCAGAATCGAGTGGAAAT	0.313000														50			5		0	0	1	0	0
TRMT5	57570	broad.mit.edu	37	14	61442419	61442419	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:61442419C>T	uc001xff.4	-	3	1309	c.1218G>A	c.(1216-1218)caG>caA	p.Q406Q		NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	406						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TGCTGCATGGCTGCCCATCTA	0.458000														108			20		0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5257520	5257520	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:5257520C>T	uc003bqi.3	+	11	2023	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C		NM_014674	NP_055489	Q92611	EDEM1_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.	631					ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CTAGTGCAATCGTGTACCTGA	0.443000														88			25		0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181003204	181003204	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:181003204G>A	uc001goq.2	+	1	222	c.61G>A	c.(61-63)Gat>Aat	p.D21N	MR1_uc001gor.2_Missense_Mutation_p.D21N|MR1_uc001gos.2_Missense_Mutation_p.D21N|MR1_uc010pns.2_Missense_Mutation_p.D21N|MR1_uc001gop.3_Missense_Mutation_p.D21N	NM_001531	NP_001522	Q95460	HMR1_HUMAN	Homo sapiens major histocompatibility complex, class I-related (MR1), transcript variant 1, mRNA.	21					antigen processing and presentation of peptide antigen via MHC class I|immune response	MHC class I protein complex|endoplasmic reticulum|extracellular region|integral to membrane	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAAGCACAGCGATTCCCGTGA	0.453000														76			9		0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67214084	67214084	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67214084G>A	uc002ert.3	-	1	1265	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.R144W|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	144										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTGGTTGGCCGCAGGGCCACC	0.587000														191			12		0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4798398	4798398	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:4798398C>T	uc010vsl.2	+	24	3190	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	MINK1_uc010vsk.2_Silent_p.L953L|MINK1_uc010vsm.2_Silent_p.L962L|MINK1_uc010vsn.2_Silent_p.L945L|MINK1_uc010vso.2_Silent_p.L890L|MINK1_uc010vsp.2_Silent_p.L443L	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	982	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCACTCGGCTCGACCAGCTGC	0.602000														84			20		0	0	1	0	0
ZNF700	90592	broad.mit.edu	37	19	12059625	12059625	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:12059625T>C	uc010xme.2	+	4	1031	c.840T>C	c.(838-840)tcT>tcC	p.S280S	ZNF700_uc002msu.3_Silent_p.S262S|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTACTTATTCTGCTACCCTTC	0.358000														50			9		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21309118	21309118	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:21309118C>T	uc001iqk.3	-	2	531	c.177G>A	c.(175-177)aaG>aaA	p.K59K	NEBL_uc021pnu.1_Silent_p.K59K	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	721				RYKEEFKK -> VIKKSLKS (in Ref. 2; AAF24858).	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						TGAAGGACTGCTTCGGGTAGT	0.413000														106			24		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588135	247588135	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:247588135G>A	uc001icr.3	+	4	1528	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	NLRP3_uc001ics.3_Missense_Mutation_p.A464T|NLRP3_uc001icu.3_Missense_Mutation_p.A464T|NLRP3_uc001icw.3_Missense_Mutation_p.A464T|NLRP3_uc001icv.3_Missense_Mutation_p.A464T|NLRP3_uc010pyw.2_Missense_Mutation_p.A462T|NLRP3_uc001ict.1_Missense_Mutation_p.A462T	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	464	NACHT.				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)			CGGCCTCTGCGCCCACCTCTG	0.597000														106			10		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2347394	2347394	+	Silent	SNP	G	A	A	rs138901284	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:2347394G>A	uc002cpy.1	-	16	2911	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	ABCA3_uc010bsk.1_Silent_p.I675I|ABCA3_uc010bsl.1_Silent_p.I733I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	733	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCATGATGGCGATGCGGTCTC	0.632000														205			47		0	0	1	0	0
EPSTI1	94240	broad.mit.edu	37	13	43538235	43538235	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43538235T>G	uc001uyw.1	-	3	448	c.372A>C	c.(370-372)caA>caC	p.Q124H	EPSTI1_uc001uyx.1_Missense_Mutation_p.Q124H	NM_001002264	NP_001002264	Q96J88	ESIP1_HUMAN	Homo sapiens epithelial stromal interaction 1 (breast) (EPSTI1), transcript variant 1, mRNA.	124										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TCAGCTGGAGTTGTTGTTTCT	0.363000														29			11		0	0	1	0	0
SLC12A4	6560	broad.mit.edu	37	16	67980961	67980961	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:67980961T>G	uc010vkj.1	-	15	2166	c.2126A>C	c.(2125-2127)aAg>aCg	p.K709T	LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.K701T|SLC12A4_uc010vkh.1_Missense_Mutation_p.K676T|SLC12A4_uc002euz.2_Missense_Mutation_p.K707T|SLC12A4_uc010vki.1_Missense_Mutation_p.K707T|SLC12A4_uc002eva.2_Missense_Mutation_p.K707T|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	707					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCGCGGGTACTTCACGTGGAG	0.652000														56			6		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17416182	17416182	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:17416182A>C	uc003zmz.2	+	17	3132	c.3106A>C	c.(3106-3108)Ata>Cta	p.I1036L	CNTLN_uc003zmy.3_Missense_Mutation_p.I1037L|CNTLN_uc010mio.3_Missense_Mutation_p.I716L	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	1037						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CAGGCAGACAATAAAGGTAAA	0.308000														68			5		0	0	1	0	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993726	45993726	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:45993726G>A	uc002zfk.1	+	0	121	c.91G>A	c.(91-93)Gac>Aac	p.D31N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	31						keratin filament		p.D31A(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						GCAGGTGGACGACTGCCCAGA	0.682000														132			34		0	0	1	0	0
PEG10	23089	broad.mit.edu	37	7	94293496	94293496	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:94293496C>T	uc003uno.3	+	1	1107	c.628C>T	c.(628-630)Ctc>Ttc	p.L210F	PEG10_uc011kie.2_Missense_Mutation_p.L286F|PEG10_uc022ahn.1_Missense_Mutation_p.L210F	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	210	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCACGAGGGCCTCAGCGACCA	0.572000														295			58		0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20180517	20180517	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:20180517G>A	uc002wru.3	+	16	2017	c.1903G>A	c.(1903-1905)Gct>Act	p.A635T	C20orf26_uc010zse.2_Missense_Mutation_p.A615T	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	635										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGGCATAAACGCTCCATCAAA	0.627000														324			52		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332479	100332479	+	RNA	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100332479T>C	uc021sxl.1	-	1		c.674A>G			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		ATTCATCCAGTACTGGAAAGA	0.587000														208			10		0	0	1	0	0
C19orf66	55337	broad.mit.edu	37	19	10200693	10200693	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:10200693C>A	uc002mmu.4	+	4	652	c.354C>A	c.(352-354)gtC>gtA	p.V118V	C19orf66_uc002mmv.4_Silent_p.V118V|C19orf66_uc002mmw.4_Silent_p.V67V	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	118										large_intestine(3)|skin(1)	4						GCGACCACGTCTGGTGGCGCC	0.582000														32			7		8.12818e-05	8.44191e-05	1	1	0
KIAA1653	0	broad.mit.edu	37	22	20294181	20294181	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:20294181C>T	uc002zrw.1	+	0		c.2621C>T								Homo sapiens mRNA for KIAA1653 protein, partial cds.																		CTCCCACTCTCCCACCCCCTG	0.652000														31			6		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51491841	51491841	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:51491841G>A	uc003pah.1	-	65	12015	c.11739C>T	c.(11737-11739)cgC>cgT	p.R3913R		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3913			R -> H (in dbSNP:rs2661487).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGATTCTCGGCGTTTGGATG	0.438000														174			23		0	0	1	0	0
FBXO18	84893	broad.mit.edu	37	10	5945034	5945034	+	Missense_Mutation	SNP	C	T	T	rs146471049		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:5945034C>T	uc001iit.3	+	2	310	c.206C>T	c.(205-207)gCt>gTt	p.A69V	FBXO18_uc001iir.3_5'UTR|FBXO18_uc001iis.3_Missense_Mutation_p.A18V|FBXO18_uc009xig.3_5'UTR	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	18					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAGCATTTGGCTCGGAGTCAC	0.473000														76			21		0	0	1	0	0
MRPL47	57129	broad.mit.edu	37	3	179320442	179320442	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:179320442G>T	uc003fjz.3	-	1	264	c.242C>A	c.(241-243)tCt>tAt	p.S81Y	MRPL47_uc003fka.3_Intron|MRPL47_uc003fkb.3_Missense_Mutation_p.S61Y|NDUFB5_uc021xhu.1_5'Flank|NDUFB5_uc003fke.3_5'Flank|NDUFB5_uc003fkd.3_5'Flank|NDUFB5_uc003fkc.3_5'Flank	NM_020409	NP_817125	Q9HD33	RM47_HUMAN	Homo sapiens mitochondrial ribosomal protein L47 (MRPL47), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	81					translation	mitochondrial ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TATCTCACCAGATTTTACTTT	0.398000														63			14		0.000219431	0.000226893	1	1	0
CD300A	11314	broad.mit.edu	37	17	72477915	72477915	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:72477915G>A	uc002jkv.3	+	5	1038	c.717G>A	c.(715-717)tgG>tgA	p.W239*	CD300A_uc002jkw.3_Nonsense_Mutation_p.W126*|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Nonsense_Mutation_p.W43*	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	239					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TGCTGATGTGGCCTCTGCAGG	0.637000														39			9		0	0	1	0	0
ZNF238	10472	broad.mit.edu	37	1	244218555	244218555	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:244218555C>T	uc001iad.4	+	1	1652	c.1479C>T	c.(1477-1479)caC>caT	p.H493H	ZNF238_uc001iae.3_Silent_p.H484H|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	484					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TGTACAGACACATTCGCAAGT	0.577000														229			15		0	0	1	0	0
HNRNPH1	3187	broad.mit.edu	37	5	179044893	179044893	+	Silent	SNP	G	A	A	rs78795662	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:179044893G>A	uc021yjd.1	-	6	859	c.828C>T	c.(826-828)taC>taT	p.Y276Y	HNRNPH1_uc011dgn.2_Silent_p.Y6Y|HNRNPH1_uc003mkf.4_Silent_p.Y276Y|HNRNPH1_uc003mkg.4_Silent_p.Y184Y|HNRNPH1_uc003mke.4_Silent_p.Y276Y|HNRNPH1_uc003mkh.4_Silent_p.Y276Y	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	276	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						CACCATCCCCGTATCTGTGAT	0.418000														102			33		0	0	1	0	0
RBM25	58517	broad.mit.edu	37	14	73570180	73570180	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:73570180G>A	uc010ttu.2	+	10	1424	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	RBM25_uc001xno.3_Missense_Mutation_p.R383Q|RBM25_uc001xnp.3_Missense_Mutation_p.R178Q	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	383	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				RNA splicing|apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GATCGCAGTCGATCAAGGTAA	0.463000														52			10		0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218749800	218749800	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:218749800C>T	uc002vgt.2	-	13	1227	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	TNS1_uc002vgr.2_Missense_Mutation_p.G277R|TNS1_uc002vgs.2_Missense_Mutation_p.G277R|TNS1_uc010zjv.1_Missense_Mutation_p.G277R|TNS1_uc010fvj.1_Missense_Mutation_p.G345R|TNS1_uc010fvk.1_Missense_Mutation_p.G402R|TNS1_uc002vgu.3_Missense_Mutation_p.G308R|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	277	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AAGACAACCCCCAGGTCATGG	0.587000														135			33		0	0	1	0	0
C2orf56	55471	broad.mit.edu	37	2	37464951	37464951	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:37464951G>T	uc002rqa.4	+	3	424	c.349G>T	c.(349-351)Gct>Tct	p.A117S	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.4_Missense_Mutation_p.A90S|C2orf56_uc010ynk.2_Missense_Mutation_p.A117S|C2orf56_uc010ynl.2_Missense_Mutation_p.A90S	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	117					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				AAAAAGCACAGCTTTCCAGCT	0.388000														67			13		1.05317e-09	1.17384e-09	1	1	0
DEAF1	10522	broad.mit.edu	37	11	688045	688045	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:688045G>T	uc001lqq.1	-	3	1223	c.530C>A	c.(529-531)cCt>cAt	p.P177H	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.P177H	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	177					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		AGGGGTTGGAGGAGACTGAGG	0.572000														84			7		0.0477658	0.0480153	1	1	0
CINP	51550	broad.mit.edu	37	14	102822114	102822114	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:102822114C>T	uc021sea.1	-	2	431	c.342G>A	c.(340-342)ttG>ttA	p.L114L	CINP_uc001ylu.1_Non-coding_Transcript|CINP_uc001ylv.1_Silent_p.L99L|CINP_uc021seb.1_Silent_p.L99L	NM_001177611	NP_001171082	Q9BW66	CINP_HUMAN	Homo sapiens cyclin-dependent kinase 2 interacting protein (CINP), transcript variant 1, mRNA.	99					DNA repair|DNA replication|cell cycle|cell division	nucleus	protein binding			large_intestine(2)|lung(2)	4						CCAACCCATCCAAGGTGGCCT	0.498000														145			34		0	0	1	0	0
AUH	549	broad.mit.edu	37	9	93979605	93979605	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:93979605G>T	uc004arf.4	-	7	883	c.848C>A	c.(847-849)cCt>cAt	p.P283H	AUH_uc004arg.4_Missense_Mutation_p.P254H	NM_001698	NP_001689	Q13825	AUHM_HUMAN	Homo sapiens AU RNA binding protein/enoyl-CoA hydratase (AUH), nuclear gene encoding mitochondrial protein, mRNA.	283					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|mRNA 3'-UTR binding|methylglutaconyl-CoA hydratase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						CATTGCAACAGGTCCCTAAAA	0.343000														74			10		0.000442599	0.000455268	1	1	0
NEB	4703	broad.mit.edu	37	2	152419185	152419185	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152419185C>T	uc021vrb.1	-	90	13757	c.13728G>A	c.(13726-13728)acG>acA	p.T4576T	NEB_uc002txr.3_Silent_p.T1042T|NEB_uc002txu.3_Silent_p.T6277T|NEB_uc021vrc.1_Silent_p.T6277T|NEB_uc010fnx.3_Silent_p.T4564T|NEB_uc021vrd.1_Silent_p.T4576T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4576					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCAGAAGAGACGTCCACTGGT	0.483000														33			6		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201052427	201052427	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:201052427C>T	uc001gvv.3	-	9	1483	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	419					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.N418fs*12(1)|p.R419C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCGAAAGATGCGGTTCCACTG	0.542000														213			31		0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8051103	8051103	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8051103C>T	uc002gkd.3	-	10	1515	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.R410H	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	426	PAC.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCACAGAAGCGGATAGGGGA	0.617000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						78			10		0	0	1	0	0
LCP1	3936	broad.mit.edu	37	13	46704966	46704966	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46704966C>T	uc001vaz.4	-	14	1860	c.1734G>A	c.(1732-1734)gaG>gaA	p.E578E	LCP1_uc010ack.3_Silent_p.E147E|LCP1_uc001vay.4_Silent_p.E175E|LCP1_uc001vba.4_Silent_p.E578E	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	578	Actin-binding 2.|CH 4.				T cell activation involved in immune response|regulation of intracellular protein transport	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGTTGAGTTTCTCATCATCAT	0.423000			T	BCL6	NHL									122			24		0	0	1	0	0
CD59	966	broad.mit.edu	37	11	33739011	33739011	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:33739011C>A	uc001mus.4	-	1	356	c.74G>T	c.(73-75)aGc>aTc	p.S25I	CD59_uc009yjx.3_Missense_Mutation_p.S25I|CD59_uc009yjy.3_Missense_Mutation_p.S25I|CD59_uc009yjz.3_Missense_Mutation_p.S25I|CD59_uc001mut.4_Missense_Mutation_p.S25I|CD59_uc009yka.3_Missense_Mutation_p.S25I|CD59_uc001muu.4_Missense_Mutation_p.S25I|CD59_uc001muv.4_Missense_Mutation_p.S25I	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	25					blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						GCACTGCAGGCTATGACCTAG	0.473000														41			4		1.23904e-05	1.3016e-05	1	1	0
BANK1	55024	broad.mit.edu	37	4	102751340	102751340	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:102751340T>C	uc003hvy.4	+	1	720	c.446T>C	c.(445-447)gTa>gCa	p.V149A	BANK1_uc003hvx.4_Missense_Mutation_p.V134A|BANK1_uc010ill.3_Intron|BANK1_uc003hvz.4_Missense_Mutation_p.V119A	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	149	Interaction with ITPR2.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TACATCTCTGTAATCCAGAGT	0.323000														63			14		0	0	1	0	0
KCNK6	9424	broad.mit.edu	37	19	38817902	38817902	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38817902G>A	uc002oic.3	+	2	908	c.801G>A	c.(799-801)gaG>gaA	p.E267E	KCNK6_uc002oid.3_Silent_p.E133E	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	267						voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.T266M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	GCCTCACGGAGCTCATCCTGC	0.647000														158			34		0	0	1	0	0
STAMBPL1	57559	broad.mit.edu	37	10	90673146	90673146	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:90673146A>G	uc001kfk.3	+	5	1132	c.709A>G	c.(709-711)Aat>Gat	p.N237D	STAMBPL1_uc010qmx.1_Missense_Mutation_p.N237D|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Missense_Mutation_p.N237D|STAMBPL1_uc001kfn.3_Missense_Mutation_p.N71D	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	237							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TGATGCAACCAATTATGCTAG	0.453000														139			39		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235964335	235964335	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235964335C>T	uc001hxj.2	-	8	3950	c.3775G>A	c.(3775-3777)Gaa>Aaa	p.E1259K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E1259K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1259					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGAGGTTTTCGAGTAAGTCA	0.383000														114			18		0	0	1	0	0
UFM1	51569	broad.mit.edu	37	13	38924138	38924138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:38924138C>T	uc001uwu.3	+	1	120	c.5C>T	c.(4-6)tCg>tTg	p.S2L	UFM1_uc010abz.2_Missense_Mutation_p.S2L|UFM1_uc010aca.2_Missense_Mutation_p.S2L	NM_016617	NP_057701	P61960	UFM1_HUMAN	Homo sapiens ubiquitin-fold modifier 1 (UFM1), mRNA.	2					protein ufmylation	cytoplasm|nucleus	protein binding			lung(2)|ovary(1)	3		Lung NSC(96;3.18e-06)|Prostate(109;0.00314)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;1.05e-08)|Epithelial(112;1.44e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000855)|BRCA - Breast invasive adenocarcinoma(63;0.00342)|GBM - Glioblastoma multiforme(144;0.0132)		TTCCTCAGGTCGAAGGTTTCC	0.567000														218			63		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216258214	216258214	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:216258214T>G	uc001hku.1	-	24	5380	c.4993A>C	c.(4993-4995)Atc>Ctc	p.I1665L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1665	Laminin G-like 1.		I -> T (in dbSNP:rs56222536).		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)		CCTTTTTGGATTATCTCTGCA	0.333000										HNSCC(13;0.011)				81			47		0	0	1	0	0
CAMKK1	84254	broad.mit.edu	37	17	3785616	3785616	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:3785616G>A	uc002fwv.3	-	7	882	c.734C>T	c.(733-735)gCc>gTc	p.A245V	CAMKK1_uc002fwt.3_Intron|CAMKK1_uc002fwu.3_Intron	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	228	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		GTGGGGCTTGGCGATATTTGT	0.562000														116			22		0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120483361	120483361	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120483361G>A	uc001eik.3	-	18	3297	c.3000C>T	c.(2998-3000)ggC>ggT	p.G1000G	NOTCH2_uc001eil.3_Silent_p.G1000G	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1000	EGF-like 26; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.G999C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAACACATGTGCCACCATTGA	0.443000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome					66			16		0	0	1	0	0
XYLT2	64132	broad.mit.edu	37	17	48434506	48434506	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:48434506C>T	uc002iqo.3	+	8	1943	c.1834C>T	c.(1834-1836)Ccc>Tcc	p.P612S	XYLT2_uc010dbo.3_Intron	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	612					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GGCGGTGCAGCCCTCAGCCCA	0.642000														91			18		0	0	1	0	0
HGS	9146	broad.mit.edu	37	17	79662228	79662228	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79662228C>A	uc002kbg.3	+	13	1289	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	385	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAGCCCATTCCTCCCTCTGGT	0.637000														165			39		1.08052e-11	1.23412e-11	1	1	0
LY6G6F	259215	broad.mit.edu	37	6	31675894	31675894	+	Missense_Mutation	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31675894T>A	uc003nwb.1	+	2	629	c.629T>A	c.(628-630)gTc>gAc	p.V210D	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.V210D	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	210						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						AACAAAGGGGTCAGCTTTAGC	0.567000														238			22		0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47110060	47110060	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:47110060G>A	uc002ldv.3	+	7	1544	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	LIPG_uc010xdh.2_Missense_Mutation_p.R357H	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	431	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.R431C(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						AAGGAGTTTCGCAGCTACCTG	0.587000														90			17		0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146350781	146350781	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:146350781G>T	uc010khw.1	+	1	598	c.128G>T	c.(127-129)gGa>gTa	p.G43V	GRM1_uc010khu.1_Missense_Mutation_p.G43V|GRM1_uc010khv.1_Missense_Mutation_p.G43V|GRM1_uc003qll.2_Missense_Mutation_p.G43V|GRM1_uc011edz.1_Missense_Mutation_p.G43V|GRM1_uc011eea.1_Missense_Mutation_p.G43V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	43					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGAATGGACGGAGATGTCATC	0.597000														266			64		9.10829e-22	1.12022e-21	1	1	0
LCE1C	353133	broad.mit.edu	37	1	152777708	152777708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:152777708G>A	uc021ozi.1	-	0	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	LCE1C_uc001fap.1_Missense_Mutation_p.R83C	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	83	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGGACCTACGGCGCCTGTGG	0.701000														227			58		0	0	1	0	0
CYP19A1	1588	broad.mit.edu	37	15	51529135	51529135	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:51529135C>T	uc001zyz.4	-	3	468	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CYP19A1_uc001zza.4_Missense_Mutation_p.A73T|CYP19A1_uc001zzb.2_Missense_Mutation_p.A73T|CYP19A1_uc001zzd.3_Missense_Mutation_p.A73T|CYP19A1_uc010bey.1_Missense_Mutation_p.A73T	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	73					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	TAGTTGCAGGCACTGCCGATC	0.502000														143			32		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112919958	112919958	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:112919958C>T	uc001ttx.3	+	9	1553	c.1173C>T	c.(1171-1173)agC>agT	p.S391S	PTPN11_uc001ttw.1_Silent_p.S391S	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	391	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCAAAGAAAGCGCCGCTCATG	0.398000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					121			30		0	0	1	0	0
FGD4	121512	broad.mit.edu	37	12	32772752	32772752	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:32772752C>A	uc010ske.2	+	10	1879	c.1795C>A	c.(1795-1797)Cca>Aca	p.P599T	FGD4_uc001rlc.3_Missense_Mutation_p.P572T|FGD4_uc001rky.3_Missense_Mutation_p.P239T|FGD4_uc001rkz.3_Missense_Mutation_p.P487T|FGD4_uc001rla.3_Missense_Mutation_p.P143T|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	487					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGAAGAATATCCACATACTTT	0.438000														109			32		1.39806e-14	1.64448e-14	1	1	0
KL	9365	broad.mit.edu	37	13	33591381	33591381	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:33591381C>T	uc001uus.3	+	0	811	c.803C>T	c.(802-804)gCg>gTg	p.A268V	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	268	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TACCTGGTGGCGCACAACCTC	0.716000														34			8		0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153903495	153903495	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:153903495G>A	uc001fdd.1	-	24	4443	c.4042C>T	c.(4042-4044)Cgg>Tgg	p.R1348W		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	1348										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACAGCAGCCGTACCTGAACA	0.587000														40			6		0	0	1	0	0
ATIC	471	broad.mit.edu	37	2	216211553	216211553	+	Nonsense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:216211553T>G	uc002vex.4	+	13	1579	c.1392T>G	c.(1390-1392)taT>taG	p.Y464*	ATIC_uc010zjo.2_Nonsense_Mutation_p.Y405*|ATIC_uc002vey.4_Nonsense_Mutation_p.Y463*	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	464					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	AGGCAAACTATTGGTGGCTTA	0.453000			T	ALK	ALCL									145			56		0	0	1	0	0
GPR62	118442	broad.mit.edu	37	3	51990245	51990245	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:51990245G>A	uc003dca.4	+	0	916	c.577G>A	c.(577-579)Ggc>Agc	p.G193S		NM_080865	NP_543141	Q9BZJ7	GPR62_HUMAN	Homo sapiens G protein-coupled receptor 62 (GPR62), mRNA.	193						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGGCGCCTACGGCGGCATCTT	0.746000														37			10		0	0	1	0	0
LURAP1L	286343	broad.mit.edu	37	9	12821638	12821638	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:12821638A>G	uc003zkw.3	+	1	1269	c.566A>G	c.(565-567)gAt>gGt	p.D189G		NM_203403	NP_981948	Q8IV03	CI150_HUMAN	Homo sapiens chromosome 9 open reading frame 150 (C9orf150), mRNA.	192																	TTGGCGGATGATGTCCCAGGC	0.532000														189			56		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1667419	1667419	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:1667419C>A	uc002qxa.3	-	11	1589	c.1525G>T	c.(1525-1527)Ggc>Tgc	p.G509C	PXDN_uc002qxb.1_Missense_Mutation_p.G509C	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	509	Ig-like C2-type 3.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTCTGGGAGCCGATGATGTTG	0.567000														227			38		9.39024e-22	1.15418e-21	1	1	0
SEMA4B	10509	broad.mit.edu	37	15	90771368	90771368	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:90771368C>T	uc002boy.3	+	14	2290	c.2007C>T	c.(2005-2007)agC>agT	p.S669S	SEMA4B_uc002boz.3_Silent_p.S669S|SEMA4B_uc010uqd.2_Silent_p.S507S|SEMA4B_uc002bpa.3_Silent_p.S507S	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			TGGTAGCCAGCTACTGCCCAG	0.617000														51			13		0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17973031	17973031	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:17973031C>A	uc002nhp.2	+	3	363	c.328_splice	c.e3+1	p.Y110_splice	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						TCACCCAGTGCTGTAAGCTGC	0.607000														221			38		1.52319e-26	1.90459e-26	1	1	0
TYW1B	441250	broad.mit.edu	37	7	72277809	72277809	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:72277809G>A	uc011kej.2	-	4	732	c.573C>T	c.(571-573)atC>atT	p.I191I	TYW1B_uc011keh.1_Intron|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.	191	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCAGCTGGGAGATGAACTTGG	0.537000														62			5		0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130251746	130251746	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:130251746C>T	uc004brb.2	+	18	1743	c.1371C>T	c.(1369-1371)ttC>ttT	p.F457F	LRSAM1_uc010mxk.2_Silent_p.F457F|LRSAM1_uc004brc.2_Silent_p.F457F|LRSAM1_uc004brd.2_Silent_p.F457F|LRSAM1_uc004bre.2_Silent_p.F37F	NM_001005373	NP_612370	Q6UWE0	LRSM1_HUMAN	Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 2, mRNA.	457					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding	p.F457F(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						AGGCTGCGTTCGAGGCACTCC	0.612000														30			4		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9538310	9538310	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:9538310C>A	uc002wnl.2	-	7	2233	c.1688G>T	c.(1687-1689)gGa>gTa	p.G563V	PAK7_uc002wnk.2_Missense_Mutation_p.G563V|PAK7_uc002wnj.2_Missense_Mutation_p.G563V|PAK7_uc010gby.1_Missense_Mutation_p.G563V	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	563	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GTGAATCACTCCTTGGTTATG	0.438000														89			31		1.80694e-10	2.03462e-10	1	1	0
MLL3	58508	broad.mit.edu	37	7	151842307	151842307	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:151842307G>A	uc003wla.3	-	53	14324	c.14105C>T	c.(14104-14106)gCc>gTc	p.A4702V	MLL3_uc003wkz.3_Missense_Mutation_p.A3820V|MLL3_uc003wkx.3_Missense_Mutation_p.A860V|MLL3_uc003wky.3_Missense_Mutation_p.A2266V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4702					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGTTAACGGCAAGAGGAAG	0.448000			N		medulloblastoma									106			30		0	0	1	0	0
ZNF627	199692	broad.mit.edu	37	19	11727652	11727652	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11727652G>T	uc002msk.2	+	3	542	c.334G>T	c.(334-336)Ggt>Tgt	p.G112C		NM_145295	NP_660338	Q7L945	ZN627_HUMAN	Homo sapiens zinc finger protein 627 (ZNF627), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						AGTTGGCATGGGTCCTTCATC	0.433000														174			32		8.88839e-20	1.08155e-19	1	1	0
PDE7B	27115	broad.mit.edu	37	6	136512832	136512832	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:136512832C>A	uc003qgp.3	+	12	1510	c.1207C>A	c.(1207-1209)Ctg>Atg	p.L403M	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.L455M	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	403	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GGAGAACATGCTGGGCCACCT	0.612000														54			6		8.12818e-05	8.44191e-05	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120295298	120295298	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:120295298C>T	uc001eid.3	-	8	1383	c.1295_splice	c.e8-1	p.G432_splice	HMGCS2_uc010oxj.2_Splice_Site_p.G390_splice|HMGCS2_uc021osw.1_Splice_Site_p.G198_splice	NM_005518	NP_005509	P54868	HMCS2_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) (HMGCS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	432					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGGGGAGAGCCTGGGAAGCAA	0.478000														150			29		0	0	1	0	0
MSC	9242	broad.mit.edu	37	8	72755888	72755888	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:72755888C>T	uc003xyx.1	-	0	844	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_5'Flank|LOC100132891_uc003xyy.3_5'Flank	NM_005098	NP_005089	O60682	MUSC_HUMAN	Homo sapiens musculin (MSC), mRNA.	176					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			ACCAGGTTCACTGGGTGCACG	0.657000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		128			31		0	0	1	0	0
GPR152	390212	broad.mit.edu	37	11	67219976	67219976	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:67219976C>T	uc001olm.3	-	0	225	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	CABP4_uc009yrw.1_Non-coding_Transcript|CABP4_uc001oln.3_5'UTR|CABP4_uc001olo.3_5'Flank	NM_206997	NP_996880	Q8TDT2	GP152_HUMAN	Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA.	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TCAGAGAGGGCCAGGCTGAGC	0.672000														46			5		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143685260	143685260	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143685260C>A	uc010fnm.3	+	4	539	c.323C>A	c.(322-324)cCt>cAt	p.P108H	KYNU_uc002tvk.3_Missense_Mutation_p.P108H|KYNU_uc002tvl.3_Missense_Mutation_p.P108H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	108					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGGAAGCGTCCTTGGATTACA	0.363000														137			48		7.34454e-26	9.16519e-26	1	1	0
GLI1	2735	broad.mit.edu	37	12	57864247	57864247	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:57864247C>T	uc001snx.3	+	11	1818	c.1724C>T	c.(1723-1725)gCa>gTa	p.A575V	GLI1_uc021qzi.1_Missense_Mutation_p.A534V|GLI1_uc009zpq.3_Missense_Mutation_p.A447V	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	575					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	p.G574R(2)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GAGAATGGAGCATCCTCCCTG	0.632000														194			35		0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243468021	243468021	+	Silent	SNP	C	T	T	rs139220760		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:243468021C>T	uc001hzw.3	+	6	851	c.682C>T	c.(682-684)Cta>Tta	p.L228L	SDCCAG8_uc010pyk.2_Silent_p.L83L|SDCCAG8_uc010pyl.2_Silent_p.L40L|SDCCAG8_uc001hzx.3_Silent_p.L40L|SDCCAG8_uc001hzy.1_Silent_p.L76L	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	228	Sufficient for homodimerization (By similarity).				G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		ATAGGAGAAGCTAAAACTTAC	0.259000														30			8		0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105677562	105677562	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105677562G>A	uc001yqp.2	-	16	2256	c.1893C>T	c.(1891-1893)agC>agT	p.S631S	BRF1_uc010tyo.1_Silent_p.S516S|BRF1_uc010typ.1_Silent_p.S538S|BRF1_uc001yqk.2_Silent_p.S157S|BRF1_uc001yql.2_Silent_p.S427S|BRF1_uc001yqo.2_Silent_p.S393S|BRF1_uc010axg.1_Silent_p.S604S|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_3'UTR	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	631					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		ACACGGGCCCGCTCTCCACCA	0.667000														163			38		0	0	1	0	0
HMMR	3161	broad.mit.edu	37	5	162891738	162891738	+	Missense_Mutation	SNP	A	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:162891738A>T	uc003lzh.3	+	2	337	c.155A>T	c.(154-156)cAa>cTa	p.Q52L	HMMR_uc003lzf.3_Missense_Mutation_p.Q52L|HMMR_uc003lzg.3_Missense_Mutation_p.Q52L|HMMR_uc011dem.2_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	52						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		GAATCTAAACAAAATCTTAAT	0.343000														48			15		0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234253	37234253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:37234253C>T	uc002hrg.2	-	10	1311	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	LOC100131347_uc002hre.1_Intron|LOC100131347_uc002hrf.1_Intron|PLXDC1_uc010cvr.1_Missense_Mutation_p.A75T|PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	367					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCAGGGGAGGCTGAGTCGTGG	0.557000														98			27		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42699999	42699999	+	Silent	SNP	C	T	T	rs45477803	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:42699999C>T	uc021xxv.1	+	5	671	c.534C>T	c.(532-534)atC>atT	p.I178I	GHR_uc003jmt.3_Silent_p.I171I|GHR_uc003jmu.3_Silent_p.I171I|GHR_uc003jmv.2_Silent_p.I171I|GHR_uc021xxw.1_Silent_p.I171I|GHR_uc021xxx.1_Silent_p.I171I|GHR_uc021xxy.1_Silent_p.I171I|GHR_uc021xxz.1_Silent_p.I171I|GHR_uc021xya.1_Silent_p.I171I|GHR_uc021xyb.1_Silent_p.I171I|GHR_uc021xyc.1_Silent_p.I171I|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Silent_p.I149I	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	171	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	ATGCAGATATCCAAGTGAGAT	0.418000														95			19		0	0	1	0	0
C1QL3	389941	broad.mit.edu	37	10	16562739	16562739	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:16562739C>T	uc001ioj.1	-	0	1266	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001010908	NP_001010908	Q5VWW1	C1QL3_HUMAN	Homo sapiens complement component 1, q subcomponent-like 3 (C1QL3), mRNA.	109	Collagen-like.					collagen				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CGCGTTCAggccgggcgcccc	0.781000														78			5		0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481113	95481113	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:95481113C>A	uc004asp.1	-	4	1871	c.1814G>T	c.(1813-1815)aGc>aTc	p.S605I	BICD2_uc004aso.1_Missense_Mutation_p.S605I	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	605					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CGAGGGGCTGCTGTCCCCCGT	0.677000														88			26		4.26978e-12	4.90093e-12	1	1	0
CYP4A22	284541	broad.mit.edu	37	1	47610579	47610579	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47610579C>T	uc001cqv.1	+	8	1210	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	CYP4A22_uc009vyo.3_Missense_Mutation_p.P387S|CYP4A22_uc009vyp.3_Missense_Mutation_p.P289S	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	387						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCACCGGTGCCAGGCATTGG	0.557000														75			18		0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120347416	120347416	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:120347416G>T	uc001pxl.2	+	33	3659	c.3324G>T	c.(3322-3324)caG>caT	p.Q1108H	ARHGEF12_uc009zat.3_Missense_Mutation_p.Q1089H|ARHGEF12_uc010rzn.1_Missense_Mutation_p.Q1005H|ARHGEF12_uc009zau.1_Missense_Mutation_p.Q1005H	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1108	PH.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.A1107T(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ATGGCGCTCAGATTTATGAAC	0.383000			T	MLL	AML									76			9		2.17888e-05	2.28139e-05	1	1	0
NPRL3	8131	broad.mit.edu	37	16	150396	150396	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:150396G>A	uc002cfr.3	-	7	865	c.741C>T	c.(739-741)gcC>gcT	p.A247A	NPRL3_uc010uua.1_Non-coding_Transcript|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Silent_p.A169A|NPRL3_uc021szm.1_Silent_p.A222A|NPRL3_uc021szn.1_Silent_p.A222A|NPRL3_uc002cfq.3_Silent_p.A68A	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	247							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						TCCGTTCGATGGCCTCTGGGG	0.602000														26			8		0	0	1	0	0
WDR1	9948	broad.mit.edu	37	4	10099401	10099401	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:10099401C>T	uc021xlv.1	-	4	775	c.492G>A	c.(490-492)acG>acA	p.T164T	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	164					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCGCTTCCCGTGGCCAGCC	0.507000														87			20		0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45353838	45353838	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:45353838C>T	uc002xsl.3	+	1	260	c.163C>T	c.(163-165)Ctc>Ttc	p.L55F		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				GGGCAGCCTGCTCCTGGGGGC	0.592000														101			26		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:139297773G>A	uc003etj.3	-	1	274	c.234C>T	c.(232-234)atC>atT	p.I78I	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.I41I|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity	p.I41I(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						GGTCCACCCGGATCCAGTCGG	0.587000														99			15		0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23528572	23528572	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:23528572G>A	uc001wit.4	-	18	4139	c.3811C>T	c.(3811-3813)Cgg>Tgg	p.R1271W	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.R513W|ACIN1_uc001wiq.4_Missense_Mutation_p.R513W|ACIN1_uc001wir.4_Missense_Mutation_p.R544W|ACIN1_uc001wis.4_Missense_Mutation_p.R952W|ACIN1_uc010akg.3_Missense_Mutation_p.R1258W|ACIN1_uc010tnj.2_Missense_Mutation_p.R1231W	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1271	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGTCGGTTCCGTTCCCGCTCG	0.632000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		101			28		0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62007651	62007651	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:62007651G>A	uc002jdp.1	-	2	299	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567000			"""Mis, O"""		DLBCL									97			20		0	0	1	0	0
GAS6	2621	broad.mit.edu	37	13	114541118	114541118	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:114541118G>A	uc001vud.3	-	5	666	c.513C>T	c.(511-513)tgC>tgT	p.C171C	GAS6_uc001vuf.3_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	171	EGF-like 2; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GCTTGTTGTGGCAGATCTGGA	0.622000														200			23		0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409450	204409450	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:204409450C>T	uc001haw.3	-	23	3729	c.3250_splice	c.e23-1	p.C1084_splice	PIK3C2B_uc010pqv.2_Splice_Site_p.C1056_splice	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1084	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CGTCCCCACACTGGATGGAGG	0.552000														147			52		0	0	1	0	0
LYST	1130	broad.mit.edu	37	1	235970023	235970023	+	Missense_Mutation	SNP	C	T	T	rs80338647		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235970023C>T	uc001hxj.2	-	5	2588	c.2413G>A	c.(2413-2415)Gaa>Aaa	p.E805K	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.E805K	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	805					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.E805K(2)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAATTTAATTCGATTATTTGA	0.318000														91			13		0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42083774	42083774	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42083774G>T	uc002ore.4	+	1	383	c.287G>T	c.(286-288)aGc>aTc	p.S96I	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.S96I	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	96						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCTGCATACAGCGGTCGAGAG	0.493000														96			17		1.02788e-11	1.17486e-11	1	1	0
HECW2	57520	broad.mit.edu	37	2	197157417	197157417	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197157417G>A	uc002utm.1	-	13	3055	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	HECW2_uc002utl.1_Missense_Mutation_p.R602W	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	958	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTGTCCCTCCGGACTTTGGTG	0.493000														105			18		0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5832882	5832882	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:5832882C>T	uc002qyj.3	+	0	84	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_003108	NP_003099	P35716	SOX11_HUMAN	Homo sapiens SRY (sex determining region Y)-box 11 (SOX11), mRNA.	10					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|enhancer sequence-specific DNA binding|translation factor activity, nucleic acid binding			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		AGCTTGGAAGCGGAGAGCAAC	0.697000														54			6		0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836217	68836217	+	Missense_Mutation	SNP	G	A	A	rs41539891		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:68836217G>A	uc004dxs.3	+	0	307	c.65G>A	c.(64-66)aGc>aAc	p.S22N	EDA_uc011mpj.2_Missense_Mutation_p.S22N|EDA_uc004dxr.3_Missense_Mutation_p.S22N|EDA_uc004dxm.1_Missense_Mutation_p.S22N|EDA_uc004dxn.1_Missense_Mutation_p.S22N|EDA_uc004dxp.1_Missense_Mutation_p.S22N|EDA_uc004dxq.1_Missense_Mutation_p.S22N	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	22					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GAGCGAGGGAGCCAGGGCTGC	0.716000														80			7		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34663476	34663476	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:34663476C>T	uc001bxt.3	+	1	1809	c.971C>T	c.(970-972)cCc>cTc	p.P324L	C1orf94_uc001bxs.4_Missense_Mutation_p.P134L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	134							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTTCCAAGCCCAAGGCTGAC	0.617000														86			7		0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8138511	8138511	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:8138511G>T	uc002gkq.4	-	7	1358	c.1299C>A	c.(1297-1299)agC>agA	p.S433R	CTC1_uc010cnv.3_Non-coding_Transcript	NM_025099	NP_079375	Q2NKJ3	CTC1_HUMAN	Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.	433					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACGAGAGAAGCTTTGAAGCA	0.627000														210			54		9.59835e-30	1.20768e-29	1	1	0
H19	283120	broad.mit.edu	37	11	2016499	2016499	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:2016499C>T	uc021qbx.1	-	0		c.305G>A			H19_uc021qby.1_Non-coding_Transcript|H19_uc001lva.4_Non-coding_Transcript|H19_uc021qbz.1_Non-coding_Transcript					Homo sapiens PRO2605 mRNA, complete cds.																		TAATGGAATGCTTGAAGGCTG	0.607000									Beckwith-Wiedemann syndrome					134			23		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48313692	48313692	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48313692G>A	uc003toq.2	+	16	4453	c.4429G>A	c.(4429-4431)Gtc>Atc	p.V1477I	ABCA13_uc010kyr.2_Missense_Mutation_p.V980I|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1477					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACTTACTACAGTCTTTGAAAA	0.279000														21			7		0	0	1	0	0
TAF6L	10629	broad.mit.edu	37	11	62549675	62549675	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:62549675C>T	uc001nvc.3	+	7	898	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S	TAF6L_uc009yof.3_Missense_Mutation_p.P233S	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN	Homo sapiens TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa (TAF6L), mRNA.	233					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|histone deacetylase complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GTGCTTGGGGCCCTATGTCCG	0.597000														216			38		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152749391	152749391	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:152749391C>A	uc021zhb.1	-	34	5148	c.4925G>T	c.(4924-4926)aGg>aTg	p.R1642M	SYNE1_uc003qot.4_Missense_Mutation_p.R1649M|SYNE1_uc003qou.4_Missense_Mutation_p.R1642M|SYNE1_uc010kjb.1_Missense_Mutation_p.R1625M|SYNE1_uc003qow.3_Missense_Mutation_p.R937M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1642					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCTTCGCCCTCCTTAGGAT	0.532000										HNSCC(10;0.0054)				428			16		1.15088e-07	1.24477e-07	1	1	0
SLC34A3	142680	broad.mit.edu	37	9	140128878	140128878	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:140128878C>T	uc022bqf.1	+	10	1325	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SLC34A3_uc011met.2_Silent_p.F368F|SLC34A3_uc004cmf.1_Silent_p.F368F	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	368					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		ACTTCCCCTTCCCGCTGGGCT	0.716000														60			13		0	0	1	0	0
AKR1B1	231	broad.mit.edu	37	7	134133231	134133231	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:134133231T>C	uc003vrp.1	-	5	641	c.567A>G	c.(565-567)ccA>ccG	p.P189P		NM_001628	NP_001619	P15121	ALDR_HUMAN	Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA.	189					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	GAGTGAGATATGGGTGGCACT	0.532000														62			7		0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514521	56514521	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:56514521C>T	uc001sjp.1	+	2	364	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	ZC3H10_uc021qyw.1_Missense_Mutation_p.R59C	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	59							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			TTGCCGATATCGCCACCCAGA	0.567000														211			9		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369632	126369632	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126369632G>A	uc003ifj.4	+	8	7461	c.7461G>A	c.(7459-7461)gcG>gcA	p.A2487A	FAT4_uc011cgp.2_Silent_p.A785A|FAT4_uc003ifi.1_5'UTR	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2487	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCTTTGCGGTTACAGTCA	0.368000														123			21		0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25601329	25601329	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:25601329C>T	uc003abo.1	+	5	542	c.470_splice	c.e5+1	p.T157_splice		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	157	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATCAACGGGACGTAAGGGACC	0.532000														50			10		0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58381795	58381795	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:58381795C>T	uc001nmx.4	+	8	1249	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	ZFP91_uc001nmy.4_Nonsense_Mutation_p.R360*|CNTF_uc010rkm.2_Non-coding_Transcript	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN	Homo sapiens zinc finger protein 91 homolog (mouse) (ZFP91), transcript variant 1, mRNA.	361	Interaction with MAP3K14/NIK.				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCAACTTCTGCGACATGCCAA	0.388000														70			9		0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48259027	48259027	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:48259027G>A	uc003toq.2	+	3	388	c.364G>A	c.(364-366)Gca>Aca	p.A122T	ABCA13_uc003top.2_Missense_Mutation_p.A122T|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	122					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAAGACCTGGCAGAGGAAAT	0.398000														99			36		0	0	1	0	0
C4orf22	255119	broad.mit.edu	37	4	81504321	81504321	+	Missense_Mutation	SNP	G	A	A	rs150179610	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:81504321G>A	uc010ijp.3	+	2	366	c.317G>A	c.(316-318)cGc>cAc	p.R106H	C4orf22_uc003hmf.3_Missense_Mutation_p.R106H	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	106										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						GAAGACAATCGCAGTGGAAAA	0.343000														68			9		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091237	74091237	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091237C>T	uc021ulp.1	-	3	3151	c.2833G>A	c.(2833-2835)Gcc>Acc	p.A945T	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S944L(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TTGCTATTGGCCGAGGGCTGC	0.677000														153			27		0	0	1	0	0
ECHDC1	55862	broad.mit.edu	37	6	127611094	127611094	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:127611094C>T	uc003qax.3	-	5	880	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	ECHDC1_uc003qaz.4_Missense_Mutation_p.E276K|ECHDC1_uc010key.3_Missense_Mutation_p.E201K|ECHDC1_uc003qay.4_3'UTR|ECHDC1_uc010kez.3_3'UTR	NM_001139510	NP_001099014	Q9NTX5	ECHD1_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 1 (ECHDC1), transcript variant 5, mRNA.	282							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AGATCTCTTTCGTTCTGTAAT	0.383000														120			36		0	0	1	0	0
TMEM64	169200	broad.mit.edu	37	8	91637980	91637980	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:91637980G>A	uc003yen.2	-	2	1062	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	TMEM64_uc003yeo.2_Silent_p.G93G|TMEM64_uc011lgf.1_Silent_p.G302G	NM_001008495	NP_001008495	Q6YI46	TMM64_HUMAN	Homo sapiens transmembrane protein 64 (TMEM64), transcript variant 1, mRNA.	354						integral to membrane				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			TTGGTTGATTGCCTTTAACCA	0.388000														64			13		0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63978299	63978299	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:63978299C>T	uc001nyl.2	+	2	526	c.377C>T	c.(376-378)gCc>gTc	p.A126V	FERMT3_uc001nym.2_Missense_Mutation_p.A126V	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	126					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTGTGGCTGCCATCTGCCGC	0.662000														267			51		0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102040565	102040565	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:102040565C>T	uc001tii.3	+	10	1055	c.915C>T	c.(913-915)tgC>tgT	p.C305C	MYBPC1_uc001tif.2_Silent_p.C318C|MYBPC1_uc001tig.3_Silent_p.C330C|MYBPC1_uc010svr.2_Silent_p.C305C|MYBPC1_uc010svs.2_Silent_p.C305C|MYBPC1_uc001tij.3_Silent_p.C305C|MYBPC1_uc010svt.2_Silent_p.C293C|MYBPC1_uc010svu.2_Silent_p.C286C|MYBPC1_uc001tik.3_Silent_p.C279C|MYBPC1_uc001tih.3_Silent_p.C330C|MYBPC1_uc010svq.2_Silent_p.C292C	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	305	Ig-like C2-type 2.			HKGCQRILFIN -> DTRCQSILNID (in Ref. 1; CAA46987).	cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACAAAGGATGCCAGAGAATCC	0.363000														60			14		0	0	1	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235647766	235647766	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:235647766G>A	uc001hxc.2	-	3	656	c.427C>T	c.(427-429)Cga>Tga	p.R143*	B3GALNT2_uc001hxd.1_Nonsense_Mutation_p.R184*	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	143					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CTGACAACTCGATCCTCAGGC	0.448000														232			58		0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138602176	138602176	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:138602176C>T	uc011kql.2	-	1	2245	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A	KIAA1549_uc011kqj.2_Silent_p.A732A	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	732	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAACCGTAGACGCTTCAACAA	0.463000			O	BRAF	pilocytic astrocytoma									90			14		0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97851957	97851957	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:97851957G>T	uc011bgt.2	+	0	416	c.416G>T	c.(415-417)gGa>gTa	p.G139V		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ATGACCAATGGACTGTGCATC	0.393000														191			29		2.52637e-11	2.87508e-11	1	1	0
RNF43	54894	broad.mit.edu	37	17	56435680	56435680	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:56435680C>A	uc002iwf.3	-	7	3413	c.1457G>T	c.(1456-1458)aGc>aTc	p.S486I	RNF43_uc010wnv.2_Missense_Mutation_p.S445I|RNF43_uc002iwh.4_Missense_Mutation_p.S486I|RNF43_uc002iwg.4_Missense_Mutation_p.S486I|RNF43_uc010dcw.3_Missense_Mutation_p.S359I	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	486	Ser-rich.					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCCCTGTAGGCTGATGTCCGT	0.587000														196			36		6.05902e-23	7.48453e-23	1	1	0
ZNF221	7638	broad.mit.edu	37	19	44470613	44470613	+	Missense_Mutation	SNP	G	A	A	rs140615014		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44470613G>A	uc002oxx.2	+	5	1287	c.959G>A	c.(958-960)cGt>cAt	p.R320H	ZNF221_uc010ejb.1_Missense_Mutation_p.R320H|ZNF221_uc010xws.1_Missense_Mutation_p.R320H	NM_013359	NP_037491	Q9UK13	ZN221_HUMAN	Homo sapiens zinc finger protein 221 (ZNF221), mRNA.	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AAGAGCTTCCGTGTTAGATCA	0.413000														218			49		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32072826	32072826	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32072826C>A	uc003alo.2	-	5	5811	c.5755G>T	c.(5755-5757)Gtc>Ttc	p.V1919F		NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	0										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						CAGCAAAGGACTAGCAGCCTC	0.652000														23			5		3.59834e-05	3.75534e-05	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777426	43777426	+	Missense_Mutation	SNP	G	T	T	rs138413325		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:43777426G>T	uc010skx.2	-	30	4732	c.4732C>A	c.(4732-4734)Ctt>Att	p.L1578I		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1578	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTGGATGTAAGAGATATGGTT	0.373000														46			10		2.17888e-05	2.28139e-05	1	1	0
N4BP3	23138	broad.mit.edu	37	5	177547450	177547450	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177547450C>A	uc003mik.1	+	2	849	c.602C>A	c.(601-603)cCt>cAt	p.P201H	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	201						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTCGCAGTCCTGGTACTGGC	0.677000														228			61		6.75472e-32	8.52209e-32	1	1	0
RET	5979	broad.mit.edu	37	10	43623580	43623580	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:43623580C>T	uc001jal.3	+	19	3398	c.3208C>T	c.(3208-3210)Cct>Tct	p.P1070S		NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1070					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCCGAACTGGCCTGGAGAGAG	0.448000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma					220			39		0	0	1	0	0
TAAR6	319100	broad.mit.edu	37	6	132892109	132892109	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:132892109T>C	uc011eck.2	+	0	649	c.649T>C	c.(649-651)Tat>Cat	p.Y217H		NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN	Homo sapiens trace amine associated receptor 6 (TAAR6), mRNA.	217						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GATAATTCTGTATGGTAACAT	0.383000														79			17		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22849626	22849626	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:22849626C>T	uc002yld.2	+	14	2160	c.1911C>T	c.(1909-1911)gaC>gaT	p.D637D	NCAM2_uc011acb.2_Silent_p.D495D	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	637	Fibronectin type-III 2.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATAAGGAAGACCAATGGCTAG	0.348000														62			12		0	0	1	0	0
STAT4	6775	broad.mit.edu	37	2	191905836	191905836	+	Silent	SNP	C	T	T	rs145312304		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:191905836C>T	uc002usm.2	-	14	1605	c.1290G>A	c.(1288-1290)acG>acA	p.T430T	STAT4_uc002usn.2_Silent_p.T430T|STAT4_uc010zgk.1_Silent_p.T275T|STAT4_uc002uso.2_Silent_p.T430T	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	430					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GTGTTTCAAACGTTATGGAAT	0.383000														115			28		0	0	1	0	0
TIFA	92610	broad.mit.edu	37	4	113199287	113199287	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:113199287G>A	uc003ial.3	-	1	568	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	TIFA_uc021xqt.1_Silent_p.L96L	NM_052864	NP_443096	Q96CG3	TIFA_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain (TIFA), mRNA.	96	FHA.						protein binding			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		TCCACGATCAGATTGGTCTTT	0.413000														77			18		0	0	1	0	0
MAPK15	225689	broad.mit.edu	37	8	144801568	144801568	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144801568C>T	uc003yzj.3	+	6	678	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	213	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGAGATGCTGCGGGGGAGACC	0.647000														101			21		0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47297832	47297832	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:47297832T>G	uc002xtw.1	-	10	1399	c.1376A>C	c.(1375-1377)aAg>aCg	p.K459T		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	459	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding	p.S458R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTCTTCCGTCTTGCTGATTTC	0.542000														405			80		0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208257763	208257763	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:208257763G>A	uc001hgz.3	-	9	3018	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	754					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGTTGAAGCGCAGAGCGGGG	0.622000														181			66		0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74091857	74091857	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:74091857C>T	uc021ulp.1	-	3	2531	c.2213G>A	c.(2212-2214)aGg>aAg	p.R738K	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A737V(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCGCGTCGACCTCGCACTTAA	0.592000														97			22		0	0	1	0	0
EDEM2	55741	broad.mit.edu	37	20	33719541	33719541	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:33719541C>T	uc002xbo.2	-	6	848	c.748G>A	c.(748-750)Gac>Aac	p.D250N	EDEM2_uc010zuv.1_Missense_Mutation_p.D209N|EDEM2_uc010zus.1_Missense_Mutation_p.D29N|EDEM2_uc002xbq.2_Missense_Mutation_p.D213N|EDEM2_uc010zut.1_Missense_Mutation_p.D209N|EDEM2_uc002xbn.2_Missense_Mutation_p.D98N|EDEM2_uc010zuu.1_5'UTR	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	250					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATGCCTGCGTCCTGGGCCACC	0.557000														346			13		0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36339963	36339963	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:36339963T>G	uc002oby.3	-	7	1083	c.927A>C	c.(925-927)gaA>gaC	p.E309D		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	309	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCATGGTCTTCTGGCCTCA	0.657000														194			42		0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69725929	69725929	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:69725929C>T	uc002exm.2	+	11	2483	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	NFAT5_uc002exj.2_Missense_Mutation_p.T640I|NFAT5_uc002exk.2_Missense_Mutation_p.T640I|NFAT5_uc002exl.2_Missense_Mutation_p.T734I|NFAT5_uc002exn.2_Missense_Mutation_p.T733I|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Missense_Mutation_p.T640I	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	716					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACAAGAGAAACTCAGTCTAGA	0.453000														115			25		0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79029439	79029439	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:79029439G>T	uc003kgc.3	+	1	4923	c.4851G>T	c.(4849-4851)gaG>gaT	p.E1617D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1617						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTTTGGCAGAGCTGTCTTTGG	0.443000														139			28		7.41945e-09	8.17068e-09	1	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57068363	57068363	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:57068363G>A	uc001njr.3	-	8	5436	c.5124C>T	c.(5122-5124)tcC>tcT	p.S1708S	TNKS1BP1_uc001njq.3_Silent_p.S281S|TNKS1BP1_uc001njs.3_Silent_p.S1708S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1708	Arg/Glu/Lys-rich (charged).				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCTACCCTGAGGATTTCTCTG	0.552000														220			49		0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154832830	154832830	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:154832830G>T	uc010hvr.1	+	3	455	c.244G>T	c.(244-246)Gac>Tac	p.D82Y	MME_uc003fab.1_Missense_Mutation_p.D82Y|MME_uc003fac.1_Missense_Mutation_p.D82Y|MME_uc003fad.1_Missense_Mutation_p.D82Y|MME_uc003fae.1_Missense_Mutation_p.D82Y	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	82					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GCCTTGTACAGACTTTTTCAA	0.433000														179			13		1.61879e-10	1.82465e-10	1	1	0
KIAA1522	57648	broad.mit.edu	37	1	33235788	33235788	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33235788G>A	uc001bvu.1	+	5	1052	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	KIAA1522_uc010ohm.1_Silent_p.E288E|KIAA1522_uc001bvv.2_Silent_p.E277E|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	277	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GGCCTGCAGAGCCCCTGAGCC	0.652000														191			20		0	0	1	0	0
DAB2	1601	broad.mit.edu	37	5	39381710	39381710	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:39381710G>A	uc003jlx.3	-	10	1881	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	DAB2_uc003jlw.3_Silent_p.A429A	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	450					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GCAAGTCATTGGCTGAAGACT	0.522000														128			25		0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333707	21333707	+	Silent	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:21333707T>G	uc003zoy.3	-	0	1723	c.1152A>C	c.(1150-1152)tcA>tcC	p.S384S	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	384					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		TTTCATTTAATGATGCAACCT	0.413000														90			27		0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138643992	138643992	+	Silent	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:138643992T>C	uc003ldw.3	+	2	1291	c.888T>C	c.(886-888)tgT>tgC	p.C296C	MATR3_uc003lds.3_Silent_p.C296C|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Silent_p.C296C|MATR3_uc010jfb.3_Silent_p.C296C|MATR3_uc003ldx.3_Silent_p.C296C|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Silent_p.C296C|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	296						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GCTCTATATGTGATTTGCCAG	0.383000														144			42		0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297875	197297875	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197297875C>T	uc001gtz.3	+	1	603	c.394C>T	c.(394-396)Cct>Tct	p.P132S	CRB1_uc010poz.2_Missense_Mutation_p.P63S|CRB1_uc001gty.2_Missense_Mutation_p.P132S|CRB1_uc009wza.3_Missense_Mutation_p.P132S|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.P132S	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	132	EGF-like 3.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CCCTATTTATCCTGTCTGCAT	0.512000														58			15		0	0	1	0	0
INF2	64423	broad.mit.edu	37	14	105181089	105181089	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:105181089C>T	uc001ypb.2	+	20	3733	c.3590C>T	c.(3589-3591)gCg>gTg	p.A1197V	INF2_uc001ypc.2_Missense_Mutation_p.A1197V|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	1197					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TCCGAGGATGCGGTGACCGAC	0.687000														52			9		0	0	1	0	0
GCC1	79571	broad.mit.edu	37	7	127223015	127223015	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:127223015C>A	uc003vma.3	-	1	1799	c.1381G>T	c.(1381-1383)Gac>Tac	p.D461Y		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	461						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATCTCCAGGTCACAGAGCTTC	0.527000														246			44		1.61004e-24	2.0018e-24	1	1	0
UPP2	151531	broad.mit.edu	37	2	158958634	158958634	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:158958634T>C	uc002tzo.3	+	2	250	c.230T>C	c.(229-231)gTt>gCt	p.V77A	UPP2_uc002tzp.3_Missense_Mutation_p.V20A	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	20					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AATACATATGTTGGGTGAGTA	0.353000														130			28		0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	814919	814919	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:814919C>T	uc002cjw.2	+	6	504	c.393C>T	c.(391-393)ttC>ttT	p.F131F	MSLN_uc002cju.1_Silent_p.F131F|MSLN_uc002cjt.1_Silent_p.F131F|MSLN_uc010brd.1_Silent_p.F130F|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	131					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CAGATGCGTTCTCGGGGCCCC	0.687000														58			18		0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4855240	4855240	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:4855240C>T	uc002wlg.1	-	9	1302	c.927G>A	c.(925-927)caG>caA	p.Q309Q	SLC23A2_uc010zqr.1_Silent_p.Q194Q|SLC23A2_uc002wlh.1_Silent_p.Q309Q|SLC23A2_uc002wli.3_Silent_p.Q308Q	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	309					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTTTGAACAGCTGTAACTTGT	0.383000														157			36		0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29196541	29196541	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29196541C>T	uc002hfs.1	+	13	3827	c.3484C>T	c.(3484-3486)Cgc>Tgc	p.R1162C	ATAD5_uc002hft.1_Missense_Mutation_p.R1059C	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	1162					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	p.R1162H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				CTCTTCCCAGCGCAGTGGTAG	0.353000														78			19		0	0	1	0	0
CCDC18	343099	broad.mit.edu	37	1	93701841	93701841	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:93701841G>A	uc021opx.1	+	18	2658	c.2497G>A	c.(2497-2499)Gaa>Aaa	p.E833K	CCDC18_uc009wdl.1_Missense_Mutation_p.E468K	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	832										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AAAACAAAGGGAAAGTTCAGC	0.328000														69			11		0	0	1	0	0
KLC1	3831	broad.mit.edu	37	14	104143826	104143826	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:104143826C>T	uc001yno.3	+	11	1762	c.1454C>T	c.(1453-1455)aCg>aTg	p.T485M	KLC1_uc010tyd.1_Missense_Mutation_p.T644M|KLC1_uc010tye.1_Missense_Mutation_p.T481M|KLC1_uc001ynm.1_Missense_Mutation_p.T485M|KLC1_uc010tyf.2_Missense_Mutation_p.T485M|KLC1_uc021seh.1_Non-coding_Transcript|KLC1_uc001ynr.1_5'UTR|KLC1_uc010awu.1_Non-coding_Transcript|KLC1_uc001ynq.1_5'UTR|KLC1_uc001ynp.1_Non-coding_Transcript|KLC1_uc001yns.3_Non-coding_Transcript	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	485					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				GCTGCAGAAACGTTAGAAGAA	0.418000														132			23		0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891240	18891240	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:18891240G>T	uc001rdy.3	+	0	196	c.38G>T	c.(37-39)aGa>aTa	p.R13I	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	13					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACAAGGAAAGAGTAATTCGC	0.428000														116			7		2.0095e-06	2.13635e-06	1	1	0
NBEAL1	65065	broad.mit.edu	37	2	204016309	204016309	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:204016309C>T	uc002uzt.3	+	33	5830	c.5497C>T	c.(5497-5499)Ctg>Ttg	p.L1833L	NBEAL1_uc021vvj.1_Silent_p.L536L	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1833							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAGAGATAATCTGGGTGAGTT	0.358000														57			10		0	0	1	0	0
GRWD1	83743	broad.mit.edu	37	19	48953707	48953707	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:48953707C>T	uc002pjd.2	+	3	839	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	202						nucleolus		p.A202G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ATGAGCAGGCCCAAATGAAGC	0.657000														186			35		0	0	1	0	0
ATP5G3	518	broad.mit.edu	37	2	176043125	176043125	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:176043125G>T	uc002ujz.4	-	3	590	c.320C>A	c.(319-321)cCt>cAt	p.P107H	ATP5G3_uc002uka.4_Missense_Mutation_p.P107H|ATP5G3_uc002ukb.2_3'UTR	NM_001002258	NP_001680	P48201	AT5G3_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9) (ATP5G3), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	107					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(117;0.147)			CTTCAGCGAAGGGTTTCTAAA	0.363000														107			12		1.08611e-07	1.17606e-07	1	1	0
PSMC2	5701	broad.mit.edu	37	7	103008360	103008360	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:103008360C>T	uc003vbs.3	+	11	1349	c.1161C>T	c.(1159-1161)agC>agT	p.S387S	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|PSMC2_uc011klo.2_Silent_p.S250S	NM_002803	NP_002794	P35998	PRS7_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 2 (PSMC2), transcript variant 1, mRNA.	387					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding	p.S387S(2)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AGATTAGAAGCGTCTGCACAG	0.408000														110			24		0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35443205	35443205	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35443205A>G	uc003oku.4	-	11	1338	c.1102T>C	c.(1102-1104)Tgc>Cgc	p.C368R	TEAD3_uc003okt.3_Missense_Mutation_p.C257R|TEAD3_uc010jvx.3_Missense_Mutation_p.C308R	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	368	Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATGTACTCGCACATGGGCGAG	0.557000														131			13		0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20066559	20066559	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20066559C>T	uc010rdm.2	+	14	3675	c.3314C>T	c.(3313-3315)cCt>cTt	p.P1105L	NAV2_uc001mpp.3_Missense_Mutation_p.P1018L|NAV2_uc001mpr.4_Missense_Mutation_p.P1082L|NAV2_uc021qew.1_Missense_Mutation_p.P1082L|NAV2_uc001mpt.2_Missense_Mutation_p.P168L|NAV2_uc009yhx.3_Missense_Mutation_p.P168L|NAV2_uc009yhy.1_Missense_Mutation_p.P81L	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1105						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGGCTTTCTCCTAAAGCCTCC	0.542000														94			16		0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45265679	45265679	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:45265679G>T	uc001myq.2	-	5	1331	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	SYT13_uc009yku.1_Missense_Mutation_p.S258Y	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	402						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GCTGCGCTCAGAGCCCGAGGT	0.647000														156			46		1.23713e-20	1.51229e-20	1	1	0
FREM2	341640	broad.mit.edu	37	13	39264040	39264040	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:39264040C>T	uc001uwv.3	+	0	2868	c.2559C>T	c.(2557-2559)caC>caT	p.H853H		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	853					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAGAGTTGCACGTGAATGATG	0.502000														83			23		0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420163	74420163	+	Silent	SNP	G	A	A	rs141339758	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:74420163G>A	uc001vjf.3	-	3	693	c.471C>T	c.(469-471)ggC>ggT	p.G157G	KLF12_uc010aeq.3_Silent_p.G157G|KLF12_uc001vjg.3_Silent_p.G157G	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	157					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		AAAACTGCTGGCCTCCAACAC	0.498000														58			14		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	947071	947071	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:947071C>A	uc003gbq.3	+	7	654	c.556C>A	c.(556-558)Ctg>Atg	p.L186M	TMEM175_uc010ibl.1_Missense_Mutation_p.L186M|TMEM175_uc003gbp.1_Missense_Mutation_p.L104M|TMEM175_uc003gbs.3_Missense_Mutation_p.L69M|TMEM175_uc003gbt.3_Missense_Mutation_p.L69M|TMEM175_uc003gbr.3_Missense_Mutation_p.L104M	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	186						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACGACACGTCCTGGGCATCGT	0.647000														117			26		1.64293e-13	1.91604e-13	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3216710	3216710	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:3216710G>A	uc022aqr.1	-	20	3658	c.3268C>T	c.(3268-3270)Cgc>Tgc	p.R1090C	CSMD1_uc011kwj.2_Missense_Mutation_p.R483C|CSMD1_uc003wqe.3_Missense_Mutation_p.R247C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1091	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACACACGGCGGCCCCCACCC	0.552000														174			31		0	0	1	0	0
TM7SF3	51768	broad.mit.edu	37	12	27152544	27152544	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:27152544C>A	uc010sjl.2	-	2	550	c.312G>T	c.(310-312)gaG>gaT	p.E104D		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	104						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					ATGTACTCTGCTCTGGTCTAA	0.473000														110			16		6.72482e-11	7.60803e-11	1	1	0
ZNF577	84765	broad.mit.edu	37	19	52375983	52375983	+	Silent	SNP	T	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:52375983T>A	uc010yde.2	-	6	1651	c.1260A>T	c.(1258-1260)tcA>tcT	p.S420S	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Silent_p.S361S|ZNF577_uc002pxv.3_Silent_p.S413S|ZNF577_uc002pxw.3_Silent_p.S354S	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCGGGGTTCCTGAGGAAGGCA	0.433000														114			21		0	0	1	0	0
EEPD1	80820	broad.mit.edu	37	7	36194638	36194638	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36194638A>G	uc003tfa.3	+	1	1345	c.705A>G	c.(703-705)ccA>ccG	p.P235P		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA.	235					DNA repair		DNA binding	p.P234P(1)		endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ACCTGCCGCCAGGGGGGCCCA	0.667000														99			16		0	0	1	0	0
MPV17L2	84769	broad.mit.edu	37	19	18305857	18305857	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18305857G>A	uc010ebj.3	+	1	875	c.256G>A	c.(256-258)Gct>Act	p.A86T	MPV17L2_uc002nid.3_Silent_p.T175T			Q567V2	M17L2_HUMAN	Homo sapiens MPV17 mitochondrial membrane protein-like 2 (MPV17L2), nuclear gene encoding mitochondrial protein, mRNA.	0						integral to membrane				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACGGCCTGACGCTGGGCTGGG	0.622000														194			49		0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79933430	79933430	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:79933430C>T	uc004akr.3	+	40	5496	c.5236C>T	c.(5236-5238)Ctg>Ttg	p.L1746L	VPS13A_uc004akp.4_Silent_p.L1746L|VPS13A_uc004akq.4_Silent_p.L1746L|VPS13A_uc004aks.3_Silent_p.L1707L|VPS13A_uc004akt.3_Silent_p.L86L|VPS13A_uc010mpo.1_Silent_p.L342L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1746					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						ACCTATGCTTCTGGCAAAGTC	0.378000														105			11		0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9786068	9786068	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:9786068T>G	uc003bse.3	+	8	3177	c.2778T>G	c.(2776-2778)agT>agG	p.S926R	BRPF1_uc003bsf.3_Missense_Mutation_p.S932R|BRPF1_uc003bsg.3_Missense_Mutation_p.S925R|BRPF1_uc011ati.2_Intron	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	926	Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACGGAGGCAGTCCTGTGGGGC	0.657000														65			14		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1414156	1414156	+	Nonsense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:1414156G>T	uc003boz.3	+	12	1933	c.1666G>T	c.(1666-1668)Gga>Tga	p.G556*	CNTN6_uc011asj.2_Nonsense_Mutation_p.G484*|CNTN6_uc003bpa.3_Nonsense_Mutation_p.G556*	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	556	Ig-like C2-type 6.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGGATTGGAGGAGTAAGTTA	0.348000														57			10		2.17888e-05	2.28139e-05	1	1	0
ACAN	176	broad.mit.edu	37	15	89400745	89400745	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89400745C>A	uc010upo.1	+	11	5303	c.4929C>A	c.(4927-4929)ccC>ccA	p.P1643P	ACAN_uc010upp.1_Silent_p.P1643P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1643					cell adhesion		hyaluronic acid binding|sugar binding	p.S1642S(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGGCCCACCCTCTGGCCTGC	0.522000														226			41		2.19962e-31	2.77403e-31	1	1	0
PRAM1	84106	broad.mit.edu	37	19	8555240	8555240	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8555240C>T	uc002mkd.3	-	8	2020	c.1957G>A	c.(1957-1959)Gat>Aat	p.D653N		NM_032152	NP_115528	Q96QH2	PRAM_HUMAN	Homo sapiens PML-RARA regulated adaptor molecule 1 (PRAM1), mRNA.	701	SH3.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						TCGACATCATCGTACACCTCC	0.662000														89			27		0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10775953	10775953	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:10775953C>T	uc002czz.1	-	3	832	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	254					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTTTTGTCTTCGAGGTCCCTC	0.542000														275			54		0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162834231	162834231	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162834231G>A	uc002ubx.4	+	26	3529	c.3345_splice	c.e26-1	p.S1115_splice	SLC4A10_uc010zcs.2_Splice_Site_p.S1096_splice|SLC4A10_uc002uby.4_Splice_Site_p.S1085_splice	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	1115					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTGTCATAAGCTCCCCTTCC	0.328000														103			25		0	0	1	0	0
SLX4	84464	broad.mit.edu	37	16	3640331	3640331	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3640331C>T	uc002cvp.2	-	11	3935	c.3308G>A	c.(3307-3309)cGt>cAt	p.R1103H		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1103	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CACGGACCGACGCTCTTTGCC	0.532000								Direct reversal of damage						259			54		0	0	1	0	0
NFKB1	4790	broad.mit.edu	37	4	103534584	103534584	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:103534584C>A	uc011ceq.2	+	22	3059	c.2592C>A	c.(2590-2592)gtC>gtA	p.V864V	NFKB1_uc011cep.2_Silent_p.V865V|NFKB1_uc011cer.2_Silent_p.V684V	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	864	Death.|Interaction with CFLAR.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	I-kappaB/NF-kappaB complex|cytosol|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTCACAGGTCTCTGGGGGTA	0.557000														111			17		8.34094e-07	8.90579e-07	1	1	0
CD320	51293	broad.mit.edu	37	19	8367489	8367489	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:8367489G>A	uc002mjj.2	-	5	773	c.707_splice	c.e5-1	p.A236_splice	CD320_uc002mjl.2_Splice_Site_p.A194_splice|CD320_uc002mjk.2_Splice_Site	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	Homo sapiens CD320 molecule (CD320), transcript variant 1, mRNA.	236	Poly-Ala.				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)	6						ACTGAGCACCGCTGTGGGGAA	0.622000														115			29		0	0	1	0	0
CTR9	9646	broad.mit.edu	37	11	10783548	10783548	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:10783548C>T	uc001mja.3	+	6	945	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	266					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TACTATTGATCCTAGCAACCC	0.328000														45			8		0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3265980	3265980	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:3265980G>A	uc010uwv.2	+	0	419	c.271G>A	c.(271-273)Gcc>Acc	p.A91T						Homo sapiens olfactory receptor, family 1, subfamily F, member 2 (OR1F2P), non-coding RNA.																		CCGCTTTGTCGCCGTGTGCCG	0.522000														108			29		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14798938	14798938	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:14798938G>A	uc003byy.3	+	12	2453	c.2001G>A	c.(1999-2001)ccG>ccA	p.P667P	C3orf20_uc003byz.3_Silent_p.P545P|C3orf20_uc003bza.3_Silent_p.P545P|C3orf20_uc003bzb.1_Silent_p.P168P|C3orf20_uc011avj.2_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	667						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						CAGACTGCCCGCTGGTGCTGC	0.672000														122			35		0	0	1	0	0
PYROXD1	79912	broad.mit.edu	37	12	21598390	21598390	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:21598390G>T	uc001rew.3	+	2	402	c.275G>T	c.(274-276)aGt>aTt	p.S92I	PYROXD1_uc009ziq.3_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	92							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						CAACTGAAGAGTGAAGAACAC	0.363000														32			3		0.004672	0.00474578	1	1	0
FRMD4A	55691	broad.mit.edu	37	10	13743470	13743470	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:13743470A>G	uc001ims.3	-	13	1197	c.845T>C	c.(844-846)gTg>gCg	p.V282A	FRMD4A_uc009xjf.1_Missense_Mutation_p.V282A|FRMD4A_uc001imt.1_Missense_Mutation_p.V315A|FRMD4A_uc001imu.1_Missense_Mutation_p.V298A	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	282	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCTCCTTGTCACTGAAGCCCT	0.512000														161			35		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153032536	153032536	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:153032536C>T	uc010nuk.2	+	3	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.A85V|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	85	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGAGGCCGTGGCTGTC	0.642000														71			20		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522797	23522797	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23522797G>A	uc003jgo.3	+	7	867	c.685G>A	c.(685-687)Gca>Aca	p.A229T		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	229					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAAGGACAGTGCAGTGGACAA	0.552000										HNSCC(3;0.000094)				78			15		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42797365	42797365	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:42797365G>A	uc002otf.1	+	14	3767	c.3727G>A	c.(3727-3729)Gcc>Acc	p.A1243T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1243	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACTCCCACGGCCCGGAGCAG	0.716000			"""Mis, F, S"""		oligodendroglioma									27			4		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21245781	21245781	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:21245781G>T	uc002red.3	-	17	2866	c.2738C>A	c.(2737-2739)gCt>gAt	p.A913D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	913	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGCAACATGAGCCTCCAGACC	0.498000														103			7		1.06961e-07	1.15953e-07	1	1	0
AMPH	273	broad.mit.edu	37	7	38543262	38543262	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:38543262C>A	uc003tgu.3	-	2	409	c.193G>T	c.(193-195)Gca>Tca	p.A65S	AMPH_uc003tgv.3_Missense_Mutation_p.A65S	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	65	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGATTGCTGCTAAATATCCT	0.378000														111			10		0.000442599	0.000455268	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92763168	92763168	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:92763168G>T	uc003umh.1	-	4	3333	c.2117C>A	c.(2116-2118)tCt>tAt	p.S706Y	SAMD9L_uc003umj.1_Missense_Mutation_p.S706Y|SAMD9L_uc003umi.1_Missense_Mutation_p.S706Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.S706Y|SAMD9L_uc003umk.1_Missense_Mutation_p.S706Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.S706Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.S706Y|SAMD9L_uc022ahh.1_Missense_Mutation_p.S706Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	706								p.Y705H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAAATCTGAAGAATAGTTTTC	0.323000														70			30		3.80469e-20	4.63894e-20	1	1	0
LRRC37B	114659	broad.mit.edu	37	17	30349743	30349743	+	Silent	SNP	C	T	T	rs146053152		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:30349743C>T	uc002hgu.3	+	0	1589	c.1578C>T	c.(1576-1578)tgC>tgT	p.C526C	LRRC37B_uc010wbx.2_Silent_p.C444C|LRRC37B_uc010csu.3_Silent_p.C526C	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	526						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTGCACCTGCGGAGATGAGA	0.532000														200			49		0	0	1	0	0
SMARCAD1	56916	broad.mit.edu	37	4	95204434	95204434	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:95204434C>A	uc003htb.4	+	21	3072	c.2895C>A	c.(2893-2895)tgC>tgA	p.C965*	SMARCAD1_uc003htc.4_Nonsense_Mutation_p.C963*|SMARCAD1_uc003htd.4_Nonsense_Mutation_p.C965*|SMARCAD1_uc010ila.3_Nonsense_Mutation_p.C828*|SMARCAD1_uc011cdw.2_Nonsense_Mutation_p.C533*	NM_001128430	NP_001121902	Q9H4L7	SMRCD_HUMAN	Homo sapiens SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 (SMARCAD1), transcript variant 2, mRNA.	963	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAGATAGATGCCATAGAGTAG	0.338000														47			7		2.0095e-06	2.13635e-06	1	1	0
RHOBTB3	22836	broad.mit.edu	37	5	95091253	95091253	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:95091253A>C	uc003klm.3	+	5	1373	c.836A>C	c.(835-837)cAt>cCt	p.H279P	RHOBTB3_uc003klk.1_Missense_Mutation_p.H73P	NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	279	BTB 1.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCTGTAAGCCATGTTTTCATG	0.433000														140			30		0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221811	5221811	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:5221811G>T	uc010qyz.2	-	0	120	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATTGAGGAGAAGGGGATGG	0.483000														110			24		1.55469e-16	1.85573e-16	1	1	0
UMOD	7369	broad.mit.edu	37	16	20355365	20355365	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:20355365C>T	uc002dhb.3	-	6	1540	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T	UMOD_uc002dgz.3_Missense_Mutation_p.A438T|UMOD_uc002dha.3_Missense_Mutation_p.A438T	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	438	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCTGTAGGGCGGTCTTCAGG	0.542000														67			28		0	0	1	0	0
EIF3D	8664	broad.mit.edu	37	22	36912757	36912757	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:36912757C>T	uc003apr.3	-	10	1236	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	EIF3D_uc011amr.2_Silent_p.A184A|EIF3D_uc011amt.2_Silent_p.A308A|EIF3D_uc011ams.2_Silent_p.A260A	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	357						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						CCTACCGGTACGCAACAGAGG	0.507000														237			47		0	0	1	0	0
RAB7A	7879	broad.mit.edu	37	3	128514202	128514202	+	Splice_Site	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:128514202G>A	uc003eks.1	+	2	225	c.-7_splice	c.e2-1		RAB7A_uc010hsv.1_Splice_Site	NM_004637	NP_004628	P51149	RAB7A_HUMAN	Homo sapiens RAB7A, member RAS oncogene family (RAB7A), mRNA.						endocytosis|endosome to lysosome transport|epidermal growth factor catabolic process|protein transport|small GTPase mediated signal transduction	Golgi apparatus|late endosome|lysosome|melanosome|phagocytic vesicle	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(114;0.231)		TCCCCCTTTAGTTTGAAGGAT	0.453000											OREG0015781	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		93			22		0	0	1	0	0
C17orf80	55028	broad.mit.edu	37	17	71232555	71232555	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71232555A>G	uc002jjm.4	+	2	1128	c.934A>G	c.(934-936)Aat>Gat	p.N312D	C17orf80_uc010wqu.1_Missense_Mutation_p.N312D|C17orf80_uc010dfj.3_Missense_Mutation_p.N312D|C17orf80_uc002jjk.1_Missense_Mutation_p.N312D|C17orf80_uc002jjl.4_Missense_Mutation_p.N312D	NM_017941	NP_060411	Q9BSJ5	CQ080_HUMAN	Homo sapiens chromosome 17 open reading frame 80 (C17orf80), transcript variant 1, mRNA.	312						integral to membrane				kidney(1)|large_intestine(5)|lung(2)|skin(2)|stomach(2)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGCAAAGGAAATGCAGAGAA	0.443000														59			10		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850546	182850546	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:182850546C>T	uc001gpr.3	+	22	2947	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	DHX9_uc001gps.3_Silent_p.A710A|DHX9_uc001gpt.3_Silent_p.A203A|DHX9_uc009wyd.3_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	924					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATTCCAAGCCTGGGATGATG	0.403000														225			18		0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131931290	131931290	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:131931290C>A	uc003qcs.1	-	10	1147	c.973G>T	c.(973-975)Gga>Tga	p.G325*	MED23_uc003qcq.3_Nonsense_Mutation_p.G331*|MED23_uc011eca.1_Nonsense_Mutation_p.G14*|MED23_uc003qct.1_Nonsense_Mutation_p.G331*|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	325					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGCTTGTTCCCCCATCGTCA	0.498000														109			26		4.7796e-09	5.27959e-09	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102376473	102376473	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:102376473C>T	uc003pqp.4	+	12	2344	c.2051C>T	c.(2050-2052)gCa>gTa	p.A684V	GRIK2_uc010kcw.3_Missense_Mutation_p.A684V|GRIK2_uc003pqo.4_Missense_Mutation_p.A684V|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	684					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GAATATGGAGCAGTAGAGGAT	0.393000														63			10		0	0	1	0	0
ZPBP2	124626	broad.mit.edu	37	17	38033007	38033007	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:38033007A>G	uc002hte.3	+	7	1115	c.962A>G	c.(961-963)tAt>tGt	p.Y321C	ZPBP2_uc002htf.3_Missense_Mutation_p.Y299C	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	321					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			GTCCTTACCTATGGAGCTAAA	0.408000														206			34		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44132886	44132886	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:44132886G>A	uc002rtr.2	-	30	3367	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N	LRPPRC_uc010yob.1_Silent_p.N1003N	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	1103					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGGCAGCATCGTTCAGTGTGA	0.443000														91			35		0	0	1	0	0
LRP12	29967	broad.mit.edu	37	8	105509583	105509583	+	Nonsense_Mutation	SNP	C	T	T	rs5893689		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:105509583C>T	uc003yma.3	-	4	1324	c.1197G>A	c.(1195-1197)tgG>tgA	p.W399*	LRP12_uc003ymb.3_Nonsense_Mutation_p.W380*|LRP12_uc003ylz.3_5'Flank	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	399	LDL-receptor class A 3.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGGCAATGCCAATACCCAT	0.468000														103			24		0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128065219	128065219	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:128065219A>G	uc002toj.2	-	15	1896	c.1796T>C	c.(1795-1797)gTa>gCa	p.V599A		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	599	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TTTGGCCTCTACAAAAATCCG	0.473000														9			5		0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186277618	186277618	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:186277618G>A	uc001gru.4	+	6	2818	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.D882N|PRG4_uc009wyl.3_Missense_Mutation_p.D830N|PRG4_uc009wym.3_Missense_Mutation_p.D789N|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	923					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						AACAGAAAGAGACTTACGTAC	0.413000														166			41		0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71510041	71510041	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:71510041A>C	uc011caw.1	+	8	3179	c.2898A>C	c.(2896-2898)caA>caC	p.Q966H		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	966					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AACTGGGCCAAAAGGAAATTA	0.433000														114			21		0	0	1	0	0
FCHSD2	9873	broad.mit.edu	37	11	72578921	72578921	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:72578921T>C	uc009ytl.3	-	12	1518	c.1297A>G	c.(1297-1299)Act>Gct	p.T433A	FCHSD2_uc010rrg.2_Missense_Mutation_p.T297A|FCHSD2_uc001oth.4_Missense_Mutation_p.T377A|FCHSD2_uc001oti.2_Missense_Mutation_p.T392A	NM_014824	NP_055639	O94868	FCSD2_HUMAN	Homo sapiens FCH and double SH3 domains 2 (FCHSD2), mRNA.	433							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			GAGTGTAAAGTGCCATTACTG	0.418000														28			3		0	0	1	0	0
GRTP1	79774	broad.mit.edu	37	13	113980393	113980393	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113980393C>T	uc010tkc.2	-	5	673	c.576G>A	c.(574-576)ccG>ccA	p.P192P	GRTP1_uc001vtn.3_Silent_p.P192P|GRTP1_uc010tkb.2_Silent_p.P114P	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	192	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CCAGCATGGCCGGGCTGTAGT	0.632000														170			19		0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515396	44515396	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:44515396G>A	uc002oyb.1	+	4	1456	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AAGAGCTTTAGCCGGGCTTCA	0.443000														149			33		0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155630344	155630344	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155630344G>A	uc010pgi.2	-	9	1963	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	GON4L_uc021paz.1_Missense_Mutation_p.P433S|GON4L_uc010pgg.2_Missense_Mutation_p.P338S|GON4L_uc010pgh.2_Missense_Mutation_p.P442S|GON4L_uc009wqt.3_Missense_Mutation_p.P422S|GON4L_uc001flh.3_Missense_Mutation_p.P571S|GON4L_uc001fll.3_Missense_Mutation_p.P453S|GON4L_uc001flk.3_Missense_Mutation_p.P442S|GON4L_uc001flm.3_Missense_Mutation_p.P442S|GON4L_uc009wqu.3_Missense_Mutation_p.P286S|GON4L_uc009wqv.3_Missense_Mutation_p.P170S|GON4L_uc009wqw.3_Missense_Mutation_p.P422S|GON4L_uc001flj.3_Missense_Mutation_p.P433S|GON4L_uc001fli.3_Missense_Mutation_p.P453S|GON4L_uc001flo.3_Missense_Mutation_p.P387S|GON4L_uc001fln.3_Missense_Mutation_p.P499S|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.P453S	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1042					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTGTATTGGGTGAGGAATC	0.557000														163			39		0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54659086	54659086	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:54659086C>T	uc002qdj.2	+	17	2527	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CNOT3_uc002qdi.3_3'UTR|CNOT3_uc002qdk.2_Missense_Mutation_p.R735W|CNOT3_uc010ere.2_Non-coding_Transcript	NM_014516	NP_055331	O75175	CNOT3_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 3 (CNOT3), mRNA.	735					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GTGGGGCCAGCGGAAGAAGGA	0.637000														39			6		0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114215988	114215988	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:114215988C>T	uc001edk.3	+	18	3271	c.3090C>T	c.(3088-3090)ggC>ggT	p.G1030G	MAGI3_uc001edh.3_Silent_p.G1055G|MAGI3_uc001edi.4_Silent_p.G1030G|MAGI3_uc010owm.2_Silent_p.G1055G|MAGI3_uc001edj.3_Silent_p.G751G	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1055					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCCCGGGGCTTTGGATTCA	0.478000														152			36		0	0	1	0	0
SEC61A1	29927	broad.mit.edu	37	3	127775659	127775659	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:127775659G>A	uc003ekb.3	+	4	512	c.328G>A	c.(328-330)Gct>Act	p.A110T	SEC61A1_uc003ekc.3_Missense_Mutation_p.A57T|SEC61A1_uc003ekd.3_Intron	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	110					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						AAAAGACCGAGCTCTCTTCAA	0.408000														111			8		0	0	1	0	0
GNB3	2784	broad.mit.edu	37	12	6952223	6952223	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:6952223C>A	uc001qrd.3	+	4	591	c.186C>A	c.(184-186)caC>caA	p.H62Q	GNB3_uc001qrc.3_Missense_Mutation_p.H18Q|GNB3_uc009zfe.3_Missense_Mutation_p.H62Q	NM_002075	NP_002066	P16520	GBB3_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 3 (GNB3), mRNA.	62					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						ACGCCATGCACTGGGCCACTG	0.607000														121			26		4.26978e-12	4.90093e-12	1	1	0
FMN2	56776	broad.mit.edu	37	1	240256734	240256734	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:240256734G>A	uc010pye.2	+	0	1550	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	FMN2_uc010pyd.2_Missense_Mutation_p.R442K	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	442					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGCCCCAGGATCAAGAGG	0.672000														173			50		0	0	1	0	0
PRR14L	253143	broad.mit.edu	37	22	32108130	32108130	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:32108130C>T	uc003alp.4	-	3	5888	c.5695G>A	c.(5695-5697)Gaa>Aaa	p.E1899K	PRR14L_uc003alo.2_Missense_Mutation_p.E1698K|PRR14L_uc010gwj.1_Missense_Mutation_p.E1698K	NM_173566	NP_775837	Q5THK1	PR14L_HUMAN	Homo sapiens proline rich 14-like (PRR14L), mRNA.	1899										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|skin(1)|urinary_tract(2)	14						GAAGAGATTTCGAAGGAGCAG	0.507000														167			8		0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892866	79892866	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79892866C>A	uc002kct.1	-	4	558	c.476G>T	c.(475-477)tGc>tTc	p.C159F	PYCR1_uc002kcp.3_Missense_Mutation_p.C159F|PYCR1_uc002kcr.1_Missense_Mutation_p.C159F|PYCR1_uc010wvd.1_Missense_Mutation_p.C186F|PYCR1_uc002kcu.1_Missense_Mutation_p.C159F|PYCR1_uc010wve.1_Missense_Mutation_p.C111F	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	159					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	CACCTCCGTGCAGAAGCCCAC	0.697000														93			18		1.67942e-08	1.84125e-08	1	1	0
ZNF407	55628	broad.mit.edu	37	18	72353033	72353033	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:72353033T>C	uc002llw.2	+	1	4810	c.4757T>C	c.(4756-4758)gTg>gCg	p.V1586A	ZNF407_uc010xfc.2_Missense_Mutation_p.V1586A|ZNF407_uc010dqu.2_Missense_Mutation_p.V1586A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGAAACCATGTGAAAAGGCAC	0.423000														151			52		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10973777	10973777	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:10973777C>A	uc002yip.1	-	4	326	c.-42_splice	c.e4-1		TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site|TPTE_uc002yir.1_Splice_Site|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGGGTGGACTAGAGGATGT	0.363000														81			8		5.4927e-09	6.0639e-09	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70633807	70633807	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:70633807C>T	uc001xly.3	-	1	2087	c.1333G>A	c.(1333-1335)Gac>Aac	p.D445N	SLC8A3_uc001xlw.3_Missense_Mutation_p.D445N|SLC8A3_uc001xlx.3_Missense_Mutation_p.D445N|SLC8A3_uc001xlz.3_Missense_Mutation_p.D445N|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	445	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AACTCATAGTCAGCCCCTGCA	0.512000														303			71		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45716257	45716257	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:45716257G>T	uc001wwf.3	-	1	692	c.233C>A	c.(232-234)aCt>aAt	p.T78N	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	78					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGTTAGCATAGTTGATTGAAA	0.308000														71			12		3.07112e-06	3.25591e-06	1	1	0
MYBPC3	4607	broad.mit.edu	37	11	47360107	47360107	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47360107C>T	uc021qis.1	-	22	2327	c.2272G>A	c.(2272-2274)Ggc>Agc	p.G758S	MYBPC3_uc021qir.1_Missense_Mutation_p.G410S|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	757	Ig-like C2-type 5.		E -> D (in CMH4).		cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		TGGTCCTCGCCCACAGGGTTC	0.637000														109			21		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150930195	150930195	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150930195A>C	uc003lue.4	-	6	4547	c.4534T>G	c.(4534-4536)Ttg>Gtg	p.L1512V		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1512	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGAGGTCCAATTTTCCCACC	0.527000														112			30		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113315647	113315647	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:113315647G>A	uc002thw.2	+	7	1899	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	POLR1B_uc010fkn.2_Missense_Mutation_p.R384H|POLR1B_uc002thx.2_Missense_Mutation_p.R301H|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.R301H|POLR1B_uc010yxo.1_Missense_Mutation_p.R217H	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GGGAATCTGCGTTCTAAAACA	0.343000														31			3		0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84056480	84056480	+	Silent	SNP	G	A	A	rs146922664		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:84056480G>A	uc002fhg.1	-	5	705	c.705C>T	c.(703-705)gcC>gcT	p.A235A		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	235					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGGAGACGGCAGCTTCGT	0.572000														64			4		0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66461635	66461635	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:66461635C>T	uc021xzk.1	+	28	6936	c.6628C>T	c.(6628-6630)Cgg>Tgg	p.R2210W	MAST4_uc003jut.2_Missense_Mutation_p.R2021W|MAST4_uc003juw.3_Missense_Mutation_p.R1949W|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2213	Pro-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCACCCCGACCGGTCCCTCTC	0.647000														39			4		0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139903232	139903232	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:139903232C>T	uc004ckm.1	-	46	7156	c.7106G>A	c.(7105-7107)gGc>gAc	p.G2369D	ABCA2_uc022bpy.1_Missense_Mutation_p.G2270D|ABCA2_uc022bpz.1_Missense_Mutation_p.G2340D|ABCA2_uc011mem.1_Missense_Mutation_p.G2339D|ABCA2_uc004ckl.1_Missense_Mutation_p.G2270D|ABCA2_uc022bqa.1_Missense_Mutation_p.G6D	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	2339					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCAGCACGCCAGACACCTG	0.647000														28			6		0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207648341	207648341	+	Silent	SNP	C	T	T	rs139322251		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207648341C>T	uc001hfw.3	+	12	2438	c.2319C>T	c.(2317-2319)agC>agT	p.S773S	CR2_uc001hfv.3_Silent_p.S832S|CR2_uc009xch.3_Silent_p.S773S	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	773	Sushi 12.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.S832S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATCTTGGAGCGGGCCTTCCC	0.443000														170			60		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33926918	33926918	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:33926918A>G	uc001zhi.3	+	24	3229	c.3159A>G	c.(3157-3159)ccA>ccG	p.P1053P	RYR3_uc010bar.3_Silent_p.P1053P	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1053	4 X approximate repeats.|B30.2/SPRY 2.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATTGAGCCATCAGACCAAG	0.458000														135			8		0	0	1	0	0
ATP6V1B2	526	broad.mit.edu	37	8	20072363	20072363	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:20072363G>A	uc003wzp.3	+	9	1176	c.962G>A	c.(961-963)cGa>cAa	p.R321Q		NM_001693	NP_001684	P21281	VATB2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 (ATP6V1B2), mRNA.	321					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytosol|endomembrane system|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		CCTGGTCGACGAGGTTTTCCA	0.463000														98			30		0	0	1	0	0
CDRT4	284040	broad.mit.edu	37	17	15341418	15341418	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:15341418A>G	uc002gop.2	-	3	409	c.128T>C	c.(127-129)aTt>aCt	p.I43T	CDRT4_uc021tqm.1_Missense_Mutation_p.I43T|FAM18B2_uc010vvx.2_3'UTR|FAM18B2_uc010vvw.2_3'UTR	NM_001204477	NP_001191406	Q8N9R6	CDRT4_HUMAN	Homo sapiens CMT1A duplicated region transcript 4 (CDRT4), mRNA.	43										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GCTTTTCTCAATGAGTCTTTT	0.493000														146			32		0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47296266	47296266	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:47296266G>A	uc001ner.1	+	2	406	c.215G>A	c.(214-216)cGg>cAg	p.R72Q	MADD_uc001neq.2_Missense_Mutation_p.R72Q|MADD_uc001nev.1_Missense_Mutation_p.R72Q|MADD_uc001nes.1_Missense_Mutation_p.R72Q|MADD_uc001net.1_Missense_Mutation_p.R72Q|MADD_uc009yln.1_Missense_Mutation_p.R72Q|MADD_uc001neu.1_Missense_Mutation_p.R72Q|MADD_uc001nez.2_Missense_Mutation_p.R72Q|MADD_uc001new.2_Missense_Mutation_p.R72Q|MADD_uc001nex.2_Missense_Mutation_p.R72Q	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	72	UDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity	p.R72W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGAGCCTTCGGGATGATACC	0.562000														437			119		0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52637690	52637690	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:52637690G>A	uc003des.2	-	16	2638	c.2626C>T	c.(2626-2628)Cgt>Tgt	p.R876C	PBRM1_uc003dex.2_Intron|PBRM1_uc003deq.2_Missense_Mutation_p.R876C|PBRM1_uc003der.2_Missense_Mutation_p.R844C|PBRM1_uc003det.2_Missense_Mutation_p.R891C|PBRM1_uc003deu.2_Missense_Mutation_p.R891C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R876C|PBRM1_uc010hmk.1_Missense_Mutation_p.R876C|PBRM1_uc003dey.2_Missense_Mutation_p.R876C|PBRM1_uc003dez.1_Missense_Mutation_p.R876C|PBRM1_uc003dfb.1_Missense_Mutation_p.R789C|PBRM1_uc003dfa.1_Missense_Mutation_p.R222C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	876					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.R876L(1)|p.R876fs*39(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		AGTTCATCACGAATTTTAATA	0.353000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""									29			9		0	0	1	0	0
C15orf33	196951	broad.mit.edu	37	15	49867255	49867255	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:49867255C>T	uc001zxl.2	-	7	892	c.598G>A	c.(598-600)Gct>Act	p.A200T	C15orf33_uc001zxm.3_Missense_Mutation_p.A200T	NM_152647	NP_689860	Q96M60	CO033_HUMAN	Homo sapiens chromosome 15 open reading frame 33 (C15orf33), mRNA.	200										endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	25		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)		TGCAAAAGAGCAATGGAGGCT	0.299000														69			12		0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737600	119737600	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:119737600G>A	uc004bjt.2	-	8	1724	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G	ASTN2_uc022bml.1_Silent_p.G237G|ASTN2_uc022bmm.1_Silent_p.G241G	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	592	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GAAGCCAGAGGCCTTGGCCCA	0.557000														105			24		0	0	1	0	0
FBXW4	6468	broad.mit.edu	37	10	103427655	103427655	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:103427655C>A	uc001kto.3	-	4	1104	c.758G>T	c.(757-759)aGc>aTc	p.S253I		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	253					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex		p.S253>?(2)		breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		GAGTAATGGGCTGATAGCAAT	0.468000														205			43		4.45467e-35	5.64085e-35	1	1	0
INTS10	55174	broad.mit.edu	37	8	19689592	19689592	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:19689592A>C	uc022asn.1	+	10	1482	c.1351A>C	c.(1351-1353)Atc>Ctc	p.I451L	INTS10_uc003wzj.3_Missense_Mutation_p.I450L	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	450					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TTGGTTAAGAATCTTCCTCAC	0.378000														92			11		0	0	1	0	0
ZNF770	54989	broad.mit.edu	37	15	35273720	35273720	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:35273720T>C	uc001ziw.3	-	2	2270	c.1916A>G	c.(1915-1917)aAa>aGa	p.K639R	ZNF770_uc021siy.1_Missense_Mutation_p.K639R	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TCTTTCCAGTTTAGATGGAGA	0.423000														160			34		0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85950138	85950138	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:85950138C>T	uc004eew.2	+	4	1057	c.887C>T	c.(886-888)gCt>gTt	p.A296V	DACH2_uc004eex.2_Missense_Mutation_p.A283V|DACH2_uc010nmq.2_Missense_Mutation_p.A162V|DACH2_uc011mra.1_Missense_Mutation_p.A129V|DACH2_uc010nmr.2_Missense_Mutation_p.A77V	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.A296A(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATTGGGGGTGCTCCAACCCTC	0.498000														35			6		0	0	1	0	0
TACC1	6867	broad.mit.edu	37	8	38678031	38678031	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:38678031C>T	uc010lwp.3	+	2	1648	c.1269C>T	c.(1267-1269)gaC>gaT	p.D423D	TACC1_uc011lby.1_Silent_p.D228D|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.D378D|TACC1_uc003xlz.3_Silent_p.D228D|TACC1_uc003xmc.4_Silent_p.D228D|TACC1_uc011lbz.2_Silent_p.D439D|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.D423D|TACC1_uc011lcb.2_Silent_p.D228D|TACC1_uc011lcc.2_Silent_p.D228D|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Silent_p.D228D|TACC1_uc010lwq.3_Silent_p.D228D	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	423	Interaction with YEATS4.|SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATAACTTTGACGAATCCATGG	0.473000														312			59		0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113174253	113174253	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:113174253C>T	uc001vse.1	-	14	2015	c.1828G>A	c.(1828-1830)Gca>Aca	p.A610T	TUBGCP3_uc010tjq.1_Missense_Mutation_p.A600T|TUBGCP3_uc001vsf.3_Missense_Mutation_p.A610T	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	610					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.A610T(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TCAAACTGTGCGTTGGTGGCT	0.537000														160			32		0	0	1	0	0
STL	7955	broad.mit.edu	37	6	125233387	125233387	+	RNA	SNP	C	T	T	rs140902677	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:125233387C>T	uc003pzq.3	-	6		c.1347G>A								Homo sapiens six-twelve leukemia (STL), non-coding RNA.																		CTCCTAGGAGCTCCATGGTAT	0.393000			T	ETV6	B-ALL									57			11		0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56139438	56139438	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:56139438G>T	uc002xyn.4	+	6	1338	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I	PCK1_uc010zzm.2_Missense_Mutation_p.S75I	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	392					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGGAGTGGAGCTCAGAGGAT	0.582000														114			33		2.85442e-18	3.44571e-18	1	1	0
IL6ST	3572	broad.mit.edu	37	5	55237234	55237234	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:55237234C>T	uc003jqq.3	-	16	2746	c.2433G>A	c.(2431-2433)agG>agA	p.R811R	IL6ST_uc003jqp.3_3'UTR|IL6ST_uc010iwd.3_Silent_p.R130R|IL6ST_uc011cqk.2_Silent_p.R522R|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Silent_p.R750R	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	811					interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGTACTGTTGCCTGGGCAAAA	0.433000			O		hepatocellular ca									183			29		0	0	1	0	0
ZNF425	155054	broad.mit.edu	37	7	148801594	148801594	+	Missense_Mutation	SNP	T	C	C	rs148457097		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:148801594T>C	uc003wfj.3	-	3	1502	c.1369A>G	c.(1369-1371)Atg>Gtg	p.M457V		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	457					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGGGCGCGCATGGCGTTCCTC	0.672000														160			37		0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	989228	989228	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:989228C>T	uc001ack.2	+	33	5797	c.5747C>T	c.(5746-5748)gCa>gTa	p.A1916V		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1916	Laminin G-like 3.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		ACGGAGCGGGCAGACTATGTG	0.642000														23			9		0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70852662	70852662	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:70852662C>T	uc003pfc.1	+	22	1693	c.1576C>T	c.(1576-1578)Cag>Tag	p.Q526*	COL19A1_uc010kam.2_Nonsense_Mutation_p.Q422*	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	526	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATTTTAGGGTCAGCAAGGATC	0.368000														88			19		0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216663	4216663	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:4216663G>T	uc010dtt.1	+	17	1782	c.1506G>T	c.(1504-1506)caG>caT	p.Q502H	ANKRD24_uc002lzs.2_Missense_Mutation_p.Q473H|ANKRD24_uc002lzt.2_Missense_Mutation_p.Q474H	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	502										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TACGCAGGCAGCACGCTGAGG	0.622000														27			4		0.014758	0.0149061	1	1	0
SLC24A2	25769	broad.mit.edu	37	9	19786640	19786640	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:19786640G>A	uc003zoa.2	-	0	378	c.225C>T	c.(223-225)ggC>ggT	p.G75G	SLC24A2_uc003zob.2_Silent_p.G75G	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	75					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTACCCTAGGGCCACTTACAA	0.453000														160			8		0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15063766	15063766	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:15063766C>T	uc002naa.1	-	7	1480	c.1473G>A	c.(1471-1473)acG>acA	p.T491T	SLC1A6_uc010dzu.1_Silent_p.T413T|SLC1A6_uc010xod.1_Silent_p.T427T	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	491					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CAATGATGAGCGTGATGTCTT	0.607000														205			41		0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583271	24583271	+	Missense_Mutation	SNP	G	A	A	rs116324909	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24583271G>A	uc002zzn.1	+	10	1788	c.1744G>A	c.(1744-1746)Gtc>Atc	p.V582I		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	582	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GAGTGTGTCCGTCCTGCTGCC	0.657000														138			7		0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71418553	71418553	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:71418553G>A	uc010dfm.3	-	14	1918	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SDK2_uc010dfn.2_Silent_p.L319L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	640	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACACTGGCCAGGAGTACAGTC	0.592000														207			46		0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	75876437	75876437	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:75876437G>T	uc001vjl.1	-	15	3200	c.2853C>A	c.(2851-2853)tcC>tcA	p.S951S	TBC1D4_uc010tht.1_Silent_p.S161S|TBC1D4_uc010thu.1_Silent_p.S108S|TBC1D4_uc010aer.2_Silent_p.S943S|TBC1D4_uc010aes.2_Silent_p.S888S	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	951	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GTTCCTTATAGGATATGTCAG	0.418000														88			14		2.31682e-05	2.42268e-05	1	1	0
COL4A3	1285	broad.mit.edu	37	2	228158022	228158022	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:228158022C>T	uc002vom.2	+	37	3488	c.3326C>T	c.(3325-3327)cCt>cTt	p.P1109L	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1109	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCTGGAAGTCCTGGCCTCCCA	0.507000														71			23		0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48151572	48151572	+	Splice_Site	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:48151572A>G	uc003gxz.3	-	11	1097	c.1006_splice	c.e11+1	p.G336_splice		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	336	SH2.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CAGCTCACTTACCTGCTGCAT	0.333000														56			12		0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1956825	1956825	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:1956825C>A	uc001aip.2	+	2	329	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	78						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TCGACCACATCTCAGAGGCCA	0.652000														211			21		1.50039e-11	1.71053e-11	1	1	0
PROP1	5626	broad.mit.edu	37	5	177421242	177421242	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:177421242C>T	uc003mif.1	-	1	516	c.207G>A	c.(205-207)cgG>cgA	p.R69R		NM_006261	NP_006252	O75360	PROP1_HUMAN	Homo sapiens PROP paired-like homeobox 1 (PROP1), mRNA.	69					central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGGCGGCGCCGGGAGTGCG	0.657000														164			36		0	0	1	0	0
MOCS2	4338	broad.mit.edu	37	5	52396257	52396257	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52396257A>G	uc003joz.3	-	5	899	c.485T>C	c.(484-486)gTg>gCg	p.V162A	MOCS2_uc011cqf.2_3'UTR	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				CCATATGGGCACCTTGGCTTT	0.403000														79			19		0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58949251	58949251	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:58949251G>A	uc010trr.2	+	22	3368	c.3124G>A	c.(3124-3126)Gcc>Acc	p.A1042T	KIAA0586_uc001xdu.4_Missense_Mutation_p.A974T|KIAA0586_uc010trs.2_Missense_Mutation_p.A904T|KIAA0586_uc001xdt.4_Missense_Mutation_p.A945T|KIAA0586_uc001xdv.4_Missense_Mutation_p.A913T|KIAA0586_uc010trt.2_Missense_Mutation_p.A849T|KIAA0586_uc010tru.1_Missense_Mutation_p.A849T	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	913										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGGCGCCCTCCAGCT	0.368000														53			8		0	0	1	0	0
ATP5C1	509	broad.mit.edu	37	10	7840983	7840983	+	Missense_Mutation	SNP	C	T	T	rs146307767	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:7840983C>T	uc001iju.3	+	3	332	c.254C>T	c.(253-255)cCt>cTt	p.P85L	ATP5C1_uc010qbb.2_Missense_Mutation_p.P85L|ATP5C1_uc009xiq.1_Missense_Mutation_p.P85L|ATP5C1_uc010qbc.1_Missense_Mutation_p.P36L|ATP5C1_uc001ijv.3_Missense_Mutation_p.P85L	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	85					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						ATCAAGGGGCCTGAAGACAAG	0.358000														95			17		0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47686901	47686901	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:47686901G>A	uc002zir.1	-	9	2820	c.2784C>T	c.(2782-2784)tcC>tcT	p.S928S	MCM3AP_uc002ziq.1_5'Flank	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	928					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CTTACCCGTCGGAAACGGTGA	0.552000														51			11		0	0	1	0	0
STARD5	80765	broad.mit.edu	37	15	81614779	81614779	+	Silent	SNP	G	A	A	rs142670896		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:81614779G>A	uc002bgm.3	-	2	336	c.252C>T	c.(250-252)acC>acT	p.T84T	STARD5_uc002bgn.3_5'UTR	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 5 (STARD5), mRNA.	84	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTTCAAAACCGGTCACATTCT	0.483000														135			12		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861802	52861802	+	Missense_Mutation	SNP	C	A	A	rs141259484	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:52861802C>A	uc003gzi.3	-	3	1393	c.1386G>T	c.(1384-1386)caG>caT	p.Q462H		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	462						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						GTGGGTGTGGCTGTGTCACCC	0.577000														161			36		1.36161e-19	1.65525e-19	1	1	0
RTN1	6252	broad.mit.edu	37	14	60074020	60074020	+	Silent	SNP	G	A	A	rs113101447	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:60074020G>A	uc001xen.1	-	3	2165	c.1956C>T	c.(1954-1956)gaC>gaT	p.D652D	RTN1_uc001xem.1_Silent_p.D232D|RTN1_uc001xek.2_Silent_p.D84D|RTN1_uc010apl.2_Silent_p.D69D	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	652	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GGTGGCCTTCGTCGGTTTTCT	0.562000														69			13		0	0	1	0	0
CEP85L	387119	broad.mit.edu	37	6	118803068	118803068	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:118803068T>G	uc003pya.2	-	8	1695	c.1628A>C	c.(1627-1629)aAt>aCt	p.N543T	CEP85L_uc003pxz.2_Missense_Mutation_p.N540T	NM_001178035	NP_001171506	Q5SZL2	CF204_HUMAN	Homo sapiens centrosomal protein 85kDa-like (CEP85L), transcript variant 3, mRNA.	540						centrosome											CTCTTGTAAATTCTTATTTTT	0.303000														10			4		0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31096484	31096484	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:31096484G>A	uc002eaq.3	-	6	981	c.981C>T	c.(979-981)ggC>ggT	p.G327G	PRSS53_uc002ear.3_Silent_p.G121G	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	327	Peptidase S1 2.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCAGGGCTCCGCCACAGGCCA	0.667000														41			6		0	0	1	0	0
ZNF596	169270	broad.mit.edu	37	8	195764	195764	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:195764C>T	uc003wot.3	+	5	1205	c.917C>T	c.(916-918)cCa>cTa	p.P306L	ZNF596_uc003wou.3_Missense_Mutation_p.P205L|ZNF596_uc003wov.3_Missense_Mutation_p.P306L|ZNF596_uc003wow.3_Missense_Mutation_p.P306L	NM_173539	NP_775810	Q8TC21	ZN596_HUMAN	Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		GGAGATAAACCATATGGATGT	0.393000														60			12		0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79973230	79973230	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:79973230C>T	uc002kcy.3	+	12	1730	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	ASPSCR1_uc002kcx.3_Intron|ASPSCR1_uc021ufj.1_Intron|ASPSCR1_uc002kda.3_Intron	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	451							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GGGGACAGGCCGGGTAGGCTG	0.672000			T	TFE3	alveolar soft part sarcoma									69			10		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279222	47279222	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:47279222G>A	uc001cqn.4	+	4	648	c.564G>A	c.(562-564)gcG>gcA	p.A188A	CYP4B1_uc009vyl.1_Silent_p.A25A|CYP4B1_uc001cqm.4_Silent_p.A188A|CYP4B1_uc009vym.3_Silent_p.A173A|CYP4B1_uc010omk.2_Silent_p.A25A|CYP4B1_uc010oml.1_Silent_p.A25A	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	188					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A188V(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GTCACATGGCGCTGAACACAC	0.572000														93			17		0	0	1	0	0
ODZ4	26011	broad.mit.edu	37	11	78372542	78372542	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:78372542G>A	uc001ozl.4	-	32	7966	c.7503C>T	c.(7501-7503)taC>taT	p.Y2501Y	ODZ4_uc001ozk.4_Silent_p.Y726Y	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2501					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GGATGAGCTCGTAGGAGGGTT	0.517000														27			5		0	0	1	0	0
C5orf28	64417	broad.mit.edu	37	5	43446488	43446488	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43446488G>A	uc003jny.3	-	2	627	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	C5orf28_uc003jnv.4_Missense_Mutation_p.R162C|C5orf28_uc003jnx.3_Missense_Mutation_p.R162C	NM_022483	NP_071928	Q0VDI3	CE028_HUMAN	Homo sapiens chromosome 5 open reading frame 28 (C5orf28), mRNA.	162						integral to membrane		p.R162C(4)		breast(1)|kidney(1)|large_intestine(2)|lung(5)	9	Lung NSC(6;2.07e-05)					AAACCATGACGAATCCCATCT	0.388000														119			33		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197297957	197297957	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:197297957C>T	uc002utm.1	-	1	374	c.191G>A	c.(190-192)aGc>aAc	p.S64N		NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	64					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCGTACATGCTGGCAGTTAA	0.547000														138			62		0	0	1	0	0
ZNF730	100129543	broad.mit.edu	37	19	23299923	23299923	+	RNA	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:23299923C>T	uc002nrb.1	+	0		c.147C>T								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						CTGCGACCTGCGGGTATTGGG	0.612000														198			46		0	0	1	0	0
PRODH	5625	broad.mit.edu	37	22	18910658	18910658	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:18910658C>A	uc002zok.4	-	5	906	c.702G>T	c.(700-702)aaG>aaT	p.K234N	PRODH_uc002zoj.4_Missense_Mutation_p.K124N|PRODH_uc002zol.4_Missense_Mutation_p.K126N	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	234					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GTGCTGTGAGCTTAATGGCTA	0.572000														208			40		2.40579e-17	2.88621e-17	1	1	0
UPB1	51733	broad.mit.edu	37	22	24898122	24898122	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:24898122C>A	uc003aaf.3	+	2	1600	c.305C>A	c.(304-306)gCt>gAt	p.A102D	UPB1_uc003aae.3_Missense_Mutation_p.A34D	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	102	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CGCATAAAGGCTATCGTAGAG	0.408000														218			12		1.49906e-05	1.573e-05	1	1	0
ADAMTS5	11096	broad.mit.edu	37	21	28296425	28296425	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:28296425G>T	uc002ymg.3	-	7	3469	c.2740C>A	c.(2740-2742)Cct>Act	p.P914T		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.P914P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGGAGAGAGGACATCCTTTT	0.507000														104			26		1.12875e-08	1.24115e-08	1	1	0
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:66436706C>T	uc003dmx.3	-	12	1502	c.1488G>A	c.(1486-1488)caG>caA	p.Q496Q	SLC25A26_uc011bft.2_Non-coding_Transcript|LRIG1_uc011bfu.2_Silent_p.Q116Q|LRIG1_uc003dmw.3_Silent_p.Q162Q|LRIG1_uc010hnz.3_Silent_p.Q212Q|LRIG1_uc010hoa.3_Silent_p.Q520Q	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	496	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537000														266			61		0	0	1	0	0
CCDC12	151903	broad.mit.edu	37	3	46966960	46966960	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:46966960G>A	uc011baq.2	-	2	278	c.269C>T	c.(268-270)gCc>gTc	p.A90V	CCDC12_uc003cqo.2_Missense_Mutation_p.A90V|CCDC12_uc011bar.1_Missense_Mutation_p.A90V	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	77										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		AACCGGTTTGGCCTGGGGCAC	0.562000														31			9		0	0	1	0	0
TIPRL	261726	broad.mit.edu	37	1	168153250	168153250	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:168153250C>T	uc001gfg.3	+	1	360	c.215C>T	c.(214-216)gCg>gTg	p.A72V	TIPRL_uc001gff.3_Missense_Mutation_p.A72V	NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	72					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding	p.A72V(2)		breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GCTACAGATGCGTTAAGATGT	0.413000														101			29		0	0	1	0	0
NCK2	8440	broad.mit.edu	37	2	106509467	106509467	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:106509467G>A	uc002tdg.3	+	4	1254	c.978G>A	c.(976-978)gcG>gcA	p.A326A	NCK2_uc002tdh.3_3'UTR|NCK2_uc002tdi.3_Silent_p.A326A	NM_003581	NP_003572	O43639	NCK2_HUMAN	Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA.	326	SH2.				T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			endometrium(1)|lung(3)|ovary(1)	5						CCCTTAAAGCGTCAGGGAAGA	0.557000														120			44		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76379826	76379826	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:76379826G>A	uc021rkq.1	+	8	1461	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.E143K|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Intron	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	428						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTGGACCCCAGAAGATGTGAA	0.413000														329			59		0	0	1	0	0
ZNF335	63925	broad.mit.edu	37	20	44592534	44592534	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44592534G>T	uc002xqw.3	-	7	1321	c.1198C>A	c.(1198-1200)Ctg>Atg	p.L400M	ZNF335_uc010zxk.2_Missense_Mutation_p.L245M	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ATGGCCACCAGGTGTCCTGGG	0.637000														139			16		2.62699e-14	3.08368e-14	1	1	0
RAB3A	5864	broad.mit.edu	37	19	18311216	18311216	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18311216C>T	uc002nie.2	-	2	437	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_002866	NP_002857	P20336	RAB3A_HUMAN	Homo sapiens RAB3A, member RAS oncogene family (RAB3A), mRNA.	90					glutamate secretion|protein transport|small GTPase mediated signal transduction	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|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGGTAGTATGCGGTGGTGATG	0.552000														129			21		0	0	1	0	0
SLC36A3	285641	broad.mit.edu	37	5	150664259	150664259	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150664259G>T	uc003ltx.2	-	7	1264	c.845C>A	c.(844-846)cCc>cAc	p.P282H	SLC36A3_uc003ltv.2_Missense_Mutation_p.P226H|SLC36A3_uc003ltw.2_Missense_Mutation_p.P241H	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	241						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGTTGCTGGGATATGGAAT	0.473000														81			7		1.12685e-05	1.18529e-05	1	1	0
DIDO1	11083	broad.mit.edu	37	20	61542332	61542332	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:61542332G>A	uc002ydr.2	-	2	945	c.633C>T	c.(631-633)ggC>ggT	p.G211G	DIDO1_uc002yds.2_Silent_p.G211G|DIDO1_uc002ydt.2_Silent_p.G211G|DIDO1_uc002ydu.2_Silent_p.G211G|DIDO1_uc002ydv.2_Silent_p.G211G|DIDO1_uc002ydw.2_Silent_p.G211G|DIDO1_uc002ydx.2_Silent_p.G211G|DIDO1_uc011aao.1_Silent_p.G211G	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	211					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.G211G(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGGGCAGGACGCCCTCCACAG	0.637000														170			30		0	0	1	0	0
MUC21	394263	broad.mit.edu	37	6	30954944	30954944	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:30954944C>T	uc003nsh.2	+	1	1243	c.992C>T	c.(991-993)aCc>aTc	p.T331I	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.T315I	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	331	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAGCCACCAACTCTGAG	0.617000														571			125		0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27382725	27382725	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:27382725C>T	uc009xku.1	-	1	418	c.246G>A	c.(244-246)acG>acA	p.T82T	ANKRD26_uc001ith.2_Silent_p.T82T	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	82						centrosome		p.T82A(1)		breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						AATGTAGAGCCGTCCTATGAG	0.398000														75			11		0	0	1	0	0
RAP2B	5912	broad.mit.edu	37	3	152880895	152880895	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:152880895G>T	uc003ezr.3	+	0	867	c.413G>T	c.(412-414)tGg>tTg	p.W138L		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	138					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGAGGAGTGGAGCTGCCCC	0.632000														83			15		2.31682e-05	2.42268e-05	1	1	0
WNT5B	81029	broad.mit.edu	37	12	1741887	1741887	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:1741887C>T	uc009zdq.3	+	2	386	c.144C>T	c.(142-144)tgC>tgT	p.C48C	WNT5B_uc001qjj.3_Silent_p.C48C|WNT5B_uc001qjk.3_Silent_p.C48C|WNT5B_uc001qjl.3_Silent_p.C48C	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	48					Wnt receptor signaling pathway, calcium modulating pathway|angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			AGCCCGTGTGCAGTCAGCTTC	0.567000														270			47		0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125266388	125266388	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:125266388G>T	uc003eic.3	-	9	2440	c.1703C>A	c.(1702-1704)cCc>cAc	p.P568H		NM_022776	NP_073613	Q9BXB4	OSB11_HUMAN	Homo sapiens oxysterol binding protein-like 11 (OSBPL11), mRNA.	568					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						ATATGCACAGGGTAGAGAAAA	0.418000														93			20		5.26018e-13	6.10868e-13	1	1	0
ANLN	54443	broad.mit.edu	37	7	36446155	36446155	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:36446155G>A	uc003tff.3	+	3	1057	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	ANLN_uc011kaz.2_Missense_Mutation_p.A197T|ANLN_uc003tfg.3_Missense_Mutation_p.A285T|ANLN_uc010kxe.3_Missense_Mutation_p.A285T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	285	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTGGTTAATGCCTCAATTTC	0.418000														251			53		0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86042165	86042165	+	Silent	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:86042165C>A	uc003ycw.3	+	10	1846	c.1638C>A	c.(1636-1638)atC>atA	p.I546I	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.I453I|LRRCC1_uc010maa.2_Silent_p.I247I|LRRCC1_uc003ycy.3_Silent_p.I526I	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	546					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TAAGACTGATCCAAGAGGTGG	0.363000														110			27		2.49675e-24	3.10231e-24	1	1	0
KCNH3	23416	broad.mit.edu	37	12	49948160	49948160	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:49948160G>T	uc001ruh.1	+	10	2219	c.1959G>T	c.(1957-1959)gaG>gaT	p.E653D	KCNH3_uc010smj.1_Missense_Mutation_p.E593D	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	653					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	p.R652L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CCCGGCGGGAGCAGGTGGTAA	0.637000														286			71		1.07363e-35	1.36039e-35	1	1	0
CCDC158	339965	broad.mit.edu	37	4	77305391	77305391	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:77305391G>A	uc003hkb.4	-	4	729	c.576C>T	c.(574-576)atC>atT	p.I192I	CCDC158_uc003hkd.3_Silent_p.I192I	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	192										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCAACTAGGATTGACCGGA	0.428000														159			39		0	0	1	0	0
SLC5A7	60482	broad.mit.edu	37	2	108622641	108622641	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:108622641C>A	uc002tdv.3	+	6	1154	c.878C>A	c.(877-879)gCc>gAc	p.A293D	SLC5A7_uc010ywm.2_Missense_Mutation_p.A46D|SLC5A7_uc010fjj.3_Missense_Mutation_p.A293D|SLC5A7_uc010ywn.2_Missense_Mutation_p.A180D	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	293					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTCATTGGGGCCATTGGAGCA	0.537000														189			11		0.00829132	0.00840732	1	1	0
CDH9	1007	broad.mit.edu	37	5	26903822	26903822	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:26903822G>A	uc003jgs.1	-	5	1092	c.923C>T	c.(922-924)gCt>gTt	p.A308V	CDH9_uc010iug.3_Missense_Mutation_p.A308V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	308	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATCTCCTTCAGCAATGCTATA	0.423000														203			52		0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126336858	126336858	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:126336858T>C	uc003ifj.4	+	4	6740	c.6740T>C	c.(6739-6741)aTt>aCt	p.I2247T	FAT4_uc011cgp.2_Missense_Mutation_p.I545T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2247	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACGGTCAGCATTGTTCTACTG	0.423000														116			30		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960823	33960823	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33960823A>C	uc001bxj.4	+	7	3046	c.2879A>C	c.(2878-2880)aAa>aCa	p.K960T	ZSCAN20_uc009vui.3_Missense_Mutation_p.K959T	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	960					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AAGCCCTACAAATGCCTTGAG	0.502000														90			13		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43698728	43698728	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:43698728C>A	uc002ovy.3	-	4	1109	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Missense_Mutation_p.S243I|PSG4_uc002owb.3_Missense_Mutation_p.S243I	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	336	Ig-like C2-type 3.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGGGTAAATGCTGGGGAGGTC	0.483000														266			66		1.85257e-25	2.30982e-25	1	1	0
PDZRN3	23024	broad.mit.edu	37	3	73432936	73432936	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:73432936G>A	uc003dpl.1	-	9	2877	c.2781C>T	c.(2779-2781)agC>agT	p.S927S	PDZRN3_uc011bgh.1_Silent_p.S584S|PDZRN3_uc010hoe.1_Silent_p.S625S|PDZRN3_uc021xaq.1_Silent_p.S220S|PDZRN3_uc011bgf.1_Silent_p.S644S|PDZRN3_uc011bgg.1_Silent_p.S647S	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	927							ubiquitin-protein ligase activity|zinc ion binding	p.R926P(2)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GCGTCCCGTCGCTGCGGATCT	0.667000														150			39		0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823648	38823648	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:38823648C>T	uc003avs.1	-	1	587	c.490G>A	c.(490-492)Gac>Aac	p.D164N	KCNJ4_uc003avt.1_Missense_Mutation_p.D164N|KCNJ4_uc021wpp.1_Missense_Mutation_p.D164N	NM_004981	NP_690607	P48050	IRK4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 4 (KCNJ4), transcript variant 2, mRNA.	164		Role in the control of polyamine-mediated channel gating and in the blocking by intracellular magnesium (By similarity).			synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	PDZ domain binding|inward rectifier potassium channel activity	p.D164E(1)|p.I163I(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ATGAAGGAGTCGATGACGCAG	0.627000														138			30		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196746672	196746672	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:196746672A>G	uc002utj.4	-	35	5909	c.5808T>C	c.(5806-5808)gcT>gcC	p.A1936A		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1936					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E1935K(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAATTGGAGGAGCTTCTTTCA	0.333000														79			9		0	0	1	0	0
RPTOR	57521	broad.mit.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:78681708G>A	uc002jyt.1	+	3	1221	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_uc002jys.3_Missense_Mutation_p.R139H|RPTOR_uc010wuf.1_5'UTR|RPTOR_uc010wug.1_Missense_Mutation_p.R139H	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	139					TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity	TORC1 complex|cytosol|lysosome	protein complex binding	p.R138L(1)|p.R138H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557000														44			14		0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180479	101180479	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:101180479T>G	uc001kpr.3	-	1	410	c.202A>C	c.(202-204)Aat>Cat	p.N68H	GOT1_uc009xwi.2_Missense_Mutation_p.N68H	NM_002079	NP_002070	P17174	AATC_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1) (GOT1), mRNA.	68					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)	TACTCGTGATTTAGGCTATTG	0.522000														128			39		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273024	162273024	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:162273024C>T	uc002ubw.1	+	0	405	c.103C>T	c.(103-105)Cac>Tac	p.H35Y	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	35						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GCTTGTCTTGCACGATCATCC	0.468000														126			33		0	0	1	0	0
KCNC4	3749	broad.mit.edu	37	1	110766507	110766507	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:110766507G>A	uc009wfr.3	+	1	2386	c.1600G>A	c.(1600-1602)Gag>Aag	p.E534K	KCNC4_uc001dzf.3_Missense_Mutation_p.E534K|KCNC4_uc001dzh.3_Missense_Mutation_p.E534K|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_Missense_Mutation_p.E534K	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.	534					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.I533I(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGGTATGATCGAGAGGAAACG	0.577000														95			13		0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60767314	60767314	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:60767314C>T	uc002jad.3	+	24	4035	c.3633C>T	c.(3631-3633)gaC>gaT	p.D1211D	MRC2_uc002jae.3_Silent_p.D282D|MRC2_uc002jaf.3_Silent_p.D77D	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1211	C-type lectin 7.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCTGGCAGGACGGGGAGCCGC	0.682000														52			16		0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42161219	42161219	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42161219G>A	uc002iff.1	-	16	2644	c.2312C>T	c.(2311-2313)cCc>cTc	p.P771L	HDAC5_uc002ifd.1_Missense_Mutation_p.P770L|HDAC5_uc002ife.1_Missense_Mutation_p.P770L|HDAC5_uc010czp.1_Missense_Mutation_p.P685L|HDAC5_uc002ifg.1_Missense_Mutation_p.P80L|HDAC5_uc002ifh.2_Missense_Mutation_p.P770L	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	770	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CTGGCTGATGGGGCCTGCATG	0.597000														124			37		0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40702892	40702892	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:40702892C>A	uc001cfc.4	+	7	2549	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I	RLF_uc001cfd.4_Missense_Mutation_p.L531I	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	840					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			ATCAGTGAAACTTGAGGAGTC	0.348000														52			14		1.05317e-09	1.17384e-09	1	1	0
DET1	55070	broad.mit.edu	37	15	89073957	89073957	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:89073957C>T	uc002bmq.2	-	2	1202	c.1013G>A	c.(1012-1014)cGg>cAg	p.R338Q	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.R327Q|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	327						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TCGCAGCTGCCGCAGTTGGTC	0.493000														48			7		0	0	1	0	0
MCOLN3	55283	broad.mit.edu	37	1	85491722	85491722	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:85491722G>A	uc001dkp.3	-	8	1142	c.995C>T	c.(994-996)tCt>tTt	p.S332F	MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Missense_Mutation_p.S276F|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Missense_Mutation_p.S177F	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	332						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		CATTTGATCAGAAACAGAAAC	0.338000														22			6		0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26507040	26507040	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26507040G>A	uc003nif.4	+	3	896	c.839G>A	c.(838-840)aGg>aAg	p.R280K		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	280						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						AGAGAGAGGAGGAATGAATTC	0.458000														247			59		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11105645	11105645	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:11105645C>T	uc010dxp.3	+	9	1921	c.1561C>T	c.(1561-1563)Cgg>Tgg	p.R521W	SMARCA4_uc010dxo.3_Missense_Mutation_p.R521W|SMARCA4_uc002mqf.4_Missense_Mutation_p.R521W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R521W|SMARCA4_uc010dxq.3_Missense_Mutation_p.R521W|SMARCA4_uc010dxr.3_Missense_Mutation_p.R521W|SMARCA4_uc002mqj.4_Missense_Mutation_p.R521W|SMARCA4_uc010dxs.3_Missense_Mutation_p.R521W|SMARCA4_uc002mqe.2_Missense_Mutation_p.R521W	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	521	HSA.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R521P(1)|p.?(1)|p.E520*(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGAGAACGAGCGGATCGAGAA	0.567000			"""F, N, Mis"""		NSCLC									36			8		0	0	1	0	0
RBP4	5950	broad.mit.edu	37	10	95353719	95353719	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:95353719G>A	uc001kit.3	-	4	513	c.429C>T	c.(427-429)ctC>ctT	p.L143L		NM_006744	NP_006735	P02753	RET4_HUMAN	Homo sapiens retinol binding protein 4, plasma (RBP4), mRNA.	143					cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development	extracellular space	protein binding|retinal binding|retinol binding			large_intestine(1)|lung(3)|skin(1)	5		Colorectal(252;0.122)			Vitamin A(DB00162)	AGGTGCCATCGAGGTTCAGGA	0.597000														222			54		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2398031	2398031	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:2398031G>A	uc002wfy.1	+	9	1551	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	TGM6_uc010gal.1_Missense_Mutation_p.G497D	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	497					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	AGCATCGCTGGCAAGTTCAAG	0.652000														68			20		0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46276968	46276968	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:46276968C>T	uc001van.1	+	1	214	c.134C>T	c.(133-135)cCa>cTa	p.P45L	SPERT_uc001vao.2_5'Flank	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	45						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CTAGAAATTCCAATCAGTGTG	0.428000														59			14		0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44602221	44602221	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:44602221G>T	uc011aqe.2	+	13	1335	c.911G>T	c.(910-912)aGc>aTc	p.S304I	PARVG_uc003bep.3_Missense_Mutation_p.S304I|PARVG_uc011aqf.2_Missense_Mutation_p.S304I	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	304	CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GATGCCAAGAGCACACTGAGG	0.602000														101			17		2.5808e-16	3.07748e-16	1	1	0
ADAM12	8038	broad.mit.edu	37	10	127786984	127786984	+	Splice_Site	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:127786984C>A	uc001ljk.2	-	10	1418	c.1005_splice	c.e10+1	p.M335_splice	ADAM12_uc010qul.1_Splice_Site_p.M286_splice|ADAM12_uc001ljm.3_Splice_Site_p.M335_splice|ADAM12_uc001ljn.3_Splice_Site_p.M332_splice|ADAM12_uc001ljl.4_Splice_Site_p.M332_splice	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	335	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGGCTTACCATGACAATT	0.473000														258			50		1.54043e-34	1.94903e-34	1	1	0
ZNF502	91392	broad.mit.edu	37	3	44763223	44763223	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:44763223G>A	uc011baa.2	+	3	1169	c.914G>A	c.(913-915)cGa>cAa	p.R305Q	ZNF502_uc003cns.3_Missense_Mutation_p.R305Q|ZNF502_uc011bab.2_Missense_Mutation_p.R305Q|ZNF502_uc003cnt.3_Missense_Mutation_p.R305Q	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TCTTCTTTTCGAAAACACTCA	0.408000														195			40		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4847865	4847865	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:4847865C>A	uc003bqc.3	+	53	7491	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	ITPR1_uc021wsi.1_Missense_Mutation_p.L2348M|ITPR1_uc021wsj.1_Missense_Mutation_p.L2333M|ITPR1_uc011asu.2_Missense_Mutation_p.L359M|ITPR1_uc010hcc.2_Missense_Mutation_p.L116M|ITPR1_uc011asv.2_Missense_Mutation_p.L72M	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2396					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AGCCATGGTTCTGGATGTTGA	0.453000														58			21		7.45023e-12	8.53574e-12	1	1	0
KCTD3	51133	broad.mit.edu	37	1	215775224	215775224	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:215775224C>A	uc001hks.3	+	10	1243	c.949C>A	c.(949-951)Cct>Act	p.P317T	KCTD3_uc001hkt.3_Missense_Mutation_p.P317T|KCTD3_uc010pub.2_Missense_Mutation_p.P215T|KCTD3_uc009xdn.3_Missense_Mutation_p.P69T	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	317						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGATGTTGTTCCTATAACTAG	0.328000														68			12		6.40141e-05	6.6609e-05	1	1	0
ENOX1	55068	broad.mit.edu	37	13	43986165	43986165	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:43986165G>A	uc001uza.4	-	4	395	c.95C>T	c.(94-96)gCg>gTg	p.A32V	ENOX1_uc001uzc.4_Missense_Mutation_p.A32V|ENOX1_uc001uzb.4_Missense_Mutation_p.A32V	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTGTCTATCGCTATACTCCC	0.488000														83			16		0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99740177	99740177	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:99740177C>T	uc002bur.3	-	7	1237	c.706G>A	c.(706-708)Ggt>Agt	p.G236S	TTC23_uc002bus.3_Missense_Mutation_p.G236S|TTC23_uc002but.3_Missense_Mutation_p.G236S|TTC23_uc002buu.3_Missense_Mutation_p.G236S|TTC23_uc002buv.3_Missense_Mutation_p.G236S|TTC23_uc002bux.3_Missense_Mutation_p.G236S|TTC23_uc002buw.3_Missense_Mutation_p.G236S|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.G236S|TTC23_uc010bor.3_Missense_Mutation_p.G236S|TTC23_uc002buz.2_Missense_Mutation_p.G236S	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	236							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TGCTCTACACCTGCTAATTCT	0.463000														144			33		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509692	23509692	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:23509692G>A	uc003jgo.3	+	2	365	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	61	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATAATGCACTGATTACTATAG	0.433000										HNSCC(3;0.000094)				114			36		0	0	1	0	0
ELL	8178	broad.mit.edu	37	19	18556055	18556055	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:18556055C>A	uc002njh.3	-	10	1800	c.1728G>T	c.(1726-1728)caG>caT	p.Q576H	ELL_uc010ebq.3_Missense_Mutation_p.Q519H|ELL_uc002njg.3_Missense_Mutation_p.Q443H	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	576					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TTCGATATTCCTGCAAAATCT	0.512000			T	MLL	AL									517			102		2.44514e-32	3.0867e-32	1	1	0
UBTF	7343	broad.mit.edu	37	17	42295570	42295570	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:42295570C>T	uc010czs.3	-	1	324	c.28G>A	c.(28-30)Gac>Aac	p.D10N	UBTF_uc002igc.3_Missense_Mutation_p.D10N|UBTF_uc002igd.3_Missense_Mutation_p.D10N|UBTF_uc010czt.3_Missense_Mutation_p.D10N|UBTF_uc002ige.2_Missense_Mutation_p.D10N	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	10					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ATTTCCAGGTCTGTGGGGCAG	0.652000											OREG0024457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		190			50		0	0	1	0	0
HIST1H1E	3008	broad.mit.edu	37	6	26157183	26157183	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:26157183G>A	uc003ngq.3	+	0	625	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	HIST1H2BD_uc003ngr.3_5'Flank|HIST1H2BD_uc003ngs.3_5'Flank	NM_005321	NP_005312	P10412	H14_HUMAN	Homo sapiens histone cluster 1, H1e (HIST1H1E), mRNA.	189					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAGAGCCCAGCGAAGGCCAA	0.542000														46			9		0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524699	112524699	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:112524699G>T	uc001ebu.1	-	1	1130	c.650C>A	c.(649-651)cCg>cAg	p.P217Q	KCND3_uc001ebv.1_Missense_Mutation_p.P217Q	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	217						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)		CTCCCCGCACGGCAGCTCCTT	0.642000														104			24		2.89027e-11	3.28353e-11	1	1	0
IL28RA	163702	broad.mit.edu	37	1	24485614	24485614	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:24485614G>A	uc001bis.3	-	5	756	c.729C>T	c.(727-729)gcC>gcT	p.A243A	IL28RA_uc001bir.3_Silent_p.A243A|IL28RA_uc001bit.3_Intron|IL28RA_uc001biu.3_Silent_p.A159A	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	243					cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		CACCCCCTGCGGCAATTACTA	0.527000														148			15		0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112299496	112299496	+	Missense_Mutation	SNP	C	T	T	rs144280370		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:112299496C>T	uc003dze.3	+	5	777	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	178						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity	p.R178S(2)		endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						CTTGGCAGGACGTGGATTTCA	0.463000														137			18		0	0	1	0	0
ZNF835	90485	broad.mit.edu	37	19	57176546	57176546	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57176546G>A	uc010ygn.2	-	1	248	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CCTGGAGGGCGACGCTCAAGA	0.512000														89			24		0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40318319	40318319	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40318319G>T	uc002hzb.2	-	9	2169	c.1836C>A	c.(1834-1836)atC>atA	p.I612I		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	612					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCTTACCCAGGATGGCCAGCA	0.607000														29			3		0.115264	0.115636	1	1	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820358	179820358	+	Nonsense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:179820358C>A	uc001gnl.3	-	4	989	c.175G>T	c.(175-177)Gaa>Taa	p.E59*	TOR1AIP2_uc001gnk.3_Nonsense_Mutation_p.E59*	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	59						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						TCTGGACCTTCTGTCTCTACC	0.448000														133			22		9.95505e-16	1.18146e-15	1	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143974006	143974006	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:143974006G>A	uc002tvm.4	+	3	439	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ARHGAP15_uc010zbl.1_Silent_p.K96K	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	96	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	Rac GTPase activator activity|protein binding			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		ATGGAGGAAAGAAACTAAGGT	0.338000														65			4		0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156421357	156421357	+	Silent	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:156421357A>G	uc003fav.3	+	4	1814	c.1392A>G	c.(1390-1392)caA>caG	p.Q464Q	TIPARP_uc003faw.3_Silent_p.Q464Q|TIPARP_uc021xgg.1_Silent_p.Q464Q	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	464	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ACTTCATCCAAGTCCCTGTTT	0.383000														125			12		0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55304313	55304313	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:55304313G>A	uc003pcn.3	-	8	1089	c.930C>T	c.(928-930)ggC>ggT	p.G310G	HMGCLL1_uc011dxe.2_Silent_p.G114G|HMGCLL1_uc003pco.3_Silent_p.G280G|HMGCLL1_uc010jzx.3_Silent_p.G181G|HMGCLL1_uc011dxc.2_Silent_p.G248G|HMGCLL1_uc011dxd.2_Silent_p.G177G	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	310							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATAAGGGCAGCCACCTAATC	0.423000														107			27		0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7700507	7700507	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:7700507G>T	uc001aoi.3	+	6	765	c.558G>T	c.(556-558)gaG>gaT	p.E186D		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.E186K(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGGCCATCGAGGACTGCGGCA	0.612000			T	WWTR1	epitheliod hemangioendothelioma									220			15		2.32078e-09	2.57599e-09	1	1	0
DPM3	54344	broad.mit.edu	37	1	155112460	155112460	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:155112460G>A	uc001fhm.3	-	0	424	c.347C>T	c.(346-348)gCc>gTc	p.A116V	DPM3_uc001fhn.3_Missense_Mutation_p.A86V	NM_018973	NP_714963	Q9P2X0	DPM3_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 3 (DPM3), transcript variant 1, mRNA.	86					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCCTGCGGGCTAAGTCGGC	0.587000														210			48		0	0	1	0	0
RBM7	10179	broad.mit.edu	37	11	114278379	114278379	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:114278379G>T	uc001pow.3	+	4	664	c.654G>T	c.(652-654)caG>caT	p.Q218H	RBM7_uc001pov.3_Missense_Mutation_p.Q217H|RBM7_uc001pox.3_Missense_Mutation_p.Q97H	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	217					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		GCCGGGAACAGCGTTACACTG	0.443000														111			23		3.7963e-18	4.57459e-18	1	1	0
NES	10763	broad.mit.edu	37	1	156639791	156639791	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156639791G>A	uc001fpq.3	-	3	4322	c.4189C>T	c.(4189-4191)Cta>Tta	p.L1397L	NES_uc021pbh.1_Silent_p.L315L	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1397	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGATCCAGTAGCAGCTGGGGC	0.602000														116			36		0	0	1	0	0
MNX1	3110	broad.mit.edu	37	7	156803024	156803024	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156803024G>A	uc003wnd.1	-	0	324	c.21C>T	c.(19-21)ttC>ttT	p.F7F	MNX1_uc003wmz.3_5'Flank|MNX1_uc003wna.3_Silent_p.F7F|MNX1_uc003wnc.1_5'Flank|MNX1_uc022aqk.1_5'Flank|MNX1_uc010lqr.1_5'Flank|LOC645249_uc003wne.2_5'Flank	NM_005515	NP_005506	P50219	MNX1_HUMAN	Homo sapiens motor neuron and pancreas homeobox 1 (MNX1), transcript variant 1, mRNA.	7					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTCGATGCGGAAATTTTTGG	0.716000														35			7		0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80198831	80198831	+	Missense_Mutation	SNP	C	T	T	rs141821682		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:80198831C>T	uc003piy.3	-	7	1813	c.1201G>A	c.(1201-1203)Gta>Ata	p.V401I	LCA5_uc003pix.3_Missense_Mutation_p.V401I	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	401					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCCTGTTTTACGACATGGAGT	0.403000														121			12		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152320230	152320230	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:152320230T>C	uc002txm.3	+	29	4357	c.4196T>C	c.(4195-4197)gTa>gCa	p.V1399A	RIF1_uc002txn.3_Missense_Mutation_p.V1399A|RIF1_uc002txl.3_Missense_Mutation_p.V1399A|RIF1_uc002txo.3_Missense_Mutation_p.V1399A|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1399					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATCAAATGGTAAATGAGGAT	0.378000														103			32		0	0	1	0	0
SNRNP27	11017	broad.mit.edu	37	2	70123668	70123668	+	Missense_Mutation	SNP	C	T	T	rs142136097	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:70123668C>T	uc002sfw.3	+	2	298	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SNRNP27_uc002sfv.3_Non-coding_Transcript	NM_006857	NP_006848	Q8WVK2	SNR27_HUMAN	Homo sapiens small nuclear ribonucleoprotein 27kDa (U4/U6.U5) (SNRNP27), transcript variant 1, mRNA.	86					RNA splicing|mRNA processing	nucleus	nucleic acid binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						gaGCAAAGAACGGCAGATTAC	0.328000														41			4		0	0	1	0	0
C7orf25	79020	broad.mit.edu	37	7	42949923	42949923	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:42949923C>T	uc003thx.4	-	1	1236	c.751G>A	c.(751-753)Gta>Ata	p.V251I	C7orf25_uc010kxq.3_Missense_Mutation_p.V193I|C7orf25_uc010kxr.3_Missense_Mutation_p.V251I|C7orf25_uc022ace.1_Missense_Mutation_p.V193I	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	193										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						TTGACTGCTACTATGTCTCCT	0.468000														104			31		0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25277122	25277122	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:25277122C>T	uc002wup.3	+	19	2605	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	ABHD12_uc002wuq.3_Intron	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	832					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	AGCCCTCCGACCTGCAGATCC	0.602000														144			25		0	0	1	0	0
CLIC2	1193	broad.mit.edu	37	X	154507346	154507346	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:154507346G>A	uc004fnf.3	-	5	840	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	197	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATATTTCTTGGCAGCAACCTA	0.398000														77			25		0	0	1	0	0
ESX1	80712	broad.mit.edu	37	X	103499510	103499510	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:103499510G>A	uc004ely.3	-	0	90	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	7					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CACTGTGGGTGTACCCGCGAA	0.587000														327			99		0	0	1	0	0
C16orf55	124045	broad.mit.edu	37	16	89735711	89735711	+	Nonsense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:89735711C>T	uc010vpk.1	+	2	303	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	C16orf55_uc002fnw.1_Nonsense_Mutation_p.Q76*|C16orf55_uc002fny.2_Non-coding_Transcript	NM_153025	NP_694570	Q96N06	CP055_HUMAN	Homo sapiens chromosome 16 open reading frame 55 (C16orf55), mRNA.	76										cervix(1)|kidney(1)	2		all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGATGTAAAGCAAAAGTCCAG	0.498000														141			21		0	0	1	0	0
ZNF345	25850	broad.mit.edu	37	19	37368905	37368905	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:37368905C>T	uc002oex.3	+	2	1554	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	ZNF345_uc021utn.1_Silent_p.I391I|ZNF345_uc002oey.4_Silent_p.I391I|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Silent_p.I391I|ZNF345_uc021utp.1_Silent_p.I391I|ZNF345_uc021utq.1_Silent_p.I391I	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	391					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGCTAATCCATACTGGTG	0.423000														96			6		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572967	38572967	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:38572967C>T	uc002ohk.3	+	2	1271	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	254					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGGGGGCGGCGGCGGAGCCA	0.697000														67			30		0	0	1	0	0
MEX3A	92312	broad.mit.edu	37	1	156047062	156047062	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:156047062G>A	uc001fnd.4	-	1	866	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	289						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGTGCGCACCGCGATGTGCGT	0.627000														160			34		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38519880	38519880	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:38519880T>C	uc002yvz.3	+	21	2098	c.1993T>C	c.(1993-1995)Tac>Cac	p.Y665H	TTC3_uc011aee.1_Missense_Mutation_p.Y355H|TTC3_uc002ywa.3_Missense_Mutation_p.Y665H|TTC3_uc002ywb.3_Missense_Mutation_p.Y665H|TTC3_uc010gnf.3_Missense_Mutation_p.Y430H|TTC3_uc002ywc.3_Missense_Mutation_p.Y355H|TTC3_uc011aed.1_Missense_Mutation_p.Y355H	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	665					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GATCCAGATATACATAACTGA	0.368000														102			22		0	0	1	0	0
HUS1B	135458	broad.mit.edu	37	6	656306	656306	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:656306C>T	uc003mtg.3	-	0	659	c.639G>A	c.(637-639)tcG>tcA	p.S213S	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	213										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CACCCACAGCCGACTGGGGAG	0.502000														337			80		0	0	1	0	0
HTATIP2	10553	broad.mit.edu	37	11	20404603	20404603	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:20404603C>T	uc009yia.1	+	5	647	c.581C>T	c.(580-582)tCt>tTt	p.S194F	HTATIP2_uc009yib.1_Missense_Mutation_p.S194F|HTATIP2_uc001mpx.2_Missense_Mutation_p.S228F|HTATIP2_uc001mpz.2_Missense_Mutation_p.S194F	NM_006410	NP_006401	Q9BUP3	HTAI2_HUMAN	Homo sapiens HIV-1 Tat interactive protein 2, 30kDa (HTATIP2), transcript variant 2, mRNA.	194					angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter	cytoplasm|nuclear envelope	NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity			large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTACCAGACTCTTGGGCCAGT	0.448000														46			5		0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43161521	43161521	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:43161521A>G	uc011cpw.2	+	4	578	c.542A>G	c.(541-543)gAt>gGt	p.D181G	ZNF131_uc010ivl.1_Missense_Mutation_p.D181G|ZNF131_uc003jnj.4_5'UTR|ZNF131_uc003jnk.3_Missense_Mutation_p.D181G|ZNF131_uc003jnn.4_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	181						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						GAAGTGGAAGATGAAGGCATC	0.448000														89			18		0	0	1	0	0
UTP15	84135	broad.mit.edu	37	5	72875701	72875701	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:72875701G>T	uc003kcw.1	+	13	1563	c.1340_splice	c.e13-1	p.D447_splice	UTP15_uc011cso.1_Splice_Site_p.D428_splice|UTP15_uc011csp.1_Splice_Site_p.D257_splice|UTP15_uc010ize.1_Splice_Site_p.D447_splice	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	447					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TCTCTTTTTAGATATATATCT	0.274000														38			9		0.000442599	0.000455268	1	1	0
ATP6V0A1	535	broad.mit.edu	37	17	40646415	40646415	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:40646415G>A	uc002hzs.3	+	11	1426	c.1259G>A	c.(1258-1260)gGc>gAc	p.G420D	ATP6V0A1_uc002hzr.3_Missense_Mutation_p.G413D|ATP6V0A1_uc002hzq.3_Missense_Mutation_p.G413D|ATP6V0A1_uc010wgj.2_Missense_Mutation_p.G370D|ATP6V0A1_uc010wgk.2_Missense_Mutation_p.G370D|ATP6V0A1_uc010cyg.3_Missense_Mutation_p.G59D|ATP6V0A1_uc010wgl.2_Missense_Mutation_p.G272D	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	413					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	Golgi apparatus|cytoplasmic vesicle membrane|endosome membrane|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TTCGGTCATGGCATTTTAATG	0.388000														89			15		0	0	1	0	0
DDR2	4921	broad.mit.edu	37	1	162737131	162737131	+	Nonsense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:162737131G>A	uc001gcf.3	+	11	1740	c.1275G>A	c.(1273-1275)tgG>tgA	p.W425*	DDR2_uc001gcg.3_Nonsense_Mutation_p.W425*	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	425					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GGCAGTTCTGGCAGAAAATGC	0.473000														111			24		0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176785034	176785034	+	Silent	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:176785034G>T	uc003mgh.3	+	0	191	c.9G>T	c.(7-9)ggG>ggT	p.G3G	RGS14_uc003mgf.3_Silent_p.G3G	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	3					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	PML body|cell junction|centrosome|dendritic spine|microtubule|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCATGCCAGGGAAGCCCAAGC	0.751000														35			7		0.00307968	0.00313564	1	1	0
ZMYND10	51364	broad.mit.edu	37	3	50379568	50379568	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:50379568G>A	uc003dag.1	-	8	1023	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Missense_Mutation_p.R288W	NM_015896	NP_056980	O75800	ZMY10_HUMAN	Homo sapiens zinc finger, MYND-type containing 10 (ZMYND10), mRNA.	293						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AGGAAGGCCCGAAGCTGCAAG	0.612000										TSP Lung(30;0.18)				149			29		0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44080142	44080142	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:44080142G>A	uc001mxw.1	+	12	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H	ACCSL_uc009ykr.2_Missense_Mutation_p.R325H	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	506							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						CTCTATTGCCGCTTCCTGGAC	0.542000														180			39		0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34925772	34925772	+	Splice_Site	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:34925772G>T	uc002nvk.3	+	5	429	c.359_splice	c.e5-1	p.A120_splice	UBA2_uc010xrx.1_Splice_Site|UBA2_uc002nvl.3_Splice_Site_p.A24_splice	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	120					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTACTTCCAGCTGCCCGAAA	0.353000														14			9		1.12685e-05	1.18529e-05	1	1	0
ZNF662	389114	broad.mit.edu	37	3	42956386	42956386	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:42956386A>C	uc003cmk.2	+	3	1085	c.899A>C	c.(898-900)aAa>aCa	p.K300T	ZNF662_uc003cmi.2_Missense_Mutation_p.K274T|ZNF662_uc003cmj.2_Missense_Mutation_p.K166T	NM_001134656	NP_001128128	Q6ZS27	ZN662_HUMAN	Homo sapiens zinc finger protein 662 (ZNF662), transcript variant 2, mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ACTGGAGAGAAACCCTTTGAA	0.438000														114			20		0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30611535	30611535	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:30611535G>A	uc001iva.4	-	5	1067	c.1004C>T	c.(1003-1005)aCa>aTa	p.T335I	MTPAP_uc001ivb.4_Missense_Mutation_p.T465I	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	335					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCGGAACTTGTCAAGGCAAT	0.373000														47			14		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107281173	107281173	+	RNA	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:107281173G>A	uc021ser.1	-	2		c.210C>T								Parts of antibodies, mostly variable regions.																		CACTGCTGATGGAGTCACCAG	0.592000														65			5		0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95900214	95900214	+	Missense_Mutation	SNP	T	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:95900214T>G	uc003yhc.3	-	6	645	c.541A>C	c.(541-543)Aat>Cat	p.N181H	CCNE2_uc003yhd.2_Missense_Mutation_p.N181H	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	181					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					ATATTTTTATTTATATCCTTT	0.294000														62			20		0	0	1	0	0
FBXO34	55030	broad.mit.edu	37	14	55818571	55818571	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr14:55818571G>A	uc021rtk.1	+	0	1463	c.1463G>A	c.(1462-1464)gGt>gAt	p.G488D	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.G488D|FBXO34_uc010aoo.3_Missense_Mutation_p.G488D	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	488										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TTGCCACCTGGTCAGCACTTG	0.468000														152			38		0	0	1	0	0
CD55	1604	broad.mit.edu	37	1	207497997	207497997	+	Missense_Mutation	SNP	A	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:207497997A>G	uc001hfq.4	+	2	674	c.380A>G	c.(379-381)tAt>tGt	p.Y127C	CD55_uc001hfr.4_Missense_Mutation_p.Y127C|CD55_uc010psf.2_Intron|CD55_uc009xcf.3_Intron|CD55_uc009xce.3_Missense_Mutation_p.Y127C	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	127	Sushi 2.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GTTGTGGAATATGAGTGCCGT	0.413000														91			33		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27315813	27315813	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:27315813C>T	uc003xfn.2	+	35	3625	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	PTK2B_uc022ate.1_Silent_p.I939I|PTK2B_uc003xfp.2_Silent_p.I939I|PTK2B_uc003xfq.2_Silent_p.I897I	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	939	Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.E938K(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCCTACAGATCGAGGGCACCC	0.557000														53			6		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598231	62598231	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:62598231C>A	uc002yhl.1	-	3	445	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCCCTTACCCCTTGGCACCGC	0.622000														97			20		1.28384e-07	1.38782e-07	1	1	0
CUL7	9820	broad.mit.edu	37	6	43016152	43016152	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:43016152G>A	uc003otq.3	-	7	2313	c.1981C>T	c.(1981-1983)Cgg>Tgg	p.R661W	CUL7_uc010jyg.3_5'Flank|CUL7_uc011dvb.2_Missense_Mutation_p.R745W|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	661					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCGGCTGCCGCTGCAGCTGC	0.597000														402			102		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481272	179481272	+	Missense_Mutation	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179481272A>C	uc021vsy.1	-	205	40767	c.40542T>G	c.(40540-40542)gaT>gaG	p.D13514E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D7209E|TTN_uc021vta.1_Missense_Mutation_p.D7142E|TTN_uc021vtb.1_Missense_Mutation_p.D7017E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14441	Ig-like 91.						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)			GACTTCCTCCATCATCATCAG	0.423000														140			42		0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73495078	73495078	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:73495078G>A	uc010wsa.2	+	29	4135	c.3943G>A	c.(3943-3945)Gtg>Atg	p.V1315M	KIAA0195_uc002jnz.4_Missense_Mutation_p.V1305M|KIAA0195_uc010wsb.2_Missense_Mutation_p.V945M|KIAA0195_uc002job.4_Missense_Mutation_p.V343M	NM_014738	NP_055553	Q12767	K0195_HUMAN	Homo sapiens KIAA0195 (KIAA0195), mRNA.	1305					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGAGGACGTGCCCCTGCT	0.622000														133			19		0	0	1	0	0
SEC14L2	23541	broad.mit.edu	37	22	30805262	30805262	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:30805262C>T	uc003ahr.3	+	5	686	c.510C>T	c.(508-510)gcC>gcT	p.A170A	SEC14L2_uc003ahq.3_Silent_p.A170A|SEC14L2_uc011aky.2_Silent_p.A87A|SEC14L2_uc011akx.2_Silent_p.A116A|SEC14L2_uc003ahs.3_Silent_p.A96A|SEC14L2_uc003aht.3_Non-coding_Transcript|SEC14L2_uc003ahu.3_5'UTR|SEC14L2_uc010gvv.3_Non-coding_Transcript|SEC14L2_uc003ahv.1_5'UTR|SEC14L2_uc010gvx.1_5'UTR|SEC14L2_uc010gvy.1_5'Flank	NM_012429	NP_036561	O76054	S14L2_HUMAN	Homo sapiens SEC14-like 2 (S. cerevisiae) (SEC14L2), transcript variant 1, mRNA.	170	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTGTGGAGGCCTATggagagg	0.602000														73			19		0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58457164	58457164	+	Silent	SNP	A	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:58457164A>C	uc002yaz.3	-	25	2725	c.2586T>G	c.(2584-2586)acT>acG	p.T862T		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	862					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GGCATTCAGAAGTAACATTAA	0.289000														52			4		0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47891449	47891449	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47891449C>T	uc003cru.3	+	21	3850	c.3424C>T	c.(3424-3426)Cgg>Tgg	p.R1142W	DHX30_uc003crt.3_Missense_Mutation_p.R1103W	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1142						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAAGGAGCTGCGGCGGGCCCT	0.697000											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		116			15		0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030423	47030423	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:47030423G>A	uc003cqp.3	+	2	411	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	NBEAL2_uc003cqq.1_Missense_Mutation_p.A71T	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	78							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CCTGGAGCAAGCCCTCCTGCT	0.602000														87			16		0	0	1	0	0
EPM2AIP1	9852	broad.mit.edu	37	3	37033662	37033662	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:37033662C>T	uc003cgk.3	-	0	1134	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	MLH1_uc011aye.2_5'Flank|MLH1_uc003cgl.3_5'Flank|MLH1_uc011ayb.2_5'Flank|MLH1_uc010hge.3_5'Flank|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_014805	NP_055620	Q7L775	EPMIP_HUMAN	Homo sapiens EPM2A (laforin) interacting protein 1 (EPM2AIP1), mRNA.	303						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						ACTATCCATTCGGATATGGTA	0.398000														103			14		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15853516	15853516	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:15853516C>T	uc002ddx.3	-	12	1446	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	MYH11_uc002ddv.3_Missense_Mutation_p.V447M|MYH11_uc002ddw.3_Missense_Mutation_p.V440M|MYH11_uc002ddy.3_Missense_Mutation_p.V440M|MYH11_uc010bvg.3_Missense_Mutation_p.V272M|MYH11_uc002dea.1_Missense_Mutation_p.V146M	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	440	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T447T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTTTGTTCACGCGGGTGAGT	0.552000			T	CBFB	AML									167			36		0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33614342	33614342	+	Splice_Site	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:33614342C>T	uc003jia.1	-	16	2690	c.2527_splice	c.e16+1	p.G843_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.G758_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	843	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGTTTCTCACCTGTCCCGCA	0.507000										HNSCC(64;0.19)				42			7		0	0	1	0	0
CAMK1D	57118	broad.mit.edu	37	10	12858268	12858268	+	Silent	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:12858268C>T	uc001ilo.3	+	7	1009	c.774C>T	c.(772-774)aaC>aaT	p.N258N	CAMK1D_uc001iln.3_Silent_p.N258N	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	258	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		TCATTCGGAACCTGATGGAGA	0.488000														72			9		0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11994753	11994753	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:11994753G>A	uc003wvc.1	-	0	1517	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	506					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						TTGCAGAGAAGCGAGGGTGCC	0.542000														196			32		0	0	1	0	0
BVES	11149	broad.mit.edu	37	6	105549001	105549001	+	Missense_Mutation	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:105549001G>A	uc003pqw.3	-	7	1203	c.1046C>T	c.(1045-1047)gCa>gTa	p.A349V	BVES_uc003pqx.3_Missense_Mutation_p.A349V|BVES_uc003pqy.3_Missense_Mutation_p.A349V	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	349					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATTTGGAGATGCCGGTTCAAA	0.453000														89			28		0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144991209	144991209	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:144991209G>A	uc003zaf.1	-	31	13361	c.13191C>T	c.(13189-13191)ccC>ccT	p.P4397P	PLEC_uc003zab.1_Silent_p.P4260P|PLEC_uc003zac.1_Silent_p.P4264P|PLEC_uc003zad.2_Silent_p.P4260P|PLEC_uc003zae.1_Silent_p.P4228P|PLEC_uc003zag.1_Silent_p.P4238P|PLEC_uc003zah.2_Silent_p.P4246P|PLEC_uc003zaj.2_Silent_p.P4287P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4397	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGGAGACGGCGGGGCTGATGG	0.667000														175			22		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516480	140516480	+	Silent	SNP	G	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140516480G>A	uc003liq.3	+	0	1681	c.1464G>A	c.(1462-1464)tcG>tcA	p.S488S		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.S488L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCTACTCGCTGCTGCCGC	0.647000														440			100		0	0	1	0	0
NOD1	10392	broad.mit.edu	37	7	30491717	30491717	+	Missense_Mutation	SNP	C	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:30491717C>A	uc003tav.3	-	5	1839	c.1316G>T	c.(1315-1317)aGc>aTc	p.S439I		NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	439	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CACCAGGCTGCTGGGCTGCAT	0.652000														210			23		5.35356e-11	6.06456e-11	1	1	0
PHC2	1912	broad.mit.edu	37	1	33794638	33794638	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:33794638G>T	uc009vuh.1	-	13	2747	c.2258C>A	c.(2257-2259)cCc>cAc	p.P753H	PHC2_uc001bxg.1_Missense_Mutation_p.P752H|PHC2_uc001bxh.1_Missense_Mutation_p.P724H|PHC2_uc001bxe.1_Missense_Mutation_p.P217H|PHC2_uc001bxf.1_Missense_Mutation_p.P167H	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	752					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTGAGATGGGTGACAAGGG	0.587000														226			26		3.6726e-16	4.37102e-16	1	1	0
RANBP17	64901	broad.mit.edu	37	5	170338133	170338133	+	Missense_Mutation	SNP	G	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:170338133G>T	uc003mba.3	+	6	897	c.755G>T	c.(754-756)aGa>aTa	p.R252I	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript|RANBP17_uc003maw.3_3'UTR|RANBP17_uc011dew.2_Missense_Mutation_p.R252I	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	252					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAACTTGGAGAACAAGTAAG	0.373000			T	TRD@	ALL									51			10		1.58986e-06	1.69271e-06	1	1	0
OSBPL6	114880	broad.mit.edu	37	2	179253867	179253867	+	Missense_Mutation	SNP	T	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:179253867T>C	uc002uly.3	+	21	2907	c.2363T>C	c.(2362-2364)cTc>cCc	p.L788P	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.L763P|OSBPL6_uc010zfe.2_Missense_Mutation_p.L732P|OSBPL6_uc002ulz.3_Missense_Mutation_p.L727P|OSBPL6_uc002uma.3_Missense_Mutation_p.L767P	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	763					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTGCAAACTCACATTTGTC	0.338000														46			20		0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50055822	50055822	+	Missense_Mutation	SNP	C	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50055822C>T	uc001ruv.1	-	4	613	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	FMNL3_uc001ruw.1_Missense_Mutation_p.E127K|FMNL3_uc001ruu.1_5'UTR	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	127	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAGAAATTCCCGCACCCAC	0.527000														88			21		0	0	1	0	0
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:46184897_46184898delAC	uc001cou.3	-	5	1430_1431	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs	IPP_uc001cos.4_Frame_Shift_Del_p.C388fs	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													---	107	---	---	8	---					
GPSM2	29899	broad.mit.edu	37	1	109440714	109440715	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:109440714_109440715insT	uc010ovc.2	+	4	1044_1045	c.548_549insT	c.(547-549)gatfs	p.D183fs	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Frame_Shift_Ins_p.D183fs|GPSM2_uc010ove.1_Frame_Shift_Ins_p.D183fs	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	183					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GCAGCCGTGGATTTTTATGAGT	0.455													---	151	---	---	7	---					
NBPF10	100132406	broad.mit.edu	37	1	144828718	144828719	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:144828718_144828719insT	uc009wig.1	+	21	2951_2952	c.2757_2758insT	c.(2755-2760)aggtttfs	p.R919fs	NBPF10_uc010oxo.1_Frame_Shift_Ins_p.R846fs|NBPF10_uc010oxn.1_Frame_Shift_Ins_p.R819fs|NBPF10_uc021oth.1_Frame_Shift_Ins_p.R581fs|NBPF10_uc021otj.1_Frame_Shift_Ins_p.R948fs|NBPF10_uc021oto.1_Frame_Shift_Ins_p.R736fs|NBPF10_uc021otr.1_Frame_Shift_Ins_p.R248fs|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Frame_Shift_Ins_p.R492fs|NBPF10_uc010oyd.1_Frame_Shift_Ins_p.R248fs|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	3532										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGACAATAGGTTTTTTACTTT	0.446													---	443	---	---	36	---					
ASPM	259266	broad.mit.edu	37	1	197073231	197073232	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:197073231_197073232insT	uc001gtu.3	-	17	5406_5407	c.5149_5150insA	c.(5149-5151)atafs	p.I1717fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1717					mitosis	cytoplasm|nucleus	calmodulin binding	p.I1717fs*1(4)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGTGCAGCTATTTTTTTGGAA	0.371													---	138	---	---	25	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr1:200842776_200842778delTGC	uc001gvn.1	+	0	611_613	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	204	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													---	113	---	---	7	---					
MFSD2B	388931	broad.mit.edu	37	2	24239769	24239770	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:24239769_24239770insC	uc002reo.2	+	3	416_417	c.402_403insC	c.(400-405)ctgcccfs	p.L134fs	MFSD2B_uc010exz.2_Non-coding_Transcript	NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	134					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						TGTGGTTCCTGCCCCCCTTCAC	0.668													---	160	---	---	20	---					
RGPD3	653489	broad.mit.edu	37	2	107041249	107041249	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:107041249delT	uc010ywi.1	-	19	3231	c.3174delA	c.(3172-3174)aaafs	p.K1058fs		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1058	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						AATACAGAACTTTTTCACCTT	0.393													---	595	---	---	27	---					
XIRP2	129446	broad.mit.edu	37	2	168106134	168106135	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr2:168106134_168106135insA	uc002udx.3	+	8	8321_8322	c.8232_8233insA	c.(8230-8235)accaaafs	p.T2744fs	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Frame_Shift_Ins_p.T2569fs|XIRP2_uc010fpq.3_Frame_Shift_Ins_p.T2522fs|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2569					actin cytoskeleton organization	cell junction	actin binding			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						AAACCTTTACCAAAAAACAATA	0.347													---	73	---	---	16	---					
ULK4	54986	broad.mit.edu	37	3	41841755	41841756	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:41841755_41841756insC	uc003ckv.4	-	19	2079_2080	c.1878_1879insG	c.(1876-1881)gcaaaafs	p.A626fs	ULK4_uc003ckw.2_Frame_Shift_Ins_p.A626fs	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	626							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TCAATAATTTTTGCTGCCATGT	0.361													---	259	---	---	9	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													---	63	---	---	9	---					
FGFR3	2261	broad.mit.edu	37	4	1806180	1806181	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:1806180_1806181insC	uc003gdr.3	+	8	1455_1456	c.1199_1200insC	c.(1198-1200)agcfs	p.S400fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.S402fs|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.S400fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	400					JAK-STAT cascade|MAPKKK cascade|bone maturation|cell growth|insulin receptor signaling pathway|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R399C(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CGCCTGCGCAGCCCCCCCAAGA	0.629		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				---	947	---	---	50	---					
SPARCL1	8404	broad.mit.edu	37	4	88415552	88415553	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:88415552_88415553insT	uc010ikm.3	-	4	971_972	c.399_400insA	c.(397-402)aaactcfs	p.K133fs	SPARCL1_uc011cdc.2_Frame_Shift_Ins_p.K8fs|SPARCL1_uc003hqs.4_Frame_Shift_Ins_p.K133fs|SPARCL1_uc011cdd.2_Frame_Shift_Ins_p.K8fs	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	133					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCTCTGAGAGTTTTTTCTCCT	0.401													---	146	---	---	25	---					
PCDH10	57575	broad.mit.edu	37	4	134073569	134073571	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:134073569_134073571delCTG	uc003iha.3	+	0	3100_3102	c.2274_2276delCTG	c.(2272-2277)ctctgc>ctc	p.C763del	PCDH10_uc003igz.3_In_Frame_Del_p.C763del	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	763	Cys-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ATTGCTGCCTCTGCTGCTGCTGC	0.581													---	166	---	---	11	---					
AGA	175	broad.mit.edu	37	4	178352895	178352896	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr4:178352895_178352896insT	uc003iuu.2	-	8	1135_1136	c.1007_1008insA	c.(1006-1008)aatfs	p.N336fs	AGA_uc010irt.2_Non-coding_Transcript|AGA_uc003iuw.3_Frame_Shift_Ins_p.N326fs|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	336					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		CAGTTGGCTGATTTTTTTCGGA	0.371													---	64	---	---	7	---					
TRIO	7204	broad.mit.edu	37	5	14477004	14477004	+	Splice_Site	DEL	T	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:14477004delT	uc003jff.3	+	41	6090	c.6084_splice	c.e41-1	p.D2028_splice	TRIO_uc003jfg.3_Splice_Site|TRIO_uc003jfh.1_Splice_Site_p.D1677_splice	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2028	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTTTCCAGCTTTTTTTTAGG	0.308													---	27	---	---	10	---					
ITGA1	3672	broad.mit.edu	37	5	52221300	52221301	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:52221300_52221301insT	uc003jou.3	+	18	3010_3011	c.2596_2597insT	c.(2596-2598)gttfs	p.V866fs	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Frame_Shift_Ins_p.V397fs	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	866					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TCCAAATCTAGTTTTTTCAGGA	0.356													---	83	---	---	19	---					
PDE4D	5144	broad.mit.edu	37	5	58270553	58270554	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:58270553_58270554insA	uc003jsa.2	-	14	2539_2540	c.2367_2368insT	c.(2365-2370)gtagggfs	p.V789fs	PDE4D_uc003jrx.2_Frame_Shift_Ins_p.V653fs|PDE4D_uc003jry.3_Frame_Shift_Ins_p.V487fs|PDE4D_uc003jrz.3_Frame_Shift_Ins_p.V725fs|PDE4D_uc003jsb.3_Frame_Shift_Ins_p.V728fs|PDE4D_uc003jrt.2_Frame_Shift_Ins_p.V487fs|PDE4D_uc003jru.3_Frame_Shift_Ins_p.V565fs|PDE4D_uc003jrv.2_Frame_Shift_Ins_p.V659fs|PDE4D_uc003jrw.2_Frame_Shift_Ins_p.V667fs|PDE4D_uc003jrs.2_Frame_Shift_Ins_p.V498fs	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	789					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCTTCTTCCCCTACTGCCTCCT	0.436													---	399	---	---	72	---					
PCDHB3	56132	broad.mit.edu	37	5	140481073	140481074	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140481073_140481074insT	uc003lio.3	+	0	840_841	c.840_841insT	c.(838-843)gcatttfs	p.A280fs	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	280	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATCATATGCATTTTTTCATGC	0.366													---	100	---	---	26	---					
PCDHB13	56123	broad.mit.edu	37	5	140593739	140593739	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:140593739delT	uc003lja.1	+	0	231	c.44delT	c.(43-45)cttfs	p.L15fs		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	15					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTCCTTTTTTCCTTT	0.532													---	56	---	---	11	---					
DCTN4	51164	broad.mit.edu	37	5	150136014	150136015	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr5:150136014_150136015insT	uc010jhi.3	-	1	272_273	c.170_171insA	c.(169-171)aatfs	p.N57fs	DCTN4_uc003lsu.3_5'UTR|DCTN4_uc003lsv.3_Frame_Shift_Ins_p.N57fs|DCTN4_uc010jhj.2_Non-coding_Transcript|DCTN4_uc011dck.1_5'UTR	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	57						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGATGGCATATTTTCTAAACA	0.351													---	87	---	---	12	---					
PRRC2A	7916	broad.mit.edu	37	6	31601175	31601175	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:31601175delC	uc003nvb.4	+	16	4588	c.4339delC	c.(4339-4341)cccfs	p.P1447fs	PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Frame_Shift_Del_p.P1447fs	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1447	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						AGAGGAGCGTCCCCCGGGGCT	0.542													---	184	---	---	15	---					
SLC26A8	116369	broad.mit.edu	37	6	35912064	35912065	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:35912064_35912065insT	uc003olm.3	-	19	2636_2637	c.2525_2526insA	c.(2524-2526)aatfs	p.N842fs	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Ins_p.N424fs|SLC26A8_uc003oll.3_Frame_Shift_Ins_p.N737fs|SLC26A8_uc003oln.3_Frame_Shift_Ins_p.N842fs	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	842	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGACTTACATTTTTTTGGCT	0.401													---	121	---	---	20	---					
ZNF451	26036	broad.mit.edu	37	6	57012217	57012218	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr6:57012217_57012218insA	uc003pdm.1	+	9	1558_1559	c.1334_1335insA	c.(1333-1335)ccafs	p.P445fs	ZNF451_uc003pdl.3_Frame_Shift_Ins_p.P445fs|ZNF451_uc003pdn.1_Frame_Shift_Ins_p.P445fs|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Frame_Shift_Ins_p.P445fs	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATTGCCATTCCAAAAAAGAAGA	0.342													---	123	---	---	21	---					
FAM126A	84668	broad.mit.edu	37	7	22985591	22985592	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:22985591_22985592insT	uc003svm.4	-	10	1437_1438	c.1182_1183insA	c.(1180-1185)aaagaafs	p.K394fs	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	394						cytoplasm|membrane	signal transducer activity	p.E393E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTGTAGTTTCTTTTTCTTTTC	0.406													---	172	---	---	40	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	-	-	rs10951154	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	199	---	---	9	---					
AEBP1	165	broad.mit.edu	37	7	44148713	44148714	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:44148713_44148714insA	uc003tkb.3	+	7	1331_1332	c.1026_1027insA	c.(1024-1029)cccaaafs	p.P342fs	AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	342					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGAGAAACCCAAAAAGGAGGA	0.629													---	71	---	---	12	---					
MDH2	4191	broad.mit.edu	37	7	75684225	75684226	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:75684225_75684226insA	uc003ueo.3	+	1	230_231	c.144_145insA	c.(142-147)cccttgfs	p.P48fs	MDH2_uc011kgh.2_Frame_Shift_Ins_p.P48fs|MDH2_uc003uep.3_Intron	NM_005918	NP_005909	P40926	MDHM_HUMAN	Homo sapiens malate dehydrogenase 2, NAD (mitochondrial) (MDH2), nuclear gene encoding mitochondrial protein, mRNA.	48					gluconeogenesis|malate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus|plasma membrane	L-malate dehydrogenase activity|binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14					NADH(DB00157)	AGAACAGCCCCTTGGTGAGCCG	0.564													---	328	---	---	9	---					
DPY19L2P4	442523	broad.mit.edu	37	7	89748927	89748928	+	RNA	INS	-	C	C	rs138239781	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:89748927_89748928insC	uc003ujw.1	+	0		c.214_215insC								Homo sapiens dpy-19-like 2 pseudogene 4 (C. elegans) (DPY19L2P4), non-coding RNA.																		GGTGCGGGCCTCCCCCTTCCCC	0.639													---	11	---	---	10	---					
NOS3	4846	broad.mit.edu	37	7	150698397	150698398	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:150698397_150698398insG	uc003wif.3	+	10	1608_1609	c.1312_1313insG	c.(1312-1314)aggfs	p.R438fs	NOS3_uc011kuy.2_Frame_Shift_Ins_p.R232fs|NOS3_uc011kva.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kuz.2_Frame_Shift_Ins_p.R438fs|NOS3_uc011kvb.2_Frame_Shift_Ins_p.R438fs	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	438	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCAGAAGGCCAGGGGGGGCTGC	0.614													---	195	---	---	38	---					
NOM1	64434	broad.mit.edu	37	7	156745239	156745240	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr7:156745239_156745240insA	uc003wmy.3	+	1	1074_1075	c.1059_1060insA	c.(1057-1062)aagaaafs	p.K353fs		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	353					RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGGACTTCAAGAAAAAGGAAGA	0.401													---	84	---	---	15	---					
ADAM28	10863	broad.mit.edu	37	8	24167472	24167473	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:24167472_24167473insA	uc003xdy.3	+	2	299_300	c.216_217insA	c.(214-219)ttgaaafs	p.L72fs	ADAM28_uc003xdx.3_Frame_Shift_Ins_p.L72fs|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	72					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.N75fs*15(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGCTTTATTTGAAAAAAAACAA	0.332													---	103	---	---	13	---					
PNOC	5368	broad.mit.edu	37	8	28196589	28196589	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:28196589delC	uc010lva.2	+	2	367	c.159delC	c.(157-159)ttcfs	p.F53fs	PNOC_uc003xgp.3_Frame_Shift_Del_p.F53fs|PNOC_uc011lau.1_5'UTR	NM_006228	NP_006219	Q13519	PNOC_HUMAN	Homo sapiens prepronociceptin (PNOC), mRNA.	53					neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		AGAAGGTCTTCCCCAGCCCCC	0.607													---	227	---	---	19	---					
FZD6	8323	broad.mit.edu	37	8	104343656	104343657	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:104343656_104343657insA	uc003ylh.3	+	6	2330_2331	c.2040_2041insA	c.(2038-2043)ctcaaafs	p.L680fs	FZD6_uc011lhn.2_Frame_Shift_Ins_p.L648fs|FZD6_uc003ylj.3_Frame_Shift_Ins_p.L680fs|FZD6_uc011lho.2_Frame_Shift_Ins_p.L375fs|FZD6_uc011lhp.2_Frame_Shift_Ins_p.L625fs	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	680					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			CAAGCAGCCTCAAAGGTTCCAC	0.450													---	142	---	---	35	---					
COL22A1	169044	broad.mit.edu	37	8	139635983	139635984	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:139635983_139635984insA	uc003yvd.3	-	51	4209_4210	c.3762_3763insT	c.(3760-3765)cctggafs	p.P1254fs	COL22A1_uc011ljo.2_Frame_Shift_Ins_p.P534fs	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1254	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.P1254T(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCGGCTCTCCAGGGGGACCCG	0.436										HNSCC(7;0.00092)			---	341	---	---	70	---					
PLEC	5339	broad.mit.edu	37	8	145001678	145001678	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr8:145001678delA	uc003zaf.1	-	26	4237	c.4067delT	c.(4066-4068)ttgfs	p.L1356fs	PLEC_uc003zab.1_Frame_Shift_Del_p.L1219fs|PLEC_uc003zac.1_Frame_Shift_Del_p.L1223fs|PLEC_uc003zad.2_Frame_Shift_Del_p.L1219fs|PLEC_uc003zae.1_Frame_Shift_Del_p.L1187fs|PLEC_uc003zag.1_Frame_Shift_Del_p.L1197fs|PLEC_uc003zah.2_Frame_Shift_Del_p.L1205fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.L1246fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1356	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGGCGCCCAAGGGGTCTGC	0.721													---	88	---	---	14	---					
SMARCA2	6595	broad.mit.edu	37	9	2039777	2039779	+	In_Frame_Del	DEL	CAG	-	-	rs113070757	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:2039777_2039779delCAG	uc003zhc.3	+	3	766_768	c.667_669delCAG	c.(667-669)cagdel	p.Q238del	SMARCA2_uc003zhd.3_In_Frame_Del_p.Q238del|SMARCA2_uc010mha.3_In_Frame_Del_p.Q229del	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	238	Poly-Gln.			Missing (in Ref. 1; CAA51407).	chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm	ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		gcagcagcaacagcagcagcagc	0.635													---	85	---	---	11	---					
FAM120A	23196	broad.mit.edu	37	9	96318839	96318839	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:96318839delA	uc004atw.3	+	12	2475	c.2450delA	c.(2449-2451)gaafs	p.E817fs	FAM120A_uc004aty.3_Frame_Shift_Del_p.E598fs|FAM120A_uc004atz.3_Frame_Shift_Del_p.E466fs|FAM120A_uc010mrg.3_Frame_Shift_Del_p.E130fs	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	817						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCAGCCGGGAAAAGACCCCA	0.502													---	270	---	---	31	---					
LOC441454	441454	broad.mit.edu	37	9	99672522	99672523	+	RNA	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:99672522_99672523insT	uc011luq.2	+	0		c.1166_1167insT								Homo sapiens prothymosin, alpha pseudogene (LOC441454), non-coding RNA.																		Tagatgaagaaggggaagaaag	0.520													---	20	---	---	7	---					
SMC2	10592	broad.mit.edu	37	9	106864318	106864319	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:106864318_106864319insT	uc004bbv.3	+	7	1002_1003	c.714_715insT	c.(712-717)cagtttfs	p.Q238fs	SMC2_uc004bbu.1_Frame_Shift_Ins_p.Q238fs|SMC2_uc004bbw.3_Frame_Shift_Ins_p.Q238fs|SMC2_uc011lvl.2_Frame_Shift_Ins_p.Q238fs|SMC2_uc010mtg.1_Frame_Shift_Ins_p.Q93fs|SMC2_uc010mth.1_Frame_Shift_Ins_p.Q188fs|SMC2_uc004bbx.3_Frame_Shift_Ins_p.Q238fs	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	238					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TTGCTTATCAGTTTTTGCTGGC	0.332													---	106	---	---	19	---					
LAMC3	10319	broad.mit.edu	37	9	133928274	133928274	+	Frame_Shift_Del	DEL	C	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:133928274delC	uc004caa.1	+	10	1959	c.1861delC	c.(1861-1863)cccfs	p.P621fs		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	621	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCACTGCCCCCCTTCCA	0.667											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	167	---	---	17	---					
AK8	158067	broad.mit.edu	37	9	135753606	135753607	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr9:135753606_135753607insG	uc004cbu.1	-	0	592_593	c.36_37insC	c.(34-39)cccgagfs	p.P12fs	AK8_uc010mzx.1_Non-coding_Transcript|AK8_uc004cbv.1_5'UTR|AK8_uc004cbw.1_Frame_Shift_Ins_p.P12fs|C9orf9_uc004cbx.1_5'Flank|C9orf9_uc004cby.1_5'Flank|C9orf9_uc004cbz.1_5'Flank	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN	Homo sapiens adenylate kinase 8 (AK8), mRNA.	12						cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity	p.E13fs*14(3)|p.E13fs*40(3)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TGGGGCATCTCGGGGGGGATAC	0.693													---	108	---	---	13	---					
PTPLA	9200	broad.mit.edu	37	10	17636369	17636370	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:17636369_17636370insA	uc001ipg.3	-	5	653_654	c.618_619insT	c.(616-621)tttatcfs	p.F206fs		NM_014241	NP_055056	B0YJ81	HACD1_HUMAN	Homo sapiens protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A (PTPLA), mRNA.	206					fatty acid biosynthetic process|multicellular organismal development|signal transduction	endoplasmic reticulum membrane|integral to membrane	lyase activity|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						TATAAGATGATAAAAAAATTAT	0.312													---	83	---	---	11	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	22	---	---	8	---					
NLRP10	338322	broad.mit.edu	37	11	7981307	7981308	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:7981307_7981308insT	uc001mfv.1	-	1	1868_1869	c.1851_1852insA	c.(1849-1854)aaatgtfs	p.K617fs		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	617							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)		ACAGAAGGACATTTTTGCTCCT	0.396													---	77	---	---	11	---					
COPB1	1315	broad.mit.edu	37	11	14501262	14501263	+	Splice_Site	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:14501262_14501263insA	uc001mlh.2	-	11	1459	c.1213_splice	c.e11-1	p.L405_splice	COPB1_uc001mli.2_Splice_Site_p.L405_splice|COPB1_uc001mlg.2_Splice_Site_p.L405_splice	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	405					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						TTCCATTAACTAAAAGAAAAAA	0.307													---	74	---	---	7	---					
MS4A15	219995	broad.mit.edu	37	11	60531345	60531346	+	Frame_Shift_Ins	INS	-	G	G	rs1032939	by1000genomes	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:60531345_60531346insG	uc009ynf.1	+	1	359_360	c.139_140insG	c.(139-141)ctgfs	p.L47fs	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Frame_Shift_Ins_p.L47fs	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	47			L -> R (in dbSNP:rs1032939).			integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						GGAGCCACCGCTGGGGGCACAG	0.604													---	187	---	---	31	---					
DLG2	1740	broad.mit.edu	37	11	83641454	83641455	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr11:83641454_83641455insT	uc001paj.2	-	9	1400_1401	c.1097_1098insA	c.(1096-1098)cctfs	p.P366fs	DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Frame_Shift_Ins_p.P333fs|DLG2_uc021qof.1_Frame_Shift_Ins_p.P405fs|DLG2_uc010rsz.1_Frame_Shift_Ins_p.P366fs|DLG2_uc010rta.1_Frame_Shift_Ins_p.P366fs|DLG2_uc001pak.2_Frame_Shift_Ins_p.P471fs|DLG2_uc010rtb.1_Frame_Shift_Ins_p.P333fs|DLG2_uc001pal.1_Frame_Shift_Ins_p.P366fs|DLG2_uc001pam.2_Frame_Shift_Ins_p.P405fs	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	366						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CACACTCAACAGGGGAATAGTG	0.505													---	150	---	---	39	---					
AQP5	362	broad.mit.edu	37	12	50358797	50358798	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:50358797_50358798insG	uc001rvo.2	+	3	1157_1158	c.635_636insG	c.(634-636)gtgfs	p.V212fs	AQP6_uc001rvp.1_5'Flank|AQP6_uc001rvq.1_5'Flank	NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	212					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						GGGCCCATCGTGGGGGCGGTCC	0.614													---	249	---	---	13	---					
AMHR2	269	broad.mit.edu	37	12	53819644	53819645	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:53819644_53819645insG	uc001scx.2	+	5	873_874	c.793_794insG	c.(793-795)cggfs	p.R265fs	AMHR2_uc009zmy.2_Frame_Shift_Ins_p.R265fs|AMHR2_uc021qyg.1_Frame_Shift_Ins_p.R265fs	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	265	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	p.R265W(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	CACTGCCAGCCGGGGGGGTCCT	0.579													---	112	---	---	23	---					
HCFC2	29915	broad.mit.edu	37	12	104487331	104487332	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr12:104487331_104487332insA	uc001tkj.4	+	9	1555_1556	c.1452_1453insA	c.(1450-1455)aggaaafs	p.R484fs	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	484					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	p.K485R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATATGCTAAGGAAAAATGAAGG	0.312													---	50	---	---	18	---					
BRCA2	675	broad.mit.edu	37	13	32913836	32913837	+	Frame_Shift_Ins	INS	-	A	A	rs80358757		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr13:32913836_32913837insA	uc001uub.1	+	10	5571_5572	c.5344_5345insA	c.(5344-5346)caafs	p.Q1782fs		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1782					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	p.N1784fs*7(1)		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)		TGTTGAAGATCAAAAAAACACT	0.322			"""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)			---	80	---	---	16	---					
LOC646214	646214	broad.mit.edu	37	15	21938055	21938064	+	RNA	DEL	GCTAAAGATG	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:21938055_21938064delGCTAAAGATG	uc010tzj.1	-	0		c.2676_2685delCATCTTTAGC								Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA.																		TGCCCCCAGTGCTAAAGATGGTCCTGCTCA	0.471													---	540	---	---	32	---					
MEF2A	4205	broad.mit.edu	37	15	100185786	100185787	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr15:100185786_100185787insT	uc010urw.2	+	2	434_435	c.75_76insT	c.(73-78)aagtttfs	p.K25fs	MEF2A_uc002bve.3_Frame_Shift_Ins_p.K25fs|MEF2A_uc002bvg.3_Frame_Shift_Ins_p.K25fs|MEF2A_uc010urv.2_Intron|MEF2A_uc010bos.3_Frame_Shift_Ins_p.K25fs|MEF2A_uc002bvf.3_Frame_Shift_Ins_p.K25fs|MEF2A_uc002bvi.3_Frame_Shift_Ins_p.K25fs|MEF2A_uc010bot.3_Intron	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	25	Lys-rich (basic).|MADS-box.				BMK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	RNA polymerase II regulatory region sequence-specific DNA binding|SMAD binding|activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			CAAAGAGAAAGTTTGGATTAAT	0.317													---	110	---	---	20	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:29998498_29998500delCTG	uc010bzm.2	+	14	2961_2963	c.2926_2928delCTG	c.(2926-2928)ctgdel	p.L981del	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_In_Frame_Del_p.L861del|TAOK2_uc002dva.2_In_Frame_Del_p.L974del|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_In_Frame_Del_p.L801del	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													---	276	---	---	7	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	-	-	rs13336129	byFrequency	TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr16:51175656_51175658delGCT	uc021tif.1	-	1	506_508	c.184_186delAGC	c.(184-186)agcdel	p.S62del	SALL1_uc021tid.1_In_Frame_Del_p.S62del|SALL1_uc021tie.1_In_Frame_Del_p.S159del|SALL1_uc010cbv.3_Intron	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													---	190	---	---	8	---					
KDM6B	23135	broad.mit.edu	37	17	7751765	7751765	+	Frame_Shift_Del	DEL	C	-	-	rs146391855		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7751765delC	uc002gix.3	+	0	902	c.65delC	c.(64-66)gccfs	p.A22fs	KDM6B_uc002giw.1_Frame_Shift_Del_p.A720fs	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	720					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGCGTGGCCCCCCAACCC	0.582													---	375	---	---	8	---					
CHD3	1107	broad.mit.edu	37	17	7794054	7794055	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:7794054_7794055insA	uc002gjd.2	+	2	558_559	c.556_557insA	c.(556-558)caafs	p.Q186fs	CHD3_uc002gje.2_Frame_Shift_Ins_p.Q127fs|CHD3_uc002gjf.2_Frame_Shift_Ins_p.Q127fs|CHD3_uc002gjg.1_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	127					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGATGGGGGGCAAAAGGTGAGT	0.510													---	30	---	---	7	---					
NF1	4763	broad.mit.edu	37	17	29661916	29661917	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:29661916_29661917insT	uc002hgg.3	+	39	6256_6257	c.5873_5874insT	c.(5872-5874)cgtfs	p.R1958fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.R1937fs|NF1_uc010cso.3_Frame_Shift_Ins_p.R146fs|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1958					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.?(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)		AATCTAGTTCGTTTTTGCAAGC	0.356			"""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)			---	79	---	---	21	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:36059173_36059174insG	uc002hok.4	-	7	1782_1783	c.1561_1562insC	c.(1561-1563)cagfs	p.Q521fs	HNF1B_uc021tvu.1_Frame_Shift_Ins_p.Q226fs|HNF1B_uc010wdi.2_Frame_Shift_Ins_p.Q495fs|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													---	133	---	---	18	---					
EVPL	2125	broad.mit.edu	37	17	74015643	74015643	+	Frame_Shift_Del	DEL	G	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr17:74015643delG	uc010wss.1	-	9	1331	c.1103delC	c.(1102-1104)cctfs	p.P368fs	EVPL_uc002jqi.2_Frame_Shift_Del_p.P368fs|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	368	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGGGCGCCAGGGGGGCCCCC	0.612													---	86	---	---	9	---					
LAMA3	3909	broad.mit.edu	37	18	21444821	21444822	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:21444821_21444822insA	uc002kuq.3	+	35	4743_4744	c.4657_4658insA	c.(4657-4659)gaafs	p.E1553fs	LAMA3_uc002kur.3_Frame_Shift_Ins_p.E1553fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1553	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTCTTCTGGAAAAGAAGCCG	0.446													---	90	---	---	10	---					
FAM59A	64762	broad.mit.edu	37	18	29972971	29972971	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:29972971delT	uc002kxl.3	-	1	205	c.149delA	c.(148-150)aatfs	p.N50fs	FAM59A_uc002kxk.2_Frame_Shift_Del_p.N50fs	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	50	CABIT.							p.E49V(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CAGATAGTCATTTTCCCGCAG	0.438													---	97	---	---	22	---					
FBXO15	201456	broad.mit.edu	37	18	71749238	71749238	+	Frame_Shift_Del	DEL	T	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr18:71749238delT	uc002llf.2	-	8	1267	c.1187delA	c.(1186-1188)aatfs	p.N396fs	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Frame_Shift_Del_p.N320fs	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	320										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TTCTCTGTTATTTTTTAAATG	0.328													---	55	---	---	12	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:6531149_6531151delGCT	uc002mfh.2	+	0	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													---	211	---	---	7	---					
SUGP2	10147	broad.mit.edu	37	19	19136015	19136016	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:19136015_19136016insA	uc002nkz.1	-	2	1203_1204	c.1183_1184insT	c.(1183-1185)tgcfs	p.C395fs	SUGP2_uc002nkx.2_Frame_Shift_Ins_p.C381fs|SUGP2_uc002nla.1_Frame_Shift_Ins_p.C381fs|SUGP2_uc002nlb.2_Frame_Shift_Ins_p.C381fs|SUGP2_uc010xqk.1_Frame_Shift_Ins_p.C150fs	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA.	381					RNA splicing|mRNA processing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGTAAAAAAGCAAAAATCTCTG	0.356													---	77	---	---	23	---					
TSHZ3	57616	broad.mit.edu	37	19	31769141	31769142	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:31769141_31769142insC	uc002nsy.4	-	1	1622_1623	c.1557_1558insG	c.(1555-1560)gggcttfs	p.G519fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	519					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATATCAAGCCCCCCCTTGG	0.500													---	389	---	---	11	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:35773520_35773522delCTC	uc002nyw.3	+	0	111_113	c.40_42delCTC	c.(40-42)ctcdel	p.L18del		NM_021175	NP_066998	P81172	HEPC_HUMAN	Homo sapiens hepcidin antimicrobial peptide (HAMP), mRNA.	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													---	432	---	---	7	---					
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:55146148_55146150delCTC	uc002qgj.3	+	10	1757_1759	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_uc010erp.1_In_Frame_Del_p.L94del|LILRB1_uc002qgl.3_In_Frame_Del_p.L479del|LILRB1_uc002qgk.3_In_Frame_Del_p.L480del|LILRB1_uc002qgm.3_In_Frame_Del_p.L480del|LILRB1_uc010erq.3_In_Frame_Del_p.L463del|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	479					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.L479del(1)|p.L478L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)			---	155	---	---	8	---					
ZNF543	125919	broad.mit.edu	37	19	57840153	57840154	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr19:57840153_57840154insA	uc002qoi.2	+	3	1680_1681	c.1323_1324insA	c.(1321-1326)cataaafs	p.H441fs		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGTCTTGCATAAAAGGACCCA	0.480													---	88	---	---	19	---					
BMP2	650	broad.mit.edu	37	20	6750998	6750999	+	Frame_Shift_Ins	INS	-	C	C	rs79417223		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:6750998_6750999insC	uc002wmu.1	+	1	1010_1011	c.225_226insC	c.(223-228)gtgcccfs	p.V75fs		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	75					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	ACGCCGTGGTGCCCCCCTACAT	0.653													---	83	---	---	21	---					
TTI1	9675	broad.mit.edu	37	20	36627613	36627613	+	Frame_Shift_Del	DEL	G	-	-	rs149568606		TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:36627613delG	uc002xhl.3	-	5	2979	c.2770delC	c.(2770-2772)ctgfs	p.L924fs	TTI1_uc002xhm.3_Frame_Shift_Del_p.L924fs	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	924							binding	p.L924fs*37(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGCACTGCCAGGGGGGCGTCC	0.577													---	168	---	---	20	---					
MMP9	4318	broad.mit.edu	37	20	44641175	44641176	+	Frame_Shift_Ins	INS	-	C	C			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr20:44641175_44641176insC	uc002xqz.3	+	7	1303_1304	c.1284_1285insC	c.(1282-1287)gggcccfs	p.G428fs		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	428					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TCACTGAGGGGCCCCCCTTGCA	0.629													---	165	---	---	28	---					
DSCR10	259234	broad.mit.edu	37	21	39580635	39580635	+	RNA	DEL	A	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr21:39580635delA	uc010gnt.2	+	2		c.757delA								Homo sapiens Down syndrome critical region gene 10 (non-protein coding) (DSCR10), non-coding RNA.																		TCAAAGGTTCAAAAAAACAAG	0.284													---	98	---	---	16	---					
SERPIND1	3053	broad.mit.edu	37	22	21133946	21133947	+	Frame_Shift_Ins	INS	-	T	T			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chr22:21133946_21133947insT	uc002ztc.2	+	0	433_434	c.430_431insT	c.(430-432)cttfs	p.L144fs	PI4KA_uc002zsz.4_Intron|SERPIND1_uc002ztb.1_Frame_Shift_Ins_p.L116fs	NM_000185	NP_000176	P05546	HEP2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade D (heparin cofactor), member 1 (SERPIND1), mRNA.	116					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CATCCTCCAGCTTTTTCATGGC	0.500													---	117	---	---	11	---					
PHKA2	5256	broad.mit.edu	37	X	18911709	18911710	+	Frame_Shift_Ins	INS	-	A	A			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:18911709_18911710insA	uc004cyv.4	-	32	4031_4032	c.3601_3602insT	c.(3601-3603)tatfs	p.Y1201fs	LOC100132163_uc004cyt.3_Intron	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1201					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCGCTGTCATAAAAGAAGTGG	0.525													---	265	---	---	69	---					
ZC3H12B	340554	broad.mit.edu	37	X	64722292	64722293	+	Frame_Shift_Ins	INS	-	G	G			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:64722292_64722293insG	uc010nko.3	+	4	1781_1782	c.1714_1715insG	c.(1714-1716)cggfs	p.R572fs		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	561							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGTAGACCGGGGGGTGTAT	0.470													---	54	---	---	7	---					
GPR112	139378	broad.mit.edu	37	X	135430725	135430725	+	Frame_Shift_Del	DEL	A	-	-			TCGA-IB-7651-01A-11D-2154-08	TCGA-IB-7651-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d0a2d34-e1eb-4787-9f56-43b0eae9d33b	1df128c2-1192-4cae-b1f5-11c1429a77ef	g.chrX:135430725delA	uc004ezu.1	+	5	5151	c.4860delA	c.(4858-4860)tcafs	p.S1620fs	GPR112_uc010nsb.1_Frame_Shift_Del_p.S1415fs|GPR112_uc010nsc.1_Frame_Shift_Del_p.S1387fs	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1620					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)					GGGCTACTTCAAAAAACAAAA	0.428													---	207	---	---	23	---					
